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_800 | A genomic change on Chromosome 1 affects MPL (MPL proto-oncogene, thrombopoietin receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Primary myelofibrosis | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT |
Task1_train_801 | This genomic variant is located on Chromosome 1, within the MPL (MPL proto-oncogene, thrombopoietin receptor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Thrombocythemia 2 | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT |
Task1_train_802 | Gene MPL (MPL proto-oncogene, thrombopoietin receptor), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital amegakaryocytic thrombocytopenia | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT 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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT 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Task1_train_803 | This gene mutation involves MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital amegakaryocytic thrombocytopenia 1 | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT 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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT 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Task1_train_804 | A mutation found in MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Thrombocytopenia | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT 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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT 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Task1_train_805 | A mutation in MPL (MPL proto-oncogene, thrombopoietin receptor), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Essential thrombocythemia | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT 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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT 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Task1_train_806 | This mutation is located in gene MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Congenital amegakaryocytic thrombocytopenia | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT 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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT 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Task1_train_807 | Assess the clinical impact of this variant on gene MPL (MPL proto-oncogene, thrombopoietin receptor), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital amegakaryocytic thrombocytopenia | CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAGAAATTAGTCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGGACCCAAGAGGCAGAGGCTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTGTCTCAAAACATTTTTAAAAATAAATAAAGTGGAAAGGGTTCCAGCATTGTTGGGGCTTACATTAGTAGAGGGGAGGGGAAAAGGAGGGGGAGAAAAGTAAGTAAAGAAATAAAGGAACAAAGTTATAATAGAGACTAAAGGGGGGCGTGTGGTGGGTGGGGGGTGGGTGTTGCTAATTTAGACTGAGTGGCCAGGAAAAGCCTCACCAGGGAGGTGACAGATAAGCCGAGATCTAAATGGCAAGAAGGAATGAGTCACATGAAGACCTACAGTCAGAGCAATCCAGGGCAAAGGCAAAGTGCAAAGATAGCACATTTGGCATATCTATGGCACAGAAAGAAGGCCTGTGCGGATGAAGGGTGATAAACTGGCATGAGAATCATAAGAGATGAGAATGGCAAGGCAAGGAGAAACCAAATCACAGAGTCCTGTAGGCCTGGTAAGGGGTTTGGGTTTTATTCCAAGTGGGATGAAGAGCCACTGAAGGATTTTAAGCAGTAAACAATGACAATTTGACTTACATTTTTAAAAGATATGTTTCTCTGTGAATAAATAAATAAGAGTAGAAGCAGAATCACCAGTCAGAAATTTGCCTTAATCCAAGCAAGGAATGATAGTGGCTTCATCTAACATAGCAGTGGTAAAGATCAAAATCAATAGTTTGTGACATTATATTCTGGACATTATCACATCAACATTTTTGGAAACAAATTCTGGTAGCTGTGTGGAGAACAACTTGAAGGTAGTGGCAAAAACAGAAGCAGAAAAGCCAGTTAGGAGACTATTGTCATAATCTAATAGCAAAATAACACATAGGGGAGAGTAGGAGGAATGACGTATGAGAACACGTTAAAAATAGAGGATATTTTTCTCCAGAAAGATGAGGGTTCTTTAATCTTTGAAACAATCCTGTGAGGTTGGTATCATTAACCCATTTTACAAATAGAAGGAAACTGGAGCAGAGATAAACCAAGTAATTTGCCCAAAGTTACACAAAGGTAAGCCAAGACCTCAACTCTTGGTGAAAACCCATGCTGTTTTCACATATCATGCCAGGTCTTTCCTCAAAGGGAAGAGGCCAGACAACAAAGCTGACTTCAGAAAACATCATGGCAAAATAGCAAAAACAAACGAACAAATGAACAAAGGAAAAAACAAAAAGAAAACATCATGGCATAAAGACAGAGGGAAAGCTCTGGAGGCCCCTGGAAGGAAGGAGTTAAATGATAATCCCTGCAGGCCATCGTTCTTGTAGGATGGGAAGCCTTGGGATTAGTCTCTGGGGCAGGCCTGATTCAATGACTCTGTGGGGCTGGGTCTTAGGTACCCCATCTGGGAGAACTGCGAAGAGGAAGAGAAAACAAATCCAGGACTACAGACCCCACAGTTCTCTCGCTGCCACTTCAAGTCACGAAATGACAGCATTATTCACATCCTTGTGGAGGTGACCACAGCCCCGGGTACTGTTCACAGCTACCTGGGCTCCCCTTTCTGGATCCACCAGGCTGGTAAGAACTTTCTTCCTCATTCTTCCCACATAGTTCCCACCCCCACTGAATCTGACCCTGTGCCCAGGATCCCCAACTCTGACCCTTCTGACCGATGGCTCTGGTGGCACAATGCCTTGTGCACAGAAGGACTTAAGCTGCTCCCTGCTGACATCCCTGTAGTGCGCCTCCCCACCCCAAACTTGCACTGGAGGGAGATCTCCAGTGGGCATCTGGAATTGGAGTGGCAGCACCCATCGTCCTGGGCAGCCCAAGAGACCTGTTATCAACTCCGATACACAGGAGAAGGCCATCAGGACTGGAAGGTATGGTCAAGCAACAAATGCCCACAGACCTCACTACGCAGGGGATCCCTGGGGTTGGCCATGCCTGTTAGCAGGAGTGAAAGTGTCTATGTATCCAGTCTCTGCTAGTATATCTATGTTTATCAGATTCAACTGGTATCTTAGTCTCTCTTGGGCATCTGATATTTCTGGCTACTCCTACTTAACATTTCTCTTCCCTTTGTCTTTGGGATATCAGTCTTCCCCGATTTTCCTCCTACCTCTCTGACTGAACTTTCTCACTCTCCTCTCCTGGCTCCTCCTTTCCAGCCTTCCACAAAATGCTGTGCTTCCTAGAGTCTCATCCTAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCATTTGCCACACATATATACAACTATGTACAACATCTTATGGTTCTACCAAAACTTCCTCCCCCTGGACATTTCAGACTCAGTCTATCCAGAATGGAACTCCTCTTCCTCCTGAAGCTTTACTTTTTTATTGTGATAAAACTTACATACAACAAAGTGTACAAATTTTACATATATAGTCTGTACTTGTGTATACATCCACATAACCATAACCAGGATCAAGATATAAATTATTTCCAGCACCTCAGAAGCTCCCAATGCTCCGACACATCCCCCGCCACCAAAGGTAATCACCATCCTGACATTACCATTGATTCATTTGGACTGTTGTTGAACTCTATAAAATGGAACCCTAAAGTATATCTTCCTCAAACTTACTTCTCTTCTGTGTCCTGTCTCTGACAATGGCACCGCTACTTACCCAGTACCCAAGCCTAGAAGCACCCTTGACTCTTCTTGCTCTTCCCTTATCCCTTCCCCTTACTCATCAACTAAGTTGATGGCAATAACGTACTAATAGTCCTCAAATTCCTACCAGGATTGCCTTAGACTCATCTGTGACCATCCAGCCGTGTCATCCATGCTTTTAGCACACTAAACTACTCTGTGGCACAAAACCAAGCATTAAATGCTTCTCTGGACTTCCGTGGTGCCTTGCACTAATTAATTGTTGTGATTATTTACCTGTTTGGATGTCTTTCTCATTAGATATGTAAGAGACGGTGTTTTATTGCTTTCTCCCCAGTGCCTAACCCAATGTTTGGAGTATCACACAGTTCATAAATGTTTGCTGCCTTCCTGCTTGTACACATGATGCTTGTACCCCAGCGCCTAACGCAAATCTGGCATCCTCTGCAGCATGAGTATTATTTGTGGCATGGTCTGTGTGGCTCTGAATATATCTGTTTCTGGGGGTGTCCATCGCCCGACCTGGAGTTGTGAGAACACCCGGTAGGGTGTGCGTGTACCGGGATCCCTGCCGAGGGTGTACCTGGGTGTTGGTGTTAGGATACGTAGCTCTCTGAGGTGAGGTCTGTGTCTCAGGAGGTGGGCCTGGCACGTTTCTCTCGGGCAGAGCGTGATCCCGTTAGGGAGAGGCTCTCGGTTAGGGCGCTCTATCCTGTTGCTGGGAAGCGTGTTTTCTGCCGGTGGGGCTCTTTGTGGGAATCTCCGACCGCCTGGGGATTCGGAGCTGCAGGATTTGGGTCAAACAGACGCTGGGCTATCGAAGCCCCGACGCCGGGCCACCGCACGCTTCTTTGCTCAGGTGCTGGAGCCGCCTCTCGGGGCCCGAGGAGGGACCCTGGAGCTGCGCCCGCGATCTCGCTACCGTTTACAGCTGCGCGCCAGGCTCAACGGCCCCACCTACCAAGGT 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CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAGAAATTAGTCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGGACCCAAGAGGCAGAGGCTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTGTCTCAAAACATTTTTAAAAATAAATAAAGTGGAAAGGGTTCCAGCATTGTTGGGGCTTACATTAGTAGAGGGGAGGGGAAAAGGAGGGGGAGAAAAGTAAGTAAAGAAATAAAGGAACAAAGTTATAATAGAGACTAAAGGGGGGCGTGTGGTGGGTGGGGGGTGGGTGTTGCTAATTTAGACTGAGTGGCCAGGAAAAGCCTCACCAGGGAGGTGACAGATAAGCCGAGATCTAAATGGCAAGAAGGAATGAGTCACATGAAGACCTACAGTCAGAGCAATCCAGGGCAAAGGCAAAGTGCAAAGATAGCACATTTGGCATATCTATGGCACAGAAAGAAGGCCTGTGCGGATGAAGGGTGATAAACTGGCATGAGAATCATAAGAGATGAGAATGGCAAGGCAAGGAGAAACCAAATCACAGAGTCCTGTAGGCCTGGTAAGGGGTTTGGGTTTTATTCCAAGTGGGATGAAGAGCCACTGAAGGATTTTAAGCAGTAAACAATGACAATTTGACTTACATTTTTAAAAGATATGTTTCTCTGTGAATAAATAAATAAGAGTAGAAGCAGAATCACCAGTCAGAAATTTGCCTTAATCCAAGCAAGGAATGATAGTGGCTTCATCTAACATAGCAGTGGTAAAGATCAAAATCAATAGTTTGTGACATTATATTCTGGACATTATCACATCAACATTTTTGGAAACAAATTCTGGTAGCTGTGTGGAGAACAACTTGAAGGTAGTGGCAAAAACAGAAGCAGAAAAGCCAGTTAGGAGACTATTGTCATAATCTAATAGCAAAATAACACATAGGGGAGAGTAGGAGGAATGACGTATGAGAACACGTTAAAAATAGAGGATATTTTTCTCCAGAAAGATGAGGGTTCTTTAATCTTTGAAACAATCCTGTGAGGTTGGTATCATTAACCCATTTTACAAATAGAAGGAAACTGGAGCAGAGATAAACCAAGTAATTTGCCCAAAGTTACACAAAGGTAAGCCAAGACCTCAACTCTTGGTGAAAACCCATGCTGTTTTCACATATCATGCCAGGTCTTTCCTCAAAGGGAAGAGGCCAGACAACAAAGCTGACTTCAGAAAACATCATGGCAAAATAGCAAAAACAAACGAACAAATGAACAAAGGAAAAAACAAAAAGAAAACATCATGGCATAAAGACAGAGGGAAAGCTCTGGAGGCCCCTGGAAGGAAGGAGTTAAATGATAATCCCTGCAGGCCATCGTTCTTGTAGGATGGGAAGCCTTGGGATTAGTCTCTGGGGCAGGCCTGATTCAATGACTCTGTGGGGCTGGGTCTTAGGTACCCCATCTGGGAGAACTGCGAAGAGGAAGAGAAAACAAATCCAGGACTACAGACCCCACAGTTCTCTCGCTGCCACTTCAAGTCACGAAATGACAGCATTATTCACATCCTTGTGGAGGTGACCACAGCCCCGGGTACTGTTCACAGCTACCTGGGCTCCCCTTTCTGGATCCACCAGGCTGGTAAGAACTTTCTTCCTCATTCTTCCCACATAGTTCCCACCCCCACTGAATCTGACCCTGTGCCCAGGATCCCCAACTCTGACCCTTCTGACCGATGGCTCTGGTGGCACAATGCCTTGTGCACAGAAGGACTTAAGCTGCTCCCTGCTGACATCCCTGTAGTGCGCCTCCCCACCCCAAACTTGCACTGGAGGGAGATCTCCAGTGGGCATCTGGAATTGGAGTGGCAGCACCCATCGTCCTGGGCAGCCCAAGAGACCTGTTATCAACTCCCATACACAGGAGAAGGCCATCAGGACTGGAAGGTATGGTCAAGCAACAAATGCCCACAGACCTCACTACGCAGGGGATCCCTGGGGTTGGCCATGCCTGTTAGCAGGAGTGAAAGTGTCTATGTATCCAGTCTCTGCTAGTATATCTATGTTTATCAGATTCAACTGGTATCTTAGTCTCTCTTGGGCATCTGATATTTCTGGCTACTCCTACTTAACATTTCTCTTCCCTTTGTCTTTGGGATATCAGTCTTCCCCGATTTTCCTCCTACCTCTCTGACTGAACTTTCTCACTCTCCTCTCCTGGCTCCTCCTTTCCAGCCTTCCACAAAATGCTGTGCTTCCTAGAGTCTCATCCTAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCATTTGCCACACATATATACAACTATGTACAACATCTTATGGTTCTACCAAAACTTCCTCCCCCTGGACATTTCAGACTCAGTCTATCCAGAATGGAACTCCTCTTCCTCCTGAAGCTTTACTTTTTTATTGTGATAAAACTTACATACAACAAAGTGTACAAATTTTACATATATAGTCTGTACTTGTGTATACATCCACATAACCATAACCAGGATCAAGATATAAATTATTTCCAGCACCTCAGAAGCTCCCAATGCTCCGACACATCCCCCGCCACCAAAGGTAATCACCATCCTGACATTACCATTGATTCATTTGGACTGTTGTTGAACTCTATAAAATGGAACCCTAAAGTATATCTTCCTCAAACTTACTTCTCTTCTGTGTCCTGTCTCTGACAATGGCACCGCTACTTACCCAGTACCCAAGCCTAGAAGCACCCTTGACTCTTCTTGCTCTTCCCTTATCCCTTCCCCTTACTCATCAACTAAGTTGATGGCAATAACGTACTAATAGTCCTCAAATTCCTACCAGGATTGCCTTAGACTCATCTGTGACCATCCAGCCGTGTCATCCATGCTTTTAGCACACTAAACTACTCTGTGGCACAAAACCAAGCATTAAATGCTTCTCTGGACTTCCGTGGTGCCTTGCACTAATTAATTGTTGTGATTATTTACCTGTTTGGATGTCTTTCTCATTAGATATGTAAGAGACGGTGTTTTATTGCTTTCTCCCCAGTGCCTAACCCAATGTTTGGAGTATCACACAGTTCATAAATGTTTGCTGCCTTCCTGCTTGTACACATGATGCTTGTACCCCAGCGCCTAACGCAAATCTGGCATCCTCTGCAGCATGAGTATTATTTGTGGCATGGTCTGTGTGGCTCTGAATATATCTGTTTCTGGGGGTGTCCATCGCCCGACCTGGAGTTGTGAGAACACCCGGTAGGGTGTGCGTGTACCGGGATCCCTGCCGAGGGTGTACCTGGGTGTTGGTGTTAGGATACGTAGCTCTCTGAGGTGAGGTCTGTGTCTCAGGAGGTGGGCCTGGCACGTTTCTCTCGGGCAGAGCGTGATCCCGTTAGGGAGAGGCTCTCGGTTAGGGCGCTCTATCCTGTTGCTGGGAAGCGTGTTTTCTGCCGGTGGGGCTCTTTGTGGGAATCTCCGACCGCCTGGGGATTCGGAGCTGCAGGATTTGGGTCAAACAGACGCTGGGCTATCGAAGCCCCGACGCCGGGCCACCGCACGCTTCTTTGCTCAGGTGCTGGAGCCGCCTCTCGGGGCCCGAGGAGGGACCCTGGAGCTGCGCCCGCGATCTCGCTACCGTTTACAGCTGCGCGCCAGGCTCAACGGCCCCACCTACCAAGGT 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Task1_train_808 | Gene MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | TAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCATTTGCCACACATATATACAACTATGTACAACATCTTATGGTTCTACCAAAACTTCCTCCCCCTGGACATTTCAGACTCAGTCTATCCAGAATGGAACTCCTCTTCCTCCTGAAGCTTTACTTTTTTATTGTGATAAAACTTACATACAACAAAGTGTACAAATTTTACATATATAGTCTGTACTTGTGTATACATCCACATAACCATAACCAGGATCAAGATATAAATTATTTCCAGCACCTCAGAAGCTCCCAATGCTCCGACACATCCCCCGCCACCAAAGGTAATCACCATCCTGACATTACCATTGATTCATTTGGACTGTTGTTGAACTCTATAAAATGGAACCCTAAAGTATATCTTCCTCAAACTTACTTCTCTTCTGTGTCCTGTCTCTGACAATGGCACCGCTACTTACCCAGTACCCAAGCCTAGAAGCACCCTTGACTCTTCTTGCTCTTCCCTTATCCCTTCCCCTTACTCATCAACTAAGTTGATGGCAATAACGTACTAATAGTCCTCAAATTCCTACCAGGATTGCCTTAGACTCATCTGTGACCATCCAGCCGTGTCATCCATGCTTTTAGCACACTAAACTACTCTGTGGCACAAAACCAAGCATTAAATGCTTCTCTGGACTTCCGTGGTGCCTTGCACTAATTAATTGTTGTGATTATTTACCTGTTTGGATGTCTTTCTCATTAGATATGTAAGAGACGGTGTTTTATTGCTTTCTCCCCAGTGCCTAACCCAATGTTTGGAGTATCACACAGTTCATAAATGTTTGCTGCCTTCCTGCTTGTACACATGATGCTTGTACCCCAGCGCCTAACGCAAATCTGGCATCCTCTGCAGCATGAGTATTATTTGTGGCATGGTCTGTGTGGCTCTGAATATATCTGTTTCTGGGGGTGTCCATCGCCCGACCTGGAGTTGTGAGAACACCCGGTAGGGTGTGCGTGTACCGGGATCCCTGCCGAGGGTGTACCTGGGTGTTGGTGTTAGGATACGTAGCTCTCTGAGGTGAGGTCTGTGTCTCAGGAGGTGGGCCTGGCACGTTTCTCTCGGGCAGAGCGTGATCCCGTTAGGGAGAGGCTCTCGGTTAGGGCGCTCTATCCTGTTGCTGGGAAGCGTGTTTTCTGCCGGTGGGGCTCTTTGTGGGAATCTCCGACCGCCTGGGGATTCGGAGCTGCAGGATTTGGGTCAAACAGACGCTGGGCTATCGAAGCCCCGACGCCGGGCCACCGCACGCTTCTTTGCTCAGGTGCTGGAGCCGCCTCTCGGGGCCCGAGGAGGGACCCTGGAGCTGCGCCCGCGATCTCGCTACCGTTTACAGCTGCGCGCCAGGCTCAACGGCCCCACCTACCAAGGTCCCTGGAGCTCGTGGTCGGACCCAACTAGGGTGGAGACCGCCACCGAGACCGGTGAGGCAAGCCCCGGCCGCACCAAAGCCGCACAGCGCCTGCGCCAGGGACTGGGCGCCGGGTGCGAGTGGGGCGGGGCTCGGAGAGGGGCGAGGCGCGGGGCGCGGAGAGGGGCGGGGCCCTGACCTTGCGGGCCGACGGCTGCGCAGGTGCCCGCAGTGCCCAGGGGCGGCGAGGGGCGGGGCCAGAGTAGGGGCTGGCTGGATGAGGGCGGGGCTCCGGCCCGGGTGGGCCGAAGTCTGACCCTTTTTGTCTCCTAGCCTGGATCTCCTTGGTGACCGCTCTGCATCTAGTGCTGGGCCTCAGCGCCGTCCTGGGCCTGCTGCTGCTGAGGTGGCAGTTTCCTGCACACTACAGGTACCGCCCCCGCCAGGCAGGAGACTGGCGGTGGACCAGGTGGAGCCGAAGGCCTGTAAACAGGCATTCTTGGTTCGCTCTGTGACCCCAGATCTCCGTCCACCGCCCGTGCGCACCTACGGCTTCGCCACTTCCTGCACGTCACCTCTGGGACTCGCCGCGGCTCCTTACACTCTAACACGCCCACTATACCGCCCACCTCGAACAGCCCCGCCTCCTGCTGCTCACCTCGGCGACTAGGCCACCGTCCACCCTTCAGCCAAACTGCCCACTCCACCCCCATCCAATCTGCCGTCAGGTCCCACCTCCTAAACCTAGTCCAAACAATGGCCCCCTTTCTCTAGCCCTACAGACACGACCTGACTCACTGAAACAGAACCTCTTGCCCCTCCGATCTAGCCTCACACAGCCACCAGAATAATCTTTCTAAAATGCGCACATGAACCTATCAATTCCCTCCTTAAATCCTTTCAATAGCTCCCAGGATATAGTCCAGGCTCCCTATGATGACAAGCGAGGCTCTGCAAAATCGGCCCCTGCCAGCAAGCACTTCAGCCTGTTCTACCCTGTGCATCAGCCTTTCCAAACTGGTTTTCTCCACAAGTCAGGTTTTACTTCTCAGTGCCTTTGCACATAACGTCCGCTCTGCCTGAAATAGCCTCCCTGTCTCACTAAACCCATTCATCTGTAAATAACTTTCTTCACCAACTCTTAAGAAACCTTTCCTGACCCTCCCCCTTTTGGCCGCTGCTCTGTGCTCCAATACAGTACCAGTAGTGTTTTACTGTGTTTATTTCTTTATATATCTTCCCTATTATACCTTACTTGGTCATCTTTAAATCCTTAGCACAGTGCCTGCCAAAAAGCAGGCCCTTAAATAAATGTTATTAATGAGTGACTCATTTATGTGGGAAGACGAAGGCTGAGGAGAAATGCCATTGGAGGCTATAAACATGAAGGGTAGAATGCATCCCACCTCCATCCTTCATCTGCTGCTTCTTTAAGACTTAGCTCAGAAGTCATCTCCTCCAGATGGTGTCTTCTGATGGTCCTGGGCTGGTTCAGGTGCCACTCTCATGGGCTACCATCTCCCTCTGAACATACCTCTCTTTGAACTTTTAATCTGCCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTGCTGAGCCAGGCATACTCAGTTTCTTTTCCCCAATTTACCAGGTAAGTCACACCTTCTCCCCTGGAGAGATATGAGTGAGGTCACTGAAGCGGCCTGAAATGTTCTACTGACGTCCCTCCACATGGAAATATGAAGCTAAAGAATCCAGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTAC | TAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCATTTGCCACACATATATACAACTATGTACAACATCTTATGGTTCTACCAAAACTTCCTCCCCCTGGACATTTCAGACTCAGTCTATCCAGAATGGAACTCCTCTTCCTCCTGAAGCTTTACTTTTTTATTGTGATAAAACTTACATACAACAAAGTGTACAAATTTTACATATATAGTCTGTACTTGTGTATACATCCACATAACCATAACCAGGATCAAGATATAAATTATTTCCAGCACCTCAGAAGCTCCCAATGCTCCGACACATCCCCCGCCACCAAAGGTAATCACCATCCTGACATTACCATTGATTCATTTGGACTGTTGTTGAACTCTATAAAATGGAACCCTAAAGTATATCTTCCTCAAACTTACTTCTCTTCTGTGTCCTGTCTCTGACAATGGCACCGCTACTTACCCAGTACCCAAGCCTAGAAGCACCCTTGACTCTTCTTGCTCTTCCCTTATCCCTTCCCCTTACTCATCAACTAAGTTGATGGCAATAACGTACTAATAGTCCTCAAATTCCTACCAGGATTGCCTTAGACTCATCTGTGACCATCCAGCCGTGTCATCCATGCTTTTAGCACACTAAACTACTCTGTGGCACAAAACCAAGCATTAAATGCTTCTCTGGACTTCCGTGGTGCCTTGCACTAATTAATTGTTGTGATTATTTACCTGTTTGGATGTCTTTCTCATTAGATATGTAAGAGACGGTGTTTTATTGCTTTCTCCCCAGTGCCTAACCCAATGTTTGGAGTATCACACAGTTCATAAATGTTTGCTGCCTTCCTGCTTGTACACATGATGCTTGTACCCCAGCGCCTAACGCAAATCTGGCATCCTCTGCAGCATGAGTATTATTTGTGGCATGGTCTGTGTGGCTCTGAATATATCTGTTTCTGGGGGTGTCCATCGCCCGACCTGGAGTTGTGAGAACACCCGGTAGGGTGTGCGTGTACCGGGATCCCTGCCGAGGGTGTACCTGGGTGTTGGTGTTAGGATACGTAGCTCTCTGAGGTGAGGTCTGTGTCTCAGGAGGTGGGCCTGGCACGTTTCTCTCGGGCAGAGCGTGATCCCGTTAGGGAGAGGCTCTCGGTTAGGGCGCTCTATCCTGTTGCTGGGAAGCGTGTTTTCTGCCGGTGGGGCTCTTTGTGGGAATCTCCGACCGCCTGGGGATTCGGAGCTGCAGGATTTGGGTCAAACAGACGCTGGGCTATCGAAGCCCCGACGCCGGGCCACCGCACGCTTCTTTGCTCAGGTGCTGGAGCCGCCTCTCGGGGCCCGAGGAGGGACCCTGGAGCTGCGCCCGCGATCTCGCTACCGTTTACAGCTGCGCGCCAGGCTCAACGGCCCCACCTACCAAGGTCCCTGGAGCTCGTGGTCGGACCCAACTAGGGTGGAGACCGCCACCGAGACCGGTGAGGCAAGCCCCGGCCGCACCAAAGCCGCACAGCGCCTGCGCCAGGGACTGGGCGCCGGGTGCGAGTGGGGCGGGGCTCGGAGAGGGGCGAGGCGCGGGGCGCGGAGAGGGGCGGGGCCCTGACCTTGCGGGCCGACGGCTGCGCAGGTGCCCGCAGTGCCCAGGGGCGGCGAGGGGCGGGGCCAGAGTAGGGGCTGGCTGGATGAGGGCGGGGCTCCGGCCCGGGTGGGCCGAAGTCTGACCCTTTTTGTCTCCTAGCCTGGATCTCCTTGGTGACCGCTCTGCATCTAGTGCTGGGCCTCAACGCCGTCCTGGGCCTGCTGCTGCTGAGGTGGCAGTTTCCTGCACACTACAGGTACCGCCCCCGCCAGGCAGGAGACTGGCGGTGGACCAGGTGGAGCCGAAGGCCTGTAAACAGGCATTCTTGGTTCGCTCTGTGACCCCAGATCTCCGTCCACCGCCCGTGCGCACCTACGGCTTCGCCACTTCCTGCACGTCACCTCTGGGACTCGCCGCGGCTCCTTACACTCTAACACGCCCACTATACCGCCCACCTCGAACAGCCCCGCCTCCTGCTGCTCACCTCGGCGACTAGGCCACCGTCCACCCTTCAGCCAAACTGCCCACTCCACCCCCATCCAATCTGCCGTCAGGTCCCACCTCCTAAACCTAGTCCAAACAATGGCCCCCTTTCTCTAGCCCTACAGACACGACCTGACTCACTGAAACAGAACCTCTTGCCCCTCCGATCTAGCCTCACACAGCCACCAGAATAATCTTTCTAAAATGCGCACATGAACCTATCAATTCCCTCCTTAAATCCTTTCAATAGCTCCCAGGATATAGTCCAGGCTCCCTATGATGACAAGCGAGGCTCTGCAAAATCGGCCCCTGCCAGCAAGCACTTCAGCCTGTTCTACCCTGTGCATCAGCCTTTCCAAACTGGTTTTCTCCACAAGTCAGGTTTTACTTCTCAGTGCCTTTGCACATAACGTCCGCTCTGCCTGAAATAGCCTCCCTGTCTCACTAAACCCATTCATCTGTAAATAACTTTCTTCACCAACTCTTAAGAAACCTTTCCTGACCCTCCCCCTTTTGGCCGCTGCTCTGTGCTCCAATACAGTACCAGTAGTGTTTTACTGTGTTTATTTCTTTATATATCTTCCCTATTATACCTTACTTGGTCATCTTTAAATCCTTAGCACAGTGCCTGCCAAAAAGCAGGCCCTTAAATAAATGTTATTAATGAGTGACTCATTTATGTGGGAAGACGAAGGCTGAGGAGAAATGCCATTGGAGGCTATAAACATGAAGGGTAGAATGCATCCCACCTCCATCCTTCATCTGCTGCTTCTTTAAGACTTAGCTCAGAAGTCATCTCCTCCAGATGGTGTCTTCTGATGGTCCTGGGCTGGTTCAGGTGCCACTCTCATGGGCTACCATCTCCCTCTGAACATACCTCTCTTTGAACTTTTAATCTGCCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTGCTGAGCCAGGCATACTCAGTTTCTTTTCCCCAATTTACCAGGTAAGTCACACCTTCTCCCCTGGAGAGATATGAGTGAGGTCACTGAAGCGGCCTGAAATGTTCTACTGACGTCCCTCCACATGGAAATATGAAGCTAAAGAATCCAGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTAC |
Task1_train_809 | The gene MPL (MPL proto-oncogene, thrombopoietin receptor), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Thrombocythemia 2 | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCTTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC 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Task1_train_810 | Mutation context: Chromosome 1, Gene MPL (MPL proto-oncogene, thrombopoietin receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital amegakaryocytic thrombocytopenia 1 | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC 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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCTTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC 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Task1_train_811 | Gene MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Primary myelofibrosis | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC 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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCTTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC 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Task1_train_812 | Assess the clinical impact of this variant on gene MPL (MPL proto-oncogene, thrombopoietin receptor), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital amegakaryocytic thrombocytopenia | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC 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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCTTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC 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Task1_train_813 | A variant was discovered on Chromosome 1, affecting MPL (MPL proto-oncogene, thrombopoietin receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Essential thrombocythemia | AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC 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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCTTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC 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Task1_train_814 | A change on Chromosome 1 affects gene CDC20 (cell division cycle 20). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Oocyte maturation defect 14 | GTGCCTCCTGTAGGGCAGTCTAAGCTTATCTTCCAGATAGGCAGGTTTGAATACCGATCCTTTTTCTTGACCTTAAGGAATTCATTCACCCTTTTCAACCTCATTTTCCCTGTTTGTAAAACAACAGCAAACGAGACAAACACACGTTACTTCCTTTCTAGCAGGGTTCCTACCCGGCGCCAAGCAAAAGTGGAATGTACCCTAAGTAGCTCTGGCCTTCTTCCTGCTCCCAAGCTTCCCAATTCCGTCCCCTGCCCCGCTGCCGCCCGCGGCTCTCCTTCCCCTTCTAGGAACGGCTCAAGCGCCTTGGGCACTCCATCGGGTTCTGCACCGAGTTCTGCATCATAAATACGACTCTCGTGTAGGATTTAAGTGTGAACTTCTGCAGGTTCTCGGACCCTGAAGCACCCGGGGCCAGACATTCCGAGCTCGCGGCGGTGGAAGGCACGCAAAAGGGCGAACCGAGACGACTCCAGGACGCTGAGGCAGCGCAGGCCCCACCCGGCCCCGCCCTGCCCCGCCCTGTCCCGGCCGGCTTTCCAGTACTAGTCCTCTGGCGCCGGCTCCCAGCCCCTCTCGTACCCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAAGGGGTCCCTTTCTGTCCCCTGAGCACCGTCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGT 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GTGCCTCCTGTAGGGCAGTCTAAGCTTATCTTCCAGATAGGCAGGTTTGAATACCGATCCTTTTTCTTGACCTTAAGGAATTCATTCACCCTTTTCAACCTCATTTTCCCTGTTTGTAAAACAACAGCAAACGAGACAAACACACGTTACTTCCTTTCTAGCAGGGTTCCTACCCGGCGCCAAGCAAAAGTGGAATGTACCCTAAGTAGCTCTGGCCTTCTTCCTGCTCCCAAGCTTCCCAATTCCGTCCCCTGCCCCGCTGCCGCCCGCGGCTCTCCTTCCCCTTCTAGGAACGGCTCAAGCGCCTTGGGCACTCCATCGGGTTCTGCACCGAGTTCTGCATCATAAATACGACTCTCGTGTAGGATTTAAGTGTGAACTTCTGCAGGTTCTCGGACCCTGAAGCACCCGGGGCCAGACATTCCGAGCTCGCGGCGGTGGAAGGCACGCAAAAGGGCGAACCGAGACGACTCCAGGACGCTGAGGCAGCGCAGGCCCCACCCGGCCCCGCCCTGCCCCGCCCTGTCCCGGCCGGCTTTCCAGTACTAGTCCTCTGGCGCCGGCTCCCAGCCCCTCTCGTACCCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAAGGGGTCCCTTTCTGTCCCCTGAGCACCGTCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTACAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGT 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Task1_train_815 | Gene CDC20 (cell division cycle 20) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Oocyte maturation defect 14 | ACCGATCCTTTTTCTTGACCTTAAGGAATTCATTCACCCTTTTCAACCTCATTTTCCCTGTTTGTAAAACAACAGCAAACGAGACAAACACACGTTACTTCCTTTCTAGCAGGGTTCCTACCCGGCGCCAAGCAAAAGTGGAATGTACCCTAAGTAGCTCTGGCCTTCTTCCTGCTCCCAAGCTTCCCAATTCCGTCCCCTGCCCCGCTGCCGCCCGCGGCTCTCCTTCCCCTTCTAGGAACGGCTCAAGCGCCTTGGGCACTCCATCGGGTTCTGCACCGAGTTCTGCATCATAAATACGACTCTCGTGTAGGATTTAAGTGTGAACTTCTGCAGGTTCTCGGACCCTGAAGCACCCGGGGCCAGACATTCCGAGCTCGCGGCGGTGGAAGGCACGCAAAAGGGCGAACCGAGACGACTCCAGGACGCTGAGGCAGCGCAGGCCCCACCCGGCCCCGCCCTGCCCCGCCCTGTCCCGGCCGGCTTTCCAGTACTAGTCCTCTGGCGCCGGCTCCCAGCCCCTCTCGTACCCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAAGGGGTCCCTTTCTGTCCCCTGAGCACCGTCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGTAAGTGGCTAGGTGAAAAGCCGGACATAAAAGGCCACATAATGTATGACTGAA 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ACCGATCCTTTTTCTTGACCTTAAGGAATTCATTCACCCTTTTCAACCTCATTTTCCCTGTTTGTAAAACAACAGCAAACGAGACAAACACACGTTACTTCCTTTCTAGCAGGGTTCCTACCCGGCGCCAAGCAAAAGTGGAATGTACCCTAAGTAGCTCTGGCCTTCTTCCTGCTCCCAAGCTTCCCAATTCCGTCCCCTGCCCCGCTGCCGCCCGCGGCTCTCCTTCCCCTTCTAGGAACGGCTCAAGCGCCTTGGGCACTCCATCGGGTTCTGCACCGAGTTCTGCATCATAAATACGACTCTCGTGTAGGATTTAAGTGTGAACTTCTGCAGGTTCTCGGACCCTGAAGCACCCGGGGCCAGACATTCCGAGCTCGCGGCGGTGGAAGGCACGCAAAAGGGCGAACCGAGACGACTCCAGGACGCTGAGGCAGCGCAGGCCCCACCCGGCCCCGCCCTGCCCCGCCCTGTCCCGGCCGGCTTTCCAGTACTAGTCCTCTGGCGCCGGCTCCCAGCCCCTCTCGTACCCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAAGGGGTCCCTTTCTGTCCCCTGAGCACCGTCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATGTATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGTAAGTGGCTAGGTGAAAAGCCGGACATAAAAGGCCACATAATGTATGACTGAA 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Task1_train_816 | The variant affects gene CDC20 (cell division cycle 20), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Oocyte maturation defect 14 | CCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAAGGGGTCCCTTTCTGTCCCCTGAGCACCGTCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGTAAGTGGCTAGGTGAAAAGCCGGACATAAAAGGCCACATAATGTATGACTGAAATGTCCAGAATAAGCAAATCCAGAGAAAAAACACATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCAAAAAAAACAAAAAGGTAGGTGGGTGGCCCAGTGCCTC 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CCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAAGGGGTCCCTTTCTGTCCCCTGAGCACCGTCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACAACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGTAAGTGGCTAGGTGAAAAGCCGGACATAAAAGGCCACATAATGTATGACTGAAATGTCCAGAATAAGCAAATCCAGAGAAAAAACACATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCAAAAAAAACAAAAAGGTAGGTGGGTGGCCCAGTGCCTC 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Task1_train_817 | Gene CDC20 (cell division cycle 20) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Oocyte maturation defect 14 | TCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGTAAGTGGCTAGGTGAAAAGCCGGACATAAAAGGCCACATAATGTATGACTGAAATGTCCAGAATAAGCAAATCCAGAGAAAAAACACATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCAAAAAAAACAAAAAGGTAGGTGGGTGGCCCAGTGCCTCCTTTATGGCTATGGCTGCATCAGCATTCGTATGTACTGTTCTCATTTGCTCCAGGTCACACATCCCGGGTCCTGAGTCTGACCATGAGCCCAGATGGGGCCACAGTGGCATCCGCAGCAGCAGATGAGACCCTGAGGCTATGGCGCTGTTTTGAGTTGGACCCTGCGCGGCGGCGGGAGCGGGAGAAGGCCAGTGCAGCCAAAAGCAGCCTCATCCACCAAGGCATCCGCTGAAGACCAACCCATCACCTCAGTTGTTTTTTATTTTTCTAATAAAGTCATGTCTCCCTTCATGTTTTTTTTTTAAATCTGTTTCAGCTAATGCCTTTCTTCTTTCATGACCTATGTC 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TCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGCAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGTAAGTGGCTAGGTGAAAAGCCGGACATAAAAGGCCACATAATGTATGACTGAAATGTCCAGAATAAGCAAATCCAGAGAAAAAACACATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCAAAAAAAACAAAAAGGTAGGTGGGTGGCCCAGTGCCTCCTTTATGGCTATGGCTGCATCAGCATTCGTATGTACTGTTCTCATTTGCTCCAGGTCACACATCCCGGGTCCTGAGTCTGACCATGAGCCCAGATGGGGCCACAGTGGCATCCGCAGCAGCAGATGAGACCCTGAGGCTATGGCGCTGTTTTGAGTTGGACCCTGCGCGGCGGCGGGAGCGGGAGAAGGCCAGTGCAGCCAAAAGCAGCCTCATCCACCAAGGCATCCGCTGAAGACCAACCCATCACCTCAGTTGTTTTTTATTTTTCTAATAAAGTCATGTCTCCCTTCATGTTTTTTTTTTAAATCTGTTTCAGCTAATGCCTTTCTTCTTTCATGACCTATGTC 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Task1_train_818 | Given a variant located on Chromosome 1 and affecting ELOVL1 (ELOVL fatty acid elongase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCAAAAAAAACAAAAAGGTAGGTGGGTGGCCCAGTGCCTCCTTTATGGCTATGGCTGCATCAGCATTCGTATGTACTGTTCTCATTTGCTCCAGGTCACACATCCCGGGTCCTGAGTCTGACCATGAGCCCAGATGGGGCCACAGTGGCATCCGCAGCAGCAGATGAGACCCTGAGGCTATGGCGCTGTTTTGAGTTGGACCCTGCGCGGCGGCGGGAGCGGGAGAAGGCCAGTGCAGCCAAAAGCAGCCTCATCCACCAAGGCATCCGCTGAAGACCAACCCATCACCTCAGTTGTTTTTTATTTTTCTAATAAAGTCATGTCTCCCTTCATGTTTTTTTTTTAAATCTGTTTCAGCTAATGCCTTTCTTCTTTCATGACCTATGTCCCAGCAGCCTTCCTAGGGGCTCTACTCTACTGGGATCAGAGAGCTAGATATGTCCTGTGGGAGCCTGGACCATCCATCCCTCTTGTTTGTGGACAGGGCTAAGCGTGTTGTGTTCCCCCACCTCCTCTGTTCACATACGTATACACACAGCCTCCGTGGTTTCCTCTGTCACTTTTAATTAAGACACAAGTTGAGTAAGCAGCCTCCACAGGCTGTATTCCCAGGCCCCCGCCCACCCTGACCTTTGGCCCAGAAGCTACTGCTTCAGTGTGTGGGGTGGAGGAGTGAGACTGGGTCCACAGTGACATTATTGCTGACCTCTTCTGTGTGAGGAAAAAGGCCACGAGACCCTTTGTGGGGCCAGCCCTGAGTGCTCCTCTCCCAAGTTTTAAGGCAGGGAGGGGGAAATAACTGTACAGCCCTTTTAGCCCCCAGCTCTGGAGTGGCAGACAGCAATGAGGCCACATCCCTGGAGCTGCCCGGGGGAAGTGGGTGAGGAACCAAAGCCGTGGTCCCTGTAGAGCAGCTGTGGGGAGGGGAGGGCCAGTCCCCTGCTCAGTCCTGACCACATAAGCCTTGGTCACAGGTGTAGGTGGAGAGGGCACTGACGGACACTGCCCTAAGGTGCAGTCCTGAGGCACTTAGGTGGGCGCCTATCTAGGCCATGCTTCTCAGTTGGCCTTGACCTTGGCAATACCTGGAGCTCCATTTTGCTGAAGTGCACGGGGCAGCCGCTTGCCCTTGGTATAAGAGTGATACCAGAAGTTGGAGAACAGCATGAAGAAGATGGTGCCATACATCCAGATGAGGTGAATAATGACTGGGTACTGGTAGTTACAGCTGGACATAAAGTAGTACTGGGAGATGTGCAGTGAGACCAGGACAAACTGGATCTAGGATAGAGAAAGACCAGGGTCAGAGGGAATAGTGAGAGGACTAGAGGGGAAGAGGGGGTAGAGAAAGAGACAAACGTTGAGTAGGGAGAGATGGGGTCAAAGGTGAGACAGACTGGATAAAGGCAGGATCCAGGCTAGGAATGTGGGGGGATGGTTATAGGTAAGTCAGGCCAAGCCCCTCACCAGCTGAATGGCTGTCATGTGCTTTTTCCACCAAAGGTAGGGTTGTGCCACAGGGCCAAAGGCAGATAATCCGTAGTACAGGTACATTATGACATGCACGGAAGAGTTTATCATGGCATGGAAAGAGCCCATTCCTCCTGTGAGTGGACAATAAGACAGGGTCAGCAGAGTCCAGCCTCTGGTGCCCACCCTTTCCCATAGTGGCCTTCACCACTCACCCGGGGCAATCTTTACCCCCCACCACCAGCTCCAGGGAAGCACAGAGTGATGGAAGACATGTAGGAAGGTCACCTGCCCGTCTTTCTTTCGGAGAATAAAGATCACCTGAGAGAAGAGTGAGGGAAGGGGATTCAGAACCTGGGCTTCTCCACCTCATTCTCCCCTCAAGTTCTCACATCTCATATAACTACTCACTGTGTCCATCAGCTCAATGAACTTGGAGAAGAGGAAGAGCCAGGCCACCCGAACCATCTGCAAGAAGTTGGGATAGCCTTAGGACCTCATACACTATTCTAAGAGCCTCCCTAAACTGGGCCTTGAGCACAGGCCCCAAACTGGTCATATCTACCAGGTTGCTTATGACCTAGCCCCAGCCCCTACTTACCCTAAGTGCCTCAGGGCTGTTGGAATAGTCCACAGGGTCACAGCGCCAGGTATAGGTGCTCAGCCAGCCCGACATCAGGAACTGGGAAGGGATGTGGATTAGACCACCAGAGTTCTCCCTTCCCAGCCATCCCTCCCCTTCGCTAGCTGAGGACATGGATCTGAACCTCTCTGGAAAGGAGAAATGCCATGCTCTGGCTCTATGGCCTGCTCCTTATCCTGCTGACAGAAATTAAAGCCCGGCATCCCAGGGGCCCACCTCATAGACAATGTAGAGGGAGAGTGCCACCAGTGAGAAGTTGTAGACAATCATGAAGCCACGGAGCTGGAAGGGCTTCCGATTAGCCATGATGCGAGGCCCAAGTGAGAGAACGAAGTACACGTAGGTCAGGAGAATGGAGGTCATTAGCAAGGGGGACCCCATCAGAGGGTAGCCCTGGATCCGGGGATCTATGAATAAGGGTCAAAGGAATCAGGAAGAGTCACAGGGTTCGAAGGGTCTTCATTTGAAGGGTCTACAGACATGAGGTCAGGTCACAGGATCAAGGGTTTCATAGGAACTCTCCATTAGAAGACAGCCGTAGATCCAGGGATCCCGGGAAAGAAGGAAGGAAAGGGCTGGTGGATAGCGTCTTACCTGCGTGCTTCATCACCTCTTGGTACAAGTTCACAACAGCCTCCATCCTGGCTAAGGACTCTGGGGAGGTACAGAGGGCGGATGTCAGACAGATCCCACTGCACACCCCCATCCCACAGAGATAAGACACAGAACCAGACAAGACACCTGCAATGCCTCATTGCAGAAAGGACAGAACAGTGAAAGGAAGGAATTACTGGGAACTAGGGGGAGGAGGCAGTTTGGTTGAGGCATCTGCTCCCCACACATCCTGCTTGCCTGGGAAGAGCTGTTCCACCCTTCCTCTCCACACCTTACTCTCCTCTCCTCTCCACAGTTTTACTTCCTGGCCTCCCTTCCCCTCTTCCTCCACAAGATAACTCTCAATTCCAGGTCTCTTACTGGAGAATCTTACCTTCTCACCAACAGGGAGCTCTTGAACTCCGTCTCCCTTCCTCACCCGAGTCCCTCACCTCCCCAGCTCTGGGTCTTTCTTCTCTCCAGGGATTCTCCCCTTCAATCTCTCCTCTCCTGCCCTCTCCTCTTCCCATCCCTCTGGACCCTTCCTGAACTCTCTTCTCCCCAGGGTCCCTCCTGTCCCTGCCAGGACTCTCACCTCTCTGGGCCCTTCTGTCCCTCCAGAACCTTATCCTCGGATTCCTCCTTGCCTGTGCTGGGACACTTATGTCCCTACGATTCTCCTCTGCCTTTCCTGGGACTCTCACCTCCAGCCTCTCCTCTCCAGCGCTCTCCTCTCTCCTCTCGCAGAGCCCTTCCTCTCCTGGAGCCTGGCTCTTTGAGACTCCTGCCCCGGCGGCTCCACCTGTCTGACTAGATCTGGCAGCAGCCCCGCCCTCTGCCCGCCCCTGCTGTACTGTGCAGGGGGTGGAGGGTGGGTCCGGGCCACAGGTCAGTGCCTGGGGGAGCAGGACCCACCAGGATTGGGAAAGCCA 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CATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCAAAAAAAACAAAAAGGTAGGTGGGTGGCCCAGTGCCTCCTTTATGGCTATGGCTGCATCAGCATTCGTATGTACTGTTCTCATTTGCTCCAGGTCACACATCCCGGGTCCTGAGTCTGACCATGAGCCCAGATGGGGCCACAGTGGCATCCGCAGCAGCAGATGAGACCCTGAGGCTATGGCGCTGTTTTGAGTTGGACCCTGCGCGGCGGCGGGAGCGGGAGAAGGCCAGTGCAGCCAAAAGCAGCCTCATCCACCAAGGCATCCGCTGAAGACCAACCCATCACCTCAGTTGTTTTTTATTTTTCTAATAAAGTCATGTCTCCCTTCATGTTTTTTTTTTAAATCTGTTTCAGCTAATGCCTTTCTTCTTTCATGACCTATGTCCCAGCAGCCTTCCTAGGGGCTCTACTCTACTGGGATCAGAGAGCTAGATATGTCCTGTGGGAGCCTGGACCATCCATCCCTCTTGTTTGTGGACAGGGCTAAGCGTGTTGTGTTCCCCCACCTCCTCTGTTCACATACGTATACACACAGCCTCCGTGGTTTCCTCTGTCACTTTTAATTAAGACACAAGTTGAGTAAGCAGCCTCCACAGGCTGTATTCCCAGGCCCCCGCCCACCCTGACCTTTGGCCCAGAAGCTACTGCTTCAGTGTGTGGGGTGGAGGAGTGAGACTGGGTCCACAGTGACATTATTGCTGACCTCTTCTGTGTGAGGAAAAAGGCCACGAGACCCTTTGTGGGGCCAGCCCTGAGTGCTCCTCTCCCAAGTTTTAAGGCAGGGAGGGGGAAATAACTGTACAGCCCTTTTAGCCCCCAGCTCTGGAGTGGCAGACAGCAATGAGGCCACATCCCTGGAGCTGCCCGGGGGAAGTGGGTGAGGAACCAAAGCCGTGGTCCCTGTAGAGCAGCTGTGGGGAGGGGAGGGCCAGTCCCCTGCTCAGTCCTGACCACATAAGCCTTGGTCACAGGTGTAGGTGGAGAGGGCACTGACGGACACTGCCCTAAGGTGCAGTCCTGAGGCACTTAGGTGGGCGCCTATCTAGGCCATGCTTCTCAGTTGGCCTTGACCTTGGCAATACCTGGAGCTCCATTTTGCTGAAGTGCACGGGGCAGCCGCTTGCCCTTGGTATAAGAGTGATACCAGAAGTTGGAGAACAGCATGAAGAAGATGGTGCCATACATCCAGATGAGGTGAATAATGACTGGGTACTGGTAGTTACAGCTGGACATAAAGTAGTACTGGGAGATGTGCAGTGAGACCAGGACAAACTGGATCTAGGATAGAGAAAGACCAGGGTCAGAGGGAATAGTGAGAGGACTAGAGGGGAAGAGGGGGTAGAGAAAGAGACAAACGTTGAGTAGGGAGAGATGGGGTCAAAGGTGAGACAGACTGGATAAAGGCAGGATCCAGGCTAGGAATGTGGGGGGATGGTTATAGGTAAGTCAGGCCAAGCCCCTCACCAGCTGAATGGCTGTCATGTGCTTTTTCCACCAAAGGTAGGGTTGTGCCACAGGGCCAAAGGCAGATAATCCGTAGTACAGGTACATTATGACATGCACGGAAGAGTTTATCATGGCATGGAAAAAGCCCATTCCTCCTGTGAGTGGACAATAAGACAGGGTCAGCAGAGTCCAGCCTCTGGTGCCCACCCTTTCCCATAGTGGCCTTCACCACTCACCCGGGGCAATCTTTACCCCCCACCACCAGCTCCAGGGAAGCACAGAGTGATGGAAGACATGTAGGAAGGTCACCTGCCCGTCTTTCTTTCGGAGAATAAAGATCACCTGAGAGAAGAGTGAGGGAAGGGGATTCAGAACCTGGGCTTCTCCACCTCATTCTCCCCTCAAGTTCTCACATCTCATATAACTACTCACTGTGTCCATCAGCTCAATGAACTTGGAGAAGAGGAAGAGCCAGGCCACCCGAACCATCTGCAAGAAGTTGGGATAGCCTTAGGACCTCATACACTATTCTAAGAGCCTCCCTAAACTGGGCCTTGAGCACAGGCCCCAAACTGGTCATATCTACCAGGTTGCTTATGACCTAGCCCCAGCCCCTACTTACCCTAAGTGCCTCAGGGCTGTTGGAATAGTCCACAGGGTCACAGCGCCAGGTATAGGTGCTCAGCCAGCCCGACATCAGGAACTGGGAAGGGATGTGGATTAGACCACCAGAGTTCTCCCTTCCCAGCCATCCCTCCCCTTCGCTAGCTGAGGACATGGATCTGAACCTCTCTGGAAAGGAGAAATGCCATGCTCTGGCTCTATGGCCTGCTCCTTATCCTGCTGACAGAAATTAAAGCCCGGCATCCCAGGGGCCCACCTCATAGACAATGTAGAGGGAGAGTGCCACCAGTGAGAAGTTGTAGACAATCATGAAGCCACGGAGCTGGAAGGGCTTCCGATTAGCCATGATGCGAGGCCCAAGTGAGAGAACGAAGTACACGTAGGTCAGGAGAATGGAGGTCATTAGCAAGGGGGACCCCATCAGAGGGTAGCCCTGGATCCGGGGATCTATGAATAAGGGTCAAAGGAATCAGGAAGAGTCACAGGGTTCGAAGGGTCTTCATTTGAAGGGTCTACAGACATGAGGTCAGGTCACAGGATCAAGGGTTTCATAGGAACTCTCCATTAGAAGACAGCCGTAGATCCAGGGATCCCGGGAAAGAAGGAAGGAAAGGGCTGGTGGATAGCGTCTTACCTGCGTGCTTCATCACCTCTTGGTACAAGTTCACAACAGCCTCCATCCTGGCTAAGGACTCTGGGGAGGTACAGAGGGCGGATGTCAGACAGATCCCACTGCACACCCCCATCCCACAGAGATAAGACACAGAACCAGACAAGACACCTGCAATGCCTCATTGCAGAAAGGACAGAACAGTGAAAGGAAGGAATTACTGGGAACTAGGGGGAGGAGGCAGTTTGGTTGAGGCATCTGCTCCCCACACATCCTGCTTGCCTGGGAAGAGCTGTTCCACCCTTCCTCTCCACACCTTACTCTCCTCTCCTCTCCACAGTTTTACTTCCTGGCCTCCCTTCCCCTCTTCCTCCACAAGATAACTCTCAATTCCAGGTCTCTTACTGGAGAATCTTACCTTCTCACCAACAGGGAGCTCTTGAACTCCGTCTCCCTTCCTCACCCGAGTCCCTCACCTCCCCAGCTCTGGGTCTTTCTTCTCTCCAGGGATTCTCCCCTTCAATCTCTCCTCTCCTGCCCTCTCCTCTTCCCATCCCTCTGGACCCTTCCTGAACTCTCTTCTCCCCAGGGTCCCTCCTGTCCCTGCCAGGACTCTCACCTCTCTGGGCCCTTCTGTCCCTCCAGAACCTTATCCTCGGATTCCTCCTTGCCTGTGCTGGGACACTTATGTCCCTACGATTCTCCTCTGCCTTTCCTGGGACTCTCACCTCCAGCCTCTCCTCTCCAGCGCTCTCCTCTCTCCTCTCGCAGAGCCCTTCCTCTCCTGGAGCCTGGCTCTTTGAGACTCCTGCCCCGGCGGCTCCACCTGTCTGACTAGATCTGGCAGCAGCCCCGCCCTCTGCCCGCCCCTGCTGTACTGTGCAGGGGGTGGAGGGTGGGTCCGGGCCACAGGTCAGTGCCTGGGGGAGCAGGACCCACCAGGATTGGGAAAGCCA 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Task1_train_819 | The following genetic variant occurs in SZT2 (SZT2 subunit of KICSTOR complex) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Self-limited epilepsy with centrotemporal spikes | TGAACCGTTATGCCCAGCTGTTATTGTTAACTTTTACTCTTACCAGGCATTGTGCTGAGCACTTCATATGCATGATATTCCTTGATCCACAGAACAGCACTTTAGATTGGTATTAGAATTCTCTATTTTACAAAGGAGGACATTGAAGCTTAAAGAGGTGATACAACCTTTCCACTGTCTCACAGCTAATAAGTGGATGAATTGGGATTCAAACCCAGACTTTCTGAACCTGAAATTCTTGAACTTGGCCTCTACAGAGTACTTTTTTTTTCTTACTTTTTATTTTATTGTATTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGATGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCCTTTTTTTTTCTTTTACATAGTACTTTTGCATATATCTTAGATGCTCAATAAATGTGAGTTCCTCCTTCTTGCCTTCTGCTATCATCCTTATCACTTTCCAGTACCTCTTTCTGTATCTTTTTACCCCTTCCTTCTGTCTTGGAGCAGAAGAAAGACTACAACTTCACAGCCATTGTATCTGTTCTCCACACTTTTCTCTGACATCAGAAACTCTTCATTATTGGTTTTCCAGGGCTTTTTCAGTCTTCTCTCCATGCATGTTTCCCCATTTTGGAAAAAATAATTCTTCACTTTCTTTCAACATCATGTTTCTCAACAGGTAGTTATTAACTTCTGTTCGTTTCTCCTCTACTACCTGCTCTTCAGTTCTTGCCACCTGGTGTTCTTTCCCTCATTAATCAGGGACACAGGAGGAGAAATTTGCCATTTGTGTAGGACAGACAAGAGAAAGGGAGTAATGAATGTGACAGATAAGCATTAATCAGGAAGAGACATTGGGGAGTTCAGACCAATTGACCTTTATTTCCTCAGTGAACTGTGGGCAAGTTTATCTGCTGGGAGGGGATTGAGAGATTGGAAAACCTCCTGTGGGGAACAGGAAAGGCTGCTGGCCAGGAGAATTCAGAGGACTGGTAAAGGCCTGCTAGAGTGGGCACTGCTGGCAAGGTGACAAGTTTCTTTCTGTCCAAGTGCAGCTGCCATAGTATATGTGTGGATAAGGGAAAATGTCAGATTCATCCCCAGATAAGATTTGACAGGACATGTGTAGTGGAAGGACAAGGACATGGGCAAGGGAACCGATGCTTGTTAGAGCATTGTTGAAGTGGCCACCTATGAGGCAATGGAGGCAAGAACTAGAGGGCTGACAACTGAGAAGTGCGGGGGTGGGGACTGTGACCCACAGAGGTTTGATTTTGAGGTATTTGGAAGGCTTGCTATTCCTTCGGTGAAAATTTCTTCGGTGCCTGCTGTTGTCAAGACTTGTTAGGAGTAACTGTCTGGCATTCGTGTAATGTATTAGGGACTTGTCCTGGTATTTGCTCTGTTTGTAGCAATTTGCCAAGCACAGGGGCACAAAAGTAGAATCAGACACAGCCCCTGCCCTCAAAAGCTTATAGTTTATAGGTGAAACTCACATAAACTTTGTGGAAACAATATGGAAAGGTCACTTCATCTATATGGAGGTCTGTATCGGGCAAACAGGAACAGAGAGTTGAGAATTGACTCCCTGGGAACACCTTGCATGGAGGTTGGGGTAAACTTTTCACTTCTGCTGTTTTCCCTCTCATTGATGGTGAGTTCCTTGGGCAAATTATTTGGACAGTGATCTGTGTGTTCCAGGTACTCGGTGCCATTTTTTAAAGATGTATTAATGTCTCTTTGTTCCCAGGTGGAAGAAGCTGGGCAGGTGTTCCTGTTAATGAAAAAGGATTATCGAATCTCCCGAAATGTTCGCCTGGCTTGGTTCCTCAGTCATCTGCACCAAACTGTGCAGGCCACACCCCAGGAGATGCTGGTGAGGCTTAGACACACGAAAGGTGTGAGGGGCCAGCCCAGAAGGATCTGTTTTTTAGGAGAGTGCTAGAAACAGACAGGGTGGGAGACTAACTCTTAAGTCTGGTTAGGGCAAGGGACTGCCTACAAGATGATGGAAATTTTAAAAAATAATTTTTCCAGAGAGTGAGAGGAAGAGTATACGGTTAGATTGAGGGAGGTAGAGCCAATGATGTGTCATTTGGGATATAGAAGGCAGGTCCTGGGAAGAAAGGGATACTTCGCTGATCCTTTCCTTTTCTTTCCATCCTAATTTTCAGCTTCAGTCTGAACAGGAATTGGAAGTCCTCAGTGTCCTGCCCCCTGGGTGGCAGCCAGATGAACCAGTGGTCCCAAGGCCATTCCTCCTGGTACCTTCCACCCGGGTCACCTTCCTGGCTTGGCAGTATCGGTTTGTCATTGAGTTGGACCTTAGCCCATCTACTGGCATTGTGGTAAAGGATTGAAGGGAGACTGTGGGAAGAAAGGATGGGGTGGGGTGTGAGGAGAGGGAGAGGCCTGTGGGGAAGTGAAAAATGGTCCCAGCCTACCATTTTGGAGAGAAGACAGGCTTATAAAGGAATGATGGGTGTTTAAAAAGAGCACTGGGCCAGCTGTGGTGACTCATGCCTACAATCCCAGTGCTTTGGGAAGCCAAGGCGGGCTGATTACTCGAGCTCAGGAGTTCGAGACTAGCCTGGGCCACATGGCAAAACTCCCTCTCTATAAAAAATACAAAAATTAGCCAGGCATGCTGGCATGCACCTGTCCTAGCTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTCGAGGCTACAGTGAGCCGGGATCAGGCCACTGCGCTCTAGCGTGGGCAACAAAGCAAGACCCTGGTTTTGTTGTTTTTGTTTCCAAAAAACACCCCAGAAACTGTTCCATGTGTGGCACTGTATTTGGGTGTGCGATCATCCATAAGTTAAGTGTCCTACTGACCCATGGAAGCTGCATGTTTCTGCCCTCTGGTTAGGGCTGCCTTTGGACCCCCTTGAGTGCTCTTTCTCTGCCCTCAGGATGATTCCACAGGGGAGATCTTGTTTGATGAAGTTTTCCATGCCCTGTCCCGCTGCTTAGGCGGGCTGCTTCGGCCCTTCCGAGTGCCTGGATCTTGCATCGACTTCCAGCCTGAGATCTATGTAACTATCCAGGCCTACTCCTCCATCATTGGACTGCAGTCCCACCAGGTATTGCATCATCTCTCCAAGTTTGTACCCTCAGACCAAATTTCTATTAGTCCTCTGACCAAGTCCTTATCCTGTCTCTGCTGTTTGTCCCCAAAGTCCCGAGCTCTGCTGGCTTCTTGAACCTGTTTTCTAGTCATCCTCATGAGTCTCTCTCTCCTTGAGAAGAACCAGTTCCTCTGGACTTAAAGGGCTTTCCTATAGACTTCGGGTCAGTTGGTGTTGATTGGACACCTGCCTTTTTCACTGCTCCTGTAAATCTCTTTGATTCTGACCACTGGATGTCTGTTTTCTCCATTCCCCTCTTCTCCTTTAGTTCTGTTGGATGGTTTGCTGATGCGCTGGCTCTGGCTAGTACCCTCAGGAGATGGTCTTTTGGAATAGTTTTGTGATTTTGAAAGACAGCACATAACCCAGAAATGTAATTGGTTTCAAGGATAGAGGAGGGTCATTTTTTGTTGTTGTCTTTTTTTGAGACGGAGTTTCGCTCTTTTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACGGGGATGATAGGCACTCACCACCAGGCCCAGCTTATTTATTTATTTATTTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCAGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACC 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TGAACCGTTATGCCCAGCTGTTATTGTTAACTTTTACTCTTACCAGGCATTGTGCTGAGCACTTCATATGCATGATATTCCTTGATCCACAGAACAGCACTTTAGATTGGTATTAGAATTCTCTATTTTACAAAGGAGGACATTGAAGCTTAAAGAGGTGATACAACCTTTCCACTGTCTCACAGCTAATAAGTGGATGAATTGGGATTCAAACCCAGACTTTCTGAACCTGAAATTCTTGAACTTGGCCTCTACAGAGTACTTTTTTTTTCTTACTTTTTATTTTATTGTATTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGATGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCCTTTTTTTTTCTTTTACATAGTACTTTTGCATATATCTTAGATGCTCAATAAATGTGAGTTCCTCCTTCTTGCCTTCTGCTATCATCCTTATCACTTTCCAGTACCTCTTTCTGTATCTTTTTACCCCTTCCTTCTGTCTTGGAGCAGAAGAAAGACTACAACTTCACAGCCATTGTATCTGTTCTCCACACTTTTCTCTGACATCAGAAACTCTTCATTATTGGTTTTCCAGGGCTTTTTCAGTCTTCTCTCCATGCATGTTTCCCCATTTTGGAAAAAATAATTCTTCACTTTCTTTCAACATCATGTTTCTCAACAGGTAGTTATTAACTTCTGTTCGTTTCTCCTCTACTACCTGCTCTTCAGTTCTTGCCACCTGGTGTTCTTTCCCTCATTAATCAGGGACACAGGAGGAGAAATTTGCCATTTGTGTAGGACAGACAAGAGAAAGGGAGTAATGAATGTGACAGATAAGCATTAATCAGGAAGAGACATTGGGGAGTTCAGACCAATTGACCTTTATTTCCTCAGTGAACTGTGGGCAAGTTTATCTGCTGGGAGGGGATTGAGAGATTGGAAAACCTCCTGTGGGGAACAGGAAAGGCTGCTGGCCAGGAGAATTCAGAGGACTGGTAAAGGCCTGCTAGAGTGGGCACTGCTGGCAAGGTGACAAGTTTCTTTCTGTCCAAGTGCAGCTGCCATAGTATATGTGTGGATAAGGGAAAATGTCAGATTCATCCCCAGATAAGATTTGACAGGACATGTGTAGTGGAAGGACAAGGACATGGGCAAGGGAACCGATGCTTGTTAGAGCATTGTTGAAGTGGCCACCTATGAGGCAATGGAGGCAAGAACTAGAGGGCTGACAACTGAGAAGTGCGGGGGTGGGGACTGTGACCCACAGAGGTTTGATTTTGAGGTATTTGGAAGGCTTGCTATTCCTTCGGTGAAAATTTCTTCGGTGCCTGCTGTTGTCAAGACTTGTTAGGAGTAACTGTCTGGCATTCGTGTAATGTATTAGGGACTTGTCCTGGTATTTGCTCTGTTTGTAGCAATTTGCCAAGCACAGGGGCACAAAAGTAGAATCAGACACAGCCCCTGCCCTCAAAAGCTTATAGTTTATAGGTGAAACTCACATAAACTTTGTGGAAACAATATGGAAAGGTCACTTCATCTATATGGAGGTCTGTATCGGGCAAACAGGAACAGAGAGTTGAGAATTGACTCCCTGGGAACACCTTGCATGGAGGTTGGGGTAAACTTTTCACTTCTGCTGTTTTCCCTCTCATTGATGGTGAGTTCCTTGGGCAAATTATTTGGACAGTGATCTGTGTGTTCCAGGTACTCGGTGCCATTTTTTAAAGATGTATTAATGTCTCTTTGTTCCCAGGTGGAAGAAGCTGGGCAGGTGTTCCTGTTAATGAAAAAGGATTATCGAATCTCCCGAAATGTTCGCCTGGCTTGGTTGCTCAGTCATCTGCACCAAACTGTGCAGGCCACACCCCAGGAGATGCTGGTGAGGCTTAGACACACGAAAGGTGTGAGGGGCCAGCCCAGAAGGATCTGTTTTTTAGGAGAGTGCTAGAAACAGACAGGGTGGGAGACTAACTCTTAAGTCTGGTTAGGGCAAGGGACTGCCTACAAGATGATGGAAATTTTAAAAAATAATTTTTCCAGAGAGTGAGAGGAAGAGTATACGGTTAGATTGAGGGAGGTAGAGCCAATGATGTGTCATTTGGGATATAGAAGGCAGGTCCTGGGAAGAAAGGGATACTTCGCTGATCCTTTCCTTTTCTTTCCATCCTAATTTTCAGCTTCAGTCTGAACAGGAATTGGAAGTCCTCAGTGTCCTGCCCCCTGGGTGGCAGCCAGATGAACCAGTGGTCCCAAGGCCATTCCTCCTGGTACCTTCCACCCGGGTCACCTTCCTGGCTTGGCAGTATCGGTTTGTCATTGAGTTGGACCTTAGCCCATCTACTGGCATTGTGGTAAAGGATTGAAGGGAGACTGTGGGAAGAAAGGATGGGGTGGGGTGTGAGGAGAGGGAGAGGCCTGTGGGGAAGTGAAAAATGGTCCCAGCCTACCATTTTGGAGAGAAGACAGGCTTATAAAGGAATGATGGGTGTTTAAAAAGAGCACTGGGCCAGCTGTGGTGACTCATGCCTACAATCCCAGTGCTTTGGGAAGCCAAGGCGGGCTGATTACTCGAGCTCAGGAGTTCGAGACTAGCCTGGGCCACATGGCAAAACTCCCTCTCTATAAAAAATACAAAAATTAGCCAGGCATGCTGGCATGCACCTGTCCTAGCTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTCGAGGCTACAGTGAGCCGGGATCAGGCCACTGCGCTCTAGCGTGGGCAACAAAGCAAGACCCTGGTTTTGTTGTTTTTGTTTCCAAAAAACACCCCAGAAACTGTTCCATGTGTGGCACTGTATTTGGGTGTGCGATCATCCATAAGTTAAGTGTCCTACTGACCCATGGAAGCTGCATGTTTCTGCCCTCTGGTTAGGGCTGCCTTTGGACCCCCTTGAGTGCTCTTTCTCTGCCCTCAGGATGATTCCACAGGGGAGATCTTGTTTGATGAAGTTTTCCATGCCCTGTCCCGCTGCTTAGGCGGGCTGCTTCGGCCCTTCCGAGTGCCTGGATCTTGCATCGACTTCCAGCCTGAGATCTATGTAACTATCCAGGCCTACTCCTCCATCATTGGACTGCAGTCCCACCAGGTATTGCATCATCTCTCCAAGTTTGTACCCTCAGACCAAATTTCTATTAGTCCTCTGACCAAGTCCTTATCCTGTCTCTGCTGTTTGTCCCCAAAGTCCCGAGCTCTGCTGGCTTCTTGAACCTGTTTTCTAGTCATCCTCATGAGTCTCTCTCTCCTTGAGAAGAACCAGTTCCTCTGGACTTAAAGGGCTTTCCTATAGACTTCGGGTCAGTTGGTGTTGATTGGACACCTGCCTTTTTCACTGCTCCTGTAAATCTCTTTGATTCTGACCACTGGATGTCTGTTTTCTCCATTCCCCTCTTCTCCTTTAGTTCTGTTGGATGGTTTGCTGATGCGCTGGCTCTGGCTAGTACCCTCAGGAGATGGTCTTTTGGAATAGTTTTGTGATTTTGAAAGACAGCACATAACCCAGAAATGTAATTGGTTTCAAGGATAGAGGAGGGTCATTTTTTGTTGTTGTCTTTTTTTGAGACGGAGTTTCGCTCTTTTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACGGGGATGATAGGCACTCACCACCAGGCCCAGCTTATTTATTTATTTATTTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCAGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACC 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Task1_train_820 | The gene SZT2 (SZT2 subunit of KICSTOR complex) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 18 | CCACATGAAGCCAAGAGCCAGCGTGTAGCCTATAGGCAGGTGAATGGAATAGAGTAAGTTACTGGAGATGAGAGTTAAGGAACTGAGAGGGCAGGGACTTGAATGAGTAATCTGGAGCAGGTCTGCAAACACTTTCTGCAAAGGCCAGTCAGTCTTTAAGCCTTGTGGGCCACTTGGTCCGTCACAGCTACTCAGCTCTGCTGTTGAAGCGTGAAAGCAGCCACAGACAATACAAAATGAATGTGTGTGGCTGTGTTCCAATAAAACTCGATTCACAAAAATAGGTGATGGACTAGATTTGGCCCTCAGGGTATATGTAGTTTGCTAATTTCCCACCTACAGCTATTGTATTCAAAATGTAGTCCACAGACCAGCAGAAAGCTTGTTTGAAATGCAGAATCTCAGGCCCCACCCCAGACCTACTGCATTTTAACAAAATCCCCAGGTGTTTTTCATACACCCTAAAGTTTGAGAAGTGTTGGTAAGCTGAAGTCTCTCAGGATGATGACAGGAAGTCAGTGAACCAGTTGCCAAAATCTTTAGTGAAGGAGGTGGTGGGCCTTTAGGTATCGAGGAGGAAGCAAAGAGGATGCTGTGGCCGGTTAGCATGGGCATCAGACAGAAGGGCTTAAGGAAGGAAAGACACAGACAGTGGTCTGTCCTGGGAAAACACTGGCCTACTTCCCACTCTGTGGTCCAGGGAATGGGAGCAGCCACCTAGCCCAGTCTCTTTCTCTCCTGTTCTTCCTTCTCCTATGCCTCTGTCAGAGCTAGGTCTTCAGTTGCTCACTTTTTCCAGGTGGGAGGAGTTTACTCTTATGACTGCAGTTTTGGCCATGTGCCCAATGTGGAATTAATGAAGTTCATCGCAATGGCAACATTTGGGTCCTACCTGTCCACTTGTCCTGAGCCGGAGCCAGGCAACCTGGGTCTGACTGTCTACCACCGGGCATTTCTCCTCTATTCCTTCCTGCGCAGTGGGGAAGCACTGAACCCTGAATATTACTGCGGTGAGAGGCACACTGAGGTGGGTGTGGGAAGGAGGGAATATAGAATGGGCCCAGAGATGATGGGGCCCTGGAGGACTGAAAGTGTAACTGGGGCTGGCTCTGCTGGCACTGTTACCTCACAGTCATTTCAGCATAGCCCCTTCCCCCTACAGATCTGTCAGTTGGCAGATAACCAGTTTCTCCTTCCCCATCTCCACTGGTCTTCCAGGCTCTCAGCACCGCCTATTTAATGAGCACCTGGTCTCTGCAAGCAGCAACCCTGCCCTGGCCTTGCGCCGGAAGAAGCACACTGAGAAGGAGGTGCCAGCCGACTTGGTCAGCACTGTGTCCGTACGGCTTCGAGAGGGCTACAGTGTCCGAGAGGTCACACTGGCCAAAGGTAAGGGTCATTAGGCCCTGCTGTAATCCCATAGATCTCTCAAGAATTTGTGTGTGGGAAGACCCACATGTATCACACATGAAAGAGTGTCACATTGAAGTCCTTATCACTTGAGACAGTGGGTTTTGAATTGTCATCAGGGCTTAATTCTCTTAGCATGGAGCTTCCCAATTCTATCTCCTTTTGCCCAAGGTGAACCAGCTGAGGGTGGTATAGGGTCCTGAACTTGGCTTAGTTTTCAGATTGTTTCTACAAACTTGTGTTTGTGTCAGTGGGCCAACTCTGGGCCTGAAACCTGTGGAACCATGCTTGGAACCTTTGGCAGGACTGGGTTCCATGAGGTAGGTGGGGGTTTCAGATAGAACTCGATCCCAGGCCTAGAGTCCTATGCCTTCTCCTAACTGGCCCTTCCGCTTCTCCCTAAGGAGGGTCCCAATTGGAGGTAAAGCTGGTGCTGCTGTGGAAACACAACATGCGCATTGAGTATGTGGCTATGGCACCCTGGCCCCTGGAGCCTGAGGGCCCTCGAGTAACACGGGTGGAAGTGACGATGGAAGGCGGCTACGACATTTTGCATGATGTGTCCTGTGCACTAAGGCAGCCCATTCGTTCATTGTATCGTACCCATGTTATCCGGCGTTTCTGGAACACGCTGCAGAGGTCAGTGAAGTCATCACTCAATGAGTGCTGCCCCATTTGTTGTATGGAGGGACAGATTTGCAAAGGCGGGAGCTGGGGAGCATCACCCAGAGAACCAGGCTTATATCCAGGGTCCCATGTCCCCCTAAGGCTCCCCTCATCTGCACCCAGCAGAGTCAGATATGGCTCAGGCCTGGCCCTTATTCTACAGCATCAACCAGACAGACCAGATGCTTGCCCACCTTCAGTCCTTCTCCTCAGTGCCTGAGCATTTCACGCTTCCTGACAGCACCAAGAGCGGAGTGCCACTCTTCTACATCCCTCCAGGCTCCACCACCCCGGTGAGTAGCTCTGAAGTATAGTAGCCCCATTTCATGTCAACTTGGGTTGCACAGCATCTGGAGCCCAGGACCACCACCTTCTATTCCTTTCTGTCTCACGTCTAAGGCACCTAAGCCAGAAGCCCAAGCTTTAACCTTGAGAGCTTCTCTTCTCCCTAAGGCCCCGGGGAAGAGGAGGATCTATACAGACAGGCTGTCCTGAACAGAGCACAGGTGGCAGAGGCAAAGACTCACACAGTGTCTAGGTGGTGGTATCCCAGTCCCAGCAGACCGTGAGCCCTTGCCCCATCTCCACGTGACATACTCTGGGCTTCCCCAGCCGCCTTCACCTGTGTGCATCCACCACCAGCCACCATGAACTGTGTACTCCCTGAAGACTACAGCTTCCTTGGTCCTGTGCTGTCTTCACACTCAGTCCACGCTGTCAGCCTAACACTGATGGGAAGGTGGCTTATGCTAGTGTGCAGTGGCCACATCATGAGGTCCTGCCACCATTTAGGGGCTTTTCTCCCAAGTCGGTGACATAAGCTGGGCTTATGGTTCCATCCTTCTGGATTCAGCTTTAAAGGGCTACACAGTCTGTCCCTGGGCTCAGTCATCCAAATCTAGCCTTCATAGTGGAAACAGTTTTTGCCTGTGCTTCAGGCTGGGCTGTAGCCTCAAACCACTGCTGTCTCTGACTCTCTGAACGGAGTCCACCCATGGTTTTGTTTGCTCTTTGGAGTTTGTACCCTGGTCCTCTGCAAATGCTCCTATAGTGCTGTCCTTCCTGTCCTCAGGTGCTCTCCCTCCAGCCCAGTGGTTCTGACTCATCCCATGCCCAGTTTGCTGCCTACTGGAAGCCAGTGCTGTCCATGGATGCAAATTCCTGGCAGCGATGGCTGCACATGCATCGCCTGGTGCTAATCCTGGAGCATGACACGTGGGTGCCCTTAGGGCTGGGCCATAGTTGGGGTGGAGTATCGGGGTCAGGGGGATAGGGAATGATGGGAAGGGGAGCAGCAGATGAGCTCTTACCAACTGTGGCCAAGGAAAAACTATAGCCTTTTCCTTGCCTCCCTGCTCTTCAGTCCCCATAACCTCAGGCAAGGCCTAGAAGAGAGTGATAGTAGTCTATTCCTTTTCTCCAAGCCTGGGGCCTGGAGGTCTAACCTCAGTCCACACCCCTCTTCCTAGACCAATCCCCAAGCACTTGCACACCCCGGGCAGCAATGGGCGCTACAGCACTATCCAGTGCAGGATCTCCCACTCCTCCCTGACCTCTCTGCTGCGGGACTGGAGCAGCTTCGTACTAGTCGAGGGCTATTCTTATGTTAAGCTGCTCTCCAGGTGGGCAAAGTGATGTCCCTTCACCCCCCGCCCCCCCACCCCCCCGCCACCTCATCCCATGTCTCCCTCTAACCCCAGACCTCACTGCTACTTCCTGCCAACCTTGGGCTGCTCACTGACTCCCATTTCTCCCCAGTGCCCCAGACCAGCCCCCCAATTCCTTCTACATGGTCCGTATCATTTCCAAGGCCCCATGCATGGTTCTTCGCCTGGGTTTTCCCATTGGCACACCAGCACCGGCCCGGCACAAGGTAAGCTGGGCCCTGACTGACTCTGACCAAGGAGCCCTAGGGTGTAGGATAGCTCCCTCTCCCCAAACCCCACAGGGCCAGGTCTAATAGAGGGAGGAGCCCCCAGACCAAGGAAGACCTGGAGAAGAGGGCTGTGTCTCACTTTGT 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CCACATGAAGCCAAGAGCCAGCGTGTAGCCTATAGGCAGGTGAATGGAATAGAGTAAGTTACTGGAGATGAGAGTTAAGGAACTGAGAGGGCAGGGACTTGAATGAGTAATCTGGAGCAGGTCTGCAAACACTTTCTGCAAAGGCCAGTCAGTCTTTAAGCCTTGTGGGCCACTTGGTCCGTCACAGCTACTCAGCTCTGCTGTTGAAGCGTGAAAGCAGCCACAGACAATACAAAATGAATGTGTGTGGCTGTGTTCCAATAAAACTCGATTCACAAAAATAGGTGATGGACTAGATTTGGCCCTCAGGGTATATGTAGTTTGCTAATTTCCCACCTACAGCTATTGTATTCAAAATGTAGTCCACAGACCAGCAGAAAGCTTGTTTGAAATGCAGAATCTCAGGCCCCACCCCAGACCTACTGCATTTTAACAAAATCCCCAGGTGTTTTTCATACACCCTAAAGTTTGAGAAGTGTTGGTAAGCTGAAGTCTCTCAGGATGATGACAGGAAGTCAGTGAACCAGTTGCCAAAATCTTTAGTGAAGGAGGTGGTGGGCCTTTAGGTATCGAGGAGGAAGCAAAGAGGATGCTGTGGCCGGTTAGCATGGGCATCAGACAGAAGGGCTTAAGGAAGGAAAGACACAGACAGTGGTCTGTCCTGGGAAAACACTGGCCTACTTCCCACTCTGTGGTCCAGGGAATGGGAGCAGCCACCTAGCCCAGTCTCTTTCTCTCCTGTTCTTCCTTCTCCTATGCCTCTGTCAGAGCTAGGTCTTCAGTTGCTCACTTTTTCCAGGTGGGAGGAGTTTACTCTTATGACTGCAGTTTTGGCCATGTGCCCAATGTGGAATTAATGAAGTTCATCGCAATGGCAACATTTGGGTCCTACCTGTCCACTTGTCCTGAGCCGGAGCCAGGCAACCTGGGTCTGACTGTCTACCACCGGGCATTTCTCCTCTATTCCTTCCTGCGCAGTGGGGAAGCACTGAACCCTGAATATTACTGCGGTGAGAGGCACACTGAGGTGGGTGTGGGAAGGAGGGAATATAGAATGGGCCCAGAGATGATGGGGCCCTGGAGGACTGAAAGTGTAACTGGGGCTGGCTCTGCTGGCACTGTTACCTCACAGTCATTTCAGCATAGCCCCTTCCCCCTACAGATCTGTCAGTTGGCAGATAACCAGTTTCTCCTTCCCCATCTCCACTGGTCTTCCAGGCTCTCAGCACCGCCTATTTAATGAGCACCTGGTCTCTGCAAGCAGCAACCCTGCCCTGGCCTTGCGCCGGAAGAAGCACACTGAGAAGGAGGTGCCAGCCGACTTGGTCAGCACTGTGTCCGTACGGCTTCGAGAGGGCTACAGTGTCCGAGAGGTCACACTGGCCAAAGGTAAGGGTCATTAGGCCCTGCTGTAATCCCATAGATCTCTCAAGAATTTGTGTGTGGGAAGACCCACATGTATCACACATGAAAGAGTGTCACATTGAAGTCCTTATCACTTGAGACAGTGGGTTTTGAATTGTCATCAGGGCTTAATTCTCTTAGCATGGAGCTTCCCAATTCTATCTCCTTTTGCCCAAGGTGAACCAGCTGAGGGTGGTATAGGGTCCTGAACTTGGCTTAGTTTTCAGATTGTTTCTACAAACTTGTGTTTGTGTCAGTGGGCCAACTCTGGGCCTGAAACCTGTGGAACCATGCTTGGAACCTTTGGCAGGACTGGGTTCCATGAGGTAGGTGGGGGTTTCAGATAGAACTCGATCCCAGGCCTAGAGTCCTATGCCTTCTCCTAACTGGCCCTTCCGCTTCTCCCTAAGGAGGGTCCCAATTGGAGGTAAAGCTGGTGCTGCTGTGGAAACACAACATGCGCATTGAGTATGTGGCTATGGCACCCTGGCCCCTGGAGCCTGAGGGCCCTCGAGTAACACGGGTGGAAGTGACGATGGAAGGCGGCTACGACATTTTGCATGATGTGTCCTGTGCACTAAGGCAGCCCATTCGTTCATTGTATCGTACCCATGTTATCCGGCGTTTCTGGAACACGCTGCAGATGTCAGTGAAGTCATCACTCAATGAGTGCTGCCCCATTTGTTGTATGGAGGGACAGATTTGCAAAGGCGGGAGCTGGGGAGCATCACCCAGAGAACCAGGCTTATATCCAGGGTCCCATGTCCCCCTAAGGCTCCCCTCATCTGCACCCAGCAGAGTCAGATATGGCTCAGGCCTGGCCCTTATTCTACAGCATCAACCAGACAGACCAGATGCTTGCCCACCTTCAGTCCTTCTCCTCAGTGCCTGAGCATTTCACGCTTCCTGACAGCACCAAGAGCGGAGTGCCACTCTTCTACATCCCTCCAGGCTCCACCACCCCGGTGAGTAGCTCTGAAGTATAGTAGCCCCATTTCATGTCAACTTGGGTTGCACAGCATCTGGAGCCCAGGACCACCACCTTCTATTCCTTTCTGTCTCACGTCTAAGGCACCTAAGCCAGAAGCCCAAGCTTTAACCTTGAGAGCTTCTCTTCTCCCTAAGGCCCCGGGGAAGAGGAGGATCTATACAGACAGGCTGTCCTGAACAGAGCACAGGTGGCAGAGGCAAAGACTCACACAGTGTCTAGGTGGTGGTATCCCAGTCCCAGCAGACCGTGAGCCCTTGCCCCATCTCCACGTGACATACTCTGGGCTTCCCCAGCCGCCTTCACCTGTGTGCATCCACCACCAGCCACCATGAACTGTGTACTCCCTGAAGACTACAGCTTCCTTGGTCCTGTGCTGTCTTCACACTCAGTCCACGCTGTCAGCCTAACACTGATGGGAAGGTGGCTTATGCTAGTGTGCAGTGGCCACATCATGAGGTCCTGCCACCATTTAGGGGCTTTTCTCCCAAGTCGGTGACATAAGCTGGGCTTATGGTTCCATCCTTCTGGATTCAGCTTTAAAGGGCTACACAGTCTGTCCCTGGGCTCAGTCATCCAAATCTAGCCTTCATAGTGGAAACAGTTTTTGCCTGTGCTTCAGGCTGGGCTGTAGCCTCAAACCACTGCTGTCTCTGACTCTCTGAACGGAGTCCACCCATGGTTTTGTTTGCTCTTTGGAGTTTGTACCCTGGTCCTCTGCAAATGCTCCTATAGTGCTGTCCTTCCTGTCCTCAGGTGCTCTCCCTCCAGCCCAGTGGTTCTGACTCATCCCATGCCCAGTTTGCTGCCTACTGGAAGCCAGTGCTGTCCATGGATGCAAATTCCTGGCAGCGATGGCTGCACATGCATCGCCTGGTGCTAATCCTGGAGCATGACACGTGGGTGCCCTTAGGGCTGGGCCATAGTTGGGGTGGAGTATCGGGGTCAGGGGGATAGGGAATGATGGGAAGGGGAGCAGCAGATGAGCTCTTACCAACTGTGGCCAAGGAAAAACTATAGCCTTTTCCTTGCCTCCCTGCTCTTCAGTCCCCATAACCTCAGGCAAGGCCTAGAAGAGAGTGATAGTAGTCTATTCCTTTTCTCCAAGCCTGGGGCCTGGAGGTCTAACCTCAGTCCACACCCCTCTTCCTAGACCAATCCCCAAGCACTTGCACACCCCGGGCAGCAATGGGCGCTACAGCACTATCCAGTGCAGGATCTCCCACTCCTCCCTGACCTCTCTGCTGCGGGACTGGAGCAGCTTCGTACTAGTCGAGGGCTATTCTTATGTTAAGCTGCTCTCCAGGTGGGCAAAGTGATGTCCCTTCACCCCCCGCCCCCCCACCCCCCCGCCACCTCATCCCATGTCTCCCTCTAACCCCAGACCTCACTGCTACTTCCTGCCAACCTTGGGCTGCTCACTGACTCCCATTTCTCCCCAGTGCCCCAGACCAGCCCCCCAATTCCTTCTACATGGTCCGTATCATTTCCAAGGCCCCATGCATGGTTCTTCGCCTGGGTTTTCCCATTGGCACACCAGCACCGGCCCGGCACAAGGTAAGCTGGGCCCTGACTGACTCTGACCAAGGAGCCCTAGGGTGTAGGATAGCTCCCTCTCCCCAAACCCCACAGGGCCAGGTCTAATAGAGGGAGGAGCCCCCAGACCAAGGAAGACCTGGAGAAGAGGGCTGTGTCTCACTTTGT 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Task1_train_821 | Mutation context: Chromosome 1, Gene SZT2 (SZT2 subunit of KICSTOR complex). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Self-limited epilepsy with centrotemporal spikes | TGCACGGTAAGTAGAAGCCAGGGCCTGCACCCTCATGCTCCCATTAACCTCTTCTCTCTGCTCCCACAGTACCTCTCTCCAGTGTTGTTAGAAGTAAGACTTGGGACTGAGAGCTTGGGTAGAGATCCAACTTGTATTCTTAGGTTGGTGGTTCCCGATCACTTCCCACATCTTACAGCTAAGCACATCACATTCAACTGTCTTATAGATGAGAGTCGAAAAGCTGATGGGGATTTTGGCTTCTCGCTGAGCATTAACAACATCTAAGGATCAGAGCAGCTTTAGAAGTTCGTGTATAAAAATAAAGCATAATAAGGCTGGGCGTGGTAGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTTAGGAGTTCGATACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCATTAAAAATACAAAAATTAGTTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTAATTGGGAGGCTGAGGCAGAAGAATCTTGAACCTGGGAGGTGGAGATTGCAGTGAATGAGATTGTGCCACTGCACTCCAGCTGGGGCAACAGAGCAAGACACTGTCTCAAAAAATAATAAGGCATAATAGCTAATATTTATCAAGTGCATACTATGTGGTAGGCACTGTTCTGGTGCTTACATGAATCCACTCATTTATCTACATAACCCTACGGCGTATTAATGTCCTTATCATATGGGTGAAGAAACTGAAGCACAGGCCAGTTAAATACTTGCCCAAGGCCACAGTAAGTGACAGAGCCAGGATTCCTGCATAGGCATCAGTTCACTACTGCTCTCATCTCGGGTGGGTGGCATATGCAGGGTAAGGTGGGGCTGAGAAGAAAGGAAGACCACCATTCTGAAGAAGACTTGAGAAGAAAGAAGAGGTGCACAGCATAAAGGAGCCTCAGTGTGGTACCCGTATGGGAGCTGGTGAAGCAAGCGTGGAGCCTCGGCATCCAGAACTGCTCTTGAGAATTCCGTCTCTTCCATTTCCCACCAGGTTTACCTCTGTCCAAGCCTGCTCCCTTTTCATGGTTTCTCTTGGCCCCACCTCCATGACTTTCTCTCCCCCTCGTGATACGTATAACTGCAGTTATGTCATATACATATCATGCCATTACATATAACTCCTCCCCACTGCAGTTCTGGTCAGATTATCCTTCCTTCCCAGGAGCCTGATTCGGGAGGATGGGGGGCCGGGCACTGAGTGTCGCCACCTGCAGCAGCTCCTGGTGAGGCGAGTTGGGGAGATCTGCAGGGAGGTCAACCAGGTAAGGGGCAGGACTCTCCAGACCCGGACACACAGAGCAGATGAGAACCAAATTTCTAAGAACTTGATTTTCAGAGGCTATTGGTCCATTTCAGAATCAATAATTATGGAAAGTTTTTGACTTCCCCAGTTAGTAGGATGCTGTTTCTCCCCCAGCTCCCTACAGCCTTGGGAGTGCTCCACAACCCACCCCCAGTAACAGTGGGTTACTCTCTCATACCATCCCAGTAACCATGAGATACTCCCTCTCATTGCACTGTGCTAGCATTAGTGATATACTAGTGACCCAGACAGAGGGACGCTGTAACTCTGTGGAGCTTGTGTAGAATGGGGGACAGTTGAACAACTGAATTACACAACTTACTTCAATTACAATTGTGAAGAATCCTAAAAGGAACAGTAGAAGCTGCTACGAAAGCATGTAACAGGGATCTGACCATCTGAAGTATCAGGGAAAGCTTCTTAGAGGAAGTGATTTTTAAGCTGAGACTCGACGGATGGTGAACAGATTCTGGCACCAAAGGGGCAAGTGTTCCTGACTGAGAATCACTCTCAGAGGCCTGAGCTTTGACCTCTCTGTGATGACTGATATTCTTGTTGACCTCCAATCCCCAGTGATAGTGGTCATTCTCTCTGGCATTTGATCACCCCTGACCACCACCACCCACTTAGGAGGAGGTATTTCAGTTCCCTGACCTCATGCTCCTTCTCCCAGCGACTGCTTCTTCAAGACCTTCATGACAGCCACGTGTGTAACTCTCTTCTGGTGGCCGAGAGTGAAGAAGATCTGTGGCGCAGTGAGACTCCCTTCCACTCCCGTCAGCGGGCACCACTGCCCAGTGATGGTGAGATCCCACCCAGGAGCCTCCCTCACAAGGCAGTGCTGCCGCCCTTTCTTTTACCGAATACTCTGGTGAAAGCTGAGGGCAGAGTCCTCATTACTTGGTCATCAGTGCCAAGTACTAGAGAGAGAGCAAGGAGGATAGGACAGGAAAGGATCACTGGCCTTGGCTGCTGCTGCGAGTTCATCAGTGATTTTCATGGAAGTAATTTCAGTAGAGAGATGGGAATAGAAAGCAGATGAAATGAAAAGTGAAAGAGGGTGATAGGTGGGGCAGAGAATAACTACTCTTACAAGTAGCTTGGCAGTGAAGAGACAGAGAAAATAGATACGGCAGTAACTAAAGGAAGATGGGGGCAAGGAAGGAGCTTTAAAATAAAGTAGAGACTTGAGCTTGTTTATATTCTATAGGGAAAGAGCCAGGGGAGGGGGAGAGGTTGAAGAATACAGAAGAGGAGAGATCACTGAAGGGGCACCAGGCCATGATCTGTCTTCCTAAGAGTCTGCTTCTGCCTGGCCCTGTCTTGTTAACCAGAATGACCGTCTTTCCCTGGCAGGGAAATAGTCAGGAATGAGGAGTTTGGGAGAGTGAGAACAAGCGGGCCAGTTCCCAAGTAAGAGAAATCCAGAGGGGAGGAGCCTGAAGGCCAGTAGAATTGCCTTCTGATTGGCTGTTCCTCCAGACAGGCAGCCACAGGACTGCTTTGGGATTTCTAGTCATGGTAAGGGAACATGATAATCCACTCAAGATGGTAACTGAAGTCTCGACACTTCTCCCTTCTCTTACTCCTGATGACCTCTCACCCAGACGGATAGAGGAAAAGCTGAACCATAACATTCCTTTGCAGTTCTCCTCTGGTTTAAAAGTAAAATCAGACCACTCCTTATTTTTAACATTCTCAGCAAGTCTGTAGACAAACGTTTCTGATATCTCCAGGAGAATGCATCTCTCAGCACATCCTGGGATCTCCTCCATATCGAAGCAGAGTCCCCATAGTTAGTGGATTCCCATGGTTTCAAAGGCATCTTCTGCAAATTGAAGATGAGCTAGGACAGGTGAACAATTTTACTTCAGAATGACTTCCGGCAGCCTAAGATGTAAGACCAGTCAGAACCCAGACACAGCCCTTCCTCATTTTAGTCTCTCCAGAATTTTTCCCTGAAACCCTTAGCAACCAGCATTCCATTCCAGAGCCTCTGCCTTTACACAGAAACTTCAGCCTCCTGGGTAGCCTGTGTGCTGTTCACACTTGACAGCAGCTTCTCTGAGAAAACTGCCACTTTGATTCACCAGAAGGCTCCCTGGAAACCTGAAAAGGGTCGAAGGAGGCATTGTACTGTGGCCATGGGCTCCTGTGTACTGCCACACTACCCTTTGGGTTTATTGGCGTTTCTGTCTTCCAAAGCCCAGGACAAAGTTTATCCCTCCTCTGCAGCTGGTGTGCATAAGCAGCCATACCCTTTTGGTTTTAATGAGATTACTGTTGCAACTCCCTGGAGGACATAGTGTTAGAGTGCTACTGACATATATTATGACAGGGTCAGAATCTCTTGGCATGATCTTGAGGATTTCCTCATGCTTTGCCTGCCTTGATACCTCTCATTAGCTCCTTCTCTAAGTCTCCTTGAGATAGTTCTGGAAGCCTTTGTGCTATATGACCTGTGTTCCTAAGGGCATGCATCTGCCTGGCCCTGTCGTGTTACCCAGAATGATCATCATTTCTCTGCAATAGTCAGGGATGAGTCTGGAGGAGTGAGGACAAGTAGGCCAGTTCCCAGGTGAGAAGTCTGTGGAGGGCAGAGGGTGGTGTGTCCCATTTCTAATCCCTGCTCCCCCTCACCCAGATTATGCTGCTGATGAGAGCTGTGCGCCCCGTGGGTACCTGGCAGCCACAATGCAGTTTGTCCCTGGCCATTTCTCCTGTGACGTTGTGTGGGGAACTGTGATCCGAGTC 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TGCACGGTAAGTAGAAGCCAGGGCCTGCACCCTCATGCTCCCATTAACCTCTTCTCTCTGCTCCCACAGTACCTCTCTCCAGTGTTGTTAGAAGTAAGACTTGGGACTGAGAGCTTGGGTAGAGATCCAACTTGTATTCTTAGGTTGGTGGTTCCCGATCACTTCCCACATCTTACAGCTAAGCACATCACATTCAACTGTCTTATAGATGAGAGTCGAAAAGCTGATGGGGATTTTGGCTTCTCGCTGAGCATTAACAACATCTAAGGATCAGAGCAGCTTTAGAAGTTCGTGTATAAAAATAAAGCATAATAAGGCTGGGCGTGGTAGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTTAGGAGTTCGATACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCATTAAAAATACAAAAATTAGTTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTAATTGGGAGGCTGAGGCAGAAGAATCTTGAACCTGGGAGGTGGAGATTGCAGTGAATGAGATTGTGCCACTGCACTCCAGCTGGGGCAACAGAGCAAGACACTGTCTCAAAAAATAATAAGGCATAATAGCTAATATTTATCAAGTGCATACTATGTGGTAGGCACTGTTCTGGTGCTTACATGAATCCACTCATTTATCTACATAACCCTACGGCGTATTAATGTCCTTATCATATGGGTGAAGAAACTGAAGCACAGGCCAGTTAAATACTTGCCCAAGGCCACAGTAAGTGACAGAGCCAGGATTCCTGCATAGGCATCAGTTCACTACTGCTCTCATCTCGGGTGGGTGGCATATGCAGGGTAAGGTGGGGCTGAGAAGAAAGGAAGACCACCATTCTGAAGAAGACTTGAGAAGAAAGAAGAGGTGCACAGCATAAAGGAGCCTCAGTGTGGTACCCGTATGGGAGCTGGTGAAGCAAGCGTGGAGCCTCGGCATCCAGAACTGCTCTTGAGAATTCCGTCTCTTCCATTTCCCACCAGGTTTACCTCTGTCCAAGCCTGCTCCCTTTTCATGGTTTCTCTTGGCCCCACCTCCATGACTTTCTCTCCCCCTCGTGATACGTATAACTGCAGTTATGTCATATACATATCATGCCATTACATATAACTCCTCCCCACTGCAGTTCTGGTCAGATTATCCTTCCTTCCCAGGAGCCTGATTCGGGAGGATGGGGGGCCGGGCACTGAGTGTCGCCACCTGCAGCAGCTCCTGGTGAGGCGAGTTGGGGAGATCTGCAGGGAGGTCAACCAGGTAAGGGGCAGGACTCTCCAGACCCGGACACACAGAGCAGATGAGAACCAAATTTCTAAGAACTTGATTTTCAGAGGCTATTGGTCCATTTCAGAATCAATAATTATGGAAAGTTTTTGACTTCCCCAGTTAGTAGGATGCTGTTTCTCCCCCAGCTCCCTACAGCCTTGGGAGTGCTCCACAACCCACCCCCAGTAACAGTGGGTTACTCTCTCATACCATCCCAGTAACCATGAGATACTCCCTCTCATTGCACTGTGCTAGCATTAGTGATATACTAGTGACCCAGACAGAGGGACGCTGTAACTCTGTGGAGCTTGTGTAGAATGGGGGACAGTTGAACAACTGAATTACACAACTTACTTCAATTACAATTGTGAAGAATCCTAAAAGGAACAGTAGAAGCTGCTACGAAAGCATGTAACAGGGATCTGACCATCTGAAGTATCAGGGAAAGCTTCTTAGAGGAAGTGATTTTTAAGCTGAGACTCGACGGATGGTGAACAGATTCTGGCACCAAAGGGGCAAGTGTTCCTGACTGAGAATCACTCTCAGAGGCCTGAGCTTTGACCTCTCTGTGATGACTGATATTCTTGTTGACCTCCAATCCCCAGTGATAGTGGTCATTCTCTCTGGCATTTGATCACCCCTGACCACCACCACCCACTTAGGAGGAGGTATTTCAGTTCCCTGACCTCATGCTCCTTCTCCCAGCGACTGCTTCTTCAAGACCTTCATGACAGCCACATGTGTAACTCTCTTCTGGTGGCCGAGAGTGAAGAAGATCTGTGGCGCAGTGAGACTCCCTTCCACTCCCGTCAGCGGGCACCACTGCCCAGTGATGGTGAGATCCCACCCAGGAGCCTCCCTCACAAGGCAGTGCTGCCGCCCTTTCTTTTACCGAATACTCTGGTGAAAGCTGAGGGCAGAGTCCTCATTACTTGGTCATCAGTGCCAAGTACTAGAGAGAGAGCAAGGAGGATAGGACAGGAAAGGATCACTGGCCTTGGCTGCTGCTGCGAGTTCATCAGTGATTTTCATGGAAGTAATTTCAGTAGAGAGATGGGAATAGAAAGCAGATGAAATGAAAAGTGAAAGAGGGTGATAGGTGGGGCAGAGAATAACTACTCTTACAAGTAGCTTGGCAGTGAAGAGACAGAGAAAATAGATACGGCAGTAACTAAAGGAAGATGGGGGCAAGGAAGGAGCTTTAAAATAAAGTAGAGACTTGAGCTTGTTTATATTCTATAGGGAAAGAGCCAGGGGAGGGGGAGAGGTTGAAGAATACAGAAGAGGAGAGATCACTGAAGGGGCACCAGGCCATGATCTGTCTTCCTAAGAGTCTGCTTCTGCCTGGCCCTGTCTTGTTAACCAGAATGACCGTCTTTCCCTGGCAGGGAAATAGTCAGGAATGAGGAGTTTGGGAGAGTGAGAACAAGCGGGCCAGTTCCCAAGTAAGAGAAATCCAGAGGGGAGGAGCCTGAAGGCCAGTAGAATTGCCTTCTGATTGGCTGTTCCTCCAGACAGGCAGCCACAGGACTGCTTTGGGATTTCTAGTCATGGTAAGGGAACATGATAATCCACTCAAGATGGTAACTGAAGTCTCGACACTTCTCCCTTCTCTTACTCCTGATGACCTCTCACCCAGACGGATAGAGGAAAAGCTGAACCATAACATTCCTTTGCAGTTCTCCTCTGGTTTAAAAGTAAAATCAGACCACTCCTTATTTTTAACATTCTCAGCAAGTCTGTAGACAAACGTTTCTGATATCTCCAGGAGAATGCATCTCTCAGCACATCCTGGGATCTCCTCCATATCGAAGCAGAGTCCCCATAGTTAGTGGATTCCCATGGTTTCAAAGGCATCTTCTGCAAATTGAAGATGAGCTAGGACAGGTGAACAATTTTACTTCAGAATGACTTCCGGCAGCCTAAGATGTAAGACCAGTCAGAACCCAGACACAGCCCTTCCTCATTTTAGTCTCTCCAGAATTTTTCCCTGAAACCCTTAGCAACCAGCATTCCATTCCAGAGCCTCTGCCTTTACACAGAAACTTCAGCCTCCTGGGTAGCCTGTGTGCTGTTCACACTTGACAGCAGCTTCTCTGAGAAAACTGCCACTTTGATTCACCAGAAGGCTCCCTGGAAACCTGAAAAGGGTCGAAGGAGGCATTGTACTGTGGCCATGGGCTCCTGTGTACTGCCACACTACCCTTTGGGTTTATTGGCGTTTCTGTCTTCCAAAGCCCAGGACAAAGTTTATCCCTCCTCTGCAGCTGGTGTGCATAAGCAGCCATACCCTTTTGGTTTTAATGAGATTACTGTTGCAACTCCCTGGAGGACATAGTGTTAGAGTGCTACTGACATATATTATGACAGGGTCAGAATCTCTTGGCATGATCTTGAGGATTTCCTCATGCTTTGCCTGCCTTGATACCTCTCATTAGCTCCTTCTCTAAGTCTCCTTGAGATAGTTCTGGAAGCCTTTGTGCTATATGACCTGTGTTCCTAAGGGCATGCATCTGCCTGGCCCTGTCGTGTTACCCAGAATGATCATCATTTCTCTGCAATAGTCAGGGATGAGTCTGGAGGAGTGAGGACAAGTAGGCCAGTTCCCAGGTGAGAAGTCTGTGGAGGGCAGAGGGTGGTGTGTCCCATTTCTAATCCCTGCTCCCCCTCACCCAGATTATGCTGCTGATGAGAGCTGTGCGCCCCGTGGGTACCTGGCAGCCACAATGCAGTTTGTCCCTGGCCATTTCTCCTGTGACGTTGTGTGGGGAACTGTGATCCGAGTC 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Task1_train_822 | Here is a variant affecting SZT2 (SZT2 subunit of KICSTOR complex) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Self-limited epilepsy with centrotemporal spikes | GGTAAGGTCTGAGGAGGGGGTAGGGGAGTCGCCACATGAGGTTCCAGAATCCTCTGGGACTTCTCTTAGAACCTTGCAAGCATTACACTAGAAGTTATGTAACAGTCTCAGCCCAAGACCTGACACATGTTAAGTGAGCCATAAATACTAGCTGGAGGCTCCAGACCCTCTGGGACTTCTCTTAGAACCTCCTATTACTCTGCCCTGGGTCCCTCCTCTAGTTCCTGCTGTGCTCGGGTCTTTCCTCAAGCAGGAGCTGCATGGGAAGGGACTGGCTTCTGCCATGTTCAGGGTTAGGACTGCAGTTGACTGAGGCACAGCTTGGGGAAGGGGAGCTGGGGTGGCTGGAGAACTGGTGGTGCCACCGACCTGATACCAGACTGGGTTCGGGGTGAAGAGGATGGTTATTTGGGATATATTTTGCCCCAGGTGTCCAGTAGGCAACTGGATTTTCCAGCTAATATTTATAGCTCAATTAACATGTGCTGGTCTTGGGCTGAGACTGTTAAATAACTTCTAGTGTAATTCTTGCAACAAACCTATGAGGGCGATGCTATTATAATTCTCATTTTATGGATGAAGGCACAGAGGTTTTGAGAGTAAAACTCAAGTGTCCATAGTGACATAACGAGTAGTTTGGCAGAATTGGAACCTAGTGCTGGCTACCTCCAGAGCCAGCACTCCTAACACTGCCTCTAGTATACAGGGGATTCTTTGAGTTTGGCATGATAGGGCTGCTATGGAGGTAGCTGGATCCTCTACCAGTGTCCCCACCTTCCCACCATGGCTGTGTCAAGGTCCTGAGATCACGGATGAGCTCGTGCGAGTTCTATGTCGGCGCCTGGATGAGGCCACGCTGGACGTCATCACAGTTATGCTTGTTCGGAACTGCAAGCTGACACCAGCTGATGTGGAGGTCAGCTCCCCTCTAGGCACCAGCATCCTTCCCAGACTCAGCCACAGGTTCCAGGACAGTCTAGGCTGGAACTTCTGCATTCAGCTCTGCCCTCTTCTTCCCACTCTGCAGTTCATCCAGCCCCCTGGAAGTCTCCCCTCAGAGGTGCTGCATCTGGCCCTACCCACCTCCTGCAGGCCCTGGCTTCCAGCCCTGGCATGGTACCTACGGCAGAACTTGCTCATCTTCCTGCACTCTCCCAAGTACACAGATAGCAACAGCCGGAACCACTTCCAAGTGAGATGGCACTCATCTCTCTCCACACTCATGTGCACCCCTGCCCCCTGCCCCACGCACTTACTCTTTCCTACCGATACCCCTATATGTACCTTTGCCCATGGACCTGGGTACACCCATGCCCCCCCGGGGACCATTATTACCCGCCTGTGTCTTCTCATGCTCCCATATCTACCTGCACCACATTCCCCACTGTGGGCACCCATCCCCGAGGGTTTTGTCCATTTGCTTGCTCTTAGTGCTCTGTGGCTGTTCTTTCCCCAGCATCCACTCCCACCACAGGGTGGCCTCCCTGACTTGGACATCTACTTGTATAACAAGCCTGGTGGACAGGGCACTGGGGGCAAAGGTACGGTGCAGGGCACGGGCCTGTGGCACCACCAGGTGAGGGAAAGCCTTTTGTCATCCTATTGCTAAGAGGACATTTCCCAGGCTTGCAGCTGAGTGGAGGGTCGTGGGAGGGGTGGTCTGCAAGTCCCAGAGCTGAGCCTTCCTATGGATTTCTACCCAGGGGTTGCCTGCATCACTCTAGCCTTTGTGGATGAAGGAGGGGCCCCCTTGTCACTGGCGTTGTGGCCCCCCTCCTCTCCGGGGCCCCCAGACCCACTGCGAGAGGAGGAATTTGAGCAACTGACCCAGGTCATCCGCTGCCCGGTTGTTGTGGACAGTTCTTCAGGTGGGACAGCTTGGTCAGAGGATGAGGTGTTCAGTTATTGCTGTGGGAGGTAAGGGTGGTGAGTAGAGTGGGATCTAGGGACACCCTCAAGTGTCCCTGTTCTCCTTCCAGCTCAGAATGGGGCCCCACGGCTTCGATTGGATGTGTGGGAAAAGGGGAACATTAGTATTGTGCAGCTGGAGGAGAAACTCCGAGGAGCAGCTCGCCAGGCCCTGGCCGATGCCATCATCGAGCTTCAGCTGCTGCCAGCTTCACTATGTACAGAGGACACACCCACAGGTATGCAAGTCAAGAGGTCCCTGGGGTCCAGAGAATGTCACAGATCCAAGCAGGACAGTGTGGCAGGTGAGCGTGCAAAGGTGGGGTTTAGGGGAAGCATGTCAGAGAACTACTACATCAGAACCACTTATTCACAGTTGTCCGTGAGCTTGTCTGGGCATCATCCAGGTGCTACACTGGCAGCAGTGAACGGATGCAGCTGCTCACCCACTTAGAGAGGGCTATTGCATCAGAGGCTCACTTCACACAAACACATGCAGCAGCACACTATCAGTTGTATATACTGTCATTCACTGACAGGTAGAATAGGTGGCAAGTCACTGTCATACCAGTCTTGAGGTTCAGTTTTCTAGAATGGGGATTGATGATCAGTGATGGGTGTCTGTAATGTCTGATGTCCACAGGAAGTCTCAGGAACGGATCGTTGGAAACTAAGAGCTCTGCAGGCCGAGCTAGCACCTTTCCCCCTGCCCCTGTCCCTGGGGAGCCTGTGACTCCACCCAGCAAAGCGGGCCGGCGTAGCTTCTGGGATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTCTTTTGGACTGGAGTTTGTAGAATGTGGCAGTTCTCACTGATGTAGAGGGAGCCTTAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAAT | GGTAAGGTCTGAGGAGGGGGTAGGGGAGTCGCCACATGAGGTTCCAGAATCCTCTGGGACTTCTCTTAGAACCTTGCAAGCATTACACTAGAAGTTATGTAACAGTCTCAGCCCAAGACCTGACACATGTTAAGTGAGCCATAAATACTAGCTGGAGGCTCCAGACCCTCTGGGACTTCTCTTAGAACCTCCTATTACTCTGCCCTGGGTCCCTCCTCTAGTTCCTGCTGTGCTCGGGTCTTTCCTCAAGCAGGAGCTGCATGGGAAGGGACTGGCTTCTGCCATGTTCAGGGTTAGGACTGCAGTTGACTGAGGCACAGCTTGGGGAAGGGGAGCTGGGGTGGCTGGAGAACTGGTGGTGCCACCGACCTGATACCAGACTGGGTTCGGGGTGAAGAGGATGGTTATTTGGGATATATTTTGCCCCAGGTGTCCAGTAGGCAACTGGATTTTCCAGCTAATATTTATAGCTCAATTAACATGTGCTGGTCTTGGGCTGAGACTGTTAAATAACTTCTAGTGTAATTCTTGCAACAAACCTATGAGGGCGATGCTATTATAATTCTCATTTTATGGATGAAGGCACAGAGGTTTTGAGAGTAAAACTCAAGTGTCCATAGTGACATAACGAGTAGTTTGGCAGAATTGGAACCTAGTGCTGGCTACCTCCAGAGCCAGCACTCCTAACACTGCCTCTAGTATACAGGGGATTCTTTGAGTTTGGCATGATAGGGCTGCTATGGAGGTAGCTGGATCCTCTACCAGTGTCCCCACCTTCCCACCATGGCTGTGTCAAGGTCCTGAGATCACGGATGAGCTCGTGCGAGTTCTATGTCGGCGCCTGGATGAGGCCACGCTGGACGTCATCACAGTTATGCTTGTTCGGAACTGCAAGCTGACACCAGCTGATGTGGAGGTCAGCTCCCCTCTAGGCACCAGCATCCTTCCCAGACTCAGCCACAGGTTCCAGGACAGTCTAGGCTGGAACTTCTGCATTCAGCTCTGCCCTCTTCTTCCCACTCTGCAGTTCATCCAGCCCCCTGGAAGTCTCCCCTCAGAGGTGCTGCATCTGGCCCTACCCACCTCCTGCAGGCCCTGGCTTCCAGCCCTGGCATGGTACCTACGGCAGAACTTGCTCATCTTCCTGCACTCTCCCAAGTACACAGATAGCAACAGCCGGAACCACTTCCAAGTGAGATGGCACTCATCTCTCTCCACACTCATGTGCACCCCTGCCCCCTGCCCCACGCACTTACTCTTTCCTACCGATACCCCTATATGTACCTTTGCCCATGGACCTGGGTACACCCATGCCCCCCCGGGGACCATTATTACCCGCCTGTGTCTTCTCATGCTCCCATATCTACCTGCACCACATTCCCCACTGTGGGCACCCATCCCCGAGGGTTTTGTCCATTTGCTTGCTCTTAGTGCTCTGTGGCTGTTCTTTCCCCAGCATCCACTCCCACCACAGGGTGGCCTCCCTGACTTGGACATCTACTTGTATAACAAGCCTGGTGGACAGGGCACTGGGGGCAAAGGTACGGTGCAGGGCACGGGCCTGTGGCACCACCAGGTGAGGGAAAGCCTTTTGTCATCCTATTGCTAAGAGGACATTTCCCAGGCTTGCAGCTGAGTGGAGGGTCGTGGGAGGGGTGGTCTGCAAGTCCCAGAGCTGAGCCTTCCTATGGATTTCTACCCAGGGGTTGCCTGCATCACTCTAGCCTTTGTGGATGAAGGAGGGGCCCCCTTGTCACTGGCGTTGTGGCCCCCCTCCTCTCCGGGGCCCCCAGACCCACTGCGAGAGGAGGAATTTGAGCAACTGACCCAGGTCATCCGCTGCCCGGTTGTTGTGGACAGTTCTTCAGGTGGGACAGCTTGGTCAGAGGATGAGGTGTTCAGTTATTGCTGTGGGAGGTAAGGGTGGTGAGTAGAGTGGGATCTAGGGACACCCTCAAGTGTCCCTGTTCTCCTTCCAGCTCAGAATGGGGCCCCACGGCTTCGATTGGATGTGTGGGAAAAGGGGAACATTAGTATTGTGCAGCTGGTGGAGAAACTCCGAGGAGCAGCTCGCCAGGCCCTGGCCGATGCCATCATCGAGCTTCAGCTGCTGCCAGCTTCACTATGTACAGAGGACACACCCACAGGTATGCAAGTCAAGAGGTCCCTGGGGTCCAGAGAATGTCACAGATCCAAGCAGGACAGTGTGGCAGGTGAGCGTGCAAAGGTGGGGTTTAGGGGAAGCATGTCAGAGAACTACTACATCAGAACCACTTATTCACAGTTGTCCGTGAGCTTGTCTGGGCATCATCCAGGTGCTACACTGGCAGCAGTGAACGGATGCAGCTGCTCACCCACTTAGAGAGGGCTATTGCATCAGAGGCTCACTTCACACAAACACATGCAGCAGCACACTATCAGTTGTATATACTGTCATTCACTGACAGGTAGAATAGGTGGCAAGTCACTGTCATACCAGTCTTGAGGTTCAGTTTTCTAGAATGGGGATTGATGATCAGTGATGGGTGTCTGTAATGTCTGATGTCCACAGGAAGTCTCAGGAACGGATCGTTGGAAACTAAGAGCTCTGCAGGCCGAGCTAGCACCTTTCCCCCTGCCCCTGTCCCTGGGGAGCCTGTGACTCCACCCAGCAAAGCGGGCCGGCGTAGCTTCTGGGATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTCTTTTGGACTGGAGTTTGTAGAATGTGGCAGTTCTCACTGATGTAGAGGGAGCCTTAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAAT |
Task1_train_823 | A variant on Chromosome 1 in gene SZT2 (SZT2 subunit of KICSTOR complex) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Developmental and epileptic encephalopathy, 18 | GATCAGTGATGGGTGTCTGTAATGTCTGATGTCCACAGGAAGTCTCAGGAACGGATCGTTGGAAACTAAGAGCTCTGCAGGCCGAGCTAGCACCTTTCCCCCTGCCCCTGTCCCTGGGGAGCCTGTGACTCCACCCAGCAAAGCGGGCCGGCGTAGCTTCTGGGATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTCTTTTGGACTGGAGTTTGTAGAATGTGGCAGTTCTCACTGATGTAGAGGGAGCCTTAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACTGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTCCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTGCAACAGCCATGCTCTTCGACCCAGCTGCCTGGCTGCATGGGCCCCCAGAGACCTCTGGACCCCCTGACGGGCAGGTAAGGCTGACTCCCAGACTTCTAGCAGACCTTTGCTTACCCCACAGTGACCCCCCTCCTCCATCCCCAGCAGGATGGTTGACAGTGGGGAGAGTCTTCCTTGATCTTTACTCTCATAGCGGCGCCATCGCCCTGAGTCAGGGTCTGGGAGCCGAGAGGCCCCCACAAGCTGTGAATCCTTGGATGTGTCGCCCCCGGGAGCCCGTGAGGAGCCTTGGCTGAAGGAGCTGAGCTTGGCTTTCCTGCAGCAATATGTGCAGTATCTGCAGAGCATAGGTTTTGTGCTGGTACCACTGCGGCCCCCCTCACCCGCCCGCAGGTGAGCCCGTCCCTGTTTTCCCTTCTGTCTTCTCCTCCTGCACTGCAAGTGAGGCCCCACAGGCCCTTCCTCTCTTTACAAGGTCCTATGTTGACAATTTGGGCTGGGCCTGTGCATGTTTATCCCACCAGGCTTGCACTCATGTGAGGGTCTCAGATACTTTCACACAGCCCTCATGCGTGTCCTGCAGACCTTGTATGCTTTATGGAACTCATGATGACACTCATACAAAACTGTGTCCATTTTCACAAAGCTCATGCCCACACACATCTTGTACACTTACACACTTGCATACATCCCCACATGTGAATTTTTTTGGAGATGGAATCTCACTGTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCAATTCTTGTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCCTGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTATCACCATGTTGCCTAGACTGGTCTTGAACTCCTCAACTCAGGTAGTCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCATCACGCCCGGCCTGCACATGTGAATCTTGTACATGCTCCTAAGCCTCTGGATCTAGGACTTAATGATTCCTGTCCTTATCATCCCACTGACCTCTCCTGAGATTTGATGTAGTTCTCGGCCCAGGG | GATCAGTGATGGGTGTCTGTAATGTCTGATGTCCACAGGAAGTCTCAGGAACGGATCGTTGGAAACTAAGAGCTCTGCAGGCCGAGCTAGCACCTTTCCCCCTGCCCCTGTCCCTGGGGAGCCTGTGACTCCACCCAGCAAAGCGGGCCGGCGTAGCTTCTGGGATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTCTTTTGGACTGGAGTTTGTAGAATGTGGCAGTTCTCACTGATGTAGAGGGAGCCTTAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACGGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTCCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTGCAACAGCCATGCTCTTCGACCCAGCTGCCTGGCTGCATGGGCCCCCAGAGACCTCTGGACCCCCTGACGGGCAGGTAAGGCTGACTCCCAGACTTCTAGCAGACCTTTGCTTACCCCACAGTGACCCCCCTCCTCCATCCCCAGCAGGATGGTTGACAGTGGGGAGAGTCTTCCTTGATCTTTACTCTCATAGCGGCGCCATCGCCCTGAGTCAGGGTCTGGGAGCCGAGAGGCCCCCACAAGCTGTGAATCCTTGGATGTGTCGCCCCCGGGAGCCCGTGAGGAGCCTTGGCTGAAGGAGCTGAGCTTGGCTTTCCTGCAGCAATATGTGCAGTATCTGCAGAGCATAGGTTTTGTGCTGGTACCACTGCGGCCCCCCTCACCCGCCCGCAGGTGAGCCCGTCCCTGTTTTCCCTTCTGTCTTCTCCTCCTGCACTGCAAGTGAGGCCCCACAGGCCCTTCCTCTCTTTACAAGGTCCTATGTTGACAATTTGGGCTGGGCCTGTGCATGTTTATCCCACCAGGCTTGCACTCATGTGAGGGTCTCAGATACTTTCACACAGCCCTCATGCGTGTCCTGCAGACCTTGTATGCTTTATGGAACTCATGATGACACTCATACAAAACTGTGTCCATTTTCACAAAGCTCATGCCCACACACATCTTGTACACTTACACACTTGCATACATCCCCACATGTGAATTTTTTTGGAGATGGAATCTCACTGTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCAATTCTTGTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCCTGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTATCACCATGTTGCCTAGACTGGTCTTGAACTCCTCAACTCAGGTAGTCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCATCACGCCCGGCCTGCACATGTGAATCTTGTACATGCTCCTAAGCCTCTGGATCTAGGACTTAATGATTCCTGTCCTTATCATCCCACTGACCTCTCCTGAGATTTGATGTAGTTCTCGGCCCAGGG 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Task1_train_824 | Chromosome 1 houses a mutation in gene SZT2 (SZT2 subunit of KICSTOR complex). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy, 18 | TAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACTGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTCCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTGCAACAGCCATGCTCTTCGACCCAGCTGCCTGGCTGCATGGGCCCCCAGAGACCTCTGGACCCCCTGACGGGCAGGTAAGGCTGACTCCCAGACTTCTAGCAGACCTTTGCTTACCCCACAGTGACCCCCCTCCTCCATCCCCAGCAGGATGGTTGACAGTGGGGAGAGTCTTCCTTGATCTTTACTCTCATAGCGGCGCCATCGCCCTGAGTCAGGGTCTGGGAGCCGAGAGGCCCCCACAAGCTGTGAATCCTTGGATGTGTCGCCCCCGGGAGCCCGTGAGGAGCCTTGGCTGAAGGAGCTGAGCTTGGCTTTCCTGCAGCAATATGTGCAGTATCTGCAGAGCATAGGTTTTGTGCTGGTACCACTGCGGCCCCCCTCACCCGCCCGCAGGTGAGCCCGTCCCTGTTTTCCCTTCTGTCTTCTCCTCCTGCACTGCAAGTGAGGCCCCACAGGCCCTTCCTCTCTTTACAAGGTCCTATGTTGACAATTTGGGCTGGGCCTGTGCATGTTTATCCCACCAGGCTTGCACTCATGTGAGGGTCTCAGATACTTTCACACAGCCCTCATGCGTGTCCTGCAGACCTTGTATGCTTTATGGAACTCATGATGACACTCATACAAAACTGTGTCCATTTTCACAAAGCTCATGCCCACACACATCTTGTACACTTACACACTTGCATACATCCCCACATGTGAATTTTTTTGGAGATGGAATCTCACTGTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCAATTCTTGTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCCTGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTATCACCATGTTGCCTAGACTGGTCTTGAACTCCTCAACTCAGGTAGTCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCATCACGCCCGGCCTGCACATGTGAATCTTGTACATGCTCCTAAGCCTCTGGATCTAGGACTTAATGATTCCTGTCCTTATCATCCCACTGACCTCTCCTGAGATTTGATGTAGTTCTCGGCCCAGGGAAGTCCTTTTCTCACCAAGGACCTCTGTGCTAGGCCTACTTGCATCACTGTCCTTGGCCTGTTCTTGGTCATGTTCACCCACTGGCCAGTACTGACAGGTCTGAGTCTTGGGAAGTAGGCAGCCCGTCTGTTGCCACCTCCATCTCCCCTGAGCTCAGGGACAACTCTGCAGCCACCTTTTCATCCACTGTCAAATCTCAGATTCCCGTGTTTGTGGCCCCTGCTCTATGTTCCTCTCCAGATTCTGTGTTCTCTGCCCTTTCCCAGTGGCTGTATGCGAAAAATGAGCTGTTCACCTTACACATAGCTACTTTCGTGTCTCCAGATTTGTGAGTTTATCAAGGCATGTTCTCCCTCCTCTCTGTTTTCAGTTAGAACCTTTTCAAGCCAGTAGTCCAGAAATGCCAGTTCCAACTCTCTCATGTTTCTGTGACCAGCTCCCCACTCCCCAGGTTTCCCTCTCTTCCAGGCATTAGGAAGAGAAGGCGTGCCTGCCCCTCCTGTGATCCCATCTCAGAGGCCAGGCTGGCCCCTCCT 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TAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACTGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTGCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTGCAACAGCCATGCTCTTCGACCCAGCTGCCTGGCTGCATGGGCCCCCAGAGACCTCTGGACCCCCTGACGGGCAGGTAAGGCTGACTCCCAGACTTCTAGCAGACCTTTGCTTACCCCACAGTGACCCCCCTCCTCCATCCCCAGCAGGATGGTTGACAGTGGGGAGAGTCTTCCTTGATCTTTACTCTCATAGCGGCGCCATCGCCCTGAGTCAGGGTCTGGGAGCCGAGAGGCCCCCACAAGCTGTGAATCCTTGGATGTGTCGCCCCCGGGAGCCCGTGAGGAGCCTTGGCTGAAGGAGCTGAGCTTGGCTTTCCTGCAGCAATATGTGCAGTATCTGCAGAGCATAGGTTTTGTGCTGGTACCACTGCGGCCCCCCTCACCCGCCCGCAGGTGAGCCCGTCCCTGTTTTCCCTTCTGTCTTCTCCTCCTGCACTGCAAGTGAGGCCCCACAGGCCCTTCCTCTCTTTACAAGGTCCTATGTTGACAATTTGGGCTGGGCCTGTGCATGTTTATCCCACCAGGCTTGCACTCATGTGAGGGTCTCAGATACTTTCACACAGCCCTCATGCGTGTCCTGCAGACCTTGTATGCTTTATGGAACTCATGATGACACTCATACAAAACTGTGTCCATTTTCACAAAGCTCATGCCCACACACATCTTGTACACTTACACACTTGCATACATCCCCACATGTGAATTTTTTTGGAGATGGAATCTCACTGTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCAATTCTTGTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCCTGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTATCACCATGTTGCCTAGACTGGTCTTGAACTCCTCAACTCAGGTAGTCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCATCACGCCCGGCCTGCACATGTGAATCTTGTACATGCTCCTAAGCCTCTGGATCTAGGACTTAATGATTCCTGTCCTTATCATCCCACTGACCTCTCCTGAGATTTGATGTAGTTCTCGGCCCAGGGAAGTCCTTTTCTCACCAAGGACCTCTGTGCTAGGCCTACTTGCATCACTGTCCTTGGCCTGTTCTTGGTCATGTTCACCCACTGGCCAGTACTGACAGGTCTGAGTCTTGGGAAGTAGGCAGCCCGTCTGTTGCCACCTCCATCTCCCCTGAGCTCAGGGACAACTCTGCAGCCACCTTTTCATCCACTGTCAAATCTCAGATTCCCGTGTTTGTGGCCCCTGCTCTATGTTCCTCTCCAGATTCTGTGTTCTCTGCCCTTTCCCAGTGGCTGTATGCGAAAAATGAGCTGTTCACCTTACACATAGCTACTTTCGTGTCTCCAGATTTGTGAGTTTATCAAGGCATGTTCTCCCTCCTCTCTGTTTTCAGTTAGAACCTTTTCAAGCCAGTAGTCCAGAAATGCCAGTTCCAACTCTCTCATGTTTCTGTGACCAGCTCCCCACTCCCCAGGTTTCCCTCTCTTCCAGGCATTAGGAAGAGAAGGCGTGCCTGCCCCTCCTGTGATCCCATCTCAGAGGCCAGGCTGGCCCCTCCT 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Task1_train_825 | Gene ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Intellectual disability, autosomal recessive 12 | TCACTTTATGTTTTCTTTTCTTTCTTCTCTTTCTTTCTTCTTCTTCTTTTTTTTTTGTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGCTCACAACTCACTGCAGCCTCAACCTCCTGGGCTTAAAGGATCCTCCTGCCTCAGCTTCCTGGGTAGCTAGGACCACAGATGCACACTACTAGGCCTGGCTAACTTTTTAATTTTTCTTTTTGTAGAGATAGGATCTCATCATGTTGCCTAGGCTGGCCTCAAACTCCAGGGCTCAAGCAGTTCTCCTGCCTCAGCCTACCAAAGTTCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCCCACCTAACATTTTCTAATTGGTTATTGCTGGTATGGTTTTTAAGAATGTGTTGATTTTTGTAAATTAATCTTATAATCATAATCACCTACTTTATTGAACTTCCTATTCTAATGATTTTTTAGTATATTCTCTTGGCTTTCCTAGGTGGACAATTATCTGTAAATTATAATGTTTTGTCACACCATTATTAATATTTATACATCATTTTTTTCTCTTATGTCATTGTAATTTTGTGGCTGAGATATCTGATTGGGTTTGGTTGAGGGCCTGACCCAGGGCAGTCTTCTTGGCCAATGTTACATTTTACATTTAAGGTGTACCTGCTATGCATCCTTTTACATCAAAGGATGCATAGCAGGTACAGTAGCAGGGTGGGTGAATTCCAGACAGACCTTGAGGATAGAAACAAGGCAGCATTCAATGAATAGAAAGTACAATGACTAGAGCATAGGGCACAAATGAGGTTGAGAGAAGCAAGAGATGGATTGGAGAGTAAATCGAGGCTCAGTCAGAAACCGCTAGGCTGTAAGGAGCAATTACTTTATTCAGAGGAGTTGAGAATTGAATGAAAGCTATGTTAGGCAGAATGGCTCTTTAAAGATATCCACACCGTAATCCCTGGAACCTATGAATTTGTTACTCGACATGGCACAAGGGACTTCACAGATATAATTAAGGTTTTGGGTCTTCAAATAGGGAGATTATCCTGGATTATTAAGGTGGGCCCAATATAATCACATGGGCCCCAAAAAGCAAAGAAGTTTCTCCAGCTGGAAGAGAAGCAAGATATGGCGGAGGGGGAATTTGGAGAGATTCAAAGAGTGAGAGAGCCTGAAGGGGACCACATGGAAAGCATGAAAAGGACTGTAGGCCTGAAGGCTGGCCCCTGGCAGATAACCAGCCGGGAAACGGGGGCCTTGTCCCTACAGCTGCACGAACTGAATTCAGCCAACGGCCTGAGTGAGCATGGAAGTGGATTCTTCTCCAGGGCCTCCAGAAGGGAACACAGCCCTACCAGCACCTTGGTTTTGGCCTTGTGCGACTCTAAGCAAGGATCCAGCTGAGCCTCACCATATCCAGATTTTGGCCTTCAGAACTCTGAGATAATTTTGTGTTGTTTTAAACTGCTAAGTTTGTGACACTTTGCCACAGCAGCAGTAGAGAACGAATGCAAAGGGGTTTAAGCAGGGATATTGTCAGATTTTGTGTTATTAAAAGACTTCTTGTGCCATGTGGAAATGGATTTGGAGAATGTAAATTTGAAGGCAGGGAAACGTGTTTGTGGGAATGCTGTGATAACACAATCTAGGGTAGTGATCATGGGAAGGGGCTATGATTTGAAAAATATCTGGGAGGCTGGAATTGCCAGAACTAGTCAGGGACTGGATGTCGGCGGCTGGGGTGGGGAAGCAAAGATGATTGCTGCTTTCTAGCTTAGGCGCTGGCTGATGATGAAGCTGTTTTTTGAGATGGGGATGAGCAGGTTAGAAGATGCCATGATATGAAAGTGATAACTCTAAGTTATTCTTCATTTGGAAATTCTCTCTATAGATACTTTAAGAGAGAATATATCAATAAGATGAGTGCTTTGTCTTTTAAGAACTAAACTTTTTCTTTTCTAGGTCATTTAGGAAATCGTAAATCATGTGAAGATGGGACTCTTGGTATTTGTGCGCAATCTGCTGCTAGCCCTCTGCCTCTTTCTGGTACTGGGATTTTTGTATTATTCTGCGTGGAAGCTACACTTACTCCAGTGGGAGGAGGACTCCAGTAAGTATAGTCACTCTAGCTCACCCCAGGAGAAGCCTGTTGCAGGTCAGTTACTGGTTTTTCGTGTGGCTGCGTCTCATATTCTTCAGAGATGGGCAATGAGAGTAAACTGAACATTTCTGGGACTTTGGCCTAGAAATTGCCTGCCATTTTAGCTGGTATAGGCTGAGAACTTTGATGTTTTTTAAAAACTGCATGCCATGACAAATCTCAGTTCCTTTTACAAACTTGGTGAGAATGTGCTATTCTTCAATAAAAACCCAAACTATACTCATACTTCTAGTTCTTGAACGCTTTTGTTCTTTCTAATTGCTGTAGCATATTGCCACTCTATTTTGCCATTTATTGCCTTAGGGATTAGTATTGAAGTTGGTTTCCATCTGCCCTTAAAACATTCATCTTTATGTTGAATTTTCAACATAATATTGTCTCTGTTTTGTTTTCCCTAAAGAAACGTTGTCTACTGAATCTTTGTAGCCGTTGCTGCTATTGAACTTGCACCTGGCTACAATAATGGCTTATTTTCCCTACCCAGTAACTCCTAATTTTTTTCTTCTCTTTGTGCACTTTGTCTCATGTGTTACATAGTGTTTTCCACATAGCCTGAATCCCACTGGTTTGGTTTCTGTTTACCTGATGTGGCCTGTGTTTTGGTTCTAGGCTTGCAGTTGAAGGGCTTACATTGATCAGCACCAGCCTTTGCACATTGTTTTCTTGGCTGTAGCTTGAAATATCACACAGTGACCATAGTGGTTTTCTTTTTGGTTATTTTGTCTGACTGTTATCTGAGCTTGGTGTGGGAAATAGTATAAAATCAGAACAGAGTGGCCTGTTTTGACCTGCAGTGATATGTCTTCTCTTAAAATAGTTTTATTTTTACTAACATCTACCAGATACCAGTATAGAACTCACTTGAGAAGAGAGTCAGTCTCTAGGTACAAGGTGAAAGTGAGCTGCAGTGAGTGGGAAGAAGCAACGGGCAATTGGCCTGCTGTTGTTCTAAGACCCTAACATGGGAAGTATTACAGTGAAGTAGCTCATTTATTTCTCCCATGGCTCAAACTACTGAGGCAGTTTCAAGCCAGTTTTTAAAATATAGTGTTATATCCTTAATTTACTGTTTTATATAGAATATTTAAGTGCCTTTTAAATGCTTAGCTTATAATTATCACTAATTACTTGTGTTTCAAAAGTTTACTTAAATTTCTCTGCACTGACTTATTTTTAAAACCAAGGAGACTACCCAGGATAAGGAGTGTTTGTATCAGTGAAATGCAGAATTCTGTATTTAGAGGCATTCATTGTCTGTATTGGTAGTGGTGGATCCATCTCTATCAATAATTTAGATGGAAATGTGTGTGAAGAACAAGGGTCTCCTTTTCCGCTAAGGGCTGCTGACCTGTAGAAGATATAACCAAGGATCAGATAAGATTTTCCTAGATCAGTAGGGAAGGGAATTAACTTTATGGAAGACTCATTGTGTTTCAGGCATTAGGCTAGACAATTTACAAATATAATTTCATTTAATGTAATTCTTACTGCAGTTTTGTGAAGATGCCATTATTATCCCCATTTTCCAGTTGAGCAAACTGAAACACTTTAATTTACCAAGGTTATATTGTTGGAACTGGAATTCAATTCCTGTCTTTAAAACCTATGTTCATTATTTTATTGAAAAATATAATAAATACTGAAGGCAGAACTTAATTTAATATTCTACCTGGTAAAAAGAGAGAGAGAAAGGGGCTCAGAGAAGTAATAGTAGAGAGTGTCAGGAAGGGGGTGTGAAAAGAAAAGGAGGGAAAGAGAGAAAGTTATCAAAAGAAGACAGAGAGGCTTATTAGGTTTGAAGGTGACAAGCTGCTATTCACTTGGGCCGTAGGCTTCAGAAGTTTATTGCTAGTTATCTGCTGTCCTTTCCATTAATTGTTAGCTGACTAACCAGTATTTATAGCTTTTCTATTCTG 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TCACTTTATGTTTTCTTTTCTTTCTTCTCTTTCTTTCTTCTTCTTCTTTTTTTTTTGTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGCTCACAACTCACTGCAGCCTCAACCTCCTGGGCTTAAAGGATCCTCCTGCCTCAGCTTCCTGGGTAGCTAGGACCACAGATGCACACTACTAGGCCTGGCTAACTTTTTAATTTTTCTTTTTGTAGAGATAGGATCTCATCATGTTGCCTAGGCTGGCCTCAAACTCCAGGGCTCAAGCAGTTCTCCTGCCTCAGCCTACCAAAGTTCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCCCACCTAACATTTTCTAATTGGTTATTGCTGGTATGGTTTTTAAGAATGTGTTGATTTTTGTAAATTAATCTTATAATCATAATCACCTACTTTATTGAACTTCCTATTCTAATGATTTTTTAGTATATTCTCTTGGCTTTCCTAGGTGGACAATTATCTGTAAATTATAATGTTTTGTCACACCATTATTAATATTTATACATCATTTTTTTCTCTTATGTCATTGTAATTTTGTGGCTGAGATATCTGATTGGGTTTGGTTGAGGGCCTGACCCAGGGCAGTCTTCTTGGCCAATGTTACATTTTACATTTAAGGTGTACCTGCTATGCATCCTTTTACATCAAAGGATGCATAGCAGGTACAGTAGCAGGGTGGGTGAATTCCAGACAGACCTTGAGGATAGAAACAAGGCAGCATTCAATGAATAGAAAGTACAATGACTAGAGCATAGGGCACAAATGAGGTTGAGAGAAGCAAGAGATGGATTGGAGAGTAAATCGAGGCTCAGTCAGAAACCGCTAGGCTGTAAGGAGCAATTACTTTATTCAGAGGAGTTGAGAATTGAATGAAAGCTATGTTAGGCAGAATGGCTCTTTAAAGATATCCACACCGTAATCCCTGGAACCTATGAATTTGTTACTCGACATGGCACAAGGGACTTCACAGATATAATTAAGGTTTTGGGTCTTCAAATAGGGAGATTATCCTGGATTATTAAGGTGGGCCCAATATAATCACATGGGCCCCAAAAAGCAAAGAAGTTTCTCCAGCTGGAAGAGAAGCAAGATATGGCGGAGGGGGAATTTGGAGAGATTCAAAGAGTGAGAGAGCCTGAAGGGGACCACATGGAAAGCATGAAAAGGACTGTAGGCCTGAAGGCTGGCCCCTGGCAGATAACCAGCCGGGAAACGGGGGCCTTGTCCCTACAGCTGCACGAACTGAATTCAGCCAACGGCCTGAGTGAGCATGGAAGTGGATTCTTCTCCAGGGCCTCCAGAAGGGAACACAGCCCTACCAGCACCTTGGTTTTGGCCTTGTGCGACTCTAAGCAAGGATCCAGCTGAGCCTCACCATATCCAGATTTTGGCCTTCAGAACTCTGAGATAATTTTGTGTTGTTTTAAACTGCTAAGTTTGTGACACTTTGCCACAGCAGCAGTAGAGAACGAATGCAAAGGGGTTTAAGCAGGGATATTGTCAGATTTTGTGTTATTAAAAGACTTCTTGTGCCATGTGGAAATGGATTTGGAGAATGTAAATTTGAAGGCAGGGAAACGTGTTTGTGGGAATGCTGTGATAACACAATCTAGGGTAGTGATCATGGGAAGGGGCTATGATTTGAAAAATATCTGGGAGGCTGGAATTGCCAGAACTAGTCAGGGACTGGATGTCGGCGGCTGGGGTGGGGAAGCAAAGATGATTGCTGCTTTCTAGCTTAGGCGCTGGCTGATGATGAAGCTGTTTTTTGAGATGGGGATGAGCAGGTTAGAAGATGCCATGATATGAAAGTGATAACTCTAAGTTATTCTTCATTTGGAAATTCTCTCTATAGATACTTTAAGAGAGAATATATCAATAAGATGAGTGCTTTGTCTTTTAAGAACTAAACTTTTTCTTTTCTAGGTCATTTAGGAAATCGTAAATCATGTGAAGATGGGACTCTTGGTATTTGTGCGCAATCTGCTGCTAGACCTCTGCCTCTTTCTGGTACTGGGATTTTTGTATTATTCTGCGTGGAAGCTACACTTACTCCAGTGGGAGGAGGACTCCAGTAAGTATAGTCACTCTAGCTCACCCCAGGAGAAGCCTGTTGCAGGTCAGTTACTGGTTTTTCGTGTGGCTGCGTCTCATATTCTTCAGAGATGGGCAATGAGAGTAAACTGAACATTTCTGGGACTTTGGCCTAGAAATTGCCTGCCATTTTAGCTGGTATAGGCTGAGAACTTTGATGTTTTTTAAAAACTGCATGCCATGACAAATCTCAGTTCCTTTTACAAACTTGGTGAGAATGTGCTATTCTTCAATAAAAACCCAAACTATACTCATACTTCTAGTTCTTGAACGCTTTTGTTCTTTCTAATTGCTGTAGCATATTGCCACTCTATTTTGCCATTTATTGCCTTAGGGATTAGTATTGAAGTTGGTTTCCATCTGCCCTTAAAACATTCATCTTTATGTTGAATTTTCAACATAATATTGTCTCTGTTTTGTTTTCCCTAAAGAAACGTTGTCTACTGAATCTTTGTAGCCGTTGCTGCTATTGAACTTGCACCTGGCTACAATAATGGCTTATTTTCCCTACCCAGTAACTCCTAATTTTTTTCTTCTCTTTGTGCACTTTGTCTCATGTGTTACATAGTGTTTTCCACATAGCCTGAATCCCACTGGTTTGGTTTCTGTTTACCTGATGTGGCCTGTGTTTTGGTTCTAGGCTTGCAGTTGAAGGGCTTACATTGATCAGCACCAGCCTTTGCACATTGTTTTCTTGGCTGTAGCTTGAAATATCACACAGTGACCATAGTGGTTTTCTTTTTGGTTATTTTGTCTGACTGTTATCTGAGCTTGGTGTGGGAAATAGTATAAAATCAGAACAGAGTGGCCTGTTTTGACCTGCAGTGATATGTCTTCTCTTAAAATAGTTTTATTTTTACTAACATCTACCAGATACCAGTATAGAACTCACTTGAGAAGAGAGTCAGTCTCTAGGTACAAGGTGAAAGTGAGCTGCAGTGAGTGGGAAGAAGCAACGGGCAATTGGCCTGCTGTTGTTCTAAGACCCTAACATGGGAAGTATTACAGTGAAGTAGCTCATTTATTTCTCCCATGGCTCAAACTACTGAGGCAGTTTCAAGCCAGTTTTTAAAATATAGTGTTATATCCTTAATTTACTGTTTTATATAGAATATTTAAGTGCCTTTTAAATGCTTAGCTTATAATTATCACTAATTACTTGTGTTTCAAAAGTTTACTTAAATTTCTCTGCACTGACTTATTTTTAAAACCAAGGAGACTACCCAGGATAAGGAGTGTTTGTATCAGTGAAATGCAGAATTCTGTATTTAGAGGCATTCATTGTCTGTATTGGTAGTGGTGGATCCATCTCTATCAATAATTTAGATGGAAATGTGTGTGAAGAACAAGGGTCTCCTTTTCCGCTAAGGGCTGCTGACCTGTAGAAGATATAACCAAGGATCAGATAAGATTTTCCTAGATCAGTAGGGAAGGGAATTAACTTTATGGAAGACTCATTGTGTTTCAGGCATTAGGCTAGACAATTTACAAATATAATTTCATTTAATGTAATTCTTACTGCAGTTTTGTGAAGATGCCATTATTATCCCCATTTTCCAGTTGAGCAAACTGAAACACTTTAATTTACCAAGGTTATATTGTTGGAACTGGAATTCAATTCCTGTCTTTAAAACCTATGTTCATTATTTTATTGAAAAATATAATAAATACTGAAGGCAGAACTTAATTTAATATTCTACCTGGTAAAAAGAGAGAGAGAAAGGGGCTCAGAGAAGTAATAGTAGAGAGTGTCAGGAAGGGGGTGTGAAAAGAAAAGGAGGGAAAGAGAGAAAGTTATCAAAAGAAGACAGAGAGGCTTATTAGGTTTGAAGGTGACAAGCTGCTATTCACTTGGGCCGTAGGCTTCAGAAGTTTATTGCTAGTTATCTGCTGTCCTTTCCATTAATTGTTAGCTGACTAACCAGTATTTATAGCTTTTCTATTCTG 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Task1_train_826 | The gene ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Developmental and epileptic encephalopathy, 15 | TGGAGCCTTCCCATCCAGGAATATGATTTTGTCTTTCCTATTTTTTAAGTCATCTCTTTATATCAGTAAAAGGTTATAGTTTTCCTCCTATAGTTCTCACATATTTCTTATGTTTATTGCTCAATACTTGACTTTTTTGTTACGATTGCAAATAAGATCTTTTTGTTATATCTGATGACTGTTTCCTATTGCTGCAGTAAATTATTTTATCCATTCTAAGTTTAGTTGATTCTTTTAGGTTTTCTTTCTTTTCTTTCCTTTCTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCAACTGACACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGATTCTTTTAGGTTTTCTATGCAAATAACAGTTCGGTTGGAGCCCGTGGTTTGGCAGTGCCGCCAGTCTGCAGGGTTGGTTTGTGACCTCCAGCAGTGCTCAGGAGCCCAGCTGTAAAGGTAGAAAAAGAGGATGTATGGGTTGATCCCAAGTTCGGGATTTCCCTAGACTAGGGCAATAGAAGGACAAGGGGCAGAGTACTGGAGGAGCTCACAAGAGAGTAGCTGATGTAATATACTTCAGGGTCTAGACAAGGAGGGGTGGACGCACTGAACAGTAAGGGCTGGGGAGCTAAAGGCCTCTGTGTTGTGGAGAGGGAGGAAGAGAGAGACTTGAAAGGAGGGGAAGCTGTGCCCCAGAATGGACACTGGGATGTCGGATTTCAGAGGTGATGCCTTTCTAGTACAGTGCAGAGACCCTCCGGTAAGAATGATCCCGTTTTATGGTTAAAGAAACAGGCTTGGAGAGCTTGTTGCCCAGTCACCCAACTCTAGTCAACAGCAGTGTTGGTCTGCTATACTCTACTTGCTCACGCTCTGTCTCCATTTTTCAGGTCCACTCTAGAACAGTCGATGGAGAGAGCCAGGAGAGAGCAGCAAGGGAAGTGGGAGCACAGGAGGGCAGACAGGAGAGAGGGCAGGCACCTCCCAGCCCCTCAGCTGCTGCAGATAGGGAGGCAGGGCAGCTGCACTGCTGGGTCTTCTTATTGGCCCAGGAGCCCCCTCAGGCCACAGCAGCACACCCACAGCATCCCACATCCTGTGCCTGCCCGACGACTCCCTTCGTATCCTCCTCTGTTACACACTGGAGCCCCACCACACGCTCTCTTCACCATCATTCCCCTTGTCCCTGTCACACACTCCATTTCCCCAAACACAGATGGGCTTCCTACACCACAGGCCCTGGGTTCCCCATTAAACGCCTCATGCTCCCGCCTCACTGTCCCTACTTGGGGTCCCTGCCACTCCCCTAGGCTCATCCCTTGCTGTGTGCCTCGTTGAGGCCCGCTTTTGCTGTGTCCACAGAGTGCATCGGATGGCTTCTGGAAATCTGTGGCCACTCGAGTGCCCAAGGAGCCCCCTGAGATTCGAATCCTCAACCCATATTTCATCCAGGAGGCCGCCTTCACCCTCATTGGCCTGCCCTTCAACAATGGCCTCATGGGCCGGGGGGTGAGATATCTGGGCCCTGGGAGAGGGAGGAGGAAAGCTGGGTCAGAAGTGCCTTGGAAGGAAGGGTGGGTGGTGGGTGGGGCAGTGCTTCTGCAAAATAGCTTTCTGGGGAAGAGGGCTCAGTCCTTGGGCATGGAGGCTAGCTCTAGGGAGCTTGGCTGAAGTCTCAGCTGTCCCAGCCCTCCAGCTGAACTCTGCATGCCTTCTCTCACCCCTGCCCCCGTCTTCTAGAACATCCCTACCCTTGGCAGTGTGGCAGTGACCATGGCACTACACGGCTGTGACGAGGTGGCAGTCGCAGGATTTGGCTATGACATGAGCACACCCAACGCACCCCTGCACTACTATGAGACCGTTCGCATGGCAGCCATCAAAGAGGTTCGGGGCTGGGTATGGGGGCAATCCCTGGGTGGGGATGAGGGGGAGGTGCATAAATGAGTAGTAAAGGGAGGAGCCAGTGGCTGGTCTGGCTGCCCAGAACTCCCCAGAAGGTCCTGACACCAAGCATCCTACGTGCCCTCTCCACAGCCTCCCACTGAACCCAGGGCCTTCTCCCTGAACTTTCCTTCCAAGGGACTCTCCGTGCCCTGGTCCTGCACCTCCCTCCCCCTCGCTGCATTCCCCAGTCAGGAACACTAGTCTAGCACCAGCTCAGCCATCCTCTCTACTGCAGTTCCTGCCTTCCCCCAGAGGACGCTATTTTCCCTCAAAAAACCCACAACTGAACACTGCCTCTGGGTCTCAGGACTTCTCCATATCTCTTCCACCCTTCCCCACAGCCAAGCACTGCAGCTCTTCATACCCCGAATTGCTTCCCAAACATCCGTATGTAGGGTACATTACAGGTCTCCAGCCTGTCAGCCAGCCTTTTCTGGCATTTCTCCCTCCCTAGCCAAGACCCCATGTGGAAAATCTGAACCCTTCTGAACTCCGCTTGCCACACTTCTGCTTTGACCACCAGCCTTCCACTGATCCCAGCCTGAAACCTGGAAATCTTGGGCCAGTTCTTCAACAGCTTCTCTGCTGCTACATCTGGGTGATGGGAGGTTGTTGGAGGGAACCTCCCATCTGTGCAGATTCCTGTTTCTGTAAGTCTGGGGGCTCTGGTCTCAGCCCTCATTCCTGCTTATCAGTCTTCTTATCTATCCTTCTCCATCATCCCCCTCCACTATTCCAGAGCCTTCCATGCCCCAAAAGCTCCTCCCTCTTCCAGTGAAGAAACTGAAGCCACAGAGGGGACTCTGATCTGTCGGGCTCTGCACTGTACTCCCACTTGGCCCTTCACCCCTTGCAGCCTGGCTCCCCTCACACCTGACCCAGCTCCCATCAAGGTCACCACCTCAAGGTGGCCAATTCCAGTGGACACAACGTCATCTTTCCTGATCTCTCAGAAACACTTTTCGTGTTGGCCACTCCTTCTTCTTTGAACTTCTGAGTCAGTAATTTCCAACATTCCTCTTATTTCACTCACCATTCTCTCACATTCTCTTTCTCAGCATCATCAATTCTGATCTACGCCTTAAAATTCATCATAGCTGGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGGGTATTGCTTGAGCCCAGGAGTTTGAGAGCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATAGGAAAAATTGGCTGGGCGCGGTGGCTCACGCAGGTAATCCCAGCACTTTAGGAGGCCAAGGTGGGCGGATCCCCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGGGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTGATCCCATCAACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAAAATGAGACTCCGTCTCAAAAAAGAAAAATAGGAGGCAGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATAGGTGAAGCCCTGTCTGTACTAAAAATACAAAAATTAGCCGGACATGGTGGTGGACAACTGTAGTCCCAGCTACTCGGGAGACTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGTCTCAAAAAAGAAAAAAAAAAAAAAAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGAAGA 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TGGAGCCTTCCCATCCAGGAATATGATTTTGTCTTTCCTATTTTTTAAGTCATCTCTTTATATCAGTAAAAGGTTATAGTTTTCCTCCTATAGTTCTCACATATTTCTTATGTTTATTGCTCAATACTTGACTTTTTTGTTACGATTGCAAATAAGATCTTTTTGTTATATCTGATGACTGTTTCCTATTGCTGCAGTAAATTATTTTATCCATTCTAAGTTTAGTTGATTCTTTTAGGTTTTCTTTCTTTTCTTTCCTTTCTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCAACTGACACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGATTCTTTTAGGTTTTCTATGCAAATAACAGTTCGGTTGGAGCCCGTGGTTTGGCAGTGCCGCCAGTCTGCAGGGTTGGTTTGTGACCTCCAGCAGTGCTCAGGAGCCCAGCTGTAAAGGTAGAAAAAGAGGATGTATGGGTTGATCCCAAGTTCGGGATTTCCCTAGACTAGGGCAATAGAAGGACAAGGGGCAGAGTACTGGAGGAGCTCACAAGAGAGTAGCTGATGTAATATACTTCAGGGTCTAGACAAGGAGGGGTGGACGCACTGAACAGTAAGGGCTGGGGAGCTAAAGGCCTCTGTGTTGTGGAGAGGGAGGAAGAGAGAGACTTGAAAGGAGGGGAAGCTGTGCCCCAGAATGGACACTGGGATGTCGGATTTCAGAGGTGATGCCTTTCTAGTACAGTGCAGAGACCCTCCGGTAAGAATGATCCCGTTTTATGGTTAAAGAAACAGGCTTGGAGAGCTTGTTGCCCAGTCACCCAACTCTAGTCAACAGCAGTGTTGGTCTGCTATACTCTACTTGCTCACGCTCTGTCTCCATTTTTCAGGTCCACTCTAGAACAGTCGATGGAGAGAGCCAGGAGAGAGCAGCAAGGGAAGTGGGAGCACAGGAGGGCAGACAGGAGAGAGGGCAGGCACCTCCCAGCCCCTCAGCTGCTGCAGATAGGGAGGCAGGGCAGCTGCACTGCTGGGTCTTCTTATTGGCCCAGGAGCCCCCTCAGGCCACAGCAGCACACCCACAGCATCCCACATCCTGTGCCTGCCCGACGACTCCCTTCGTATCCTCCTCTGTTACACACTGGAGCCCCACCACACGCTCTCTTCACCATCATTCCCCTTGTCCCTGTCACACACTCCATTTCCCCAAACACAGATGGGCTTCCTACACCACAGGCCCTGGGTTCCCCATTAAACGCCTCATGCTCCCGCCTCACTGTCCCTACTTGGGGTCCCTGCCACTCCCCTAGGCTCATCCCTTGCTGTGTGCCTCGTTGAGGCCCGCTTTTGCTGTGTCCACAGAGTGCATCGGATGGCTTCTGGAAATCTGTGGCCACTCGAGTGCCCAAGGAGCCCCCTGAGATTCGAATCCTCAACCCATATTTCATCCAGGAGGCCGCCTTCACCCTCATTGGCCTGCCCTTCAACAATGGCCTCATGGGCCGGGGGGTGAGATATCTGGGCCCTGGGAGAGGGAGGAGGAAAGCTGGGTCAGAAGTGCCTTGGAAGGAAGGGTGGGTGGTGGGTGGGGCAGTGCTTCTGCAAAATAGCTTTCTGGGGAAGAGGGCTCAGTCCTTGGGCATGGAGGCTAGCTCTAGGGAGCTTGGCTGAAGTCTCAGCTGTCCCAGCCCTCCAGCTGAACTCTGCATGCCTTCTCTCACCCCTGCCCCCGTCTTCTAGAACATCCCTACCCTTGGCAGTGTGGCAGTGACCATGGCACTACACGGCTGTGACGAGGTGGCAGTCCCAGGATTTGGCTATGACATGAGCACACCCAACGCACCCCTGCACTACTATGAGACCGTTCGCATGGCAGCCATCAAAGAGGTTCGGGGCTGGGTATGGGGGCAATCCCTGGGTGGGGATGAGGGGGAGGTGCATAAATGAGTAGTAAAGGGAGGAGCCAGTGGCTGGTCTGGCTGCCCAGAACTCCCCAGAAGGTCCTGACACCAAGCATCCTACGTGCCCTCTCCACAGCCTCCCACTGAACCCAGGGCCTTCTCCCTGAACTTTCCTTCCAAGGGACTCTCCGTGCCCTGGTCCTGCACCTCCCTCCCCCTCGCTGCATTCCCCAGTCAGGAACACTAGTCTAGCACCAGCTCAGCCATCCTCTCTACTGCAGTTCCTGCCTTCCCCCAGAGGACGCTATTTTCCCTCAAAAAACCCACAACTGAACACTGCCTCTGGGTCTCAGGACTTCTCCATATCTCTTCCACCCTTCCCCACAGCCAAGCACTGCAGCTCTTCATACCCCGAATTGCTTCCCAAACATCCGTATGTAGGGTACATTACAGGTCTCCAGCCTGTCAGCCAGCCTTTTCTGGCATTTCTCCCTCCCTAGCCAAGACCCCATGTGGAAAATCTGAACCCTTCTGAACTCCGCTTGCCACACTTCTGCTTTGACCACCAGCCTTCCACTGATCCCAGCCTGAAACCTGGAAATCTTGGGCCAGTTCTTCAACAGCTTCTCTGCTGCTACATCTGGGTGATGGGAGGTTGTTGGAGGGAACCTCCCATCTGTGCAGATTCCTGTTTCTGTAAGTCTGGGGGCTCTGGTCTCAGCCCTCATTCCTGCTTATCAGTCTTCTTATCTATCCTTCTCCATCATCCCCCTCCACTATTCCAGAGCCTTCCATGCCCCAAAAGCTCCTCCCTCTTCCAGTGAAGAAACTGAAGCCACAGAGGGGACTCTGATCTGTCGGGCTCTGCACTGTACTCCCACTTGGCCCTTCACCCCTTGCAGCCTGGCTCCCCTCACACCTGACCCAGCTCCCATCAAGGTCACCACCTCAAGGTGGCCAATTCCAGTGGACACAACGTCATCTTTCCTGATCTCTCAGAAACACTTTTCGTGTTGGCCACTCCTTCTTCTTTGAACTTCTGAGTCAGTAATTTCCAACATTCCTCTTATTTCACTCACCATTCTCTCACATTCTCTTTCTCAGCATCATCAATTCTGATCTACGCCTTAAAATTCATCATAGCTGGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGGGTATTGCTTGAGCCCAGGAGTTTGAGAGCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATAGGAAAAATTGGCTGGGCGCGGTGGCTCACGCAGGTAATCCCAGCACTTTAGGAGGCCAAGGTGGGCGGATCCCCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGGGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTGATCCCATCAACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAAAATGAGACTCCGTCTCAAAAAAGAAAAATAGGAGGCAGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATAGGTGAAGCCCTGTCTGTACTAAAAATACAAAAATTAGCCGGACATGGTGGTGGACAACTGTAGTCCCAGCTACTCGGGAGACTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGTCTCAAAAAAGAAAAAAAAAAAAAAAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGAAGA 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Task1_train_827 | Assess the clinical impact of this variant on gene ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Intellectual disability, autosomal recessive 12 | TTTATTTATTATTTTTCAAAAGATGGGGTTTCTATATGTTGCCCAGGTGGACTAAGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGGCACAGGGCACTGCATCCAGCTCACTTCTCAGCACCACTAAATAGTGGCTGTTAACAGTTATTGGCCGGGCACGATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCTGGTGGATCACAAGGTCAGGAGATAGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAGTTCCAGCTACTCAGATGACTGAGGCAGGAGAATCCCTTGAACCCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACACCATCTGAAAAAAAAAACAAAAACATTTATGGTGGTCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCACTCCTGTAGTCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACACCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAATAAATAAATAGATAAAAAATAAACAGTTATGGTGAAGCTCAATGCTGACAAACGCAACAGAGAGGTCACTTGGGGACAAACTCTGATAAGGCTGCTGTCATTCAGCCCTTCATTCATTAAATCAAGCCTTTTTCATCAAAGTTTTCTGGTGAGAGTCCTGGGGTTAGGAAAGGACCCTATCCCAGGTACAGTCTTCCCCAGAAGCCTCTTCTAGTAATTTTGAAATATATGACATTATTATTAACTATAGTCAAATGTGCTCACCATAAAAAATTGGTAAGTAGGTGAGGTTGGCTTGATTTAATTATTCCACAATGTATACATCTATCAAAACATCACATTCTACCCCAAAAATATGTACAATTCTTTCAATTAAAAAATTAGTTTTAATTATTATTTTTTTTTTTTGAGACAGAATCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCTACCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGGTCAGGCTGGTTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTTTTAATTTTCTAAAAAAGATTTGCCATCTCTCCGCAGGCCCCATAGCTCCTCTGATCTGGGAGGCAGGATTTCATCCGCCGCCCCCAGGCCTGGAGAGTAGATTGCATCAGGCCAGGGAGTGACTCAGCCACCCCTTGCTGTTGGACTTCAGTGACTCACACTGCCTGCCCGCAGGGTGTCTATAACCTAGGTGCTTCATGACAAGAAGTGGCTTGAAGTCTGTGGGAACAAGGTCCTTCCGCCAGCACTGAGGAGGGAGGTTGGGAAGCTTAACGGTTTTCCTGGGACGAGGAAAGGGGTATGAAGGTTCTTTTTTCCCTGTCTTGGGAAGGGAGGAGGATGAGCTGTGGCACTCCTAGAGCAGGGTCATCATTACCGTGTAGACACAACTGATTACCAGTATCTGCCTTCAGGTTTCCACAGTCACGGAGTATTGGAGAGTGGTGACGAAGAAGGCACCGAGCCCTGGAAGGGGCAGTAAAGGTTTGAGCAAAGGCCCAACTGATCACTTCATCTCTCCTTTCAGTCCTGGACGCACAATATCCAGCGAGAGAAAGAGTTTCTGCGGAAGCTGGTGAAAGCTCGCGTCATCACTGATCTAAGCAGTGGCATCTGAGTGGGCCCAGCACATGGCCATAGAGGCCCAGGCACCACCAGGAGCAGCAGCCAGCACCACCTACACAGGAGTCTTCAGACCCAGAGAAGGACGGTGCCAAGGGCCCCAGGGGCAGCAAGGCCTTGGTGGAGCAGCCAGAGCTGTGCCTGCTCAGCAGCCAGTCTCAGAGACCAGCACTCAGCCTCATTCAGCATGGGTCCTTGATGCCAGAGGGCCAGCAGGCTCCTGGCTGTGCCCAGCAGGCCCAGCATGCAGGTGGTGGGACACTGGGCAGCAAGGCTGCTGCCGGAATCACTTCTCCAATCAGTGTTTGGTGTATTATCATTTTGTGAATTTGGGTAGGGGGGAGGGTAGGGATAATTTATTTTTAAATAAGGTTGGAGATGTCAAGTTGGGTTCACTTGCCATGCAGGAAGAGGCCCACTAGAGGGCCCATCAGGCAGTGTTACCTGTTAGCTCCCTGTGGGGCAGGAGTGCCAGGACCAGCCTGTACCTTGCTGTGGGGCTACAGGATGGTGGGCAGGATCTCAAGCCAGCCCCCTCCAGCTCATGACACTGTTTGGCCTTTCTTGGGGAGAAGGCGGGGTATTCCCACTCACCAGCCCTAGCTGTCCCATGGGGAAACCCTGGAGCCATCCCTTCGGAGCCAACAAGACCGCCCCAGGGCTATAGCAGAAAGAACTTTAAAGCTCAGGAGGGTGACGCCCAGCTCCGCCTGCTGGGAAGAGCTCCCCTCCACAGCTGCAGCTGATCCATAGGACTACCGCAGGCCCGGACTCACCAACTTGCCACATGTTCTAGGTTTCAGCAACAAGACTGCCAGGTGGTTGGGTTCTGCCTTTAGCCTGGACCAAAGGGAAGTGAGGCCCAAGGAGCTTACCCAAGCTGTGGCAGCCGTCCCAGGCCACCCCCATGGAAGCAATAAAGCTCTTCCCTGAGCCTGGCCTCTTTTTGCCTTCTCTGACTTTCCTGGAAGAAACAGGAACCTAAAGCCTTAGCAACTATGCCAAACCCTCGGGCCCTCTCTCCAGTCCACAGAGTCCTGGGTCCCTTTCACTTCTTGTGTCAATGCAGGACCTAGGTAGCCATCCAGAGGCCTCTGGAGCATCTCCTGTATCCTCTTTGCTTTGAGACCAGAGGTTTCAGGGCACACTCTTAGAGGAGACAGAGGCACAGGACTGGAGCCCTAGGACATTGCCTTGGGGTGCCACAGCCCCACCTCTGGAAGGACAGATATTCCTGCAAGCACAGGAAAGATATACTGCTGAGCCCCTGCAGCAAGCAGAGGCTCACAGACCTACCCTACTACTGACACTCCCGTCCCTCTGGGAAGGACATGCCCCAGCCCCAATCATTAGCACAGAGGCACACCCTCTCCCTTCAGCCCTGCTCTAGGTATCCTCTGTCATACTTTAGAAAAGATATCACGTCGCCTTCTTAAGAGTCCTAGAGTCTGATCCCTCTCTTCCCCAGCATCCCCAGGCAGGCCTGAGAATGGACAGACCAGACTGTCGCCTGCACTTGAGGCCATGAAGTGAGCTTTCTGTCACACACTGCCACTGTGGCAGGCAGTAAGTGGGGTGGCCGGCTCCTGCTCCTCTCTCCTGCCCACCCCAATCCAAGACTCCAGGCAGCCCTGGGCTGCCCTCCCACTGGTGAGCCCTAAGGCTGGAGTCCCGGCCATCCCAGGGACCAGCAGCCTCCCACATGCTCCTTCCCACTGTGGCCGGCCTTAGGCAGAAGCCTCCTGGGCTAGGGGGGTAAGGGAGGCCCTGACTGAGGGACAGGTCAACCCAGAAACCCCCTCCATTTCTACCGGAAATAAGGCCACTACCATGCACATGTTCCTGCCTGGATGGTGCCCCGTGGAGTTGTACAGGGCATAGGCTGAATGGCCATAAGTGGTGTCCCTGGCTGAAAAAGCCCCAAGGCAGGTGCCCCAACTGAGCAGCCGGTTGTGGGAGGTGACAGAGCAGACTGCTCCCTGCTTGGCCTCCTATCCCAGGGGGCTCCTGGCACGCCTGCAG 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TTTATTTATTATTTTTCAAAAGATGGGGTTTCTATATGTTGCCCAGGTGGACTAAGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGGCACAGGGCACTGCATCCAGCTCACTTCTCAGCACCACTAAATAGTGGCTGTTAACAGTTATTGGCCGGGCACGATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCTGGTGGATCACAAGGTCAGGAGATAGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAGTTCCAGCTACTCAGATGACTGAGGCAGGAGAATCCCTTGAACCCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACACCATCTGAAAAAAAAAACAAAAACATTTATGGTGGTCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCACTCCTGTAGTCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACACCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAATAAATAAATAGATAAAAAATAAACAGTTATGGTGAAGCTCAATGCTGACAAACGCAACAGAGAGGTCACTTGGGGACAAACTCTGATAAGGCTGCTGTCATTCAGCCCTTCATTCATTAAATCAAGCCTTTTTCATCAAAGTTTTCTGGTGAGAGTCCTGGGGTTAGGAAAGGACCCTATCCCAGGTACAGTCTTCCCCAGAAGCCTCTTCTAGTAATTTTGAAATATATGACATTATTATTAACTATAGTCAAATGTGCTCACCATAAAAAATTGGTAAGTAGGTGAGGTTGGCTTGATTTAATTATTCCACAATGTATACATCTATCAAAACATCACATTCTACCCCAAAAATATGTACAATTCTTTCAATTAAAAAATTAGTTTTAATTATTATTTTTTTTTTTTGAGACAGAATCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCTACCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGGTCAGGCTGGTTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTTTTAATTTTCTAAAAAAGATTTGCCATCTCTCCGCAGGCCCCATAGCTCCTCTGATCTGGGAGGCAGGATTTCATCCGCCGCCCCCAGGCCTGGAGAGTAGATTGCATCAGGCCAGGGAGTGACTCAGCCACCCCTTGCTGTTGGACTTCAGTGACTCACACTGCCTGCCCGCAGGGTGTCTATAACCTAGGTGCTTCATGACAAGAAGTGGCTTGAAGTCTGTGGGAACAAGGTCCTTCCGCCAGCACTGAGGAGGGAGGTTGGGAAGCTTAACGGTTTTCCTGGGACGAGGAAAGGGGTATGAAGGTTCTTTTTTCCCTGTCTTGGGAAGGGAGGAGGATGAGCTGTGGCACTCCTAGAGCAGGGTCATCATTACCGTGTAGACACAACTGATTACCAGTATCTGCCTTCAGGTTTCCACAGTCACGGAGTATTGGAGAGTGGTGACGAAGAAGGCACCGAGCCCTGGAAGGGGCAGTAAAGGTTTGAGCAAAGGCCCAACTGATCACTTCATCTCTCCTTTCAGTCCTGGACGCACAATATCCAGCGAGAGAAAGAGTTTCTGCGGAAGCTGGTGAAAGCTCGCGTCATCACTTATCTAAGCAGTGGCATCTGAGTGGGCCCAGCACATGGCCATAGAGGCCCAGGCACCACCAGGAGCAGCAGCCAGCACCACCTACACAGGAGTCTTCAGACCCAGAGAAGGACGGTGCCAAGGGCCCCAGGGGCAGCAAGGCCTTGGTGGAGCAGCCAGAGCTGTGCCTGCTCAGCAGCCAGTCTCAGAGACCAGCACTCAGCCTCATTCAGCATGGGTCCTTGATGCCAGAGGGCCAGCAGGCTCCTGGCTGTGCCCAGCAGGCCCAGCATGCAGGTGGTGGGACACTGGGCAGCAAGGCTGCTGCCGGAATCACTTCTCCAATCAGTGTTTGGTGTATTATCATTTTGTGAATTTGGGTAGGGGGGAGGGTAGGGATAATTTATTTTTAAATAAGGTTGGAGATGTCAAGTTGGGTTCACTTGCCATGCAGGAAGAGGCCCACTAGAGGGCCCATCAGGCAGTGTTACCTGTTAGCTCCCTGTGGGGCAGGAGTGCCAGGACCAGCCTGTACCTTGCTGTGGGGCTACAGGATGGTGGGCAGGATCTCAAGCCAGCCCCCTCCAGCTCATGACACTGTTTGGCCTTTCTTGGGGAGAAGGCGGGGTATTCCCACTCACCAGCCCTAGCTGTCCCATGGGGAAACCCTGGAGCCATCCCTTCGGAGCCAACAAGACCGCCCCAGGGCTATAGCAGAAAGAACTTTAAAGCTCAGGAGGGTGACGCCCAGCTCCGCCTGCTGGGAAGAGCTCCCCTCCACAGCTGCAGCTGATCCATAGGACTACCGCAGGCCCGGACTCACCAACTTGCCACATGTTCTAGGTTTCAGCAACAAGACTGCCAGGTGGTTGGGTTCTGCCTTTAGCCTGGACCAAAGGGAAGTGAGGCCCAAGGAGCTTACCCAAGCTGTGGCAGCCGTCCCAGGCCACCCCCATGGAAGCAATAAAGCTCTTCCCTGAGCCTGGCCTCTTTTTGCCTTCTCTGACTTTCCTGGAAGAAACAGGAACCTAAAGCCTTAGCAACTATGCCAAACCCTCGGGCCCTCTCTCCAGTCCACAGAGTCCTGGGTCCCTTTCACTTCTTGTGTCAATGCAGGACCTAGGTAGCCATCCAGAGGCCTCTGGAGCATCTCCTGTATCCTCTTTGCTTTGAGACCAGAGGTTTCAGGGCACACTCTTAGAGGAGACAGAGGCACAGGACTGGAGCCCTAGGACATTGCCTTGGGGTGCCACAGCCCCACCTCTGGAAGGACAGATATTCCTGCAAGCACAGGAAAGATATACTGCTGAGCCCCTGCAGCAAGCAGAGGCTCACAGACCTACCCTACTACTGACACTCCCGTCCCTCTGGGAAGGACATGCCCCAGCCCCAATCATTAGCACAGAGGCACACCCTCTCCCTTCAGCCCTGCTCTAGGTATCCTCTGTCATACTTTAGAAAAGATATCACGTCGCCTTCTTAAGAGTCCTAGAGTCTGATCCCTCTCTTCCCCAGCATCCCCAGGCAGGCCTGAGAATGGACAGACCAGACTGTCGCCTGCACTTGAGGCCATGAAGTGAGCTTTCTGTCACACACTGCCACTGTGGCAGGCAGTAAGTGGGGTGGCCGGCTCCTGCTCCTCTCTCCTGCCCACCCCAATCCAAGACTCCAGGCAGCCCTGGGCTGCCCTCCCACTGGTGAGCCCTAAGGCTGGAGTCCCGGCCATCCCAGGGACCAGCAGCCTCCCACATGCTCCTTCCCACTGTGGCCGGCCTTAGGCAGAAGCCTCCTGGGCTAGGGGGGTAAGGGAGGCCCTGACTGAGGGACAGGTCAACCCAGAAACCCCCTCCATTTCTACCGGAAATAAGGCCACTACCATGCACATGTTCCTGCCTGGATGGTGCCCCGTGGAGTTGTACAGGGCATAGGCTGAATGGCCATAAGTGGTGTCCCTGGCTGAAAAAGCCCCAAGGCAGGTGCCCCAACTGAGCAGCCGGTTGTGGGAGGTGACAGAGCAGACTGCTCCCTGCTTGGCCTCCTATCCCAGGGGGCTCCTGGCACGCCTGCAG 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Task1_train_828 | This genomic variant is located on Chromosome 1, within the SLC6A9 (solute carrier family 6 member 9) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Atypical glycine encephalopathy | CCCAGAAGGCATGGCACTCTGGGGTGGTGGTGCCTGCCCTCCCCTGCCTCCCACCACTGAGACTTCCGTTCCTCCTGTTTCAAAGCTGGGCCAGTGGCCAGAGCGGGGAGCCTGTGCCAGGCTCGGGAACATCCCACAACCTACCGGGTAGAGGCCTCAGCCCTCCACGGGCCTTTATTCAGAAACATGAGCCACAGGGGAAGTCTGGTGCTGAGCCCCCTGTGCCACCGAGGCATTAAACATGACAAGAGTGTGGCTCTGAACACTGGCCGGGCCACTGGGCCAGCCCTCTGACTATCACTCAGAGGTGGCCTTGCCTGTCCTCTGTGGAGTGACCATTACACTGTCAATACCTGCCTTCCCCGAATCCCACCCCAAACAGGAAGGAGCCAAGTCATACGGTTTTGGCCCCTGGACCATTCCTCCCTCCTGCAGAGGTGTTTCTAGTGTGGCGCTGGCCCAGGCTTGGAATTGGACAACCTGATTTGAATTGTGGCTCTGCCTCTTATTAGCTGTGTGACCATGGGCCAATTACTTAACATCCCCATGCCTCAGTTTCCTCATCTGTAAAGTGGGGACAACAATGACACCTTGGAGAGCTCTATCACGGGTTACATGGGAATGGTGTGTGGAAAGTGCCTGCTTCCTTGCCATGGTGGATTCCTTCCACCAATTCAGCTCCCTGATGGGAATTTCTCAGCTGTTGAATATTCATAAAACCTGGAACTCCCCTTCCCAAGCCACCCACCTCACTGCCTGGAAGGCTTGCAAAGTTGCCCCCATGCAGAGCTGACCTCTGACTCCACAGTCTGGTCTACCAGCCTTGGGCTGCTGCTGGAACACTGGTTCCCACCACATAGCCAAGGCCCTGGAACACCCTCCCTGGAGGGATGGGAGATAAGGCCAGCAGGCAGAGGCTGACACGCTATCGATATTGACTCCTGAGTCCCCGGGGGTGCCAGGCAGGAATGCCTGAGCAACGTCTGCAGTCAAATAAAGGCTGTGGCACTCCCCTCCTAACCTGAGGCCAGGGCCCAGGCAGCTCTGAGTCGCCACACGCCTCTCTGACTCTCTCCAACCTCCCTCAGCCTCCCAAAGGCCAGAGTCATGGGTATGGAGCTCCGGCCAGGTGCGGGAGCTCCCACTGTCCCTCCGCTGGGTCCCAAGAGATGGACACATGGCCAAGGGGCAGCGGGGGAAGGGAGGGGCCGGCCAGGGAACTCACGAAGATGATGGCGGGAGAGACGAAGCGCCAGCAGATCTGAAAGAAGAGGGGTGGTGGGAATCCCAGCATCATCTGGATGTCCTGGAAGTAGTTCCGGTGCCCTGGAGAGATGGGGGGTCAGCAGACCCGCAGGACAGAGTGGGCGGGCCAAGGGCCGGGTCGCGGGAGGCCGGAGGCTCGAGTGCTCACCGTAGATGTACATGATGGCCACACACATGATGCAGGAGATGACCACCAAGGAGAAGCTGGCCGCATAGTTGTCCATCAGCAGCAGCCAATAGATGCCTGCCTGGGGAACAGCGGGCAGCTGTGGGAGGCGCCTGCAGCCCGGGCTCCCCAACCCTTCCCTGCACGTCCTGGCAACTCTGGGCCAGCCCTTCCCTTACGCAGCTCTTACCTGGCTGGTGAGGGGGATGCCCAGCAGGAAGCCAGCCACAGCCACGCCCAAGGTCACATAGGTCTTTTTCTGCAGGATCCACTCATTCCCCACCTCATCCACAATGGCTGTGACCAGCGTCTCCAGGAGGCAGAACTGCAGGATGTGGCTGTCAGATCGGAGACCTGCCCCTTGTTCCTGTCCCCTCCCTTCCCCAAGCCTCCGGTCCACGTCCTGCACCTCGTACCTGAGTGCCCAGCCCCAGCAGGATAAGCATGAAGAAGAAGAGCAGAGACCACAGCGGGGAGATGGGAAGTAGTGTGAGGGCCTCGGGGTAAGCCACGAAGGCCAGGCCAGGGCCGTGGTCTGCCACACGGGACACATCCACGCCCAGGTGATTGGCCATGAAGCCGAGGATGGAGAAGATGACGAAGCCAGCATAGACGCTGGTGGCACAGTTGGTGATGCTGATGATGACACTGTCCCTGATGGGGAGGAAAACAGAGTTCAGCTTCCCTCTCCCCAATTTGGGCCAAGAGGAGACATGGAGACACGGAAAGTTCTAGGTACAAAGGCACCCCCAACTCTTTTTTTTTGGAGTGGGAGACAGGGTCTCACTCTGTTGTCCAGGATGGAGTGCAATGGCGCTATCACAGCTAACTGTAGCCTTGACCTCTTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCCAGCTAATTTTCTTTTTTATGTTTTATAAAGAAAGATGGGGTCTCACTATGCTGCCCAGGCTTGTCTTGAATTCCTGGGCTCAAGTGATCCTCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACGGCGTGAAGCACTGAGCCTGGCCCCCAACTCCTTTTCTGGTCTGTTCTGGGCATTTTTAAGGAGCCTGAGCTGCCTGAGTCCTCACAGACCCCTGGGACATCACTGTCCCTATCTCTCTTCTCTCTCCTGCCTAAACCTCTCTCCTCATTCTCCAACAACTTTATCCAGAACCAGTATTCCCAGAACCTCAAGATCATGAGGGGAAAGGAGGCCTCGTGGGCCCATGGCTGCACTGGAGCTGAGATCAGGCTGCAGAGAGTGCAGGAAGGGGGCAGCCTCAGCCCAGCAGGGAGCACTCACCGGTAACAGTTATTGTGGAACTTGTTGTAGGAAGCCATGGTGATGAGGCCTCCCCACGCGCAGCCCAGTGAGTAGAAGATCTGGGAGGCAGCATCACCCCACACCTGCAGGGAAGGACCGGTGGGTGAGGAGCTGTGGGCAGAGGCAGGCACCTCCCTGGCCCCTCCCCAGCCCCCTTCCGGTTTCCCTCACTTCCCACCTTGGCCTCCAGGATCTTGTCCCACTGCGGGGTTAGGTAGTACATGATGCCGTCAAAGGCTCCCTCCAGGGTCACTCCGCGGACAAACAGAATGGTCAGCACCACGTAGGGGAACGTGGCCGTGAAGTACACCACCTGGCACAAGAGGGCTCCATGGACTCTTCTGGGCTCTCCCCTCCCCTGGGCACCACCACCCTGGCTCCCTAATCACCACCAGCCCCCTGGTCCCTCTCCGGCTCCGGAGTCCCTTCAGCATCCCCTCCCTGCAATACACACATAACCCAGGTAGGGGGCAGGGTCTTTCTGGGTGGGCACAGACCCTGCTGGGGAGGGGTACTTGCTTTCCCTGAAGACTTGACCCCTCGGATGAGGCAGAGGAAGACGACCAACCAGGAGACACCGAGGCAGCCAAGGAGGGGCAGCCGCACCTCCCCAAAGTTCCCAATGTCATCTGACAGCTTCAGCACGTACAGCCTGGGAAGGGGAGACTCTGTCACTGAGGGCCAGCCGCCGCTGCCCAGCAACAAATTCCCAAGGCCCAGGGCCCACCCGGGCTGTACCCTCCTTTGTCATGAGGTCCCAGCAGCCACCTTGTGTGACATGGGAGCTACTTCAGGGGCCCAGCCCTGGCCGGCCCAGTCCCCTCCACCTGCTGCAGCCCCTGGGGAGCCCAACACAGTCCACTGCTCTGCAGCCTTTCCCAGGCCCTTCAAGGGCTCCTGGAGGCCACACCCCAGGCTTGGGTGGTCTTCCTAGTTCCTGGGCGAGGAGATCTCCTTGTCCCCAGTTGGGCTCAGCCCAGGTCCTTGTTTGCACACTTCTCCCTTCAGGAATGCCTTTTCCTCATTCTGTCAGGTGTCACCTCCTCCAGGAAGCCACCAGTGAGCATTTCACGTGCACCAATTAGCTCTATCTCTGATAAATTGAGGGAAGCAGTGGAATGCTCAGTAAAGATTGGACCCTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGTGGTGGGTGGATCACCTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACAAAAATTAGCCGGCCATGATGGCGGGTGCCTGTAATCCCAGCTA 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CCCAGAAGGCATGGCACTCTGGGGTGGTGGTGCCTGCCCTCCCCTGCCTCCCACCACTGAGACTTCCGTTCCTCCTGTTTCAAAGCTGGGCCAGTGGCCAGAGCGGGGAGCCTGTGCCAGGCTCGGGAACATCCCACAACCTACCGGGTAGAGGCCTCAGCCCTCCACGGGCCTTTATTCAGAAACATGAGCCACAGGGGAAGTCTGGTGCTGAGCCCCCTGTGCCACCGAGGCATTAAACATGACAAGAGTGTGGCTCTGAACACTGGCCGGGCCACTGGGCCAGCCCTCTGACTATCACTCAGAGGTGGCCTTGCCTGTCCTCTGTGGAGTGACCATTACACTGTCAATACCTGCCTTCCCCGAATCCCACCCCAAACAGGAAGGAGCCAAGTCATACGGTTTTGGCCCCTGGACCATTCCTCCCTCCTGCAGAGGTGTTTCTAGTGTGGCGCTGGCCCAGGCTTGGAATTGGACAACCTGATTTGAATTGTGGCTCTGCCTCTTATTAGCTGTGTGACCATGGGCCAATTACTTAACATCCCCATGCCTCAGTTTCCTCATCTGTAAAGTGGGGACAACAATGACACCTTGGAGAGCTCTATCACGGGTTACATGGGAATGGTGTGTGGAAAGTGCCTGCTTCCTTGCCATGGTGGATTCCTTCCACCAATTCAGCTCCCTGATGGGAATTTCTCAGCTGTTGAATATTCATAAAACCTGGAACTCCCCTTCCCAAGCCACCCACCTCACTGCCTGGAAGGCTTGCAAAGTTGCCCCCATGCAGAGCTGACCTCTGACTCCACAGTCTGGTCTACCAGCCTTGGGCTGCTGCTGGAACACTGGTTCCCACCACATAGCCAAGGCCCTGGAACACCCTCCCTGGAGGGATGGGAGATAAGGCCAGCAGGCAGAGGCTGACACGCTATCGATATTGACTCCTGAGTCCCCGGGGGTGCCAGGCAGGAATGCCTGAGCAACGTCTGCAGTCAAATAAAGGCTGTGGCACTCCCCTCCTAACCTGAGGCCAGGGCCCAGGCAGCTCTGAGTCGCCACACGCCTCTCTGACTCTCTCCAACCTCCCTCAGCCTCCCAAAGGCCAGAGTCATGGGTATGGAGCTCCGGCCAGGTGCGGGAGCTCCCACTGTCCCTCCGCTGGGTCCCAAGAGATGGACACATGGCCAAGGGGCAGCGGGGGAAGGGAGGGGCCGGCCAGGGAACTCACGAAGATGATGGCGGGAGAGACGAAGCGCCAGCAGATCTGAAAGAAGAGGGGTGGTGGGAATCCCAGCATCATCTGGATGTCCTGGAAGTAGTTCCGGTGCCCTGGAGAGATGGGGGGTCAGCAGACCCGCAGGACAGAGTGGGCGGGCCAAGGGCCGGGTCGCGGGAGGCCGGAGGCTCGAGTGCTCACCGTAGATGTACATGATGGCCACACACATGATGCAGGAGATGACCACCAAGGAGAAGCTGGCCGCATAGTTGTCCATCAGCAGCAGCCAATAGATGCCTGCCTGGGGAACAGCGGGCAGCTGTGGGAGGCGCCTGCAGCCCGGGCTCCCCAACCCTTCCCTGCACGTCCTGGCAACTCTGGGCCAGCCCTTCCCTTACGCAGCTCTTACCTGGCTGGTGAGGGGGATGCCCAGCAGGAAGCCAGCCACAGCCACGCCCAAGGTCACATAGGTCTTTTTCTGCAGGATCCACTCATTCCCCACCTCATCCACAATGGCTGTGACCAGCGTCTCCAGGAGGCAGAACTGCAGGATGTGGCTGTCAGATCGGAGACCTGCCCCTTGTTCCTGTCCCCTCCCTTCCCCAAGCCTCCGGTCCACGTCCTGCACCTCGTACCTGAGTGCCCAGCCCCAGCAGGATAAGCATGAAGAAGAAGAGCAGAGACCACAGCGGGGAGATGGGAAGTAGTGTGAGGGCCTCGGGGTAAGCCACGAAGGCCAGGCCAGGGCCGTGGTCTGCCACACGGGACACATCCACGCCCAGGTGATTGGCCATGAAGCCGAGGATGGAGAAGATGACGAAGCCAGCATAGACGCCGGTGGCACAGTTGGTGATGCTGATGATGACACTGTCCCTGATGGGGAGGAAAACAGAGTTCAGCTTCCCTCTCCCCAATTTGGGCCAAGAGGAGACATGGAGACACGGAAAGTTCTAGGTACAAAGGCACCCCCAACTCTTTTTTTTTGGAGTGGGAGACAGGGTCTCACTCTGTTGTCCAGGATGGAGTGCAATGGCGCTATCACAGCTAACTGTAGCCTTGACCTCTTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCCAGCTAATTTTCTTTTTTATGTTTTATAAAGAAAGATGGGGTCTCACTATGCTGCCCAGGCTTGTCTTGAATTCCTGGGCTCAAGTGATCCTCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACGGCGTGAAGCACTGAGCCTGGCCCCCAACTCCTTTTCTGGTCTGTTCTGGGCATTTTTAAGGAGCCTGAGCTGCCTGAGTCCTCACAGACCCCTGGGACATCACTGTCCCTATCTCTCTTCTCTCTCCTGCCTAAACCTCTCTCCTCATTCTCCAACAACTTTATCCAGAACCAGTATTCCCAGAACCTCAAGATCATGAGGGGAAAGGAGGCCTCGTGGGCCCATGGCTGCACTGGAGCTGAGATCAGGCTGCAGAGAGTGCAGGAAGGGGGCAGCCTCAGCCCAGCAGGGAGCACTCACCGGTAACAGTTATTGTGGAACTTGTTGTAGGAAGCCATGGTGATGAGGCCTCCCCACGCGCAGCCCAGTGAGTAGAAGATCTGGGAGGCAGCATCACCCCACACCTGCAGGGAAGGACCGGTGGGTGAGGAGCTGTGGGCAGAGGCAGGCACCTCCCTGGCCCCTCCCCAGCCCCCTTCCGGTTTCCCTCACTTCCCACCTTGGCCTCCAGGATCTTGTCCCACTGCGGGGTTAGGTAGTACATGATGCCGTCAAAGGCTCCCTCCAGGGTCACTCCGCGGACAAACAGAATGGTCAGCACCACGTAGGGGAACGTGGCCGTGAAGTACACCACCTGGCACAAGAGGGCTCCATGGACTCTTCTGGGCTCTCCCCTCCCCTGGGCACCACCACCCTGGCTCCCTAATCACCACCAGCCCCCTGGTCCCTCTCCGGCTCCGGAGTCCCTTCAGCATCCCCTCCCTGCAATACACACATAACCCAGGTAGGGGGCAGGGTCTTTCTGGGTGGGCACAGACCCTGCTGGGGAGGGGTACTTGCTTTCCCTGAAGACTTGACCCCTCGGATGAGGCAGAGGAAGACGACCAACCAGGAGACACCGAGGCAGCCAAGGAGGGGCAGCCGCACCTCCCCAAAGTTCCCAATGTCATCTGACAGCTTCAGCACGTACAGCCTGGGAAGGGGAGACTCTGTCACTGAGGGCCAGCCGCCGCTGCCCAGCAACAAATTCCCAAGGCCCAGGGCCCACCCGGGCTGTACCCTCCTTTGTCATGAGGTCCCAGCAGCCACCTTGTGTGACATGGGAGCTACTTCAGGGGCCCAGCCCTGGCCGGCCCAGTCCCCTCCACCTGCTGCAGCCCCTGGGGAGCCCAACACAGTCCACTGCTCTGCAGCCTTTCCCAGGCCCTTCAAGGGCTCCTGGAGGCCACACCCCAGGCTTGGGTGGTCTTCCTAGTTCCTGGGCGAGGAGATCTCCTTGTCCCCAGTTGGGCTCAGCCCAGGTCCTTGTTTGCACACTTCTCCCTTCAGGAATGCCTTTTCCTCATTCTGTCAGGTGTCACCTCCTCCAGGAAGCCACCAGTGAGCATTTCACGTGCACCAATTAGCTCTATCTCTGATAAATTGAGGGAAGCAGTGGAATGCTCAGTAAAGATTGGACCCTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGTGGTGGGTGGATCACCTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACAAAAATTAGCCGGCCATGATGGCGGGTGCCTGTAATCCCAGCTA 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Task1_train_829 | This variant affects the gene RNF220 (ring finger protein 220) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy | CTTTTGGTTTGGGTCTTTCTGGGGTTGCTCTGTTTTGGAGTTGGAGTAGCTCCCTGCCTCAGGCTCACAACAGGCAGGAGCTGGAGCCCTAGCACACTCACTGGGACCAGTCTTTGTTGATGCTGCTCAGTTAGGAGGTCCCCTTGAAACAGGAGGGCATTCTAGGTTGTGAAGTCAGTTCTGGTTTCCTATCTTGCCTTTGCCACTTTTTAGCTACTTGGACACGTACCTTGATCTCTCTAAGCTTTGGGTTTCTTCATCTGTTAAAATGGGATAATGCAATCTAGCTTCAGCAAGTGGTAGTAAATGAGCTACCTTGGGTAAGGTACTTGGCTGTGAGCCTGACACACGGTAGAAGCTTAAATTGTAACATAGCAGCTCTCACCTGTGTTCCCCTCCTAGATTGCATTCATGAGCTTCCCGTTAGGGTCACTGTCCATGAGAAAGTTCTTCCTGGCCCTGCTTTGGGGAACCTTTCCCTCCTTTGCTGGCTCTCCCCACTCCCCATCAGTCTGGTCCCAGAGTAGCCATCTCTGATCCTGCTGTGGCATTCTGGAAGGGACTAGAGGGAAGAGAGTTTCTTGTTTTGACCCCTTCCTGCTTCAGTGACAGGAGGGCTACAGAGAGGGATTAGTGAGCTAATTAGAAATGATTGCATTGCTCAGCATTAATTAGCAGTGTTGTGGGCTTGCAGTGTGCACTTTGGAACTGAGCCCCCTGTGGGACAACATGGCAGGCAGCCCTCTGCCTCCAGGGCCTGCCAGCCCCTCTGTACTGATTAGAAATGATGGAACAGGTTCGGGTGGGCACAATAAGGGCTGCCTTCTCAGGGTTCCCTGAGCCTTCTGACCTGGCTGCCAAAGGTCTGACCCAGACCGTCTTACCTTTATGACTGGGCCTCAGTCTCCTCTTCTGTGAAATGGGATTAGTGGACCTCAGAGAAATTCTTCCTGATAAGATTCTAGGTGGGATGCTAGGAGCTGTACCTCAGGGCTCTTGGCCCAGGAACCAAAGAGGATTTAGCTGATGAGTGAACAGCAGGCCAAGTCAGGCCATCGGAGGGGTTAGGTTCTAGTCAAGAGATGCTCTTTAGAGTTGTATTTCCTGACACCAAAAGAGTTCATGGTCTTGGCCTTCTGGAGAGATACCTAGCAACATGGAGTGTCTTTGCTCACTGGATTTTTATTAAACACTGCAAATAGAAAGGTATGGGTAGACCTTGCACCAGCTGCAGCCAAAGAGTGGACTTACTCACTGGCTTAGTTAGCACCAGTCTCCTCCCCAGGTGCTCTTGGCAAAGCCCAGTCCCCAAAGGAGCAGGAGGTATTTCAAGATGAGGGCCAGATCAGGCACTGAATAAAAAGGCCAATGGCTGGCAAGAGGTCAGGATGTGTCAGCTCCACTGGGACCCTGGGGGCTGCAGTGACCGTCTGCTTGTTCTGTGCTTTGTTTTCGGTTTCCCCGTGCAGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGGTATGTCCCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAGGAGATGAGTAGGCATGTGGAGCATTGCCTTTCTAAGGTAGAGGGGCCATCACCACCCACCTTCCTTCCCCGCTCCCTTCCCCCGACACTAGCTGCTGACTGCCCCTGAATCTGTGGGCTCTTGGGGTCTCCATGTGGTCTCAGCAGCTTCTTCCCTTCTGACCACTGCTCTCTCCTTTTGCTTTCACTCTCACTCATTCCCTCCTTGGGCTCCAGCGGAAAACTATTGGGAAGAGGCCCAGGTCTTTGACCTCTAAATTGGTTTGCTTCAAAGGAGCCCTAGAGCTGAGGGCCCACTTGGCACACCACAGCTGGGGCTAGAGCTGTGCCTTCGTTGCAGACTGTGGGGAGCAGGTGGGGATGGCCTGGGCCCAGCATGATCCTGCTCTGCTCTTCACAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCGGATACGGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGTACAAGCAGCTGACACGTAGACATTGGCACTCTGGTGCCAGGCCTCTGCTGGGTATCCATCTGCTGGAAGCCAAGAGGCCGAGGCTGGTGGCTGGTCATCCATCCGTTCCACCACGTGGGGACTGCTGCTGGTGGGGCTCCTTTGTGACCGTGCTGCCTGCCTGTGATGTGCATATTAAAATGGATGTATTTGGGTGGGGAAATGGAATTGTGAGGCTGCAAGCTAGGAGTGACGAAGGGGGGCTCTCAGCTTCGGGTGATGCATTGAAGGTGACAGCCAAGCCGCGTTAGCACCTGCATAAAATATTAAAGGGACGGTTATGCATTTATCACTCCATCCCTCTTAAGGCTGATAAATGAGAATCCAGCAACCTGCTGTACACCTCCAGCACTGGGGGCCCTGAGGGCTTCCAGGCAAACACATTGGATTTTCCTCCTCCTCCTCTTCAGCCCTATGTCAGGGAAATCAGTTACAGAGGAGAGTGAGTTATGGCAAAATTTGACCTCCCATGAGCTTCATTGGTGAATCTAATTTTAGCTCTGATCCCATCCCTTCTCCCTGGGCGCCCTCTGCCCTGAAGCAAGAGGGGCCTGGGCCCAGCTGCTCCCTCCTTCCCTTGGGCTCTCCCCAGTTGCTACAAAGGAGTGTGCAGGGCCCTGCCCATCTCCAGTGCCCTCCCAGCTCCTTGGAAGAGCAAGGCTTGACACCCCCCACCAGGTCAGACAGCAGAATTGGTTGGGTGCCCAGGGTTAGTGACTTGTTAAACTCCCCAGCCTTGGGCAGGGGAAAAGGGGAGCTGTCTGCCTCTTGGCCTCCAGCTCTTCTCTCTTTCTGTGCACAAGCACAGCTGGTACTGCAGCTTGTGGTCATTAAGTGAGCCAATCTGCTTCCCGTCTGCCTCTCTCTCTGGGCAACACCTTTGGGAATACTGCTGTGTATGGTCCCTGGGGAATCTCACAGCAGCTGGGAAGAAGTTCTCTGCCTTCGTGGGGCCGTGCTACCTGGGCAGATGCTGAGGAGTGGTCTCTGCAGGGCCGTCCAGTGCAGACTGGTTCCACGAAGGGGCTAAGAGCCCAGATGAGACATTATGCCTCTGGGCGTCTCTCACATTACCCAGGTGTTTGGGGGCAAGCCAAAACATAAATCAGGAAGGTTAGTCAGACCAAACAGTCTCCCTGAGCCGGAGCTGGAGAGTGTTAGTTTGCCATTTCACTCATCCCGTACTGGAGCCTTCGAGTATCTGAGGCCCTAGAAGAGTGAGCAGCAGGGCTGACGACTGTCCCATGAGTTGGACACATGGGTGTCCGATGGCAGCCACACAGGGTCAGTTTCAACGTGCTGCTCTGGTTAGCTCTGTTGGCAGCTGCAACTGCTCACATCCTCCATTGCTGTGGCACCTTCTTAGGTTCCTTGGCACAGACCTGGACCTGATGGCTTCTGGGCACCAGACAGGGCTTATGGAGGATAAAGCTGCAAAGGGCCTGCTGATTTGACAAGAGTATTTCCCCTGTGCCGGGATGCACTTGCACAGCAGTGTGAGGGGCTCTTAGGCCCCGGGCGGGTATCCGTTTTCCCTGAGTGTTTACACTGTGAGGTTGTTCCTTTCAAGAATTCCTGAGGGGAGTTCAAAGGGGGCTTTTCTTTGAGCGATTTGGAGAGCGAGAATGAGAGTGAGACTTGAAGAGGGAACAGGGGCCGGAGGTGCCTTTATCTGCAGAGAATTGCTCCAGCTTTCCTGATAGAAGCTGCTGCCGCCTCTTAAACAGCTTAGTGCAGTCAAAAGACAGGCAGACTTGAAAGGCTGTTTTACAGCGAGATCAGCGGGGGCCACGAGGCAGAGAGCGGGGCGCAGTGGAGCGGAGGAGGCTGAGGCTCCTCAGTGGGGGGGCTATCAAAGGGAGGCCCTGGCTGATCCCTACTGCCTCTGCCCCCAAAACCCTGTCTGCAAAAGCTGGCCATCTGTCAGCCTACCCTCCCTGGCCAGGACTGATAGGCCCTAACTCTTGG 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CTTTTGGTTTGGGTCTTTCTGGGGTTGCTCTGTTTTGGAGTTGGAGTAGCTCCCTGCCTCAGGCTCACAACAGGCAGGAGCTGGAGCCCTAGCACACTCACTGGGACCAGTCTTTGTTGATGCTGCTCAGTTAGGAGGTCCCCTTGAAACAGGAGGGCATTCTAGGTTGTGAAGTCAGTTCTGGTTTCCTATCTTGCCTTTGCCACTTTTTAGCTACTTGGACACGTACCTTGATCTCTCTAAGCTTTGGGTTTCTTCATCTGTTAAAATGGGATAATGCAATCTAGCTTCAGCAAGTGGTAGTAAATGAGCTACCTTGGGTAAGGTACTTGGCTGTGAGCCTGACACACGGTAGAAGCTTAAATTGTAACATAGCAGCTCTCACCTGTGTTCCCCTCCTAGATTGCATTCATGAGCTTCCCGTTAGGGTCACTGTCCATGAGAAAGTTCTTCCTGGCCCTGCTTTGGGGAACCTTTCCCTCCTTTGCTGGCTCTCCCCACTCCCCATCAGTCTGGTCCCAGAGTAGCCATCTCTGATCCTGCTGTGGCATTCTGGAAGGGACTAGAGGGAAGAGAGTTTCTTGTTTTGACCCCTTCCTGCTTCAGTGACAGGAGGGCTACAGAGAGGGATTAGTGAGCTAATTAGAAATGATTGCATTGCTCAGCATTAATTAGCAGTGTTGTGGGCTTGCAGTGTGCACTTTGGAACTGAGCCCCCTGTGGGACAACATGGCAGGCAGCCCTCTGCCTCCAGGGCCTGCCAGCCCCTCTGTACTGATTAGAAATGATGGAACAGGTTCGGGTGGGCACAATAAGGGCTGCCTTCTCAGGGTTCCCTGAGCCTTCTGACCTGGCTGCCAAAGGTCTGACCCAGACCGTCTTACCTTTATGACTGGGCCTCAGTCTCCTCTTCTGTGAAATGGGATTAGTGGACCTCAGAGAAATTCTTCCTGATAAGATTCTAGGTGGGATGCTAGGAGCTGTACCTCAGGGCTCTTGGCCCAGGAACCAAAGAGGATTTAGCTGATGAGTGAACAGCAGGCCAAGTCAGGCCATCGGAGGGGTTAGGTTCTAGTCAAGAGATGCTCTTTAGAGTTGTATTTCCTGACACCAAAAGAGTTCATGGTCTTGGCCTTCTGGAGAGATACCTAGCAACATGGAGTGTCTTTGCTCACTGGATTTTTATTAAACACTGCAAATAGAAAGGTATGGGTAGACCTTGCACCAGCTGCAGCCAAAGAGTGGACTTACTCACTGGCTTAGTTAGCACCAGTCTCCTCCCCAGGTGCTCTTGGCAAAGCCCAGTCCCCAAAGGAGCAGGAGGTATTTCAAGATGAGGGCCAGATCAGGCACTGAATAAAAAGGCCAATGGCTGGCAAGAGGTCAGGATGTGTCAGCTCCACTGGGACCCTGGGGGCTGCAGTGACCGTCTGCTTGTTCTGTGCTTTGTTTTCGGTTTCCCCGTGCAGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGGTATGTCCCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAGGAGATGAGTAGGCATGTGGAGCATTGCCTTTCTAAGGTAGAGGGGCCATCACCACCCACCTTCCTTCCCCGCTCCCTTCCCCCGACACTAGCTGCTGACTGCCCCTGAATCTGTGGGCTCTTGGGGTCTCCATGTGGTCTCAGCAGCTTCTTCCCTTCTGACCACTGCTCTCTCCTTTTGCTTTCACTCTCACTCATTCCCTCCTTGGGCTCCAGCGGAAAACTATTGGGAAGAGGCCCAGGTCTTTGACCTCTAAATTGGTTTGCTTCAAAGGAGCCCTAGAGCTGAGGGCCCACTTGGCACACCACAGCTGGGGCTAGAGCTGTGCCTTCGTTGCAGACTGTGGGGAGCAGGTGGGGATGGCCTGGGCCCAGCATGATCCTGCTCTGCTCTTCACAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCAGATACGGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGTACAAGCAGCTGACACGTAGACATTGGCACTCTGGTGCCAGGCCTCTGCTGGGTATCCATCTGCTGGAAGCCAAGAGGCCGAGGCTGGTGGCTGGTCATCCATCCGTTCCACCACGTGGGGACTGCTGCTGGTGGGGCTCCTTTGTGACCGTGCTGCCTGCCTGTGATGTGCATATTAAAATGGATGTATTTGGGTGGGGAAATGGAATTGTGAGGCTGCAAGCTAGGAGTGACGAAGGGGGGCTCTCAGCTTCGGGTGATGCATTGAAGGTGACAGCCAAGCCGCGTTAGCACCTGCATAAAATATTAAAGGGACGGTTATGCATTTATCACTCCATCCCTCTTAAGGCTGATAAATGAGAATCCAGCAACCTGCTGTACACCTCCAGCACTGGGGGCCCTGAGGGCTTCCAGGCAAACACATTGGATTTTCCTCCTCCTCCTCTTCAGCCCTATGTCAGGGAAATCAGTTACAGAGGAGAGTGAGTTATGGCAAAATTTGACCTCCCATGAGCTTCATTGGTGAATCTAATTTTAGCTCTGATCCCATCCCTTCTCCCTGGGCGCCCTCTGCCCTGAAGCAAGAGGGGCCTGGGCCCAGCTGCTCCCTCCTTCCCTTGGGCTCTCCCCAGTTGCTACAAAGGAGTGTGCAGGGCCCTGCCCATCTCCAGTGCCCTCCCAGCTCCTTGGAAGAGCAAGGCTTGACACCCCCCACCAGGTCAGACAGCAGAATTGGTTGGGTGCCCAGGGTTAGTGACTTGTTAAACTCCCCAGCCTTGGGCAGGGGAAAAGGGGAGCTGTCTGCCTCTTGGCCTCCAGCTCTTCTCTCTTTCTGTGCACAAGCACAGCTGGTACTGCAGCTTGTGGTCATTAAGTGAGCCAATCTGCTTCCCGTCTGCCTCTCTCTCTGGGCAACACCTTTGGGAATACTGCTGTGTATGGTCCCTGGGGAATCTCACAGCAGCTGGGAAGAAGTTCTCTGCCTTCGTGGGGCCGTGCTACCTGGGCAGATGCTGAGGAGTGGTCTCTGCAGGGCCGTCCAGTGCAGACTGGTTCCACGAAGGGGCTAAGAGCCCAGATGAGACATTATGCCTCTGGGCGTCTCTCACATTACCCAGGTGTTTGGGGGCAAGCCAAAACATAAATCAGGAAGGTTAGTCAGACCAAACAGTCTCCCTGAGCCGGAGCTGGAGAGTGTTAGTTTGCCATTTCACTCATCCCGTACTGGAGCCTTCGAGTATCTGAGGCCCTAGAAGAGTGAGCAGCAGGGCTGACGACTGTCCCATGAGTTGGACACATGGGTGTCCGATGGCAGCCACACAGGGTCAGTTTCAACGTGCTGCTCTGGTTAGCTCTGTTGGCAGCTGCAACTGCTCACATCCTCCATTGCTGTGGCACCTTCTTAGGTTCCTTGGCACAGACCTGGACCTGATGGCTTCTGGGCACCAGACAGGGCTTATGGAGGATAAAGCTGCAAAGGGCCTGCTGATTTGACAAGAGTATTTCCCCTGTGCCGGGATGCACTTGCACAGCAGTGTGAGGGGCTCTTAGGCCCCGGGCGGGTATCCGTTTTCCCTGAGTGTTTACACTGTGAGGTTGTTCCTTTCAAGAATTCCTGAGGGGAGTTCAAAGGGGGCTTTTCTTTGAGCGATTTGGAGAGCGAGAATGAGAGTGAGACTTGAAGAGGGAACAGGGGCCGGAGGTGCCTTTATCTGCAGAGAATTGCTCCAGCTTTCCTGATAGAAGCTGCTGCCGCCTCTTAAACAGCTTAGTGCAGTCAAAAGACAGGCAGACTTGAAAGGCTGTTTTACAGCGAGATCAGCGGGGGCCACGAGGCAGAGAGCGGGGCGCAGTGGAGCGGAGGAGGCTGAGGCTCCTCAGTGGGGGGGCTATCAAAGGGAGGCCCTGGCTGATCCCTACTGCCTCTGCCCCCAAAACCCTGTCTGCAAAAGCTGGCCATCTGTCAGCCTACCCTCCCTGGCCAGGACTGATAGGCCCTAACTCTTGG 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Task1_train_830 | This variant lies on Chromosome 1 and affects the gene RNF220 (ring finger protein 220). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy | GTTTGGGTCTTTCTGGGGTTGCTCTGTTTTGGAGTTGGAGTAGCTCCCTGCCTCAGGCTCACAACAGGCAGGAGCTGGAGCCCTAGCACACTCACTGGGACCAGTCTTTGTTGATGCTGCTCAGTTAGGAGGTCCCCTTGAAACAGGAGGGCATTCTAGGTTGTGAAGTCAGTTCTGGTTTCCTATCTTGCCTTTGCCACTTTTTAGCTACTTGGACACGTACCTTGATCTCTCTAAGCTTTGGGTTTCTTCATCTGTTAAAATGGGATAATGCAATCTAGCTTCAGCAAGTGGTAGTAAATGAGCTACCTTGGGTAAGGTACTTGGCTGTGAGCCTGACACACGGTAGAAGCTTAAATTGTAACATAGCAGCTCTCACCTGTGTTCCCCTCCTAGATTGCATTCATGAGCTTCCCGTTAGGGTCACTGTCCATGAGAAAGTTCTTCCTGGCCCTGCTTTGGGGAACCTTTCCCTCCTTTGCTGGCTCTCCCCACTCCCCATCAGTCTGGTCCCAGAGTAGCCATCTCTGATCCTGCTGTGGCATTCTGGAAGGGACTAGAGGGAAGAGAGTTTCTTGTTTTGACCCCTTCCTGCTTCAGTGACAGGAGGGCTACAGAGAGGGATTAGTGAGCTAATTAGAAATGATTGCATTGCTCAGCATTAATTAGCAGTGTTGTGGGCTTGCAGTGTGCACTTTGGAACTGAGCCCCCTGTGGGACAACATGGCAGGCAGCCCTCTGCCTCCAGGGCCTGCCAGCCCCTCTGTACTGATTAGAAATGATGGAACAGGTTCGGGTGGGCACAATAAGGGCTGCCTTCTCAGGGTTCCCTGAGCCTTCTGACCTGGCTGCCAAAGGTCTGACCCAGACCGTCTTACCTTTATGACTGGGCCTCAGTCTCCTCTTCTGTGAAATGGGATTAGTGGACCTCAGAGAAATTCTTCCTGATAAGATTCTAGGTGGGATGCTAGGAGCTGTACCTCAGGGCTCTTGGCCCAGGAACCAAAGAGGATTTAGCTGATGAGTGAACAGCAGGCCAAGTCAGGCCATCGGAGGGGTTAGGTTCTAGTCAAGAGATGCTCTTTAGAGTTGTATTTCCTGACACCAAAAGAGTTCATGGTCTTGGCCTTCTGGAGAGATACCTAGCAACATGGAGTGTCTTTGCTCACTGGATTTTTATTAAACACTGCAAATAGAAAGGTATGGGTAGACCTTGCACCAGCTGCAGCCAAAGAGTGGACTTACTCACTGGCTTAGTTAGCACCAGTCTCCTCCCCAGGTGCTCTTGGCAAAGCCCAGTCCCCAAAGGAGCAGGAGGTATTTCAAGATGAGGGCCAGATCAGGCACTGAATAAAAAGGCCAATGGCTGGCAAGAGGTCAGGATGTGTCAGCTCCACTGGGACCCTGGGGGCTGCAGTGACCGTCTGCTTGTTCTGTGCTTTGTTTTCGGTTTCCCCGTGCAGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGGTATGTCCCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAGGAGATGAGTAGGCATGTGGAGCATTGCCTTTCTAAGGTAGAGGGGCCATCACCACCCACCTTCCTTCCCCGCTCCCTTCCCCCGACACTAGCTGCTGACTGCCCCTGAATCTGTGGGCTCTTGGGGTCTCCATGTGGTCTCAGCAGCTTCTTCCCTTCTGACCACTGCTCTCTCCTTTTGCTTTCACTCTCACTCATTCCCTCCTTGGGCTCCAGCGGAAAACTATTGGGAAGAGGCCCAGGTCTTTGACCTCTAAATTGGTTTGCTTCAAAGGAGCCCTAGAGCTGAGGGCCCACTTGGCACACCACAGCTGGGGCTAGAGCTGTGCCTTCGTTGCAGACTGTGGGGAGCAGGTGGGGATGGCCTGGGCCCAGCATGATCCTGCTCTGCTCTTCACAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCGGATACGGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGTACAAGCAGCTGACACGTAGACATTGGCACTCTGGTGCCAGGCCTCTGCTGGGTATCCATCTGCTGGAAGCCAAGAGGCCGAGGCTGGTGGCTGGTCATCCATCCGTTCCACCACGTGGGGACTGCTGCTGGTGGGGCTCCTTTGTGACCGTGCTGCCTGCCTGTGATGTGCATATTAAAATGGATGTATTTGGGTGGGGAAATGGAATTGTGAGGCTGCAAGCTAGGAGTGACGAAGGGGGGCTCTCAGCTTCGGGTGATGCATTGAAGGTGACAGCCAAGCCGCGTTAGCACCTGCATAAAATATTAAAGGGACGGTTATGCATTTATCACTCCATCCCTCTTAAGGCTGATAAATGAGAATCCAGCAACCTGCTGTACACCTCCAGCACTGGGGGCCCTGAGGGCTTCCAGGCAAACACATTGGATTTTCCTCCTCCTCCTCTTCAGCCCTATGTCAGGGAAATCAGTTACAGAGGAGAGTGAGTTATGGCAAAATTTGACCTCCCATGAGCTTCATTGGTGAATCTAATTTTAGCTCTGATCCCATCCCTTCTCCCTGGGCGCCCTCTGCCCTGAAGCAAGAGGGGCCTGGGCCCAGCTGCTCCCTCCTTCCCTTGGGCTCTCCCCAGTTGCTACAAAGGAGTGTGCAGGGCCCTGCCCATCTCCAGTGCCCTCCCAGCTCCTTGGAAGAGCAAGGCTTGACACCCCCCACCAGGTCAGACAGCAGAATTGGTTGGGTGCCCAGGGTTAGTGACTTGTTAAACTCCCCAGCCTTGGGCAGGGGAAAAGGGGAGCTGTCTGCCTCTTGGCCTCCAGCTCTTCTCTCTTTCTGTGCACAAGCACAGCTGGTACTGCAGCTTGTGGTCATTAAGTGAGCCAATCTGCTTCCCGTCTGCCTCTCTCTCTGGGCAACACCTTTGGGAATACTGCTGTGTATGGTCCCTGGGGAATCTCACAGCAGCTGGGAAGAAGTTCTCTGCCTTCGTGGGGCCGTGCTACCTGGGCAGATGCTGAGGAGTGGTCTCTGCAGGGCCGTCCAGTGCAGACTGGTTCCACGAAGGGGCTAAGAGCCCAGATGAGACATTATGCCTCTGGGCGTCTCTCACATTACCCAGGTGTTTGGGGGCAAGCCAAAACATAAATCAGGAAGGTTAGTCAGACCAAACAGTCTCCCTGAGCCGGAGCTGGAGAGTGTTAGTTTGCCATTTCACTCATCCCGTACTGGAGCCTTCGAGTATCTGAGGCCCTAGAAGAGTGAGCAGCAGGGCTGACGACTGTCCCATGAGTTGGACACATGGGTGTCCGATGGCAGCCACACAGGGTCAGTTTCAACGTGCTGCTCTGGTTAGCTCTGTTGGCAGCTGCAACTGCTCACATCCTCCATTGCTGTGGCACCTTCTTAGGTTCCTTGGCACAGACCTGGACCTGATGGCTTCTGGGCACCAGACAGGGCTTATGGAGGATAAAGCTGCAAAGGGCCTGCTGATTTGACAAGAGTATTTCCCCTGTGCCGGGATGCACTTGCACAGCAGTGTGAGGGGCTCTTAGGCCCCGGGCGGGTATCCGTTTTCCCTGAGTGTTTACACTGTGAGGTTGTTCCTTTCAAGAATTCCTGAGGGGAGTTCAAAGGGGGCTTTTCTTTGAGCGATTTGGAGAGCGAGAATGAGAGTGAGACTTGAAGAGGGAACAGGGGCCGGAGGTGCCTTTATCTGCAGAGAATTGCTCCAGCTTTCCTGATAGAAGCTGCTGCCGCCTCTTAAACAGCTTAGTGCAGTCAAAAGACAGGCAGACTTGAAAGGCTGTTTTACAGCGAGATCAGCGGGGGCCACGAGGCAGAGAGCGGGGCGCAGTGGAGCGGAGGAGGCTGAGGCTCCTCAGTGGGGGGGCTATCAAAGGGAGGCCCTGGCTGATCCCTACTGCCTCTGCCCCCAAAACCCTGTCTGCAAAAGCTGGCCATCTGTCAGCCTACCCTCCCTGGCCAGGACTGATAGGCCCTAACTCTTGGGGGGTT 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GTTTGGGTCTTTCTGGGGTTGCTCTGTTTTGGAGTTGGAGTAGCTCCCTGCCTCAGGCTCACAACAGGCAGGAGCTGGAGCCCTAGCACACTCACTGGGACCAGTCTTTGTTGATGCTGCTCAGTTAGGAGGTCCCCTTGAAACAGGAGGGCATTCTAGGTTGTGAAGTCAGTTCTGGTTTCCTATCTTGCCTTTGCCACTTTTTAGCTACTTGGACACGTACCTTGATCTCTCTAAGCTTTGGGTTTCTTCATCTGTTAAAATGGGATAATGCAATCTAGCTTCAGCAAGTGGTAGTAAATGAGCTACCTTGGGTAAGGTACTTGGCTGTGAGCCTGACACACGGTAGAAGCTTAAATTGTAACATAGCAGCTCTCACCTGTGTTCCCCTCCTAGATTGCATTCATGAGCTTCCCGTTAGGGTCACTGTCCATGAGAAAGTTCTTCCTGGCCCTGCTTTGGGGAACCTTTCCCTCCTTTGCTGGCTCTCCCCACTCCCCATCAGTCTGGTCCCAGAGTAGCCATCTCTGATCCTGCTGTGGCATTCTGGAAGGGACTAGAGGGAAGAGAGTTTCTTGTTTTGACCCCTTCCTGCTTCAGTGACAGGAGGGCTACAGAGAGGGATTAGTGAGCTAATTAGAAATGATTGCATTGCTCAGCATTAATTAGCAGTGTTGTGGGCTTGCAGTGTGCACTTTGGAACTGAGCCCCCTGTGGGACAACATGGCAGGCAGCCCTCTGCCTCCAGGGCCTGCCAGCCCCTCTGTACTGATTAGAAATGATGGAACAGGTTCGGGTGGGCACAATAAGGGCTGCCTTCTCAGGGTTCCCTGAGCCTTCTGACCTGGCTGCCAAAGGTCTGACCCAGACCGTCTTACCTTTATGACTGGGCCTCAGTCTCCTCTTCTGTGAAATGGGATTAGTGGACCTCAGAGAAATTCTTCCTGATAAGATTCTAGGTGGGATGCTAGGAGCTGTACCTCAGGGCTCTTGGCCCAGGAACCAAAGAGGATTTAGCTGATGAGTGAACAGCAGGCCAAGTCAGGCCATCGGAGGGGTTAGGTTCTAGTCAAGAGATGCTCTTTAGAGTTGTATTTCCTGACACCAAAAGAGTTCATGGTCTTGGCCTTCTGGAGAGATACCTAGCAACATGGAGTGTCTTTGCTCACTGGATTTTTATTAAACACTGCAAATAGAAAGGTATGGGTAGACCTTGCACCAGCTGCAGCCAAAGAGTGGACTTACTCACTGGCTTAGTTAGCACCAGTCTCCTCCCCAGGTGCTCTTGGCAAAGCCCAGTCCCCAAAGGAGCAGGAGGTATTTCAAGATGAGGGCCAGATCAGGCACTGAATAAAAAGGCCAATGGCTGGCAAGAGGTCAGGATGTGTCAGCTCCACTGGGACCCTGGGGGCTGCAGTGACCGTCTGCTTGTTCTGTGCTTTGTTTTCGGTTTCCCCGTGCAGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGGTATGTCCCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAGGAGATGAGTAGGCATGTGGAGCATTGCCTTTCTAAGGTAGAGGGGCCATCACCACCCACCTTCCTTCCCCGCTCCCTTCCCCCGACACTAGCTGCTGACTGCCCCTGAATCTGTGGGCTCTTGGGGTCTCCATGTGGTCTCAGCAGCTTCTTCCCTTCTGACCACTGCTCTCTCCTTTTGCTTTCACTCTCACTCATTCCCTCCTTGGGCTCCAGCGGAAAACTATTGGGAAGAGGCCCAGGTCTTTGACCTCTAAATTGGTTTGCTTCAAAGGAGCCCTAGAGCTGAGGGCCCACTTGGCACACCACAGCTGGGGCTAGAGCTGTGCCTTCGTTGCAGACTGTGGGGAGCAGGTGGGGATGGCCTGGGCCCAGCATGATCCTGCTCTGCTCTTCACAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCGGATACAGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGTACAAGCAGCTGACACGTAGACATTGGCACTCTGGTGCCAGGCCTCTGCTGGGTATCCATCTGCTGGAAGCCAAGAGGCCGAGGCTGGTGGCTGGTCATCCATCCGTTCCACCACGTGGGGACTGCTGCTGGTGGGGCTCCTTTGTGACCGTGCTGCCTGCCTGTGATGTGCATATTAAAATGGATGTATTTGGGTGGGGAAATGGAATTGTGAGGCTGCAAGCTAGGAGTGACGAAGGGGGGCTCTCAGCTTCGGGTGATGCATTGAAGGTGACAGCCAAGCCGCGTTAGCACCTGCATAAAATATTAAAGGGACGGTTATGCATTTATCACTCCATCCCTCTTAAGGCTGATAAATGAGAATCCAGCAACCTGCTGTACACCTCCAGCACTGGGGGCCCTGAGGGCTTCCAGGCAAACACATTGGATTTTCCTCCTCCTCCTCTTCAGCCCTATGTCAGGGAAATCAGTTACAGAGGAGAGTGAGTTATGGCAAAATTTGACCTCCCATGAGCTTCATTGGTGAATCTAATTTTAGCTCTGATCCCATCCCTTCTCCCTGGGCGCCCTCTGCCCTGAAGCAAGAGGGGCCTGGGCCCAGCTGCTCCCTCCTTCCCTTGGGCTCTCCCCAGTTGCTACAAAGGAGTGTGCAGGGCCCTGCCCATCTCCAGTGCCCTCCCAGCTCCTTGGAAGAGCAAGGCTTGACACCCCCCACCAGGTCAGACAGCAGAATTGGTTGGGTGCCCAGGGTTAGTGACTTGTTAAACTCCCCAGCCTTGGGCAGGGGAAAAGGGGAGCTGTCTGCCTCTTGGCCTCCAGCTCTTCTCTCTTTCTGTGCACAAGCACAGCTGGTACTGCAGCTTGTGGTCATTAAGTGAGCCAATCTGCTTCCCGTCTGCCTCTCTCTCTGGGCAACACCTTTGGGAATACTGCTGTGTATGGTCCCTGGGGAATCTCACAGCAGCTGGGAAGAAGTTCTCTGCCTTCGTGGGGCCGTGCTACCTGGGCAGATGCTGAGGAGTGGTCTCTGCAGGGCCGTCCAGTGCAGACTGGTTCCACGAAGGGGCTAAGAGCCCAGATGAGACATTATGCCTCTGGGCGTCTCTCACATTACCCAGGTGTTTGGGGGCAAGCCAAAACATAAATCAGGAAGGTTAGTCAGACCAAACAGTCTCCCTGAGCCGGAGCTGGAGAGTGTTAGTTTGCCATTTCACTCATCCCGTACTGGAGCCTTCGAGTATCTGAGGCCCTAGAAGAGTGAGCAGCAGGGCTGACGACTGTCCCATGAGTTGGACACATGGGTGTCCGATGGCAGCCACACAGGGTCAGTTTCAACGTGCTGCTCTGGTTAGCTCTGTTGGCAGCTGCAACTGCTCACATCCTCCATTGCTGTGGCACCTTCTTAGGTTCCTTGGCACAGACCTGGACCTGATGGCTTCTGGGCACCAGACAGGGCTTATGGAGGATAAAGCTGCAAAGGGCCTGCTGATTTGACAAGAGTATTTCCCCTGTGCCGGGATGCACTTGCACAGCAGTGTGAGGGGCTCTTAGGCCCCGGGCGGGTATCCGTTTTCCCTGAGTGTTTACACTGTGAGGTTGTTCCTTTCAAGAATTCCTGAGGGGAGTTCAAAGGGGGCTTTTCTTTGAGCGATTTGGAGAGCGAGAATGAGAGTGAGACTTGAAGAGGGAACAGGGGCCGGAGGTGCCTTTATCTGCAGAGAATTGCTCCAGCTTTCCTGATAGAAGCTGCTGCCGCCTCTTAAACAGCTTAGTGCAGTCAAAAGACAGGCAGACTTGAAAGGCTGTTTTACAGCGAGATCAGCGGGGGCCACGAGGCAGAGAGCGGGGCGCAGTGGAGCGGAGGAGGCTGAGGCTCCTCAGTGGGGGGGCTATCAAAGGGAGGCCCTGGCTGATCCCTACTGCCTCTGCCCCCAAAACCCTGTCTGCAAAAGCTGGCCATCTGTCAGCCTACCCTCCCTGGCCAGGACTGATAGGCCCTAACTCTTGGGGGGTT 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Task1_train_831 | The gene EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | AGGTTATGTATCCCTTATCTGAAATACTTGGGACCAGAAGTGTTTTATTTTTTATTTATTTATTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTACACCATGTTGGCCAGGCTAATCTCGAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCGGGCCAGAAGTGTTTTAGATTTTGGATTTTTTAAAATTTTTTTGAATATTTGCATTATACTTACCGTTTCAGCATCCCTAACCCAAAAATCTGAACTCTCAAATGTTCCAGTGAGAATTTCCTTTGAGTGTCAAGTTGGTGCTCAAAAGTTTCGGATTTTGGAGCATTTGATTTTGGGTTTTTGGATTAGGGATATTCAACTTGTACAACTTCTTCATTTTCCCAGAGTTAATAACAGTCTTGTTTTTGTTAAATAGTGTTGTTTTTTCTATGTTATCCCCGATTCAACTTCAAACTTTTAGCCAGTTGCCTAAATCGACTTTCAAATGTTTGTATGTATCTGGTATTTTATCAGTTGCATCTTGCTGAATAAATCTTTCCTGGATTCTTTGGTTTTGTTCCAGTTTGGATTAACTAATCCCTTTATGCCCCATTTAGAGCTGTCATTCTTATCTCTGTTCACTGTTATCCCATGGATTCTTTTTGCCCTTTTTCTGAGTTGAATCTCTTGTTTCTGATCTTTCTCTGTTTGGTTTATTTTCCATTTTAGAGGAATAAATTTCCTAGTAAAGTTTTTGAGACTTTTGATATCTGAAAATGTTTTTATTCTATTGCCCTCTTGATTAGCACTTTGCCTGGGTATACAATTTTAGGTTAAAATTAACCTTCCTTCAGAATTTTGAAGGCATTTTTCCATTATCTTTGCCTCAAGTGGGTACAGGGGGAAACATACCCTTCCTCCACAGTGACTGAGTTCATGAGAAGGCAATTGGTAATAGTCACTCTATCTTTTATGAGACAGGATGAGCCAATGACTGAGCGCTTAATGGATGACTTCTCTCCAATCTGTGTCTCTGGCCCAATGAGGCTGTCAACTCCAACCTGTAAAAGGCAAAATATAAAACTCTGTCCACCCATCTCAACCAACTGCAAACCACCCTCCAGATCCCTCAAGCTGGGATCTAATGGGATCTTTCCATAGAGACACTTCAGCAAGAGGGACCATGATCAGTATTTCTCAGGGCCACAAGGTCATACAACACCTCTGAGACCAACTCAAACCTATTTGAAGCATGGGCCCTCCTCTCTTGCCAAGAAAACAAAATAAAACAACAGACACATATACACACTCATGCACTTGTGTATACAGATGTGCTCTCTTAAAGAGTGTGCTCAAATCAGAGTTAGAAGGGGGACAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAGAAAAAGAAAATTGGGACTGACTCCTGAAGAAAACTTGGCTCAGGAATCTGTAGGACCCATACCAGATAAAACCTCAGGTGAGCCTCTACCTGGATTGGTTACAGATCCAAGGGAGTCCCAAGCCAGAGAGCTTATGAGAATCATAGGTAGTCCCACATTTACCCATGACTAGAGTCTTTCAGGCTGAGATTGAGAGCTCCTGTGTCTGAGTCCCAACACTATAATGGACCCTTCCTTACAAGGTCATTACTTGCCCAGGCAGTCTTGTTGAGTGAGATTTTATTCTCAGAACCCACTGTGATTTCCCTGGGGCTGATGAGGTTCAGGACTTAAAGGCCTCAATCCGGCTTCTCAAAAACAAGTCTCGATGCTCCCAAAGAACATCTCATGCCCGTCCTGGCCACACTAGCACTTACCAGGTGTTTGCTGACAATCTGGGCTGACGAATGGACTGGTGGTTCTTCTGGACAGAGAGCAGACAGCAATTTGGGCACCTTAAGGACAGAGATTTGGTCACTAAAGATCAGAAAACACCTTAGGTAGCTCTCCCTCTCCCTCTCCCTCTACCTCTCCCACTCCCCCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTGATGCCGAGCCAAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGACTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGGAGACGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTAGCTACAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGAGCTGAGATTGCAGCCTCTGCCCGGCCGCCACACCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCATCCCATCTAGGAGGTGAGGAGCACCTCTTCCCCGCTGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATAGTCTGGGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCTGGCCGCGACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCCTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCTGTGTCTGTGTAGAGAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGCGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTGATCTTAAGTACCCAGGGACACAAACGCTGCGGAAGGCCACAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACATTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCTTAGGTAGAACCCAGTGCTCAATCAGAGATACAGGGAGTTCTCAGCCATAGCTTCCTGTCTGAGTGAGGGGGAGCAGGAGGCTGCTGCATTCCCCCTAGGACCAAGATTATTTATGCAGCAGCTTCTAGATGGCCTTATTGTCAGTCTCTTAGCTTTGAATGCTCCTCCTTGAAAGTAATGCCATGTCCCTTGGCTGGGAGGCACTGAGACCAGTCTTTGAGATACCCACATACCACCTCTTGGGAAAGGAGGCCTGATCAGGTCAAGGAACACCCCGCATCCTGATCATAAGCATCCTGGGTTCCTGGTCACCTCCTGGACCACTGTGACCACGCATGAGGTGAGGATGAGATCCATTTTAGACAAATTCGAAATCAAGGACAGACCCTGAGAAGGCATCTATCCCCCAGCCAAAAGAAAACATGAAGGGGAAGTTCACACTATTCCCTCTCCA 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AGGTTATGTATCCCTTATCTGAAATACTTGGGACCAGAAGTGTTTTATTTTTTATTTATTTATTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTACACCATGTTGGCCAGGCTAATCTCGAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCGGGCCAGAAGTGTTTTAGATTTTGGATTTTTTAAAATTTTTTTGAATATTTGCATTATACTTACCGTTTCAGCATCCCTAACCCAAAAATCTGAACTCTCAAATGTTCCAGTGAGAATTTCCTTTGAGTGTCAAGTTGGTGCTCAAAAGTTTCGGATTTTGGAGCATTTGATTTTGGGTTTTTGGATTAGGGATATTCAACTTGTACAACTTCTTCATTTTCCCAGAGTTAATAACAGTCTTGTTTTTGTTAAATAGTGTTGTTTTTTCTATGTTATCCCCGATTCAACTTCAAACTTTTAGCCAGTTGCCTAAATCGACTTTCAAATGTTTGTATGTATCTGGTATTTTATCAGTTGCATCTTGCTGAATAAATCTTTCCTGGATTCTTTGGTTTTGTTCCAGTTTGGATTAACTAATCCCTTTATGCCCCATTTAGAGCTGTCATTCTTATCTCTGTTCACTGTTATCCCATGGATTCTTTTTGCCCTTTTTCTGAGTTGAATCTCTTGTTTCTGATCTTTCTCTGTTTGGTTTATTTTCCATTTTAGAGGAATAAATTTCCTAGTAAAGTTTTTGAGACTTTTGATATCTGAAAATGTTTTTATTCTATTGCCCTCTTGATTAGCACTTTGCCTGGGTATACAATTTTAGGTTAAAATTAACCTTCCTTCAGAATTTTGAAGGCATTTTTCCATTATCTTTGCCTCAAGTGGGTACAGGGGGAAACATACCCTTCCTCCACAGTGACTGAGTTCATGAGAAGGCAATTGGTAATAGTCACTCTATCTTTTATGAGACAGGATGAGCCAATGACTGAGCGCTTAATGGATGACTTCTCTCCAATCTGTGTCTCTGGCCCAATGAGGCTGTCAACTCCAACCTGTAAAAGGCAAAATATAAAACTCTGTCCACCCATCTCAACCAACTGCAAACCACCCTCCAGATCCCTCAAGCTGGGATCTAATGGGATCTTTCCATAGAGACACTTCAGCAAGAGGGACCATGATCAGTATTTCTCAGGGCCACAAGGTCATACAACACCTCTGAGACCAACTCAAACCTATTTGAAGCATGGGCCCTCCTCTCTTGCCAAGAAAACAAAATAAAACAACAGACACATATACACACTCATGCACTTGTGTATACAGATGTGCTCTCTTAAAGAGTGTGCTCAAATCAGAGTTAGAAGGGGGACAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAGAAAAAGAAAATTGGGACTGACTCCTGAAGAAAACTTGGCTCAGGAATCTGTAGGACCCATACCAGATAAAACCTCAGGTGAGCCTCTACCTGGATTGGTTACAGATCCAAGGGAGTCCCAAGCCAGAGAGCTTATGAGAATCATAGGTAGTCCCACATTTACCCATGACTAGAGTCTTTCAGGCTGAGATTGAGAGCTCCTGTGTCTGAGTCCCAACACTATAATGGACCCTTCCTTACAAGGTCATTACTTGCCCAGGCAGTCTTGTTGAGTGAGATTTTATTCTCAGAACCCACTGTGATTTCCCTGGGGCTGATGAGGTTCAGGACTTAAAGGCCTCAATCCGGCTTCTCAAAAACAAGTCTCGATGCTCCCAAAGAACATCTCATGCCCGTCCTGGCCACACTAGCACTTACCAGGTGTTTGCTGACAGTCTGGGCTGACGAATGGACTGGTGGTTCTTCTGGACAGAGAGCAGACAGCAATTTGGGCACCTTAAGGACAGAGATTTGGTCACTAAAGATCAGAAAACACCTTAGGTAGCTCTCCCTCTCCCTCTCCCTCTACCTCTCCCACTCCCCCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTGATGCCGAGCCAAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGACTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGGAGACGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTAGCTACAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGAGCTGAGATTGCAGCCTCTGCCCGGCCGCCACACCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCATCCCATCTAGGAGGTGAGGAGCACCTCTTCCCCGCTGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATAGTCTGGGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCTGGCCGCGACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCCTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCTGTGTCTGTGTAGAGAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGCGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTGATCTTAAGTACCCAGGGACACAAACGCTGCGGAAGGCCACAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACATTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCTTAGGTAGAACCCAGTGCTCAATCAGAGATACAGGGAGTTCTCAGCCATAGCTTCCTGTCTGAGTGAGGGGGAGCAGGAGGCTGCTGCATTCCCCCTAGGACCAAGATTATTTATGCAGCAGCTTCTAGATGGCCTTATTGTCAGTCTCTTAGCTTTGAATGCTCCTCCTTGAAAGTAATGCCATGTCCCTTGGCTGGGAGGCACTGAGACCAGTCTTTGAGATACCCACATACCACCTCTTGGGAAAGGAGGCCTGATCAGGTCAAGGAACACCCCGCATCCTGATCATAAGCATCCTGGGTTCCTGGTCACCTCCTGGACCACTGTGACCACGCATGAGGTGAGGATGAGATCCATTTTAGACAAATTCGAAATCAAGGACAGACCCTGAGAAGGCATCTATCCCCCAGCCAAAAGAAAACATGAAGGGGAAGTTCACACTATTCCCTCTCCA 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Task1_train_832 | This variant affects the gene EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Vanishing white matter disease | CTCCCTTGACGTGCCAGGTCTTGCTCAACCTTGGGAATGACAGGGATTCTTAACAAGTTACTATGTACCTAATGAAGAAACAGACAAGTGGCTCAGTCTGTTTCTAGGACAAGAGCCCCATGATTTTCTAACTCATGCTCTCACCTGTCTGTTTGCTTCCATGTAGAGTCCCAGTGTGCTCACTCGAGAGCAGAGCCCCTCTTTCATGATGTGGACATAGCAGCGCACCTGTGATCTGGACAAGTCTTCCCACCTGTCTCCTCGACAGGCATTCCAGCAGGCATCATAGGGAGCCAGGTTCAGTGTATTGGCTTCTTTTATAAAACTGTAGATATCTTCAGAACAAACACCCAACCAAGGAAATAAATGAGAGAGAGATAACAGAACAGATACAGACTCAGTCAAGTTGTTTTTTTGTTTATTTAAGAGACGAGGTCTTGCTATGTTGCCTAGGCTGGTCTCAAACTCCCAGACTCAAGGGATCCTCCCACCTCAGCTTCCTGAGCAGCTGGGACTACAGGTGTGCACCACCATGCTTGGCTCTAAGTTTTAAAAGAGATTACAGCTCACACTTCTTCCTTTGAAACTCACCCACAAAACATGAACCCTGAGGAAATCCCACTAAAATCTGTAAGAGAAAGTCAAACTAAAAGAGGAAATGTACTTCCCTAAAATATCATATGATATAAAAATGCTTAATACGAGGTCCTAAAAGCATGTGACCGGTAATCAAGACCACTAGGGAAAATAAAACAGATGACCCTTGTAAATCATGAAATAACACAAGCCAGCATCCAGGCTTTAGTGGCCAGCCAGGTTGACTTTGTGCTGCTAGTCTCTATTACCATATCTGGTAGCTGTGCTATGACAGAAAGTACAGAACTTGGAGCCCAGAGTACCAGGGCTCTAGTTTTTCAGCTCTTACAACGATCCTTTGAGATCTTTTACTTTCTCATAAAAAAACTGGGGCTCAGAGGACTGAGTAACCTGCCTCAAGACACAATGCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGATACCATCCTGGCTAACACAGAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGTGTGCCTGTAGTCCTAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAATAAAAAAAAAAAAAGACACAATGCTAGTAAGAGGCAGTCAGATTTCAAATCCAGAACTGTCTGATGCCCAGTTCTACAGTCCTAATCATCATGCTGTACTGTCAGTGTATTCATTTGATAAATACTTTTTCAGAATATCTACTATGAGTCCACGACTGGGCCGGGGATTAGGGATATGACAGCAAACAAGACAGATCCGATCTTCAGATCCTGGCACGGAGACACCTGGGTTGGCCTGTGGTTGGACTGCAATTGTACATTCCTTCACTTTCCTTCCCTTGATAAAAGAGGTTGAGTTTAATCAGGAACGGGGCTGCCTAGAGCCTAGAGAACAGGGGAACTAAGAAGTGGCAGGTGGAGTTTAAAGGCAAAATGGTCTAGTGAGGAACACAGCCAAACCAGAGCTATGAATCAGAGAATGGGGCTGGAGGCATGATTAGCCTGTTGCCGAGAGCACAGTGGCAGAATCTGCCTGAGCAAGCTTACCCAGAGCTCAGTGGGTTGGCAAGCCTGTCTTGCCTCGTAGGCTAGAAATAGTCTGCTGCCTTGAGTCAGGCATCTTGGGCTGGGCTAAGCTGCCCAACCACTCTTTCCAAAGGTGCTGCTACCCTTGCCCCTCTTACTGAACCAACCCAAGAACTGACCTAAGGACTTCAGCTCCTTTTTCTTTAGATCCTCCTCTTTTTCTTCTTGTCCCTGTTGTGAGGAAGCTGAGGAAAACTGTTTTCTCACTAAATATGGAATCAGTTCACTCCGGATAGAAGTTATTGACCTAGAAAGAAAGAATGGCCAAATATGAGAAACCTGACTGTCTGGAACATACCCGGATCAAAAGCTCTGTGCATACAAGGAAAAGCCAAATCCTTTCCTGTCATGGCACCTTGGGACTGTCAGAGATCAAATGTGGCATTGACTTGGCAGTTCGGAGAAGCAGAGTGCTTCCTGGTGGGTACTGAGACAGGATGTTGGGTCTAAGTGATCAGGAATCTGTACTAGGGGAAGAAGGGACCTGATCTTTAGTTCAGTGTGTGTTTTTTATTTATGTTTTTATTTATACTTAGCAATGGAAAGCAGAGAGATGAGAAACTAGCACATGTTTTTCAGTGTTCTCTCACACTGTGACCTTATTAGAATTTTATATTGCTAATTAATTTATGTAGCATTTACCAAGCATATGCGAGTTACTGTGCTAGGCCTTGGAAATACATCATTTCTGACTTCAAGGAATTCATAATCCAATGGACAGTAGCCTGTATGAGTTTAAGAGGAAAAGCAGAAGGTTAAGCTAATCAGGTAGGCAAGGGGGCCAGATCACGAAAGCTTTTTGTGGTGAAACCACCTTTGCAAAAATAACAGTGACAAAATTATGACAGTGAAAGAAATCTGACCTAATCAACTCCATCTTGCTGTTAACCTCCAAATTGCTCTTGCTCATTCCTGGACATAGGCTGAGCTAACTTTGGGAGAAAACTTTTTTTTTTTTTTTTCTGAGACAGGGTCTCACTCTGTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACCTTTGCCTCCCAGGTTCAAGTGATTCTCCCACCTCAGCCTCCTGAGTGGCTGGAAAGCTGGGATTACAGGTGTGAGAGCCACATGCCTGGCTAATTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTTGTGCTCCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACAATGCCTGGCTGTTTTTGTATTTTTTGGTAGGGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCGCCTGCTGCAGCCTCTTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGACTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGTAGCGGTGCGATCTTGGCTTATCGCAACCTCCACCTCCCAGTTCAAGTGATTCTCCTGCCTCAGCCACCCAAGTAGCTGGGATTACAGGCGCCGGCCACCATGCCTGGCTAATTTTTGTATTTTGAGTAGAGATGGTGTCTCGTCATGTTGACCATCCTGAGGTCAGGAGTCTTGAACTCCTGACCTCAGGTGATCCGCTTGCTCCGGCCTCTCAACATGCTAGGATTACAGGTGTGAGCCACCATGCCTAGCCAGAAATTTATTACAGTTTATAGTTTAAATGATAATAGCCCTTCTCAAAATGAAACTGCCTTTATAAAACTAATAAAAGCGTACAAATTTAGGATTACAAGAGGGGCCTGAATTCTCATGATTACCAATCATTTTTCCAAAGGTCACAAGATTTGCAACTTCCCCAGTTACTCCTGTAAGTAACATCACTATTGTTGAACCTAAGATTGGCTTTTTAAGATGTCTTTTCTGACTTTTGCATTTCTGATGACTGGATGACTCCACTGGGACCAGTGACCCCTCTGTGGCCCCCATCCAAAACTGGGCTCAGCAGAGGACTGGTTTCCACACCCCTATGATTGCATCCCCAACCAATCAGCAGCACTCATTCCCTAGACCCCTGCCCACCAAACCATCCTTGAAAAACCCTAGCCTCAGAATTCTGGGGGAGGCTGATTTGAGTAATAATAAAATTCTGGTTTCCCGTTTAGCTGCCTCTATGTGTATTAAACTCTTTATTGCAATTCTCCCATCTTGATAAATCGTCTCTATCT 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CTCCCTTGACGTGCCAGGTCTTGCTCAACCTTGGGAATGACAGGGATTCTTAACAAGTTACTATGTACCTAATGAAGAAACAGACAAGTGGCTCAGTCTGTTTCTAGGACAAGAGCCCCATGATTTTCTAACTCATGCTCTCACCTGTCTGTTTGCTTCCATGTAGAGTCCCAGTGTGCTCACTCGAGAGCAGAGCCCCTCTTTCATGATGTGGACATAGCAGCGCACCTGTGATCTGGACAAGTCTTCCCACCTGTCTCCTCGACAGGCATTCCAGCAGGCATCATAGGGAGCCAGGTTCAGTGTATTGGCTTCTTTTATAAAACTGTAGATATCTTCAGAACAAACACCCAACCAAGGAAATAAATGAGAGAGAGATAACAGAACAGATACAGACTCAGTCAAGTTGTTTTTTTGTTTATTTAAGAGACGAGGTCTTGCTATGTTGCCTAGGCTGGTCTCAAACTCCCAGACTCAAGGGATCCTCCCACCTCAGCTTCCTGAGCAGCTGGGACTACAGGTGTGCACCACCATGCTTGGCTCTAAGTTTTAAAAGAGATTACAGCTCACACTTCTTCCTTTGAAACTCACCCACAAAACATGAACCCTGAGGAAATCCCACTAAAATCTGTAAGAGAAAGTCAAACTAAAAGAGGAAATGTACTTCCCTAAAATATCATATGATATAAAAATGCTTAATACGAGGTCCTAAAAGCATGTGACCGGTAATCAAGACCACTAGGGAAAATAAAACAGATGACCCTTGTAAATCATGAAATAACACAAGCCAGCATCCAGGCTTTAGTGGCCAGCCAGGTTGACTTTGTGCTGCTAGTCTCTATTACCATATCTGGTAGCTGTGCTATGACAGAAAGTACAGAACTTGGAGCCCAGAGTACCAGGGCTCTAGTTTTTCAGCTCTTACAACGATCCTTTGAGATCTTTTACTTTCTCATAAAAAAACTGGGGCTCAGAGGACTGAGTAACCTGCCTCAAGACACAATGCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGATACCATCCTGGCTAACACAGAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGTGTGCCTGTAGTCCTAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAATAAAAAAAAAAAAAGACACAATGCTAGTAAGAGGCAGTCAGATTTCAAATCCAGAACTGTCTGATGCCCAGTTCTACAGTCCTAATCATCATGCTGTACTGTCAGTGTATTCATTTGATAAATACTTTTTCAGAATATCTACTATGAGTCCACGACTGGGCCGGGGATTAGGGATATGACAGCAAACAAGACAGATCCGATCTTCAGATCCTGGCACGGAGACACCTGGGTTGGCCTGTGGTTGGACTGCAATTGTACATTCCTTCACTTTCCTTCCCTTGATAAAAGAGGTTGAGTTTAATCAGGAACGGGGCTGCCTAGAGCCTAGAGAACAGGGGAACTAAGAAGTGGCAGGTGGAGTTTAAAGGCAAAATGGTCTAGTGAGGAACACAGCCAAACCAGAGCTATGAATCAGAGAATGGGGCTGGAGGCATGATTAGCCTGTTGCCGAGAGCACAGTGGCAGAATCTGCCTGAGCAAGCTTACCCAGAGCTCAGTGGGTTGGCAAGCCTGTCTTGCCTCGTAGGCTAGAAATAGTCTGCTGCCTTGAGTCAGGCATCTTGGGCTGGGCTAAGCTGCCCAACCACTCTTTCCAAAGGTGCTGCTACCCTTGCCCCTCTTACTGAACCAACCCAAGAACTGACCTAAGGACTTCAGCTCCTTTTTCTTTAGATCCTCCTCTTTTTCTTCTTGTCCCTGTTGTGAGGAAGCTGAGGAAAACTGTTTTCTCACTAAATATGGAATCAGTTCACTCGGGATAGAAGTTATTGACCTAGAAAGAAAGAATGGCCAAATATGAGAAACCTGACTGTCTGGAACATACCCGGATCAAAAGCTCTGTGCATACAAGGAAAAGCCAAATCCTTTCCTGTCATGGCACCTTGGGACTGTCAGAGATCAAATGTGGCATTGACTTGGCAGTTCGGAGAAGCAGAGTGCTTCCTGGTGGGTACTGAGACAGGATGTTGGGTCTAAGTGATCAGGAATCTGTACTAGGGGAAGAAGGGACCTGATCTTTAGTTCAGTGTGTGTTTTTTATTTATGTTTTTATTTATACTTAGCAATGGAAAGCAGAGAGATGAGAAACTAGCACATGTTTTTCAGTGTTCTCTCACACTGTGACCTTATTAGAATTTTATATTGCTAATTAATTTATGTAGCATTTACCAAGCATATGCGAGTTACTGTGCTAGGCCTTGGAAATACATCATTTCTGACTTCAAGGAATTCATAATCCAATGGACAGTAGCCTGTATGAGTTTAAGAGGAAAAGCAGAAGGTTAAGCTAATCAGGTAGGCAAGGGGGCCAGATCACGAAAGCTTTTTGTGGTGAAACCACCTTTGCAAAAATAACAGTGACAAAATTATGACAGTGAAAGAAATCTGACCTAATCAACTCCATCTTGCTGTTAACCTCCAAATTGCTCTTGCTCATTCCTGGACATAGGCTGAGCTAACTTTGGGAGAAAACTTTTTTTTTTTTTTTTCTGAGACAGGGTCTCACTCTGTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACCTTTGCCTCCCAGGTTCAAGTGATTCTCCCACCTCAGCCTCCTGAGTGGCTGGAAAGCTGGGATTACAGGTGTGAGAGCCACATGCCTGGCTAATTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTTGTGCTCCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACAATGCCTGGCTGTTTTTGTATTTTTTGGTAGGGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCGCCTGCTGCAGCCTCTTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGACTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGTAGCGGTGCGATCTTGGCTTATCGCAACCTCCACCTCCCAGTTCAAGTGATTCTCCTGCCTCAGCCACCCAAGTAGCTGGGATTACAGGCGCCGGCCACCATGCCTGGCTAATTTTTGTATTTTGAGTAGAGATGGTGTCTCGTCATGTTGACCATCCTGAGGTCAGGAGTCTTGAACTCCTGACCTCAGGTGATCCGCTTGCTCCGGCCTCTCAACATGCTAGGATTACAGGTGTGAGCCACCATGCCTAGCCAGAAATTTATTACAGTTTATAGTTTAAATGATAATAGCCCTTCTCAAAATGAAACTGCCTTTATAAAACTAATAAAAGCGTACAAATTTAGGATTACAAGAGGGGCCTGAATTCTCATGATTACCAATCATTTTTCCAAAGGTCACAAGATTTGCAACTTCCCCAGTTACTCCTGTAAGTAACATCACTATTGTTGAACCTAAGATTGGCTTTTTAAGATGTCTTTTCTGACTTTTGCATTTCTGATGACTGGATGACTCCACTGGGACCAGTGACCCCTCTGTGGCCCCCATCCAAAACTGGGCTCAGCAGAGGACTGGTTTCCACACCCCTATGATTGCATCCCCAACCAATCAGCAGCACTCATTCCCTAGACCCCTGCCCACCAAACCATCCTTGAAAAACCCTAGCCTCAGAATTCTGGGGGAGGCTGATTTGAGTAATAATAAAATTCTGGTTTCCCGTTTAGCTGCCTCTATGTGTATTAAACTCTTTATTGCAATTCTCCCATCTTGATAAATCGTCTCTATCT 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Task1_train_833 | Assess the clinical impact of this variant on gene EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Leukoencephalopathy with vanishing white matter 3 | CTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGCCCTGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCTTGTCTCTATAAAAAAACTCCAAAAAACCAGAGGTTTAGGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGGGCCAAGATCACCCCACTGCACTCCAGCCTGGGTAACAGAGTGAGTCTGTCTCAAAACAAACAAACAAACAAAAAAAAACCTCAGGTCTATATGAATGGTGCCCACACTTTAATATATTATATGCCACTTCTCCTTGATATGAAGAATTCAGAAGAACATTAATCAAAAATACAAATGGGAAGAAATATAAAAAACACTCTGGGAAGCCAAGGCAGGCAGATAACTTCAGCCCAGGAACTCAAGACCAGCCTGGGTAACGTGGCGAAACCCTGTCTCTGCCAAAAAAAAAAAAAAAAAAAAAAGGAGGAAAGAAAAATTATCCAGGTGTGGTGGCATGCATGTAGTTGCAGCTACTCAGGAGGCTAAGATGGGAGGATCGTTTGATCCCAGGAGGCAGAGGTTGCAATGAGCTGAAATCATGCCACTGTACTCCAGCCTTGGACGACAGAGCAAGACTCTGTCTCTAAAAAACAAAAAAACCAAAGGGGGCCATGCGTAGTGGCTCACACCTGTAATTCCAACACTTTGGAAGGCCGAGACAGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGACAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAATTAGCCGGGAGTGGTGGTACACGCCTGTAGTCCCAGGTACTCGGGAGACTGAAGCAGGAGAATTGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCAACATTTTAAATCTTCATTCAATACAAAGAGAGAGCTATTAAGCTACCACCCTTCCTATTGGAGGCAACTCTAATAATGGAATGAACACTGGATCACAAGACTGGGCCTCAGGCTTTGGCACCCTGATTTATTACATCTAAATATAGGACACCTCAAACTCAATGTGACCAAAGCTGAACTCATTATTTTAATGAAAATAAAATTCATTAAAACCTTTTCCTGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCCTGAGATCGAGACCATTCTAGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACTTAGCCGGGCATGGTGGAAAATGCCTGTAGTCCCAGCTACACAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGAGGTTGAACCCTGGCGGAGGTTGTAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGCGTGAGACTCTGTCTCAAAAAAAAAACACCTGTTCCTTGTCTCCTATTCCTTTTCCTACTTAATGGCATAACTATCTACCTAGCTACCCAAGCAAAAAGTAGAGAGGATCACTAGACTTTAAAGTTCTGGAAGTCAGGGCCTGAGCTGTCTTTTCAATTCTGTACCTCCGTGTTTAATATATAACCTGGTACTTACATCAAAACAAAATTTAAAACATATATATATTGAATATCAGATAATATAAATATTACCTGGTACATAATAGATTCTCAGTAAGTACTGACTATGAGGCATTTAAGAGTCTCAATCTGCTCTTTCTGATATCTTTACAGAGTTCGTCTTGGATCATTGTGGACATCAGCTCCATAACAACAACACTTAGTGCTATCCTCTCAACCTTTTTCACACAGCAATAGAGTACTCCTACATTCCTTAAAGAAGGCAGTCTTCAGCCAACGAGTTCTAGTCACCCTCTCTCATTCTCATAACGCTGACAAATCATGGGGATCAAATCTCCTAAAAGTTTTATGAGTTCACAGCTCACTTTGTCATAGCTCACCTTCAAATCCAACACGCTCAAGCAGGTTCAATGGGTACCAAATTAAAGGTTTGTTCCCAACTGGAAGCAGAGGTTTGGGAATGCTGGAAGTTAGGTCTGTCATCCGAGATCCTCCACCTACTGCCATCACTACTGCTTGAAATTCCATTTTTACAAACTGCAAGTACAGAAAAAACAATTAACAGAAAAAAAACAATGTAACAAAAATCAAAGCACACATACTACTAGCCTATTTTTATTTAGGTTACTGATACCCACTATGTCAAATGCATAATTCCTAACTCTAGCAATCACAGTAAGAAAAGCTTAGCTGCAGATAAACATTATGTCTACCAATATGTATTCTCAGTTCTATCCTTGGTAAAAGTGGGAGGATAGGAATGCAGGGGCTTTGCCCTTGAGTTATTCACAATTAAGTGGAGAAGACAAATTCAGTAAATCACAATATATGTCATTAGTGCCACAGCAGAAAAATATCCAAGATACAGTGGGCATACAATAAAAGGAACACCTAGTTTTCATTGAAAACACAGAGAAGTTTTTATAGAAAGTGATGCTTGAGCTGACTCTGAAGAAGTAAGAGTTTACCAAGTGGACTTCTGATGTGTGAATTTTTATTCTTTGAAAATATTAGGCTGGGTGAGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGTGTGGATCACATGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAGACCCCATCTCTACCAAAAATACAAAAAATTAGCCAGGGGTGGTGGCTTGTGCCTATGGTTCCAGCTACTTGGGAAGCTGAAGTGGGAGGATCATTTGAGCCTGGGAGGCAGGTGTTGCAGTGAGCCGAGATTGAGATTGGACCACTGCACTCCAACCTGTGTGACAGAGTGAGATCCTGTCTCAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAGAAAATATTAAAAGATGCCTGACTAGAATTAACAGCAGAAACACAAGCATGTTAGGCTTCTGAAAAGTATGAAATGACTTAAGACTCCTCCAATAATTCAGCCATCGGCTCATCTTATTCCTCCAATTTTTAAAGATATCACTATAAACACAAACGTAGGCTTGTATCTGAACCTAGATTTACAGAACACAATTATAAAAACAAACCAAACTGTTAATTCCTTTTTTCAAACTCAAGGTAATAAACAAACCTATTTGACTTTGAAAAGAATCTCTTTACAGAAACTACCACAGAACAGAGGCACAGTAGAAGGTCATAAATCTTTATTTATGTATTTATTTTTGGAGATGGAATTTCACTCTTGTTGCCAGGCTGGAGTGCAATGCCGTGATCTCGGCTCACTGCAACCTCCACCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCATGGGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAGGTGATCCACCGGAGTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGTGCCCATCCTATTTATTTATTGTTTATTTAGAGACAGAGTCTTGCTCCATTGCCCAGTCTGGAAGTGCAGTGGTAAGATCATGGCTCACTGCAGCCTCAACCTCCTGCACTAAAGCAATCCTCCTGCCCCAACCTCTGGAGCAGCTGGGACTACAGGTGGGTACCACCATGCCTGGCTTTTTTTTTTTTTTTGAGACGGAGTTTCTCTCTTGTTGCCCAGGCTGAAGTGCAGTGGCACGATCTCAGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGAGCTGGGATTATAGGCATGCACCACCACGCCCAGCTGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCACATTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCACCTGGCCGCCTGGCTAATTCTTTTAATTAATTTTTTATAGAGATGGGGTTTCACTATGCTGCCCAGGCTGGTCT 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CTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGCCCTGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCTTGTCTCTATAAAAAAACTCCAAAAAACCAGAGGTTTAGGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGGGCCAAGATCACCCCACTGCACTCCAGCCTGGGTAACAGAGTGAGTCTGTCTCAAAACAAACAAACAAACAAAAAAAAACCTCAGGTCTATATGAATGGTGCCCACACTTTAATATATTATATGCCACTTCTCCTTGATATGAAGAATTCAGAAGAACATTAATCAAAAATACAAATGGGAAGAAATATAAAAAACACTCTGGGAAGCCAAGGCAGGCAGATAACTTCAGCCCAGGAACTCAAGACCAGCCTGGGTAACGTGGCGAAACCCTGTCTCTGCCAAAAAAAAAAAAAAAAAAAAAAGGAGGAAAGAAAAATTATCCAGGTGTGGTGGCATGCATGTAGTTGCAGCTACTCAGGAGGCTAAGATGGGAGGATCGTTTGATCCCAGGAGGCAGAGGTTGCAATGAGCTGAAATCATGCCACTGTACTCCAGCCTTGGACGACAGAGCAAGACTCTGTCTCTAAAAAACAAAAAAACCAAAGGGGGCCATGCGTAGTGGCTCACACCTGTAATTCCAACACTTTGGAAGGCCGAGACAGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGACAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAATTAGCCGGGAGTGGTGGTACACGCCTGTAGTCCCAGGTACTCGGGAGACTGAAGCAGGAGAATTGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCAACATTTTAAATCTTCATTCAATACAAAGAGAGAGCTATTAAGCTACCACCCTTCCTATTGGAGGCAACTCTAATAATGGAATGAACACTGGATCACAAGACTGGGCCTCAGGCTTTGGCACCCTGATTTATTACATCTAAATATAGGACACCTCAAACTCAATGTGACCAAAGCTGAACTCATTATTTTAATGAAAATAAAATTCATTAAAACCTTTTCCTGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCCTGAGATCGAGACCATTCTAGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACTTAGCCGGGCATGGTGGAAAATGCCTGTAGTCCCAGCTACACAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGAGGTTGAACCCTGGCGGAGGTTGTAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGCGTGAGACTCTGTCTCAAAAAAAAAACACCTGTTCCTTGTCTCCTATTCCTTTTCCTACTTAATGGCATAACTATCTACCTAGCTACCCAAGCAAAAAGTAGAGAGGATCACTAGACTTTAAAGTTCTGGAAGTCAGGGCCTGAGCTGTCTTTTCAATTCTGTACCTCCGTGTTTAATATATAACCTGGTACTTACATCAAAACAAAATTTAAAACATATATATATTGAATATCAGATAATATAAATATTACCTGGTACATAATAGATTCTCAGTAAGTACTGACTATGAGGCATTTAAGAGTCTCAATCTGCTCTTTCTGATATCTTTACAGAGTTCGTCTTGGATCATTGTGGACATCAGCTCCATAACAACAACACTTAGTGCTATCCTCTCAACCTTTTTCACACAGCAATAGAGTACTCCTACATTCCTTAAAGAAGGCAGTCTTCAGCCAACGAGTTCTAGTCACCCTCTCTCATTCTCATAACGCTGACAAATCATGGGGATCAAATCTCCTAAAAGTTTTATGAGTTCACAGCTCACTTTGTCATAGCTCACCTTCAAATCCAACACGCTCAAGCAGGTTCAATGGGTACCAAATTAAAGGTTTGTTCCCAACTGGAAGCTGAGGTTTGGGAATGCTGGAAGTTAGGTCTGTCATCCGAGATCCTCCACCTACTGCCATCACTACTGCTTGAAATTCCATTTTTACAAACTGCAAGTACAGAAAAAACAATTAACAGAAAAAAAACAATGTAACAAAAATCAAAGCACACATACTACTAGCCTATTTTTATTTAGGTTACTGATACCCACTATGTCAAATGCATAATTCCTAACTCTAGCAATCACAGTAAGAAAAGCTTAGCTGCAGATAAACATTATGTCTACCAATATGTATTCTCAGTTCTATCCTTGGTAAAAGTGGGAGGATAGGAATGCAGGGGCTTTGCCCTTGAGTTATTCACAATTAAGTGGAGAAGACAAATTCAGTAAATCACAATATATGTCATTAGTGCCACAGCAGAAAAATATCCAAGATACAGTGGGCATACAATAAAAGGAACACCTAGTTTTCATTGAAAACACAGAGAAGTTTTTATAGAAAGTGATGCTTGAGCTGACTCTGAAGAAGTAAGAGTTTACCAAGTGGACTTCTGATGTGTGAATTTTTATTCTTTGAAAATATTAGGCTGGGTGAGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGTGTGGATCACATGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAGACCCCATCTCTACCAAAAATACAAAAAATTAGCCAGGGGTGGTGGCTTGTGCCTATGGTTCCAGCTACTTGGGAAGCTGAAGTGGGAGGATCATTTGAGCCTGGGAGGCAGGTGTTGCAGTGAGCCGAGATTGAGATTGGACCACTGCACTCCAACCTGTGTGACAGAGTGAGATCCTGTCTCAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAGAAAATATTAAAAGATGCCTGACTAGAATTAACAGCAGAAACACAAGCATGTTAGGCTTCTGAAAAGTATGAAATGACTTAAGACTCCTCCAATAATTCAGCCATCGGCTCATCTTATTCCTCCAATTTTTAAAGATATCACTATAAACACAAACGTAGGCTTGTATCTGAACCTAGATTTACAGAACACAATTATAAAAACAAACCAAACTGTTAATTCCTTTTTTCAAACTCAAGGTAATAAACAAACCTATTTGACTTTGAAAAGAATCTCTTTACAGAAACTACCACAGAACAGAGGCACAGTAGAAGGTCATAAATCTTTATTTATGTATTTATTTTTGGAGATGGAATTTCACTCTTGTTGCCAGGCTGGAGTGCAATGCCGTGATCTCGGCTCACTGCAACCTCCACCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCATGGGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAGGTGATCCACCGGAGTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGTGCCCATCCTATTTATTTATTGTTTATTTAGAGACAGAGTCTTGCTCCATTGCCCAGTCTGGAAGTGCAGTGGTAAGATCATGGCTCACTGCAGCCTCAACCTCCTGCACTAAAGCAATCCTCCTGCCCCAACCTCTGGAGCAGCTGGGACTACAGGTGGGTACCACCATGCCTGGCTTTTTTTTTTTTTTTGAGACGGAGTTTCTCTCTTGTTGCCCAGGCTGAAGTGCAGTGGCACGATCTCAGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGAGCTGGGATTATAGGCATGCACCACCACGCCCAGCTGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCACATTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCACCTGGCCGCCTGGCTAATTCTTTTAATTAATTTTTTATAGAGATGGGGTTTCACTATGCTGCCCAGGCTGGTCT 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Task1_train_834 | With a mutation on Chromosome 1 in gene UROD (uroporphyrinogen decarboxylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | AGCGCTGCTGGCAGCGGCCGCCCGGCGCGGAGGCTCCGCGCTGCCTCTGCCAAGAAGCGCACGCGGCCCAGCAGCTGCCGGGGGGACTCCAGCACCGCGCCCGGGCCAGGACCCGCCATGGCGAAGTGGCGGAGGTGAGCACCTAGAGGCGACCCTGCCCGGGGAACAGCTGGCGCGACCGCGGACAGAGCTTCCCACCACGCCCTTCCCCGCCTTTGGCCAGCCTTTGCCGTATGTTCTGGACTAAGCGCACCCCAGCTCTCACTGTATTGGACTGTGTACTCCCACACTCAACCATATTACTTATCTCTGTGCCACCCTAACCCAGCCGACCAAACCCAAGATTGGTGATTGCTACCTGATCAATCTCCCTCTCTCCATTTCCTTGTGACTACCATTTTATCTCTACTGCTACTACCCTCATTCAAGTCACCATTCTAGCTAGCCTGGGTCATTGCCAACAGTCATTTTTCTGGTTCTTCGGCCTGCTGTTTTTCCTCCCACTCCCAGCGAATCTGCTGGACTCCCTATCCTATGGGTGGTGTGATTAAAGTGTTTGAGACAATGGCCCCTTCCCCTGCCACTGACAGGAGTCTTGAGTCATTAGGGTTGATTCTGTTTGTCACTCCTAATCCCAAGGACACTGGAGATCATTATTCATTTTAATGTGATTGCTGATTTCTGTTTCCCCAGTCTTGTAGCTCCTTAAAGGCTGGGGCTGTCTTGAGCAGAGCTAACCTCTGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAAC 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AGCGCTGCTGGCAGCGGCCGCCCGGCGCGGAGGCTCCGCGCTGCCTCTGCCAAGAAGCGCACGCGGCCCAGCAGCTGCCGGGGGGACTCCAGCACCGCGCCCGGGCCAGGACCCGCCATGGCGAAGTGGCGGAGGTGAGCACCTAGAGGCGACCCTGCCCGGGGAACAGCTGGCGCGACCGCGGACAGAGCTTCCCACCACGCCCTTCCCCGCCTTTGGCCAGCCTTTGCCGTATGTTCTGGACTAAGCGCACCCCAGCTCTCACTGTATTGGACTGTGTACTCCCACACTCAACCATATTACTTATCTCTGTGCCACCCTAACCCAGCCGACCAAACCCAAGATTGGTGATTGCTACCTGATCAATCTCCCTCTCTCCATTTCCTTGTGACTACCATTTTATCTCTACTGCTACTACCCTCATTCAAGTCACCATTCTAGCTAGCCTGGGTCATTGCCAACAGTCATTTTTCTGGTTCTTCGGCCTGCTGTTTTTCCTCCCACTCCCAGCGAATCTGCTGGACTCCCTATCCTATGGGTGGTGTGATTAAAGTGTTTGAGACAATGGCCCCTTCCCCTGCCACTGACAGGAGTCTTGAGTCATTAGGGTTGATTCTGTTTGTCACTCCTAATCCCAAGGACACTGGAGATCATTATTCATTTTAATGTGATTGCTGATTTCTGTTTCCCCAGTCTTGTAGCTCCTTAAAGGCTGGGGCTGTCTTGAGCAGAGCTAACCTCTGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCTTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAAC 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Task1_train_835 | This variant impacts the gene UROD (uroporphyrinogen decarboxylase) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | CGGAGGTGAGCACCTAGAGGCGACCCTGCCCGGGGAACAGCTGGCGCGACCGCGGACAGAGCTTCCCACCACGCCCTTCCCCGCCTTTGGCCAGCCTTTGCCGTATGTTCTGGACTAAGCGCACCCCAGCTCTCACTGTATTGGACTGTGTACTCCCACACTCAACCATATTACTTATCTCTGTGCCACCCTAACCCAGCCGACCAAACCCAAGATTGGTGATTGCTACCTGATCAATCTCCCTCTCTCCATTTCCTTGTGACTACCATTTTATCTCTACTGCTACTACCCTCATTCAAGTCACCATTCTAGCTAGCCTGGGTCATTGCCAACAGTCATTTTTCTGGTTCTTCGGCCTGCTGTTTTTCCTCCCACTCCCAGCGAATCTGCTGGACTCCCTATCCTATGGGTGGTGTGATTAAAGTGTTTGAGACAATGGCCCCTTCCCCTGCCACTGACAGGAGTCTTGAGTCATTAGGGTTGATTCTGTTTGTCACTCCTAATCCCAAGGACACTGGAGATCATTATTCATTTTAATGTGATTGCTGATTTCTGTTTCCCCAGTCTTGTAGCTCCTTAAAGGCTGGGGCTGTCTTGAGCAGAGCTAACCTCTGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAG 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CGGAGGTGAGCACCTAGAGGCGACCCTGCCCGGGGAACAGCTGGCGCGACCGCGGACAGAGCTTCCCACCACGCCCTTCCCCGCCTTTGGCCAGCCTTTGCCGTATGTTCTGGACTAAGCGCACCCCAGCTCTCACTGTATTGGACTGTGTACTCCCACACTCAACCATATTACTTATCTCTGTGCCACCCTAACCCAGCCGACCAAACCCAAGATTGGTGATTGCTACCTGATCAATCTCCCTCTCTCCATTTCCTTGTGACTACCATTTTATCTCTACTGCTACTACCCTCATTCAAGTCACCATTCTAGCTAGCCTGGGTCATTGCCAACAGTCATTTTTCTGGTTCTTCGGCCTGCTGTTTTTCCTCCCACTCCCAGCGAATCTGCTGGACTCCCTATCCTATGGGTGGTGTGATTAAAGTGTTTGAGACAATGGCCCCTTCCCCTGCCACTGACAGGAGTCTTGAGTCATTAGGGTTGATTCTGTTTGTCACTCCTAATCCCAAGGACACTGGAGATCATTATTCATTTTAATGTGATTGCTGATTTCTGTTTCCCCAGTCTTGTAGCTCCTTAAAGGCTGGGGCTGTCTTGAGCAGAGCTAACCTCTGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATTCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAG 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Task1_train_836 | The gene UROD (uroporphyrinogen decarboxylase) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCT | TGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACAGGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCT |
Task1_train_837 | Here is a mutation in UROD (uroporphyrinogen decarboxylase) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | ACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAG | ACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGCTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAG |
Task1_train_838 | A sequence alteration has been identified in UROD (uroporphyrinogen decarboxylase) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Familial porphyria cutanea tarda | ACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGA 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ACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCTTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGA 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Task1_train_839 | This variant lies on Chromosome 1 and affects the gene UROD (uroporphyrinogen decarboxylase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGA 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AGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGAGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGA 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Task1_train_840 | Chromosome 1 houses a mutation in gene UROD (uroporphyrinogen decarboxylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | AGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGA 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AGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGTGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGA 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Task1_train_841 | A mutation in UROD (uroporphyrinogen decarboxylase), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hepatoerythropoietic porphyria | GGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGAACATGATACACTATGGAGGTCAGCCAGGGCTA 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GGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCGGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGAACATGATACACTATGGAGGTCAGCCAGGGCTA 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Task1_train_842 | Consider a variant on Chromosome 1 in gene UROD (uroporphyrinogen decarboxylase). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGAACATGATACACTATGGAGGTCAGCCAGGGCTAAGACAGGACTGCCCACTAGGGCTAGAAATTAGGAAGGGAGAGGCTAAGTGCAGACCAGCCCTAGCCTCCAAGTCAGCGAGCAATGAGACTGTGACAAAAGCCGGCGAGGAAGCTTGAGGTAGAAAGGCAGGGGAAGAAAGC | GAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAAACTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGAACATGATACACTATGGAGGTCAGCCAGGGCTAAGACAGGACTGCCCACTAGGGCTAGAAATTAGGAAGGGAGAGGCTAAGTGCAGACCAGCCCTAGCCTCCAAGTCAGCGAGCAATGAGACTGTGACAAAAGCCGGCGAGGAAGCTTGAGGTAGAAAGGCAGGGGAAGAAAGC 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Task1_train_843 | A variant on Chromosome 1 in gene HPDL, LOC129930439 (4-hydroxyphenylpyruvate dioxygenase like| ATAC-STARR-seq lymphoblastoid active region 964) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACATCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGA 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TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACATCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATCGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGA 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Task1_train_844 | Located on Chromosome 1, this mutation impacts HPDL, LOC129930439 (4-hydroxyphenylpyruvate dioxygenase like| ATAC-STARR-seq lymphoblastoid active region 964). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACATCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGA 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TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACATCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATCGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGA 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Task1_train_845 | Here’s a variant in HPDL (4-hydroxyphenylpyruvate dioxygenase like) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Spastic paraplegia 83, autosomal recessive | CCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGA 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CCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGACGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGA 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Task1_train_846 | This alteration in HPDL (4-hydroxyphenylpyruvate dioxygenase like) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Spastic ataxia | CCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGA 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CCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGACGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGA 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Task1_train_847 | A genetic alteration is present in HPDL (4-hydroxyphenylpyruvate dioxygenase like) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | TACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCC 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TACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACCTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCC 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Task1_train_848 | A mutation in HPDL (4-hydroxyphenylpyruvate dioxygenase like), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | CTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTT 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CTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGCTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTT 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Task1_train_849 | This sequence variant lies in HPDL (4-hydroxyphenylpyruvate dioxygenase like) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCC 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TGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCAAAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCC 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Task1_train_850 | Here is a variant affecting HPDL (4-hydroxyphenylpyruvate dioxygenase like) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | TCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCT 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TCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGAGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCT 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Task1_train_851 | This genomic variant is located on Chromosome 1, within the MUTYH (mutY DNA glycosylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Gastric cancer | GGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCT 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GGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCCGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCT 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Task1_train_852 | The gene MUTYH (mutY DNA glycosylase) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Gastric cancer | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACAGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG |
Task1_train_853 | This genomic variant is located on Chromosome 1, within the MUTYH (mutY DNA glycosylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Familial adenomatous polyposis 2 | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACAGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG |
Task1_train_854 | This genomic variant is located on Chromosome 1, within the MUTYH (mutY DNA glycosylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACAGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG |
Task1_train_855 | A mutation found in MUTYH (mutY DNA glycosylase) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; B lymphoblastic leukemia lymphoma, no ICD-O subtype | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACAGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG 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Task1_train_856 | Consider a variant on Chromosome 1 in gene MUTYH (mutY DNA glycosylase). Determine its clinical classification and disease relevance. | Pathogenic; Familial adenomatous polyposis 2 | GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG 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GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACAGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG 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Task1_train_857 | This alteration in MUTYH (mutY DNA glycosylase) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Familial colorectal cancer | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG 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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACAGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG 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Task1_train_858 | Here’s a variant in MUTYH (mutY DNA glycosylase) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial adenomatous polyposis 2 | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG 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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACAGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG 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Task1_train_859 | Given this context: Chromosome 1, gene MUTYH (mutY DNA glycosylase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Familial adenomatous polyposis 2 | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG 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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACAGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG 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Task1_train_860 | A variant on Chromosome 1 in gene MUTYH (mutY DNA glycosylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Gastric cancer | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG 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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACAGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG 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Task1_train_861 | The gene MUTYH (mutY DNA glycosylase) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary cancer-predisposing syndrome | TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG 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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACAGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG 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Task1_train_862 | This alteration occurs within gene MUTYH (mutY DNA glycosylase) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; not specified | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT 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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCATGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT 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Task1_train_863 | The variant affects gene MUTYH (mutY DNA glycosylase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary cancer-predisposing syndrome | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT 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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCATGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT 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Task1_train_864 | Gene MUTYH (mutY DNA glycosylase) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Gastric cancer | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT 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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCATGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT 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Task1_train_865 | This variant affects the gene MUTYH (mutY DNA glycosylase) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial adenomatous polyposis 2 | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT 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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCATGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT 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Task1_train_866 | With a mutation on Chromosome 1 in gene MUTYH (mutY DNA glycosylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial adenomatous polyposis 2 | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT 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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCATGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT 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Task1_train_867 | The following genetic variant occurs in MUTYH (mutY DNA glycosylase) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial colorectal cancer type X | TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT 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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCATGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT 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Task1_train_868 | This genomic variant is located on Chromosome 1, within the MUTYH (mutY DNA glycosylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Familial adenomatous polyposis 2 | CACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCA 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CACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCTTATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCA 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Task1_train_869 | This mutation occurs in MUTYH (mutY DNA glycosylase) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | CACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCA 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CACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCTTATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCA 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Task1_train_870 | This is a variant in TOE1 (target of EGR1, exonuclease), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Pontocerebellar hypoplasia type 7 | GTCAGCAAAAGCACAACATCTGGGGAGGAGCTAGTAGTCCAGGTTCCCGTAGTGGATGTGCAAAGCAACAACTTCAAGGAGATGTGGCCATCCCTCCTGCTAGCCATAAAGACAGCTAATTTCGTGGCTGTGGACACGGTGAGAGTTGGGAAACAAGGAGGGCAGGTGGTTGTGAAGGGGCTGGTGCTAGAGGCCTGTCACAACTCTCCCTTTACCTACCCACAGGAGCTGAGTGGGCTTGGGGACAGGAAGAGTTTGCTGAACCAGTAAGTATAAGCCCTTTTCTCTTTAGTGCCAGCCCTCAACTGTGGAGTGGGGGGGTCACAGACCTGGGTGGTTTGGGTCCTTCATAAGGCTAACTCCTAGCCACAGCAACCCCCATACCCAACCCCAAGGTGCATTGAGGAACGTTACAAGGCCGTGTGTCATGCTGCCAGGACCCGTTCTATCCTTTCCCTGGGCCTCGCCTGCTTCAAGCGGCAGCCAGACAAGGTATGAGCTGATCTCACCCCAATCCTAGGTGTGGCTGTGGGGTGGAGGGTAGAGAGATTCTAGGGAACATCAGATAGGAAGCATTTCTCTCCCAAATCTTTTTTTTTGACTTGATAGTTTTTTTTTTTTTATTTGAATAGGTTTATGGGGAACAGGTGGTGTTTGGTTAAATGAGTAAGTTCTTTAGTGGCAATTTCTGAGATTTTGGTGCACCTATCACCCAGTGTACACTGTGCCCAATGCGTAGTCTTTTATCCCTCACCTGCCTCCATCCTTTCCCCCCTGAGTCCCCAGAGTCCATTGTATCATTCTTAAGCTTTTGCATCCTCCTAGCTTGGCTCTCTGAAATCTTGATATAGCAGACTTCTCTTTCTCCCAGGGTGAACATTCCTATCTGGCTCAAGTGTTCAATCTCACTCTGCTGTGCATGGAGGAGTATGTCATAGAACCAAAGTCTGTGCAGTTCCTGATACAGCATGGCTTCAACTTCAACCAGCAGTATGCCCAAGGCATCCCCTACCATAAGGGCAATGACAAGGTAGGCCTCTAGCCTCCCTAGCCTTGAGTCTGCCCTTTCTGTGACTTTATTTCTTCCTACCCTAGGCTGGATGTCTGGGGAGAATCTGCTTCTTAGGGAGTATGGGGAATCACTAGTGACAGGGCTTGGGAAACAAGACTGGTATGAGGAGGGTGGGCAGCATTGGGTAAGGTAGAGAGAGAGCGTTCCAAGTGGGGAAGTCTGGGATAAGTGCCCAGCAGAAGAGGCTCCCTGGGGGACTCTGTCCTCCTCATTGACCCCTTTACTTTCATCTAGGGTGATGAGAGCCAGAGCCAGTCAGTACGGACCCTATTCCTGGAGCTAATCCGAGCCCGCCGGCCCCTGGTGCTACACAATGGCCTTATAGACTTGGTGTTCCTGTACCAGAACTTCTATGCACACCTCCCTGAGAGTCTGGGAACCTTCACCGCTGACCTGTGTGAGATGTTCCCAGCAGGCATTTATGACACCAAATATGCTGCTGAGTTTCATGCCCGTTTCGTGGCCTCCTACTTAGAATATGCCTTCCGGAAATGGTGAGGAAATGGTTGAGGGAAAGGGGTGGGGCCTGATACGAGTTTATTTCATTCACTTAAGATATTTATTGAGCTCCTACCATGTGCCCAGGCAGTGTTTTAGGTGCTGAGGATTCAGCAGTGAACAAAACAGACCACAAAACCCTGCTCTTATGGAGCTTATATGCTAGTGGACCATTACCCTCTTGCGCTGTTGCAGTGAACGGGAAAATGGGAAGCAGCGGGCAGCTGGCAGCCCACACCTTACCCTGGAGTTCTGCAACTATCCTTCCAGCATGAGGGACCATATTGATTACCGCTGCTGCCTGCCCCCAGCAACCCACCGTCCTCATCCCACCAGCATCTGTGACAACTTCTCGGTGAGAGCACCCACCTGTTTCTTGGGAGGGAAGGTTCTGATGCCTGGAGCCTCTTTCTAAGCCTCTTTCCCACCCCTAGGCTTATGGCTGGTGCCCCCTGGGACCACAGTGTCCTCAGTCTCACGATATTGACCTTATCATTGACACTGATGAGGCTGCGGCAGAGGACAAGCGGCGACGGCGACGACGTAGGGAAAAACGGAAGAGGGCTTTATTGAACCTACCGGGGACACAGACCTCTGGGGAAGCTAAGGATGGTCCTCCCAAGAAGCAGGTCTGTGGGGATAGCATCAAGCCTGAAGAAACCGAGCAGGAGGTGGCTGCCGATGAAACTAGGAACCTGCCTCACTCCAAGCAAGGCAACAAAAATGACTTAGAGATGGGGATTAAGGCAGCAAGGCCTGAAATAGCTGATAGAGCTACCTCAGAAGTGCCAGGGAGCCAAGCCAGTCCTAACCCAGTGCCTGGGGATGGATTGCACCGGGCTGGTTTTGATGCCTTTATGACAGGTTATGTGATGGCCTATGTGGAAGTGAGCCAGGGACCGCAGCCCTGCAGCTCTGGACCCTGGCTCCCTGAATGCCACAATAAGGTATATTTGAGTGGCAAAGCTGTACCCCTCACAGTGGCCAAGAGCCAGTTCTCTCGTTCCTCCAAAGCCCACAATCAGAAGATGAAGCTCACTTGGGGCAGTAGCTGATGCAACTTCCACCTTGCTCTCAGGTGGAACAGAGGTATTTTGGGTCTCTCTAGCCTGAAATGTCATCCTCAACTGCTACTGAGTTTAGGGGAGGGGGAATGTCTTGACAGACATCACTGCATTGCCCTGGACCGCCTCCTTTATCCCAGTGTTTGAGGTACAAGTAAGAAGGCTGACCAGCACCTGTAACACTGACTTTATTTTTAAGTCTGAAAATGTCTTGGGAAAGTTTTACAAAAAAAAAAATCAACAGAAGCAAGTTATGAAAATATTTGACCAGCTTCATCTTTGGTTATTTCTTATTGCAGCTCTGTAAGGACAGACTGTTCCCAAAGCTCCAGCCATGGCAGGAAGGGAAGCAAATCAGTCCCTGTATAAACCATTTAACCAATTGAATGTATCACATGTTGATAAATACATAGAAGCAGGCCCTAGGGCCTACAAAACCAGCCCCACTCCCAACCACAAGGTTGAAAGTCTTATGGGGCAGAACATTAAGACTCCTTTATAAATATGAAAATAGATTAATCAACAGGAAAAGGTCTTTGAATAGGTTAGCTAAGAGCCATGACCACCACGCTGCCTTGCTGTCCCCTTGCATAGAAATGTAGTGACGTGGTCTGACCATGCAGTAAGTGCAAACAGCAATTACTCAAATGTCTTAGAATACTGGCAAGAAGCACCCCAATATTCAGGTCTGGGAAACAGCCATGACCATTACGGCCTCTTGATCAGCTCCATGTTCCACTCAGTAGCTTATATGCCCCAAGAAAAGGCAAGAGACAGACCTGGGGTGGGGAAAGAACCGGGGTAATAGCTGCCTGCCAGCTCAGCCTAGAACTAGACATCCTCTGGTCCTATCTGGGGAAGTACACTGGAGAGGGTCTGGTGGGAGGCAGACCTCCTTGCTGGATTTCAGAGGCTTGGTATCAGCTGTTGGCCCTAACTAGGAAGGCCTCTCACTGCTGCCTCCCGTCATACACAGCCAATGGGCACTGGGAGCCCAGAAGTTGAGCCTGGCTTGGCCTAGCCTGCCTGCTCTGTAGGCTCCAGGGAAGAATCAAGGCTGTGCACCTAGGGGGCCATATGGTTTCAGCTGAAGGTCCATCCCCAAGGTGAGGCAGGGACTAAACCCCCTCACCCATCCTGCTTTCCCTGGGTTTGCAGGCCTATGCCTGAGGTGGAGAAGGTGGCTGGAGTTGAGCCTGCTGGCCTTTCTTCTACCTCCATCTCCTCAGAAGCACCCGCAGGGCATGGACTGGTCCCCTGGGGCCTGGACCCAAAACCATTTTCTTCCTGGAGAATGGAGCAGTCCATAGCCTCATGGGCTTGAGCAGCTGGTAGGGCAGATGCCCGGAATGGTGGGATCTCTTTAACTCTGTACTTGAGACTACTTAGGCGTGGTGGGGGCCCATCAGATAGCGATTCTTCCCGGCCCACAAATGGACAAGCCTCTTGATGCAAGAACTCA 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GTCAGCAAAAGCACAACATCTGGGGAGGAGCTAGTAGTCCAGGTTCCCGTAGTGGATGTGCAAAGCAACAACTTCAAGGAGATGTGGCCATCCCTCCTGCTAGCCATAAAGACAGCTAATTTCGTGGCTGTGGACACGGTGAGAGTTGGGAAACAAGGAGGGCAGGTGGTTGTGAAGGGGCTGGTGCTAGAGGCCTGTCACAACTCTCCCTTTACCTACCCACAGGAGCTGAGTGGGCTTGGGGACAGGAAGAGTTTGCTGAACCAGTAAGTATAAGCCCTTTTCTCTTTAGTGCCAGCCCTCAACTGTGGAGTGGGGGGGTCACAGACCTGGGTGGTTTGGGTCCTTCATAAGGCTAACTCCTAGCCACAGCAACCCCCATACCCAACCCCAAGGTGCATTGAGGAACGTTACAAGGCCGTGTGTCATGCTGCCAGGACCCGTTCTATCCTTTCCCTGGGCCTCGCCTGCTTCAAGCGGCAGCCAGACAAGGTATGAGCTGATCTCACCCCAATCCTAGGTGTGGCTGTGGGGTGGAGGGTAGAGAGATTCTAGGGAACATCAGATAGGAAGCATTTCTCTCCCAAATCTTTTTTTTTGACTTGATAGTTTTTTTTTTTTTATTTGAATAGGTTTATGGGGAACAGGTGGTGTTTGGTTAAATGAGTAAGTTCTTTAGTGGCAATTTCTGAGATTTTGGTGCACCTATCACCCAGTGTACACTGTGCCCAATGCGTAGTCTTTTATCCCTCACCTGCCTCCATCCTTTCCCCCCTGAGTCCCCAGAGTCCATTGTATCATTCTTAAGCTTTTGCATCCTCCTAGCTTGGCTCTCTGAAATCTTGATATAGCAGACTTCTCTTTCTCCCAGGGTGAACATTCCTATCTGGCTCAAGTGTTCAATCTCACTCTGCTGTGCATGGAGGAGTATGTCATAGAACCAAAGTCTGTGCAGTTCCTGATACAGCATGGCTTCAACTTCAACCAGCAGTATGCCCAAGGCATCCCCTACCATAAGGGCAATGACAAGGTAGGCCTCTAGCCTCCCTAGCCTTGAGTCTGCCCTTTCTGTGACTTTATTTCTTCCTACCCTAGGCTGGATGTCTGGGGAGAATCTGCTTCTTAGGGAGTATGGGGAATCACTAGTGACAGGGCTTGGGAAACAAGACTGGTATGAGGAGGGTGGGCAGCATTGGGTAAGGTAGAGAGAGAGCGTTCCAAGTGGGGAAGTCTGGGATAAGTGCCCAGCAGAAGAGGCTCCCTGGGGGACTCTGTCCTCCTCATTGACCCCTTTACTTTCATCTAGGGTGATGAGAGCCAGAGCCAGTCAGTACGGACCCTATTCCTGGAGCTAATCCGAGCCCGCCGGCCCCTGGTGCTACACAATGGCCTTATAGACTTGGTGTTCCTGTACCAGAACTTCTATGCACACCTCCCTGAGAGTCTGGGAACCTTCACCGCTGACCTGTGTGAGATGTTCCCAGCAGGCATTTATGACACCAAATATGCTGCTGAGTTTCATGCCCGTTTCGTGGCCTCCTACTTAGAATATGCCTTCCGGAAATGGTGAGGAAATGGTTGAGGGAAAGGGGTGGGGCCTGATACGAGTTTATTTCATTCACTTAAGATATTTATTGAGCTCCTACCATGTGCCCAGGCAGTGTTTTAGGTGCTGAGGATTCAGCAGTGAACAAAACAGACCACAAAACCCTGCTCTTATGGAGCTTATATGCTAGTGGACCATTACCCTCTTGCGCTGTTGCAGTGAACGGGAAAATGGGAAGCAGCGGGCAGCTGGCAGCCCACACCTTACCCTGGAGTTCTGCAACTATCCTTCCAGCATGAGGGACCATATTGATTACCGCTGCTGCCTGCCCCCAGCAACCCACCGTCCTCATCCCACCAGCATCTGTGACAACTTCTCGGTGAGAGCACCCACCTGTTTCTTGGGAGGGAAGGTTCTGATGCCTGGAGCCTCTTTCTAAGCCTCTTTCCCACCCCTAGGCTTATGGCTGGTGCCCCCTGGGACCACAGTGTCCTCAGTCTCAAGATATTGACCTTATCATTGACACTGATGAGGCTGCGGCAGAGGACAAGCGGCGACGGCGACGACGTAGGGAAAAACGGAAGAGGGCTTTATTGAACCTACCGGGGACACAGACCTCTGGGGAAGCTAAGGATGGTCCTCCCAAGAAGCAGGTCTGTGGGGATAGCATCAAGCCTGAAGAAACCGAGCAGGAGGTGGCTGCCGATGAAACTAGGAACCTGCCTCACTCCAAGCAAGGCAACAAAAATGACTTAGAGATGGGGATTAAGGCAGCAAGGCCTGAAATAGCTGATAGAGCTACCTCAGAAGTGCCAGGGAGCCAAGCCAGTCCTAACCCAGTGCCTGGGGATGGATTGCACCGGGCTGGTTTTGATGCCTTTATGACAGGTTATGTGATGGCCTATGTGGAAGTGAGCCAGGGACCGCAGCCCTGCAGCTCTGGACCCTGGCTCCCTGAATGCCACAATAAGGTATATTTGAGTGGCAAAGCTGTACCCCTCACAGTGGCCAAGAGCCAGTTCTCTCGTTCCTCCAAAGCCCACAATCAGAAGATGAAGCTCACTTGGGGCAGTAGCTGATGCAACTTCCACCTTGCTCTCAGGTGGAACAGAGGTATTTTGGGTCTCTCTAGCCTGAAATGTCATCCTCAACTGCTACTGAGTTTAGGGGAGGGGGAATGTCTTGACAGACATCACTGCATTGCCCTGGACCGCCTCCTTTATCCCAGTGTTTGAGGTACAAGTAAGAAGGCTGACCAGCACCTGTAACACTGACTTTATTTTTAAGTCTGAAAATGTCTTGGGAAAGTTTTACAAAAAAAAAAATCAACAGAAGCAAGTTATGAAAATATTTGACCAGCTTCATCTTTGGTTATTTCTTATTGCAGCTCTGTAAGGACAGACTGTTCCCAAAGCTCCAGCCATGGCAGGAAGGGAAGCAAATCAGTCCCTGTATAAACCATTTAACCAATTGAATGTATCACATGTTGATAAATACATAGAAGCAGGCCCTAGGGCCTACAAAACCAGCCCCACTCCCAACCACAAGGTTGAAAGTCTTATGGGGCAGAACATTAAGACTCCTTTATAAATATGAAAATAGATTAATCAACAGGAAAAGGTCTTTGAATAGGTTAGCTAAGAGCCATGACCACCACGCTGCCTTGCTGTCCCCTTGCATAGAAATGTAGTGACGTGGTCTGACCATGCAGTAAGTGCAAACAGCAATTACTCAAATGTCTTAGAATACTGGCAAGAAGCACCCCAATATTCAGGTCTGGGAAACAGCCATGACCATTACGGCCTCTTGATCAGCTCCATGTTCCACTCAGTAGCTTATATGCCCCAAGAAAAGGCAAGAGACAGACCTGGGGTGGGGAAAGAACCGGGGTAATAGCTGCCTGCCAGCTCAGCCTAGAACTAGACATCCTCTGGTCCTATCTGGGGAAGTACACTGGAGAGGGTCTGGTGGGAGGCAGACCTCCTTGCTGGATTTCAGAGGCTTGGTATCAGCTGTTGGCCCTAACTAGGAAGGCCTCTCACTGCTGCCTCCCGTCATACACAGCCAATGGGCACTGGGAGCCCAGAAGTTGAGCCTGGCTTGGCCTAGCCTGCCTGCTCTGTAGGCTCCAGGGAAGAATCAAGGCTGTGCACCTAGGGGGCCATATGGTTTCAGCTGAAGGTCCATCCCCAAGGTGAGGCAGGGACTAAACCCCCTCACCCATCCTGCTTTCCCTGGGTTTGCAGGCCTATGCCTGAGGTGGAGAAGGTGGCTGGAGTTGAGCCTGCTGGCCTTTCTTCTACCTCCATCTCCTCAGAAGCACCCGCAGGGCATGGACTGGTCCCCTGGGGCCTGGACCCAAAACCATTTTCTTCCTGGAGAATGGAGCAGTCCATAGCCTCATGGGCTTGAGCAGCTGGTAGGGCAGATGCCCGGAATGGTGGGATCTCTTTAACTCTGTACTTGAGACTACTTAGGCGTGGTGGGGGCCCATCAGATAGCGATTCTTCCCGGCCCACAAATGGACAAGCCTCTTGATGCAAGAACTCA 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Task1_train_871 | This is a variant in MMACHC (metabolism of cobalamin associated C), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Cobalamin C disease | TTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTCACAAGACCCTAGATACTCTACTTGCAAAACAAGACACATGTGCACACACAACAGGTGTGTGGCAAAATTGTGTGCATACATATGAAGCTGTGTATATGAAGAAAATAACTGGCCAGATACCTTCCAGGACACTGATCTGGTACTTCTGCTGCTCTCGCTCTTCTAGCAGGCCCTGCACTGCCTGCCTTAGTGCCTGTCACCTCCCCAGGCAGAAAAAAGCACATGAACTACTGTATAACAGCTTTTCCCGACCCCTAGTATCCTCATCTTACACAAACATCACATATACACACCAAGGATTCCAAGCCTCACCTGAGCCTGACATTGAAATTAGGATCAGAGAATAGCAACCTCACCCCAGAGAGAGGATGGGCTCTAGGACTCAGGGCAGCTCAGCCTTTGTGGAACTATGGGAGTCTCTAAAGCCCAAGGCTGTTGAGCTTGGACTCCTGACTGCAGAGGCAAGTGATGAGAGGAAATCCAGGTCCCAGCCAGGTCCCCGGCTGAGGAAATAAGGAAGGGTTAAGTGCAGGGTCTGTGTGGGGAAACAGAGTTCAGGAAAGGACAGAGTTGGAATTTGGAAGGAATAATGGATGATACGGGCACTGGAGGAAGGCACAGAAAGAGAAAGGGCTTGGAAGTAGAAAGAGACATTACTTACCTGCGGTGGAGACCCCAAGAAGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAGGATACAGCCACTGCTACAAAAGAAACAGATGCACAGGCCAATGAACTCTGAGAGTCCCTTAGCCTCCCCACGCAAACTGGGGACCTCCACCAACCCCTCACCTTATTCCGGACCACATTTCCATCAGTAGCGTTGAGAAGCACATCCAGCTGCTCAAACCAGCTGAGGCTCGTATTCATATCCTGTGGCAGGGGAGCGGCAGGGGTCTGGCTCCCTGGTGTCTTGTGCTTGCTCTCCTAGCGGGGGATACCCAAGGTATCCCCAGGAAAGGCCACCACGTTAGATGGAAAGAGGGAAGTGGGGATGCAACACTGGGGTAGGTGGATGCACTATCAGACCAAAACTGCGATCCTGTGACTAGGGAAAGGAAGGACGCTCTTGGGGAACTGGGGGAAAAGCGGGATACCGTGATGATACGCAGATATCAGGTGGGGATTGAAGGTGCCAGAACCTGGTTGAGACCTCCCCAGAAGTAGTACACTGGCGCCACCACGCCAAACCTGTGCCAGTGACAACTGCCGCCGCCGGGTTCAAAACTTCGGGTTGGTTTTGAAAGTCCGACTTTGGACTGGCTGCCGCAGCGCCACCTGGGAAACTGAGGTCGCCTCTTGCGAACACAACCGGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTGTAGCTTGCCGGGAAACTGAGTCTTCCTGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCAGCGTGTAACGTGCGCTATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTTAGTTTATCCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCTCGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAGAGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCAACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAACCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGTGTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGTCACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTATCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGCTGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGGGCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGACCCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTACAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCCCATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGGTTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAGATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAGGTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAAGCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTTTAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTATCTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAGCCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCACCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCATCTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGTAATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCTAGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTTAAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCCCTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCCAGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTATTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCC 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TTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTCACAAGACCCTAGATACTCTACTTGCAAAACAAGACACATGTGCACACACAACAGGTGTGTGGCAAAATTGTGTGCATACATATGAAGCTGTGTATATGAAGAAAATAACTGGCCAGATACCTTCCAGGACACTGATCTGGTACTTCTGCTGCTCTCGCTCTTCTAGCAGGCCCTGCACTGCCTGCCTTAGTGCCTGTCACCTCCCCAGGCAGAAAAAAGCACATGAACTACTGTATAACAGCTTTTCCCGACCCCTAGTATCCTCATCTTACACAAACATCACATATACACACCAAGGATTCCAAGCCTCACCTGAGCCTGACATTGAAATTAGGATCAGAGAATAGCAACCTCACCCCAGAGAGAGGATGGGCTCTAGGACTCAGGGCAGCTCAGCCTTTGTGGAACTATGGGAGTCTCTAAAGCCCAAGGCTGTTGAGCTTGGACTCCTGACTGCAGAGGCAAGTGATGAGAGGAAATCCAGGTCCCAGCCAGGTCCCCGGCTGAGGAAATAAGGAAGGGTTAAGTGCAGGGTCTGTGTGGGGAAACAGAGTTCAGGAAAGGACAGAGTTGGAATTTGGAAGGAATAATGGATGATACGGGCACTGGAGGAAGGCACAGAAAGAGAAAGGGCTTGGAAGTAGAAAGAGACATTACTTACCTGCGGTGGAGACCCCAAGAAGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAGGATACAGCCACTGCTACAAAAGAAACAGATGCACAGGCCAATGAACTCTGAGAGTCCCTTAGCCTCCCCACGCAAACTGGGGACCTCCACCAACCCCTCACCTTATTCCGGACCACATTTCCATCAGTAGCGTTGAGAAGCACATCCAGCTGCTCAAACCAGCTGAGGCTCGTATTCATATCCTGTGGCAGGGGAGCGGCAGGGGTCTGGCTCCCTGGTGTCTTGTGCTTGCTCTCCTAGCGGGGGATACCCAAGGTATCCCCAGGAAAGGCCACCACGTTAGATGGAAAGAGGGAAGTGGGGATGCAACACTGGGGTAGGTGGATGCACTATCAGACCAAAACTGCGATCCTGTGACTAGGGAAAGGAAGGACGCTCTTGGGGAACTGGGGGAAAAGCGGGATACCGTGATGATACGCAGATATCAGGTGGGGATTGAAGGTGCCAGAACCTGGTTGAGACCTCCCCAGAAGTAGTACACTGGCGCCACCACGCCAAACCTGTGCCAGTGACAACTGCCGCCGCCGGGTTCAAAACTTCGGGTTGGTTTTGAAAGTCCGACTTTGGACTGGCTGCCGCAGCGCCACCTGGGAAACTGAGGTCGCCTCTTGCGAACACAACCGGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTGTAGCTTGCCGGGAAACTGAGTCTTCCTGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCAGCGTGTAACGTGCGCTGTGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTTAGTTTATCCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCTCGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAGAGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCAACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAACCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGTGTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGTCACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTATCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGCTGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGGGCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGACCCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTACAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCCCATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGGTTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAGATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAGGTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAAGCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTTTAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTATCTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAGCCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCACCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCATCTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGTAATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCTAGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTTAAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCCCTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCCAGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTATTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCC 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Task1_train_872 | Given this variant in gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cobalamin C disease | GTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTCACAAGACCCTAGATACTCTACTTGCAAAACAAGACACATGTGCACACACAACAGGTGTGTGGCAAAATTGTGTGCATACATATGAAGCTGTGTATATGAAGAAAATAACTGGCCAGATACCTTCCAGGACACTGATCTGGTACTTCTGCTGCTCTCGCTCTTCTAGCAGGCCCTGCACTGCCTGCCTTAGTGCCTGTCACCTCCCCAGGCAGAAAAAAGCACATGAACTACTGTATAACAGCTTTTCCCGACCCCTAGTATCCTCATCTTACACAAACATCACATATACACACCAAGGATTCCAAGCCTCACCTGAGCCTGACATTGAAATTAGGATCAGAGAATAGCAACCTCACCCCAGAGAGAGGATGGGCTCTAGGACTCAGGGCAGCTCAGCCTTTGTGGAACTATGGGAGTCTCTAAAGCCCAAGGCTGTTGAGCTTGGACTCCTGACTGCAGAGGCAAGTGATGAGAGGAAATCCAGGTCCCAGCCAGGTCCCCGGCTGAGGAAATAAGGAAGGGTTAAGTGCAGGGTCTGTGTGGGGAAACAGAGTTCAGGAAAGGACAGAGTTGGAATTTGGAAGGAATAATGGATGATACGGGCACTGGAGGAAGGCACAGAAAGAGAAAGGGCTTGGAAGTAGAAAGAGACATTACTTACCTGCGGTGGAGACCCCAAGAAGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAGGATACAGCCACTGCTACAAAAGAAACAGATGCACAGGCCAATGAACTCTGAGAGTCCCTTAGCCTCCCCACGCAAACTGGGGACCTCCACCAACCCCTCACCTTATTCCGGACCACATTTCCATCAGTAGCGTTGAGAAGCACATCCAGCTGCTCAAACCAGCTGAGGCTCGTATTCATATCCTGTGGCAGGGGAGCGGCAGGGGTCTGGCTCCCTGGTGTCTTGTGCTTGCTCTCCTAGCGGGGGATACCCAAGGTATCCCCAGGAAAGGCCACCACGTTAGATGGAAAGAGGGAAGTGGGGATGCAACACTGGGGTAGGTGGATGCACTATCAGACCAAAACTGCGATCCTGTGACTAGGGAAAGGAAGGACGCTCTTGGGGAACTGGGGGAAAAGCGGGATACCGTGATGATACGCAGATATCAGGTGGGGATTGAAGGTGCCAGAACCTGGTTGAGACCTCCCCAGAAGTAGTACACTGGCGCCACCACGCCAAACCTGTGCCAGTGACAACTGCCGCCGCCGGGTTCAAAACTTCGGGTTGGTTTTGAAAGTCCGACTTTGGACTGGCTGCCGCAGCGCCACCTGGGAAACTGAGGTCGCCTCTTGCGAACACAACCGGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTGTAGCTTGCCGGGAAACTGAGTCTTCCTGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCAGCGTGTAACGTGCGCTATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTTAGTTTATCCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCTCGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAGAGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCAACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAACCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGTGTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGTCACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTATCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGCTGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGGGCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGACCCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTACAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCCCATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGGTTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAGATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAGGTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAAGCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTTTAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTATCTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAGCCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCACCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCATCTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGTAATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCTAGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTTAAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCCCTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCCAGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTATTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCA | GTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTCACAAGACCCTAGATACTCTACTTGCAAAACAAGACACATGTGCACACACAACAGGTGTGTGGCAAAATTGTGTGCATACATATGAAGCTGTGTATATGAAGAAAATAACTGGCCAGATACCTTCCAGGACACTGATCTGGTACTTCTGCTGCTCTCGCTCTTCTAGCAGGCCCTGCACTGCCTGCCTTAGTGCCTGTCACCTCCCCAGGCAGAAAAAAGCACATGAACTACTGTATAACAGCTTTTCCCGACCCCTAGTATCCTCATCTTACACAAACATCACATATACACACCAAGGATTCCAAGCCTCACCTGAGCCTGACATTGAAATTAGGATCAGAGAATAGCAACCTCACCCCAGAGAGAGGATGGGCTCTAGGACTCAGGGCAGCTCAGCCTTTGTGGAACTATGGGAGTCTCTAAAGCCCAAGGCTGTTGAGCTTGGACTCCTGACTGCAGAGGCAAGTGATGAGAGGAAATCCAGGTCCCAGCCAGGTCCCCGGCTGAGGAAATAAGGAAGGGTTAAGTGCAGGGTCTGTGTGGGGAAACAGAGTTCAGGAAAGGACAGAGTTGGAATTTGGAAGGAATAATGGATGATACGGGCACTGGAGGAAGGCACAGAAAGAGAAAGGGCTTGGAAGTAGAAAGAGACATTACTTACCTGCGGTGGAGACCCCAAGAAGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAGGATACAGCCACTGCTACAAAAGAAACAGATGCACAGGCCAATGAACTCTGAGAGTCCCTTAGCCTCCCCACGCAAACTGGGGACCTCCACCAACCCCTCACCTTATTCCGGACCACATTTCCATCAGTAGCGTTGAGAAGCACATCCAGCTGCTCAAACCAGCTGAGGCTCGTATTCATATCCTGTGGCAGGGGAGCGGCAGGGGTCTGGCTCCCTGGTGTCTTGTGCTTGCTCTCCTAGCGGGGGATACCCAAGGTATCCCCAGGAAAGGCCACCACGTTAGATGGAAAGAGGGAAGTGGGGATGCAACACTGGGGTAGGTGGATGCACTATCAGACCAAAACTGCGATCCTGTGACTAGGGAAAGGAAGGACGCTCTTGGGGAACTGGGGGAAAAGCGGGATACCGTGATGATACGCAGATATCAGGTGGGGATTGAAGGTGCCAGAACCTGGTTGAGACCTCCCCAGAAGTAGTACACTGGCGCCACCACGCCAAACCTGTGCCAGTGACAACTGCCGCCGCCGGGTTCAAAACTTCGGGTTGGTTTTGAAAGTCCGACTTTGGACTGGCTGCCGCAGCGCCACCTGGGAAACTGAGGTCGCCTCTTGCGAACACAACCGGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTGTAGCTTGCCGGGAAACTGAGTCTTCCTGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCAGCGTGTAACGTGCGCTATAGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTTAGTTTATCCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCTCGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAGAGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCAACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAACCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGTGTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGTCACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTATCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGCTGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGGGCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGACCCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTACAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCCCATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGGTTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAGATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAGGTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAAGCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTTTAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTATCTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAGCCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCACCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCATCTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGTAATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCTAGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTTAAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCCCTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCCAGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTATTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCA 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Task1_train_873 | This variant impacts the gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cobalamin C disease | CAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTCACAAGACCCTAGATACTCTACTTGCAAAACAAGACACATGTGCACACACAACAGGTGTGTGGCAAAATTGTGTGCATACATATGAAGCTGTGTATATGAAGAAAATAACTGGCCAGATACCTTCCAGGACACTGATCTGGTACTTCTGCTGCTCTCGCTCTTCTAGCAGGCCCTGCACTGCCTGCCTTAGTGCCTGTCACCTCCCCAGGCAGAAAAAAGCACATGAACTACTGTATAACAGCTTTTCCCGACCCCTAGTATCCTCATCTTACACAAACATCACATATACACACCAAGGATTCCAAGCCTCACCTGAGCCTGACATTGAAATTAGGATCAGAGAATAGCAACCTCACCCCAGAGAGAGGATGGGCTCTAGGACTCAGGGCAGCTCAGCCTTTGTGGAACTATGGGAGTCTCTAAAGCCCAAGGCTGTTGAGCTTGGACTCCTGACTGCAGAGGCAAGTGATGAGAGGAAATCCAGGTCCCAGCCAGGTCCCCGGCTGAGGAAATAAGGAAGGGTTAAGTGCAGGGTCTGTGTGGGGAAACAGAGTTCAGGAAAGGACAGAGTTGGAATTTGGAAGGAATAATGGATGATACGGGCACTGGAGGAAGGCACAGAAAGAGAAAGGGCTTGGAAGTAGAAAGAGACATTACTTACCTGCGGTGGAGACCCCAAGAAGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAGGATACAGCCACTGCTACAAAAGAAACAGATGCACAGGCCAATGAACTCTGAGAGTCCCTTAGCCTCCCCACGCAAACTGGGGACCTCCACCAACCCCTCACCTTATTCCGGACCACATTTCCATCAGTAGCGTTGAGAAGCACATCCAGCTGCTCAAACCAGCTGAGGCTCGTATTCATATCCTGTGGCAGGGGAGCGGCAGGGGTCTGGCTCCCTGGTGTCTTGTGCTTGCTCTCCTAGCGGGGGATACCCAAGGTATCCCCAGGAAAGGCCACCACGTTAGATGGAAAGAGGGAAGTGGGGATGCAACACTGGGGTAGGTGGATGCACTATCAGACCAAAACTGCGATCCTGTGACTAGGGAAAGGAAGGACGCTCTTGGGGAACTGGGGGAAAAGCGGGATACCGTGATGATACGCAGATATCAGGTGGGGATTGAAGGTGCCAGAACCTGGTTGAGACCTCCCCAGAAGTAGTACACTGGCGCCACCACGCCAAACCTGTGCCAGTGACAACTGCCGCCGCCGGGTTCAAAACTTCGGGTTGGTTTTGAAAGTCCGACTTTGGACTGGCTGCCGCAGCGCCACCTGGGAAACTGAGGTCGCCTCTTGCGAACACAACCGGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTGTAGCTTGCCGGGAAACTGAGTCTTCCTGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCAGCGTGTAACGTGCGCTATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTTAGTTTATCCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCTCGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAGAGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCAACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAACCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGTGTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGTCACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTATCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGCTGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGGGCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGACCCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTACAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCCCATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGGTTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAGATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAGGTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAAGCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTTTAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTATCTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAGCCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCACCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCATCTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGTAATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCTAGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTTAAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCCCTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCCAGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTATTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACTTTAGTCTCCCAAGTAGCTGACTCCAGGCATGCACCAACACTCAGGGTCTCACTTTGTTGCCCTGGCTGGTCTTGA 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CAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTCACAAGACCCTAGATACTCTACTTGCAAAACAAGACACATGTGCACACACAACAGGTGTGTGGCAAAATTGTGTGCATACATATGAAGCTGTGTATATGAAGAAAATAACTGGCCAGATACCTTCCAGGACACTGATCTGGTACTTCTGCTGCTCTCGCTCTTCTAGCAGGCCCTGCACTGCCTGCCTTAGTGCCTGTCACCTCCCCAGGCAGAAAAAAGCACATGAACTACTGTATAACAGCTTTTCCCGACCCCTAGTATCCTCATCTTACACAAACATCACATATACACACCAAGGATTCCAAGCCTCACCTGAGCCTGACATTGAAATTAGGATCAGAGAATAGCAACCTCACCCCAGAGAGAGGATGGGCTCTAGGACTCAGGGCAGCTCAGCCTTTGTGGAACTATGGGAGTCTCTAAAGCCCAAGGCTGTTGAGCTTGGACTCCTGACTGCAGAGGCAAGTGATGAGAGGAAATCCAGGTCCCAGCCAGGTCCCCGGCTGAGGAAATAAGGAAGGGTTAAGTGCAGGGTCTGTGTGGGGAAACAGAGTTCAGGAAAGGACAGAGTTGGAATTTGGAAGGAATAATGGATGATACGGGCACTGGAGGAAGGCACAGAAAGAGAAAGGGCTTGGAAGTAGAAAGAGACATTACTTACCTGCGGTGGAGACCCCAAGAAGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAGGATACAGCCACTGCTACAAAAGAAACAGATGCACAGGCCAATGAACTCTGAGAGTCCCTTAGCCTCCCCACGCAAACTGGGGACCTCCACCAACCCCTCACCTTATTCCGGACCACATTTCCATCAGTAGCGTTGAGAAGCACATCCAGCTGCTCAAACCAGCTGAGGCTCGTATTCATATCCTGTGGCAGGGGAGCGGCAGGGGTCTGGCTCCCTGGTGTCTTGTGCTTGCTCTCCTAGCGGGGGATACCCAAGGTATCCCCAGGAAAGGCCACCACGTTAGATGGAAAGAGGGAAGTGGGGATGCAACACTGGGGTAGGTGGATGCACTATCAGACCAAAACTGCGATCCTGTGACTAGGGAAAGGAAGGACGCTCTTGGGGAACTGGGGGAAAAGCGGGATACCGTGATGATACGCAGATATCAGGTGGGGATTGAAGGTGCCAGAACCTGGTTGAGACCTCCCCAGAAGTAGTACACTGGCGCCACCACGCCAAACCTGTGCCAGTGACAACTGCCGCCGCCGGGTTCAAAACTTCGGGTTGGTTTTGAAAGTCCGACTTTGGACTGGCTGCCGCAGCGCCACCTGGGAAACTGAGGTCGCCTCTTGCGAACACAACCGGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTGTAGCTTGCCGGGAAACTGAGTCTTCCTGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCAGCGTGTAACGTGCGCTATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCGGGTTAGTTTATCCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCTCGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAGAGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCAACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAACCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGTGTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGTCACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTATCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGCTGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGGGCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGACCCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTACAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCCCATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGGTTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAGATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAGGTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAAGCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTTTAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTATCTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAGCCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCACCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCATCTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGTAATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCTAGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTTAAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCCCTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCCAGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTATTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACTTTAGTCTCCCAAGTAGCTGACTCCAGGCATGCACCAACACTCAGGGTCTCACTTTGTTGCCCTGGCTGGTCTTGA 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Task1_train_874 | The variant affects gene MMACHC (metabolism of cobalamin associated C), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not specified | ATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGT 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ATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACCCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGT 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Task1_train_875 | Assess the clinical impact of this variant on gene MMACHC (metabolism of cobalamin associated C), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cobalamin C disease | ATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGT 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ATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACCCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGT 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Task1_train_876 | Given this variant in gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cobalamin C disease | CAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTA | CAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGATGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTA |
Task1_train_877 | Given this variant in gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cobalamin C disease | GTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCAT | GTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCAAACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCAT 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Task1_train_878 | Gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cobalamin C disease | TGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAA 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TGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGAGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAA 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Task1_train_879 | This variant affects gene MMACHC (metabolism of cobalamin associated C) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Cobalamin C disease | TCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTC 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TCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCAAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTC 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Task1_train_880 | Here is a mutation in MMACHC (metabolism of cobalamin associated C) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Inborn genetic diseases | TCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTC 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TCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCAAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTC 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Task1_train_881 | Gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cobalamin C disease | TCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGT 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TCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACCCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGT 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Task1_train_882 | The gene LOC129930446, MMACHC (ATAC-STARR-seq lymphoblastoid active region 972| metabolism of cobalamin associated C) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cobalamin C disease | TTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTCATCAAGGTCTCAG 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TTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCCACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTCATCAAGGTCTCAG 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Task1_train_883 | A mutation in POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinitis pigmentosa 76 | CCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGG 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CCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGGCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGG 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Task1_train_884 | Mutation context: Chromosome 1, Gene POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | TTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGAT 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TTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCACGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGAT 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Task1_train_885 | A sequence alteration has been identified in POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Retinitis pigmentosa 76 | GGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCC 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GGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTTATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCC 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Task1_train_886 | A variant was discovered in gene POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinitis pigmentosa 76 | GTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGG 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GTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCCGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGG 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Task1_train_887 | A change on Chromosome 1 affects gene POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2O | GCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACAT 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GCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCTATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACAT 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Task1_train_888 | A genomic change on Chromosome 1 affects POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | GCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACAT 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GCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCTATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACAT 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Task1_train_889 | This variant affects gene POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2O | TAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACATTT 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TAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCACACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACATTT 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Task1_train_890 | Here is a variant affecting POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | TAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACATTT 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TAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCACACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACATTT 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Task1_train_891 | Consider a variant on Chromosome 1 in gene RAD54L (RAD54 like). Determine its clinical classification and disease relevance. | Pathogenic; Colon adenocarcinoma | CCGCGCAACTACCTCCTCCCTTCACCCGGACTGGGACCATCATCCCCACTCCACTCCGCCCAGTCTGGGACTCCACCTGCCTCCTCCCCAATCCCACACTAATCTCTGCTTGGTCTCTTCCTCTTTGGCCTAATCTCTCGTCTCGGCTTATTGGGGACGGCCACTCTCACAGTTTGGTTCCAAACACCAGTTCCTGGATGGATTCCCGCCATCCATGCCCCCTCTTTAATTAGCCGGTCCTCTCAATAATGTAGCAGCCCCCTCTACAGATTAGACCCTGGTCCTACACTCTTAGCCGCTGCCTGCTTTTGACCTTTGGCTCATGGGTACTTGACGTTTTAAACTCCTAGGCCCAGGATGGTAAGTGTGGGCCTAGGGGAGACTGGGAATAGCCCTGGGTCAGGGTCTAGTAGGCCTAGGCTGCAGGATCCTTGCAGGCACTGTTTCTGTTCTCCCTTTACAGAGGAGGAGCTTGGCTCCCAGCCAGCTGGCCAAGAGAAAACCTGAAGGCAGGTCCTGTGATGATGAAGACTGGCAACCTGGCCTAGTGGTGAGCACTCAAGGGGACAGGGAAGGTGGGTAGAGCTGTTTGGACAGAAAAGAAGCCAGGATTTGGTTTCTAGGGTTACATAGCCAATTCCAGATGCCTCTTTTGTATGTTCAATAAACTTTTAGTGAGTACTTACTATGTGCCAGGCATTGAACAAGATTAGTAAAATCTTTATCCTCAGGGTAGTCACTAGAAGCTAATATAGCCTCAGTTTTCCTGGTGGGAAAAGATAAGCAAAAGAGCCAGTTGGATTGGACCTTTTGACTCTGCTTGGAAAAAAGGGCTACACAACAGCAATTAGCAGCTGGCTCTTTTGCTCTTTGTCCCCTGCCCAGTGTCACAGAACAGTAGAGTGTTCTGGGCCTACCTTGGAGTCCTGGGCTCACTTGGGCCTAGATCTGACAGGTTGTGTCCTTCCAGTCCTTGCTCATACTCAAGTACAGTATATTCTACTTTAGGTTGGGCCCTGGGCTCTGCTTCCTGTTTTGGAGGCTTGTTGGGGCTGGCTGTGGGCAGGACCTATGTAAACCAAAATAAATAGGACAGTGCAGCATGGACTTCAGAGAATAAGAGCAGTTCAAGAAGTGGGGGCTTGGCCACTGGAACTTTGAAGGAAGGGATCAGCTACGCAAGGACTAGAAGGCACTTTTTGGCAGGAGCAGTGTGTGAATAAGGTGTGGGGTAGGGGTGCTGGTGTTTGTTTCAGGTGTGTCTTACAGGATCACTGAGGCTTCAAATATCCTGGCAAGCTGGTACAAGTGTGTTCTTGCCTAATGGCTTGATGGGGCTTGCTCAATAGTTGTACCGTGGTGTGCAAGGGGCTTCTCTACCTGTGAAGGAGGCACATTGGCTGACCCTTGCCATGTACATGGGTCTCAGACTTGAACTTGGGGCAGCATTCTCTGCATCTGGGTCTGCTGTCAGTTGCTGGTTGCTTCTGAAGATGCTTTTAGTGCCAGTGTCCTCACAGCCATGGGTGGCCTGAGTGGGGAGTGGCCTCAGTGGCCTGGGAGTTGAAGGCAGCTGTATTCTTGCCTCTTGGAAACTCAGCGAAATGTTTGGTTGCTCCATCATTCCATGGAGCTTTTGGAGTGAAGCTTTGGGCCACCAGGACTCCATGCTGTTGGTAGACTTGCTCTTCAGAGGCCCATTTTATTTACCTCTTCCATTGCCCCGCTCAGTTTAGGCAGGTTATTTAATCTCATTAAGCTCTAGTTTTCTCACCTCTTAAATAAGGATAATAACTCTACATAATAGAGTTGCTATGAAGATGATACACTATGACATGTGTGAAGAATTTAGCACAGTGCCTGGCACTTAATAAGCACTTCAAGTGTTAGTTGCCATTATGGTGATTTCTGTGGTCTTCTAGACTTCACCTTTCCCAATTCTCTCTCCTAGACTCCTAGGAAACGGAAATCCAGCAGTGAGACCCAGATCCAGGAGTGTTTCCTGTCTCCTTTTCGGAAACCTTTGAGTCAGCTAACCAATCAACCACCTTGTCTGGACAGCAGTCAGCATGTAAGCCAGAACTGCAACCTGCATGTGTATGTCTGTGCCCAGTCACTCAGCCTAGGTAGACTCCTGTCCCTGTACACTCCCTCAGTGCTTTCTAGAGTGGCCAGAAGACACACATCTGTAGGGGCTTTGGACCTGCCCACAGCTGCTGGGGCCTGCTTAGAGAGGTGTGCCTGACTTGTGCCTGGTTTATAGTAGCTACATGGGCACCAGATATCAGATGGTTCAGATTCCTGAGGAAAGGAGGGTAAAGGAACTAGGATCCTCATGTCAGCTCAGACTCTGACTCTGTATATGACTTTAAGGTGTACCAGAGTCATGTATTTCCTCTAGTAAAGTCAAACTTAATCACCACCATGGCAGGTTCTGTGCATTGCCTCATGTAATTCTCACGTTTTAAGATGAGAAAACAGTCTCAGAAGGGTTAAGTAATTTGCTCAGAGTGGGTGGAGCAGATCTGTCTATCTCCAAAGCTTTTCCACTAAGCTTTATGAGGAATGTTTTGAAGGAAAAGTAGGAATACATAATGGAGATTAGTCATTTGTGCATTCAGCAAACATTTAAAAACGGTTTTGTGGCCGGGTCGGGTGGTTCACGCCTGTAATCACAGCACTTTGGAAGGCTGAGATGGGTGGATCAACTGAGGTTAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACTGGGCATGGTGTCATACCCCTGTAGTCCCAGCTACTCAAGTGAGGCATGAGAATCACTTGAACCCGGGAGGCCGAGGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAGCCTGGGCAAGAGTGAGACTCGGTCTCAAAAAAAAAAAACAAAAAACAAAAAACAAAACAAAACAACTAAATGAAAACAGTTTTGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTATTAAAAATACAGAGAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGCGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCGACAAGAGTGAAAATCCGTCCCCAAAACAACAACAAAAAAACAACAGTTTTGTGTAATACTTGATAAATATAGATATATTACATAAGTTATAAAACACAAACACCCGTGAACCCATCATCCAGGACTAGAACATTGTCAAACCCATAATCCCTTTTCCCATCCCCAGAGGTAATCACTATCTTGAATTTTATCCATCATCTTTTGCTTTTATGATAGTTTTAGCATACATATAAAAATCACTAATACAGCCTTGGCAACAGAGTGAGACCACCTCAAAAAAAAAATCACTAATACATTGTTTAATTGGTTCTTTGAACTTTAAAAAATGGTGTTGGGTGGGCATGTTGGTTCATGCCTGTAATCCCAGCATTCTGGGAGGCCAAGGTAGGCGGATAGCTTGAGCTCAGGAGTTTGAGACCAACCCAGGCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCGTGTGCCTGTTGTCCCAGCTACTTGGGAGGCTGACATGGGAGGATCACTTGAGCTTAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGGCACCATTGCACTCCAGCCTGGGTGACAGAGCGAGACCCCGTCTCAAAAGAAAGAAAATGGTGTTAAAATGGTGTGTAATCCTCTGGGACTGTTTCATTCAGGATTTGTTCAAAGTTGTCCTGTGTAACTACATGGCATAAGTGCAGTTGTGGGAGTGCACAACAGGAGACCTATGGGTCTGGAGATTGGGGAAGACCTGCCTCTGAGAGATGTGCTGTTAAGTCCTGAAAGATATGAGGGGTTAGACAGGTGAAGGGAGTGGAAAACATTCTAATAGA 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CCGCGCAACTACCTCCTCCCTTCACCCGGACTGGGACCATCATCCCCACTCCACTCCGCCCAGTCTGGGACTCCACCTGCCTCCTCCCCAATCCCACACTAATCTCTGCTTGGTCTCTTCCTCTTTGGCCTAATCTCTCGTCTCGGCTTATTGGGGACGGCCACTCTCACAGTTTGGTTCCAAACACCAGTTCCTGGATGGATTCCCGCCATCCATGCCCCCTCTTTAATTAGCCGGTCCTCTCAATAATGTAGCAGCCCCCTCTACAGATTAGACCCTGGTCCTACACTCTTAGCCGCTGCCTGCTTTTGACCTTTGGCTCATGGGTACTTGACGTTTTAAACTCCTAGGCCCAGGATGGTAAGTGTGGGCCTAGGGGAGACTGGGAATAGCCCTGGGTCAGGGTCTAGTAGGCCTAGGCTGCAGGATCCTTGCAGGCACTGTTTCTGTTCTCCCTTTACAGAGGAGGAGCTTGGCTCCCAGCCAGCTGGCCAAGAGAAAACCTGAAGGCAGGTCCTGTGATGATGAAGACTGGCAACCTGGCCTAGTGGTGAGCACTCAAGGGGACAGGGAAGGTGGGTAGAGCTGTTTGGACAGAAAAGAAGCCAGGATTTGGTTTCTAGGGTTACATAGCCAATTCCAGATGCCTCTTTTGTATGTTCAATAAACTTTTAGTGAGTACTTACTATGTGCCAGGCATTGAACAAGATTAGTAAAATCTTTATCCTCAGGGTAGTCACTAGAAGCTAATATAGCCTCAGTTTTCCTGGTGGGAAAAGATAAGCAAAAGAGCCAGTTGGATTGGACCTTTTGACTCTGCTTGGAAAAAAGGGCTACACAACAGCAATTAGCAGCTGGCTCTTTTGCTCTTTGTCCCCTGCCCAGTGTCACAGAACAGTAGAGTGTTCTGGGCCTACCTTGGAGTCCTGGGCTCACTTGGGCCTAGATCTGACAGGTTGTGTCCTTCCAGTCCTTGCTCATACTCAAGTACAGTATATTCTACTTTAGGTTGGGCCCTGGGCTCTGCTTCCTGTTTTGGAGGCTTGTTGGGGCTGGCTGTGGGCAGGACCTATGTAAACCAAAATAAATAGGACAGTGCAGCATGGACTTCAGAGAATAAGAGCAGTTCAAGAAGTGGGGGCTTGGCCACTGGAACTTTGAAGGAAGGGATCAGCTACGCAAGGACTAGAAGGCACTTTTTGGCAGGAGCAGTGTGTGAATAAGGTGTGGGGTAGGGGTGCTGGTGTTTGTTTCAGGTGTGTCTTACAGGATCACTGAGGCTTCAAATATCCTGGCAAGCTGGTACAAGTGTGTTCTTGCCTAATGGCTTGATGGGGCTTGCTCAATAGTTGTACCGTGGTGTGCAAGGGGCTTCTCTACCTGTGAAGGAGGCACATTGGCTGACCCTTGCCATGTACATGGGTCTCAGACTTGAACTTGGGGCAGCATTCTCTGCATCTGGGTCTGCTGTCAGTTGCTGGTTGCTTCTGAAGATGCTTTTAGTGCCAGTGTCCTCACAGCCATGGGTGGCCTGAGTGGGGAGTGGCCTCAGTGGCCTGGGAGTTGAAGGCAGCTGTATTCTTGCCTCTTGGAAACTCAGCGAAATGTTTGGTTGCTCCATCATTCCATGGAGCTTTTGGAGTGAAGCTTTGGGCCACCAGGACTCCATGCTGTTGGTAGACTTGCTCTTCAGAGGCCCATTTTATTTACCTCTTCCATTGCCCCGCTCAGTTTAGGCAGGTTATTTAATCTCATTAAGCTCTAGTTTTCTCACCTCTTAAATAAGGATAATAACTCTACATAATAGAGTTGCTATGAAGATGATACACTATGACATGTGTGAAGAATTTAGCACAGTGCCTGGCACTTAATAAGCACTTCAAGTGTTAGTTGCCATTATGGTGATTTCTGTGGTCTTCTAGACTTCACCTTTCCCAATTCTCTCTCCTAGACTCCTAGGAAACGGAAATCCAGCAGTGAGACCCAGATCCAGGAGTGTTTCCTGTCTCCTTTTCGGAAACCTTTGAGTCAGCTAACCAATCAACCACATTGTCTGGACAGCAGTCAGCATGTAAGCCAGAACTGCAACCTGCATGTGTATGTCTGTGCCCAGTCACTCAGCCTAGGTAGACTCCTGTCCCTGTACACTCCCTCAGTGCTTTCTAGAGTGGCCAGAAGACACACATCTGTAGGGGCTTTGGACCTGCCCACAGCTGCTGGGGCCTGCTTAGAGAGGTGTGCCTGACTTGTGCCTGGTTTATAGTAGCTACATGGGCACCAGATATCAGATGGTTCAGATTCCTGAGGAAAGGAGGGTAAAGGAACTAGGATCCTCATGTCAGCTCAGACTCTGACTCTGTATATGACTTTAAGGTGTACCAGAGTCATGTATTTCCTCTAGTAAAGTCAAACTTAATCACCACCATGGCAGGTTCTGTGCATTGCCTCATGTAATTCTCACGTTTTAAGATGAGAAAACAGTCTCAGAAGGGTTAAGTAATTTGCTCAGAGTGGGTGGAGCAGATCTGTCTATCTCCAAAGCTTTTCCACTAAGCTTTATGAGGAATGTTTTGAAGGAAAAGTAGGAATACATAATGGAGATTAGTCATTTGTGCATTCAGCAAACATTTAAAAACGGTTTTGTGGCCGGGTCGGGTGGTTCACGCCTGTAATCACAGCACTTTGGAAGGCTGAGATGGGTGGATCAACTGAGGTTAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACTGGGCATGGTGTCATACCCCTGTAGTCCCAGCTACTCAAGTGAGGCATGAGAATCACTTGAACCCGGGAGGCCGAGGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAGCCTGGGCAAGAGTGAGACTCGGTCTCAAAAAAAAAAAACAAAAAACAAAAAACAAAACAAAACAACTAAATGAAAACAGTTTTGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTATTAAAAATACAGAGAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGCGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCGACAAGAGTGAAAATCCGTCCCCAAAACAACAACAAAAAAACAACAGTTTTGTGTAATACTTGATAAATATAGATATATTACATAAGTTATAAAACACAAACACCCGTGAACCCATCATCCAGGACTAGAACATTGTCAAACCCATAATCCCTTTTCCCATCCCCAGAGGTAATCACTATCTTGAATTTTATCCATCATCTTTTGCTTTTATGATAGTTTTAGCATACATATAAAAATCACTAATACAGCCTTGGCAACAGAGTGAGACCACCTCAAAAAAAAAATCACTAATACATTGTTTAATTGGTTCTTTGAACTTTAAAAAATGGTGTTGGGTGGGCATGTTGGTTCATGCCTGTAATCCCAGCATTCTGGGAGGCCAAGGTAGGCGGATAGCTTGAGCTCAGGAGTTTGAGACCAACCCAGGCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCGTGTGCCTGTTGTCCCAGCTACTTGGGAGGCTGACATGGGAGGATCACTTGAGCTTAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGGCACCATTGCACTCCAGCCTGGGTGACAGAGCGAGACCCCGTCTCAAAAGAAAGAAAATGGTGTTAAAATGGTGTGTAATCCTCTGGGACTGTTTCATTCAGGATTTGTTCAAAGTTGTCCTGTGTAACTACATGGCATAAGTGCAGTTGTGGGAGTGCACAACAGGAGACCTATGGGTCTGGAGATTGGGGAAGACCTGCCTCTGAGAGATGTGCTGTTAAGTCCTGAAAGATATGAGGGGTTAGACAGGTGAAGGGAGTGGAAAACATTCTAATAGA 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Task1_train_892 | A genetic alteration is present in RAD54L (RAD54 like) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Breast ductal adenocarcinoma | GCAAACTCCTGACCTCAGGTGATCCACTTGCCTTAACCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCCGTTGGTTTATTTAATCTTTAATAGCAACATTGGTCATTATTTCATTCTTTCATTCAACTAATATTCACTGAGCTTTGTCCTATACACTGAAATTATACAGGCGAATCTGACATAGTCTCTGCCTTAAGAAATCCTAGTCTCTGCCTAGTTGAGAAGATAAAGTACAGTAGAGTGTGATTAGTACTCTAGTATATATATTATGGATGAGGGCAGAGTGGTACAGTGTCCAGACTCAGAGTCATACAGACCTGAGTTCAAATCCCAGCTCTGCTACTTTCTACCGGCATGATTTTGGATAACTGTTTACCTCTCTGAATCTTAGTTTCTTCATCTCTAAAATGGATAATACAATTTCCATTCGTGTGGATTACAGAACAGAATACAGGTAAAGTGTTTAGTTAGTACCATGCCTACCACATTAAACGGGTTCACTAAATAGTAGCAGCCATTACGTATATAGTGCCACAGGAGCACAGAGTTGAGAGAGACAAGCAGCCTGGAGTCACTGAGGAAGGCTTTGCATAGGAGGTGACATCTGAGGAACTTGCCTGTGGAAAAGAGCTCTAGGCAGAGGGGTGGCATGGGCAAAGAGACATAAGGAAAGCCAGCATTAGGAGTGACAAGGTCAGGATTCCTGGACCGTGACAAGCTTGGAGAGTGTCAGAGAAGTTCACTGGGGCCTCATTGAGAAGGGCTTTGAATGCTAAGCTAGTGAGCTTAAAGAGCTTGGACTTGATGCTATAGATGGAAGAGTCAGTGAAGGGTCTGCATTTAATTGCGTTGTCAAAGCCTGACCCAAGGGAGCAAGACTGATTGCTGATTCTTGGTTGAGTGGTTGAGTTTTGTGTGCCTTCCCCAGTATGGGGCTGGATGTAGAAAAGGTATGGGCCTAATCTTGCCCATGTAGTTCTTGGAGAAAGAGGGAAGGTTGTCCTTTATGATTTTCTTGAAAAAGGCTTAAAAGAAGTAGTAGAGGTGTGGAGAGAATGGGAGGACAGGACAGGGAGAATAGAGATTGGGGAAGAGATGTGAAGGGAAGCAGAGGGAAGCTCTTTAGCTCTACTAGCTGTGAGGATTCTGGTGGGACATGGAGCCTGGTCCAAGTCCCTTTAACACTGATGGCCCAGACAAGGCCTGGAGTCTAATACAGAAGGCGTCTGGCTCAGAAGGTTCTGAGTTGGGTAGGCTGATGTGGAGGGGAGGACTCCCTGAAAGCATGGGTTTGTCATATGTCCACATGATCTCTGAAGAGTATAGGTGGGCTGCCAAGGCTCTGGAGGTGGGGCAGGGAAAGGGATGGAAAGGAACAGAGGGAATCTTTGCTTTATGGGTATAGCACTGGTCTGGAAACAGGAAGTCTGTCTTTTGAGCCTAATATTCTCCATAGTTAAGTGGGTGAACCCTCTCTCATGCTGCCCCCTGCCTAGTTCCCAAGGCCCTAGAACCTGTAATGTTTTTGTTTTTTGTTGAGACAGTTTCTCACTATGTCACTATAGTGGTGGCATATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGTGGGAGGATTGCAGTGCACTCACGGCTCACTGAAGCCTCGACCTCCTGGACTCAAGCGATCTTCCCATCTCAGCCTCCCAAGTAGCTGGGGCTATGGGTGTAAGCTACTATGCCCAGCTAATTTTTGTATGTTTTGTAGAGATGGGGTTTCACCACACTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGCGCCCGGCCTGGAATGTTTTTGACTCCTCTTTTCCTGTCTACATGAGACTTTGCTACCGTATAGGGAATGCCACATTGCGCTCTGAATAAGGATTCTCTTGCAGGGACACAGGCTCAAGAACTCTGAGAATCAGACTTACCAAGCCCTGGACAGCTTGAACACCAGCCGGCGGGTGCTCATCTCCGGAACTCCCATCCAGAATGATCTGCTTGAGTATTTCAGCTTGGTACATTTTGTTAATTCCGGCATCCTAGGTAAGAATCTAGCCTTGTTTGCCACATCAGAGAGGAGCCCTGCCTTGTCTTTGGGAGTATAACTCCAGCTGAGGAGAGAAAGAAGAGAATGCTAGTTATATGTGGGTCACTAGGCATTCTTGTAGGAAGGCTTCTCTTGTCAGGGAGTAGCAAAGCCATTGGGAGGCCTTGGATCTGCTGAGCAACTCAGCAAAGCCCATGTTGGCCATTTTTCCATTGCAGAGGTGGCAGGGGCTATACAGGGAATGGTGTCATGATGAGCTGAGGGTGGAATTATTATTTTTGTTCCTCAGATCCTAGCTCCCTTAGAAGAGTTTTGGCCTCAGAGCAAGCTCTGTCTTGGGCAGACGTGTGTGTTTTAAAAATCATTTTAACCATTTTTAAATGTAACAATTCAGTGGTATTAAGTACATTCACTTTGTGCAACCATCACCATCATCCATCTTCAGATTTTTTTTTTCTATTTGCTAAACTTAAAATCTACCCAATAACTCCTCTACCCTCCCCTCCCAGTGCTTTGAGAGGCTGGGGTGGGAAGATCACTTGAGGCCAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCTACAAAATAAGAAAATTAGCTGGGTGTGGTGGTGTGTGCTGGTGGTCCTAGCTATTCAGGAGGCTGTGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGGCCCTGTCTCTAAAATAGTAATAATAATCAAAACTCCTCATTCCTCCCTCCCCTAATCCCTGGCAACCACACATATATTTGTGAAAGGGTGTGTTAGTGTCACCCCAACTTGCCAGTGCTCAAGAGTAGGCAGAGAACCTGCTGAGTGGCAAGATTATGACCAAGTGAACACATTTGTGTAACCACCATCAGATGAATTACTAACACTCTCTCAGCAGCCCCTTTTCTAATCACTATCCTCTCCTTTTGTCCCGGCAGCAAACTCCTTCCTGACACTATAGGTTGGTTTTGCCTATTTTTGAATTTATGTTAATGAAATCATATAGTATGTATTCCTTTACATCTGGTTTCTTTTGTTCAACATGTTTATAAAGTTTATCCACATTATGTGTAGCAGTAGTTTGTTCATTTTCATAATTGCATACTATTGCATGTTATGAGTACACTACAATTTATTCTACTGGTTTGGTTTTGTTTGTTGAGACAGAGTCTCTGTTGCCCAGGCTGGAGTACAGCGTTGCAGTCATAGCTCACTGTACCCTCAACTTCCTGGGCTCAAGCAATCCTCCCACTTTGGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACTATTGGCTAACTTTTAAATTTTTTATAGAGATGGGGTCTCATATGTTGCTCAGGCTGGTCTTGAATTCCTGGGTTCAAATGATTCTCTTGTATCAGCCTCCCAAACTGCTGGAATTATGGGCATGAGCCCCTATGCCTGGCTTCCATCTTTTTCTGTTTGGATATCTGGTTCACCCTACATCATATATTGAAAAAACCGTTCTTTCCCCCATTGCTTTGCAGTGCTACCTTCTTCATAAATCAAATGTTCATATATGTGTTGCTCTATTTATGGACTCTATTCTGTTCCTCTGGTCCGTTTGTCTCCTTGTGTCAGTACTTCTCTGCTTTATTTACTGTGGCCTAATAAGTCTTGATATCCATTAGTGTGAATATTCCAACTATAGTCTTTTTTTTTTTTTTTTGACACAGGGTCTCGCTTTGTCACCCAGGCTGGAATGCAGTGGTGAGATCATGGCTCACTGCAGCCTTAACTTCCGGGCTCTAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACAACAGGCACACACCATCATGCCTGGCTAATTTTTGTATTTTGGGTAGAGGTGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCTTGAGCTCAAGCAATCTGCTCAGCCTCCAACTATATTCTTACTCCTTAACATTG 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GCAAACTCCTGACCTCAGGTGATCCACTTGCCTTAACCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCCGTTGGTTTATTTAATCTTTAATAGCAACATTGGTCATTATTTCATTCTTTCATTCAACTAATATTCACTGAGCTTTGTCCTATACACTGAAATTATACAGGCGAATCTGACATAGTCTCTGCCTTAAGAAATCCTAGTCTCTGCCTAGTTGAGAAGATAAAGTACAGTAGAGTGTGATTAGTACTCTAGTATATATATTATGGATGAGGGCAGAGTGGTACAGTGTCCAGACTCAGAGTCATACAGACCTGAGTTCAAATCCCAGCTCTGCTACTTTCTACCGGCATGATTTTGGATAACTGTTTACCTCTCTGAATCTTAGTTTCTTCATCTCTAAAATGGATAATACAATTTCCATTCGTGTGGATTACAGAACAGAATACAGGTAAAGTGTTTAGTTAGTACCATGCCTACCACATTAAACGGGTTCACTAAATAGTAGCAGCCATTACGTATATAGTGCCACAGGAGCACAGAGTTGAGAGAGACAAGCAGCCTGGAGTCACTGAGGAAGGCTTTGCATAGGAGGTGACATCTGAGGAACTTGCCTGTGGAAAAGAGCTCTAGGCAGAGGGGTGGCATGGGCAAAGAGACATAAGGAAAGCCAGCATTAGGAGTGACAAGGTCAGGATTCCTGGACCGTGACAAGCTTGGAGAGTGTCAGAGAAGTTCACTGGGGCCTCATTGAGAAGGGCTTTGAATGCTAAGCTAGTGAGCTTAAAGAGCTTGGACTTGATGCTATAGATGGAAGAGTCAGTGAAGGGTCTGCATTTAATTGCGTTGTCAAAGCCTGACCCAAGGGAGCAAGACTGATTGCTGATTCTTGGTTGAGTGGTTGAGTTTTGTGTGCCTTCCCCAGTATGGGGCTGGATGTAGAAAAGGTATGGGCCTAATCTTGCCCATGTAGTTCTTGGAGAAAGAGGGAAGGTTGTCCTTTATGATTTTCTTGAAAAAGGCTTAAAAGAAGTAGTAGAGGTGTGGAGAGAATGGGAGGACAGGACAGGGAGAATAGAGATTGGGGAAGAGATGTGAAGGGAAGCAGAGGGAAGCTCTTTAGCTCTACTAGCTGTGAGGATTCTGGTGGGACATGGAGCCTGGTCCAAGTCCCTTTAACACTGATGGCCCAGACAAGGCCTGGAGTCTAATACAGAAGGCGTCTGGCTCAGAAGGTTCTGAGTTGGGTAGGCTGATGTGGAGGGGAGGACTCCCTGAAAGCATGGGTTTGTCATATGTCCACATGATCTCTGAAGAGTATAGGTGGGCTGCCAAGGCTCTGGAGGTGGGGCAGGGAAAGGGATGGAAAGGAACAGAGGGAATCTTTGCTTTATGGGTATAGCACTGGTCTGGAAACAGGAAGTCTGTCTTTTGAGCCTAATATTCTCCATAGTTAAGTGGGTGAACCCTCTCTCATGCTGCCCCCTGCCTAGTTCCCAAGGCCCTAGAACCTGTAATGTTTTTGTTTTTTGTTGAGACAGTTTCTCACTATGTCACTATAGTGGTGGCATATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGTGGGAGGATTGCAGTGCACTCACGGCTCACTGAAGCCTCGACCTCCTGGACTCAAGCGATCTTCCCATCTCAGCCTCCCAAGTAGCTGGGGCTATGGGTGTAAGCTACTATGCCCAGCTAATTTTTGTATGTTTTGTAGAGATGGGGTTTCACCACACTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGCGCCCGGCCTGGAATGTTTTTGACTCCTCTTTTCCTGTCTACATGAGACTTTGCTACCGTATAGGGAATGCCACATTGCGCTCTGAATAAGGATTCTCTTGCAGGGACACAGGCTCAAGAACTCTGAGAATCAGACTTACCAAGCCCTGGACAGCTTGAACACCAGCCGGCGGGTGCTCATCTCCAGAACTCCCATCCAGAATGATCTGCTTGAGTATTTCAGCTTGGTACATTTTGTTAATTCCGGCATCCTAGGTAAGAATCTAGCCTTGTTTGCCACATCAGAGAGGAGCCCTGCCTTGTCTTTGGGAGTATAACTCCAGCTGAGGAGAGAAAGAAGAGAATGCTAGTTATATGTGGGTCACTAGGCATTCTTGTAGGAAGGCTTCTCTTGTCAGGGAGTAGCAAAGCCATTGGGAGGCCTTGGATCTGCTGAGCAACTCAGCAAAGCCCATGTTGGCCATTTTTCCATTGCAGAGGTGGCAGGGGCTATACAGGGAATGGTGTCATGATGAGCTGAGGGTGGAATTATTATTTTTGTTCCTCAGATCCTAGCTCCCTTAGAAGAGTTTTGGCCTCAGAGCAAGCTCTGTCTTGGGCAGACGTGTGTGTTTTAAAAATCATTTTAACCATTTTTAAATGTAACAATTCAGTGGTATTAAGTACATTCACTTTGTGCAACCATCACCATCATCCATCTTCAGATTTTTTTTTTCTATTTGCTAAACTTAAAATCTACCCAATAACTCCTCTACCCTCCCCTCCCAGTGCTTTGAGAGGCTGGGGTGGGAAGATCACTTGAGGCCAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCTACAAAATAAGAAAATTAGCTGGGTGTGGTGGTGTGTGCTGGTGGTCCTAGCTATTCAGGAGGCTGTGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGGCCCTGTCTCTAAAATAGTAATAATAATCAAAACTCCTCATTCCTCCCTCCCCTAATCCCTGGCAACCACACATATATTTGTGAAAGGGTGTGTTAGTGTCACCCCAACTTGCCAGTGCTCAAGAGTAGGCAGAGAACCTGCTGAGTGGCAAGATTATGACCAAGTGAACACATTTGTGTAACCACCATCAGATGAATTACTAACACTCTCTCAGCAGCCCCTTTTCTAATCACTATCCTCTCCTTTTGTCCCGGCAGCAAACTCCTTCCTGACACTATAGGTTGGTTTTGCCTATTTTTGAATTTATGTTAATGAAATCATATAGTATGTATTCCTTTACATCTGGTTTCTTTTGTTCAACATGTTTATAAAGTTTATCCACATTATGTGTAGCAGTAGTTTGTTCATTTTCATAATTGCATACTATTGCATGTTATGAGTACACTACAATTTATTCTACTGGTTTGGTTTTGTTTGTTGAGACAGAGTCTCTGTTGCCCAGGCTGGAGTACAGCGTTGCAGTCATAGCTCACTGTACCCTCAACTTCCTGGGCTCAAGCAATCCTCCCACTTTGGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACTATTGGCTAACTTTTAAATTTTTTATAGAGATGGGGTCTCATATGTTGCTCAGGCTGGTCTTGAATTCCTGGGTTCAAATGATTCTCTTGTATCAGCCTCCCAAACTGCTGGAATTATGGGCATGAGCCCCTATGCCTGGCTTCCATCTTTTTCTGTTTGGATATCTGGTTCACCCTACATCATATATTGAAAAAACCGTTCTTTCCCCCATTGCTTTGCAGTGCTACCTTCTTCATAAATCAAATGTTCATATATGTGTTGCTCTATTTATGGACTCTATTCTGTTCCTCTGGTCCGTTTGTCTCCTTGTGTCAGTACTTCTCTGCTTTATTTACTGTGGCCTAATAAGTCTTGATATCCATTAGTGTGAATATTCCAACTATAGTCTTTTTTTTTTTTTTTTGACACAGGGTCTCGCTTTGTCACCCAGGCTGGAATGCAGTGGTGAGATCATGGCTCACTGCAGCCTTAACTTCCGGGCTCTAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACAACAGGCACACACCATCATGCCTGGCTAATTTTTGTATTTTGGGTAGAGGTGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCTTGAGCTCAAGCAATCTGCTCAGCCTCCAACTATATTCTTACTCCTTAACATTG 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Task1_train_893 | The gene RAD54L (RAD54 like) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Non-Hodgkin lymphoma | GAGACGCTGCTGCTAGTGAGGCAGACAGGCAGCTAGGAGAGGAGCGGCTGCGGGAGCTCACCAGCATTGTGAATAGGTAATGACCTTAAGCGAAGTCATTAGAATTGCCTCCCAAACCATCCATGGCCAATCCTTTGGGGGCTTTGCCTCTCTAGAGCCCTCAAAGGCTGGGATTCTAGGAAGGGAGTGGGTTCTGTGTCCTAACTATGGCCACTGAATAAACAAGGGAGTCTTGGAGGTGAAGTGCCTGCTTTCTTTCTGGCTTGGGCTCTGTGGTCTGGTTTTGGTCTGTTTATCAGCCTGCTGAGGAAGCTTTTCTCTGATGCTGCTGGACTTCTTGAGCAAAGTATACCTTGGAGCATTACTAGTATTTCAGAAGCTTCCTGTCAGTTGGTCTCAGACCCGAAACATTAGGCTTCTCTTCCCAGGCCCCATAGTCATTCTGTGACAGGTAGGAGAAGATCTGAAAGGTGGTTGTGGCTCCCAGGCTAAGGGGACTGACTTTTTCATGGGAGTTACATAACCCAGAGGGTAGGCACATTCTGGACTCCTTTGTCCAGAGGTGGTATGCACACTTGATAGGTTACATTCTAAAGAGTCCTCCTGCCCTTCCCAACAACTGCCTGGCTACCTGGCTACCTCTCCCTACCAATTTTAGATGGCAGGACGGGCATGGTGGCTCACGCCTATAATCCCACCACTTTGGGAAGCTGAGGCGAGTGGATCACTTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACTCCCATCTCTACTAAATATACAGAAATTAGCTGGGTGTGGTTGGGGTGCACCTGTAGTCCCGGTTACTCTGGAGGGAGAGGCTGGAGAATCGCTTGAACTCGAGAGGCAGAGGTTGGAGTGAGCTGAGCTGCGCCACTGCACCCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAATTAGATGGCAGGAAGAAGAATTGGTGTTTTCTTAAGATCTGCTTCTTAGGTGCCTGATACCTATCCTTCATAGTCTTCCCAGGAGGTCTATGCTTAATTTCATTTAGCCTGGGGCCATGTAGCAGCGGGCATTTGGACAAATGCAAGCAGAAACTCCCCTAAGGACTTAGTAATTTACAACTTGCTTTTCCTGTTAGAGCTCCTGTATCAATGGGAAGCCTCAGTCTTCTCTTGAAGACTAGGCAACCTATTGAAGGGGAAGAGAAAGTGCTGCCTGTCTAAGCTAGCATGTTTGGAAGGTCTCTGTTCCCACAATTGAGACCCTGATACAGATGTGTTTGACATAGGTCTGATGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTTGTTGCCCAAGCTGGAATGCAATGGGGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGTTTACAGGTGCCTGCCACCACACTTGGCTAATTTTCGTATTTTTAGTAGAGATGGGGTTTCTCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCACAGGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACTGCGCCTGGCCGAGTCTCTGACATTTAATACTGTAAAAGAGGGCTAGTCTTGGTCCTTTGGGTGGTAGCTTTTATTCCAGTAGTTAGCATGGCAATTTTACCAGCCTCTTGCCTTTTTATCCTGTTTTCTCTAGATGCCTGATACGGAGGACTTCTGATATCCTTTCTAAATATCTGCCTGTGAAGATTGAGCAGGTCGTTTGTTGTAGGTACTGAACTCAACTGAAAGATGTGGAGTGGGTCAAAGCCTAGCTCCTGAAGCATGGCTGGGCTCTCAAGGTGTTCTCAGAGGGCAGGAGGGTGGTCTAGCTTTTTCCACTGACCCAGCTGCCTTTTTTAGGCTGACACCCCTTCAGACTGAGTTATACAAGAGGTTTCTGAGACAAGCCAAACCGGCAGAAGAATTGCTTGAGGGCAAGATGAGTGTGTCTTCCCTTTCTTCCATCACCTCGCTAAAGAAGCTTTGTAATCGTGAGTTGGGCTTGTGTCCTGGTGTCCTCTGTGAGAGTGAGCAAGGGAGGGTAGGTTCCTGTAGTGGCCTGGCAACCCTCACTAAAACTCGTCCAGAGTCATCCTCATAGAGGCCACATGTGATTCCAACCCTACCCAAGGCATGAACCCTGCATTGTGGAGTCTGTTTACCAGACCCTTTGCTTTGGAAAATTGAACTCATCTTCTGTCCAGCCCATGCTTGATGACCTGGGATGTGTCGACTGTTTGTGAGTGCTTGCATGTACACACGCTCATATACAATGTTGGGCAGGAGGAAAAATAACAAAGAAACCTTGCCTGCTCTGTTATAGCTCCCTTCTTGTTGGGAGAACACATTAGTGAGTGAGATTGTCCATCCATCGTCCCAGATGGCACCGACTATATCCTGTTGGAATTTGGTAGGATGAAGATCAAGCAAGTCTGATGTTGAGGAAGGCCTTTTGGGCTAGGCTTCTAGAGGGAGTTCTAGTGAACACTGAAGTGGAAACTTCAGAAAGCAAAGTATCTGGGTTTTGTTTTGTTTTCTCCCAGATCCAGCTCTAATCTATGATAAGTGTGTGGAAGAGGAGGATGGCTTTGTGGGTGCCTTGGACCTCTTCCCTCCTGGTTACAGCTCTAAGGCCCTGGAGCCCCAGCTGTCAGGTGACCCTTTTCCTACCAGTATTTGGGCTTCTCTAGGAGGAGGGTGGGAGATTTTTTTTTGTGCTAGGGCTGTCCTGTTTCAAGGCAGGATATCAAGAGTAAGAAGCCTGGGCCATTGGGACAGCCAGTAGGGGACTGCTGGTTGCTGCTCTTCCCAGGTAAGATGCTGGTCCTGGATTATATTCTGGCGGTGACCCGAAGCCGTAGCAGTGACAAAGTAGTGCTGGTGTCGAATTACACCCAGACTTTGGATCTCTTTGAGAAGCTGTGCCGTGCCCGAAGGTAGGGAAGATCCTAACCAGGATGCCAAAGGGGGATATACCCCTCCCCTACTGTCTGTCTAGTTCTGATTTGTGGATGTGGGCCAAGATCTGGGCACATAAGGGCTTTCCCTGGAGATATCTTCCCTTATTGCTATGATGGCCTCAGCTCTATCTCCAAGTAGAAGATCCCCTAGTCCTTCAGGTACTCCCTTAGGAAAGAGTCTTGGCCTCTAGCTCCCTGCCCCTGCCTTTGGGAGCTTAGGGCCTCAAGCATGGTTATTTCAGTCCCTTCAGTGGCTCTCCAAGGGACTCTGCTTTCTTGGGTCTTTTTAAAAAAATTTTTATTTTTAATTTTTTTTCCCCCTAATCATTGAAGCTTTATTTTCTTGGGTCTCGAATCCCCCTTCAGGTACTTATACGTCCGCCTGGATGGCACGATGTCCATTAAGAAGCGAGCCAAGGTTGTAGAACGCTTCAATAGTCCATCGGTAAATGCACATCCCCGTCCCCACACCACCAATGCAGTATCATCAGAATTAAGGAATGATAGAGAAGCTATAAGGGGTTACCTTGATTTTTTTTTTTTTTAATTCCCCTAGTGGATATAGTAGGATTTGTCTGGTTGGTGATGGCTGGGCTGGAAACTGACTGTGTGTGTTGGGATTGGCTGGCTGGTGAGCAGATAAACTGGTGGTTTTCACAATTGGTACTGAGTAGTATAGAGGCATGAGGGAGGAGCTGGTTGGGCTGAGCAGGATCCCAGTTTAGGCTATAAGAGGTTCCTTTTCTCCTGTTTCTTCTCTTTCCAGAGCCCTGACTTTGTCTTCATGCTGAGCAGCAAAGCTGGGGGCTGTGGCCTCAATCTCATTGGGGCTAACCGGCTGGTCATGTTTGACCCTGACTGGAACCCAGCCAATGATGAACAAGCCATGGCCCGGGTCTGGCGAGATGGTCAAAAGAAGACTTGCTATATCTACCGCCTGCTGTCTGTAAGGATGGTGATAGTAGTCATAGTAGGGGTGGGTCATGGAACGAGATCTTCAGGACCATCTTGTTCCTTAGTGCCTCTCTTTGGCC 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GAGACGCTGCTGCTAGTGAGGCAGACAGGCAGCTAGGAGAGGAGCGGCTGCGGGAGCTCACCAGCATTGTGAATAGGTAATGACCTTAAGCGAAGTCATTAGAATTGCCTCCCAAACCATCCATGGCCAATCCTTTGGGGGCTTTGCCTCTCTAGAGCCCTCAAAGGCTGGGATTCTAGGAAGGGAGTGGGTTCTGTGTCCTAACTATGGCCACTGAATAAACAAGGGAGTCTTGGAGGTGAAGTGCCTGCTTTCTTTCTGGCTTGGGCTCTGTGGTCTGGTTTTGGTCTGTTTATCAGCCTGCTGAGGAAGCTTTTCTCTGATGCTGCTGGACTTCTTGAGCAAAGTATACCTTGGAGCATTACTAGTATTTCAGAAGCTTCCTGTCAGTTGGTCTCAGACCCGAAACATTAGGCTTCTCTTCCCAGGCCCCATAGTCATTCTGTGACAGGTAGGAGAAGATCTGAAAGGTGGTTGTGGCTCCCAGGCTAAGGGGACTGACTTTTTCATGGGAGTTACATAACCCAGAGGGTAGGCACATTCTGGACTCCTTTGTCCAGAGGTGGTATGCACACTTGATAGGTTACATTCTAAAGAGTCCTCCTGCCCTTCCCAACAACTGCCTGGCTACCTGGCTACCTCTCCCTACCAATTTTAGATGGCAGGACGGGCATGGTGGCTCACGCCTATAATCCCACCACTTTGGGAAGCTGAGGCGAGTGGATCACTTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACTCCCATCTCTACTAAATATACAGAAATTAGCTGGGTGTGGTTGGGGTGCACCTGTAGTCCCGGTTACTCTGGAGGGAGAGGCTGGAGAATCGCTTGAACTCGAGAGGCAGAGGTTGGAGTGAGCTGAGCTGCGCCACTGCACCCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAATTAGATGGCAGGAAGAAGAATTGGTGTTTTCTTAAGATCTGCTTCTTAGGTGCCTGATACCTATCCTTCATAGTCTTCCCAGGAGGTCTATGCTTAATTTCATTTAGCCTGGGGCCATGTAGCAGCGGGCATTTGGACAAATGCAAGCAGAAACTCCCCTAAGGACTTAGTAATTTACAACTTGCTTTTCCTGTTAGAGCTCCTGTATCAATGGGAAGCCTCAGTCTTCTCTTGAAGACTAGGCAACCTATTGAAGGGGAAGAGAAAGTGCTGCCTGTCTAAGCTAGCATGTTTGGAAGGTCTCTGTTCCCACAATTGAGACCCTGATACAGATGTGTTTGACATAGGTCTGATGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTTGTTGCCCAAGCTGGAATGCAATGGGGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGTTTACAGGTGCCTGCCACCACACTTGGCTAATTTTCGTATTTTTAGTAGAGATGGGGTTTCTCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCACAGGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACTGCGCCTGGCCGAGTCTCTGACATTTAATACTGTAAAAGAGGGCTAGTCTTGGTCCTTTGGGTGGTAGCTTTTATTCCAGTAGTTAGCATGGCAATTTTACCAGCCTCTTGCCTTTTTATCCTGTTTTCTCTAGATGCCTGATACGGAGGACTTCTGATATCCTTTCTAAATATCTGCCTGTGAAGATTGAGCAGGTCGTTTGTTGTAGGTACTGAACTCAACTGAAAGATGTGGAGTGGGTCAAAGCCTAGCTCCTGAAGCATGGCTGGGCTCTCAAGGTGTTCTCAGAGGGCAGGAGGGTGGTCTAGCTTTTTCCACTGACCCAGCTGCCTTTTTTAGGCTGACACCCCTTCAGACTGAGTTATACAAGAGGTTTCTGAGACAAGCCAAACCGGCAGAAGAATTGCTTGAGGGCAAGATGAGTGAGTCTTCCCTTTCTTCCATCACCTCGCTAAAGAAGCTTTGTAATCGTGAGTTGGGCTTGTGTCCTGGTGTCCTCTGTGAGAGTGAGCAAGGGAGGGTAGGTTCCTGTAGTGGCCTGGCAACCCTCACTAAAACTCGTCCAGAGTCATCCTCATAGAGGCCACATGTGATTCCAACCCTACCCAAGGCATGAACCCTGCATTGTGGAGTCTGTTTACCAGACCCTTTGCTTTGGAAAATTGAACTCATCTTCTGTCCAGCCCATGCTTGATGACCTGGGATGTGTCGACTGTTTGTGAGTGCTTGCATGTACACACGCTCATATACAATGTTGGGCAGGAGGAAAAATAACAAAGAAACCTTGCCTGCTCTGTTATAGCTCCCTTCTTGTTGGGAGAACACATTAGTGAGTGAGATTGTCCATCCATCGTCCCAGATGGCACCGACTATATCCTGTTGGAATTTGGTAGGATGAAGATCAAGCAAGTCTGATGTTGAGGAAGGCCTTTTGGGCTAGGCTTCTAGAGGGAGTTCTAGTGAACACTGAAGTGGAAACTTCAGAAAGCAAAGTATCTGGGTTTTGTTTTGTTTTCTCCCAGATCCAGCTCTAATCTATGATAAGTGTGTGGAAGAGGAGGATGGCTTTGTGGGTGCCTTGGACCTCTTCCCTCCTGGTTACAGCTCTAAGGCCCTGGAGCCCCAGCTGTCAGGTGACCCTTTTCCTACCAGTATTTGGGCTTCTCTAGGAGGAGGGTGGGAGATTTTTTTTTGTGCTAGGGCTGTCCTGTTTCAAGGCAGGATATCAAGAGTAAGAAGCCTGGGCCATTGGGACAGCCAGTAGGGGACTGCTGGTTGCTGCTCTTCCCAGGTAAGATGCTGGTCCTGGATTATATTCTGGCGGTGACCCGAAGCCGTAGCAGTGACAAAGTAGTGCTGGTGTCGAATTACACCCAGACTTTGGATCTCTTTGAGAAGCTGTGCCGTGCCCGAAGGTAGGGAAGATCCTAACCAGGATGCCAAAGGGGGATATACCCCTCCCCTACTGTCTGTCTAGTTCTGATTTGTGGATGTGGGCCAAGATCTGGGCACATAAGGGCTTTCCCTGGAGATATCTTCCCTTATTGCTATGATGGCCTCAGCTCTATCTCCAAGTAGAAGATCCCCTAGTCCTTCAGGTACTCCCTTAGGAAAGAGTCTTGGCCTCTAGCTCCCTGCCCCTGCCTTTGGGAGCTTAGGGCCTCAAGCATGGTTATTTCAGTCCCTTCAGTGGCTCTCCAAGGGACTCTGCTTTCTTGGGTCTTTTTAAAAAAATTTTTATTTTTAATTTTTTTTCCCCCTAATCATTGAAGCTTTATTTTCTTGGGTCTCGAATCCCCCTTCAGGTACTTATACGTCCGCCTGGATGGCACGATGTCCATTAAGAAGCGAGCCAAGGTTGTAGAACGCTTCAATAGTCCATCGGTAAATGCACATCCCCGTCCCCACACCACCAATGCAGTATCATCAGAATTAAGGAATGATAGAGAAGCTATAAGGGGTTACCTTGATTTTTTTTTTTTTTAATTCCCCTAGTGGATATAGTAGGATTTGTCTGGTTGGTGATGGCTGGGCTGGAAACTGACTGTGTGTGTTGGGATTGGCTGGCTGGTGAGCAGATAAACTGGTGGTTTTCACAATTGGTACTGAGTAGTATAGAGGCATGAGGGAGGAGCTGGTTGGGCTGAGCAGGATCCCAGTTTAGGCTATAAGAGGTTCCTTTTCTCCTGTTTCTTCTCTTTCCAGAGCCCTGACTTTGTCTTCATGCTGAGCAGCAAAGCTGGGGGCTGTGGCCTCAATCTCATTGGGGCTAACCGGCTGGTCATGTTTGACCCTGACTGGAACCCAGCCAATGATGAACAAGCCATGGCCCGGGTCTGGCGAGATGGTCAAAAGAAGACTTGCTATATCTACCGCCTGCTGTCTGTAAGGATGGTGATAGTAGTCATAGTAGGGGTGGGTCATGGAACGAGATCTTCAGGACCATCTTGTTCCTTAGTGCCTCTCTTTGGCC 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Task1_train_894 | The following genetic variant occurs in STIL (STIL centriolar assembly protein) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Microcephaly 7, primary, autosomal recessive | AGGCAATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACATGTGTGCACCACCGTGCCCAGTTACAGGTAAGAGTCACTGAGCCTAGCCTACGATCCTTATTTAATGGAAAATTTCATAATGAAAAATTTCAAACATGAGAGAATTATTTTACAAATCACCATATACAATCAGTTTCAAAAATTACCAAATAGCCAATCTTATTTCATTTATACTCCTAGCCATTTCATTCTCCCACAGAATTAATTTGAAGCAAATCTCAGATAACATTTCATATATAAATATTAAGGTTCTATCACTCAAAAATAGACTCTTTTATATATAATGGCAATACGGAGAATCTTTAGAAATCTCGCCATCTCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGGATCACCTCAGGTGAGGAGTTCCAGATCAGCCTGGCCAACATGGGAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCTCAAGAATGCCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACAGTGCCATTGCACTCCAGCCTGGGTGAAAAAGCGAGACTCTTGTCTCAAAAAATAAATACATAAAATAAAATAGGCTGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTAGGAGGTCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCACGACCAGCCTGGCCAACACGGCGAAACCCCATCTCTAAAAAAAATACAAACAAAATTAGCCCAGCATGGTGGCAGGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGGGATTGCAGTGAGTCAAGATCGCACCATTGCACTCTAGACTGAGCAACAAGAGAGAAACTCCATCTCATAAATAAATAAATAAATAAATAAATAAATAAATTAAATAAAAGAAATTTCTCCGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAACACGGAATTAGCCGGGCATGGTGGCAGGAGCCTGTAGTCCCAGCTACACGGGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGATTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCCGTCAAAAAAAAAAAAAAAAAAATTTCTCCATCTGTATCTGGAACCTAATATTATCAGATCCTCTAGGGTGAGGCCTGAGCTTGTGTATTTTTGAAGTTTTCTTCCGATTTCTGATTCATCCAGACTGTTAATATAGCCAAAGACTGACATCTGGAAATGGTTCTAGAAGGCTCAGAGTTGTCAGTTACATAGAAATCATATCAAGTAAAGACATAAAAGAAAATACCAGTTAGAAAATATATCATTTCTGAGTTAGAAGACTTTAAAGAAATTAGAATTAAAAACAAAAAAAAACCTGAACAGAACAGCAACTGTAATGAATAATAATACATTGTATATTTCAAAATTGCTAATAGTAGACTTCAAATGTTTTTACCACAGAAAAAGTTAAGTATGTGAAGTGATAGATTTGTTGGTCTGATTTAATCATTCCATACTGTAAACATGCATCTAAACATTGTGCCCCACAAATATATACAATTATTATTTGTCTATCAAAAAAAATTTTTTTTGAAAGTAGGATGAAAGACTAAATCAAAGAGACCTTACTTGGATACAGAAAGTGGCTGGTTAAATTCTTCTTCCACAGCAATGTTGCTCTCTTCAAAACTGGGAATATCAACTGCTTTTAATGAAGATGCACTACCTGGAAGACTTGTGACTTCATTATTAATATCGACAGAAAAATTCATGTCCTCACTGGAAATTTTGGTATCATCTTGCTTCATTTGAGAGTCAGGCTCTTGATCCTCACCTGCTGCATTCCAAAACAAGCTAGCACCTGGAGGTTAAATAATTTAAGATACTGAAACAAACATTCAACTTTAAAAATAATACTCTGCCAAACCTTTGTTAAGAATAGCCATATTGGCTGGGTGCAATGGCTCACGCCTATAATCCCAACACTTTGAGAGGCAGAGGCGGGAGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAATCCTGTCTCTACAAAAAAAATACAAAAAAATTAGCCAGGTGTGGTGGTGTGCCTGTAGTCCCATCTACTCAGGAGGCAGAGGTGTAAGATCACTTGAGCCCAGGAGGTCGATGCTGCAATGAGCTGTGATTGTGCTACTGCATTCCAGCCTGGGCAACTCTGGCTCAAAAAAAAAAAAAAATATATATATATATACACACACACACACACACACACACACACACACACACACAATTACTTAGAACTAAGTTTTTAGATTATATTTCCTCAGAAATGCCAGGAAGAGGTAGGTGGAAGACAGAAAGACAAAACACTAGGGGACGGGTCGGGTGGAAGGGCACATTCTGGGTTCTGCTTTTTCAAGAAGGGTGGCTCTGAAATGATTTGCTTTACATATTAAGATTCTGAATATGATCCGTGGGATGGGGTGTGTATGTTGAAAACTGCTGCTCTGAATAATATGAGATAATATATAAAATACAAATCCCTAGGTTCTCTGGTTTTGACACTTAAATGCAATATTTAAAAGACTACATTGGTGATGCATCAGACATCTGTAATATCTGTAATATCAGGCAGGTATTAAAAAAAATCAAGTGTTTCCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTGTCACTTTGTTGCTCAGGCTGGAGTGCAGTGACACAATCACAGCTCACTGCAGCCTCAACGTCCCTGGGCTCAGGTGATCCTCCCACCTCAGCTTCCCGAGTAGCTGGGACTGCAGGTGTGCGCCACCATATGTGGCTAATTTTTGTATTTTTTTTAAAGATGGGGCTTCATCATTTTGACCAGGCTGGTCTCGAACTCCTAGCATCAGGCAATCCACCTGCCTTGACCTCCCAAAGTGCAAACATTATAGGCATGAGCCACTGCGCCCAGCCAATTTCTCAATCTTTATGAAGCACTTACACCTATCTTCAGAGCTATTTGCATGTAATATTGTTTACTTACTCTTTCTTTAAATTAACTCTTTTTTTACTGAGCCTCATTATTTCTCTAAAATCACAGATTTGATATGCTTATTGTATTTATACCTATGAGTATTGGAAAAGATATATTTACAAAATATAAATATTAATCTGTATAACACCCTAAATCATCTTTTGTACCACGAGCCATAGGCATTCTATAATTTGGGGAATATTGCTAATACATAATGGTTTAAACAGATGGTTAAAACCAAAAAGTAGCCTGGGCACAGTGGCTCATGCCTGTAATACAATCCCAGCCCTTTGGGAGGCTGAGGTGGGTGGATCATGCGGTCAGGAGTTGGAGACCAGCCTGACCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCTTGTAGTCCCAGCTACTCAGGAAAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACTATGCCATTGCACTCCAGCCTGTGTGACGGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGTAAATCATAGTCAAAATGGTTTCTACTCTGAGGATATACTTGGGTGATTTTATGAAAATAAATTAATACAAACAAGACTGGCTGGACGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGACAGGAGGATTGCTTGAACCTAGGATGGTGGAGGTTGCAGTGAGCTGAGAGTGCACCACACTGCACTCTAGCTTGGGCAACACAGCGAGACTCCATTTCAAAAAAAAAAACAAAAAACAAAAAAAAAACCAGAATTGGGTCCAGCCTAGAAAAGTAGCAAAATCAAACACTTTATCATGTTATGCAGTTTGCAGG 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AGGCAATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACATGTGTGCACCACCGTGCCCAGTTACAGGTAAGAGTCACTGAGCCTAGCCTACGATCCTTATTTAATGGAAAATTTCATAATGAAAAATTTCAAACATGAGAGAATTATTTTACAAATCACCATATACAATCAGTTTCAAAAATTACCAAATAGCCAATCTTATTTCATTTATACTCCTAGCCATTTCATTCTCCCACAGAATTAATTTGAAGCAAATCTCAGATAACATTTCATATATAAATATTAAGGTTCTATCACTCAAAAATAGACTCTTTTATATATAATGGCAATACGGAGAATCTTTAGAAATCTCGCCATCTCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGGATCACCTCAGGTGAGGAGTTCCAGATCAGCCTGGCCAACATGGGAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCTCAAGAATGCCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACAGTGCCATTGCACTCCAGCCTGGGTGAAAAAGCGAGACTCTTGTCTCAAAAAATAAATACATAAAATAAAATAGGCTGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTAGGAGGTCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCACGACCAGCCTGGCCAACACGGCGAAACCCCATCTCTAAAAAAAATACAAACAAAATTAGCCCAGCATGGTGGCAGGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGGGATTGCAGTGAGTCAAGATCGCACCATTGCACTCTAGACTGAGCAACAAGAGAGAAACTCCATCTCATAAATAAATAAATAAATAAATAAATAAATAAATTAAATAAAAGAAATTTCTCCGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAACACGGAATTAGCCGGGCATGGTGGCAGGAGCCTGTAGTCCCAGCTACACGGGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGATTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCCGTCAAAAAAAAAAAAAAAAAAATTTCTCCATCTGTATCTGGAACCTAATATTATCAGATCCTCTAGGGTGAGGCCTGAGCTTGTGTATTTTTGAAGTTTTCTTCCGATTTCTGATTCATCCAGACTGTTAATATAGCCAAAGACTGACATCTGGAAATGGTTCTAGAAGGCTCAGAGTTGTCAGTTACATAGAAATCATATCAAGTAAAGACATAAAAGAAAATACCAGTTAGAAAATATATCATTTCTGAGTTAGAAGACTTTAAAGAAATTAGAATTAAAAACAAAAAAAAACCTGAACAGAACAGCAACTGTAATGAATAATAATACATTGTATATTTCAAAATTGCTAATAGTAGACTTCAAATGTTTTTACCACAGAAAAAGTTAAGTATGTGAAGTGATAGATTTGTTGGTCTGATTTAATCATTCCATACTGTAAACATGCATCTAAACATTGTGCCCCACAAATATATACAATTATTATTTGTCTATCAAAAAAAATTTTTTTTGAAAGTAGGATGAAAGACTAAATCAAAGAGACCTTACTTGGATACAGAAAGTGGCTGGTTAAATTCTTCTTCCACAGCAATGTTGCTCTCTTCAAAACTGGGAATATCAACTGCTTTTAATGAAGATGCACTACCTGGAAGACTTGTGACTTCATTATTAATATCGACAGAAAAATTCATGTCCTCACTGGAAATTTTGGTATCATCTTGCTTCATTTGAGAGTCAGGCTCTTGATCCTCACCTGCTGCATTCCAAAACCAGCTAGCACCTGGAGGTTAAATAATTTAAGATACTGAAACAAACATTCAACTTTAAAAATAATACTCTGCCAAACCTTTGTTAAGAATAGCCATATTGGCTGGGTGCAATGGCTCACGCCTATAATCCCAACACTTTGAGAGGCAGAGGCGGGAGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAATCCTGTCTCTACAAAAAAAATACAAAAAAATTAGCCAGGTGTGGTGGTGTGCCTGTAGTCCCATCTACTCAGGAGGCAGAGGTGTAAGATCACTTGAGCCCAGGAGGTCGATGCTGCAATGAGCTGTGATTGTGCTACTGCATTCCAGCCTGGGCAACTCTGGCTCAAAAAAAAAAAAAAATATATATATATATACACACACACACACACACACACACACACACACACACACAATTACTTAGAACTAAGTTTTTAGATTATATTTCCTCAGAAATGCCAGGAAGAGGTAGGTGGAAGACAGAAAGACAAAACACTAGGGGACGGGTCGGGTGGAAGGGCACATTCTGGGTTCTGCTTTTTCAAGAAGGGTGGCTCTGAAATGATTTGCTTTACATATTAAGATTCTGAATATGATCCGTGGGATGGGGTGTGTATGTTGAAAACTGCTGCTCTGAATAATATGAGATAATATATAAAATACAAATCCCTAGGTTCTCTGGTTTTGACACTTAAATGCAATATTTAAAAGACTACATTGGTGATGCATCAGACATCTGTAATATCTGTAATATCAGGCAGGTATTAAAAAAAATCAAGTGTTTCCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTGTCACTTTGTTGCTCAGGCTGGAGTGCAGTGACACAATCACAGCTCACTGCAGCCTCAACGTCCCTGGGCTCAGGTGATCCTCCCACCTCAGCTTCCCGAGTAGCTGGGACTGCAGGTGTGCGCCACCATATGTGGCTAATTTTTGTATTTTTTTTAAAGATGGGGCTTCATCATTTTGACCAGGCTGGTCTCGAACTCCTAGCATCAGGCAATCCACCTGCCTTGACCTCCCAAAGTGCAAACATTATAGGCATGAGCCACTGCGCCCAGCCAATTTCTCAATCTTTATGAAGCACTTACACCTATCTTCAGAGCTATTTGCATGTAATATTGTTTACTTACTCTTTCTTTAAATTAACTCTTTTTTTACTGAGCCTCATTATTTCTCTAAAATCACAGATTTGATATGCTTATTGTATTTATACCTATGAGTATTGGAAAAGATATATTTACAAAATATAAATATTAATCTGTATAACACCCTAAATCATCTTTTGTACCACGAGCCATAGGCATTCTATAATTTGGGGAATATTGCTAATACATAATGGTTTAAACAGATGGTTAAAACCAAAAAGTAGCCTGGGCACAGTGGCTCATGCCTGTAATACAATCCCAGCCCTTTGGGAGGCTGAGGTGGGTGGATCATGCGGTCAGGAGTTGGAGACCAGCCTGACCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCTTGTAGTCCCAGCTACTCAGGAAAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACTATGCCATTGCACTCCAGCCTGTGTGACGGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGTAAATCATAGTCAAAATGGTTTCTACTCTGAGGATATACTTGGGTGATTTTATGAAAATAAATTAATACAAACAAGACTGGCTGGACGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGACAGGAGGATTGCTTGAACCTAGGATGGTGGAGGTTGCAGTGAGCTGAGAGTGCACCACACTGCACTCTAGCTTGGGCAACACAGCGAGACTCCATTTCAAAAAAAAAAACAAAAAACAAAAAAAAAACCAGAATTGGGTCCAGCCTAGAAAAGTAGCAAAATCAAACACTTTATCATGTTATGCAGTTTGCAGG 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Task1_train_895 | This sequence variant lies in STIL (STIL centriolar assembly protein) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Myoepithelial tumor | GTCTGGGCAATATAGGAAGACCTTTTCTCTAAAAAAAAAAGTAAAAATTTTAAAAAAAACTATACTTTACAATTTCAAAGAATTTACCTAGGTTTAAAAAAACAGCAGAGCTAAATTTTTCTCAGGTGTTCCTATCCAAAGCGTTTTCACTGATTTGAAAAATGTCATTGTCTTTTTTCTGATAAAATGCAAACACTATAACTCCAATTTTATAAAACAAAGATTTTTTAAAAAATCATATGTATGGCCGGGCGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGAGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATAGTGAAACTCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCATAGTCCCAGCTACTCCGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGGCACTGCACTCCAGCCTGGGCGACAGAGAAATACTCCGTCTCAAAAAAAAAAAAAAAAAATCATACGTATATATGCACATTACACATATATTTGCATAGTTATAGGATCATGAAAAATATTTAAAACTACATTTCAGGTTGTTCCCATTGGTGCTGGGGAGAAAGAGAGGAACACTGTTTTGGGGTAGGTATGTGGAGGAAGGACGTCAGTGAGGAAAGAAGAAAAAAGACAACACTTACACACTAAACACTGCGCAAGGATATAATTAAGACAAAGAACTCCGTCGAGACTATGCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAACTAGCCAGGCATGGTGGCGCGTGCCTGTAATCCCAGCTCCTAGCAGGGCTGAGGCAGGAAGATCACTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCCCTGCACTCCAGCCTGCGCAACAGAAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACAACAAAAAACTAAGAACTCTGCAACAGAGGTTCTGAAAAAAGGGAACATTTCAGAAAACAAGAAGTAGAATAAGTCCAGTATAGATATGCAGAAAGGCTCTAACTATATAGATAGGCATTATATAGGGCTGACAAACTAGAGATGAAGTATAAGCCACTGTCCAGACTTTATATTTAGCTGTATATAAAGGCTTAGTTAATTATAACAGACTTTTCATTAGAGGCAAAAAATAAAAATACAATTCTATTGTAGGTTAGGATATGCATAAGATGGTTCTACTACTAACTAGCAACGTGGCATTGGGTTAAATTATTCTCTCTAATCCTCATTTTACTTACCTGTAAAACAAGAGGGCCTAGAATTCAGTTTCCAAGGTCCCTCCTAATTCTGACATTCTATACTTCTATAAAACATCATTACTGAGGAGAGGTGCCAGTTTTTAAGAAATCTTAATACCAAGAAATTAATAGAACTAGGAAAGCACCAAGCAAACCTGTGCCTGAAGTAGTCTTAGCTGTCTGTCTTGTTCTGTGAGGAACCGATATGCATCTGGAGATAGTCCCATCATTCCATTATCTGACTCAGTCTTGGGTGTGTGCATGCACACTGTGCAAGGCTGTGGGTTACATAAGTCCATATGTGAAGGCGGTCTTGCCACAGGCGATGGTTCAATATTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGGTCTCAAGGCTATAGGACTACTTGAAGAACAGAATGCATTACAGTACAGGGCTGGACATCCACTTGGGTGAAATAATGAATGCTTTTGAAGGGCTTCAGACTGGACATCTTGAATGGATCCAACTGTGTTTGCTCCTTGCCAAGAATTTAGCGGACTATATTGAATATGACTATGATGCTGACAACACCTGCAAACGTTTGTGGAACAGTAAGATGGCAGTGGGGGAGTAGGTATCTGAAGTTCCATTGGTCTTCCTGAATTATGGGGTGAAAAAACAAAATCGTGTGGTTGGGACTGCGGGGCAAGAGAAGACTGCCTAGAATTAAGTGTGGAGGGTCTTATAGGATACTCTTCGTTTTGTACATTTCCAGCAGAAACTGTTTGGAGCTTTTCAAATATATCATGAGATGGCCCATTATGAGAAGATGGTTTAATACTGTTCCTGGTATGGGGGTTCCCTTTCTTATAGGCAGGTGGCTGTCTTACTTTGCAGTGTCTCAAAAGAGCTGGTTTATCCTGGTTTAACTGATTTGGTATTCCTCTCAAGGAAGGCTCTCCAGCTTCAACTTCTGGACTGTGTTTCTCATCATAAAGCTGGGGTTGCAATGGCTTCAAGTGTTCCAAGTGGTTAATCAAAGGAGGATTTTCATTATTCACCATTTCCAATGGAGTAGGCAGAGGGTTTGATTCTATGAAATTGCCATCCAACACAAGTGAAAGTTCAGGAACTGATGGTTGGATCTTAGAAATCTACAAATAAGAAAGAAATAGAAAAAAAAAGTATTTTTTTGGAGAAACTGTATACTTTACTTTCCTCAGACCAGTATTTCCCAAATTATATCTAATTACATATTAACAAGTGTTCATTCTTTATTTAGACCATCAGTTAATTTTTTCTGGGCATGTTTTATGTGCTAAGCACTAGGAATGCAATTGTAAGCTAAATAAACAAGGTCCTTGCCCTAAAAGAATAAAACTAAACACTTCCCAAACTTATTTAATAATGGAACTCTTTTTATTAAAACACTAACACTGCTAAGATCACAGAACACAATATGAGAAACTGTTTTATATAACTTTTTAAATCCTCTCTGCAAAAAATAAAATTGTCACAAGCAGAATGTTTTCACAGATCTAGTAGCAAATGTTTATGTACCTTAAATAGTAAAATCTTCCAATAAATGTTTCAAAATATTTCTCCACTAAGAAGTCACTCACTGTTATTCCTTCTATTGATATCAACTAAGAGGTGGAAAGCAAAAAAGAGTAAACAAAATACTCGCTGTGATGAATTTGGTTATAATTTGATATTAGCTTTAAAAAATCCTTCCCATTCCTTTTTCTTCTAAAATAAGAATTAAACAATTCTAAAATGACCCACAGGTTGGTAGCAATAAAAAAATTATGACAAGAATTTTAGCAATTAACCTCTGAAAGCAAGTATAATGTTTTCTCAGAATATAGTGATAAAAACCAATGTCAAGCTCTAGTGATAGTATATAATGTTGAGTCTATATGGTTATTAAAAGTACCAGATTCTAAAACCAAACCTCCTGAAATAGAATCCCAGCTTTACTACTTACTAGTTGTGTGTCTTGGGTAGGTAACTTAACCAATCTATGTCTCAGTTTACTCTAGGAATAACCATACATGCTTATTACATAGATATTACACATATGTATATATCATTACATATAATATGAATTATTATATATAACTGTGAAATACTTATATCTCTATATATAGATATAACCATAGAGATAGAAATAGCTAGATATATCTAAGAATGATACTTAGGTTTCAGGTAGTATTATTTAGTGTTTTAACCATGAAGAGACTTAGGTCTCTAACCACAAAAGTGAATGCATTTTAAAATCAGTGATACCTTCTGACTCACTGGATGAGGACTAGGAATTGGTCTTGGAGAAAAATCTTCATCTTCAACACCAGAGTCGTGATCATGTATTGGCATCTTCCCAGAAGATAACTTTTGGGAAGACCTAAAGAATAGAAGGGGAGACCAGAAAAGCCTTTGGTAATCCAGTGTTTTCTTTCTTCTAGAAATTGAATAAAGTCCTTTAATAAGTTGCAGTAGTACTCAGATCATTTAATTTAGTATCTGACAACCACAAATTATTTTATTTTTCAGGCCAGTGTTAGTTGACCAGGGAAGCTGGACCAGCCAGCCTTAATAAACTACCCTATTTACCTGATGATAGCAAGTTTAACCTTGTATTGTTAATGTCACAATAAATCAAGTCACTGGGCACCCTCTAGTTGATCACTTCGATAAATATAGAAACAAGTAAGACTTAGTACTTGCTGTCAAAAAATTTATAATCTAGTATTAAAGGTTATTAAACACACTATATTACAAACCCTCTGTATTAAAAAGGAAAACCAAATA 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GTCTGGGCAATATAGGAAGACCTTTTCTCTAAAAAAAAAAGTAAAAATTTTAAAAAAAACTATACTTTACAATTTCAAAGAATTTACCTAGGTTTAAAAAAACAGCAGAGCTAAATTTTTCTCAGGTGTTCCTATCCAAAGCGTTTTCACTGATTTGAAAAATGTCATTGTCTTTTTTCTGATAAAATGCAAACACTATAACTCCAATTTTATAAAACAAAGATTTTTTAAAAAATCATATGTATGGCCGGGCGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGAGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATAGTGAAACTCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCATAGTCCCAGCTACTCCGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGGCACTGCACTCCAGCCTGGGCGACAGAGAAATACTCCGTCTCAAAAAAAAAAAAAAAAAATCATACGTATATATGCACATTACACATATATTTGCATAGTTATAGGATCATGAAAAATATTTAAAACTACATTTCAGGTTGTTCCCATTGGTGCTGGGGAGAAAGAGAGGAACACTGTTTTGGGGTAGGTATGTGGAGGAAGGACGTCAGTGAGGAAAGAAGAAAAAAGACAACACTTACACACTAAACACTGCGCAAGGATATAATTAAGACAAAGAACTCCGTCGAGACTATGCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAACTAGCCAGGCATGGTGGCGCGTGCCTGTAATCCCAGCTCCTAGCAGGGCTGAGGCAGGAAGATCACTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCCCTGCACTCCAGCCTGCGCAACAGAAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACAACAAAAAACTAAGAACTCTGCAACAGAGGTTCTGAAAAAAGGGAACATTTCAGAAAACAAGAAGTAGAATAAGTCCAGTATAGATATGCAGAAAGGCTCTAACTATATAGATAGGCATTATATAGGGCTGACAAACTAGAGATGAAGTATAAGCCACTGTCCAGACTTTATATTTAGCTGTATATAAAGGCTTAGTTAATTATAACAGACTTTTCATTAGAGGCAAAAAATAAAAATACAATTCTATTGTAGGTTAGGATATGCATAAGATGGTTCTACTACTAACTAGCAACGTGGCATTGGGTTAAATTATTCTCTCTAATCCTCATTTTACTTACCTGTAAAACAAGAGGGCCTAGAATTCAGTTTCCAAGGTCCCTCCTAATTCTGACATTCTATACTTCTATAAAACATCATTACTGAGGAGAGGTGCCAGTTTTTAAGAAATCTTAATACCAAGAAATTAATAGAACTAGGAAAGCACCAAGCAAACCTGTGCCTGAAGTAGTCTTAGCTGTCTGTCTTGTTCTGTGAGGAACCGATATGCATCTGGAGATAGTCCCATCATTCCATTATCTGACTCAGTCTTGGGTGTGTGCATGCACACTGTGCAAGGCTGTGGGTTACATAAGTCCATATGTGAAGGCGGTCTTGCCACAGGCGATGGTTCAATATTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGGTCTCAAGGCTATAGGACTACTTGAAGAACAGAATGCATTACAGTACAGGGCTGGACATCCACTTGGGTGAAATAATGAATGCTTTTGAAGGGCTTCAGACTGGACATCTTGAATGGATCCAACTGTGTTTGCTCCTTGCCAAGAATTTAGCGGACTATATTGAATATGACTATGATGCTGACAACACCTGCAAACGTTTGTGGAACAGTAAGATGGCAGTGGGGGAGTAGGTATCTGAAGTTCCATTGGTCTTCCTGAATTATGGGGTGAAAAAACAAAATCGTGTGGTTGGGACTGCGGGGCAAGAGAAGACTGCCTAGAATTAAGTGTGGAGGGTCTTATAGGATACTCTTCGTTTTTTACATTTCCAGCAGAAACTGTTTGGAGCTTTTCAAATATATCATGAGATGGCCCATTATGAGAAGATGGTTTAATACTGTTCCTGGTATGGGGGTTCCCTTTCTTATAGGCAGGTGGCTGTCTTACTTTGCAGTGTCTCAAAAGAGCTGGTTTATCCTGGTTTAACTGATTTGGTATTCCTCTCAAGGAAGGCTCTCCAGCTTCAACTTCTGGACTGTGTTTCTCATCATAAAGCTGGGGTTGCAATGGCTTCAAGTGTTCCAAGTGGTTAATCAAAGGAGGATTTTCATTATTCACCATTTCCAATGGAGTAGGCAGAGGGTTTGATTCTATGAAATTGCCATCCAACACAAGTGAAAGTTCAGGAACTGATGGTTGGATCTTAGAAATCTACAAATAAGAAAGAAATAGAAAAAAAAAGTATTTTTTTGGAGAAACTGTATACTTTACTTTCCTCAGACCAGTATTTCCCAAATTATATCTAATTACATATTAACAAGTGTTCATTCTTTATTTAGACCATCAGTTAATTTTTTCTGGGCATGTTTTATGTGCTAAGCACTAGGAATGCAATTGTAAGCTAAATAAACAAGGTCCTTGCCCTAAAAGAATAAAACTAAACACTTCCCAAACTTATTTAATAATGGAACTCTTTTTATTAAAACACTAACACTGCTAAGATCACAGAACACAATATGAGAAACTGTTTTATATAACTTTTTAAATCCTCTCTGCAAAAAATAAAATTGTCACAAGCAGAATGTTTTCACAGATCTAGTAGCAAATGTTTATGTACCTTAAATAGTAAAATCTTCCAATAAATGTTTCAAAATATTTCTCCACTAAGAAGTCACTCACTGTTATTCCTTCTATTGATATCAACTAAGAGGTGGAAAGCAAAAAAGAGTAAACAAAATACTCGCTGTGATGAATTTGGTTATAATTTGATATTAGCTTTAAAAAATCCTTCCCATTCCTTTTTCTTCTAAAATAAGAATTAAACAATTCTAAAATGACCCACAGGTTGGTAGCAATAAAAAAATTATGACAAGAATTTTAGCAATTAACCTCTGAAAGCAAGTATAATGTTTTCTCAGAATATAGTGATAAAAACCAATGTCAAGCTCTAGTGATAGTATATAATGTTGAGTCTATATGGTTATTAAAAGTACCAGATTCTAAAACCAAACCTCCTGAAATAGAATCCCAGCTTTACTACTTACTAGTTGTGTGTCTTGGGTAGGTAACTTAACCAATCTATGTCTCAGTTTACTCTAGGAATAACCATACATGCTTATTACATAGATATTACACATATGTATATATCATTACATATAATATGAATTATTATATATAACTGTGAAATACTTATATCTCTATATATAGATATAACCATAGAGATAGAAATAGCTAGATATATCTAAGAATGATACTTAGGTTTCAGGTAGTATTATTTAGTGTTTTAACCATGAAGAGACTTAGGTCTCTAACCACAAAAGTGAATGCATTTTAAAATCAGTGATACCTTCTGACTCACTGGATGAGGACTAGGAATTGGTCTTGGAGAAAAATCTTCATCTTCAACACCAGAGTCGTGATCATGTATTGGCATCTTCCCAGAAGATAACTTTTGGGAAGACCTAAAGAATAGAAGGGGAGACCAGAAAAGCCTTTGGTAATCCAGTGTTTTCTTTCTTCTAGAAATTGAATAAAGTCCTTTAATAAGTTGCAGTAGTACTCAGATCATTTAATTTAGTATCTGACAACCACAAATTATTTTATTTTTCAGGCCAGTGTTAGTTGACCAGGGAAGCTGGACCAGCCAGCCTTAATAAACTACCCTATTTACCTGATGATAGCAAGTTTAACCTTGTATTGTTAATGTCACAATAAATCAAGTCACTGGGCACCCTCTAGTTGATCACTTCGATAAATATAGAAACAAGTAAGACTTAGTACTTGCTGTCAAAAAATTTATAATCTAGTATTAAAGGTTATTAAACACACTATATTACAAACCCTCTGTATTAAAAAGGAAAACCAAATA 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Task1_train_896 | A genomic change on Chromosome 1 affects FOXE3, LINC01389 (forkhead box E3| long intergenic non-protein coding RNA 1389). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cataract 34 multiple types | ATTATTTCTAATGTCTCAGCTCAGCCTTAAAGGATGGCATTCTTAGAAGAGTGGGGTGCTAGAGCTTTGAACTTCACATTTAATTCCAGCTCTACCACTTACTACTAGCTGTGTGAAGTCAGGGAAACCACTTAACCTCTCAGAACCTTAGTTTCCTCATTTGCAAAACAGGAATAATAACAGTACTCACTTCACGGGGTGCCCAAACTTAAGTGCAATAATGTACATAAAGTGTTTACCAAATACAAAATGCTCAGTAATGGTGGCTGTGATGTCATCAGCTGAGACTGGAGCTGAGAGAGGGGCCCTTGAGCTCCATGCTTTGAGTTTGGATTTTGAACTGGATTTTGAGTTTGGAGTTTACAGGCCTGCTGTAACTAGCTTTGGTCACCTATACCTAGGGACACTCTATAGCATGGCTGGGGGACTAGGATGGGGCAAGTGAGATGCCCCAAATGTAAGGAGGCCCTGGCTCTCAAGTGCTGACTGCACTTGCAAGGCCCTGAGACTGAGCTCCCCTTAAACTCAGCACCTCAGGCACCTCAGTGGGCTCACTGTCCTTCCAGCCCTGCTCCATGTCCAAGTCCCTTGATCTGCCTGTCCCCAGGACAACCCACTTTAAGACAAGGCTCCTTCACCCTGTAGTTCCCTTGGAGCTGGGGATGGGTCTCCTGTCTCTTGGGAGAAGAAGTTTCCCAAAATAGGCTGGGTGCTGCATCCCCCTGGATGCCAGTTGTGGGTGGAACTTCTCAGACTGAGTTTTTAACAAACACTGCCAAAGACCCCCCATCCCCAGTGAGATGTGAGTGTGGTGTTTCTGGGTCAGAAGGCGGCTTTTTCAGACCCCCAGTCTGTGGAAGCCTACATTTTGTACTGTGTGTGTGGGTGTATGTGTGTGTGTGTGTATGTGAAGAAAAGCTGTTTTCTTTAACAGGGGGGTGTGGAGAGGAGGCAGCCAGAAAGGCAGCTCCAAGTTGTGGATTTCCTGGGGGCTCTTCATTTAAAGCGGCCGCACCACTTTCCACAATTCTGTTTTTTCAGAGAATGCTCTCAAGGCCTGGAGGGAGGGCATGACAGGGGTATGGGGGAGGGGGGTGGCAGAGAGGCAAGATGGTGACCCTGATCTGGAGCAGTCAAACATTCTCCCAGAGACAAAACCGGCCTGGCTCTGCCCTGCCCCGCTGCTTCATTACCTTGGCCCAGGTTCCCTAATGTCTGTGAGTGGGCCTGACACCTCCCCATCAGGATACTGAGGGCTGGCAAGGCGGCCTTCATCTCTGTTCCAGCTGGGGATGGAAGGCCAGGAGAAGGATGGGGGGACCGACTACTGGGAGGAGCAAAATGGGGAGGAGCAAAATGGGGAGGGGGCTGGGAGAGTGAATGGGTGGATTTGTGATTGGGAATGATCCAAAGGAGAGGGGGTAGAAGGAGGGGTGGAAAGGGAAGGGGACTGACCAAATACAGTGGGATGGGGCCAGGGGCTGATATAACCGAGATGGGGAAGGGGTGAGTCTGGGTCTGGGAAAAACTGATCCAAAGGCAGAAAGGGAGGGGCGAAATGGAGGAGGGTACCGTGAACAGAGTAAGGGGGCTGGGAGAGGAAATTAGAGGGGAGGCGCTGGCCAGCAGGCAAGGCCTGAGCCCTCTCCCCCGGCGGTGGTTGGGGGGGGGCCGTGTCCATATAAAGCGGGTCGGCGGCCCCTGCGGTCCCGGAGCCGCGCGGGCAGGGGCTGCCGCAGCCGATGGCGGGGCGCAGCGACATGGATCCGCCCGCCGCGTTCTCTGGCTTCCCTGCCCTGCCAGCGGTCGCGCCGTCGGGGCCGCCGCCGTCGCCGCTCGCAGGAGCCGAGCCAGGGCGGGAGCCAGAGGAGGCGGCGGCTGGCCGCGGAGAGGCGGCCCCCACGCCCGCGCCCGGCCCGGGGCGGCGGCGGCGGCGGCCCCTGCAGCGCGGGAAGCCGCCCTACTCGTACATCGCGCTCATCGCCATGGCTCTGGCGCACGCCCCGGGCCGCCGCCTCACGCTGGCCGCCATCTACCGCTTCATCACCGAACGCTTTGCCTTCTACCGCGACAGCCCGCGCAAGTGGCAGAACAGCATCCGCCACAATCTCACGCTCAACGACTGCTTCGTCAAGGTGCCCCGCGAGCCGGGCAACCCGGGCAAGGGCAACTACTGGACGCTGGACCCCGCGGCCGCAGACATGTTCGACAACGGCAGCTTCCTGCGGCGCCGCAAGCGCTTCAAGCGCGCCGAGCTGCCCGCGCACGCGGCCGCGGCGCCAGGGCCGCCGCTCCCCTTCCCCTACGCGCCCTACGCGCCCGCGCCCGGCCCCGCGCTGCTGGTGCCGCCGCCTTCTGCCGGACCGGGCCCCTCGCCGCCCGCGCGTCTGTTCAGCGTCGACAGCCTGGTGAACCTGCAGCCGGAGCTAGCGGGGCTGGGCGCCCCCGAGCCGCCCTGCTGCGCCGCGCCCGACGCCGCAGCCGCAGCCTTCCCGCCCTGCGCTGCCGCCGCCTCCCCGCCACTCTACTCGCAGGTCCCCGACCGCCTGGTACTGCCCGCGACGCGCCCCGGCCCCGGCCCGCTGCCCGCTGAGCCCCTCCTGGCCTTGGCCGGGCCGGCAGCCGCTCTCGGCCCGCTCAGCCCTGGGGAGGCCTACCTGAGGCAGCCGGGCTTCGCGTCGGGGCTGGAGCGCTACCTGTGAGCCTGCGCCGCGCGGGCAGGCACCTGTGCGACCTGTGCCCCGGACCTGCGGCGCCGCCCTCGAGCGCCCCATCTCTACCCCCCACCCTGGCTTGGAGCACACCCTGCGCCTCTCGTCGTGGCCTCCTGGACTCAAACTCCTGCTACATCCTTCTCCGTCCCCCATCCCTGGGGAGGCTCCCACCATCTCGCCACTGGACAGAAGCGTCCCCTTTGACCTGCCAGCCTCTCATTTCTTCTCCCTCCACTTGTGAGCGCCCCCAGCTTTGCGGCGCCCCCCACCCCAGCGCTGTCTGTGGGTCCCTTGCCCCGGAGCTGACTCGCCTCCAGTGAGTCCATACCCCAGGTTTCCTGGTGAGTTCCAAGCCTTTGGAAGCCAGATCTGTGATCCCAAGCCGCCTCCTCCACCGACTGTACTTCATCAACCTTCTCTCATGTTTTTCCGACACTCCTGGGTCAGACTCCTGGGTTCATGACTTACTTGCTAGCGTCCCTTCATTTTCCCACAAGTTTGCCCCCCACCTCCACTTACCTGTCTGCCCTCAGCTTCTTCCTGGGAGAGAGCCCCCCTTTCACGTAGACACACCTGGCTGCCTTCTTCACGCCCTGAGGACACTTCTTGGAGATTTCAGACAGGCAGCACCAGGGCTCCTGACTGAAAGGGGAGTTGGTGGGCCTTTAGGTCTGCCCCATCCCCTGGAAAACTTAGGACTTATTGGGTTATTATTATTTTTAATTAAAGCTGGTTTAATTAAAAAGAAAGAAACTTTTTTCTGGACTTGGTGTGCTGGCTGGTGACTTGGGGGAGTGGTCTGGGGAGACGGGTGAGCTTTATTCTAGATCTTGGGTTGCCACATGGGGTGAACCTCCTTGTGAGACATCAATCAGAAGTTCATGAAATGGGATTAGGAAGTGATTCTCCAGCAGGATTAGTGGCTAACACAATTTTGTTTTAAAAAGGAAGTGATTCAGCCATAGCTGTGCACATAGTAGGCCTAGTCAAATGCCATCTCCTGCATCTCAGCCTGGTAGAGACGAGATGGGCTGGGCATGTGTGTGTACACACTTGTGTGAATGTATCTGAGCAGCAGGTTGTCTGCTCTCTGGGATTATTCCCAGCTCCCATGGATAAAGGAGCACTGGCCGTTGATTCACTCCTCCAGTTAGTTAATGTGCTGAGCCTGTGCTAGACACTGGGGAAATATTACTGAATGAATGGGCAAAATCCCTGCCTCATGGAGGTTGTGGGCCAGTGGGAAGAGTCATTAATCCAACCATCAACGCTCAGAGAAATAAGATAAGTGCTCTACAGCCTTGCACTCAAAGTGTGGTCCACAGACCTACAACATCACCTGGGAGCTTGTTAGAAATGCAGAATCTGGCAGGACGTGCTGG | ATTATTTCTAATGTCTCAGCTCAGCCTTAAAGGATGGCATTCTTAGAAGAGTGGGGTGCTAGAGCTTTGAACTTCACATTTAATTCCAGCTCTACCACTTACTACTAGCTGTGTGAAGTCAGGGAAACCACTTAACCTCTCAGAACCTTAGTTTCCTCATTTGCAAAACAGGAATAATAACAGTACTCACTTCACGGGGTGCCCAAACTTAAGTGCAATAATGTACATAAAGTGTTTACCAAATACAAAATGCTCAGTAATGGTGGCTGTGATGTCATCAGCTGAGACTGGAGCTGAGAGAGGGGCCCTTGAGCTCCATGCTTTGAGTTTGGATTTTGAACTGGATTTTGAGTTTGGAGTTTACAGGCCTGCTGTAACTAGCTTTGGTCACCTATACCTAGGGACACTCTATAGCATGGCTGGGGGACTAGGATGGGGCAAGTGAGATGCCCCAAATGTAAGGAGGCCCTGGCTCTCAAGTGCTGACTGCACTTGCAAGGCCCTGAGACTGAGCTCCCCTTAAACTCAGCACCTCAGGCACCTCAGTGGGCTCACTGTCCTTCCAGCCCTGCTCCATGTCCAAGTCCCTTGATCTGCCTGTCCCCAGGACAACCCACTTTAAGACAAGGCTCCTTCACCCTGTAGTTCCCTTGGAGCTGGGGATGGGTCTCCTGTCTCTTGGGAGAAGAAGTTTCCCAAAATAGGCTGGGTGCTGCATCCCCCTGGATGCCAGTTGTGGGTGGAACTTCTCAGACTGAGTTTTTAACAAACACTGCCAAAGACCCCCCATCCCCAGTGAGATGTGAGTGTGGTGTTTCTGGGTCAGAAGGCGGCTTTTTCAGACCCCCAGTCTGTGGAAGCCTACATTTTGTACTGTGTGTGTGGGTGTATGTGTGTGTGTGTGTATGTGAAGAAAAGCTGTTTTCTTTAACAGGGGGGTGTGGAGAGGAGGCAGCCAGAAAGGCAGCTCCAAGTTGTGGATTTCCTGGGGGCTCTTCATTTAAAGCGGCCGCACCACTTTCCACAATTCTGTTTTTTCAGAGAATGCTCTCAAGGCCTGGAGGGAGGGCATGACAGGGGTATGGGGGAGGGGGGTGGCAGAGAGGCAAGATGGTGACCCTGATCTGGAGCAGTCAAACATTCTCCCAGAGACAAAACCGGCCTGGCTCTGCCCTGCCCCGCTGCTTCATTACCTTGGCCCAGGTTCCCTAATGTCTGTGAGTGGGCCTGACACCTCCCCATCAGGATACTGAGGGCTGGCAAGGCGGCCTTCATCTCTGTTCCAGCTGGGGATGGAAGGCCAGGAGAAGGATGGGGGGACCGACTACTGGGAGGAGCAAAATGGGGAGGAGCAAAATGGGGAGGGGGCTGGGAGAGTGAATGGGTGGATTTGTGATTGGGAATGATCCAAAGGAGAGGGGGTAGAAGGAGGGGTGGAAAGGGAAGGGGACTGACCAAATACAGTGGGATGGGGCCAGGGGCTGATATAACCGAGATGGGGAAGGGGTGAGTCTGGGTCTGGGAAAAACTGATCCAAAGGCAGAAAGGGAGGGGCGAAATGGAGGAGGGTACCGTGAACAGAGTAAGGGGGCTGGGAGAGGAAATTAGAGGGGAGGCGCTGGCCAGCAGGCAAGGCCTGAGCCCTCTCCCCCGGCGGTGGTTGGGGGGGGGCCGTGTCCATATAAAGCGGGTCGGCGGCCCCTGCGGTCCCGGAGCCGCGCGGGCAGGGGCTGCCGCAGCCGATGGCGGGGCGCAGCGACATGGATCCGCCCGCCGCGTTCTCTGGCTTCCCTGCCCTGCCAGCGGTCGCGCCGTCGGGGCCGCCGCCGTCGCCGCTCGCAGGAGCCGAGCCAGGGCGGGAGCCAGAGGAGGCGGCGGCTGGCCGCGGAGAGGCGGCCCCCACGCCCGCGCCCGGCCCGGGGCGGCGGCGGCGGCGGCCCCTGCAGCGCGGGAAGCCGCCCTACTCGTACATCGCGCTCATCGCCATGGCTCTGGCGCACGCCCCGGGCCGCCGCCTCACGCTGGCCGCCATCTACCGCTTCATCACCAAACGCTTTGCCTTCTACCGCGACAGCCCGCGCAAGTGGCAGAACAGCATCCGCCACAATCTCACGCTCAACGACTGCTTCGTCAAGGTGCCCCGCGAGCCGGGCAACCCGGGCAAGGGCAACTACTGGACGCTGGACCCCGCGGCCGCAGACATGTTCGACAACGGCAGCTTCCTGCGGCGCCGCAAGCGCTTCAAGCGCGCCGAGCTGCCCGCGCACGCGGCCGCGGCGCCAGGGCCGCCGCTCCCCTTCCCCTACGCGCCCTACGCGCCCGCGCCCGGCCCCGCGCTGCTGGTGCCGCCGCCTTCTGCCGGACCGGGCCCCTCGCCGCCCGCGCGTCTGTTCAGCGTCGACAGCCTGGTGAACCTGCAGCCGGAGCTAGCGGGGCTGGGCGCCCCCGAGCCGCCCTGCTGCGCCGCGCCCGACGCCGCAGCCGCAGCCTTCCCGCCCTGCGCTGCCGCCGCCTCCCCGCCACTCTACTCGCAGGTCCCCGACCGCCTGGTACTGCCCGCGACGCGCCCCGGCCCCGGCCCGCTGCCCGCTGAGCCCCTCCTGGCCTTGGCCGGGCCGGCAGCCGCTCTCGGCCCGCTCAGCCCTGGGGAGGCCTACCTGAGGCAGCCGGGCTTCGCGTCGGGGCTGGAGCGCTACCTGTGAGCCTGCGCCGCGCGGGCAGGCACCTGTGCGACCTGTGCCCCGGACCTGCGGCGCCGCCCTCGAGCGCCCCATCTCTACCCCCCACCCTGGCTTGGAGCACACCCTGCGCCTCTCGTCGTGGCCTCCTGGACTCAAACTCCTGCTACATCCTTCTCCGTCCCCCATCCCTGGGGAGGCTCCCACCATCTCGCCACTGGACAGAAGCGTCCCCTTTGACCTGCCAGCCTCTCATTTCTTCTCCCTCCACTTGTGAGCGCCCCCAGCTTTGCGGCGCCCCCCACCCCAGCGCTGTCTGTGGGTCCCTTGCCCCGGAGCTGACTCGCCTCCAGTGAGTCCATACCCCAGGTTTCCTGGTGAGTTCCAAGCCTTTGGAAGCCAGATCTGTGATCCCAAGCCGCCTCCTCCACCGACTGTACTTCATCAACCTTCTCTCATGTTTTTCCGACACTCCTGGGTCAGACTCCTGGGTTCATGACTTACTTGCTAGCGTCCCTTCATTTTCCCACAAGTTTGCCCCCCACCTCCACTTACCTGTCTGCCCTCAGCTTCTTCCTGGGAGAGAGCCCCCCTTTCACGTAGACACACCTGGCTGCCTTCTTCACGCCCTGAGGACACTTCTTGGAGATTTCAGACAGGCAGCACCAGGGCTCCTGACTGAAAGGGGAGTTGGTGGGCCTTTAGGTCTGCCCCATCCCCTGGAAAACTTAGGACTTATTGGGTTATTATTATTTTTAATTAAAGCTGGTTTAATTAAAAAGAAAGAAACTTTTTTCTGGACTTGGTGTGCTGGCTGGTGACTTGGGGGAGTGGTCTGGGGAGACGGGTGAGCTTTATTCTAGATCTTGGGTTGCCACATGGGGTGAACCTCCTTGTGAGACATCAATCAGAAGTTCATGAAATGGGATTAGGAAGTGATTCTCCAGCAGGATTAGTGGCTAACACAATTTTGTTTTAAAAAGGAAGTGATTCAGCCATAGCTGTGCACATAGTAGGCCTAGTCAAATGCCATCTCCTGCATCTCAGCCTGGTAGAGACGAGATGGGCTGGGCATGTGTGTGTACACACTTGTGTGAATGTATCTGAGCAGCAGGTTGTCTGCTCTCTGGGATTATTCCCAGCTCCCATGGATAAAGGAGCACTGGCCGTTGATTCACTCCTCCAGTTAGTTAATGTGCTGAGCCTGTGCTAGACACTGGGGAAATATTACTGAATGAATGGGCAAAATCCCTGCCTCATGGAGGTTGTGGGCCAGTGGGAAGAGTCATTAATCCAACCATCAACGCTCAGAGAAATAAGATAAGTGCTCTACAGCCTTGCACTCAAAGTGTGGTCCACAGACCTACAACATCACCTGGGAGCTTGTTAGAAATGCAGAATCTGGCAGGACGTGCTGG 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Task1_train_897 | This variant affects gene ORC1 (origin recognition complex subunit 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Meier-Gorlin syndrome 1 | GATATTTTTACACGACTTTCTAAATTTCTCTCCAACCTCAGAGCACCAGCATAGGGCCTCATACCCAGCAGGTACTCAGCAAAGATGTGCTGACTGATTTATGGGTGCAGCTGGTGACTTACCTTCCTGGCTACCAGCTGGATGGCATCATCTTCAAAGGCCTTTAGATGCTTGAGCCGGGACCTTAGGATCTGCTGCAGCTGGCTATATGTATAGGGCTGGAAGCACATCCTGGTAAGACCCTGGGGAGCCAAAATGACAGAGGAATAAGTTGGTTGACTGCCCAGTGATTATCCAGGTGGAAAGTCACCCTTGGGCCCCCAAACCCAATTCCCAGGTCCCATATAACAAATTACACATTTCATACCTAGACTACCACTGCCTTTACTGACAATGACCAGTGGTGTCCTGTAGGGCAGTAGTTTTTGAACTATTTTTTCATTTCATTTAAGGACCTTTGATTCTTTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTACCGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGTCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACTGGTGCCCACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGGGACAGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACGCCCGGCCTAAACTGGGATTATAGGCATGAGCCACCACGCCCGGCCTAAGGACCTTTGATTCTATCAGAATCATTTGGAAGTAGATAAAAGCTGAGGTGCTTTAATTGAAGTGGGTGAGAGGATCTTCAGATCTATGCTATACATTGTCACTGCACTTGGCTTCACTTACCAGGCTCTTCATGATTTCTCATTGCGCTTCCTGCTGAACTGCAAGGCCTGTGAGGGCAGACATTGCATCTGCCTGGTTTATTGCATTATTCCAAGCACCTAACACTGCCTGGCAGGTTATAAGTGCTAAAACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACACTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCCTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGTCACCACACCTGGCTAATTTTTGTCTGTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTAAAACATTTTTTTTTTAAATAATTAAACCTCCATGGTTTGGTGCAGTTTAAAAGTCCACGAGCAGCAGAACACCAAGATATGATGTTTGCAGAAAATCATGCAATGGTTACATATTCCAACATAGAAACTACAAGCATTGCAGAAATCACATTTCTTAACATCCCAATTTATTTTAGTATTCATTTTTGCAGAACTTTTTTTTTTTTGGGATGGACTCTTGCTTCGTTGCCAGACTGGAGTGCAGTGGCACGATCTCAACTCAATGCAAACTCTGCCTCCGGAGTTCAAGCAATTCTCCTGCCTCAGCTTCCTAAGTAAAAATTAGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCGGGGTTTACAGGCGTGAGCCACCACACCTGGACCATTTTTGCAGAACTTCTTGGCCAAGCTTACAGATCTGCAAGAACAGCATGGGAACTGCCCTAGAACCTACCAGTCGGCTGGACACCCGGTTCATCATGATTCGCTCTGGCAGGTCCATTGTGTTGGCAATTGCCAGGACCACAAGCCGGGCCTCCTTATGAGTGGGCCAGTCAAAGAGATTGTACATTATGTCTTGTTTGTGAGTCCACAGAAGGTCGAGCTGCCAGGGCAAAGGAGAGAGGTGCAGAGTCAATCACAGAGACTGAGCTGGTGCTTCAAAATGAAGACCTATAACCACTGCTTTAGCTGCATGTTTCCCAAGTCATAGCACCAAAACAATCCATTGACACACGCCTCTCAGCACCAGAAAATGGGCTCATATGAATGGAGAAGGGAGCCAGGACTTTCCTCCCTCCCATCCAGCACTTGCTCCTGAGGTACAGCCCTGTTTCTTCTCCTGTCCGCCCATGGGCACCTCACCTCATCCACAAGCAGGACGGTGGTTTCCTGAGGTGACCCTCGGGTGCAGAATTGCTTTGCCAGCAGTTCTGCCGCATGGTTGGCTGTTGCTTTTTGGCCTGTTAGCTTCTGCATTAGGAGAAACACAGTTGTGAGGAACTGTAAGGGTCTTACTCCCTTGGGCTTAAAGTTAAATCTGCAAATGGAGGGAGGCATTTAACCTGAGGACTTCGGTATCCTATATTCTGCCTCCCAATCTAGTCTTAACCTTTACTTGGAAGGACAAGAGAAGGCACCGAAAGAGAAGATAAAGAAGGTATATGAGTTTGAAATGCAAATGAGTCACAGGCTGGGCCAGAAGCCCCCTTAAAATCACTATTACAGAATTCTATAACTGGATGTTACCTGCTCCAAAATAACAGCCCATGGACAAAGAGCAAGGCTTAACCTCTGGCCTGCCACGGACCCCTTTTCCATGTTGCCACACTGCTACCTGTAAGCTCACAGTTTTCACCATGTGGGTAAGTACTGGCTTCCTGGCTTGTAATCATTATCCAGCTCCTAGACTTTGAAGTCTCTTAGGGTAAGAATTCTGTCTTCCTTGCCCTTGCTACCTCTACAGAAAGGACAATGCCTGGTATATCATGAACATGCAATACACGCAAAATTAAGTAACTCTTTCCTTTTTCATGTGTCACGAAGAAACAGCATTTTCCAAAAAGCCTAAACAGCTCTGCTTACCTGCAAGATTTGCACATAGACTTGGTGGGGCTCCGTCAGCTTCATGCCATTGACCTCAATGTATTGAAAGGGAGGAACATCATTGGCTTGGGCTGCCTGCTGCAGGCAGCGTATCACTTCATGAACAGTGGCAGTCTTCCCTGTCCCAGGGACACCGGAGATGTACATGCACCTAGAGCAAGAGAGGAAAACCCGTGGGGTAGGTCTCAGCCAGCCACTACACGTTATAATCAGTTAGGAGTGTGGGAATGTATACTGAGGGAAGGACCGAGACCCTTGAAATGTGGAGGTGGGGGCAGTAGGGACCATCCTTGGAAGCTGGTCAGAGTAGGACCTGCTTATATAGAATCATTCATTCCACAGTTTGCATAATGCTATATGCAAACTGCCTACTCAATGAAGGCCAGTTTCATTCTTTCTGAAAGGCAAAATTTCTGTTACTATAGGATTACTTTGGCAACAAATGTTTCAGAAGCTTTGGGCTTCAGCAACGATTTGGTCTAGTCTGCTGATACTGGAGAAAGCCTGTATGGCTGAACTGTAACACCCAAGGCATTCCACTAGCAGGGGCCTTATTCCCCAAACTACCCTGCCTGCCTCACATGACTCACCCTCCGGTATGGTCAAGGAGTTTGCTTTCCACAAAATTGTAGATGTCTTGGAATTCCTGTTCCCGACAGGGAAGAGACTCAGGTACAGCAGAAACATGCAGCCTACCATTGGTGGTAAACGGGAGAAAAGGAAGACTTTAGGAACATTCCCCAACCATCTACTCATTAATCAATGGAAAATGATTATGGTTTCTTGTCTATGTTTCTACCTGAAAACTCAATTTCAAATGCTAGAGAATCCCTTCATTCTCAAATCCCTCCATTTGGCCTCATAATCCTTGGCCTCCGTTTCTCCACCCAAATCACATGGGTGGACCTCATCCCACAGGAGATTCAGATTTTGCTTGATTTCTGACAGGATCCAGACTTATATGAAAGTCTCCATATGGTTCTAAAGGGCATCAAAACAAAGAGGCACTGTCCTGACTAATCATCTTCCATCCCTGCGGAAATGA | GATATTTTTACACGACTTTCTAAATTTCTCTCCAACCTCAGAGCACCAGCATAGGGCCTCATACCCAGCAGGTACTCAGCAAAGATGTGCTGACTGATTTATGGGTGCAGCTGGTGACTTACCTTCCTGGCTACCAGCTGGATGGCATCATCTTCAAAGGCCTTTAGATGCTTGAGCCGGGACCTTAGGATCTGCTGCAGCTGGCTATATGTATAGGGCTGGAAGCACATCCTGGTAAGACCCTGGGGAGCCAAAATGACAGAGGAATAAGTTGGTTGACTGCCCAGTGATTATCCAGGTGGAAAGTCACCCTTGGGCCCCCAAACCCAATTCCCAGGTCCCATATAACAAATTACACATTTCATACCTAGACTACCACTGCCTTTACTGACAATGACCAGTGGTGTCCTGTAGGGCAGTAGTTTTTGAACTATTTTTTCATTTCATTTAAGGACCTTTGATTCTTTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTACCGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGTCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACTGGTGCCCACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGGGACAGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACGCCCGGCCTAAACTGGGATTATAGGCATGAGCCACCACGCCCGGCCTAAGGACCTTTGATTCTATCAGAATCATTTGGAAGTAGATAAAAGCTGAGGTGCTTTAATTGAAGTGGGTGAGAGGATCTTCAGATCTATGCTATACATTGTCACTGCACTTGGCTTCACTTACCAGGCTCTTCATGATTTCTCATTGCGCTTCCTGCTGAACTGCAAGGCCTGTGAGGGCAGACATTGCATCTGCCTGGTTTATTGCATTATTCCAAGCACCTAACACTGCCTGGCAGGTTATAAGTGCTAAAACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACACTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCCTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGTCACCACACCTGGCTAATTTTTGTCTGTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTAAAACATTTTTTTTTTAAATAATTAAACCTCCATGGTTTGGTGCAGTTTAAAAGTCCACGAGCAGCAGAACACCAAGATATGATGTTTGCAGAAAATCATGCAATGGTTACATATTCCAACATAGAAACTACAAGCATTGCAGAAATCACATTTCTTAACATCCCAATTTATTTTAGTATTCATTTTTGCAGAACTTTTTTTTTTTTGGGATGGACTCTTGCTTCGTTGCCAGACTGGAGTGCAGTGGCACGATCTCAACTCAATGCAAACTCTGCCTCCGGAGTTCAAGCAATTCTCCTGCCTCAGCTTCCTAAGTAAAAATTAGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCGGGGTTTACAGGCGTGAGCCACCACACCTGGACCATTTTTGCAGAACTTCTTGGCCAAGCTTACAGATCTGCAAGAACAGCATGGGAACTGCCCTAGAACCTACCAGTCGGCTGGACACCCGGTTCATCATGATTCGCTCTGGCAGGTCCATTGTGTTGGCAATTGCCAGGACCACAAGCCGGGCCTCCTTATGAGTGGGCCAGTCAAAGAGATTGTACATTATGTCTTGTTTGTGAGTCCACAGAAGGTCGGGCTGCCAGGGCAAAGGAGAGAGGTGCAGAGTCAATCACAGAGACTGAGCTGGTGCTTCAAAATGAAGACCTATAACCACTGCTTTAGCTGCATGTTTCCCAAGTCATAGCACCAAAACAATCCATTGACACACGCCTCTCAGCACCAGAAAATGGGCTCATATGAATGGAGAAGGGAGCCAGGACTTTCCTCCCTCCCATCCAGCACTTGCTCCTGAGGTACAGCCCTGTTTCTTCTCCTGTCCGCCCATGGGCACCTCACCTCATCCACAAGCAGGACGGTGGTTTCCTGAGGTGACCCTCGGGTGCAGAATTGCTTTGCCAGCAGTTCTGCCGCATGGTTGGCTGTTGCTTTTTGGCCTGTTAGCTTCTGCATTAGGAGAAACACAGTTGTGAGGAACTGTAAGGGTCTTACTCCCTTGGGCTTAAAGTTAAATCTGCAAATGGAGGGAGGCATTTAACCTGAGGACTTCGGTATCCTATATTCTGCCTCCCAATCTAGTCTTAACCTTTACTTGGAAGGACAAGAGAAGGCACCGAAAGAGAAGATAAAGAAGGTATATGAGTTTGAAATGCAAATGAGTCACAGGCTGGGCCAGAAGCCCCCTTAAAATCACTATTACAGAATTCTATAACTGGATGTTACCTGCTCCAAAATAACAGCCCATGGACAAAGAGCAAGGCTTAACCTCTGGCCTGCCACGGACCCCTTTTCCATGTTGCCACACTGCTACCTGTAAGCTCACAGTTTTCACCATGTGGGTAAGTACTGGCTTCCTGGCTTGTAATCATTATCCAGCTCCTAGACTTTGAAGTCTCTTAGGGTAAGAATTCTGTCTTCCTTGCCCTTGCTACCTCTACAGAAAGGACAATGCCTGGTATATCATGAACATGCAATACACGCAAAATTAAGTAACTCTTTCCTTTTTCATGTGTCACGAAGAAACAGCATTTTCCAAAAAGCCTAAACAGCTCTGCTTACCTGCAAGATTTGCACATAGACTTGGTGGGGCTCCGTCAGCTTCATGCCATTGACCTCAATGTATTGAAAGGGAGGAACATCATTGGCTTGGGCTGCCTGCTGCAGGCAGCGTATCACTTCATGAACAGTGGCAGTCTTCCCTGTCCCAGGGACACCGGAGATGTACATGCACCTAGAGCAAGAGAGGAAAACCCGTGGGGTAGGTCTCAGCCAGCCACTACACGTTATAATCAGTTAGGAGTGTGGGAATGTATACTGAGGGAAGGACCGAGACCCTTGAAATGTGGAGGTGGGGGCAGTAGGGACCATCCTTGGAAGCTGGTCAGAGTAGGACCTGCTTATATAGAATCATTCATTCCACAGTTTGCATAATGCTATATGCAAACTGCCTACTCAATGAAGGCCAGTTTCATTCTTTCTGAAAGGCAAAATTTCTGTTACTATAGGATTACTTTGGCAACAAATGTTTCAGAAGCTTTGGGCTTCAGCAACGATTTGGTCTAGTCTGCTGATACTGGAGAAAGCCTGTATGGCTGAACTGTAACACCCAAGGCATTCCACTAGCAGGGGCCTTATTCCCCAAACTACCCTGCCTGCCTCACATGACTCACCCTCCGGTATGGTCAAGGAGTTTGCTTTCCACAAAATTGTAGATGTCTTGGAATTCCTGTTCCCGACAGGGAAGAGACTCAGGTACAGCAGAAACATGCAGCCTACCATTGGTGGTAAACGGGAGAAAAGGAAGACTTTAGGAACATTCCCCAACCATCTACTCATTAATCAATGGAAAATGATTATGGTTTCTTGTCTATGTTTCTACCTGAAAACTCAATTTCAAATGCTAGAGAATCCCTTCATTCTCAAATCCCTCCATTTGGCCTCATAATCCTTGGCCTCCGTTTCTCCACCCAAATCACATGGGTGGACCTCATCCCACAGGAGATTCAGATTTTGCTTGATTTCTGACAGGATCCAGACTTATATGAAAGTCTCCATATGGTTCTAAAGGGCATCAAAACAAAGAGGCACTGTCCTGACTAATCATCTTCCATCCCTGCGGAAATGA 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Task1_train_898 | A variant has been detected on Chromosome 1 in ORC1 (origin recognition complex subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Meier-Gorlin syndrome 1 | AAATAAAATTAGCCAGGCATAGTGGTACACACTTGTAGTCCCAGCTACTTGGGAGACTGAGGAAGGAGGATCATTTGAGCCCAAGAGGTCAAGCCTACAATAAGTCGTGATTGTGCCATTGCATTCCAACCTGGGTGACACAGCAAGACTCTGTCTCAAAAAACAAAAACAAAAAAACCCAGAAAATGGAGCCAAGTGCAGTGATGTACCCTTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAGGATTGCTTGAGCATGATCACTTGAGTTCCAGGCTATAGTGCACTGTGATCACTAACTCAATACTTTCCCATAAATTATCATTTTTATCACATAACCCTTTAGCCCCAGTATTGCCCACGGTGATCCATTCCACAACTTACTGCCAAGCTCCAGCCTCTTTCTGGCTCTTGGGGTAAGAGGATGGGTAGGAGTTTGGCGAGATTTGGAGGCGGAGTGCCTTGATTCAATCCTTTTGGCCACATGTTCTGCTGGGGTCCAAGAAGGGCTCTCTGCACTCTTACTCTTGGCTCTCACGGGTTTCTGGCACTTGGCTGCACTCTCTTGTGGTTTATTCAACTCCGCAAATAGTTCTGAGGAAAGTGGCCTGAATTTCTTCTCATTCCAGGATAGTTTCACAAAGAGTGTCTTCTCATTTTTCAGATTCGTCGGTACCACATCCTTTGGGGCTAAAGGTATCACCTGAATTTAGGAAGTATAGATAAGTAGGAAGAGATGAGCCCCAAGAGAGCCAAGGAGTATTCCATCAGAGCTACAATTAAAAACATTGAAGTCCACATCTGTACCTAAAATGTTACCTTTCCAATCTAAAGACGCATAGACATGGCATAGCATATTGCTAGAAAAACACATAATAATGAATATTTACTGAGTATTTACTCATTTTATCATTAATCACTTTAAAGACATCAGTGAAATAAATTATTCCTTTCATTTCATTTTAAAAATGTTTATTGTTCATCTCTCAATTCCTATTATTATCACCCTAGTTCAAATATGCATCCTCTCACTCCTGGGTTATTTTCACAGATTCCTCCTAGCTGATATTCTTATACCCTACCATTGCTTTCTTTTCCAGTCCATTCTGTTCGCCTATGCCAAGTTTCCCCACAAACTTATCTAAACATGCTCGCCTGCTCAACAGCCAATAATGGCTCCCACTGTAGCAAGACCAAATTACTTAAACTAATTTTTCAATGCCTTCTAAGATCTGGCCTCATTTTACCTACAGAGTGCGCAATACTCCTTGAAGAGGTCTTGTCACAGTCCTGCTATTCCCACCACTGTGCTCCTGCCCAGATGCTCCAAGCCCTGTGCCTCTCCGCGTATACTCATCCTGCTGCCTCAACTTTTGCATCTGCCTCACACTCCTTTAGCTTTCTCTCCTTCACTCATTTAACTCAAAGATAAATTAAGATAATCATGCCAGACGAGAGTCTCTACCCTAACGCTCAATGAACCACATAATCAGCATACAACCACACCTCACATCACAACCTAATCCCATGCTGGGGAGCCTGAAGTCACTTCAGGAAAAACTCATAACCAGTGACTTACTTCAGCCTGCAAACCAGCCGCTCATTAGCACCTGATTTATTAAGAAATCCTGTCATACAAATTTGTCTGTAGCAACTAGCACTCTTTGTACTGATTTACTCAAGGTGCAGTCCTCGTTTAAGCCAGCATATTCAGCCTCACAATGCTTTATGCATGCCACAGTCATAGCTAAATATAACATCCCCCTGAGATACATCTGCTAATTCCTGCTCATCCCTCAGGTCACAACCCAAATGTCACCTCTTGTAGGAGGCTCCTAACACATGATACGTGCTCTCAATAAATATCTGTTGAGATGAAACAGACAGGCAAGCACAGAAGATGACAGGAAATAATGCATTCCCTATGGGGTATTAGAGCCGGTAATATTTCTGGGGTCATGAAGTTCAGGAGGCAGACAGAAATAAGCTTCAAGGTAGAACCAAGGATGGTGGCATCACCTACCCGAACAAGGCCAATGATGGTCTCCGCATTAATGTTGCTGTCACAGGCCGGGTAATCATACCAGAATATTTCCTGTGCACCAGGCTTCCGGCCCAACAAATGCCGTTTACAGGCAGGGACTTCACAGAATCGGACAAACCACTGTACTCGAGCACGTTTCTTAGGAGGAGGATCAGAGTCTAGAAAGAATTTGGTGGAAAGGGAAAGGTTAAGACAACTCAAGGACACTTTACTGAGCAATTCCTATGTGCCAGACACTGTGCTTAACCCTTGACATGTGTGGTTTTGTTTTTTGTTTTTTGAGACAGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCCCCATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTAAAGTGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACCTGCCATCCTACCTGGCTAATTTTTGTATTTTCAGTAGAAACGAGGTCTCACCACGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCACGTGATCTGCCTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACCTCCCGCCAAAATTTTTTTTTTTTTTGTGACGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAGGAGATTCTCCTGGCTCAACCTCCCGAGTAGCTGGGACCACAGGCCTGTGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCCAACATGTGTTATCTTTTATTTTATTTTATTTTTTTGAGACGGAGTCTCACTCTGTCACCTGGACTGGAGTGCAGTGGTTTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAATTAGCTGGGATTACAGGCGCCCGCCATCACGCCCAGCTAATTATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTACCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCCGATCCTTAATCCTTCTAATAACCCTACAAGGTAGGTACTACAGCTATCCCCCTTTTCAGGCAAAGAAATCAAGTGACGGGGGACCTTAAAGAGTTTGTCAAAGGTCACATGACCAACTGCAGCAATCTAATTCCAGCCCACACACCCGCTCTTCTGGGATTGCTCCATTTCCTAATGGTGCTATCAGCCGGCAAAGGAATGACAAAAAGGCCTCTGAGAGGAGCTACTCTAAACACAGGCAACGAACAAATAAAAATCAGTGACTATAAAGACAGCATCAAACAGCAGCAAAACAAAAATCCTAGCAAGAATTATAGCATCAGGCTGGGTGCAGTGGCTCACGTCTGTAATCACAGTACTCTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGCCCAACATGGTGAGACCTCATCTCTGCTAAAAATACAAAAAATTGTCCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGCTCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGACTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGTTGAGGCTGCATGAGC 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AAATAAAATTAGCCAGGCATAGTGGTACACACTTGTAGTCCCAGCTACTTGGGAGACTGAGGAAGGAGGATCATTTGAGCCCAAGAGGTCAAGCCTACAATAAGTCGTGATTGTGCCATTGCATTCCAACCTGGGTGACACAGCAAGACTCTGTCTCAAAAAACAAAAACAAAAAAACCCAGAAAATGGAGCCAAGTGCAGTGATGTACCCTTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAGGATTGCTTGAGCATGATCACTTGAGTTCCAGGCTATAGTGCACTGTGATCACTAACTCAATACTTTCCCATAAATTATCATTTTTATCACATAACCCTTTAGCCCCAGTATTGCCCACGGTGATCCATTCCACAACTTACTGCCAAGCTCCAGCCTCTTTCTGGCTCTTGGGGTAAGAGGATGGGTAGGAGTTTGGCGAGATTTGGAGGCGGAGTGCCTTGATTCAATCCTTTTGGCCACATGTTCTGCTGGGGTCCAAGAAGGGCTCTCTGCACTCTTACTCTTGGCTCTCACGGGTTTCTGGCACTTGGCTGCACTCTCTTGTGGTTTATTCAACTCCGCAAATAGTTCTGAGGAAAGTGGCCTGAATTTCTTCTCATTCCAGGATAGTTTCACAAAGAGTGTCTTCTCATTTTTCAGATTCGTCGGTACCACATCCTTTGGGGCTAAAGGTATCACCTGAATTTAGGAAGTATAGATAAGTAGGAAGAGATGAGCCCCAAGAGAGCCAAGGAGTATTCCATCAGAGCTACAATTAAAAACATTGAAGTCCACATCTGTACCTAAAATGTTACCTTTCCAATCTAAAGACGCATAGACATGGCATAGCATATTGCTAGAAAAACACATAATAATGAATATTTACTGAGTATTTACTCATTTTATCATTAATCACTTTAAAGACATCAGTGAAATAAATTATTCCTTTCATTTCATTTTAAAAATGTTTATTGTTCATCTCTCAATTCCTATTATTATCACCCTAGTTCAAATATGCATCCTCTCACTCCTGGGTTATTTTCACAGATTCCTCCTAGCTGATATTCTTATACCCTACCATTGCTTTCTTTTCCAGTCCATTCTGTTCGCCTATGCCAAGTTTCCCCACAAACTTATCTAAACATGCTCGCCTGCTCAACAGCCAATAATGGCTCCCACTGTAGCAAGACCAAATTACTTAAACTAATTTTTCAATGCCTTCTAAGATCTGGCCTCATTTTACCTACAGAGTGCGCAATACTCCTTGAAGAGGTCTTGTCACAGTCCTGCTATTCCCACCACTGTGCTCCTGCCCAGATGCTCCAAGCCCTGTGCCTCTCCGCGTATACTCATCCTGCTGCCTCAACTTTTGCATCTGCCTCACACTCCTTTAGCTTTCTCTCCTTCACTCATTTAACTCAAAGATAAATTAAGATAATCATGCCAGACGAGAGTCTCTACCCTAACGCTCAATGAACCACATAATCAGCATACAACCACACCTCACATCACAACCTAATCCCATGCTGGGGAGCCTGAAGTCACTTCAGGAAAAACTCATAACCAGTGACTTACTTCAGCCTGCAAACCAGCCGCTCATTAGCACCTGATTTATTAAGAAATCCTGTCATACAAATTTGTCTGTAGCAACTAGCACTCTTTGTACTGATTTACTCAAGGTGCAGTCCTCGTTTAAGCCAGCATATTCAGCCTCACAATGCTTTATGCATGCCACAGTCATAGCTAAATATAACATCCCCCTGAGATACATCTGCTAATTCCTGCTCATCCCTCAGGTCACAACCCAAATGTCACCTCTTGTAGGAGGCTCCTAACACATGATACGTGCTCTCAATAAATATCTGTTGAGATGAAACAGACAGGCAAGCACAGAAGATGACAGGAAATAATGCATTCCCTATGGGGTATTAGAGCCGGTAATATTTCTGGGGTCATGAAGTTCAGGAGGCAGACAGAAATAAGCTTCAAGGTAGAACCAAGGATGGTGGCATCACCTACCCGAACAAGGCCAATGATGGTCCCCGCATTAATGTTGCTGTCACAGGCCGGGTAATCATACCAGAATATTTCCTGTGCACCAGGCTTCCGGCCCAACAAATGCCGTTTACAGGCAGGGACTTCACAGAATCGGACAAACCACTGTACTCGAGCACGTTTCTTAGGAGGAGGATCAGAGTCTAGAAAGAATTTGGTGGAAAGGGAAAGGTTAAGACAACTCAAGGACACTTTACTGAGCAATTCCTATGTGCCAGACACTGTGCTTAACCCTTGACATGTGTGGTTTTGTTTTTTGTTTTTTGAGACAGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCCCCATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTAAAGTGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACCTGCCATCCTACCTGGCTAATTTTTGTATTTTCAGTAGAAACGAGGTCTCACCACGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCACGTGATCTGCCTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACCTCCCGCCAAAATTTTTTTTTTTTTTGTGACGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAGGAGATTCTCCTGGCTCAACCTCCCGAGTAGCTGGGACCACAGGCCTGTGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCCAACATGTGTTATCTTTTATTTTATTTTATTTTTTTGAGACGGAGTCTCACTCTGTCACCTGGACTGGAGTGCAGTGGTTTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAATTAGCTGGGATTACAGGCGCCCGCCATCACGCCCAGCTAATTATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTACCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCCGATCCTTAATCCTTCTAATAACCCTACAAGGTAGGTACTACAGCTATCCCCCTTTTCAGGCAAAGAAATCAAGTGACGGGGGACCTTAAAGAGTTTGTCAAAGGTCACATGACCAACTGCAGCAATCTAATTCCAGCCCACACACCCGCTCTTCTGGGATTGCTCCATTTCCTAATGGTGCTATCAGCCGGCAAAGGAATGACAAAAAGGCCTCTGAGAGGAGCTACTCTAAACACAGGCAACGAACAAATAAAAATCAGTGACTATAAAGACAGCATCAAACAGCAGCAAAACAAAAATCCTAGCAAGAATTATAGCATCAGGCTGGGTGCAGTGGCTCACGTCTGTAATCACAGTACTCTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGCCCAACATGGTGAGACCTCATCTCTGCTAAAAATACAAAAAATTGTCCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGCTCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGACTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGTTGAGGCTGCATGAGC 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Task1_train_899 | Here is a genetic alteration in ORC1 (origin recognition complex subunit 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Meier-Gorlin syndrome 1 | CTCTGCTAAAAATACAAAAAATTGTCCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGCTCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGACTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGTTGAGGCTGCATGAGCTGAGATTGTGCCACTGCACTCCAGTCTGGGTGACACAGCAAGATTCTGTCACTGTCACACACACACACACACACACACACACACAAGAATTACAGCATCAACCACTGAGATGACTTCTGGCAAATGCTTGCAATCTTCAGCTTTATTATTACAGCATACGATTAGTATCACTCCGTACCAGCAATAGCTCCAACCGAAAGAACACTCATTAGTGCCTCATCATCATCCTCTCTTCCCTGCTTAGCTTTCTTCAGAGAAAGACTAAAGTCATCCAATGGAGCACCAAGAGAGGATTCTAGAATCTATACACCGAAGCCCATGATTCTGATGTGCTGCCTCTACTGGACATTAGTTTGATGAGGTTTTTCTCCATACTTCTAAGTATGTCAAAGAGAAAGTATGTCCAAAATCCTCCTTATCTATGTGCAGTACTCTCCCCTTATCTGCTGAGGGTACGCGCCAAGACCAGTAGATGCTTGAACCTGCAGATGCTGCCACTAACCCTGTATATGCTATGATTTTTCCTACACACACATACTGTACAGCACGGATACACTGGACAAAGGGATGACTCACATTTCAGGTGGGACAGCGTGAGATTTCACCACATTACTCACAATGGCACACAATTTAAAGCTTATGACTTGTTTTTTTCTGTAATTTTCCATTTAATATTTTTGGACTATGGTTGTTGTCAGGTAACTGAAATCGCAGAAGGTGAAACCACGGATAAGGGGGACTATAGTAATATAAAACATCTTTATCCACTCAGTCTATCAGTTCCTTCTCTTGGGCATACAGACTACCACAGGATTACCTAATGACCATGCCCTTCTTCTGTCTCTTGAACGAGGCAGTTTTAGATAGTTTCAAATTGCTATCTTCCTAATCCTCCTTGTGGAGCTGTGCCCCACTCCCACATTTCTGTGCTCTCCTCTTGTTTTGCAGAGGGTTAGAAGGTCAGCAAATCAGCTAAGGCTTTCGATGTGGGCTTGTAGGCTCTGGTTGATGCCACCTTCCCTTTTGTTCCTCCAGCCTAGGGGCAGCCGTGGCTTCCTGCACTTACTCATCTCTGGTAAATGTCACCTTTTCTTCTAGCCTTTCCAACATTAACACACAAGTTCCTCTGGGTAAAATATCTTAAGTGTTTTTGTTTTCCCTGACTGAAACCCCAATTGCTACACCTTCCAAATCCAACTTACCTCTTCACTTGTAACGAAGTAGCACTTGCAAAATATATTACTAACCTTCATGCCAAAACTAAAGGACACATCTCTATGATAGTACAAATTACCTGTTTTTTCCTTCTCCCTTTCCCCCAAATTCATCCATTCTCTCCATCCCCCCCAATTCTGCCTTAATAGCCTTGCTTACTCCCCAAAATAATGAAAAAGTTAAATTATTGAGCCTTCCAGTTCCGTTTTACTCAATACTGCTTTGGTGAGTAAAGAAATTTTTTAGATGGAAGAAGACGCAGCTAGTTCTTACGTGATCCCACCTCAGTCTAATGTGCCCTGCACACTGCTGTGAACAAAAGAATCCACAATCTCCCCACCTCCCAATCATTCATGACAAGGAATGGTTTATTATTCCAGTCCCAAACTCACCATCTTCGAACAACTCAAGCAATTTAGCAACATACGGGTTTTCATCATCATCCCCTTCAATCAACACAAACTGTCCAATCTGGATGTGAATCTCGGTGGAACAACCTTCTGTTTTCACACACATTTCTCTAGGAAGTAACAGAGAAGCACATTAGGAAATAACTTAAAGTGGGTCAAGCTCTTCAGATCCCCTGGGCACAAAGGAGAGGGCTCTCCAATCCTGATTTCTTTCTGCTGACCAACTCTCCTACTGGGAAACCAATTCGCCCAGTTATATTTAAGAATAGGCAAAATGGGTTGAATGAATTGTTTTAGCTGAGTAATGAATCCAAAGGTCTTATTAGGAACCCTAATTCCTCTCAGTTATTGACAAAGAACAACAAATGCTTCCCACAACAAATGTTTCCCAAGGCTGTCAAGCTGCCCAGTAACAATGTCAAATTGTCAGAGATCTCCAGGGCTGGGAAAGACATAGTAAAAACATCTATCATCTCGTTTTCATCAAAAGTTATATAGAACTCACCTTAAATAGACATGACATTATCCTACATACAAAATTTTATGAGCCTGCCATAATTTTGCTCCATCACTAACTGCTATATTTATCCCACCATCTTCTTGCATCAAACAAAACCCTCCTTACAATCAGTTCTAATCTCCTGTTCATTCATGGTCAATCTGTAGTAATTAGAACAGGCTAGATACAAGTTGACTGTTTAGCTTGAGAAGCTGTATTTCCAGGACAACCAAAGGACCCCATCACTCACCTATAGGTTTGGTAGTGCAGTTTTCGATCCAACAAGGGCCTGCCAACCCATGAATAAGTTTTTCTGGTCTTCAGCCTTGTGGGGTAGTGTGCCATGGCTTCTGTGGAAGAGTCCAAACTCTGAGTTACCATGATAAATATTTGGTATTTATCTGATGGATTCTAAGACATAGTCAGTCCCTCCCTTCAAATGAGATCAGACTTATTTTCTGCCCCTGCTACACTCCCATACATTTTAGACTAAGAAAACATTTTATTTGAAGTCATGGTCTACGAAGATTACACACAGGCAATTTAGTATCATCTGTGTCCATCTTGTACTATGCCGTATCTCTTTCCATCCAGGAAAACAGAAAGGTCAATTCCTAAGAAATGAAACTGTAACATTTAGAAATACTAGGAATAAGGCAGAACAATAGGTGTAAAACATCTAACAAAGTGAAATTAAAAGACAGTGATACAGGGGTTGTAAATGTCTTCATGACGCTTATAAAATGCACACAAGGATAAAACAGAAATACAAAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGGGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGGTGGGCATGGTGGCAGGCAAATCACTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCGCAACACTGCACTCTAGTCTGGGTGACAGAGCAGAACTCTGTCTCAAAATAAAAAAAAGAAAAGTAGATGTTATTATCACTTCAAGGTGATAACTTATCCTATCTTATACAGGATGGCACAGCCTTAACTCAAACCCGGAAAAGCCAGACTGCAATTACTGTGCTCTTAACTACTTCACCTTACAACACACTGTGTGAAACTGGATAATGTTAATATGTAACTGAGAGCTTGCTTTTGGTGTACTTATTACAATAAATCAGGCTTCCCAGCCACTGACTGAACATTGTGGATTGGGCCTCAATTTGCTTACCCACAAAATGGAGAAAATAGAATCTTCCGTTTATTCAACCAATATTTATTAAGTACCCATCGTGTGCCAGGCACTATTTTAGGATAATGGAAGATTAAGTGAAAAAATGCAAAATGGTAAATCCACTTTCCCACTACCTTAATCCCTTGCATTTATTTGTAAGGTACAGTGGTTTTATTTATTAAGTATCATTTGATGAATACTATGGAACTAACATAATTCAAGCAAAATTTTGCATTCAATTTCGGCAGAT 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CTCTGCTAAAAATACAAAAAATTGTCCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGCTCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGACTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGTTGAGGCTGCATGAGCTGAGATTGTGCCACTGCACTCCAGTCTGGGTGACACAGCAAGATTCTGTCACTGTCACACACACACACACACACACACACACACAAGAATTACAGCATCAACCACTGAGATGACTTCTGGCAAATGCTTGCAATCTTCAGCTTTATTATTACAGCATACGATTAGTATCACTCCGTACCAGCAATAGCTCCAACCGAAAGAACACTCATTAGTGCCTCATCATCATCCTCTCTTCCCTGCTTAGCTTTCTTCAGAGAAAGACTAAAGTCATCCAATGGAGCACCAAGAGAGGATTCTAGAATCTATACACCGAAGCCCATGATTCTGATGTGCTGCCTCTACTGGACATTAGTTTGATGAGGTTTTTCTCCATACTTCTAAGTATGTCAAAGAGAAAGTATGTCCAAAATCCTCCTTATCTATGTGCAGTACTCTCCCCTTATCTGCTGAGGGTACGCGCCAAGACCAGTAGATGCTTGAACCTGCAGATGCTGCCACTAACCCTGTATATGCTATGATTTTTCCTACACACACATACTGTACAGCACGGATACACTGGACAAAGGGATGACTCACATTTCAGGTGGGACAGCGTGAGATTTCACCACATTACTCACAATGGCACACAATTTAAAGCTTATGACTTGTTTTTTTCTGTAATTTTCCATTTAATATTTTTGGACTATGGTTGTTGTCAGGTAACTGAAATCGCAGAAGGTGAAACCACGGATAAGGGGGACTATAGTAATATAAAACATCTTTATCCACTCAGTCTATCAGTTCCTTCTCTTGGGCATACAGACTACCACAGGATTACCTAATGACCATGCCCTTCTTCTGTCTCTTGAACGAGGCAGTTTTAGATAGTTTCAAATTGCTATCTTCCTAATCCTCCTTGTGGAGCTGTGCCCCACTCCCACATTTCTGTGCTCTCCTCTTGTTTTGCAGAGGGTTAGAAGGTCAGCAAATCAGCTAAGGCTTTCGATGTGGGCTTGTAGGCTCTGGTTGATGCCACCTTCCCTTTTGTTCCTCCAGCCTAGGGGCAGCCGTGGCTTCCTGCACTTACTCATCTCTGGTAAATGTCACCTTTTCTTCTAGCCTTTCCAACATTAACACACAAGTTCCTCTGGGTAAAATATCTTAAGTGTTTTTGTTTTCCCTGACTGAAACCCCAATTGCTACACCTTCCAAATCCAACTTACCTCTTCACTTGTAACGAAGTAGCACTTGCAAAATATATTACTAACCTTCATGCCAAAACTAAAGGACACATCTCTATGATAGTACAAATTACCTGTTTTTTCCTTCTCCCTTTCCCCCAAATTCATCCATTCTCTCCATCCCCCCCAATTCTGCCTTAATAGCCTTGCTTACTCCCCAAAATAATGAAAAAGTTAAATTATTGAGCCTTCCAGTTCCGTTTTACTCAATACTGCTTTGGTGAGTAAAGAAATTTTTTAGATGGAAGAAGACGCAGCTAGTTCTTACGTGATCCCACCTCAGTCTAATGTGCCCTGCACACTGCTGTGAACAAAAGAATCCACAATCTCCCCACCTCCCAATCATTCATGACAAGGAATGGTTTATTATTCCAGTCCCAAACTCACCATCTTTGAACAACTCAAGCAATTTAGCAACATACGGGTTTTCATCATCATCCCCTTCAATCAACACAAACTGTCCAATCTGGATGTGAATCTCGGTGGAACAACCTTCTGTTTTCACACACATTTCTCTAGGAAGTAACAGAGAAGCACATTAGGAAATAACTTAAAGTGGGTCAAGCTCTTCAGATCCCCTGGGCACAAAGGAGAGGGCTCTCCAATCCTGATTTCTTTCTGCTGACCAACTCTCCTACTGGGAAACCAATTCGCCCAGTTATATTTAAGAATAGGCAAAATGGGTTGAATGAATTGTTTTAGCTGAGTAATGAATCCAAAGGTCTTATTAGGAACCCTAATTCCTCTCAGTTATTGACAAAGAACAACAAATGCTTCCCACAACAAATGTTTCCCAAGGCTGTCAAGCTGCCCAGTAACAATGTCAAATTGTCAGAGATCTCCAGGGCTGGGAAAGACATAGTAAAAACATCTATCATCTCGTTTTCATCAAAAGTTATATAGAACTCACCTTAAATAGACATGACATTATCCTACATACAAAATTTTATGAGCCTGCCATAATTTTGCTCCATCACTAACTGCTATATTTATCCCACCATCTTCTTGCATCAAACAAAACCCTCCTTACAATCAGTTCTAATCTCCTGTTCATTCATGGTCAATCTGTAGTAATTAGAACAGGCTAGATACAAGTTGACTGTTTAGCTTGAGAAGCTGTATTTCCAGGACAACCAAAGGACCCCATCACTCACCTATAGGTTTGGTAGTGCAGTTTTCGATCCAACAAGGGCCTGCCAACCCATGAATAAGTTTTTCTGGTCTTCAGCCTTGTGGGGTAGTGTGCCATGGCTTCTGTGGAAGAGTCCAAACTCTGAGTTACCATGATAAATATTTGGTATTTATCTGATGGATTCTAAGACATAGTCAGTCCCTCCCTTCAAATGAGATCAGACTTATTTTCTGCCCCTGCTACACTCCCATACATTTTAGACTAAGAAAACATTTTATTTGAAGTCATGGTCTACGAAGATTACACACAGGCAATTTAGTATCATCTGTGTCCATCTTGTACTATGCCGTATCTCTTTCCATCCAGGAAAACAGAAAGGTCAATTCCTAAGAAATGAAACTGTAACATTTAGAAATACTAGGAATAAGGCAGAACAATAGGTGTAAAACATCTAACAAAGTGAAATTAAAAGACAGTGATACAGGGGTTGTAAATGTCTTCATGACGCTTATAAAATGCACACAAGGATAAAACAGAAATACAAAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGGGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGGTGGGCATGGTGGCAGGCAAATCACTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCGCAACACTGCACTCTAGTCTGGGTGACAGAGCAGAACTCTGTCTCAAAATAAAAAAAAGAAAAGTAGATGTTATTATCACTTCAAGGTGATAACTTATCCTATCTTATACAGGATGGCACAGCCTTAACTCAAACCCGGAAAAGCCAGACTGCAATTACTGTGCTCTTAACTACTTCACCTTACAACACACTGTGTGAAACTGGATAATGTTAATATGTAACTGAGAGCTTGCTTTTGGTGTACTTATTACAATAAATCAGGCTTCCCAGCCACTGACTGAACATTGTGGATTGGGCCTCAATTTGCTTACCCACAAAATGGAGAAAATAGAATCTTCCGTTTATTCAACCAATATTTATTAAGTACCCATCGTGTGCCAGGCACTATTTTAGGATAATGGAAGATTAAGTGAAAAAATGCAAAATGGTAAATCCACTTTCCCACTACCTTAATCCCTTGCATTTATTTGTAAGGTACAGTGGTTTTATTTATTAAGTATCATTTGATGAATACTATGGAACTAACATAATTCAAGCAAAATTTTGCATTCAATTTCGGCAGAT 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