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_6900 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Recessive dystrophic epidermolysis bullosa | ACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACC | ACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCTCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACC |
Task1_train_6901 | This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Epidermolysis bullosa dystrophica | AGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGT | AGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCTAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGT |
Task1_train_6902 | A variant was discovered in gene COL7A1 (collagen type VII alpha 1 chain), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Recessive dystrophic epidermolysis bullosa | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT |
Task1_train_6903 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epidermolysis bullosa pruriginosa | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT |
Task1_train_6904 | An alteration has been detected in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Nonsyndromic congenital nail disorder 8 | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT |
Task1_train_6905 | The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Transient bullous dermolysis of the newborn | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT |
Task1_train_6906 | A mutation in COL7A1 (collagen type VII alpha 1 chain), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Pretibial dystrophic epidermolysis bullosa | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT |
Task1_train_6907 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT |
Task1_train_6908 | A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT |
Task1_train_6909 | Consider this mutation in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Epidermolysis bullosa | CCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGT | CCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGGCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGT |
Task1_train_6910 | Given a variant located on Chromosome 3 and affecting COL7A1 (collagen type VII alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | GACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAG | GACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCTGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAG |
Task1_train_6911 | A variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | GACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAG | GACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCTGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAG |
Task1_train_6912 | The following genetic variant occurs in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Recessive dystrophic epidermolysis bullosa | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT |
Task1_train_6913 | Consider a variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Pretibial dystrophic epidermolysis bullosa | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT |
Task1_train_6914 | Consider this mutation in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT |
Task1_train_6915 | A variant was discovered in gene COL7A1 (collagen type VII alpha 1 chain), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Transient bullous dermolysis of the newborn | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT |
Task1_train_6916 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Epidermolysis bullosa pruriginosa | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT |
Task1_train_6917 | The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Nonsyndromic congenital nail disorder 8 | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT |
Task1_train_6918 | This mutation is located in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT |
Task1_train_6919 | This gene mutation involves COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Recessive dystrophic epidermolysis bullosa | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT |
Task1_train_6920 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Recessive dystrophic epidermolysis bullosa | ACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTA | ACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCACAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTA |
Task1_train_6921 | This sequence variant lies in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not specified | ACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTA | ACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCACAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTA |
Task1_train_6922 | The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Epidermolysis bullosa dystrophica | CCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTC | CCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCCGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTC |
Task1_train_6923 | This genomic variant is located on Chromosome 3, within the COL7A1 (collagen type VII alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Epidermolysis bullosa dystrophica | CCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGG | CCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCTAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGG |
Task1_train_6924 | A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGG | GTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGTCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGG |
Task1_train_6925 | A mutation found in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Nonsyndromic congenital nail disorder 8 | TGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGT | TGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCTACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGT |
Task1_train_6926 | The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGT | TGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCTACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGT |
Task1_train_6927 | This gene mutation involves COL7A1, MIR711 (collagen type VII alpha 1 chain| microRNA 711) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Epidermolysis bullosa dystrophica | CTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAG | CTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCTAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAG |
Task1_train_6928 | This variant affects the gene COL7A1, MIR711 (collagen type VII alpha 1 chain| microRNA 711) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Epidermolysis bullosa dystrophica | ATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAA | ATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCATCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAA |
Task1_train_6929 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | GTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTG | GTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCTGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTG |
Task1_train_6930 | This alteration occurs within gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Epidermolysis bullosa dystrophica | CATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCA | CATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCTCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCA |
Task1_train_6931 | This sequence variant lies in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | GCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCC | GCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGAACCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCC |
Task1_train_6932 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | AACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCA | AACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCATCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCA |
Task1_train_6933 | Given this context: Chromosome 3, gene COL7A1 (collagen type VII alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGG | TGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTTCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGG |
Task1_train_6934 | With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | GCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGT | GCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCTTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGT |
Task1_train_6935 | This gene mutation involves COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTA | TAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACTTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTA |
Task1_train_6936 | The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGG | GTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCACCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGG |
Task1_train_6937 | This alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | AGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCAT | AGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGTCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCAT |
Task1_train_6938 | The following genetic variant occurs in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Nonsyndromic congenital nail disorder 8 | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG |
Task1_train_6939 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Transient bullous dermolysis of the newborn | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG |
Task1_train_6940 | Located on Chromosome 3, this mutation impacts COL7A1 (collagen type VII alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG |
Task1_train_6941 | A genetic alteration is present in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Epidermolysis bullosa pruriginosa | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG |
Task1_train_6942 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Pretibial dystrophic epidermolysis bullosa | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG |
Task1_train_6943 | Consider a variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG |
Task1_train_6944 | A variant found in Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG |
Task1_train_6945 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG |
Task1_train_6946 | Gene COL7A1 (collagen type VII alpha 1 chain), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAA | ACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACGCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAA |
Task1_train_6947 | The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCT | CTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCTAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCT |
Task1_train_6948 | Mutation context: Chromosome 3, Gene COL7A1 (collagen type VII alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCC | TCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTTCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCC |
Task1_train_6949 | A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | AAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGT | AAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTGCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGT |
Task1_train_6950 | This sequence change occurs on Chromosome 3, altering COL7A1 (collagen type VII alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | ACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAA | ACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGATCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAA |
Task1_train_6951 | An alteration has been detected in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Nonsyndromic congenital nail disorder 8 | GGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATT | GGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACGCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATT |
Task1_train_6952 | A mutation on Chromosome 3 affecting COL7A1 (collagen type VII alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Recessive dystrophic epidermolysis bullosa | GGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATT | GGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACGCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATT |
Task1_train_6953 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | GCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGAC | GCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCTTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGAC |
Task1_train_6954 | This variant lies on Chromosome 3 and affects the gene COL7A1 (collagen type VII alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATG | AAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTTCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATG |
Task1_train_6955 | Assess the clinical impact of this variant on gene COL7A1 (collagen type VII alpha 1 chain), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Transient bullous dermolysis of the newborn | AAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTG | AAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCTCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTG |
Task1_train_6956 | A genomic change on Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Transient bullous dermolysis of the newborn | GGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCAC | GGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGATCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCAC |
Task1_train_6957 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Pretibial dystrophic epidermolysis bullosa | GAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCC | GAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGTCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCC |
Task1_train_6958 | Given this variant in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Recessive dystrophic epidermolysis bullosa | GAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCC | GAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGTCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCC |
Task1_train_6959 | Consider this mutation in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Epidermolysis bullosa dystrophica | GATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGG | GATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCATCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGG |
Task1_train_6960 | The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGG | TGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACTCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGG |
Task1_train_6961 | With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Epidermolysis bullosa dystrophica | AGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAG | AGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCTCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAG |
Task1_train_6962 | A genomic change on Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Recessive dystrophic epidermolysis bullosa | ACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCC | ACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCACTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCC |
Task1_train_6963 | Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | ACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCC | ACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCGCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCC |
Task1_train_6964 | Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Epidermolysis bullosa dystrophica | GCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCT | GCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGTCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCT |
Task1_train_6965 | This genomic variant is located on Chromosome 3, within the COL7A1 (collagen type VII alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | GCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAG | GCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCTGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAG |
Task1_train_6966 | A mutation found in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Epidermolysis bullosa dystrophica | AGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAGGGGAACAAGTTACTGAAGCGGGCAGCCCACCCAGACACACCTTTCTGCCCTTCCCACTACGCCCACTATACCTGGCGTCTGTGTGACAGATGCCTCAGGACCCCGCACACCATCCAGGACAGGCGTCAGGGAGAAGATGTAAGAGACGCCAGGCTCTAGCCCTGTCACCCGCTGGGAGCTTGAGATCCCTGGAAGTGTCTGCGGGGACCCAGGCACTTCTGCAGGAGACAGAACTTGATTAAAAAGCTGTCTCCACAGAGCCCCAACTGCCAGCCCACCCAAATCCTGGCCTCCCCCTCACCCTGGCCAGGGCCTCTGAGTGGCCGCCAGGATAGGATGTAGCTGGATGCCCTGGACACTGGAGTCCAGGCCAAAGTCACCGAGTCGATCGAGGTGTCCACCACACGTAGTTCAATGCTTGGAACACGAGGTGACTCTGAAGGAGGAATGAAAGATCGAGGATCAGAGGCTGAGTCCTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCCCAGGACCCGGGACTGTTCCTGGCCACCTGGGGCAGGCGTGAGGGTGGGGGCCAAGAGCATGTGGGATAGTGACACCTGGGGGCATTAAAGGGCCTGCCCACTTCACTGGCTCTGTTAACTGGGTTCACCCTCCTGACTGATCTTCCTCATCCTCACTGACCCTGCCCACTTTACGGACCCTGCCAGACTGACCCTCCATGAACTCATTGATCCCACCCACTTCATTGATTGATCTTACCTACTGTCACGGATCCCGCAGACCCCCAGTGACAGACCCCGCCCACCATCACTGTCCTCGCCTACCTTGCGGAGTCTGCCACAGCCCTGCCCCCAATGGTCCCTAACTTCCTCCTGGGGACACCTCTCACCCTCAGGTTGCCAGTGCAGAAGGAAGCCCTGCGCTCTGGGCACCGGCTCCCAGCGCAGCCTCAGCGAGTGCTCCCCGCGCTGCACCACGTGAAGCGTCCCCAGGGCTGGCGGAGCCTCAGGCGCTGGAGAGAAAGCTCAGGAATCAGGGAGGCTCTGCCCCCATGGCCCCTGCACCAATCCCAGGCCCACCCTGGCACACGCACCCCGCCCAGCCTCTCAGACCCCTCTCCCTCCTCTCAGACCCTGCCCCCAAAGGCTCACTACCAATCCTGGTCCTTTCTCCAATCCAGAGCACAAGCCCGGATCCCCAAACCATCCACACCACCCATCCGAAGCTCTCCAGCGCATGCTCTGCCTACGCGTAGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCAGCCTCGACACACGACCCACAGGCTCAGGGGCTGGGGACAGAGGCAAGGTAAGGGGTCCTGGTAGAGAACAGAGAGGCAGTGCAGGAATGGTTGACGCAGGGGTGATCTGAAAGTCAGTGTGAGGTTAGTGTGGACAGGTCACTTTAGGCAGCCCTGAGGAGGAGGAGGTCAGTGCCTTGGGGTGGGCAGTGTGGGGCCACCAGGAGGTCACCGTGGGTGGACACTTAATCAGTGTGGGGTGGGTCAGTGTGGACAGGACAGTCACTGAGCAGGGGGGTGGAGGCAGCTGGGCAATCAGGAACACACAGCAGGGCAGGGTAGCTAATGCGGTGTGGCTAGTAGCTGGCCAGGGTCCACTCACCAGTCCTCACAACCACAGAGGCAGGGGGCCCATCCACGCCAGCCACATGGGCCCTCACATGCACCGTATACTCAGTATCTGGCTCCAGTCCATCCAGCTCAGCCACCGTGGCCTCCCCAGAAACCAACTGGGATTTCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGG | AGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAGGGGAACAAGTTACTGAAGCGGGCAGCCCACCCAGACACACCTTTCTGCCCTTCCCACTACGCCCACTATACCTGGCGTCTGTGTGACAGATGCCTCAGGACCCCGCACACCATCCAGGACAGGCGTCAGGGAGAAGATGTAAGAGACGCCAGGCTCTAGCCCTGTCACCCGCTGGGAGCTTGAGATCCCTGGAAGTGTCTGCGGGGACCCAGGCACTTCTGCAGGAGACAGAACTTGATTAAAAAGCTGTCTCCACAGAGCCCCAACTGCCAGCCCACCCAAATCCTGGCCTCCCCCTCACCCTGGCCAGGGCCTCTGAGTGGCCGCCAGGATAGGATGTAGCTGGATGCCCTGGACACTGGAGTCCAGGCCAAAGTCACCGAGTCGATCGAGGTGTCCACCACACGTAGTTCAATGCTTGGAACACGAGGTGACTCTGAAGGAGGAATGAAAGATCGAGGATCAGAGGCTGAGTCCTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCTCAGGACCCGGGACTGTTCCTGGCCACCTGGGGCAGGCGTGAGGGTGGGGGCCAAGAGCATGTGGGATAGTGACACCTGGGGGCATTAAAGGGCCTGCCCACTTCACTGGCTCTGTTAACTGGGTTCACCCTCCTGACTGATCTTCCTCATCCTCACTGACCCTGCCCACTTTACGGACCCTGCCAGACTGACCCTCCATGAACTCATTGATCCCACCCACTTCATTGATTGATCTTACCTACTGTCACGGATCCCGCAGACCCCCAGTGACAGACCCCGCCCACCATCACTGTCCTCGCCTACCTTGCGGAGTCTGCCACAGCCCTGCCCCCAATGGTCCCTAACTTCCTCCTGGGGACACCTCTCACCCTCAGGTTGCCAGTGCAGAAGGAAGCCCTGCGCTCTGGGCACCGGCTCCCAGCGCAGCCTCAGCGAGTGCTCCCCGCGCTGCACCACGTGAAGCGTCCCCAGGGCTGGCGGAGCCTCAGGCGCTGGAGAGAAAGCTCAGGAATCAGGGAGGCTCTGCCCCCATGGCCCCTGCACCAATCCCAGGCCCACCCTGGCACACGCACCCCGCCCAGCCTCTCAGACCCCTCTCCCTCCTCTCAGACCCTGCCCCCAAAGGCTCACTACCAATCCTGGTCCTTTCTCCAATCCAGAGCACAAGCCCGGATCCCCAAACCATCCACACCACCCATCCGAAGCTCTCCAGCGCATGCTCTGCCTACGCGTAGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCAGCCTCGACACACGACCCACAGGCTCAGGGGCTGGGGACAGAGGCAAGGTAAGGGGTCCTGGTAGAGAACAGAGAGGCAGTGCAGGAATGGTTGACGCAGGGGTGATCTGAAAGTCAGTGTGAGGTTAGTGTGGACAGGTCACTTTAGGCAGCCCTGAGGAGGAGGAGGTCAGTGCCTTGGGGTGGGCAGTGTGGGGCCACCAGGAGGTCACCGTGGGTGGACACTTAATCAGTGTGGGGTGGGTCAGTGTGGACAGGACAGTCACTGAGCAGGGGGGTGGAGGCAGCTGGGCAATCAGGAACACACAGCAGGGCAGGGTAGCTAATGCGGTGTGGCTAGTAGCTGGCCAGGGTCCACTCACCAGTCCTCACAACCACAGAGGCAGGGGGCCCATCCACGCCAGCCACATGGGCCCTCACATGCACCGTATACTCAGTATCTGGCTCCAGTCCATCCAGCTCAGCCACCGTGGCCTCCCCAGAAACCAACTGGGATTTCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGG |
Task1_train_6967 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epidermolysis bullosa dystrophica | GGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAGGGGAACAAGTTACTGAAGCGGGCAGCCCACCCAGACACACCTTTCTGCCCTTCCCACTACGCCCACTATACCTGGCGTCTGTGTGACAGATGCCTCAGGACCCCGCACACCATCCAGGACAGGCGTCAGGGAGAAGATGTAAGAGACGCCAGGCTCTAGCCCTGTCACCCGCTGGGAGCTTGAGATCCCTGGAAGTGTCTGCGGGGACCCAGGCACTTCTGCAGGAGACAGAACTTGATTAAAAAGCTGTCTCCACAGAGCCCCAACTGCCAGCCCACCCAAATCCTGGCCTCCCCCTCACCCTGGCCAGGGCCTCTGAGTGGCCGCCAGGATAGGATGTAGCTGGATGCCCTGGACACTGGAGTCCAGGCCAAAGTCACCGAGTCGATCGAGGTGTCCACCACACGTAGTTCAATGCTTGGAACACGAGGTGACTCTGAAGGAGGAATGAAAGATCGAGGATCAGAGGCTGAGTCCTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCCCAGGACCCGGGACTGTTCCTGGCCACCTGGGGCAGGCGTGAGGGTGGGGGCCAAGAGCATGTGGGATAGTGACACCTGGGGGCATTAAAGGGCCTGCCCACTTCACTGGCTCTGTTAACTGGGTTCACCCTCCTGACTGATCTTCCTCATCCTCACTGACCCTGCCCACTTTACGGACCCTGCCAGACTGACCCTCCATGAACTCATTGATCCCACCCACTTCATTGATTGATCTTACCTACTGTCACGGATCCCGCAGACCCCCAGTGACAGACCCCGCCCACCATCACTGTCCTCGCCTACCTTGCGGAGTCTGCCACAGCCCTGCCCCCAATGGTCCCTAACTTCCTCCTGGGGACACCTCTCACCCTCAGGTTGCCAGTGCAGAAGGAAGCCCTGCGCTCTGGGCACCGGCTCCCAGCGCAGCCTCAGCGAGTGCTCCCCGCGCTGCACCACGTGAAGCGTCCCCAGGGCTGGCGGAGCCTCAGGCGCTGGAGAGAAAGCTCAGGAATCAGGGAGGCTCTGCCCCCATGGCCCCTGCACCAATCCCAGGCCCACCCTGGCACACGCACCCCGCCCAGCCTCTCAGACCCCTCTCCCTCCTCTCAGACCCTGCCCCCAAAGGCTCACTACCAATCCTGGTCCTTTCTCCAATCCAGAGCACAAGCCCGGATCCCCAAACCATCCACACCACCCATCCGAAGCTCTCCAGCGCATGCTCTGCCTACGCGTAGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCAGCCTCGACACACGACCCACAGGCTCAGGGGCTGGGGACAGAGGCAAGGTAAGGGGTCCTGGTAGAGAACAGAGAGGCAGTGCAGGAATGGTTGACGCAGGGGTGATCTGAAAGTCAGTGTGAGGTTAGTGTGGACAGGTCACTTTAGGCAGCCCTGAGGAGGAGGAGGTCAGTGCCTTGGGGTGGGCAGTGTGGGGCCACCAGGAGGTCACCGTGGGTGGACACTTAATCAGTGTGGGGTGGGTCAGTGTGGACAGGACAGTCACTGAGCAGGGGGGTGGAGGCAGCTGGGCAATCAGGAACACACAGCAGGGCAGGGTAGCTAATGCGGTGTGGCTAGTAGCTGGCCAGGGTCCACTCACCAGTCCTCACAACCACAGAGGCAGGGGGCCCATCCACGCCAGCCACATGGGCCCTCACATGCACCGTATACTCAGTATCTGGCTCCAGTCCATCCAGCTCAGCCACCGTGGCCTCCCCAGAAACCAACTGGGATTTCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGAGTCTTAGGAGAGAAGCGGAGGAATCTGAATACGGGGAGGGCTTAAGGGGAGACAGCTGAAACTGAAGAGGAAGCAGCGTCTCTGAGGGAGGAGGGAGTGGGATTCTGAAGGGGGAGGCAGGAGTTCTGGGGAGAAGCAAGGGTCTGCAAGGGAAGGCATGGGGGTCTGAAAGAGCAATGGAGGCAGAGAGCCAAGGGACGGGGGCAGGGCCTGACCCGTTCGAGCCACGATGACTGCAGCAGGGCCCTCCTCTCTGCCTCGCAGTACCGACACAGCCACCTGGTAGGTGGTTCCAGGCTGCAGCCCTGTGATGTCTGTGGCAGTAGAGTCTGGGGGCAGTGTCTGGCTGGACTCCGGACCTGAGGTCAGAGGGAAATGCTGGCATGGCTCCTGCCTGTCCCCTCTGGCACCCATACCCTCATTGGTCCCTTTGGCAGTCCCCCCACACACCCCA | GGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAGGGGAACAAGTTACTGAAGCGGGCAGCCCACCCAGACACACCTTTCTGCCCTTCCCACTACGCCCACTATACCTGGCGTCTGTGTGACAGATGCCTCAGGACCCCGCACACCATCCAGGACAGGCGTCAGGGAGAAGATGTAAGAGACGCCAGGCTCTAGCCCTGTCACCCGCTGGGAGCTTGAGATCCCTGGAAGTGTCTGCGGGGACCCAGGCACTTCTGCAGGAGACAGAACTTGATTAAAAAGCTGTCTCCACAGAGCCCCAACTGCCAGCCCACCCAAATCCTGGCCTCCCCCTCACCCTGGCCAGGGCCTCTGAGTGGCCGCCAGGATAGGATGTAGCTGGATGCCCTGGACACTGGAGTCCAGGCCAAAGTCACCGAGTCGATCGAGGTGTCCACCACACGTAGTTCAATGCTTGGAACACGAGGTGACTCTGAAGGAGGAATGAAAGATCGAGGATCAGAGGCTGAGTCCTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCCCAGGACCCGGGACTGTTCCTGGCCACCTGGGGCAGGCGTGAGGGTGGGGGCCAAGAGCATGTGGGATAGTGACACCTGGGGGCATTAAAGGGCCTGCCCACTTCACTGGCTCTGTTAACTGGGTTCACCCTCCTGACTGATCTTCCTCATCCTCACTGACCCTGCCCACTTTACGGACCCTGCCAGACTGACCCTCCATGAACTCATTGATCCCACCCACTTCATTGATTGATCTTACCTACTGTCACGGATCCCGCAGACCCCCAGTGACAGACCCCGCCCACCATCACTGTCCTCGCCTACCTTGCGGAGTCTGCCACAGCCCTGCCCCCAATGGTCCCTAACTTCCTCCTGGGGACACCTCTCACCCTCAGGTTGCCAGTGCAGAAGGAAGCCCTGCGCTCTGGGCACCGGCTCCCAGCGCAGCCTCAGCGAGTGCTCCCCGCGCTGCACCACGTGAAGCGTCCCCAGGGCTGGCGGAGCCTCAGGCCCTGGAGAGAAAGCTCAGGAATCAGGGAGGCTCTGCCCCCATGGCCCCTGCACCAATCCCAGGCCCACCCTGGCACACGCACCCCGCCCAGCCTCTCAGACCCCTCTCCCTCCTCTCAGACCCTGCCCCCAAAGGCTCACTACCAATCCTGGTCCTTTCTCCAATCCAGAGCACAAGCCCGGATCCCCAAACCATCCACACCACCCATCCGAAGCTCTCCAGCGCATGCTCTGCCTACGCGTAGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCAGCCTCGACACACGACCCACAGGCTCAGGGGCTGGGGACAGAGGCAAGGTAAGGGGTCCTGGTAGAGAACAGAGAGGCAGTGCAGGAATGGTTGACGCAGGGGTGATCTGAAAGTCAGTGTGAGGTTAGTGTGGACAGGTCACTTTAGGCAGCCCTGAGGAGGAGGAGGTCAGTGCCTTGGGGTGGGCAGTGTGGGGCCACCAGGAGGTCACCGTGGGTGGACACTTAATCAGTGTGGGGTGGGTCAGTGTGGACAGGACAGTCACTGAGCAGGGGGGTGGAGGCAGCTGGGCAATCAGGAACACACAGCAGGGCAGGGTAGCTAATGCGGTGTGGCTAGTAGCTGGCCAGGGTCCACTCACCAGTCCTCACAACCACAGAGGCAGGGGGCCCATCCACGCCAGCCACATGGGCCCTCACATGCACCGTATACTCAGTATCTGGCTCCAGTCCATCCAGCTCAGCCACCGTGGCCTCCCCAGAAACCAACTGGGATTTCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGAGTCTTAGGAGAGAAGCGGAGGAATCTGAATACGGGGAGGGCTTAAGGGGAGACAGCTGAAACTGAAGAGGAAGCAGCGTCTCTGAGGGAGGAGGGAGTGGGATTCTGAAGGGGGAGGCAGGAGTTCTGGGGAGAAGCAAGGGTCTGCAAGGGAAGGCATGGGGGTCTGAAAGAGCAATGGAGGCAGAGAGCCAAGGGACGGGGGCAGGGCCTGACCCGTTCGAGCCACGATGACTGCAGCAGGGCCCTCCTCTCTGCCTCGCAGTACCGACACAGCCACCTGGTAGGTGGTTCCAGGCTGCAGCCCTGTGATGTCTGTGGCAGTAGAGTCTGGGGGCAGTGTCTGGCTGGACTCCGGACCTGAGGTCAGAGGGAAATGCTGGCATGGCTCCTGCCTGTCCCCTCTGGCACCCATACCCTCATTGGTCCCTTTGGCAGTCCCCCCACACACCCCA |
Task1_train_6968 | A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCCCAGGACCCGGGACTGTTCCTGGCCACCTGGGGCAGGCGTGAGGGTGGGGGCCAAGAGCATGTGGGATAGTGACACCTGGGGGCATTAAAGGGCCTGCCCACTTCACTGGCTCTGTTAACTGGGTTCACCCTCCTGACTGATCTTCCTCATCCTCACTGACCCTGCCCACTTTACGGACCCTGCCAGACTGACCCTCCATGAACTCATTGATCCCACCCACTTCATTGATTGATCTTACCTACTGTCACGGATCCCGCAGACCCCCAGTGACAGACCCCGCCCACCATCACTGTCCTCGCCTACCTTGCGGAGTCTGCCACAGCCCTGCCCCCAATGGTCCCTAACTTCCTCCTGGGGACACCTCTCACCCTCAGGTTGCCAGTGCAGAAGGAAGCCCTGCGCTCTGGGCACCGGCTCCCAGCGCAGCCTCAGCGAGTGCTCCCCGCGCTGCACCACGTGAAGCGTCCCCAGGGCTGGCGGAGCCTCAGGCGCTGGAGAGAAAGCTCAGGAATCAGGGAGGCTCTGCCCCCATGGCCCCTGCACCAATCCCAGGCCCACCCTGGCACACGCACCCCGCCCAGCCTCTCAGACCCCTCTCCCTCCTCTCAGACCCTGCCCCCAAAGGCTCACTACCAATCCTGGTCCTTTCTCCAATCCAGAGCACAAGCCCGGATCCCCAAACCATCCACACCACCCATCCGAAGCTCTCCAGCGCATGCTCTGCCTACGCGTAGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCAGCCTCGACACACGACCCACAGGCTCAGGGGCTGGGGACAGAGGCAAGGTAAGGGGTCCTGGTAGAGAACAGAGAGGCAGTGCAGGAATGGTTGACGCAGGGGTGATCTGAAAGTCAGTGTGAGGTTAGTGTGGACAGGTCACTTTAGGCAGCCCTGAGGAGGAGGAGGTCAGTGCCTTGGGGTGGGCAGTGTGGGGCCACCAGGAGGTCACCGTGGGTGGACACTTAATCAGTGTGGGGTGGGTCAGTGTGGACAGGACAGTCACTGAGCAGGGGGGTGGAGGCAGCTGGGCAATCAGGAACACACAGCAGGGCAGGGTAGCTAATGCGGTGTGGCTAGTAGCTGGCCAGGGTCCACTCACCAGTCCTCACAACCACAGAGGCAGGGGGCCCATCCACGCCAGCCACATGGGCCCTCACATGCACCGTATACTCAGTATCTGGCTCCAGTCCATCCAGCTCAGCCACCGTGGCCTCCCCAGAAACCAACTGGGATTTCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGAGTCTTAGGAGAGAAGCGGAGGAATCTGAATACGGGGAGGGCTTAAGGGGAGACAGCTGAAACTGAAGAGGAAGCAGCGTCTCTGAGGGAGGAGGGAGTGGGATTCTGAAGGGGGAGGCAGGAGTTCTGGGGAGAAGCAAGGGTCTGCAAGGGAAGGCATGGGGGTCTGAAAGAGCAATGGAGGCAGAGAGCCAAGGGACGGGGGCAGGGCCTGACCCGTTCGAGCCACGATGACTGCAGCAGGGCCCTCCTCTCTGCCTCGCAGTACCGACACAGCCACCTGGTAGGTGGTTCCAGGCTGCAGCCCTGTGATGTCTGTGGCAGTAGAGTCTGGGGGCAGTGTCTGGCTGGACTCCGGACCTGAGGTCAGAGGGAAATGCTGGCATGGCTCCTGCCTGTCCCCTCTGGCACCCATACCCTCATTGGTCCCTTTGGCAGTCCCCCCACACACCCCACACTGACCACTGCCTGTGCTCCAGCTAATCCGAAATCCACTGGCTCCAGGGACGGGTCCCCAGGCCACCCTCACTCGCGTTGCATCTGACACCACAACCCGCAGCCCTGGAACAGCAAGTGGAGTTTCCGGCTCTAGGAGTTACAGACAGAAGTCAGAAGTCAGAACCAGGACCAGAGTGAGGCAGGCAGCTGTCCTCCACAAGCCTCCTGCAGTACTCACCCCGGCGGACAGTGAGGACACTGGCACTGCCCTCACGGGGACCCACTCGAGCAGACACCCGCACAGTGTAGCTAAGCCCAGCCTGAACGTCATCCAAGTCGAATGCTGTCTGACTCCCAGGAAGCACCAGGGTCCGCTCAACCCCTAAGAGAGAAGTCAGGGTAGGTGGGCAGGGGTCAGAAAGAGACAGGGATGTGGGACGATGGCAGTGATGGACAGGGACGCAGAGTGAGAAGGGCCATGGGGGTGGGGATGTGGGGTGGTGGGGACCAGAGAGCTGGGATATGGCTGAAAAAAGTGAGTGCAAGACAAGGACATAGGATGAAAGGGGCCAGTGATGGTCAGGGACACTGGAGGACAGGAGTCTGTGGGATCTTAGCATGTAGGATGACAGGAGTCAGTGGACTGCAGTGAGAACTGATGAGCCATTGACAGACACTGATGTGGGATGGCAGAGGTCAGTGCTGGATGGGGACATGCAATGAGAGGTTGGTGTACAGTGGTCACCACTAGGGTAACAGAAAGACAGGTGATTGAGCTTGTGGCTGTGCAGAGGTGAAAGCCGTGGATGGGGTGTGGGGCAGGGAGGAGATTGGTTGGGGTAGGGTAGGGGCAGACACACCCTGTTGACAGTTCAGGGCTCAGTGCCATCTTGGGAAGCAGATGGATAACGAGACAGGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTG | CTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCCCAGGACCCGGGACTGTTCCTGGCCACCTGGGGCAGGCGTGAGGGTGGGGGCCAAGAGCATGTGGGATAGTGACACCTGGGGGCATTAAAGGGCCTGCCCACTTCACTGGCTCTGTTAACTGGGTTCACCCTCCTGACTGATCTTCCTCATCCTCACTGACCCTGCCCACTTTACGGACCCTGCCAGACTGACCCTCCATGAACTCATTGATCCCACCCACTTCATTGATTGATCTTACCTACTGTCACGGATCCCGCAGACCCCCAGTGACAGACCCCGCCCACCATCACTGTCCTCGCCTACCTTGCGGAGTCTGCCACAGCCCTGCCCCCAATGGTCCCTAACTTCCTCCTGGGGACACCTCTCACCCTCAGGTTGCCAGTGCAGAAGGAAGCCCTGCGCTCTGGGCACCGGCTCCCAGCGCAGCCTCAGCGAGTGCTCCCCGCGCTGCACCACGTGAAGCGTCCCCAGGGCTGGCGGAGCCTCAGGCGCTGGAGAGAAAGCTCAGGAATCAGGGAGGCTCTGCCCCCATGGCCCCTGCACCAATCCCAGGCCCACCCTGGCACACGCACCCCGCCCAGCCTCTCAGACCCCTCTCCCTCCTCTCAGACCCTGCCCCCAAAGGCTCACTACCAATCCTGGTCCTTTCTCCAATCCAGAGCACAAGCCCGGATCCCCAAACCATCCACACCACCCATCCGAAGCTCTCCAGCGCATGCTCTGCCTACGCGTAGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCAGCCTCGACACACGACCCACAGGCTCAGGGGCTGGGGACAGAGGCAAGGTAAGGGGTCCTGGTAGAGAACAGAGAGGCAGTGCAGGAATGGTTGACGCAGGGGTGATCTGAAAGTCAGTGTGAGGTTAGTGTGGACAGGTCACTTTAGGCAGCCCTGAGGAGGAGGAGGTCAGTGCCTTGGGGTGGGCAGTGTGGGGCCACCAGGAGGTCACCGTGGGTGGACACTTAATCAGTGTGGGGTGGGTCAGTGTGGACAGGACAGTCACTGAGCAGGGGGGTGGAGGCAGCTGGGCAATCAGGAACACACAGCAGGGCAGGGTAGCTAATGCGGTGTGGCTAGTAGCTGGCCAGGGTCCACTCACCAGTCCTCACAACCACAGAGGCAGGGGGCCCATCCACGCCAGCCACATGGGCCCTCACATGCACCGTATACTCAGTATCTGGCTCCAGTCCATCCAGCTCAGCCACCGTGGCCTCCCCAGAAACCAACTGGGATTTCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAGCCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGAGTCTTAGGAGAGAAGCGGAGGAATCTGAATACGGGGAGGGCTTAAGGGGAGACAGCTGAAACTGAAGAGGAAGCAGCGTCTCTGAGGGAGGAGGGAGTGGGATTCTGAAGGGGGAGGCAGGAGTTCTGGGGAGAAGCAAGGGTCTGCAAGGGAAGGCATGGGGGTCTGAAAGAGCAATGGAGGCAGAGAGCCAAGGGACGGGGGCAGGGCCTGACCCGTTCGAGCCACGATGACTGCAGCAGGGCCCTCCTCTCTGCCTCGCAGTACCGACACAGCCACCTGGTAGGTGGTTCCAGGCTGCAGCCCTGTGATGTCTGTGGCAGTAGAGTCTGGGGGCAGTGTCTGGCTGGACTCCGGACCTGAGGTCAGAGGGAAATGCTGGCATGGCTCCTGCCTGTCCCCTCTGGCACCCATACCCTCATTGGTCCCTTTGGCAGTCCCCCCACACACCCCACACTGACCACTGCCTGTGCTCCAGCTAATCCGAAATCCACTGGCTCCAGGGACGGGTCCCCAGGCCACCCTCACTCGCGTTGCATCTGACACCACAACCCGCAGCCCTGGAACAGCAAGTGGAGTTTCCGGCTCTAGGAGTTACAGACAGAAGTCAGAAGTCAGAACCAGGACCAGAGTGAGGCAGGCAGCTGTCCTCCACAAGCCTCCTGCAGTACTCACCCCGGCGGACAGTGAGGACACTGGCACTGCCCTCACGGGGACCCACTCGAGCAGACACCCGCACAGTGTAGCTAAGCCCAGCCTGAACGTCATCCAAGTCGAATGCTGTCTGACTCCCAGGAAGCACCAGGGTCCGCTCAACCCCTAAGAGAGAAGTCAGGGTAGGTGGGCAGGGGTCAGAAAGAGACAGGGATGTGGGACGATGGCAGTGATGGACAGGGACGCAGAGTGAGAAGGGCCATGGGGGTGGGGATGTGGGGTGGTGGGGACCAGAGAGCTGGGATATGGCTGAAAAAAGTGAGTGCAAGACAAGGACATAGGATGAAAGGGGCCAGTGATGGTCAGGGACACTGGAGGACAGGAGTCTGTGGGATCTTAGCATGTAGGATGACAGGAGTCAGTGGACTGCAGTGAGAACTGATGAGCCATTGACAGACACTGATGTGGGATGGCAGAGGTCAGTGCTGGATGGGGACATGCAATGAGAGGTTGGTGTACAGTGGTCACCACTAGGGTAACAGAAAGACAGGTGATTGAGCTTGTGGCTGTGCAGAGGTGAAAGCCGTGGATGGGGTGTGGGGCAGGGAGGAGATTGGTTGGGGTAGGGTAGGGGCAGACACACCCTGTTGACAGTTCAGGGCTCAGTGCCATCTTGGGAAGCAGATGGATAACGAGACAGGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTG |
Task1_train_6969 | This alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Epidermolysis bullosa dystrophica | TATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGAGTCTTAGGAGAGAAGCGGAGGAATCTGAATACGGGGAGGGCTTAAGGGGAGACAGCTGAAACTGAAGAGGAAGCAGCGTCTCTGAGGGAGGAGGGAGTGGGATTCTGAAGGGGGAGGCAGGAGTTCTGGGGAGAAGCAAGGGTCTGCAAGGGAAGGCATGGGGGTCTGAAAGAGCAATGGAGGCAGAGAGCCAAGGGACGGGGGCAGGGCCTGACCCGTTCGAGCCACGATGACTGCAGCAGGGCCCTCCTCTCTGCCTCGCAGTACCGACACAGCCACCTGGTAGGTGGTTCCAGGCTGCAGCCCTGTGATGTCTGTGGCAGTAGAGTCTGGGGGCAGTGTCTGGCTGGACTCCGGACCTGAGGTCAGAGGGAAATGCTGGCATGGCTCCTGCCTGTCCCCTCTGGCACCCATACCCTCATTGGTCCCTTTGGCAGTCCCCCCACACACCCCACACTGACCACTGCCTGTGCTCCAGCTAATCCGAAATCCACTGGCTCCAGGGACGGGTCCCCAGGCCACCCTCACTCGCGTTGCATCTGACACCACAACCCGCAGCCCTGGAACAGCAAGTGGAGTTTCCGGCTCTAGGAGTTACAGACAGAAGTCAGAAGTCAGAACCAGGACCAGAGTGAGGCAGGCAGCTGTCCTCCACAAGCCTCCTGCAGTACTCACCCCGGCGGACAGTGAGGACACTGGCACTGCCCTCACGGGGACCCACTCGAGCAGACACCCGCACAGTGTAGCTAAGCCCAGCCTGAACGTCATCCAAGTCGAATGCTGTCTGACTCCCAGGAAGCACCAGGGTCCGCTCAACCCCTAAGAGAGAAGTCAGGGTAGGTGGGCAGGGGTCAGAAAGAGACAGGGATGTGGGACGATGGCAGTGATGGACAGGGACGCAGAGTGAGAAGGGCCATGGGGGTGGGGATGTGGGGTGGTGGGGACCAGAGAGCTGGGATATGGCTGAAAAAAGTGAGTGCAAGACAAGGACATAGGATGAAAGGGGCCAGTGATGGTCAGGGACACTGGAGGACAGGAGTCTGTGGGATCTTAGCATGTAGGATGACAGGAGTCAGTGGACTGCAGTGAGAACTGATGAGCCATTGACAGACACTGATGTGGGATGGCAGAGGTCAGTGCTGGATGGGGACATGCAATGAGAGGTTGGTGTACAGTGGTCACCACTAGGGTAACAGAAAGACAGGTGATTGAGCTTGTGGCTGTGCAGAGGTGAAAGCCGTGGATGGGGTGTGGGGCAGGGAGGAGATTGGTTGGGGTAGGGTAGGGGCAGACACACCCTGTTGACAGTTCAGGGCTCAGTGCCATCTTGGGAAGCAGATGGATAACGAGACAGGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAAC | TATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGAGTCTTAGGAGAGAAGCGGAGGAATCTGAATACGGGGAGGGCTTAAGGGGAGACAGCTGAAACTGAAGAGGAAGCAGCGTCTCTGAGGGAGGAGGGAGTGGGATTCTGAAGGGGGAGGCAGGAGTTCTGGGGAGAAGCAAGGGTCTGCAAGGGAAGGCATGGGGGTCTGAAAGAGCAATGGAGGCAGAGAGCCAAGGGACGGGGGCAGGGCCTGACCCGTTCGAGCCACGATGACTGCAGCAGGGCCCTCCTCTCTGCCTCGCAGTACCGACACAGCCACCTGGTAGGTGGTTCCAGGCTGCAGCCCTGTGATGTCTGTGGCAGTAGAGTCTGGGGGCAGTGTCTGGCTGGACTCCGGACCTGAGGTCAGAGGGAAATGCTGGCATGGCTCCTGCCTGTCCCCTCTGGCACCCATACCCTCATTGGTCCCTTTGGCAGTCCCCCCACACACCCCACACTGACCACTGCCTGTGCTCCAGCTAATCCGAAATCCACTGGCTCCAGGGACGGGTCCCCAGGCCACCCTCACTCGCGTTGCATCTGACACCACAACCCGCAGCCCTGGAACAGCAAGTGGAGTTTCCGGCTCTAGGAGTTACAGACAGAAGTCAGAAGTCAGAACCAGGACCAGAGTGAGGCAGGCAGCTGTCCTCCACAAGCCTCCTGCAGTACTCACCCCGGCGGACAGTGAGGACACTGGCACTGCCCTCACGGGGACCCACTCGAGCAGACACCCGCACAGTGTAGCTAAGCCCAGCCTGAACGTCATCCAAGTCGAATGCTGTCTGACTCCCAGGAAGCACCAGGGTCCGCTCAACCCCTAAGAGAGAAGTCAGGGTAGGTGGGCAGGGGTCAGAAAGAGACAGGGATGTGGGACGATGGCAGTGATGGACAGGGACGCAGAGTGAGAAGGGCCATGGGGGTGGGGATGTGGGGTGGTGGGGACCAGAGAGCTGGGATATGGCTGAAAAAAGTGAGTGCAAGACAAGGACATAGGATGAAAGGGGCCAGTGATGGTCAGGGACACTGGAGGACAGGAGTCTGTGGGATCTTAGCATGTAGGATGACAGGAGTCAGTGGACTGCAGTGAGAACTGATGAGCCATTGACAGACACTGATGTGGGATGGCAGAGGTCAGTGCTGGATGGGGACATGCAATGAGAGGTTGGTGTACAGTGGTCACCACTAGGGTAACAGAAAGACAGGTGATTGAGCTTGTGGCTGTGCAGAGGTGAAAGCCGTGGATGGGGTGTGGGGCAGGGAGGAGATTGGTTGGGGTAGGGTAGGGGCAGACACACCCTGTTGACAGTTCAGGGCTCAGTGCCATCTTGGGAAGCAGATGGATAACGAGACAGGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACTAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAAC |
Task1_train_6970 | A mutation found in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Epidermolysis bullosa dystrophica | AAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTC | AAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCGGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTC |
Task1_train_6971 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; COL7A1-related disorder | AAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTC | AAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCTGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTC |
Task1_train_6972 | The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6973 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epidermolysis bullosa pruriginosa | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6974 | Located on Chromosome 3, this mutation impacts COL7A1 (collagen type VII alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pretibial dystrophic epidermolysis bullosa | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6975 | A variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6976 | The following genetic variant occurs in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Nonsyndromic congenital nail disorder 8 | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6977 | With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Epidermolysis bullosa pruriginosa | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6978 | This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6979 | A change on Chromosome 3 affects gene COL7A1 (collagen type VII alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6980 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Transient bullous dermolysis of the newborn | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6981 | A variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Anonychia | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6982 | A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Abnormality of the skin | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6983 | An alteration has been detected in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Nail dystrophy | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6984 | Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Skin erosion | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6985 | Chromosome 3 houses a mutation in gene COL7A1 (collagen type VII alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Epidermolysis bullosa dystrophica | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA |
Task1_train_6986 | Consider this mutation in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | GTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGAGGAGTGGACAGGTTCCTGCAGAGCCACAAGGCAGCAGCGCCGTGGGGGGTGGGGCTGCAGTTGGGGATGACTCACCCCCAATCCAGTGGGGGTGCCCAGACAAGCCCTCAGGCCATGGGTCCCGCCGGCCACTCCTGTGATTCAGCCATCTGTCTGGTGGGCCTCCTGGGCCCCACCCGGATCTCCTTGACAGGCAAGAAGCCCTGGCAAATGAGTGACTCTGGGCCGGTCTTAGGGAAACCAAGGTCCCCTTGGCCTGGATCCAAGTAACTCACCCCCTCTTTGTAGGGGATAAGCCGGAAGGAGGAGAGAACCTGTGTCATGCTTATGCATACATCCCAGTGTCCCACATCCCCTACCATGTCACAGGCAGATGCAATCCAGCTGTGCCTGCAGGGAGGGGGCCGCCCATCTGTGGAGGGCGGGACCACCCACAGTGACAGCTCATCTCTCAGGAATCGAGCCCTCCATGCCCCAGGCCAGGTCCCCCTACCTACATGTCCTCACCCACAGGCATCCTCTCCTTCCATCTACTTTTCTTGTAGGTCCCTGCCACCCATCTCCCCTACCAGGCCGAGGTCCCCTTGGGCCCCTTCCTCCTTTCCTCACTGCCCTCATGGTACCTGTAGCTTCCAGCTTCATAACTGCCCCCTACCTTACTCCTGTCCCCTTACCCAGGCTGACTTCACACCCTCCCCCAGCTTCGCTTCTGAGGCTGTGGACAGTCCTCCAACACACACCACGCCAGGGCCACTGTCCGAAGGAGGTGGGGCTCTGTATATGCATATCTCTCCATTAGATGGGTGACACTAAGGCAGAGAGGCACTGCTAAGAAGGGCAGGCCCCCATCTGGGTCCTGCTCCCCCTTTTTTTCCTGCTAATCCTGAATAACTCTGGGCAGCCCAGAAAGCACATCTATACTCACCAAGGCTGCTGGGCCCCTTCTAATATGCCCGGCCCCACAGCCTCCCCTGGGATCCACAGGGAGATATGGGGACAGCACTGGCTGGACTCCTCCACAGCCCGAGGACTCTGGTGTGGCCAGAGCTGGAGGCAGTGAAGACCATCCATGCTGCCTGCTTTCCTATTGCCCAAGGAAGGCTGGGGCTCTATCCCTTATTACTGACCCCCCAAACTATCCTGGGGCATAGTGCTATGACCTTATTCCAAGGTCAGGGTCTCCTCAGCCATGTCCCAGGACCCCCCATCCCTGCAAGGTGTGCTCCAGGTGGGGGGCTGCAGAGAACCAGGTATGTTATCACACAGGCAGCCCCTTCCCCCTAAGACTGTCACCTCCTCCCGTGCAGCCAGGGCGGGCAAGAGCAGGCCAGTGGCATGGACAGTACGGTACAGACATATGTGCACACGTGGGCCAGTCTTAGGGGAGACAGGAGGCCCAGCTGGGAGGGTGGGTGCTCAGGCAAACCTCATCAGAATTGAGGTGCCTCCAAAAGAAAGGACAGGCTGCTGTGAGAGGGTCTCTCAAAGGGTGCTGGGAGAGGCTGTTGAGAAGGTAGGAGTAAGGTTGGAATGACTCCACGTCTGGAGCTTCTATGAGACTCACGAGCAGGAGTGTGGCCCTCTGAAGCCCCAGCTCTGGCCTCCTGGGAGGAACACAGC | GTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCCTCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGAGGAGTGGACAGGTTCCTGCAGAGCCACAAGGCAGCAGCGCCGTGGGGGGTGGGGCTGCAGTTGGGGATGACTCACCCCCAATCCAGTGGGGGTGCCCAGACAAGCCCTCAGGCCATGGGTCCCGCCGGCCACTCCTGTGATTCAGCCATCTGTCTGGTGGGCCTCCTGGGCCCCACCCGGATCTCCTTGACAGGCAAGAAGCCCTGGCAAATGAGTGACTCTGGGCCGGTCTTAGGGAAACCAAGGTCCCCTTGGCCTGGATCCAAGTAACTCACCCCCTCTTTGTAGGGGATAAGCCGGAAGGAGGAGAGAACCTGTGTCATGCTTATGCATACATCCCAGTGTCCCACATCCCCTACCATGTCACAGGCAGATGCAATCCAGCTGTGCCTGCAGGGAGGGGGCCGCCCATCTGTGGAGGGCGGGACCACCCACAGTGACAGCTCATCTCTCAGGAATCGAGCCCTCCATGCCCCAGGCCAGGTCCCCCTACCTACATGTCCTCACCCACAGGCATCCTCTCCTTCCATCTACTTTTCTTGTAGGTCCCTGCCACCCATCTCCCCTACCAGGCCGAGGTCCCCTTGGGCCCCTTCCTCCTTTCCTCACTGCCCTCATGGTACCTGTAGCTTCCAGCTTCATAACTGCCCCCTACCTTACTCCTGTCCCCTTACCCAGGCTGACTTCACACCCTCCCCCAGCTTCGCTTCTGAGGCTGTGGACAGTCCTCCAACACACACCACGCCAGGGCCACTGTCCGAAGGAGGTGGGGCTCTGTATATGCATATCTCTCCATTAGATGGGTGACACTAAGGCAGAGAGGCACTGCTAAGAAGGGCAGGCCCCCATCTGGGTCCTGCTCCCCCTTTTTTTCCTGCTAATCCTGAATAACTCTGGGCAGCCCAGAAAGCACATCTATACTCACCAAGGCTGCTGGGCCCCTTCTAATATGCCCGGCCCCACAGCCTCCCCTGGGATCCACAGGGAGATATGGGGACAGCACTGGCTGGACTCCTCCACAGCCCGAGGACTCTGGTGTGGCCAGAGCTGGAGGCAGTGAAGACCATCCATGCTGCCTGCTTTCCTATTGCCCAAGGAAGGCTGGGGCTCTATCCCTTATTACTGACCCCCCAAACTATCCTGGGGCATAGTGCTATGACCTTATTCCAAGGTCAGGGTCTCCTCAGCCATGTCCCAGGACCCCCCATCCCTGCAAGGTGTGCTCCAGGTGGGGGGCTGCAGAGAACCAGGTATGTTATCACACAGGCAGCCCCTTCCCCCTAAGACTGTCACCTCCTCCCGTGCAGCCAGGGCGGGCAAGAGCAGGCCAGTGGCATGGACAGTACGGTACAGACATATGTGCACACGTGGGCCAGTCTTAGGGGAGACAGGAGGCCCAGCTGGGAGGGTGGGTGCTCAGGCAAACCTCATCAGAATTGAGGTGCCTCCAAAAGAAAGGACAGGCTGCTGTGAGAGGGTCTCTCAAAGGGTGCTGGGAGAGGCTGTTGAGAAGGTAGGAGTAAGGTTGGAATGACTCCACGTCTGGAGCTTCTATGAGACTCACGAGCAGGAGTGTGGCCCTCTGAAGCCCCAGCTCTGGCCTCCTGGGAGGAACACAGC |
Task1_train_6987 | A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGAGGAGTGGACAGGTTCCTGCAGAGCCACAAGGCAGCAGCGCCGTGGGGGGTGGGGCTGCAGTTGGGGATGACTCACCCCCAATCCAGTGGGGGTGCCCAGACAAGCCCTCAGGCCATGGGTCCCGCCGGCCACTCCTGTGATTCAGCCATCTGTCTGGTGGGCCTCCTGGGCCCCACCCGGATCTCCTTGACAGGCAAGAAGCCCTGGCAAATGAGTGACTCTGGGCCGGTCTTAGGGAAACCAAGGTCCCCTTGGCCTGGATCCAAGTAACTCACCCCCTCTTTGTAGGGGATAAGCCGGAAGGAGGAGAGAACCTGTGTCATGCTTATGCATACATCCCAGTGTCCCACATCCCCTACCATGTCACAGGCAGATGCAATCCAGCTGTGCCTGCAGGGAGGGGGCCGCCCATCTGTGGAGGGCGGGACCACCCACAGTGACAGCTCATCTCTCAGGAATCGAGCCCTCCATGCCCCAGGCCAGGTCCCCCTACCTACATGTCCTCACCCACAGGCATCCTCTCCTTCCATCTACTTTTCTTGTAGGTCCCTGCCACCCATCTCCCCTACCAGGCCGAGGTCCCCTTGGGCCCCTTCCTCCTTTCCTCACTGCCCTCATGGTACCTGTAGCTTCCAGCTTCATAACTGCCCCCTACCTTACTCCTGTCCCCTTACCCAGGCTGACTTCACACCCTCCCCCAGCTTCGCTTCTGAGGCTGTGGACAGTCCTCCAACACACACCACGCCAGGGCCACTGTCCGAAGGAGGTGGGGCTCTGTATATGCATATCTCTCCATTAGATGGGTGACACTAAGGCAGAGAGGCACTGCTAAGAAGGGCAGGCCCCCATCTGGGTCCTGCTCCCCCTTTTTTTCCTGCTAATCCTGAATAACTCTGGGCAGCCCAGAAAGCACATCTATACTCACCAAGGCTGCTGGGCCCCTTCTAATATGCCCGGCCCCACAGCCTCCCCTGGGATCCACAGGGAGATATGGGGACAGCACTGGCTGGACTCCTCCACAGCCCGAGGACTCTGGTGTGGCCAGAGCTGGAGGCAGTGAAGACCATCCATGCTGCCTGCTTTCCTATTGCCCAAGGAAGGCTGGGGCTCTATCCCTTATTACTGACCCCCCAAACTATCCTGGGGCATAGTGCTATGACCTTATTCCAAGGTCAGGGTCTCCTCAGCCATGTCCCAGGACCCCCCATCCCTGCAAGGTGTGCTCCAGGTGGGGGGCTGCAGAGAACCAGGTATGTTATCACACAGGCAGCCCCTTCCCCCTAAGACTGTCACCTCCTCCCGTGCAGCCAGGGCGGGCAAGAGCAGGCCAGTGGCATGGACAGTACGGTACAGACATATGTGCACACGTGGGCCAGTCTTAGGGGAGACAGGAGGCCCAGCTGGGAGGGTGGGTGCTCAGGCAAACCTCATCAGAATTGAGGTGCCTCCAAAAGAAAGGACAGGCTGCTGTGAGAGGGTCTCTCAAAGGGTGCTGGGAGAGGCTGTTGAGAAGGTAGGAGTAAGGTTGGAATGACTCCACGTCTGGAGCTTCTATGAGACTCACGAGCAGGAGTGTGGCCCTCTGAAGCCCCAGCTCTGGCCTCCTGGGAGGAACACAGCC | TCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCACCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGAGGAGTGGACAGGTTCCTGCAGAGCCACAAGGCAGCAGCGCCGTGGGGGGTGGGGCTGCAGTTGGGGATGACTCACCCCCAATCCAGTGGGGGTGCCCAGACAAGCCCTCAGGCCATGGGTCCCGCCGGCCACTCCTGTGATTCAGCCATCTGTCTGGTGGGCCTCCTGGGCCCCACCCGGATCTCCTTGACAGGCAAGAAGCCCTGGCAAATGAGTGACTCTGGGCCGGTCTTAGGGAAACCAAGGTCCCCTTGGCCTGGATCCAAGTAACTCACCCCCTCTTTGTAGGGGATAAGCCGGAAGGAGGAGAGAACCTGTGTCATGCTTATGCATACATCCCAGTGTCCCACATCCCCTACCATGTCACAGGCAGATGCAATCCAGCTGTGCCTGCAGGGAGGGGGCCGCCCATCTGTGGAGGGCGGGACCACCCACAGTGACAGCTCATCTCTCAGGAATCGAGCCCTCCATGCCCCAGGCCAGGTCCCCCTACCTACATGTCCTCACCCACAGGCATCCTCTCCTTCCATCTACTTTTCTTGTAGGTCCCTGCCACCCATCTCCCCTACCAGGCCGAGGTCCCCTTGGGCCCCTTCCTCCTTTCCTCACTGCCCTCATGGTACCTGTAGCTTCCAGCTTCATAACTGCCCCCTACCTTACTCCTGTCCCCTTACCCAGGCTGACTTCACACCCTCCCCCAGCTTCGCTTCTGAGGCTGTGGACAGTCCTCCAACACACACCACGCCAGGGCCACTGTCCGAAGGAGGTGGGGCTCTGTATATGCATATCTCTCCATTAGATGGGTGACACTAAGGCAGAGAGGCACTGCTAAGAAGGGCAGGCCCCCATCTGGGTCCTGCTCCCCCTTTTTTTCCTGCTAATCCTGAATAACTCTGGGCAGCCCAGAAAGCACATCTATACTCACCAAGGCTGCTGGGCCCCTTCTAATATGCCCGGCCCCACAGCCTCCCCTGGGATCCACAGGGAGATATGGGGACAGCACTGGCTGGACTCCTCCACAGCCCGAGGACTCTGGTGTGGCCAGAGCTGGAGGCAGTGAAGACCATCCATGCTGCCTGCTTTCCTATTGCCCAAGGAAGGCTGGGGCTCTATCCCTTATTACTGACCCCCCAAACTATCCTGGGGCATAGTGCTATGACCTTATTCCAAGGTCAGGGTCTCCTCAGCCATGTCCCAGGACCCCCCATCCCTGCAAGGTGTGCTCCAGGTGGGGGGCTGCAGAGAACCAGGTATGTTATCACACAGGCAGCCCCTTCCCCCTAAGACTGTCACCTCCTCCCGTGCAGCCAGGGCGGGCAAGAGCAGGCCAGTGGCATGGACAGTACGGTACAGACATATGTGCACACGTGGGCCAGTCTTAGGGGAGACAGGAGGCCCAGCTGGGAGGGTGGGTGCTCAGGCAAACCTCATCAGAATTGAGGTGCCTCCAAAAGAAAGGACAGGCTGCTGTGAGAGGGTCTCTCAAAGGGTGCTGGGAGAGGCTGTTGAGAAGGTAGGAGTAAGGTTGGAATGACTCCACGTCTGGAGCTTCTATGAGACTCACGAGCAGGAGTGTGGCCCTCTGAAGCCCCAGCTCTGGCCTCCTGGGAGGAACACAGCC |
Task1_train_6988 | This is a variant in UQCRC1 (ubiquinol-cytochrome c reductase core protein 1), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Parkinsonism with polyneuropathy | ATCTACTGCCCCATGGACTCCATGCCAATGCCAAAAGAGGGATGACACACTTCTCAGCAGAGGATTTTATTGGTGGTCACCTGTGGCACAGGTTAGAGGAGCCGAAGTGCTGTGTTTGTGGTGGGGGGGGGACCACAAACCCCGGCCCTGCCCTCTTGCTTACATAGGCTTCCCGCCTAGAAGCGCAGCCAGAACATGCCGCTACGGATCCGGTTGTAGTCTGGGAGCTGCTCAATGGGGCCTGTGGGGATAGGGTGGAGCGTCAGGGTGGGGTACCTGGCCTGCACAGGGACACCTGGCCCTGTGCCGCACCCAGCTCGGAGATGCTGCCCAGAGCAGCACAAGACAGGCTTTGAGTGGAAAGAGAGGAGAGAACATTCCCCCAGGGGTGCTGAGCCTGTCCCTTCATGTTCTGGCCCTTGAAGCCCCACCCCACATGGAGGTGCCCGTTACCTGACGGGTGCAGGGTATTGATGAAGGCACCTTGGCAGGCAGTCAAGGAACTGCTGGGACAGGTTTTCTGAGCAAGAACTCCCTGGCAGCCAGGGGACTGGGGAGAGCTGCTTGGGGCCTTAACTGGCTGCTCTGTAAGCTGAGCAGCAGTGCGGGAGCAGAGGTGGAAGGGGAGGCCAAGAGAACGGCCTGAGGAAATAAACAAAGAGCAGACCCCCTAGGCCACTTACCATATCCAGCCACTGCTGGGCACTGGTCATAGATGTACTTGGAGCAGATCTCACGTACCACACTGGCATCCACCTCCTGCAGGGTGAGGCAGAGGGCATACTGGCTAACGGGCACCTGGCCACCACCTCAGCCAGTCAGCATCATCCAACTAGCAGAGATCTCCCACAGGCAGCATGCAGCTGTCCCCAGCCCAAAAGAGGAAAGGCAGAAGGGATCCCTGCTATAGACCTCCATGGGCCCCGCCCATCTCCACAGCCATCAGCACCTATGCCCTGCCCTCCCACTATGCTACCCCTGCAGGTGACAGCTGCCTAGGACACCAGGGATGCCTATAGGAGCAGGCTGCGCTATGCCAGGCCCCAACCCTACACCTCCCAGGTGTCTGCCAGGCCAAGACTCCAGAACCTCTCCCAGGGGTCCATGTTACCGCAATCCGGCTTTCCCATTCAGCCAGGGGGATGCGGCGGCCATAGGTCAGGAGGCTGCGTCCGATGTCCTCACACACAGGAGTAGTGCCTTTAAGGGTGAGAGAAGGCTCAGAGGTCCACCCAGCCCAATCCTGGACCCACAGGTACACAAACAATCTCCAGCCTCAGGTTGACAAGGACCTCCCTGACCTCATGCTGACTCAGATCACAGCCCTCTCTTCTATGGTCACCTATTATGGCAGTGATGGGCTGTGGACCTGTCTCACACCTGCCTGCATCTCCAAGGGTGGGGTGATGGGGCATGGCGTGGTCTTCAAAGTTTTCCTTTCTAACCTTGGTTAGTTAGGAGCAGTGGCCACCTTGGTGCTGTCGCTGGCAAGATGTACTCTACCCCTCCCCGCTGAGCTGTAGGACTCACCATCTAGATGAGATACCAGGGCATTTCTGAGGATGTTTTTGCCCCGGGCCACCTCACTCTCCGTGGCACTGGTACACAGGCGCATCCTAAAGTGGGGGGGTGGGTGGTATTCATTCTGAGCCAGTGTGTCATCTCTCAGCCTCCCACTGTGCTGGTTAAAGCCGCCATCCCACCTAGGAATACCAGGCTGCCACTTACCACTGCCCTTGCAGGACGAACATCATGTCATCGATTTTCATTCGGTCACAGACAAAGTGTGCACCCAGCAAGCCCGTCTCTGCATAGCAGATGCTGAAGGTCTGGAAACTCTGGCATAGCTTGTTGGCCACAGCACCTGAAGCCAGTGGGCTGGACAGGTGCTGCCAGGGGGATAGGTGGTCAGCACCCACCCTCTTGTCTTCAACGCACACTGTGACCCCCACGCACAGGAGCACACAGCCCCAGCACCCTCTCTTCCCTGAAGGCGAGGTCCCATGCTCGCGCTGGCACTCACCACGCCACCACCATAAGTGCAGTCATAGTGGCCGATGATGGCATTGGCCACTTGCAAGGCCACATTGTCCGGGCTGGCCCAGCCAGGACCCTCTACTGCAATGGCCACGTGGGCAAAAGGTAGAGCATCATCACGGTGGCGGATCTGAAACAGTACATGACAAGGCTGAGGAACAGCCAGACTGCCAGGGGAACAGAAAAGGTGGCAGGTGTGGGTAGAGGGTGTATGTGTGTGAACATGTGTGCCTGTGATGCAGCAGCCACAGAACCCCTTCCCAACTGCTGAGGTATCTCTGGAGTCACCAGGATAACCATGCACATGGGGGTCCTCCCACAGGCCCCCAGCTGAGCACTACTCCTGCCCAAAAGGCAGCATACCTCACTGCCAGTGAAGCGGCATGGAGTAAGAGTGGGCACAGCGTCCTCTGCATATGTCCATGGGATGCCACCGAGGTGCTTCTGGGCGAGGTCTAACAGTTGCTGGTGCTCCACTCCTGCTGAGACAGACAGTGGCATTACTGACCAGCCAGGGCCCAAGGCACAGGGTGGGGCGATTCACAGACAGGCAGAGGACCCCCATGTCCTGTCTTAGTGGGAGAAACCAGGAGTATGTGACATTAGAACAGGGTGAGGAAAGAAGGTCCTCCTCAGACAGACCCTGCCTTGTGGACAGGACAGGCACCTCAGGGCCAAATAGCTCCCATGGCCTCAGTCCCAGGAGAGCAAAAGCGTTCAGAGTTTCAAAATGGGCTGCCATGTGATCCAAGTGTGGGTTCTCACTTGAGAAGATGCATTCCACCTACATCAAGGACAAGACTGGTACTCCTGGGCACAAAGCCACCTGGCCTGCCTTTTCCCTCTAGCTCTCCCTCAAGTATTTCTGGCTGCTGGCCCTGCAGGGGGTGGCAAGTGAGGGGGCAGAAAGAGGAGCTATTACAGGGCTGTGATTAGCTCTTGGGTCCCCTGAGAGCTGGGGACATTTGCAAATAATGTTACAAACGTATACCCTAGGACTCCTTGGATCTTGCCTCCTCACCTCCACAAGAGGAGGGCTCTGTGGTGCCACCAGTTGCATTGGCCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGCACAGTGGTGCAATCTCAGCTAACTGCAAGCTCCACCTCCCGGGTCCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAGCTCCTGATCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCGTTGGCCTTTCATTCCTTCCTTCCATGAGCTCAAGCCCTGCTAGTCTGACACACACGTCAGATTGCTCTTGCCCCCAGGTTCCCCAGCTCCAAAGCCCCTGGTCATGCTCTTCCTATTGGTCTTTTCTGCACACTCAGCCGCCAAGGTCATAAGCTGGGAAGCATGTTTGTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTTGTGCAGGCCGGAGTGCAGTGGTACAATCTCAGCTCGCTGCAACCTCCGTCCCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTATAGGCAACTGCCACCAAGCCTGGCTAATTTTTGTATTTTTACCAGAGACGGGGTTTTGTCACGTTGGCTGGGCTGGTCTCGAACTCCTTACCTCAGGTGATTCACCCACCTCGGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGACCAGCCAAGATGGGAAGCACCTTGACCTCAGTTCCTTACCCATGTCCAGACCCCAACCAGGTTCCATCTATAAAACCACCTGGAGTCCATCTACTGCTCCCCCTTGCTCCTGCCATCTCCTGCCCAGTCCCTGCCACAGCCCCTCTCTAGCCAGCCTACCTGCACTGTGACCCCACACAGCAGCAGAGCAAACCTTAGACCATGACACTGCTCTTCCCCTGCGCTCAGCTC | ATCTACTGCCCCATGGACTCCATGCCAATGCCAAAAGAGGGATGACACACTTCTCAGCAGAGGATTTTATTGGTGGTCACCTGTGGCACAGGTTAGAGGAGCCGAAGTGCTGTGTTTGTGGTGGGGGGGGGACCACAAACCCCGGCCCTGCCCTCTTGCTTACATAGGCTTCCCGCCTAGAAGCGCAGCCAGAACATGCCGCTACGGATCCGGTTGTAGTCTGGGAGCTGCTCAATGGGGCCTGTGGGGATAGGGTGGAGCGTCAGGGTGGGGTACCTGGCCTGCACAGGGACACCTGGCCCTGTGCCGCACCCAGCTCGGAGATGCTGCCCAGAGCAGCACAAGACAGGCTTTGAGTGGAAAGAGAGGAGAGAACATTCCCCCAGGGGTGCTGAGCCTGTCCCTTCATGTTCTGGCCCTTGAAGCCCCACCCCACATGGAGGTGCCCGTTACCTGACGGGTGCAGGGTATTGATGAAGGCACCTTGGCAGGCAGTCAAGGAACTGCTGGGACAGGTTTTCTGAGCAAGAACTCCCTGGCAGCCAGGGGACTGGGGAGAGCTGCTTGGGGCCTTAACTGGCTGCTCTGTAAGCTGAGCAGCAGTGCGGGAGCAGAGGTGGAAGGGGAGGCCAAGAGAACGGCCTGAGGAAATAAACAAAGAGCAGACCCCCTAGGCCACTTACCATATCCAGCCACTGCTGGGCACTGGTCATAGATGTACTTGGAGCAGATCTCACGTACCACACTGGCATCCACCTCCTGCAGGGTGAGGCAGAGGGCATACTGGCTAACGGGCACCTGGCCACCACCTCAGCCAGTCAGCATCATCCAACTAGCAGAGATCTCCCACAGGCAGCATGCAGCTGTCCCCAGCCCAAAAGAGGAAAGGCAGAAGGGATCCCTGCTATAGACCTCCATGGGCCCCGCCCATCTCCACAGCCATCAGCACCTATGCCCTGCCCTCCCACTATGCTACCCCTGCAGGTGACAGCTGCCTAGGACACCAGGGATGCCTATAGGAGCAGGCTGCGCTATGCCAGGCCCCAACCCTACACCTCCCAGGTGTCTGCCAGGCCAAGACTCCAGAACCTCTCCCAGGGGTCCATGTTACCGCAATCCGGCTTTCCCATTCAGCCAGGGGGATGCGGCGGCCATAGGTCAGGAGGCTGCGTCCGATGTCCTCACACACAGGAGTAGTGCCTTTAAGGGTGAGAGAAGGCTCAGAGGTCCACCCAGCCCAATCCTGGACCCACAGGTACACAAACAATCTCCAGCCTCAGGTTGACAAGGACCTCCCTGACCTCATGCTGACTCAGATCACAGCCCTCTCTTCTATGGTCACCTATTATGGCAGTGATGGGCTGTGGACCTGTCTCACACCTGCCTGCATCTCCAAGGGTGGGGTGATGGGGCATGGCGTGGTCTTCAAAGTTTTCCTTTCTAACCTTGGTTAGTTAGGAGCAGTGGCCACCTTGGTGCTGTCGCTGGCAAGATGTACTCTACCCCTCCCCGCTGAGCTGTAGGACTCACCATCTAGATGAGATACCAGGGCATTTCTGAGGATGTTTTTGCCCCGGGCCACCTCACTCTCCGTGGCACTGGTACACAGGCGCATCCTAAAGTGGGGGGGTGGGTGGTATTCATTCTGAGCCAGTGTGTCATCTCTCAGCCTCCCACTGTGCTGGTTAAAGCCGCCATCCCACCTAGGAATACCAGGCTGCCACTTACCACTGCCCTTGCAGGACGAACATCATGTCATCGATTTTCATTCGGTCACAGACAAAGTGTGCACCCAGCAAGCCCGTCTCTGCATAGCAGATGCTGAAGGTCTGGAAACTCTGGCATAGCTTGTTGGCCACAGCACCTGAAGCCAGTGGGCTGGACAGGTGCTGCCAGGGGGATAGGTGGTCAGCACCCACCCTCTTGTCTTCAACGCACACTGTGACCCCCACGCACAGGAGCACACAGCCCCAGCACCCTCTCTTCCCTGAAGGCGAGGTCCCATGCTCGCGCTGGCACTCACCACGCCACCACCATAAGTGCAGTCAGAGTGGCCGATGATGGCATTGGCCACTTGCAAGGCCACATTGTCCGGGCTGGCCCAGCCAGGACCCTCTACTGCAATGGCCACGTGGGCAAAAGGTAGAGCATCATCACGGTGGCGGATCTGAAACAGTACATGACAAGGCTGAGGAACAGCCAGACTGCCAGGGGAACAGAAAAGGTGGCAGGTGTGGGTAGAGGGTGTATGTGTGTGAACATGTGTGCCTGTGATGCAGCAGCCACAGAACCCCTTCCCAACTGCTGAGGTATCTCTGGAGTCACCAGGATAACCATGCACATGGGGGTCCTCCCACAGGCCCCCAGCTGAGCACTACTCCTGCCCAAAAGGCAGCATACCTCACTGCCAGTGAAGCGGCATGGAGTAAGAGTGGGCACAGCGTCCTCTGCATATGTCCATGGGATGCCACCGAGGTGCTTCTGGGCGAGGTCTAACAGTTGCTGGTGCTCCACTCCTGCTGAGACAGACAGTGGCATTACTGACCAGCCAGGGCCCAAGGCACAGGGTGGGGCGATTCACAGACAGGCAGAGGACCCCCATGTCCTGTCTTAGTGGGAGAAACCAGGAGTATGTGACATTAGAACAGGGTGAGGAAAGAAGGTCCTCCTCAGACAGACCCTGCCTTGTGGACAGGACAGGCACCTCAGGGCCAAATAGCTCCCATGGCCTCAGTCCCAGGAGAGCAAAAGCGTTCAGAGTTTCAAAATGGGCTGCCATGTGATCCAAGTGTGGGTTCTCACTTGAGAAGATGCATTCCACCTACATCAAGGACAAGACTGGTACTCCTGGGCACAAAGCCACCTGGCCTGCCTTTTCCCTCTAGCTCTCCCTCAAGTATTTCTGGCTGCTGGCCCTGCAGGGGGTGGCAAGTGAGGGGGCAGAAAGAGGAGCTATTACAGGGCTGTGATTAGCTCTTGGGTCCCCTGAGAGCTGGGGACATTTGCAAATAATGTTACAAACGTATACCCTAGGACTCCTTGGATCTTGCCTCCTCACCTCCACAAGAGGAGGGCTCTGTGGTGCCACCAGTTGCATTGGCCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGCACAGTGGTGCAATCTCAGCTAACTGCAAGCTCCACCTCCCGGGTCCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAGCTCCTGATCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCGTTGGCCTTTCATTCCTTCCTTCCATGAGCTCAAGCCCTGCTAGTCTGACACACACGTCAGATTGCTCTTGCCCCCAGGTTCCCCAGCTCCAAAGCCCCTGGTCATGCTCTTCCTATTGGTCTTTTCTGCACACTCAGCCGCCAAGGTCATAAGCTGGGAAGCATGTTTGTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTTGTGCAGGCCGGAGTGCAGTGGTACAATCTCAGCTCGCTGCAACCTCCGTCCCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTATAGGCAACTGCCACCAAGCCTGGCTAATTTTTGTATTTTTACCAGAGACGGGGTTTTGTCACGTTGGCTGGGCTGGTCTCGAACTCCTTACCTCAGGTGATTCACCCACCTCGGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGACCAGCCAAGATGGGAAGCACCTTGACCTCAGTTCCTTACCCATGTCCAGACCCCAACCAGGTTCCATCTATAAAACCACCTGGAGTCCATCTACTGCTCCCCCTTGCTCCTGCCATCTCCTGCCCAGTCCCTGCCACAGCCCCTCTCTAGCCAGCCTACCTGCACTGTGACCCCACACAGCAGCAGAGCAAACCTTAGACCATGACACTGCTCTTCCCCTGCGCTCAGCTC |
Task1_train_6989 | Given a variant located on Chromosome 3 and affecting UQCRC1 (ubiquinol-cytochrome c reductase core protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Parkinsonism with polyneuropathy | CCATGGACTCCATGCCAATGCCAAAAGAGGGATGACACACTTCTCAGCAGAGGATTTTATTGGTGGTCACCTGTGGCACAGGTTAGAGGAGCCGAAGTGCTGTGTTTGTGGTGGGGGGGGGACCACAAACCCCGGCCCTGCCCTCTTGCTTACATAGGCTTCCCGCCTAGAAGCGCAGCCAGAACATGCCGCTACGGATCCGGTTGTAGTCTGGGAGCTGCTCAATGGGGCCTGTGGGGATAGGGTGGAGCGTCAGGGTGGGGTACCTGGCCTGCACAGGGACACCTGGCCCTGTGCCGCACCCAGCTCGGAGATGCTGCCCAGAGCAGCACAAGACAGGCTTTGAGTGGAAAGAGAGGAGAGAACATTCCCCCAGGGGTGCTGAGCCTGTCCCTTCATGTTCTGGCCCTTGAAGCCCCACCCCACATGGAGGTGCCCGTTACCTGACGGGTGCAGGGTATTGATGAAGGCACCTTGGCAGGCAGTCAAGGAACTGCTGGGACAGGTTTTCTGAGCAAGAACTCCCTGGCAGCCAGGGGACTGGGGAGAGCTGCTTGGGGCCTTAACTGGCTGCTCTGTAAGCTGAGCAGCAGTGCGGGAGCAGAGGTGGAAGGGGAGGCCAAGAGAACGGCCTGAGGAAATAAACAAAGAGCAGACCCCCTAGGCCACTTACCATATCCAGCCACTGCTGGGCACTGGTCATAGATGTACTTGGAGCAGATCTCACGTACCACACTGGCATCCACCTCCTGCAGGGTGAGGCAGAGGGCATACTGGCTAACGGGCACCTGGCCACCACCTCAGCCAGTCAGCATCATCCAACTAGCAGAGATCTCCCACAGGCAGCATGCAGCTGTCCCCAGCCCAAAAGAGGAAAGGCAGAAGGGATCCCTGCTATAGACCTCCATGGGCCCCGCCCATCTCCACAGCCATCAGCACCTATGCCCTGCCCTCCCACTATGCTACCCCTGCAGGTGACAGCTGCCTAGGACACCAGGGATGCCTATAGGAGCAGGCTGCGCTATGCCAGGCCCCAACCCTACACCTCCCAGGTGTCTGCCAGGCCAAGACTCCAGAACCTCTCCCAGGGGTCCATGTTACCGCAATCCGGCTTTCCCATTCAGCCAGGGGGATGCGGCGGCCATAGGTCAGGAGGCTGCGTCCGATGTCCTCACACACAGGAGTAGTGCCTTTAAGGGTGAGAGAAGGCTCAGAGGTCCACCCAGCCCAATCCTGGACCCACAGGTACACAAACAATCTCCAGCCTCAGGTTGACAAGGACCTCCCTGACCTCATGCTGACTCAGATCACAGCCCTCTCTTCTATGGTCACCTATTATGGCAGTGATGGGCTGTGGACCTGTCTCACACCTGCCTGCATCTCCAAGGGTGGGGTGATGGGGCATGGCGTGGTCTTCAAAGTTTTCCTTTCTAACCTTGGTTAGTTAGGAGCAGTGGCCACCTTGGTGCTGTCGCTGGCAAGATGTACTCTACCCCTCCCCGCTGAGCTGTAGGACTCACCATCTAGATGAGATACCAGGGCATTTCTGAGGATGTTTTTGCCCCGGGCCACCTCACTCTCCGTGGCACTGGTACACAGGCGCATCCTAAAGTGGGGGGGTGGGTGGTATTCATTCTGAGCCAGTGTGTCATCTCTCAGCCTCCCACTGTGCTGGTTAAAGCCGCCATCCCACCTAGGAATACCAGGCTGCCACTTACCACTGCCCTTGCAGGACGAACATCATGTCATCGATTTTCATTCGGTCACAGACAAAGTGTGCACCCAGCAAGCCCGTCTCTGCATAGCAGATGCTGAAGGTCTGGAAACTCTGGCATAGCTTGTTGGCCACAGCACCTGAAGCCAGTGGGCTGGACAGGTGCTGCCAGGGGGATAGGTGGTCAGCACCCACCCTCTTGTCTTCAACGCACACTGTGACCCCCACGCACAGGAGCACACAGCCCCAGCACCCTCTCTTCCCTGAAGGCGAGGTCCCATGCTCGCGCTGGCACTCACCACGCCACCACCATAAGTGCAGTCATAGTGGCCGATGATGGCATTGGCCACTTGCAAGGCCACATTGTCCGGGCTGGCCCAGCCAGGACCCTCTACTGCAATGGCCACGTGGGCAAAAGGTAGAGCATCATCACGGTGGCGGATCTGAAACAGTACATGACAAGGCTGAGGAACAGCCAGACTGCCAGGGGAACAGAAAAGGTGGCAGGTGTGGGTAGAGGGTGTATGTGTGTGAACATGTGTGCCTGTGATGCAGCAGCCACAGAACCCCTTCCCAACTGCTGAGGTATCTCTGGAGTCACCAGGATAACCATGCACATGGGGGTCCTCCCACAGGCCCCCAGCTGAGCACTACTCCTGCCCAAAAGGCAGCATACCTCACTGCCAGTGAAGCGGCATGGAGTAAGAGTGGGCACAGCGTCCTCTGCATATGTCCATGGGATGCCACCGAGGTGCTTCTGGGCGAGGTCTAACAGTTGCTGGTGCTCCACTCCTGCTGAGACAGACAGTGGCATTACTGACCAGCCAGGGCCCAAGGCACAGGGTGGGGCGATTCACAGACAGGCAGAGGACCCCCATGTCCTGTCTTAGTGGGAGAAACCAGGAGTATGTGACATTAGAACAGGGTGAGGAAAGAAGGTCCTCCTCAGACAGACCCTGCCTTGTGGACAGGACAGGCACCTCAGGGCCAAATAGCTCCCATGGCCTCAGTCCCAGGAGAGCAAAAGCGTTCAGAGTTTCAAAATGGGCTGCCATGTGATCCAAGTGTGGGTTCTCACTTGAGAAGATGCATTCCACCTACATCAAGGACAAGACTGGTACTCCTGGGCACAAAGCCACCTGGCCTGCCTTTTCCCTCTAGCTCTCCCTCAAGTATTTCTGGCTGCTGGCCCTGCAGGGGGTGGCAAGTGAGGGGGCAGAAAGAGGAGCTATTACAGGGCTGTGATTAGCTCTTGGGTCCCCTGAGAGCTGGGGACATTTGCAAATAATGTTACAAACGTATACCCTAGGACTCCTTGGATCTTGCCTCCTCACCTCCACAAGAGGAGGGCTCTGTGGTGCCACCAGTTGCATTGGCCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGCACAGTGGTGCAATCTCAGCTAACTGCAAGCTCCACCTCCCGGGTCCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAGCTCCTGATCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCGTTGGCCTTTCATTCCTTCCTTCCATGAGCTCAAGCCCTGCTAGTCTGACACACACGTCAGATTGCTCTTGCCCCCAGGTTCCCCAGCTCCAAAGCCCCTGGTCATGCTCTTCCTATTGGTCTTTTCTGCACACTCAGCCGCCAAGGTCATAAGCTGGGAAGCATGTTTGTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTTGTGCAGGCCGGAGTGCAGTGGTACAATCTCAGCTCGCTGCAACCTCCGTCCCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTATAGGCAACTGCCACCAAGCCTGGCTAATTTTTGTATTTTTACCAGAGACGGGGTTTTGTCACGTTGGCTGGGCTGGTCTCGAACTCCTTACCTCAGGTGATTCACCCACCTCGGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGACCAGCCAAGATGGGAAGCACCTTGACCTCAGTTCCTTACCCATGTCCAGACCCCAACCAGGTTCCATCTATAAAACCACCTGGAGTCCATCTACTGCTCCCCCTTGCTCCTGCCATCTCCTGCCCAGTCCCTGCCACAGCCCCTCTCTAGCCAGCCTACCTGCACTGTGACCCCACACAGCAGCAGAGCAAACCTTAGACCATGACACTGCTCTTCCCCTGCGCTCAGCTCCCCACACCCC | CCATGGACTCCATGCCAATGCCAAAAGAGGGATGACACACTTCTCAGCAGAGGATTTTATTGGTGGTCACCTGTGGCACAGGTTAGAGGAGCCGAAGTGCTGTGTTTGTGGTGGGGGGGGGACCACAAACCCCGGCCCTGCCCTCTTGCTTACATAGGCTTCCCGCCTAGAAGCGCAGCCAGAACATGCCGCTACGGATCCGGTTGTAGTCTGGGAGCTGCTCAATGGGGCCTGTGGGGATAGGGTGGAGCGTCAGGGTGGGGTACCTGGCCTGCACAGGGACACCTGGCCCTGTGCCGCACCCAGCTCGGAGATGCTGCCCAGAGCAGCACAAGACAGGCTTTGAGTGGAAAGAGAGGAGAGAACATTCCCCCAGGGGTGCTGAGCCTGTCCCTTCATGTTCTGGCCCTTGAAGCCCCACCCCACATGGAGGTGCCCGTTACCTGACGGGTGCAGGGTATTGATGAAGGCACCTTGGCAGGCAGTCAAGGAACTGCTGGGACAGGTTTTCTGAGCAAGAACTCCCTGGCAGCCAGGGGACTGGGGAGAGCTGCTTGGGGCCTTAACTGGCTGCTCTGTAAGCTGAGCAGCAGTGCGGGAGCAGAGGTGGAAGGGGAGGCCAAGAGAACGGCCTGAGGAAATAAACAAAGAGCAGACCCCCTAGGCCACTTACCATATCCAGCCACTGCTGGGCACTGGTCATAGATGTACTTGGAGCAGATCTCACGTACCACACTGGCATCCACCTCCTGCAGGGTGAGGCAGAGGGCATACTGGCTAACGGGCACCTGGCCACCACCTCAGCCAGTCAGCATCATCCAACTAGCAGAGATCTCCCACAGGCAGCATGCAGCTGTCCCCAGCCCAAAAGAGGAAAGGCAGAAGGGATCCCTGCTATAGACCTCCATGGGCCCCGCCCATCTCCACAGCCATCAGCACCTATGCCCTGCCCTCCCACTATGCTACCCCTGCAGGTGACAGCTGCCTAGGACACCAGGGATGCCTATAGGAGCAGGCTGCGCTATGCCAGGCCCCAACCCTACACCTCCCAGGTGTCTGCCAGGCCAAGACTCCAGAACCTCTCCCAGGGGTCCATGTTACCGCAATCCGGCTTTCCCATTCAGCCAGGGGGATGCGGCGGCCATAGGTCAGGAGGCTGCGTCCGATGTCCTCACACACAGGAGTAGTGCCTTTAAGGGTGAGAGAAGGCTCAGAGGTCCACCCAGCCCAATCCTGGACCCACAGGTACACAAACAATCTCCAGCCTCAGGTTGACAAGGACCTCCCTGACCTCATGCTGACTCAGATCACAGCCCTCTCTTCTATGGTCACCTATTATGGCAGTGATGGGCTGTGGACCTGTCTCACACCTGCCTGCATCTCCAAGGGTGGGGTGATGGGGCATGGCGTGGTCTTCAAAGTTTTCCTTTCTAACCTTGGTTAGTTAGGAGCAGTGGCCACCTTGGTGCTGTCGCTGGCAAGATGTACTCTACCCCTCCCCGCTGAGCTGTAGGACTCACCATCTAGATGAGATACCAGGGCATTTCTGAGGATGTTTTTGCCCCGGGCCACCTCACTCTCCGTGGCACTGGTACACAGGCGCATCCTAAAGTGGGGGGGTGGGTGGTATTCATTCTGAGCCAGTGTGTCATCTCTCAGCCTCCCACTGTGCTGGTTAAAGCCGCCATCCCACCTAGGAATACCAGGCTGCCACTTACCACTGCCCTTGCAGGACGAACATCATGTCATCGATTTTCATTCGGTCACAGACAAAGTGTGCACCCAGCAAGCCCGTCTCTGCATAGCAGATGCTGAAGGTCTGGAAACTCTGGCATAGCTTGTTGGCCACAGCACCTGAAGCCAGTGGGCTGGACAGGTGCTGCCAGGGGGATAGGTGGTCAGCACCCACCCTCTTGTCTTCAACGCACACTGTGACCCCCACGCACAGGAGCACACAGCCCCAGCACCCTCTCTTCCCTGAAGGCGAGGTCCCATGCTCGCGCTGGCACTCACCACGCCACCACCATAAGTGCAGTCATAGTGGCCGAGGATGGCATTGGCCACTTGCAAGGCCACATTGTCCGGGCTGGCCCAGCCAGGACCCTCTACTGCAATGGCCACGTGGGCAAAAGGTAGAGCATCATCACGGTGGCGGATCTGAAACAGTACATGACAAGGCTGAGGAACAGCCAGACTGCCAGGGGAACAGAAAAGGTGGCAGGTGTGGGTAGAGGGTGTATGTGTGTGAACATGTGTGCCTGTGATGCAGCAGCCACAGAACCCCTTCCCAACTGCTGAGGTATCTCTGGAGTCACCAGGATAACCATGCACATGGGGGTCCTCCCACAGGCCCCCAGCTGAGCACTACTCCTGCCCAAAAGGCAGCATACCTCACTGCCAGTGAAGCGGCATGGAGTAAGAGTGGGCACAGCGTCCTCTGCATATGTCCATGGGATGCCACCGAGGTGCTTCTGGGCGAGGTCTAACAGTTGCTGGTGCTCCACTCCTGCTGAGACAGACAGTGGCATTACTGACCAGCCAGGGCCCAAGGCACAGGGTGGGGCGATTCACAGACAGGCAGAGGACCCCCATGTCCTGTCTTAGTGGGAGAAACCAGGAGTATGTGACATTAGAACAGGGTGAGGAAAGAAGGTCCTCCTCAGACAGACCCTGCCTTGTGGACAGGACAGGCACCTCAGGGCCAAATAGCTCCCATGGCCTCAGTCCCAGGAGAGCAAAAGCGTTCAGAGTTTCAAAATGGGCTGCCATGTGATCCAAGTGTGGGTTCTCACTTGAGAAGATGCATTCCACCTACATCAAGGACAAGACTGGTACTCCTGGGCACAAAGCCACCTGGCCTGCCTTTTCCCTCTAGCTCTCCCTCAAGTATTTCTGGCTGCTGGCCCTGCAGGGGGTGGCAAGTGAGGGGGCAGAAAGAGGAGCTATTACAGGGCTGTGATTAGCTCTTGGGTCCCCTGAGAGCTGGGGACATTTGCAAATAATGTTACAAACGTATACCCTAGGACTCCTTGGATCTTGCCTCCTCACCTCCACAAGAGGAGGGCTCTGTGGTGCCACCAGTTGCATTGGCCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGCACAGTGGTGCAATCTCAGCTAACTGCAAGCTCCACCTCCCGGGTCCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAGCTCCTGATCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCGTTGGCCTTTCATTCCTTCCTTCCATGAGCTCAAGCCCTGCTAGTCTGACACACACGTCAGATTGCTCTTGCCCCCAGGTTCCCCAGCTCCAAAGCCCCTGGTCATGCTCTTCCTATTGGTCTTTTCTGCACACTCAGCCGCCAAGGTCATAAGCTGGGAAGCATGTTTGTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTTGTGCAGGCCGGAGTGCAGTGGTACAATCTCAGCTCGCTGCAACCTCCGTCCCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTATAGGCAACTGCCACCAAGCCTGGCTAATTTTTGTATTTTTACCAGAGACGGGGTTTTGTCACGTTGGCTGGGCTGGTCTCGAACTCCTTACCTCAGGTGATTCACCCACCTCGGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGACCAGCCAAGATGGGAAGCACCTTGACCTCAGTTCCTTACCCATGTCCAGACCCCAACCAGGTTCCATCTATAAAACCACCTGGAGTCCATCTACTGCTCCCCCTTGCTCCTGCCATCTCCTGCCCAGTCCCTGCCACAGCCCCTCTCTAGCCAGCCTACCTGCACTGTGACCCCACACAGCAGCAGAGCAAACCTTAGACCATGACACTGCTCTTCCCCTGCGCTCAGCTCCCCACACCCC |
Task1_train_6990 | The gene SLC25A20 (solute carrier family 25 member 20) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Carnitine acylcarnitine translocase deficiency | TAGCATAATCTGCCTGATTAGTAAAGTTAAGCTAGCTACCTCAGATCGCACAGCAACTCCAAAGCCCACATGAAAACCCGAGATTGCTTTTGTCCTTTTAGAACAACTGACTCTCCATCTGTTAGCTCAGACACCCATGGTGCTCAGGGAAGAGAGGGGAATAAATGAAGGGATGGGTTGCAGGCTGGGCCTTGGGAGGGCCTGTCTGCCAGGCTTGCATTGAGGCCTGTGTGAACAATTACCAGTCGGGTCACACCACCCCACACACCCTCCCTAGAGCAGCCGGGGCTAGGGCAGTCAGAGAAGGCAGAGCCAGCCAAAACTTCCTCCTCCTCCACCTCCTCCTGCTGGATCCCCAGCCTAAGGTTCCCAGGGAAGAATACTGGATCCCTGAAAGCCTCCACCAAGGCTACAGGCTGCCTGCTGAAATGTCCCAGAATCAAAAGAAGAAAATATAACACAATGCAAAAATTAGAAACAACGTTTATTGTTTATTGTTAAAATAGTGAGCTCTCATGAGAAAAGAGTATGTAAAAAGGGCCTTCCTACACCCTGGGCTTTCTCACTTATCCCAGCAGACTGGGACTGTCCTCACTGTGTAGGAGGGAAAGTTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGACTGTGGTAGGACCAGCAGTTAACTGGTAGGCAGCATTCTTGCCACAGGTAGTATCTGGTCTGGAAGCTACTTGTTCCATTTCCAAATCCTTTTAAGATCCCTTAAATTGATAAGAATGAATTCAAGTTTCAAAATGACACACTAAGTTATACACGGTGCAGGATGTCATTAAGGCAACAGTCTCACCAAGTCCATGCACAGGGCTCGGATCTCACCATTCCCCTCCCCTTGCCCTCCAAGACTGCTTAGTTCTGCTTACTACTCCTTCTCCTCAACGACAGCTTCCAGCATCCAGAAGTGAACTTGAGCAGCCTTCAGCCTCACAAGTTGGGGGTGGCCCAATTAAGGAACTTCATGGCAACTTCAAAGCCAAGGAAACAGGCCTAAGAAGGGATTGGGAGGAAGAAAAAAGCCAGCAGGAATAACTATTCATAGACTATTCAAAGCACTATGCTTTGCTGGCCCTGTCAGGACCAGAGCCCCTCCCTAACCCCACACCCACTCCACATCAAGGATGCAAGCTCTACTCTCTCATTTTTAAGAGGAGAAGAAAATTTATATTCCACAACTGCCCACTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGTTGAAGTGCAATGGTACAATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTAAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGTGTTTCCCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACTAGCCACCATGCCTGGCCTCACAACTGCCCACTTCTAATGGCCAGGTCAGGAAATCAAAGCCCCTCACCTCAGAGATCCCCAAAGGCAAATCCTCCTGACAGCTTCAAGGAAGGGAGCAAATAAGGAATGCTCTGGCTGAAGATAGGGCTTTGGGAAAACTGAGACCCCAGTCCTATCCCAGGAACAAGCAAAAGTCAAACCACATGCACCCTGCCCTGAGCCCCAGAGGGAAAGCACAGCCCTGCCAGCTACTCACCGCATTGGCTGGGAAGGCTCGGATCATCACTGCATTGAACCCTTTGTACAAGGATGTGACTCCTTCATCCCGGATCAGCTCCCTCAGCACATCTCTGAAACCATTAGGATATTTCCCAGGAGGTGCTGTGGGGCAGAACCCAATTTTTAAGGCTTCAGGAAGGAGAAACTAGCAGTTAAGTCTTCCTGAAGGGTCAGGACTAGCACAGGGAAAGGACACCTTGCAGGTCATGTGGGACCAGTCCATAGACAACAGTTCACCTTGGGACAAATGCACAAATGCCTGAATTACTTGTGCCAAGGGAATAGAAACGAGGGAAGAAGAATGAAACAGCCCTTCTGTTCATGTGGGGGAGGAAGAGTGGACTTGACTTCTTATCACACTTACCTTGTGTTTAGGCTGTCATGAAAATGAATCTAGGGTTCCTAGAATGCAAATGACTGTGAGGGAGAATATTGGTCAGGCAGATGCTAGGTGCTGCCATGGAGAGTGAGTATCCCTAGGGCCTTATGAGCTTTGCACCCCAGGATTAGCCAGTGCTGGGGACCCACTCTCCCCCTGTCCACCCCACTACCTTCCACTCACCAGTCTGGAATCGAGACTTGAGCACATCTGGGGGGATTGCCACAGCCCAGTTGAAGATCCCTGCAATGCCCCCAGCCACCAAGATCCGAGGGGCACTGAGCTCACTGACCCTGTATAACACCAACCACAGCCCCAGTTAGACAAAGGCTGTGAGAGTGGCATTCAGACTATCCTGCCTGTGGCAGACAGGGCAGTTACAGACAGGCAGAAACTGGTTGGAGGGAGGAGGTATAAGGCCAGTGCTGCTGGCACTCCTTGGAGAAGGTTTCATGCACCTGTTTCAAATATTTGCTCCACTGGCTGAGGCACAGAGTAAGAAGAGCTAGCTGGACCTCAGCAGCCACAAGAGGAAAGCAGACATGGAGCCAGGAACAACAACTACTTCTGCTTTCAGATTCACCCACAGGAGAGGGCAACGCACCCATGACTGGGGAAAGTGGCTTCCAAGTTATGTTTTCCTCACCTCTTTCCCTCCGGAGTGAAGATATTTTTCAGCCATTCATATGTCATGAAATACATTCCACTAGCTGGGACATCTGTTAGTGGCAAGAAAAAGGTGAATTAAAGTACATAAACTCTTCGCCAGGCATGGTGGTACACACCTGTAATCTCAGCAATTTAGGAGATTGAGGCAGGGGGATTGCTTGAGGCCAGGAGGTCCGCGCTTGGCCTGAATTATTAGTAAAATTGTTTTTTAATTGGGTGACCAGATTTGGTTCAATTTATTTGCTTTCTAAACATTAGCGTATGGTAGTAATTTATGTAGACTAAAAAAGCATTAAAAAGAAAAAAATGCCAGGCATGGTAGCTCATAACTGTAATCCGAGCACTTTGGGAGGCTGAGGCAGGCACATCACCTGAGGCCAGGAATTCGAGACCAGTCTGGCCAATATGGCGAAAGCCTCGTCTCTACTAAAAATATAAAAATGGGCCGGGCATAGTGGCTCATGCCTTTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATACAAAAATACAAAAATGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTAAGCTGA | TAGCATAATCTGCCTGATTAGTAAAGTTAAGCTAGCTACCTCAGATCGCACAGCAACTCCAAAGCCCACATGAAAACCCGAGATTGCTTTTGTCCTTTTAGAACAACTGACTCTCCATCTGTTAGCTCAGACACCCATGGTGCTCAGGGAAGAGAGGGGAATAAATGAAGGGATGGGTTGCAGGCTGGGCCTTGGGAGGGCCTGTCTGCCAGGCTTGCATTGAGGCCTGTGTGAACAATTACCAGTCGGGTCACACCACCCCACACACCCTCCCTAGAGCAGCCGGGGCTAGGGCAGTCAGAGAAGGCAGAGCCAGCCAAAACTTCCTCCTCCTCCACCTCCTCCTGCTGGATCCCCAGCCTAAGGTTCCCAGGGAAGAATACTGGATCCCTGAAAGCCTCCACCAAGGCTACAGGCTGCCTGCTGAAATGTCCCAGAATCAAAAGAAGAAAATATAACACAATGCAAAAATTAGAAACAACGTTTATTGTTTATTGTTAAAATAGTGAGCTCTCATGAGAAAAGAGTATGTAAAAAGGGCCTTCCTACACCCTGGGCTTTCTCACTTATCCCAGCAGACTGGGACTGTCCTCACTGTGTAGGAGGGAAAGTTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGACTGTGGTAGGACCAGCAGTTAACTGGTAGGCAGCATTCTTGCCACAGGTAGTATCTGGTCTGGAAGCTACTTGTTCCATTTCCAAATCCTTTTAAGATCCCTTAAATTGATAAGAATGAATTCAAGTTTCAAAATGACACACTAAGTTATACACGGTGCAGGATGTCATTAAGGCAACAGTCTCACCAAGTCCATGCACAGGGCTCGGATCTCACCATTCCCCTCCCCTTGCCCTCCAAGACTGCTTAGTTCTGCTTACTACTCCTTCTCCTCAACGACAGCTTCCAGCATCCAGAAGTGAACTTGAGCAGCCTTCAGCCTCACAAGTTGGGGGTGGCCCAATTAAGGAACTTCATGGCAACTTCAAAGCCAAGGAAACAGGCCTAAGAAGGGATTGGGAGGAAGAAAAAAGCCAGCAGGAATAACTATTCATAGACTATTCAAAGCACTATGCTTTGCTGGCCCTGTCAGGACCAGAGCCCCTCCCTAACCCCACACCCACTCCACATCAAGGATGCAAGCTCTACTCTCTCATTTTTAAGAGGAGAAGAAAATTTATATTCCACAACTGCCCACTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGTTGAAGTGCAATGGTACAATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTAAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGTGTTTCCCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACTAGCCACCATGCCTGGCCTCACAACTGCCCACTTCTAATGGCCAGGTCAGGAAATCAAAGCCCCTCACCTCAGAGATCCCCAAAGGCAAATCCTCCTGACAGCTTCAAGGAAGGGAGCAAATAAGGAATGCTCTGGCTGAAGATAGGGCTTTGGGAAAACTGAGACCCCAGTCCTATCCCAGGAACAAGCAAAAGTCAAACCACATGCACCCTGCCCTGAGCCCCAGAGGGAAAGCACAGCCCTGCCAGCTACTCACCACATTGGCTGGGAAGGCTCGGATCATCACTGCATTGAACCCTTTGTACAAGGATGTGACTCCTTCATCCCGGATCAGCTCCCTCAGCACATCTCTGAAACCATTAGGATATTTCCCAGGAGGTGCTGTGGGGCAGAACCCAATTTTTAAGGCTTCAGGAAGGAGAAACTAGCAGTTAAGTCTTCCTGAAGGGTCAGGACTAGCACAGGGAAAGGACACCTTGCAGGTCATGTGGGACCAGTCCATAGACAACAGTTCACCTTGGGACAAATGCACAAATGCCTGAATTACTTGTGCCAAGGGAATAGAAACGAGGGAAGAAGAATGAAACAGCCCTTCTGTTCATGTGGGGGAGGAAGAGTGGACTTGACTTCTTATCACACTTACCTTGTGTTTAGGCTGTCATGAAAATGAATCTAGGGTTCCTAGAATGCAAATGACTGTGAGGGAGAATATTGGTCAGGCAGATGCTAGGTGCTGCCATGGAGAGTGAGTATCCCTAGGGCCTTATGAGCTTTGCACCCCAGGATTAGCCAGTGCTGGGGACCCACTCTCCCCCTGTCCACCCCACTACCTTCCACTCACCAGTCTGGAATCGAGACTTGAGCACATCTGGGGGGATTGCCACAGCCCAGTTGAAGATCCCTGCAATGCCCCCAGCCACCAAGATCCGAGGGGCACTGAGCTCACTGACCCTGTATAACACCAACCACAGCCCCAGTTAGACAAAGGCTGTGAGAGTGGCATTCAGACTATCCTGCCTGTGGCAGACAGGGCAGTTACAGACAGGCAGAAACTGGTTGGAGGGAGGAGGTATAAGGCCAGTGCTGCTGGCACTCCTTGGAGAAGGTTTCATGCACCTGTTTCAAATATTTGCTCCACTGGCTGAGGCACAGAGTAAGAAGAGCTAGCTGGACCTCAGCAGCCACAAGAGGAAAGCAGACATGGAGCCAGGAACAACAACTACTTCTGCTTTCAGATTCACCCACAGGAGAGGGCAACGCACCCATGACTGGGGAAAGTGGCTTCCAAGTTATGTTTTCCTCACCTCTTTCCCTCCGGAGTGAAGATATTTTTCAGCCATTCATATGTCATGAAATACATTCCACTAGCTGGGACATCTGTTAGTGGCAAGAAAAAGGTGAATTAAAGTACATAAACTCTTCGCCAGGCATGGTGGTACACACCTGTAATCTCAGCAATTTAGGAGATTGAGGCAGGGGGATTGCTTGAGGCCAGGAGGTCCGCGCTTGGCCTGAATTATTAGTAAAATTGTTTTTTAATTGGGTGACCAGATTTGGTTCAATTTATTTGCTTTCTAAACATTAGCGTATGGTAGTAATTTATGTAGACTAAAAAAGCATTAAAAAGAAAAAAATGCCAGGCATGGTAGCTCATAACTGTAATCCGAGCACTTTGGGAGGCTGAGGCAGGCACATCACCTGAGGCCAGGAATTCGAGACCAGTCTGGCCAATATGGCGAAAGCCTCGTCTCTACTAAAAATATAAAAATGGGCCGGGCATAGTGGCTCATGCCTTTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATACAAAAATACAAAAATGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTAAGCTGA |
Task1_train_6991 | Assess the clinical impact of this variant on gene SLC25A20 (solute carrier family 25 member 20), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Carnitine acylcarnitine translocase deficiency | CCTCACTGTGTAGGAGGGAAAGTTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGACTGTGGTAGGACCAGCAGTTAACTGGTAGGCAGCATTCTTGCCACAGGTAGTATCTGGTCTGGAAGCTACTTGTTCCATTTCCAAATCCTTTTAAGATCCCTTAAATTGATAAGAATGAATTCAAGTTTCAAAATGACACACTAAGTTATACACGGTGCAGGATGTCATTAAGGCAACAGTCTCACCAAGTCCATGCACAGGGCTCGGATCTCACCATTCCCCTCCCCTTGCCCTCCAAGACTGCTTAGTTCTGCTTACTACTCCTTCTCCTCAACGACAGCTTCCAGCATCCAGAAGTGAACTTGAGCAGCCTTCAGCCTCACAAGTTGGGGGTGGCCCAATTAAGGAACTTCATGGCAACTTCAAAGCCAAGGAAACAGGCCTAAGAAGGGATTGGGAGGAAGAAAAAAGCCAGCAGGAATAACTATTCATAGACTATTCAAAGCACTATGCTTTGCTGGCCCTGTCAGGACCAGAGCCCCTCCCTAACCCCACACCCACTCCACATCAAGGATGCAAGCTCTACTCTCTCATTTTTAAGAGGAGAAGAAAATTTATATTCCACAACTGCCCACTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGTTGAAGTGCAATGGTACAATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTAAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGTGTTTCCCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACTAGCCACCATGCCTGGCCTCACAACTGCCCACTTCTAATGGCCAGGTCAGGAAATCAAAGCCCCTCACCTCAGAGATCCCCAAAGGCAAATCCTCCTGACAGCTTCAAGGAAGGGAGCAAATAAGGAATGCTCTGGCTGAAGATAGGGCTTTGGGAAAACTGAGACCCCAGTCCTATCCCAGGAACAAGCAAAAGTCAAACCACATGCACCCTGCCCTGAGCCCCAGAGGGAAAGCACAGCCCTGCCAGCTACTCACCGCATTGGCTGGGAAGGCTCGGATCATCACTGCATTGAACCCTTTGTACAAGGATGTGACTCCTTCATCCCGGATCAGCTCCCTCAGCACATCTCTGAAACCATTAGGATATTTCCCAGGAGGTGCTGTGGGGCAGAACCCAATTTTTAAGGCTTCAGGAAGGAGAAACTAGCAGTTAAGTCTTCCTGAAGGGTCAGGACTAGCACAGGGAAAGGACACCTTGCAGGTCATGTGGGACCAGTCCATAGACAACAGTTCACCTTGGGACAAATGCACAAATGCCTGAATTACTTGTGCCAAGGGAATAGAAACGAGGGAAGAAGAATGAAACAGCCCTTCTGTTCATGTGGGGGAGGAAGAGTGGACTTGACTTCTTATCACACTTACCTTGTGTTTAGGCTGTCATGAAAATGAATCTAGGGTTCCTAGAATGCAAATGACTGTGAGGGAGAATATTGGTCAGGCAGATGCTAGGTGCTGCCATGGAGAGTGAGTATCCCTAGGGCCTTATGAGCTTTGCACCCCAGGATTAGCCAGTGCTGGGGACCCACTCTCCCCCTGTCCACCCCACTACCTTCCACTCACCAGTCTGGAATCGAGACTTGAGCACATCTGGGGGGATTGCCACAGCCCAGTTGAAGATCCCTGCAATGCCCCCAGCCACCAAGATCCGAGGGGCACTGAGCTCACTGACCCTGTATAACACCAACCACAGCCCCAGTTAGACAAAGGCTGTGAGAGTGGCATTCAGACTATCCTGCCTGTGGCAGACAGGGCAGTTACAGACAGGCAGAAACTGGTTGGAGGGAGGAGGTATAAGGCCAGTGCTGCTGGCACTCCTTGGAGAAGGTTTCATGCACCTGTTTCAAATATTTGCTCCACTGGCTGAGGCACAGAGTAAGAAGAGCTAGCTGGACCTCAGCAGCCACAAGAGGAAAGCAGACATGGAGCCAGGAACAACAACTACTTCTGCTTTCAGATTCACCCACAGGAGAGGGCAACGCACCCATGACTGGGGAAAGTGGCTTCCAAGTTATGTTTTCCTCACCTCTTTCCCTCCGGAGTGAAGATATTTTTCAGCCATTCATATGTCATGAAATACATTCCACTAGCTGGGACATCTGTTAGTGGCAAGAAAAAGGTGAATTAAAGTACATAAACTCTTCGCCAGGCATGGTGGTACACACCTGTAATCTCAGCAATTTAGGAGATTGAGGCAGGGGGATTGCTTGAGGCCAGGAGGTCCGCGCTTGGCCTGAATTATTAGTAAAATTGTTTTTTAATTGGGTGACCAGATTTGGTTCAATTTATTTGCTTTCTAAACATTAGCGTATGGTAGTAATTTATGTAGACTAAAAAAGCATTAAAAAGAAAAAAATGCCAGGCATGGTAGCTCATAACTGTAATCCGAGCACTTTGGGAGGCTGAGGCAGGCACATCACCTGAGGCCAGGAATTCGAGACCAGTCTGGCCAATATGGCGAAAGCCTCGTCTCTACTAAAAATATAAAAATGGGCCGGGCATAGTGGCTCATGCCTTTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATACAAAAATACAAAAATGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTAAGCTGAGATCGAGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAATAATAATAATACAAAAAATACAAAAATTAGCCCGGCCTGGTGGCACATGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCACAGGAATCACTCGAACCCAGAAGGTGGAGGTTGCAGTAAGCCAAGATCACACTAATGCACTCCTGGCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAGAAAAAGAATATAGTATTATTATTATTATTACTTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTCTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATGCATGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCACGCCCAGCTATTATTATTTTAATAGAG | CCTCACTGTGTAGGAGGGAAAGTTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGACTGTGGTAGGACCAGCAGTTAACTGGTAGGCAGCATTCTTGCCACAGGTAGTATCTGGTCTGGAAGCTACTTGTTCCATTTCCAAATCCTTTTAAGATCCCTTAAATTGATAAGAATGAATTCAAGTTTCAAAATGACACACTAAGTTATACACGGTGCAGGATGTCATTAAGGCAACAGTCTCACCAAGTCCATGCACAGGGCTCGGATCTCACCATTCCCCTCCCCTTGCCCTCCAAGACTGCTTAGTTCTGCTTACTACTCCTTCTCCTCAACGACAGCTTCCAGCATCCAGAAGTGAACTTGAGCAGCCTTCAGCCTCACAAGTTGGGGGTGGCCCAATTAAGGAACTTCATGGCAACTTCAAAGCCAAGGAAACAGGCCTAAGAAGGGATTGGGAGGAAGAAAAAAGCCAGCAGGAATAACTATTCATAGACTATTCAAAGCACTATGCTTTGCTGGCCCTGTCAGGACCAGAGCCCCTCCCTAACCCCACACCCACTCCACATCAAGGATGCAAGCTCTACTCTCTCATTTTTAAGAGGAGAAGAAAATTTATATTCCACAACTGCCCACTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGTTGAAGTGCAATGGTACAATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTAAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGTGTTTCCCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACTAGCCACCATGCCTGGCCTCACAACTGCCCACTTCTAATGGCCAGGTCAGGAAATCAAAGCCCCTCACCTCAGAGATCCCCAAAGGCAAATCCTCCTGACAGCTTCAAGGAAGGGAGCAAATAAGGAATGCTCTGGCTGAAGATAGGGCTTTGGGAAAACTGAGACCCCAGTCCTATCCCAGGAACAAGCAAAAGTCAAACCACATGCACCCTGCCCTGAGCCCCAGAGGGAAAGCACAGCCCTGCCAGCTACTCACCGCATTGGCTGGGAAGGCTCGGATCATCACTGCATTGAACCCTTTGTACAAGGATGTGACTCCTTCATCCCGGATCAGCTCCCTCAGCACATCTCTGAAACCATTAGGATATTTCCCAGGAGGTGCTGTGGGGCAGAACCCAATTTTTAAGGCTTCAGGAAGGAGAAACTAGCAGTTAAGTCTTCCTGAAGGGTCAGGACTAGCACAGGGAAAGGACACCTTGCAGGTCATGTGGGACCAGTCCATAGACAACAGTTCACCTTGGGACAAATGCACAAATGCCTGAATTACTTGTGCCAAGGGAATAGAAACGAGGGAAGAAGAATGAAACAGCCCTTCTGTTCATGTGGGGGAGGAAGAGTGGACTTGACTTCTTATCACACTTACCTTGTGTTTAGGCTGTCATGAAAATGAATCTAGGGTTCCTAGAATGCAAATGACTGTGAGGGAGAATATTGGTCAGGCAGATGCTAGGTGCTGCCATGGAGAGTGAGTATCCCTAGGGCCTTATGAGCTTTGCACCCCAGGATTAGCCAGTGCTGGGGACCCACTCTCCCCCTGTCCACCCCACTACCTTCCACTCACCAGTCCGGAATCGAGACTTGAGCACATCTGGGGGGATTGCCACAGCCCAGTTGAAGATCCCTGCAATGCCCCCAGCCACCAAGATCCGAGGGGCACTGAGCTCACTGACCCTGTATAACACCAACCACAGCCCCAGTTAGACAAAGGCTGTGAGAGTGGCATTCAGACTATCCTGCCTGTGGCAGACAGGGCAGTTACAGACAGGCAGAAACTGGTTGGAGGGAGGAGGTATAAGGCCAGTGCTGCTGGCACTCCTTGGAGAAGGTTTCATGCACCTGTTTCAAATATTTGCTCCACTGGCTGAGGCACAGAGTAAGAAGAGCTAGCTGGACCTCAGCAGCCACAAGAGGAAAGCAGACATGGAGCCAGGAACAACAACTACTTCTGCTTTCAGATTCACCCACAGGAGAGGGCAACGCACCCATGACTGGGGAAAGTGGCTTCCAAGTTATGTTTTCCTCACCTCTTTCCCTCCGGAGTGAAGATATTTTTCAGCCATTCATATGTCATGAAATACATTCCACTAGCTGGGACATCTGTTAGTGGCAAGAAAAAGGTGAATTAAAGTACATAAACTCTTCGCCAGGCATGGTGGTACACACCTGTAATCTCAGCAATTTAGGAGATTGAGGCAGGGGGATTGCTTGAGGCCAGGAGGTCCGCGCTTGGCCTGAATTATTAGTAAAATTGTTTTTTAATTGGGTGACCAGATTTGGTTCAATTTATTTGCTTTCTAAACATTAGCGTATGGTAGTAATTTATGTAGACTAAAAAAGCATTAAAAAGAAAAAAATGCCAGGCATGGTAGCTCATAACTGTAATCCGAGCACTTTGGGAGGCTGAGGCAGGCACATCACCTGAGGCCAGGAATTCGAGACCAGTCTGGCCAATATGGCGAAAGCCTCGTCTCTACTAAAAATATAAAAATGGGCCGGGCATAGTGGCTCATGCCTTTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATACAAAAATACAAAAATGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTAAGCTGAGATCGAGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAATAATAATAATACAAAAAATACAAAAATTAGCCCGGCCTGGTGGCACATGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCACAGGAATCACTCGAACCCAGAAGGTGGAGGTTGCAGTAAGCCAAGATCACACTAATGCACTCCTGGCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAGAAAAAGAATATAGTATTATTATTATTATTACTTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTCTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATGCATGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCACGCCCAGCTATTATTATTTTAATAGAG |
Task1_train_6992 | Gene SLC25A20 (solute carrier family 25 member 20) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Carnitine acylcarnitine translocase deficiency | TTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGACTGTGGTAGGACCAGCAGTTAACTGGTAGGCAGCATTCTTGCCACAGGTAGTATCTGGTCTGGAAGCTACTTGTTCCATTTCCAAATCCTTTTAAGATCCCTTAAATTGATAAGAATGAATTCAAGTTTCAAAATGACACACTAAGTTATACACGGTGCAGGATGTCATTAAGGCAACAGTCTCACCAAGTCCATGCACAGGGCTCGGATCTCACCATTCCCCTCCCCTTGCCCTCCAAGACTGCTTAGTTCTGCTTACTACTCCTTCTCCTCAACGACAGCTTCCAGCATCCAGAAGTGAACTTGAGCAGCCTTCAGCCTCACAAGTTGGGGGTGGCCCAATTAAGGAACTTCATGGCAACTTCAAAGCCAAGGAAACAGGCCTAAGAAGGGATTGGGAGGAAGAAAAAAGCCAGCAGGAATAACTATTCATAGACTATTCAAAGCACTATGCTTTGCTGGCCCTGTCAGGACCAGAGCCCCTCCCTAACCCCACACCCACTCCACATCAAGGATGCAAGCTCTACTCTCTCATTTTTAAGAGGAGAAGAAAATTTATATTCCACAACTGCCCACTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGTTGAAGTGCAATGGTACAATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTAAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGTGTTTCCCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACTAGCCACCATGCCTGGCCTCACAACTGCCCACTTCTAATGGCCAGGTCAGGAAATCAAAGCCCCTCACCTCAGAGATCCCCAAAGGCAAATCCTCCTGACAGCTTCAAGGAAGGGAGCAAATAAGGAATGCTCTGGCTGAAGATAGGGCTTTGGGAAAACTGAGACCCCAGTCCTATCCCAGGAACAAGCAAAAGTCAAACCACATGCACCCTGCCCTGAGCCCCAGAGGGAAAGCACAGCCCTGCCAGCTACTCACCGCATTGGCTGGGAAGGCTCGGATCATCACTGCATTGAACCCTTTGTACAAGGATGTGACTCCTTCATCCCGGATCAGCTCCCTCAGCACATCTCTGAAACCATTAGGATATTTCCCAGGAGGTGCTGTGGGGCAGAACCCAATTTTTAAGGCTTCAGGAAGGAGAAACTAGCAGTTAAGTCTTCCTGAAGGGTCAGGACTAGCACAGGGAAAGGACACCTTGCAGGTCATGTGGGACCAGTCCATAGACAACAGTTCACCTTGGGACAAATGCACAAATGCCTGAATTACTTGTGCCAAGGGAATAGAAACGAGGGAAGAAGAATGAAACAGCCCTTCTGTTCATGTGGGGGAGGAAGAGTGGACTTGACTTCTTATCACACTTACCTTGTGTTTAGGCTGTCATGAAAATGAATCTAGGGTTCCTAGAATGCAAATGACTGTGAGGGAGAATATTGGTCAGGCAGATGCTAGGTGCTGCCATGGAGAGTGAGTATCCCTAGGGCCTTATGAGCTTTGCACCCCAGGATTAGCCAGTGCTGGGGACCCACTCTCCCCCTGTCCACCCCACTACCTTCCACTCACCAGTCTGGAATCGAGACTTGAGCACATCTGGGGGGATTGCCACAGCCCAGTTGAAGATCCCTGCAATGCCCCCAGCCACCAAGATCCGAGGGGCACTGAGCTCACTGACCCTGTATAACACCAACCACAGCCCCAGTTAGACAAAGGCTGTGAGAGTGGCATTCAGACTATCCTGCCTGTGGCAGACAGGGCAGTTACAGACAGGCAGAAACTGGTTGGAGGGAGGAGGTATAAGGCCAGTGCTGCTGGCACTCCTTGGAGAAGGTTTCATGCACCTGTTTCAAATATTTGCTCCACTGGCTGAGGCACAGAGTAAGAAGAGCTAGCTGGACCTCAGCAGCCACAAGAGGAAAGCAGACATGGAGCCAGGAACAACAACTACTTCTGCTTTCAGATTCACCCACAGGAGAGGGCAACGCACCCATGACTGGGGAAAGTGGCTTCCAAGTTATGTTTTCCTCACCTCTTTCCCTCCGGAGTGAAGATATTTTTCAGCCATTCATATGTCATGAAATACATTCCACTAGCTGGGACATCTGTTAGTGGCAAGAAAAAGGTGAATTAAAGTACATAAACTCTTCGCCAGGCATGGTGGTACACACCTGTAATCTCAGCAATTTAGGAGATTGAGGCAGGGGGATTGCTTGAGGCCAGGAGGTCCGCGCTTGGCCTGAATTATTAGTAAAATTGTTTTTTAATTGGGTGACCAGATTTGGTTCAATTTATTTGCTTTCTAAACATTAGCGTATGGTAGTAATTTATGTAGACTAAAAAAGCATTAAAAAGAAAAAAATGCCAGGCATGGTAGCTCATAACTGTAATCCGAGCACTTTGGGAGGCTGAGGCAGGCACATCACCTGAGGCCAGGAATTCGAGACCAGTCTGGCCAATATGGCGAAAGCCTCGTCTCTACTAAAAATATAAAAATGGGCCGGGCATAGTGGCTCATGCCTTTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATACAAAAATACAAAAATGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTAAGCTGAGATCGAGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAATAATAATAATACAAAAAATACAAAAATTAGCCCGGCCTGGTGGCACATGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCACAGGAATCACTCGAACCCAGAAGGTGGAGGTTGCAGTAAGCCAAGATCACACTAATGCACTCCTGGCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAGAAAAAGAATATAGTATTATTATTATTATTACTTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTCTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATGCATGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCACGCCCAGCTATTATTATTTTAATAGAGACAGGGTATCACTATTTTACCC | TTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGACTGTGGTAGGACCAGCAGTTAACTGGTAGGCAGCATTCTTGCCACAGGTAGTATCTGGTCTGGAAGCTACTTGTTCCATTTCCAAATCCTTTTAAGATCCCTTAAATTGATAAGAATGAATTCAAGTTTCAAAATGACACACTAAGTTATACACGGTGCAGGATGTCATTAAGGCAACAGTCTCACCAAGTCCATGCACAGGGCTCGGATCTCACCATTCCCCTCCCCTTGCCCTCCAAGACTGCTTAGTTCTGCTTACTACTCCTTCTCCTCAACGACAGCTTCCAGCATCCAGAAGTGAACTTGAGCAGCCTTCAGCCTCACAAGTTGGGGGTGGCCCAATTAAGGAACTTCATGGCAACTTCAAAGCCAAGGAAACAGGCCTAAGAAGGGATTGGGAGGAAGAAAAAAGCCAGCAGGAATAACTATTCATAGACTATTCAAAGCACTATGCTTTGCTGGCCCTGTCAGGACCAGAGCCCCTCCCTAACCCCACACCCACTCCACATCAAGGATGCAAGCTCTACTCTCTCATTTTTAAGAGGAGAAGAAAATTTATATTCCACAACTGCCCACTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGTTGAAGTGCAATGGTACAATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTAAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGTGTTTCCCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACTAGCCACCATGCCTGGCCTCACAACTGCCCACTTCTAATGGCCAGGTCAGGAAATCAAAGCCCCTCACCTCAGAGATCCCCAAAGGCAAATCCTCCTGACAGCTTCAAGGAAGGGAGCAAATAAGGAATGCTCTGGCTGAAGATAGGGCTTTGGGAAAACTGAGACCCCAGTCCTATCCCAGGAACAAGCAAAAGTCAAACCACATGCACCCTGCCCTGAGCCCCAGAGGGAAAGCACAGCCCTGCCAGCTACTCACCGCATTGGCTGGGAAGGCTCGGATCATCACTGCATTGAACCCTTTGTACAAGGATGTGACTCCTTCATCCCGGATCAGCTCCCTCAGCACATCTCTGAAACCATTAGGATATTTCCCAGGAGGTGCTGTGGGGCAGAACCCAATTTTTAAGGCTTCAGGAAGGAGAAACTAGCAGTTAAGTCTTCCTGAAGGGTCAGGACTAGCACAGGGAAAGGACACCTTGCAGGTCATGTGGGACCAGTCCATAGACAACAGTTCACCTTGGGACAAATGCACAAATGCCTGAATTACTTGTGCCAAGGGAATAGAAACGAGGGAAGAAGAATGAAACAGCCCTTCTGTTCATGTGGGGGAGGAAGAGTGGACTTGACTTCTTATCACACTTACCTTGTGTTTAGGCTGTCATGAAAATGAATCTAGGGTTCCTAGAATGCAAATGACTGTGAGGGAGAATATTGGTCAGGCAGATGCTAGGTGCTGCCATGGAGAGTGAGTATCCCTAGGGCCTTATGAGCTTTGCACCCCAGGATTAGCCAGTGCTGGGGACCCACTCTCCCCCTGTCCACCCCACTACCTTCCACTCACCAGTCTGGAATCGAGACTTGAGCACATGTGGGGGGATTGCCACAGCCCAGTTGAAGATCCCTGCAATGCCCCCAGCCACCAAGATCCGAGGGGCACTGAGCTCACTGACCCTGTATAACACCAACCACAGCCCCAGTTAGACAAAGGCTGTGAGAGTGGCATTCAGACTATCCTGCCTGTGGCAGACAGGGCAGTTACAGACAGGCAGAAACTGGTTGGAGGGAGGAGGTATAAGGCCAGTGCTGCTGGCACTCCTTGGAGAAGGTTTCATGCACCTGTTTCAAATATTTGCTCCACTGGCTGAGGCACAGAGTAAGAAGAGCTAGCTGGACCTCAGCAGCCACAAGAGGAAAGCAGACATGGAGCCAGGAACAACAACTACTTCTGCTTTCAGATTCACCCACAGGAGAGGGCAACGCACCCATGACTGGGGAAAGTGGCTTCCAAGTTATGTTTTCCTCACCTCTTTCCCTCCGGAGTGAAGATATTTTTCAGCCATTCATATGTCATGAAATACATTCCACTAGCTGGGACATCTGTTAGTGGCAAGAAAAAGGTGAATTAAAGTACATAAACTCTTCGCCAGGCATGGTGGTACACACCTGTAATCTCAGCAATTTAGGAGATTGAGGCAGGGGGATTGCTTGAGGCCAGGAGGTCCGCGCTTGGCCTGAATTATTAGTAAAATTGTTTTTTAATTGGGTGACCAGATTTGGTTCAATTTATTTGCTTTCTAAACATTAGCGTATGGTAGTAATTTATGTAGACTAAAAAAGCATTAAAAAGAAAAAAATGCCAGGCATGGTAGCTCATAACTGTAATCCGAGCACTTTGGGAGGCTGAGGCAGGCACATCACCTGAGGCCAGGAATTCGAGACCAGTCTGGCCAATATGGCGAAAGCCTCGTCTCTACTAAAAATATAAAAATGGGCCGGGCATAGTGGCTCATGCCTTTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATACAAAAATACAAAAATGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTAAGCTGAGATCGAGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAATAATAATAATACAAAAAATACAAAAATTAGCCCGGCCTGGTGGCACATGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCACAGGAATCACTCGAACCCAGAAGGTGGAGGTTGCAGTAAGCCAAGATCACACTAATGCACTCCTGGCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAGAAAAAGAATATAGTATTATTATTATTATTACTTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTCTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATGCATGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCACGCCCAGCTATTATTATTTTAATAGAGACAGGGTATCACTATTTTACCC |
Task1_train_6993 | The gene P4HTM (prolyl 4-hydroxylase, transmembrane), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | CCCAGCAGACAGCTTCCCTGGTCTAAGTGAGATCTCCCTTGCCTTCCTCTTGTCCACCTGGAGTCATGCCGAAGCGCCTAAAATGGTAGTGCTGCTACCTGTGCTAACTGCTGGGGAGGGGTGGGCAGGGAAGCTGTCATGCAAGTGGTGCCCCCTCTGGTAATAACTCTCAGGAGGTTTCTGAGGTGTGGTCATCACCCTCATGCCCAAATTCTGGACCAAGAGAGGAAGATACAGCAGTTAGAAAGGACTTGGAACAGTGGCTTTGCGGCTGGTGAACCAGAGTGAAGAATCTGGCCGTGACCTGTGGCTGGATGGCTGCCACACTGCTATAGGCCCCAGAACAGAGGTGGTGACAGTCTCACAGCCCTTGAATGTCCCCCACCCTCAGAGGAATCTGGGCCAAAGAGTGGAAGGTGATGTCCTTGGGTCAGCCAGAATAACATGGAGCAAAGATACCAACTACTCTTCCAGAACCCCAAGAGGGTAGAACCCCTGCTTAATGGTTTGAGCAGGGACAGTGGAGAATGTTCTCATGAGAGGGGGTGGCCTGACTTTCGTTGCTAAGGTGGGCTGGTAACGCAGTAGGCAGGGCTGGCGAAGTAGGTTCCACCCAGGATGAAACCTGGGGTCATGAGGAACTCCCCGGGGGCTGGCCCTGCTTGCACCCTGGCGTATGTATGTAAGGCCCTGGATGAGGCCCAGCACTGCCTGCTCTCTCCTCACCCTCCACAGGCCGGAGAGTGGCCACCACTCTATATAGCCAGGCTGGAAGGCCAGGGTCCTGGCCATATGGCTCAAGCTTCCTTTGGAGAACCTTCTCTGGCCACTCTAATAGGGGGTGGGCCTCTTTCTTCTTAGGGCCAAATTAGGGCTTAAACTGAGAAAAGGAACTGCTCTGGGTCTTCCTGTAAGGCCTGATGTGACAGAAACCAGGTTCATCTGACCCAAAAGTCCAGGTGGGGGACAAGTGTACAAGGCCCCTCAGTGCCTGAGGTCAGGGGCTGCTGCTGCCTTTGGGGTAGGTAGGGAAGTGCAGCCTGCCACTGTTGCCTCCCAATATGGGCTTGGTGGGCATTGATGGTGGGTGCCCTGTGCAGGAGTGCTGAGTCTGCAGGAGTTCTCCAACATGGACCTTCGGGACTTCCACAAGTACATGAGGAGCCACAAGGCAGAGTCCAGTGAGCTGGTGCGGAACAGCCACCATACCTGGCTCTACCAGGGTGAGGGTGCCCACCACATCATGCGTGCCATCCGCCAGAGGTGAGCACCTGAAGCTGTTCTCACTGGAGCAGGGGGAGAAGACTGGGCAGGGCCTCCACAGAAGTCCTTGTCTGGGGCCAAGAGGACAGAATGGATTAACCCATTTGGGATTAAGTTCCATTTGTTAGACCAGGATTGGGACCCACTGAAAGACAGGCAATTAACAAAGGCAAATTAGCCCTCCTTGCAGGCACACAATGGGCAACTGGGGTTAGATAGAGATTGAGCACTTCTTTCTGATTAGATAAATGACCTCTTATCTTTGACCCCTTATCTGACCCCGTCACAGCAGGAAAAGGGTTTTTAAATAAACAACTTTCTTCCAGGGAGGAGGACCTCAGGACTCCCCGCCCCCTTTATTTAGTGGAAATGTCAACATTTCCACATAGCAGGTGTCTCTGTCTTTGGCATCTGAGGGAGAAGGATCATCATGAGTAACCCCCTCCTGCTCTTACAGGGCCAGTCTGAGATGGCTTAAGGGACTTCCAGGGGAGGTGGGTAGGGGCAAAGCTTGTGGCAGGCCTAGGGTCCACCTTGGCCAGCTCCTTCAGATCACCACCTTGCCTGGGGCTGCCCAGCCAAATGCCTGCTGCCCACCAGGGTGCTGCGCCTCACTCGCCTGTCGCCTGAGATCGTGGAGCTCAGCGAGCCGCTGCAGGTTGTTCGATATGGTGAGGGGGGCCACTACCATGCCCACGTGGACAGTGGGCCTGTGTACCCAGAGACCATCTGCTCCCATACCAAGCTGGTAGCCAACGAGTCTGTACCCTTCGAGACCTCCTGCCGGCAAGTATCTCCCAACTGGGGGCTGCCTTCAATCCTCAGACCAGGAACACCCATGACACAGGCACAGCCCTGCACTGTGGGCGTGCCCCTTGGCATGGGGCCAGGAGATCACTGGGTTATCCCGGTTAGTGATGCCCTCACCTCTCCCCACAAGTTGTTTACCCAATGGCTGGAAAGGGGTGGCTACTGGTCATCGTGACCACTGGAGTCAACACAGACTGATGTACCCACAGACACCAAAACTTGCCCCCTGAGTTCTGAAGCAAGGGGCAAGGCTGGGCCCCTAGCTTGTCCTGCCCATTCCTCCAGGTGTTGATCTTGATTCCACTTAGAGAAGCTGAAGCTGTGCCTCCCTCCCCTGTCAAGCCAGTTCTTTCCTCTTCAGGTGGCTGTTCTGGCCCAGCCCCTTCCCATCCCCAAGGAGCCCTTCAGCGCGCCCTGTTGCTTCTGCTAGCCTACCTTTCCCTGCCAGGCCCTTGCTCAGGGCCATGGCATTTAACTAAGTGCACCTGTGATCTTGGCCAAAAAACCATTGCAACTCACAGTAAGAGACTGGGTTTCGGGGAAGGAGGGGCTAGGGACATTTTGGCACTGGCCTGCCCTATTGTCTCCCATCCTAGTCTGTCCTGGTCCCTGGCAACAGGAACCTGGGCAGCTTATCCTGCCCACAGGTAAGCCCCTGGGAGCATCCACAACTGGGGACCTGCTCAGTGCCCCCCCTGCCTTACAGCTACATGACAGTGCTGTTTTATTTGAACAACGTCACTGGTGGGGGCGAGACTGTTTTCCCTGTAGCAGATAACAGAACCTACGATGAAATGGTAAGGGTCAACTGGGCTATTACTCTTGTGGGCTGGCAGGGGCTTAGACAAGTGAAGTACACACCTCTCCAGGTCTAAGGATGTGGGCCCAAATTATTCCTTGGGCATATCTGGTTGGTTTCCCTTTGGTCACCCTTGGCTGGCCTGGCCATAGAGTGGGGACAGGTTGAACACCCCACCACCCTGCTGCCCACAGAGTCTGATTCAGGATGACGTGGACCTCCGTGACACACGGAGGCACTGTGACAAGGGAAACCTGCGTGTCAAGCCCCAACAGGGCACAGCAGTCTTCTGGTACAACTACCTGCCTGATGGGCAAGGTGAGGGCCTATGGCCAGGCCTGGGGGGGGTGCCCTGAGTACAGCTTCCCTTTACCCAGCCCCCGTCTGCCACAATGGAGGGCTGTTTCTGGCTGCTTTCCAAATAGTTTTCTGCTCCTGGTGCCTCCCAAAGGCCATCCTTAGTGACTTTAGCAGACTGCCCCAGGACCTGTACTGCTTATTGGGTTATATCCATCCCTATCATTCCCTGATGCCCCAGCCTTCCTACTCCCTGGGGCTTGGGACACATGTCCCTTGCTAACCCAGGATGGGAAGGGATATGGACAGGCCCAACAGCAAGAAAGCTGGTTTCAGAGGGCCAGTAGTGTTGACTATACATTAGTGGGCTGAGATGAGGAGCCTCCAAGGAAGCTTTAGGTCTGGGTGTTTGCTACACAAGGAATGCATAGCTGGACCCACCTTGGTCATGCTCTTGGTGCCTATGAGGCCAAGCTCTGGCCAGCCCAGCCTAGGATCTCACGTCACCCTCCTCTTCTAGGTTGGGTGGGTGACGTAGACGACTACTCGCTGCACGGGGGCTGCCTGGTCACGCGCGGCACCAAGTGGATTGCCAACAACTGGATTAATGTGGACCCCAGCCGAGCGCGGCAAGCGCTGTTCCAACAGGAGATGGCCCGCCTTGCCCGAGAAGGGGGCACCGACTCACAGCCCGAGTGGGCTCTGGACCGGGCCTACCGCGATGCGCGCGTGGAACTCTGAGGGAAGAGTTAGCCCCGGTTCCCAGCCGCGGGTCGCCAGTTGCCCAAGATCAGGGGTCCGGCTGTCCTTCTGTCCTGCTGCAGACTAAAGGTCTGGCCAATGTCTTGCCCCACCCCGCCAGCCGCGATACGGCGCAGTTCCTATATTCATGTTATTTATTGTGTACTGACTCCATCTGCCCCGTCA | CCCAGCAGACAGCTTCCCTGGTCTAAGTGAGATCTCCCTTGCCTTCCTCTTGTCCACCTGGAGTCATGCCGAAGCGCCTAAAATGGTAGTGCTGCTACCTGTGCTAACTGCTGGGGAGGGGTGGGCAGGGAAGCTGTCATGCAAGTGGTGCCCCCTCTGGTAATAACTCTCAGGAGGTTTCTGAGGTGTGGTCATCACCCTCATGCCCAAATTCTGGACCAAGAGAGGAAGATACAGCAGTTAGAAAGGACTTGGAACAGTGGCTTTGCGGCTGGTGAACCAGAGTGAAGAATCTGGCCGTGACCTGTGGCTGGATGGCTGCCACACTGCTATAGGCCCCAGAACAGAGGTGGTGACAGTCTCACAGCCCTTGAATGTCCCCCACCCTCAGAGGAATCTGGGCCAAAGAGTGGAAGGTGATGTCCTTGGGTCAGCCAGAATAACATGGAGCAAAGATACCAACTACTCTTCCAGAACCCCAAGAGGGTAGAACCCCTGCTTAATGGTTTGAGCAGGGACAGTGGAGAATGTTCTCATGAGAGGGGGTGGCCTGACTTTCGTTGCTAAGGTGGGCTGGTAACGCAGTAGGCAGGGCTGGCGAAGTAGGTTCCACCCAGGATGAAACCTGGGGTCATGAGGAACTCCCCGGGGGCTGGCCCTGCTTGCACCCTGGCGTATGTATGTAAGGCCCTGGATGAGGCCCAGCACTGCCTGCTCTCTCCTCACCCTCCACAGGCCGGAGAGTGGCCACCACTCTATATAGCCAGGCTGGAAGGCCAGGGTCCTGGCCATATGGCTCAAGCTTCCTTTGGAGAACCTTCTCTGGCCACTCTAATAGGGGGTGGGCCTCTTTCTTCTTAGGGCCAAATTAGGGCTTAAACTGAGAAAAGGAACTGCTCTGGGTCTTCCTGTAAGGCCTGATGTGACAGAAACCAGGTTCATCTGACCCAAAAGTCCAGGTGGGGGACAAGTGTACAAGGCCCCTCAGTGCCTGAGGTCAGGGGCTGCTGCTGCCTTTGGGGTAGGTAGGGAAGTGCAGCCTGCCACTGTTGCCTCCCAATATGGGCTTGGTGGGCATTGATGGTGGGTGCCCTGTGCAGGAGTGCTGAGTCTGCAGGAGTTCTCCAACATGGACCTTCGGGACTTCCACAAGTACATGAGGAGCCACAAGGCAGAGTCCAGTGAGCTGGTGCGGAACAGCCACCATACCTGGCTCTACCAGGGTGAGGGTGCCCACCACATCATGCGTGCCATCCGCCAGAGGTGAGCACCTGAAGCTGTTCTCACTGGAGCAGGGGGAGAAGACTGGGCAGGGCCTCCACAGAAGTCCTTGTCTGGGGCCAAGAGGACAGAATGGATTAACCCATTTGGGATTAAGTTCCATTTGTTAGACCAGGATTGGGACCCACTGAAAGACAGGCAATTAACAAAGGCAAATTAGCCCTCCTTGCAGGCACACAATGGGCAACTGGGGTTAGATAGAGATTGAGCACTTCTTTCTGATTAGATAAATGACCTCTTATCTTTGACCCCTTATCTGACCCCGTCACAGCAGGAAAAGGGTTTTTAAATAAACAACTTTCTTCCAGGGAGGAGGACCTCAGGACTCCCCGCCCCCTTTATTTAGTGGAAATGTCAACATTTCCACATAGCAGGTGTCTCTGTCTTTGGCATCTGAGGGAGAAGGATCATCATGAGTAACCCCCTCCTGCTCTTACAGGGCCAGTCTGAGATGGCTTAAGGGACTTCCAGGGGAGGTGGGTAGGGGCAAAGCTTGTGGCAGGCCTAGGGTCCACCTTGGCCAGCTCCTTCAGATCACCACCTTGCCTGGGGCTGCCCAGCCAAATGCCTGCTGCCCACCAGGGTGCTGCGCCTCACTCGCCTGTCGCCTGAGATCGTGGAGCTCAGCGAGCCGCTGCAGGTTGTTCGATATGGTGAGGGGGGCCACTACCATGCCCACGTGGACAGTGGGCCTGTGTACCCAGAGACCATCTGCTCCCATACCAAGCTGGTAGCCAACGAGTCTGTACCCTTCGAGACCTCCTGCCAGCAAGTATCTCCCAACTGGGGGCTGCCTTCAATCCTCAGACCAGGAACACCCATGACACAGGCACAGCCCTGCACTGTGGGCGTGCCCCTTGGCATGGGGCCAGGAGATCACTGGGTTATCCCGGTTAGTGATGCCCTCACCTCTCCCCACAAGTTGTTTACCCAATGGCTGGAAAGGGGTGGCTACTGGTCATCGTGACCACTGGAGTCAACACAGACTGATGTACCCACAGACACCAAAACTTGCCCCCTGAGTTCTGAAGCAAGGGGCAAGGCTGGGCCCCTAGCTTGTCCTGCCCATTCCTCCAGGTGTTGATCTTGATTCCACTTAGAGAAGCTGAAGCTGTGCCTCCCTCCCCTGTCAAGCCAGTTCTTTCCTCTTCAGGTGGCTGTTCTGGCCCAGCCCCTTCCCATCCCCAAGGAGCCCTTCAGCGCGCCCTGTTGCTTCTGCTAGCCTACCTTTCCCTGCCAGGCCCTTGCTCAGGGCCATGGCATTTAACTAAGTGCACCTGTGATCTTGGCCAAAAAACCATTGCAACTCACAGTAAGAGACTGGGTTTCGGGGAAGGAGGGGCTAGGGACATTTTGGCACTGGCCTGCCCTATTGTCTCCCATCCTAGTCTGTCCTGGTCCCTGGCAACAGGAACCTGGGCAGCTTATCCTGCCCACAGGTAAGCCCCTGGGAGCATCCACAACTGGGGACCTGCTCAGTGCCCCCCCTGCCTTACAGCTACATGACAGTGCTGTTTTATTTGAACAACGTCACTGGTGGGGGCGAGACTGTTTTCCCTGTAGCAGATAACAGAACCTACGATGAAATGGTAAGGGTCAACTGGGCTATTACTCTTGTGGGCTGGCAGGGGCTTAGACAAGTGAAGTACACACCTCTCCAGGTCTAAGGATGTGGGCCCAAATTATTCCTTGGGCATATCTGGTTGGTTTCCCTTTGGTCACCCTTGGCTGGCCTGGCCATAGAGTGGGGACAGGTTGAACACCCCACCACCCTGCTGCCCACAGAGTCTGATTCAGGATGACGTGGACCTCCGTGACACACGGAGGCACTGTGACAAGGGAAACCTGCGTGTCAAGCCCCAACAGGGCACAGCAGTCTTCTGGTACAACTACCTGCCTGATGGGCAAGGTGAGGGCCTATGGCCAGGCCTGGGGGGGGTGCCCTGAGTACAGCTTCCCTTTACCCAGCCCCCGTCTGCCACAATGGAGGGCTGTTTCTGGCTGCTTTCCAAATAGTTTTCTGCTCCTGGTGCCTCCCAAAGGCCATCCTTAGTGACTTTAGCAGACTGCCCCAGGACCTGTACTGCTTATTGGGTTATATCCATCCCTATCATTCCCTGATGCCCCAGCCTTCCTACTCCCTGGGGCTTGGGACACATGTCCCTTGCTAACCCAGGATGGGAAGGGATATGGACAGGCCCAACAGCAAGAAAGCTGGTTTCAGAGGGCCAGTAGTGTTGACTATACATTAGTGGGCTGAGATGAGGAGCCTCCAAGGAAGCTTTAGGTCTGGGTGTTTGCTACACAAGGAATGCATAGCTGGACCCACCTTGGTCATGCTCTTGGTGCCTATGAGGCCAAGCTCTGGCCAGCCCAGCCTAGGATCTCACGTCACCCTCCTCTTCTAGGTTGGGTGGGTGACGTAGACGACTACTCGCTGCACGGGGGCTGCCTGGTCACGCGCGGCACCAAGTGGATTGCCAACAACTGGATTAATGTGGACCCCAGCCGAGCGCGGCAAGCGCTGTTCCAACAGGAGATGGCCCGCCTTGCCCGAGAAGGGGGCACCGACTCACAGCCCGAGTGGGCTCTGGACCGGGCCTACCGCGATGCGCGCGTGGAACTCTGAGGGAAGAGTTAGCCCCGGTTCCCAGCCGCGGGTCGCCAGTTGCCCAAGATCAGGGGTCCGGCTGTCCTTCTGTCCTGCTGCAGACTAAAGGTCTGGCCAATGTCTTGCCCCACCCCGCCAGCCGCGATACGGCGCAGTTCCTATATTCATGTTATTTATTGTGTACTGACTCCATCTGCCCCGTCA |
Task1_train_6994 | The variant affects gene LOC129936729, NDUFAF3 (ATAC-STARR-seq lymphoblastoid silent region 14349| NADH:ubiquinone oxidoreductase complex assembly factor 3), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | TTGGCAAGGCCCCTTTCTGGGCCAGGGCTGAGGCCCTGCTGGGAGGCGCCGAAAGAGCACTGGGCGGACACGACATTCCCGATGGCTTCTCGGGTGCCCACTCAACGGGAGTGATCGTGTCATTCCAAAGCGCTTTCCATTCTGAAGGTGCATGACCTGGAGACAACTGCTTAGCAGGGTTGGGAACCCTCAGTCAAACTGAGGACTTCAGATACTCTCATCCACGAAGACGGTTGGGGTGGTTTTTCCCCAGGAAGTAAGAGGGCTATCTTTAGCGAGATGCGGGCTGAGGCAGCCCTGGGGGAGTCACTACCATTGCAGCCCTACCCAGAGGTCCTGGGTCCACCCTCCCTCGCCAATCCTCCCCAGGGTTCCAGAGATGGCCACCAGCCTCGGCTCTCCCACGTCTACACCCATCACCTCCAGCCTGAGGGCGCAACTGAGAGGAACTGAGACCCAAGCAGCTCAGTAAAGTATGTCTGGGGGTCAGGGGCACCCCATCTGGGCCAGGGCGCTGCTCAGGCAGGAGAGCAGGGGACGAAATCCAAGCGCAGCTGGAATGCTCTGGAGACAACAGCTGCTTTTGGGATTCCGTTGCCCGCTGTCCAGCCGTTGGCGGGGGGCGGGGGAGCTCCTGCCCCCAGGTCACTCGCCCTGGGGCCACATCAGAACCCGCCCATCCCCAGTCCCAGGAGGAAGACCCGGGAGTAGGTTGTGAAACGGAGTCTAGAGGGAACAAGACGCTCACCTGGGCCACAGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCCCCAGGAGACCCACCACCAGGCTCCCACTGTGCCGAGCTTCCCGCTCGCCCGGCCCCGCGGGTAGCGAAAGCGACAATGTTCCCCTGAGGCCACGACAGAGCCGGCGTGCCGAGATGCCCAAACCCCGCGCGGGGGCCAGCGACTCTCGCGCCAGTAGGCCCTTGACTTGGATCAAGACGGGGGACGGGGGACTCCCAGGACGCGAGCAGAGTGAACGAGGACAAGGTGATGCTCCACGCGCTTCTACTTCAAGTCTGGTCCGGTTCGGCCTGGTCTGGGCCAGCCGAACAGCCACCCAAACACTATCACAGCTTGCCCTTCCGCTTGCTCTGGCTGCCTGCAGACTTGGAGCCATTTTAAGGAGAAACCACCTGGCCACGCCCCCTAGAGAACCCGAGAAGCCAATCCACGCTCGGCCACGCCCCTCTCCGCGCGCTGCGGAGAGGCCAACGGTCGCGCGGGTGACGGTTAGGGCGGGGCGTGCTTCCGCGTCTAGCCGGAGAAACTTGAGCCGGCTGCCCCGCCCACGGTGCCCGAAGCCCCAAAGGCTGGAATTAGGGGCTAGAAGTCTGGCACCCACCGCCTGGCCAGGTGTTCGGGACGCGACCAGGTGGGCGGTCGCCCCGCCCCGGGAGCGCGGCTTAATAGCTGAGAGCCCGGGGGCCAGGCCGCGGCTGCGGCCCAGGCAACGCCCTGAGGGTGGCCACGCTGCCAGGTGTTCCACTCCCCCGGGACTATGGGCAAGGGCCCGGGGCGGGGAGGGCGGCAGGTGCTGACACTGGAGCTGCGCCGGAGGTCGGGGAACTCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGTCGAGCTGTGCGGTGCCCTCCGGGACGCAGGGGGCGCTGCAGCCACGCTGGGTCAGGCTCCGCAGGGCCCTCCCAACCCGGGGACTAACGGCGCCGGTGACGACTTCGCCGCGCGTTGGTCAGCCATGGCCACCGCTCTCGCGCTACGTAGCTTGTACCGAGCGCGACCCTCGCTGCGCTGTCCGCCCGTTGAGCTTCCCTGGTGAGCTTGGACCCCGCGCCCTCGACCATCCAGCCCCCTAGGGCCGGCGACTGCCAGCCCAGCACCTTCCGGCCTCTCGGGCTGCCCGGCCCGGCCCCGCGCCCCTGACCCTTTCCCTCCGCAGGGCCCCGCGGCGAGGGCATCGGCTCTCGCCGGCGGATGACGAGCTGTATCAGCGGACGCGCATCTCTCTGCTGCAACGCGAGGCCGCTCAGGCAATGTACATCGACAGCTACAACAGCCGCGGCTTCATGATAAACGGAAACCGCGTGCTCGGCCCCTGCGCTCTGCTCCCGCACTCGGTGGTGCAGTGGAACGTGAGTCCTGGCCCGCAGTGTGGAAACTGAGGCCCAGAGTCACAGGCCCTCACCCTGCTTGGTCCCTGCAAACTTGGCTTTCCTCTGTCTCCTCCTGCAGTGGATGGAGATGGGGAGAGGCTGCGTGGATTTGTCGTATTAAATGTGCCTCCTCCCTGCACAGGTGGGATCCCACCAGGACATCACCGAAGACAGCTTTTCCCTCTTCTGGTTGCTGGAGCCCCGGATAGGTACTGGGGAAGGGGAGGGAGAACAGAGGTGTTCTGGGCCCCAGAAGGCGACCCCCACTGCAGCCTCTCAACAGAACTGTAGACTAGCCACACCCACCCTTCCCTAGAGATCGTGGTGGTGGGGACTGGAGACCGGACCGAGAGGCTGCAGTCCCAGGTGCTTCAAGCCATGAGGCAGCGGGGCATTGCTGTGGAAGTGCAGGACACGGTGAGTCCCGGGACTGGGGCATGCTGCGGGGAGCACAGGCCTGGCGCTAGACAGGCTGATGCTGGCCTTTTCTTTGCAGCCCAATGCCTGTGCCACCTTCAACTTCCTGTGTCATGAAGGCCGAGTAACTGGAGCTGCTCTCATCCCTCCACCAGGAGGGACTTCACTTACATCTTTGGGCCAAGCTGCTCAATGAACCGCCAGGAACTGACCTGCTGACTGCACTCTGCCAGGCTTCCCAATGCTTTCACTCTTATCTACCCTTTGGCACTTATCTTGCTTATCAACATAATAATTTATACACTTCTCCCATTTTGTATCAGGTGTGTTGCTGGCCAGGAGCTGATGGCTCACTGGGCTCTTGGAGGGGAATGTGAAGAAACCAAGGAGTCACTTTTTCATCTAGATTACTTAGGATTCCTTGACTTTTCAGAAGTCGGGAAGCAGTATGTTTGCCTGTTGTAGACCTACTTGCTCACATGCAGATTTGAGAGGACCTCAACGGCTTTTCTCACAAAATCGCTGATTGTTTTTCTTTTTTTGAGATGGAGTCTCGCTGTCGCCCGGGCTGCAGTGCAGTGGCGTGATCTTGGCCCACTACAACCTCCACCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGAATTAGAGGCCCCTACCACTACACTGGGCTTTTTTTTTTTTTTTTTTTTCTGGAGATGAGTCTTGCTCTTTCGCCAGGGTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAGAGGTATGCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGATCTCAAGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAATGTGCCTGGCCGAGAGAGATTCAAGTTAGGGAATATATATGTGTGTTGACCTGGTCCTATATGGCCAAGCTATGGGCTAGCAGGATGCCCTGTGTATGCCAGTCCCAGGGCTTGTTCTTTGACCCCTTGGGAGCCAGAGTCAGATGCTCAGTGTGAGACTGAAACCCCAAGAGCCATAGCTATAGCTATAGTCAGCTGTTTTGTGAGCAGCCTCAGGAGGAACTTTTTGGACCTGGAACTACCCGC | TTGGCAAGGCCCCTTTCTGGGCCAGGGCTGAGGCCCTGCTGGGAGGCGCCGAAAGAGCACTGGGCGGACACGACATTCCCGATGGCTTCTCGGGTGCCCACTCAACGGGAGTGATCGTGTCATTCCAAAGCGCTTTCCATTCTGAAGGTGCATGACCTGGAGACAACTGCTTAGCAGGGTTGGGAACCCTCAGTCAAACTGAGGACTTCAGATACTCTCATCCACGAAGACGGTTGGGGTGGTTTTTCCCCAGGAAGTAAGAGGGCTATCTTTAGCGAGATGCGGGCTGAGGCAGCCCTGGGGGAGTCACTACCATTGCAGCCCTACCCAGAGGTCCTGGGTCCACCCTCCCTCGCCAATCCTCCCCAGGGTTCCAGAGATGGCCACCAGCCTCGGCTCTCCCACGTCTACACCCATCACCTCCAGCCTGAGGGCGCAACTGAGAGGAACTGAGACCCAAGCAGCTCAGTAAAGTATGTCTGGGGGTCAGGGGCACCCCATCTGGGCCAGGGCGCTGCTCAGGCAGGAGAGCAGGGGACGAAATCCAAGCGCAGCTGGAATGCTCTGGAGACAACAGCTGCTTTTGGGATTCCGTTGCCCGCTGTCCAGCCGTTGGCGGGGGGCGGGGGAGCTCCTGCCCCCAGGTCACTCGCCCTGGGGCCACATCAGAACCCGCCCATCCCCAGTCCCAGGAGGAAGACCCGGGAGTAGGTTGTGAAACGGAGTCTAGAGGGAACAAGACGCTCACCTGGGCCACAGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCCCCAGGAGACCCACCACCAGGCTCCCACTGTGCCGAGCTTCCCGCTCGCCCGGCCCCGCGGGTAGCGAAAGCGACAATGTTCCCCTGAGGCCACGACAGAGCCGGCGTGCCGAGATGCCCAAACCCCGCGCGGGGGCCAGCGACTCTCGCGCCAGTAGGCCCTTGACTTGGATCAAGACGGGGGACGGGGGACTCCCAGGACGCGAGCAGAGTGAACGAGGACAAGGTGATGCTCCACGCGCTTCTACTTCAAGTCTGGTCCGGTTCGGCCTGGTCTGGGCCAGCCGAACAGCCACCCAAACACTATCACAGCTTGCCCTTCCGCTTGCTCTGGCTGCCTGCAGACTTGGAGCCATTTTAAGGAGAAACCACCTGGCCACGCCCCCTAGAGAACCCGAGAAGCCAATCCACGCTCGGCCACGCCCCTCTCCGCGCGCTGCGGAGAGGCCAACGGTCGCGCGGGTGACGGTTAGGGCGGGGCGTGCTTCCGCGTCTAGCCGGAGAAACTTGAGCCGGCTGCCCCGCCCACGGTGCCCGAAGCCCCAAAGGCTGGAATTAGGGGCTAGAAGTCTGGCACCCACCGCCTGGCCAGGTGTTCGGGACGCGACCAGGTGGGCGGTCGCCCCGCCCCGGGAGCGCGGCTTAATAGCTGAGAGCCCGGGGGCCAGGCCGCGGCTGCGGCCCAGGCAACGCCCTGAGGGTGGCCACGCTGCCAGGTGTTCCACTCCCCCGGGACTATGGGCAAGGGCCCGGGGCGGGGAGGGCGGCAGGTGCTGACACTGGAGCTGCGCCGGAGGTCGGGGAACTCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGTCGAGCTGTGCGGTGCCCTCCGGGACGCAGGGGGCGCTGCAGCCACGCTGGGTCAGGCTCCGCAGGGCCCTCCCAACCCGGGGACTAACGGCGCCGGTGACGACTTCGCCGCGCGTTGGTCAGCCACGGCCACCGCTCTCGCGCTACGTAGCTTGTACCGAGCGCGACCCTCGCTGCGCTGTCCGCCCGTTGAGCTTCCCTGGTGAGCTTGGACCCCGCGCCCTCGACCATCCAGCCCCCTAGGGCCGGCGACTGCCAGCCCAGCACCTTCCGGCCTCTCGGGCTGCCCGGCCCGGCCCCGCGCCCCTGACCCTTTCCCTCCGCAGGGCCCCGCGGCGAGGGCATCGGCTCTCGCCGGCGGATGACGAGCTGTATCAGCGGACGCGCATCTCTCTGCTGCAACGCGAGGCCGCTCAGGCAATGTACATCGACAGCTACAACAGCCGCGGCTTCATGATAAACGGAAACCGCGTGCTCGGCCCCTGCGCTCTGCTCCCGCACTCGGTGGTGCAGTGGAACGTGAGTCCTGGCCCGCAGTGTGGAAACTGAGGCCCAGAGTCACAGGCCCTCACCCTGCTTGGTCCCTGCAAACTTGGCTTTCCTCTGTCTCCTCCTGCAGTGGATGGAGATGGGGAGAGGCTGCGTGGATTTGTCGTATTAAATGTGCCTCCTCCCTGCACAGGTGGGATCCCACCAGGACATCACCGAAGACAGCTTTTCCCTCTTCTGGTTGCTGGAGCCCCGGATAGGTACTGGGGAAGGGGAGGGAGAACAGAGGTGTTCTGGGCCCCAGAAGGCGACCCCCACTGCAGCCTCTCAACAGAACTGTAGACTAGCCACACCCACCCTTCCCTAGAGATCGTGGTGGTGGGGACTGGAGACCGGACCGAGAGGCTGCAGTCCCAGGTGCTTCAAGCCATGAGGCAGCGGGGCATTGCTGTGGAAGTGCAGGACACGGTGAGTCCCGGGACTGGGGCATGCTGCGGGGAGCACAGGCCTGGCGCTAGACAGGCTGATGCTGGCCTTTTCTTTGCAGCCCAATGCCTGTGCCACCTTCAACTTCCTGTGTCATGAAGGCCGAGTAACTGGAGCTGCTCTCATCCCTCCACCAGGAGGGACTTCACTTACATCTTTGGGCCAAGCTGCTCAATGAACCGCCAGGAACTGACCTGCTGACTGCACTCTGCCAGGCTTCCCAATGCTTTCACTCTTATCTACCCTTTGGCACTTATCTTGCTTATCAACATAATAATTTATACACTTCTCCCATTTTGTATCAGGTGTGTTGCTGGCCAGGAGCTGATGGCTCACTGGGCTCTTGGAGGGGAATGTGAAGAAACCAAGGAGTCACTTTTTCATCTAGATTACTTAGGATTCCTTGACTTTTCAGAAGTCGGGAAGCAGTATGTTTGCCTGTTGTAGACCTACTTGCTCACATGCAGATTTGAGAGGACCTCAACGGCTTTTCTCACAAAATCGCTGATTGTTTTTCTTTTTTTGAGATGGAGTCTCGCTGTCGCCCGGGCTGCAGTGCAGTGGCGTGATCTTGGCCCACTACAACCTCCACCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGAATTAGAGGCCCCTACCACTACACTGGGCTTTTTTTTTTTTTTTTTTTTCTGGAGATGAGTCTTGCTCTTTCGCCAGGGTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAGAGGTATGCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGATCTCAAGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAATGTGCCTGGCCGAGAGAGATTCAAGTTAGGGAATATATATGTGTGTTGACCTGGTCCTATATGGCCAAGCTATGGGCTAGCAGGATGCCCTGTGTATGCCAGTCCCAGGGCTTGTTCTTTGACCCCTTGGGAGCCAGAGTCAGATGCTCAGTGTGAGACTGAAACCCCAAGAGCCATAGCTATAGCTATAGTCAGCTGTTTTGTGAGCAGCCTCAGGAGGAACTTTTTGGACCTGGAACTACCCGC |
Task1_train_6995 | Gene LOC129936731, NDUFAF3 (ATAC-STARR-seq lymphoblastoid silent region 14351| NADH:ubiquinone oxidoreductase complex assembly factor 3) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 18 | CTCGCCAATCCTCCCCAGGGTTCCAGAGATGGCCACCAGCCTCGGCTCTCCCACGTCTACACCCATCACCTCCAGCCTGAGGGCGCAACTGAGAGGAACTGAGACCCAAGCAGCTCAGTAAAGTATGTCTGGGGGTCAGGGGCACCCCATCTGGGCCAGGGCGCTGCTCAGGCAGGAGAGCAGGGGACGAAATCCAAGCGCAGCTGGAATGCTCTGGAGACAACAGCTGCTTTTGGGATTCCGTTGCCCGCTGTCCAGCCGTTGGCGGGGGGCGGGGGAGCTCCTGCCCCCAGGTCACTCGCCCTGGGGCCACATCAGAACCCGCCCATCCCCAGTCCCAGGAGGAAGACCCGGGAGTAGGTTGTGAAACGGAGTCTAGAGGGAACAAGACGCTCACCTGGGCCACAGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCCCCAGGAGACCCACCACCAGGCTCCCACTGTGCCGAGCTTCCCGCTCGCCCGGCCCCGCGGGTAGCGAAAGCGACAATGTTCCCCTGAGGCCACGACAGAGCCGGCGTGCCGAGATGCCCAAACCCCGCGCGGGGGCCAGCGACTCTCGCGCCAGTAGGCCCTTGACTTGGATCAAGACGGGGGACGGGGGACTCCCAGGACGCGAGCAGAGTGAACGAGGACAAGGTGATGCTCCACGCGCTTCTACTTCAAGTCTGGTCCGGTTCGGCCTGGTCTGGGCCAGCCGAACAGCCACCCAAACACTATCACAGCTTGCCCTTCCGCTTGCTCTGGCTGCCTGCAGACTTGGAGCCATTTTAAGGAGAAACCACCTGGCCACGCCCCCTAGAGAACCCGAGAAGCCAATCCACGCTCGGCCACGCCCCTCTCCGCGCGCTGCGGAGAGGCCAACGGTCGCGCGGGTGACGGTTAGGGCGGGGCGTGCTTCCGCGTCTAGCCGGAGAAACTTGAGCCGGCTGCCCCGCCCACGGTGCCCGAAGCCCCAAAGGCTGGAATTAGGGGCTAGAAGTCTGGCACCCACCGCCTGGCCAGGTGTTCGGGACGCGACCAGGTGGGCGGTCGCCCCGCCCCGGGAGCGCGGCTTAATAGCTGAGAGCCCGGGGGCCAGGCCGCGGCTGCGGCCCAGGCAACGCCCTGAGGGTGGCCACGCTGCCAGGTGTTCCACTCCCCCGGGACTATGGGCAAGGGCCCGGGGCGGGGAGGGCGGCAGGTGCTGACACTGGAGCTGCGCCGGAGGTCGGGGAACTCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGTCGAGCTGTGCGGTGCCCTCCGGGACGCAGGGGGCGCTGCAGCCACGCTGGGTCAGGCTCCGCAGGGCCCTCCCAACCCGGGGACTAACGGCGCCGGTGACGACTTCGCCGCGCGTTGGTCAGCCATGGCCACCGCTCTCGCGCTACGTAGCTTGTACCGAGCGCGACCCTCGCTGCGCTGTCCGCCCGTTGAGCTTCCCTGGTGAGCTTGGACCCCGCGCCCTCGACCATCCAGCCCCCTAGGGCCGGCGACTGCCAGCCCAGCACCTTCCGGCCTCTCGGGCTGCCCGGCCCGGCCCCGCGCCCCTGACCCTTTCCCTCCGCAGGGCCCCGCGGCGAGGGCATCGGCTCTCGCCGGCGGATGACGAGCTGTATCAGCGGACGCGCATCTCTCTGCTGCAACGCGAGGCCGCTCAGGCAATGTACATCGACAGCTACAACAGCCGCGGCTTCATGATAAACGGAAACCGCGTGCTCGGCCCCTGCGCTCTGCTCCCGCACTCGGTGGTGCAGTGGAACGTGAGTCCTGGCCCGCAGTGTGGAAACTGAGGCCCAGAGTCACAGGCCCTCACCCTGCTTGGTCCCTGCAAACTTGGCTTTCCTCTGTCTCCTCCTGCAGTGGATGGAGATGGGGAGAGGCTGCGTGGATTTGTCGTATTAAATGTGCCTCCTCCCTGCACAGGTGGGATCCCACCAGGACATCACCGAAGACAGCTTTTCCCTCTTCTGGTTGCTGGAGCCCCGGATAGGTACTGGGGAAGGGGAGGGAGAACAGAGGTGTTCTGGGCCCCAGAAGGCGACCCCCACTGCAGCCTCTCAACAGAACTGTAGACTAGCCACACCCACCCTTCCCTAGAGATCGTGGTGGTGGGGACTGGAGACCGGACCGAGAGGCTGCAGTCCCAGGTGCTTCAAGCCATGAGGCAGCGGGGCATTGCTGTGGAAGTGCAGGACACGGTGAGTCCCGGGACTGGGGCATGCTGCGGGGAGCACAGGCCTGGCGCTAGACAGGCTGATGCTGGCCTTTTCTTTGCAGCCCAATGCCTGTGCCACCTTCAACTTCCTGTGTCATGAAGGCCGAGTAACTGGAGCTGCTCTCATCCCTCCACCAGGAGGGACTTCACTTACATCTTTGGGCCAAGCTGCTCAATGAACCGCCAGGAACTGACCTGCTGACTGCACTCTGCCAGGCTTCCCAATGCTTTCACTCTTATCTACCCTTTGGCACTTATCTTGCTTATCAACATAATAATTTATACACTTCTCCCATTTTGTATCAGGTGTGTTGCTGGCCAGGAGCTGATGGCTCACTGGGCTCTTGGAGGGGAATGTGAAGAAACCAAGGAGTCACTTTTTCATCTAGATTACTTAGGATTCCTTGACTTTTCAGAAGTCGGGAAGCAGTATGTTTGCCTGTTGTAGACCTACTTGCTCACATGCAGATTTGAGAGGACCTCAACGGCTTTTCTCACAAAATCGCTGATTGTTTTTCTTTTTTTGAGATGGAGTCTCGCTGTCGCCCGGGCTGCAGTGCAGTGGCGTGATCTTGGCCCACTACAACCTCCACCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGAATTAGAGGCCCCTACCACTACACTGGGCTTTTTTTTTTTTTTTTTTTTCTGGAGATGAGTCTTGCTCTTTCGCCAGGGTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAGAGGTATGCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGATCTCAAGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAATGTGCCTGGCCGAGAGAGATTCAAGTTAGGGAATATATATGTGTGTTGACCTGGTCCTATATGGCCAAGCTATGGGCTAGCAGGATGCCCTGTGTATGCCAGTCCCAGGGCTTGTTCTTTGACCCCTTGGGAGCCAGAGTCAGATGCTCAGTGTGAGACTGAAACCCCAAGAGCCATAGCTATAGCTATAGTCAGCTGTTTTGTGAGCAGCCTCAGGAGGAACTTTTTGGACCTGGAACTACCCGCTTCCAGGTCCATGGAGCACATTTATCTCGGGGCCTGAGGCTCCCCCTGGAAATGAGGGTGCTGTTTTTGTGTGCATCTGTGGTAGTGGCAGCTACAGAGCCCCACCTGTCTGTTGAAAGATCAGGCATCACTTTTTTCTTTCTAAACTTTTATTGAAAAAAAAACCGAGGAGGTGTGCTGGATCCCTTTTCAGAAAAGCCGCTTCTCATACCTGCAGGCAGAAGGACCACCTGTGAGGTGAGGGCAGGAGAAAGGAGGCATGAGGTATGGCAGAGGCCCCACCAAGGACAGGGTGACTTACGAATGGAGGCTATGGACGCCACCTTCCACCTGGGCTGAGGACGTTCTCTT | CTCGCCAATCCTCCCCAGGGTTCCAGAGATGGCCACCAGCCTCGGCTCTCCCACGTCTACACCCATCACCTCCAGCCTGAGGGCGCAACTGAGAGGAACTGAGACCCAAGCAGCTCAGTAAAGTATGTCTGGGGGTCAGGGGCACCCCATCTGGGCCAGGGCGCTGCTCAGGCAGGAGAGCAGGGGACGAAATCCAAGCGCAGCTGGAATGCTCTGGAGACAACAGCTGCTTTTGGGATTCCGTTGCCCGCTGTCCAGCCGTTGGCGGGGGGCGGGGGAGCTCCTGCCCCCAGGTCACTCGCCCTGGGGCCACATCAGAACCCGCCCATCCCCAGTCCCAGGAGGAAGACCCGGGAGTAGGTTGTGAAACGGAGTCTAGAGGGAACAAGACGCTCACCTGGGCCACAGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCCCCAGGAGACCCACCACCAGGCTCCCACTGTGCCGAGCTTCCCGCTCGCCCGGCCCCGCGGGTAGCGAAAGCGACAATGTTCCCCTGAGGCCACGACAGAGCCGGCGTGCCGAGATGCCCAAACCCCGCGCGGGGGCCAGCGACTCTCGCGCCAGTAGGCCCTTGACTTGGATCAAGACGGGGGACGGGGGACTCCCAGGACGCGAGCAGAGTGAACGAGGACAAGGTGATGCTCCACGCGCTTCTACTTCAAGTCTGGTCCGGTTCGGCCTGGTCTGGGCCAGCCGAACAGCCACCCAAACACTATCACAGCTTGCCCTTCCGCTTGCTCTGGCTGCCTGCAGACTTGGAGCCATTTTAAGGAGAAACCACCTGGCCACGCCCCCTAGAGAACCCGAGAAGCCAATCCACGCTCGGCCACGCCCCTCTCCGCGCGCTGCGGAGAGGCCAACGGTCGCGCGGGTGACGGTTAGGGCGGGGCGTGCTTCCGCGTCTAGCCGGAGAAACTTGAGCCGGCTGCCCCGCCCACGGTGCCCGAAGCCCCAAAGGCTGGAATTAGGGGCTAGAAGTCTGGCACCCACCGCCTGGCCAGGTGTTCGGGACGCGACCAGGTGGGCGGTCGCCCCGCCCCGGGAGCGCGGCTTAATAGCTGAGAGCCCGGGGGCCAGGCCGCGGCTGCGGCCCAGGCAACGCCCTGAGGGTGGCCACGCTGCCAGGTGTTCCACTCCCCCGGGACTATGGGCAAGGGCCCGGGGCGGGGAGGGCGGCAGGTGCTGACACTGGAGCTGCGCCGGAGGTCGGGGAACTCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGTCGAGCTGTGCGGTGCCCTCCGGGACGCAGGGGGCGCTGCAGCCACGCTGGGTCAGGCTCCGCAGGGCCCTCCCAACCCGGGGACTAACGGCGCCGGTGACGACTTCGCCGCGCGTTGGTCAGCCATGGCCACCGCTCTCGCGCTACGTAGCTTGTACCGAGCGCGACCCTCGCTGCGCTGTCCGCCCGTTGAGCTTCCCTGGTGAGCTTGGACCCCGCGCCCTCGACCATCCAGCCCCCTAGGGCCGGCGACTGCCAGCCCAGCACCTTCCGGCCTCTCGGGCTGCCCGGCCCGGCCCCGCGCCCCTGACCCTTTCCCTCCGCAGGGCCCCGCGGCGAGGGCATCGGCTCTCGCCGGCGGATGACGAGCTGTATCAGCGGACGCGCATCTCTCTGCTGCAACGCGAGGCCGCTCAGGCAATGTACATCGACAGCTACAACAGCCGCGGCTTCATGATAAACGGAAACCGCGTGCTCCGCCCCTGCGCTCTGCTCCCGCACTCGGTGGTGCAGTGGAACGTGAGTCCTGGCCCGCAGTGTGGAAACTGAGGCCCAGAGTCACAGGCCCTCACCCTGCTTGGTCCCTGCAAACTTGGCTTTCCTCTGTCTCCTCCTGCAGTGGATGGAGATGGGGAGAGGCTGCGTGGATTTGTCGTATTAAATGTGCCTCCTCCCTGCACAGGTGGGATCCCACCAGGACATCACCGAAGACAGCTTTTCCCTCTTCTGGTTGCTGGAGCCCCGGATAGGTACTGGGGAAGGGGAGGGAGAACAGAGGTGTTCTGGGCCCCAGAAGGCGACCCCCACTGCAGCCTCTCAACAGAACTGTAGACTAGCCACACCCACCCTTCCCTAGAGATCGTGGTGGTGGGGACTGGAGACCGGACCGAGAGGCTGCAGTCCCAGGTGCTTCAAGCCATGAGGCAGCGGGGCATTGCTGTGGAAGTGCAGGACACGGTGAGTCCCGGGACTGGGGCATGCTGCGGGGAGCACAGGCCTGGCGCTAGACAGGCTGATGCTGGCCTTTTCTTTGCAGCCCAATGCCTGTGCCACCTTCAACTTCCTGTGTCATGAAGGCCGAGTAACTGGAGCTGCTCTCATCCCTCCACCAGGAGGGACTTCACTTACATCTTTGGGCCAAGCTGCTCAATGAACCGCCAGGAACTGACCTGCTGACTGCACTCTGCCAGGCTTCCCAATGCTTTCACTCTTATCTACCCTTTGGCACTTATCTTGCTTATCAACATAATAATTTATACACTTCTCCCATTTTGTATCAGGTGTGTTGCTGGCCAGGAGCTGATGGCTCACTGGGCTCTTGGAGGGGAATGTGAAGAAACCAAGGAGTCACTTTTTCATCTAGATTACTTAGGATTCCTTGACTTTTCAGAAGTCGGGAAGCAGTATGTTTGCCTGTTGTAGACCTACTTGCTCACATGCAGATTTGAGAGGACCTCAACGGCTTTTCTCACAAAATCGCTGATTGTTTTTCTTTTTTTGAGATGGAGTCTCGCTGTCGCCCGGGCTGCAGTGCAGTGGCGTGATCTTGGCCCACTACAACCTCCACCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGAATTAGAGGCCCCTACCACTACACTGGGCTTTTTTTTTTTTTTTTTTTTCTGGAGATGAGTCTTGCTCTTTCGCCAGGGTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAGAGGTATGCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGATCTCAAGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAATGTGCCTGGCCGAGAGAGATTCAAGTTAGGGAATATATATGTGTGTTGACCTGGTCCTATATGGCCAAGCTATGGGCTAGCAGGATGCCCTGTGTATGCCAGTCCCAGGGCTTGTTCTTTGACCCCTTGGGAGCCAGAGTCAGATGCTCAGTGTGAGACTGAAACCCCAAGAGCCATAGCTATAGCTATAGTCAGCTGTTTTGTGAGCAGCCTCAGGAGGAACTTTTTGGACCTGGAACTACCCGCTTCCAGGTCCATGGAGCACATTTATCTCGGGGCCTGAGGCTCCCCCTGGAAATGAGGGTGCTGTTTTTGTGTGCATCTGTGGTAGTGGCAGCTACAGAGCCCCACCTGTCTGTTGAAAGATCAGGCATCACTTTTTTCTTTCTAAACTTTTATTGAAAAAAAAACCGAGGAGGTGTGCTGGATCCCTTTTCAGAAAAGCCGCTTCTCATACCTGCAGGCAGAAGGACCACCTGTGAGGTGAGGGCAGGAGAAAGGAGGCATGAGGTATGGCAGAGGCCCCACCAAGGACAGGGTGACTTACGAATGGAGGCTATGGACGCCACCTTCCACCTGGGCTGAGGACGTTCTCTT |
Task1_train_6996 | A sequence alteration has been identified in NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 18 | AGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCCCCAGGAGACCCACCACCAGGCTCCCACTGTGCCGAGCTTCCCGCTCGCCCGGCCCCGCGGGTAGCGAAAGCGACAATGTTCCCCTGAGGCCACGACAGAGCCGGCGTGCCGAGATGCCCAAACCCCGCGCGGGGGCCAGCGACTCTCGCGCCAGTAGGCCCTTGACTTGGATCAAGACGGGGGACGGGGGACTCCCAGGACGCGAGCAGAGTGAACGAGGACAAGGTGATGCTCCACGCGCTTCTACTTCAAGTCTGGTCCGGTTCGGCCTGGTCTGGGCCAGCCGAACAGCCACCCAAACACTATCACAGCTTGCCCTTCCGCTTGCTCTGGCTGCCTGCAGACTTGGAGCCATTTTAAGGAGAAACCACCTGGCCACGCCCCCTAGAGAACCCGAGAAGCCAATCCACGCTCGGCCACGCCCCTCTCCGCGCGCTGCGGAGAGGCCAACGGTCGCGCGGGTGACGGTTAGGGCGGGGCGTGCTTCCGCGTCTAGCCGGAGAAACTTGAGCCGGCTGCCCCGCCCACGGTGCCCGAAGCCCCAAAGGCTGGAATTAGGGGCTAGAAGTCTGGCACCCACCGCCTGGCCAGGTGTTCGGGACGCGACCAGGTGGGCGGTCGCCCCGCCCCGGGAGCGCGGCTTAATAGCTGAGAGCCCGGGGGCCAGGCCGCGGCTGCGGCCCAGGCAACGCCCTGAGGGTGGCCACGCTGCCAGGTGTTCCACTCCCCCGGGACTATGGGCAAGGGCCCGGGGCGGGGAGGGCGGCAGGTGCTGACACTGGAGCTGCGCCGGAGGTCGGGGAACTCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGTCGAGCTGTGCGGTGCCCTCCGGGACGCAGGGGGCGCTGCAGCCACGCTGGGTCAGGCTCCGCAGGGCCCTCCCAACCCGGGGACTAACGGCGCCGGTGACGACTTCGCCGCGCGTTGGTCAGCCATGGCCACCGCTCTCGCGCTACGTAGCTTGTACCGAGCGCGACCCTCGCTGCGCTGTCCGCCCGTTGAGCTTCCCTGGTGAGCTTGGACCCCGCGCCCTCGACCATCCAGCCCCCTAGGGCCGGCGACTGCCAGCCCAGCACCTTCCGGCCTCTCGGGCTGCCCGGCCCGGCCCCGCGCCCCTGACCCTTTCCCTCCGCAGGGCCCCGCGGCGAGGGCATCGGCTCTCGCCGGCGGATGACGAGCTGTATCAGCGGACGCGCATCTCTCTGCTGCAACGCGAGGCCGCTCAGGCAATGTACATCGACAGCTACAACAGCCGCGGCTTCATGATAAACGGAAACCGCGTGCTCGGCCCCTGCGCTCTGCTCCCGCACTCGGTGGTGCAGTGGAACGTGAGTCCTGGCCCGCAGTGTGGAAACTGAGGCCCAGAGTCACAGGCCCTCACCCTGCTTGGTCCCTGCAAACTTGGCTTTCCTCTGTCTCCTCCTGCAGTGGATGGAGATGGGGAGAGGCTGCGTGGATTTGTCGTATTAAATGTGCCTCCTCCCTGCACAGGTGGGATCCCACCAGGACATCACCGAAGACAGCTTTTCCCTCTTCTGGTTGCTGGAGCCCCGGATAGGTACTGGGGAAGGGGAGGGAGAACAGAGGTGTTCTGGGCCCCAGAAGGCGACCCCCACTGCAGCCTCTCAACAGAACTGTAGACTAGCCACACCCACCCTTCCCTAGAGATCGTGGTGGTGGGGACTGGAGACCGGACCGAGAGGCTGCAGTCCCAGGTGCTTCAAGCCATGAGGCAGCGGGGCATTGCTGTGGAAGTGCAGGACACGGTGAGTCCCGGGACTGGGGCATGCTGCGGGGAGCACAGGCCTGGCGCTAGACAGGCTGATGCTGGCCTTTTCTTTGCAGCCCAATGCCTGTGCCACCTTCAACTTCCTGTGTCATGAAGGCCGAGTAACTGGAGCTGCTCTCATCCCTCCACCAGGAGGGACTTCACTTACATCTTTGGGCCAAGCTGCTCAATGAACCGCCAGGAACTGACCTGCTGACTGCACTCTGCCAGGCTTCCCAATGCTTTCACTCTTATCTACCCTTTGGCACTTATCTTGCTTATCAACATAATAATTTATACACTTCTCCCATTTTGTATCAGGTGTGTTGCTGGCCAGGAGCTGATGGCTCACTGGGCTCTTGGAGGGGAATGTGAAGAAACCAAGGAGTCACTTTTTCATCTAGATTACTTAGGATTCCTTGACTTTTCAGAAGTCGGGAAGCAGTATGTTTGCCTGTTGTAGACCTACTTGCTCACATGCAGATTTGAGAGGACCTCAACGGCTTTTCTCACAAAATCGCTGATTGTTTTTCTTTTTTTGAGATGGAGTCTCGCTGTCGCCCGGGCTGCAGTGCAGTGGCGTGATCTTGGCCCACTACAACCTCCACCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGAATTAGAGGCCCCTACCACTACACTGGGCTTTTTTTTTTTTTTTTTTTTCTGGAGATGAGTCTTGCTCTTTCGCCAGGGTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAGAGGTATGCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGATCTCAAGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAATGTGCCTGGCCGAGAGAGATTCAAGTTAGGGAATATATATGTGTGTTGACCTGGTCCTATATGGCCAAGCTATGGGCTAGCAGGATGCCCTGTGTATGCCAGTCCCAGGGCTTGTTCTTTGACCCCTTGGGAGCCAGAGTCAGATGCTCAGTGTGAGACTGAAACCCCAAGAGCCATAGCTATAGCTATAGTCAGCTGTTTTGTGAGCAGCCTCAGGAGGAACTTTTTGGACCTGGAACTACCCGCTTCCAGGTCCATGGAGCACATTTATCTCGGGGCCTGAGGCTCCCCCTGGAAATGAGGGTGCTGTTTTTGTGTGCATCTGTGGTAGTGGCAGCTACAGAGCCCCACCTGTCTGTTGAAAGATCAGGCATCACTTTTTTCTTTCTAAACTTTTATTGAAAAAAAAACCGAGGAGGTGTGCTGGATCCCTTTTCAGAAAAGCCGCTTCTCATACCTGCAGGCAGAAGGACCACCTGTGAGGTGAGGGCAGGAGAAAGGAGGCATGAGGTATGGCAGAGGCCCCACCAAGGACAGGGTGACTTACGAATGGAGGCTATGGACGCCACCTTCCACCTGGGCTGAGGACGTTCTCTTCTCAAACTTAAGCTCCCCAGAGTACATCATGGCTCTGAAGAAGGGCAGAGGTCAAATGTGGGTAGCTGGCCCTGGACCAGCCCCTCTACCCATGTCCCAGCTCCCCAAGCTCACCGGACTTGGGTCAAGCTCTTGGCACCAATGTCCTGGCATGAGTGTTGGATGCCAGCAATCAGGTAAGGGACAAATTTGTGGATTGACCCTTTGTCCTGCACAGCACCAGACACTCCCTGGGCCACTTTGATTTTGTCAGCTTCACTGCAGGGAGAGGCAGAGACACGGGCAAGGTCACAGCAGAGATGAGACTGTCAGTGCAGGATTAGGGTGGGGTAACTGGCTTGCCTGTCCCACCTGAAATATCTGTTCTGGCTGCTGAGGTGCTTGTCCATGGCATCGAGAGAACCCA | AGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCCCCAGGAGACCCACCACCAGGCTCCCACTGTGCCGAGCTTCCCGCTCGCCCGGCCCCGCGGGTAGCGAAAGCGACAATGTTCCCCTGAGGCCACGACAGAGCCGGCGTGCCGAGATGCCCAAACCCCGCGCGGGGGCCAGCGACTCTCGCGCCAGTAGGCCCTTGACTTGGATCAAGACGGGGGACGGGGGACTCCCAGGACGCGAGCAGAGTGAACGAGGACAAGGTGATGCTCCACGCGCTTCTACTTCAAGTCTGGTCCGGTTCGGCCTGGTCTGGGCCAGCCGAACAGCCACCCAAACACTATCACAGCTTGCCCTTCCGCTTGCTCTGGCTGCCTGCAGACTTGGAGCCATTTTAAGGAGAAACCACCTGGCCACGCCCCCTAGAGAACCCGAGAAGCCAATCCACGCTCGGCCACGCCCCTCTCCGCGCGCTGCGGAGAGGCCAACGGTCGCGCGGGTGACGGTTAGGGCGGGGCGTGCTTCCGCGTCTAGCCGGAGAAACTTGAGCCGGCTGCCCCGCCCACGGTGCCCGAAGCCCCAAAGGCTGGAATTAGGGGCTAGAAGTCTGGCACCCACCGCCTGGCCAGGTGTTCGGGACGCGACCAGGTGGGCGGTCGCCCCGCCCCGGGAGCGCGGCTTAATAGCTGAGAGCCCGGGGGCCAGGCCGCGGCTGCGGCCCAGGCAACGCCCTGAGGGTGGCCACGCTGCCAGGTGTTCCACTCCCCCGGGACTATGGGCAAGGGCCCGGGGCGGGGAGGGCGGCAGGTGCTGACACTGGAGCTGCGCCGGAGGTCGGGGAACTCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGTCGAGCTGTGCGGTGCCCTCCGGGACGCAGGGGGCGCTGCAGCCACGCTGGGTCAGGCTCCGCAGGGCCCTCCCAACCCGGGGACTAACGGCGCCGGTGACGACTTCGCCGCGCGTTGGTCAGCCATGGCCACCGCTCTCGCGCTACGTAGCTTGTACCGAGCGCGACCCTCGCTGCGCTGTCCGCCCGTTGAGCTTCCCTGGTGAGCTTGGACCCCGCGCCCTCGACCATCCAGCCCCCTAGGGCCGGCGACTGCCAGCCCAGCACCTTCCGGCCTCTCGGGCTGCCCGGCCCGGCCCCGCGCCCCTGACCCTTTCCCTCCGCAGGGCCCCGCGGCGAGGGCATCGGCTCTCGCCGGCGGATGACGAGCTGTATCAGCGGACGCGCATCTCTCTGCTGCAACGCGAGGCCGCTCAGGCAATGTACATCGACAGCTACAACAGCCGCGGCTTCATGATAAACGGAAACCGCGTGCTCGGCCCCTGCGCTCTGCTCCCGCACTCGGTGGTGCAGTGGAACGTGAGTCCTGGCCCGCAGTGTGGAAACTGAGGCCCAGAGTCACAGGCCCTCACCCTGCTTGGTCCCTGCAAACTTGGCTTTCCTCTGTCTCCTCCTGCAGTGGATGGAGATGGGGAGAGGCTGCGTGGATTTGTCGTATTAAATGTGCCTCCTCCCTGCACAGGTGGGATCCCACCAGGACATCACCGAAGACAGCTTTTCCCTCTTCTGGTTGCTGGAGCCCCGGATAGGTACTGGGGAAGGGGAGGGAGAACAGAGGTGTTCTGGGCCCCAGAAGGCGACCCCCACTGCAGCCTCTCAACAGAACTGTAGACTAGCCACACCCACCCTTCCCTAGAGATCGTGGTGGTGGGGACTGGAGACCCGACCGAGAGGCTGCAGTCCCAGGTGCTTCAAGCCATGAGGCAGCGGGGCATTGCTGTGGAAGTGCAGGACACGGTGAGTCCCGGGACTGGGGCATGCTGCGGGGAGCACAGGCCTGGCGCTAGACAGGCTGATGCTGGCCTTTTCTTTGCAGCCCAATGCCTGTGCCACCTTCAACTTCCTGTGTCATGAAGGCCGAGTAACTGGAGCTGCTCTCATCCCTCCACCAGGAGGGACTTCACTTACATCTTTGGGCCAAGCTGCTCAATGAACCGCCAGGAACTGACCTGCTGACTGCACTCTGCCAGGCTTCCCAATGCTTTCACTCTTATCTACCCTTTGGCACTTATCTTGCTTATCAACATAATAATTTATACACTTCTCCCATTTTGTATCAGGTGTGTTGCTGGCCAGGAGCTGATGGCTCACTGGGCTCTTGGAGGGGAATGTGAAGAAACCAAGGAGTCACTTTTTCATCTAGATTACTTAGGATTCCTTGACTTTTCAGAAGTCGGGAAGCAGTATGTTTGCCTGTTGTAGACCTACTTGCTCACATGCAGATTTGAGAGGACCTCAACGGCTTTTCTCACAAAATCGCTGATTGTTTTTCTTTTTTTGAGATGGAGTCTCGCTGTCGCCCGGGCTGCAGTGCAGTGGCGTGATCTTGGCCCACTACAACCTCCACCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGAATTAGAGGCCCCTACCACTACACTGGGCTTTTTTTTTTTTTTTTTTTTCTGGAGATGAGTCTTGCTCTTTCGCCAGGGTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAGAGGTATGCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGATCTCAAGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAATGTGCCTGGCCGAGAGAGATTCAAGTTAGGGAATATATATGTGTGTTGACCTGGTCCTATATGGCCAAGCTATGGGCTAGCAGGATGCCCTGTGTATGCCAGTCCCAGGGCTTGTTCTTTGACCCCTTGGGAGCCAGAGTCAGATGCTCAGTGTGAGACTGAAACCCCAAGAGCCATAGCTATAGCTATAGTCAGCTGTTTTGTGAGCAGCCTCAGGAGGAACTTTTTGGACCTGGAACTACCCGCTTCCAGGTCCATGGAGCACATTTATCTCGGGGCCTGAGGCTCCCCCTGGAAATGAGGGTGCTGTTTTTGTGTGCATCTGTGGTAGTGGCAGCTACAGAGCCCCACCTGTCTGTTGAAAGATCAGGCATCACTTTTTTCTTTCTAAACTTTTATTGAAAAAAAAACCGAGGAGGTGTGCTGGATCCCTTTTCAGAAAAGCCGCTTCTCATACCTGCAGGCAGAAGGACCACCTGTGAGGTGAGGGCAGGAGAAAGGAGGCATGAGGTATGGCAGAGGCCCCACCAAGGACAGGGTGACTTACGAATGGAGGCTATGGACGCCACCTTCCACCTGGGCTGAGGACGTTCTCTTCTCAAACTTAAGCTCCCCAGAGTACATCATGGCTCTGAAGAAGGGCAGAGGTCAAATGTGGGTAGCTGGCCCTGGACCAGCCCCTCTACCCATGTCCCAGCTCCCCAAGCTCACCGGACTTGGGTCAAGCTCTTGGCACCAATGTCCTGGCATGAGTGTTGGATGCCAGCAATCAGGTAAGGGACAAATTTGTGGATTGACCCTTTGTCCTGCACAGCACCAGACACTCCCTGGGCCACTTTGATTTTGTCAGCTTCACTGCAGGGAGAGGCAGAGACACGGGCAAGGTCACAGCAGAGATGAGACTGTCAGTGCAGGATTAGGGTGGGGTAACTGGCTTGCCTGTCCCACCTGAAATATCTGTTCTGGCTGCTGAGGTGCTTGTCCATGGCATCGAGAGAACCCA |
Task1_train_6997 | Consider this mutation in QARS1 (glutaminyl-tRNA synthetase 1) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CATACCTCACCTCACCCTCAGGGACTCAGGGCCATGCCCATCCCTACCTTGAACTTCTTCTCCAGATCAGCCTCCAACTTGGGGCCCAGAAGGTGGAGGACCTGAGCAGAGACCAGAATCAGGCAGAGGCAGGAGTATCCTCTTTCAAGGAGCCCCTGACTGATCCTACCCACCAACCCAAGGCTTCCTGGCCTATCTACCAGCACTGACTGAAAAAACCTACCTAGCCCATCCCATCTCTTCTCATGTGGGTCTGCTAGCTTAAAATGCTCTTGCTCTTGTTGCCCAGACTGGAGTCTTGCTCATGTTGCCCAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGGATGGAGTGCAGTGGTGCAATCAGAGCTTACTGCAGCCTTGATCTCTTAGATTCAAGCAATCTTCCCACCACAGCCCCACAAATTGCTGGGACTACAGGTATACACCACCATGTCTGGCTAATTTTTAAATTTTCTGTAGAGAGGAGTTCTCAATATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATCAGAAGCGTGAGCCACCATGCCCAGCCCTCTTCCTGCCTTTTATCCCTTAGTGGATTCCAGGCTCTGTTCATGCCAGAGTCTTTGCCAGCTTCAGCTTAGTGAAGCACGCTCACCTGCATGTCCACTTCATTCTTGATCATTTTGCCATCTGCCCACTTCAGCACAGCCCGAGCCTCTCCTAGAAGCATAGGCACAAGGAGCTGCAGAAAGGCAAAAAAGAGTACTCCCCCCACCTCTTTCCCAAGGAAAGGTCCTGGCTGACCACCAGAACCAGAGCCTGAGCCCAGCCAGACCACTTTAAGTCACTCCTGTTCCTTCCCCCACCTCCTTCTCACTCGTGCCCAGAAGAAAAGGCATGACCAGAGAGAACAATATAGCCCCGTTCCAGGCCCTGCTCACCCATCAGCAGCCCCATGTTGAAATGGTAACGTTCCACCAGGAGCTGGGGCCGGTGCCTGTTAATAGCAGCCTCCACCTGCAGAAAGCCAAACCATGTGGTTCAGGAAAGCCACCTTTAGAGATATTCTGGGAACCCACACCCTCACTCTGGGTCTTCCTGAGGAGGGAAACTGAGCCACTCCTTTCCATGGCCAGGACTGGGGAGGCAGACGATGCCTGGGGAAAGACTCACAGCCTCCTCAATCTGCTCTGGGGTCACAATGACACCCACGCCACATTCCCGCTCGAAGTCCACAGTGTCGATGGGGTCCAAGGGGTGACTCCGCACATACTCAAGGGCAGCTGAGAAGAAAGAGCCCGTGAGTTTGTGGCATCTCTGCTCCAAGAAGTGGACAGACAGGGTCCTAATCTCATGAAACTCCAAGGATAGTCTGGCCTCCTGAAAAGTTAAGCCCTGGCACCACCACCCTAGAGAACACAGGGAAGAAAGAAGCACGTGTCGAGAGTGGATCCCCCCTCAGACCCTGACAGTTCCCGTGTCAGTCTCACCATAGGCCACCCCTTCCATGCCTCAGTGCCTGTGCAGAACTAGGTGTCTAGAAAGAAACTGGAGGACTTGGCAAAAAGGGAAGACAGGGGTCTTGGCTGAAGGGAGGCATTGGTGCGAACTGGCAGGACAGGTAGGGGTCTCACCGCTTAGCTGGGGCTCAGTGTGGATCTTCTTACTGGCTATGTAGCTTACAAGGAAGGAGAGACGCCGGGTATCCCTGAGTCGGGAGGCCAAGCCATATAACAGGATCCCGGTAGCTTTGTCAATGGTGGAACCCAGGGTCTGCTGAGCCTGAGGTCAGAGGGGTCAAGAGAGAAGCCCCGCGCTCAGTGAGAGGAAAGGGCGGGACAAACGGGGCAGGTCGGGATCTGGACCCCGCCCCGCGCTGCGTTGCAGCATGGTCTGCAAACCAGGCCGGGGGCAGAGGGGCTCGCACCTGAGTAGCGGCCTCGCGCAGCTGCGCGCTCAGAGCCGAGTTCTTGAGCGTCTCGCGGGCCTTCTGCTCGCTCAGGCCGAGGCTAGTGAAGAGCGACAGGGAGTCTAGAGCCGCCATTGCAGAGACACCGGAAACTAAAAGAAACTTAGGCCCCAGTCTGCAGGTCGGCATTCACTCGCTGACCAATGAGAGTGAAGCCTCCGGGGAGAGCCAATGGGGTCCTTCCTTGGCGGGAGGGGGCGGGGCGCTCCAAGGTCGTCTATCCCCTTTAAACAACACAGGGCGGACAAACCGGCCTTTCCGGGGGCTTTGCTTCCGCCTCCGTGGAACTGGGAACTTGAAGGGGTGTTGGCAGGCGGCAGGGCTTTTGGAGATATTTGCCACGGACCTGGAAGGAAGGTGTTCGTCCCTGAGGCAGGAGGAAGACACAGGCGTGGTTTTGCTCTGACTTTTCTACTTCAGCCCTGGTAACTCCATCTCAATATAGTAATTGTCCTCGGGGGCAAATGCGAGTCCCTGTCACGCTTTTGACGCCACAGCTTTGGAGTTGTCATGGAAACAGTTGAACAAATGAAGCCCAGGAAATCCCTCATCCAGACTCCATCGTAGAGAATGTGTGGAATGACCGATCCAGGGGCCCCATAAGTCCGCCGGTTTTCAGGTGCCCACTTGGACACAGCTGGCCAGGAAAGGGAAGGGACGGGTCTGGGCCAGGAGGGACCTCACATAAGTTCTATGATGATTTGGTTTAAAATCTTGGCCGGGCGCAGTGGCTCAGGCCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGATCAGCCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTCAACAGAGTAAGACTGTCTCAAAAAAAAAAAAAGAAAAGAAAAAAAAATCTCATCCCACACTTACCCTCTTGCCAAAGCATTATCAGGAAAACCACAAGCAAATTAGACCTTGAAATCCCTCTGCAGGCCTTTGAGAGGATATTTTATTGAGCTTGTGAGAGGGTGGGACAAATGAGATGGTTATAGCTTCATGATTATAGCTGTTGTGCTTGGGGATCTTTCCACAGTCTCACTGGACTTCCAGGACCTGCTGGCTGAAACAGAACAGAGACTTTGTGTGTGTGTGAGAAAAGGGACTAAGGTAGTAAGGGACTGAGGTAGGGGGTTGCAGAGAATGAGCAGCTGGTGGTGGGATGGTGGAAATCCCCACATTTGAGATTGGAGCTCTTGCAGGAATTGGTGATGCTCATACTTCTGGACCTTCAAGGAATAGGCAGGATCCTGACTAGTCTTTATCTATATTCTGTGTCTTTTGTGCCCACATCCCATTATTAATGACCAACCTCCAAGTCTGGGCCTACATCTGGATACCACCTAATGATCACATGCCAGGTGCAGACCAGGGCCACATGCTGTATCGCTATCCAGGTCCAATGCTGTCCTGGGGCTTCCCACATCTCCATGGCCCCGTGGCCCCAGCCAGATGCCTAGCCCTGCAGTGTACTGCATGAGAAAGGCCAGGTGCAGGAATTAAGCAGGGGATGCAGACCAGTGGTGCTAAGGACAGGTACCAAGAAGCAGAGCCATAGCCACACCAGCCGTGCACCAAATTTGAAGCTGCAAGTACCCAGCCCACCATAAAGGTGCCCATGGTGAGCAAAGCCATGCAGAG | CATACCTCACCTCACCCTCAGGGACTCAGGGCCATGCCCATCCCTACCTTGAACTTCTTCTCCAGATCAGCCTCCAACTTGGGGCCCAGAAGGTGGAGGACCTGAGCAGAGACCAGAATCAGGCAGAGGCAGGAGTATCCTCTTTCAAGGAGCCCCTGACTGATCCTACCCACCAACCCAAGGCTTCCTGGCCTATCTACCAGCACTGACTGAAAAAACCTACCTAGCCCATCCCATCTCTTCTCATGTGGGTCTGCTAGCTTAAAATGCTCTTGCTCTTGTTGCCCAGACTGGAGTCTTGCTCATGTTGCCCAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGGATGGAGTGCAGTGGTGCAATCAGAGCTTACTGCAGCCTTGATCTCTTAGATTCAAGCAATCTTCCCACCACAGCCCCACAAATTGCTGGGACTACAGGTATACACCACCATGTCTGGCTAATTTTTAAATTTTCTGTAGAGAGGAGTTCTCAATATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATCAGAAGCGTGAGCCACCATGCCCAGCCCTCTTCCTGCCTTTTATCCCTTAGTGGATTCCAGGCTCTGTTCATGCCAGAGTCTTTGCCAGCTTCAGCTTAGTGAAGCACGCTCACCTGCATGTCCACTTCATTCTTGATCATTTTGCCATCTGCCCACTTCAGCACAGCCCGAGCCTCTCCTAGAAGCATAGGCACAAGGAGCTGCAGAAAGGCAAAAAAGAGTACTCCCCCCACCTCTTTCCCAAGGAAAGGTCCTGGCTGACCACCAGAACCAGAGCCTGAGCCCAGCCAGACCACTTTAAGTCACTCCTGTTCCTTCCCCCACCTCCTTCTCACTCGTGCCCAGAAGAAAAGGCATGACCAGAGAGAACAATATAGCCCCGTTCCAGGCCCTGCTCACCCATCAGCAGCCCCATGTTGAAATGGTAACGTTCCACCAGGAGCTGGGGCCGGTGCCTGTTAATAGCAGCCTCCACCTGCAGAAAGCCAAACCATGTGGTTCAGGAAAGCCACCTTTAGAGATATTCTGGGAACCCACACCCTCACTCTGGGTCTTCCTGAGGAGGGAAACTGAGCCACTCCTTTCCATGGCCAGGACTGGGGAGGCAGACGATGCCTGGGGAAAGACTCACAGCCTCCTCAATCTGCTCTGGGGTCACAATGACACCCACGCCACATTCCCGCTCGAAGTCCACAGTGTCGATGGGGTCCAAGGGGTGACTCCGCACATACTCAAGGGCAGCTGAGAAGAAAGAGCCCGTGAGTTTGTGGCATCTCTGCTCCAAGAAGTGGACAGACAGGGTCCTAATCTCATGAAACTCCAAGGATAGTCTGGCCTCCTGAAAAGTTAAGCCCTGGCACCACCACCCTAGAGAACACAGGGAAGAAAGAAGCACGTGTCGAGAGTGGATCCCCCCTCAGACCCTGACAGTTCCCGTGTCAGTCTCACCATAGGCCACCCCTTCCATGCCTCAGTGCCTGTGCAGAACTAGGTGTCTAGAAAGAAACTGGAGGACTTGGCAAAAAGGGAAGACAGGGGTCTTGGCTGAAGGGAGGCATTGGTGCGAACTGGCAGGACAGGTAGGGGTCTCACCGCTTAGCTGGGGCTCAGTGTGGATCTTCTTACTGGCTATGTAGCTTACAAGGAAGGAGAGACGCCGGGTATCCCTGAGTCGGGAGGCCAAGCCATGTAACAGGATCCCGGTAGCTTTGTCAATGGTGGAACCCAGGGTCTGCTGAGCCTGAGGTCAGAGGGGTCAAGAGAGAAGCCCCGCGCTCAGTGAGAGGAAAGGGCGGGACAAACGGGGCAGGTCGGGATCTGGACCCCGCCCCGCGCTGCGTTGCAGCATGGTCTGCAAACCAGGCCGGGGGCAGAGGGGCTCGCACCTGAGTAGCGGCCTCGCGCAGCTGCGCGCTCAGAGCCGAGTTCTTGAGCGTCTCGCGGGCCTTCTGCTCGCTCAGGCCGAGGCTAGTGAAGAGCGACAGGGAGTCTAGAGCCGCCATTGCAGAGACACCGGAAACTAAAAGAAACTTAGGCCCCAGTCTGCAGGTCGGCATTCACTCGCTGACCAATGAGAGTGAAGCCTCCGGGGAGAGCCAATGGGGTCCTTCCTTGGCGGGAGGGGGCGGGGCGCTCCAAGGTCGTCTATCCCCTTTAAACAACACAGGGCGGACAAACCGGCCTTTCCGGGGGCTTTGCTTCCGCCTCCGTGGAACTGGGAACTTGAAGGGGTGTTGGCAGGCGGCAGGGCTTTTGGAGATATTTGCCACGGACCTGGAAGGAAGGTGTTCGTCCCTGAGGCAGGAGGAAGACACAGGCGTGGTTTTGCTCTGACTTTTCTACTTCAGCCCTGGTAACTCCATCTCAATATAGTAATTGTCCTCGGGGGCAAATGCGAGTCCCTGTCACGCTTTTGACGCCACAGCTTTGGAGTTGTCATGGAAACAGTTGAACAAATGAAGCCCAGGAAATCCCTCATCCAGACTCCATCGTAGAGAATGTGTGGAATGACCGATCCAGGGGCCCCATAAGTCCGCCGGTTTTCAGGTGCCCACTTGGACACAGCTGGCCAGGAAAGGGAAGGGACGGGTCTGGGCCAGGAGGGACCTCACATAAGTTCTATGATGATTTGGTTTAAAATCTTGGCCGGGCGCAGTGGCTCAGGCCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGATCAGCCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTCAACAGAGTAAGACTGTCTCAAAAAAAAAAAAAGAAAAGAAAAAAAAATCTCATCCCACACTTACCCTCTTGCCAAAGCATTATCAGGAAAACCACAAGCAAATTAGACCTTGAAATCCCTCTGCAGGCCTTTGAGAGGATATTTTATTGAGCTTGTGAGAGGGTGGGACAAATGAGATGGTTATAGCTTCATGATTATAGCTGTTGTGCTTGGGGATCTTTCCACAGTCTCACTGGACTTCCAGGACCTGCTGGCTGAAACAGAACAGAGACTTTGTGTGTGTGTGAGAAAAGGGACTAAGGTAGTAAGGGACTGAGGTAGGGGGTTGCAGAGAATGAGCAGCTGGTGGTGGGATGGTGGAAATCCCCACATTTGAGATTGGAGCTCTTGCAGGAATTGGTGATGCTCATACTTCTGGACCTTCAAGGAATAGGCAGGATCCTGACTAGTCTTTATCTATATTCTGTGTCTTTTGTGCCCACATCCCATTATTAATGACCAACCTCCAAGTCTGGGCCTACATCTGGATACCACCTAATGATCACATGCCAGGTGCAGACCAGGGCCACATGCTGTATCGCTATCCAGGTCCAATGCTGTCCTGGGGCTTCCCACATCTCCATGGCCCCGTGGCCCCAGCCAGATGCCTAGCCCTGCAGTGTACTGCATGAGAAAGGCCAGGTGCAGGAATTAAGCAGGGGATGCAGACCAGTGGTGCTAAGGACAGGTACCAAGAAGCAGAGCCATAGCCACACCAGCCGTGCACCAAATTTGAAGCTGCAAGTACCCAGCCCACCATAAAGGTGCCCATGGTGAGCAAAGCCATGCAGAG |
Task1_train_6998 | This alteration in QARS1 (glutaminyl-tRNA synthetase 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | CCAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGGATGGAGTGCAGTGGTGCAATCAGAGCTTACTGCAGCCTTGATCTCTTAGATTCAAGCAATCTTCCCACCACAGCCCCACAAATTGCTGGGACTACAGGTATACACCACCATGTCTGGCTAATTTTTAAATTTTCTGTAGAGAGGAGTTCTCAATATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATCAGAAGCGTGAGCCACCATGCCCAGCCCTCTTCCTGCCTTTTATCCCTTAGTGGATTCCAGGCTCTGTTCATGCCAGAGTCTTTGCCAGCTTCAGCTTAGTGAAGCACGCTCACCTGCATGTCCACTTCATTCTTGATCATTTTGCCATCTGCCCACTTCAGCACAGCCCGAGCCTCTCCTAGAAGCATAGGCACAAGGAGCTGCAGAAAGGCAAAAAAGAGTACTCCCCCCACCTCTTTCCCAAGGAAAGGTCCTGGCTGACCACCAGAACCAGAGCCTGAGCCCAGCCAGACCACTTTAAGTCACTCCTGTTCCTTCCCCCACCTCCTTCTCACTCGTGCCCAGAAGAAAAGGCATGACCAGAGAGAACAATATAGCCCCGTTCCAGGCCCTGCTCACCCATCAGCAGCCCCATGTTGAAATGGTAACGTTCCACCAGGAGCTGGGGCCGGTGCCTGTTAATAGCAGCCTCCACCTGCAGAAAGCCAAACCATGTGGTTCAGGAAAGCCACCTTTAGAGATATTCTGGGAACCCACACCCTCACTCTGGGTCTTCCTGAGGAGGGAAACTGAGCCACTCCTTTCCATGGCCAGGACTGGGGAGGCAGACGATGCCTGGGGAAAGACTCACAGCCTCCTCAATCTGCTCTGGGGTCACAATGACACCCACGCCACATTCCCGCTCGAAGTCCACAGTGTCGATGGGGTCCAAGGGGTGACTCCGCACATACTCAAGGGCAGCTGAGAAGAAAGAGCCCGTGAGTTTGTGGCATCTCTGCTCCAAGAAGTGGACAGACAGGGTCCTAATCTCATGAAACTCCAAGGATAGTCTGGCCTCCTGAAAAGTTAAGCCCTGGCACCACCACCCTAGAGAACACAGGGAAGAAAGAAGCACGTGTCGAGAGTGGATCCCCCCTCAGACCCTGACAGTTCCCGTGTCAGTCTCACCATAGGCCACCCCTTCCATGCCTCAGTGCCTGTGCAGAACTAGGTGTCTAGAAAGAAACTGGAGGACTTGGCAAAAAGGGAAGACAGGGGTCTTGGCTGAAGGGAGGCATTGGTGCGAACTGGCAGGACAGGTAGGGGTCTCACCGCTTAGCTGGGGCTCAGTGTGGATCTTCTTACTGGCTATGTAGCTTACAAGGAAGGAGAGACGCCGGGTATCCCTGAGTCGGGAGGCCAAGCCATATAACAGGATCCCGGTAGCTTTGTCAATGGTGGAACCCAGGGTCTGCTGAGCCTGAGGTCAGAGGGGTCAAGAGAGAAGCCCCGCGCTCAGTGAGAGGAAAGGGCGGGACAAACGGGGCAGGTCGGGATCTGGACCCCGCCCCGCGCTGCGTTGCAGCATGGTCTGCAAACCAGGCCGGGGGCAGAGGGGCTCGCACCTGAGTAGCGGCCTCGCGCAGCTGCGCGCTCAGAGCCGAGTTCTTGAGCGTCTCGCGGGCCTTCTGCTCGCTCAGGCCGAGGCTAGTGAAGAGCGACAGGGAGTCTAGAGCCGCCATTGCAGAGACACCGGAAACTAAAAGAAACTTAGGCCCCAGTCTGCAGGTCGGCATTCACTCGCTGACCAATGAGAGTGAAGCCTCCGGGGAGAGCCAATGGGGTCCTTCCTTGGCGGGAGGGGGCGGGGCGCTCCAAGGTCGTCTATCCCCTTTAAACAACACAGGGCGGACAAACCGGCCTTTCCGGGGGCTTTGCTTCCGCCTCCGTGGAACTGGGAACTTGAAGGGGTGTTGGCAGGCGGCAGGGCTTTTGGAGATATTTGCCACGGACCTGGAAGGAAGGTGTTCGTCCCTGAGGCAGGAGGAAGACACAGGCGTGGTTTTGCTCTGACTTTTCTACTTCAGCCCTGGTAACTCCATCTCAATATAGTAATTGTCCTCGGGGGCAAATGCGAGTCCCTGTCACGCTTTTGACGCCACAGCTTTGGAGTTGTCATGGAAACAGTTGAACAAATGAAGCCCAGGAAATCCCTCATCCAGACTCCATCGTAGAGAATGTGTGGAATGACCGATCCAGGGGCCCCATAAGTCCGCCGGTTTTCAGGTGCCCACTTGGACACAGCTGGCCAGGAAAGGGAAGGGACGGGTCTGGGCCAGGAGGGACCTCACATAAGTTCTATGATGATTTGGTTTAAAATCTTGGCCGGGCGCAGTGGCTCAGGCCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGATCAGCCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTCAACAGAGTAAGACTGTCTCAAAAAAAAAAAAAGAAAAGAAAAAAAAATCTCATCCCACACTTACCCTCTTGCCAAAGCATTATCAGGAAAACCACAAGCAAATTAGACCTTGAAATCCCTCTGCAGGCCTTTGAGAGGATATTTTATTGAGCTTGTGAGAGGGTGGGACAAATGAGATGGTTATAGCTTCATGATTATAGCTGTTGTGCTTGGGGATCTTTCCACAGTCTCACTGGACTTCCAGGACCTGCTGGCTGAAACAGAACAGAGACTTTGTGTGTGTGTGAGAAAAGGGACTAAGGTAGTAAGGGACTGAGGTAGGGGGTTGCAGAGAATGAGCAGCTGGTGGTGGGATGGTGGAAATCCCCACATTTGAGATTGGAGCTCTTGCAGGAATTGGTGATGCTCATACTTCTGGACCTTCAAGGAATAGGCAGGATCCTGACTAGTCTTTATCTATATTCTGTGTCTTTTGTGCCCACATCCCATTATTAATGACCAACCTCCAAGTCTGGGCCTACATCTGGATACCACCTAATGATCACATGCCAGGTGCAGACCAGGGCCACATGCTGTATCGCTATCCAGGTCCAATGCTGTCCTGGGGCTTCCCACATCTCCATGGCCCCGTGGCCCCAGCCAGATGCCTAGCCCTGCAGTGTACTGCATGAGAAAGGCCAGGTGCAGGAATTAAGCAGGGGATGCAGACCAGTGGTGCTAAGGACAGGTACCAAGAAGCAGAGCCATAGCCACACCAGCCGTGCACCAAATTTGAAGCTGCAAGTACCCAGCCCACCATAAAGGTGCCCATGGTGAGCAAAGCCATGCAGAGTGCCTGCCACTGCCACTATTTCCTCAGTACCTGATGCTGCCAATAGATTCACTGTAGCACCATCACCAAGTCCTACAGGTCTAGTGATGGCTCCCTCAATGAGATCAAGATCTGCACTCCCTTCCCTGGTTACTTCATGGTACACTGTGGACGCCATGGCTACAAGTCATAGAATGAGGCAGTAGCCCCACCAGTGTCACCAAGAATGCCACAAGTGGTAGCATACCAGTCGATATCCAGCTAGTGCCCTAGATGTCTACGACTTGCACAAAGCAGAAATGTTAAATTGTATGGGCCCAGTCTGGAGGTTA | CCAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGGATGGAGTGCAGTGGTGCAATCAGAGCTTACTGCAGCCTTGATCTCTTAGATTCAAGCAATCTTCCCACCACAGCCCCACAAATTGCTGGGACTACAGGTATACACCACCATGTCTGGCTAATTTTTAAATTTTCTGTAGAGAGGAGTTCTCAATATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATCAGAAGCGTGAGCCACCATGCCCAGCCCTCTTCCTGCCTTTTATCCCTTAGTGGATTCCAGGCTCTGTTCATGCCAGAGTCTTTGCCAGCTTCAGCTTAGTGAAGCACGCTCACCTGCATGTCCACTTCATTCTTGATCATTTTGCCATCTGCCCACTTCAGCACAGCCCGAGCCTCTCCTAGAAGCATAGGCACAAGGAGCTGCAGAAAGGCAAAAAAGAGTACTCCCCCCACCTCTTTCCCAAGGAAAGGTCCTGGCTGACCACCAGAACCAGAGCCTGAGCCCAGCCAGACCACTTTAAGTCACTCCTGTTCCTTCCCCCACCTCCTTCTCACTCGTGCCCAGAAGAAAAGGCATGACCAGAGAGAACAATATAGCCCCGTTCCAGGCCCTGCTCACCCATCAGCAGCCCCATGTTGAAATGGTAACGTTCCACCAGGAGCTGGGGCCGGTGCCTGTTAATAGCAGCCTCCACCTGCAGAAAGCCAAACCATGTGGTTCAGGAAAGCCACCTTTAGAGATATTCTGGGAACCCACACCCTCACTCTGGGTCTTCCTGAGGAGGGAAACTGAGCCACTCCTTTCCATGGCCAGGACTGGGGAGGCAGACGATGCCTGGGGAAAGACTCACAGCCTCCTCAATCTGCTCTGGGGTCACAATGACACCCACGCCACATTCCCGCTCGAAGTCCACAGTGTCGATGGGGTCCAAGGGGTGACTCCGCACATACTCAAGGGCAGCTGAGAAGAAAGAGCCCGTGAGTTTGTGGCATCTCTGCTCCAAGAAGTGGACAGACAGGGTCCTAATCTCATGAAACTCCAAGGATAGTCTGGCCTCCTGAAAAGTTAAGCCCTGGCACCACCACCCTAGAGAACACAGGGAAGAAAGAAGCACGTGTCGAGAGTGGATCCCCCCTCAGACCCTGACAGTTCCCGTGTCAGTCTCACCATAGGCCACCCCTTCCATGCCTCAGTGCCTGTGCAGAACTAGGTGTCTAGAAAGAAACTGGAGGACTTGGCAAAAAGGGAAGACAGGGGTCTTGGCTGAAGGGAGGCATTGGTGCGAACTGGCAGGACAGGTAGGGGTCTCACCGCTTAGCTGGGGCTCAGTGTGGATCTTCTTACTGGCTATGTAGCTTACAAGGAAGGAGAGACGCCGGGTATCCCTGAGTCGGGAGGCCAAGCCATATAACAGGATCCCGGTAGCTTTGTCAATGGTGGAACCCAGGGTCTGCTGAGCCTGAGGTCAGAGGGGTCAAGAGAGAAGCCCCGCGCTCAGTGAGAGGAAAGGGCGGGACAAACGGGGCAGGTCGGGATCTGGACCCCGCCCCGCGCTGCGTTGCAGCATGGTCTGCAAACCAGGCCGGGGGCAGAGGGGCTCGCACCTGAGTAGCGGCCTCGCGCAGCTGCGCGCTCAGAGCCGAGTTCTTGAGCGTCTCGCGGGCCTTCTGCTCGCTCAGGCCGAGGCTAGTGAAGAGCGACAGGGAGTCTAGAGCCGCTATTGCAGAGACACCGGAAACTAAAAGAAACTTAGGCCCCAGTCTGCAGGTCGGCATTCACTCGCTGACCAATGAGAGTGAAGCCTCCGGGGAGAGCCAATGGGGTCCTTCCTTGGCGGGAGGGGGCGGGGCGCTCCAAGGTCGTCTATCCCCTTTAAACAACACAGGGCGGACAAACCGGCCTTTCCGGGGGCTTTGCTTCCGCCTCCGTGGAACTGGGAACTTGAAGGGGTGTTGGCAGGCGGCAGGGCTTTTGGAGATATTTGCCACGGACCTGGAAGGAAGGTGTTCGTCCCTGAGGCAGGAGGAAGACACAGGCGTGGTTTTGCTCTGACTTTTCTACTTCAGCCCTGGTAACTCCATCTCAATATAGTAATTGTCCTCGGGGGCAAATGCGAGTCCCTGTCACGCTTTTGACGCCACAGCTTTGGAGTTGTCATGGAAACAGTTGAACAAATGAAGCCCAGGAAATCCCTCATCCAGACTCCATCGTAGAGAATGTGTGGAATGACCGATCCAGGGGCCCCATAAGTCCGCCGGTTTTCAGGTGCCCACTTGGACACAGCTGGCCAGGAAAGGGAAGGGACGGGTCTGGGCCAGGAGGGACCTCACATAAGTTCTATGATGATTTGGTTTAAAATCTTGGCCGGGCGCAGTGGCTCAGGCCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGATCAGCCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTCAACAGAGTAAGACTGTCTCAAAAAAAAAAAAAGAAAAGAAAAAAAAATCTCATCCCACACTTACCCTCTTGCCAAAGCATTATCAGGAAAACCACAAGCAAATTAGACCTTGAAATCCCTCTGCAGGCCTTTGAGAGGATATTTTATTGAGCTTGTGAGAGGGTGGGACAAATGAGATGGTTATAGCTTCATGATTATAGCTGTTGTGCTTGGGGATCTTTCCACAGTCTCACTGGACTTCCAGGACCTGCTGGCTGAAACAGAACAGAGACTTTGTGTGTGTGTGAGAAAAGGGACTAAGGTAGTAAGGGACTGAGGTAGGGGGTTGCAGAGAATGAGCAGCTGGTGGTGGGATGGTGGAAATCCCCACATTTGAGATTGGAGCTCTTGCAGGAATTGGTGATGCTCATACTTCTGGACCTTCAAGGAATAGGCAGGATCCTGACTAGTCTTTATCTATATTCTGTGTCTTTTGTGCCCACATCCCATTATTAATGACCAACCTCCAAGTCTGGGCCTACATCTGGATACCACCTAATGATCACATGCCAGGTGCAGACCAGGGCCACATGCTGTATCGCTATCCAGGTCCAATGCTGTCCTGGGGCTTCCCACATCTCCATGGCCCCGTGGCCCCAGCCAGATGCCTAGCCCTGCAGTGTACTGCATGAGAAAGGCCAGGTGCAGGAATTAAGCAGGGGATGCAGACCAGTGGTGCTAAGGACAGGTACCAAGAAGCAGAGCCATAGCCACACCAGCCGTGCACCAAATTTGAAGCTGCAAGTACCCAGCCCACCATAAAGGTGCCCATGGTGAGCAAAGCCATGCAGAGTGCCTGCCACTGCCACTATTTCCTCAGTACCTGATGCTGCCAATAGATTCACTGTAGCACCATCACCAAGTCCTACAGGTCTAGTGATGGCTCCCTCAATGAGATCAAGATCTGCACTCCCTTCCCTGGTTACTTCATGGTACACTGTGGACGCCATGGCTACAAGTCATAGAATGAGGCAGTAGCCCCACCAGTGTCACCAAGAATGCCACAAGTGGTAGCATACCAGTCGATATCCAGCTAGTGCCCTAGATGTCTACGACTTGCACAAAGCAGAAATGTTAAATTGTATGGGCCCAGTCTGGAGGTTA |
Task1_train_6999 | A variant on Chromosome 3 in gene QARS1 (glutaminyl-tRNA synthetase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | CAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGGATGGAGTGCAGTGGTGCAATCAGAGCTTACTGCAGCCTTGATCTCTTAGATTCAAGCAATCTTCCCACCACAGCCCCACAAATTGCTGGGACTACAGGTATACACCACCATGTCTGGCTAATTTTTAAATTTTCTGTAGAGAGGAGTTCTCAATATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATCAGAAGCGTGAGCCACCATGCCCAGCCCTCTTCCTGCCTTTTATCCCTTAGTGGATTCCAGGCTCTGTTCATGCCAGAGTCTTTGCCAGCTTCAGCTTAGTGAAGCACGCTCACCTGCATGTCCACTTCATTCTTGATCATTTTGCCATCTGCCCACTTCAGCACAGCCCGAGCCTCTCCTAGAAGCATAGGCACAAGGAGCTGCAGAAAGGCAAAAAAGAGTACTCCCCCCACCTCTTTCCCAAGGAAAGGTCCTGGCTGACCACCAGAACCAGAGCCTGAGCCCAGCCAGACCACTTTAAGTCACTCCTGTTCCTTCCCCCACCTCCTTCTCACTCGTGCCCAGAAGAAAAGGCATGACCAGAGAGAACAATATAGCCCCGTTCCAGGCCCTGCTCACCCATCAGCAGCCCCATGTTGAAATGGTAACGTTCCACCAGGAGCTGGGGCCGGTGCCTGTTAATAGCAGCCTCCACCTGCAGAAAGCCAAACCATGTGGTTCAGGAAAGCCACCTTTAGAGATATTCTGGGAACCCACACCCTCACTCTGGGTCTTCCTGAGGAGGGAAACTGAGCCACTCCTTTCCATGGCCAGGACTGGGGAGGCAGACGATGCCTGGGGAAAGACTCACAGCCTCCTCAATCTGCTCTGGGGTCACAATGACACCCACGCCACATTCCCGCTCGAAGTCCACAGTGTCGATGGGGTCCAAGGGGTGACTCCGCACATACTCAAGGGCAGCTGAGAAGAAAGAGCCCGTGAGTTTGTGGCATCTCTGCTCCAAGAAGTGGACAGACAGGGTCCTAATCTCATGAAACTCCAAGGATAGTCTGGCCTCCTGAAAAGTTAAGCCCTGGCACCACCACCCTAGAGAACACAGGGAAGAAAGAAGCACGTGTCGAGAGTGGATCCCCCCTCAGACCCTGACAGTTCCCGTGTCAGTCTCACCATAGGCCACCCCTTCCATGCCTCAGTGCCTGTGCAGAACTAGGTGTCTAGAAAGAAACTGGAGGACTTGGCAAAAAGGGAAGACAGGGGTCTTGGCTGAAGGGAGGCATTGGTGCGAACTGGCAGGACAGGTAGGGGTCTCACCGCTTAGCTGGGGCTCAGTGTGGATCTTCTTACTGGCTATGTAGCTTACAAGGAAGGAGAGACGCCGGGTATCCCTGAGTCGGGAGGCCAAGCCATATAACAGGATCCCGGTAGCTTTGTCAATGGTGGAACCCAGGGTCTGCTGAGCCTGAGGTCAGAGGGGTCAAGAGAGAAGCCCCGCGCTCAGTGAGAGGAAAGGGCGGGACAAACGGGGCAGGTCGGGATCTGGACCCCGCCCCGCGCTGCGTTGCAGCATGGTCTGCAAACCAGGCCGGGGGCAGAGGGGCTCGCACCTGAGTAGCGGCCTCGCGCAGCTGCGCGCTCAGAGCCGAGTTCTTGAGCGTCTCGCGGGCCTTCTGCTCGCTCAGGCCGAGGCTAGTGAAGAGCGACAGGGAGTCTAGAGCCGCCATTGCAGAGACACCGGAAACTAAAAGAAACTTAGGCCCCAGTCTGCAGGTCGGCATTCACTCGCTGACCAATGAGAGTGAAGCCTCCGGGGAGAGCCAATGGGGTCCTTCCTTGGCGGGAGGGGGCGGGGCGCTCCAAGGTCGTCTATCCCCTTTAAACAACACAGGGCGGACAAACCGGCCTTTCCGGGGGCTTTGCTTCCGCCTCCGTGGAACTGGGAACTTGAAGGGGTGTTGGCAGGCGGCAGGGCTTTTGGAGATATTTGCCACGGACCTGGAAGGAAGGTGTTCGTCCCTGAGGCAGGAGGAAGACACAGGCGTGGTTTTGCTCTGACTTTTCTACTTCAGCCCTGGTAACTCCATCTCAATATAGTAATTGTCCTCGGGGGCAAATGCGAGTCCCTGTCACGCTTTTGACGCCACAGCTTTGGAGTTGTCATGGAAACAGTTGAACAAATGAAGCCCAGGAAATCCCTCATCCAGACTCCATCGTAGAGAATGTGTGGAATGACCGATCCAGGGGCCCCATAAGTCCGCCGGTTTTCAGGTGCCCACTTGGACACAGCTGGCCAGGAAAGGGAAGGGACGGGTCTGGGCCAGGAGGGACCTCACATAAGTTCTATGATGATTTGGTTTAAAATCTTGGCCGGGCGCAGTGGCTCAGGCCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGATCAGCCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTCAACAGAGTAAGACTGTCTCAAAAAAAAAAAAAGAAAAGAAAAAAAAATCTCATCCCACACTTACCCTCTTGCCAAAGCATTATCAGGAAAACCACAAGCAAATTAGACCTTGAAATCCCTCTGCAGGCCTTTGAGAGGATATTTTATTGAGCTTGTGAGAGGGTGGGACAAATGAGATGGTTATAGCTTCATGATTATAGCTGTTGTGCTTGGGGATCTTTCCACAGTCTCACTGGACTTCCAGGACCTGCTGGCTGAAACAGAACAGAGACTTTGTGTGTGTGTGAGAAAAGGGACTAAGGTAGTAAGGGACTGAGGTAGGGGGTTGCAGAGAATGAGCAGCTGGTGGTGGGATGGTGGAAATCCCCACATTTGAGATTGGAGCTCTTGCAGGAATTGGTGATGCTCATACTTCTGGACCTTCAAGGAATAGGCAGGATCCTGACTAGTCTTTATCTATATTCTGTGTCTTTTGTGCCCACATCCCATTATTAATGACCAACCTCCAAGTCTGGGCCTACATCTGGATACCACCTAATGATCACATGCCAGGTGCAGACCAGGGCCACATGCTGTATCGCTATCCAGGTCCAATGCTGTCCTGGGGCTTCCCACATCTCCATGGCCCCGTGGCCCCAGCCAGATGCCTAGCCCTGCAGTGTACTGCATGAGAAAGGCCAGGTGCAGGAATTAAGCAGGGGATGCAGACCAGTGGTGCTAAGGACAGGTACCAAGAAGCAGAGCCATAGCCACACCAGCCGTGCACCAAATTTGAAGCTGCAAGTACCCAGCCCACCATAAAGGTGCCCATGGTGAGCAAAGCCATGCAGAGTGCCTGCCACTGCCACTATTTCCTCAGTACCTGATGCTGCCAATAGATTCACTGTAGCACCATCACCAAGTCCTACAGGTCTAGTGATGGCTCCCTCAATGAGATCAAGATCTGCACTCCCTTCCCTGGTTACTTCATGGTACACTGTGGACGCCATGGCTACAAGTCATAGAATGAGGCAGTAGCCCCACCAGTGTCACCAAGAATGCCACAAGTGGTAGCATACCAGTCGATATCCAGCTAGTGCCCTAGATGTCTACGACTTGCACAAAGCAGAAATGTTAAATTGTATGGGCCCAGTCTGGAGGTTAG | CAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGGATGGAGTGCAGTGGTGCAATCAGAGCTTACTGCAGCCTTGATCTCTTAGATTCAAGCAATCTTCCCACCACAGCCCCACAAATTGCTGGGACTACAGGTATACACCACCATGTCTGGCTAATTTTTAAATTTTCTGTAGAGAGGAGTTCTCAATATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATCAGAAGCGTGAGCCACCATGCCCAGCCCTCTTCCTGCCTTTTATCCCTTAGTGGATTCCAGGCTCTGTTCATGCCAGAGTCTTTGCCAGCTTCAGCTTAGTGAAGCACGCTCACCTGCATGTCCACTTCATTCTTGATCATTTTGCCATCTGCCCACTTCAGCACAGCCCGAGCCTCTCCTAGAAGCATAGGCACAAGGAGCTGCAGAAAGGCAAAAAAGAGTACTCCCCCCACCTCTTTCCCAAGGAAAGGTCCTGGCTGACCACCAGAACCAGAGCCTGAGCCCAGCCAGACCACTTTAAGTCACTCCTGTTCCTTCCCCCACCTCCTTCTCACTCGTGCCCAGAAGAAAAGGCATGACCAGAGAGAACAATATAGCCCCGTTCCAGGCCCTGCTCACCCATCAGCAGCCCCATGTTGAAATGGTAACGTTCCACCAGGAGCTGGGGCCGGTGCCTGTTAATAGCAGCCTCCACCTGCAGAAAGCCAAACCATGTGGTTCAGGAAAGCCACCTTTAGAGATATTCTGGGAACCCACACCCTCACTCTGGGTCTTCCTGAGGAGGGAAACTGAGCCACTCCTTTCCATGGCCAGGACTGGGGAGGCAGACGATGCCTGGGGAAAGACTCACAGCCTCCTCAATCTGCTCTGGGGTCACAATGACACCCACGCCACATTCCCGCTCGAAGTCCACAGTGTCGATGGGGTCCAAGGGGTGACTCCGCACATACTCAAGGGCAGCTGAGAAGAAAGAGCCCGTGAGTTTGTGGCATCTCTGCTCCAAGAAGTGGACAGACAGGGTCCTAATCTCATGAAACTCCAAGGATAGTCTGGCCTCCTGAAAAGTTAAGCCCTGGCACCACCACCCTAGAGAACACAGGGAAGAAAGAAGCACGTGTCGAGAGTGGATCCCCCCTCAGACCCTGACAGTTCCCGTGTCAGTCTCACCATAGGCCACCCCTTCCATGCCTCAGTGCCTGTGCAGAACTAGGTGTCTAGAAAGAAACTGGAGGACTTGGCAAAAAGGGAAGACAGGGGTCTTGGCTGAAGGGAGGCATTGGTGCGAACTGGCAGGACAGGTAGGGGTCTCACCGCTTAGCTGGGGCTCAGTGTGGATCTTCTTACTGGCTATGTAGCTTACAAGGAAGGAGAGACGCCGGGTATCCCTGAGTCGGGAGGCCAAGCCATATAACAGGATCCCGGTAGCTTTGTCAATGGTGGAACCCAGGGTCTGCTGAGCCTGAGGTCAGAGGGGTCAAGAGAGAAGCCCCGCGCTCAGTGAGAGGAAAGGGCGGGACAAACGGGGCAGGTCGGGATCTGGACCCCGCCCCGCGCTGCGTTGCAGCATGGTCTGCAAACCAGGCCGGGGGCAGAGGGGCTCGCACCTGAGTAGCGGCCTCGCGCAGCTGCGCGCTCAGAGCCGAGTTCTTGAGCGTCTCGCGGGCCTTCTGCTCGCTCAGGCCGAGGCTAGTGAAGAGCGACAGGGAGTCTAGAGCCGCCGTTGCAGAGACACCGGAAACTAAAAGAAACTTAGGCCCCAGTCTGCAGGTCGGCATTCACTCGCTGACCAATGAGAGTGAAGCCTCCGGGGAGAGCCAATGGGGTCCTTCCTTGGCGGGAGGGGGCGGGGCGCTCCAAGGTCGTCTATCCCCTTTAAACAACACAGGGCGGACAAACCGGCCTTTCCGGGGGCTTTGCTTCCGCCTCCGTGGAACTGGGAACTTGAAGGGGTGTTGGCAGGCGGCAGGGCTTTTGGAGATATTTGCCACGGACCTGGAAGGAAGGTGTTCGTCCCTGAGGCAGGAGGAAGACACAGGCGTGGTTTTGCTCTGACTTTTCTACTTCAGCCCTGGTAACTCCATCTCAATATAGTAATTGTCCTCGGGGGCAAATGCGAGTCCCTGTCACGCTTTTGACGCCACAGCTTTGGAGTTGTCATGGAAACAGTTGAACAAATGAAGCCCAGGAAATCCCTCATCCAGACTCCATCGTAGAGAATGTGTGGAATGACCGATCCAGGGGCCCCATAAGTCCGCCGGTTTTCAGGTGCCCACTTGGACACAGCTGGCCAGGAAAGGGAAGGGACGGGTCTGGGCCAGGAGGGACCTCACATAAGTTCTATGATGATTTGGTTTAAAATCTTGGCCGGGCGCAGTGGCTCAGGCCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGATCAGCCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTCAACAGAGTAAGACTGTCTCAAAAAAAAAAAAAGAAAAGAAAAAAAAATCTCATCCCACACTTACCCTCTTGCCAAAGCATTATCAGGAAAACCACAAGCAAATTAGACCTTGAAATCCCTCTGCAGGCCTTTGAGAGGATATTTTATTGAGCTTGTGAGAGGGTGGGACAAATGAGATGGTTATAGCTTCATGATTATAGCTGTTGTGCTTGGGGATCTTTCCACAGTCTCACTGGACTTCCAGGACCTGCTGGCTGAAACAGAACAGAGACTTTGTGTGTGTGTGAGAAAAGGGACTAAGGTAGTAAGGGACTGAGGTAGGGGGTTGCAGAGAATGAGCAGCTGGTGGTGGGATGGTGGAAATCCCCACATTTGAGATTGGAGCTCTTGCAGGAATTGGTGATGCTCATACTTCTGGACCTTCAAGGAATAGGCAGGATCCTGACTAGTCTTTATCTATATTCTGTGTCTTTTGTGCCCACATCCCATTATTAATGACCAACCTCCAAGTCTGGGCCTACATCTGGATACCACCTAATGATCACATGCCAGGTGCAGACCAGGGCCACATGCTGTATCGCTATCCAGGTCCAATGCTGTCCTGGGGCTTCCCACATCTCCATGGCCCCGTGGCCCCAGCCAGATGCCTAGCCCTGCAGTGTACTGCATGAGAAAGGCCAGGTGCAGGAATTAAGCAGGGGATGCAGACCAGTGGTGCTAAGGACAGGTACCAAGAAGCAGAGCCATAGCCACACCAGCCGTGCACCAAATTTGAAGCTGCAAGTACCCAGCCCACCATAAAGGTGCCCATGGTGAGCAAAGCCATGCAGAGTGCCTGCCACTGCCACTATTTCCTCAGTACCTGATGCTGCCAATAGATTCACTGTAGCACCATCACCAAGTCCTACAGGTCTAGTGATGGCTCCCTCAATGAGATCAAGATCTGCACTCCCTTCCCTGGTTACTTCATGGTACACTGTGGACGCCATGGCTACAAGTCATAGAATGAGGCAGTAGCCCCACCAGTGTCACCAAGAATGCCACAAGTGGTAGCATACCAGTCGATATCCAGCTAGTGCCCTAGATGTCTACGACTTGCACAAAGCAGAAATGTTAAATTGTATGGGCCCAGTCTGGAGGTTAG |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.