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 |
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Task1_train_29600 | Consider this mutation in OTC (ornithine transcarbamylase) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAAT... | AACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAAT... |
Task1_train_29601 | Here is a variant affecting OTC (ornithine transcarbamylase) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | ACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATA... | ACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATA... |
Task1_train_29602 | A variant has been detected on Chromosome X in OTC (ornithine transcarbamylase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAG... | CTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAG... |
Task1_train_29603 | Consider this mutation in OTC (ornithine transcarbamylase) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Ornithine carbamoyltransferase deficiency | CTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAA... | CTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAA... |
Task1_train_29604 | With a mutation on Chromosome X in gene OTC (ornithine transcarbamylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ornithine carbamoyltransferase deficiency | GATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGG... | GATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGG... |
Task1_train_29605 | A mutation in OTC (ornithine transcarbamylase), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Ornithine carbamoyltransferase deficiency | ATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGG... | ATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGG... |
Task1_train_29606 | A mutation on Chromosome X affecting OTC (ornithine transcarbamylase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ornithine carbamoyltransferase deficiency | CGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGC... | CGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGC... |
Task1_train_29607 | A mutation on Chromosome X affecting OTC (ornithine transcarbamylase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ornithine carbamoyltransferase deficiency | CGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGC... | CGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGC... |
Task1_train_29608 | The gene OTC (ornithine transcarbamylase) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCT... | GCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCT... |
Task1_train_29609 | A variant found in Chromosome X affects OTC (ornithine transcarbamylase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | CTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAA... | CTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAA... |
Task1_train_29610 | Given this variant in gene OTC (ornithine transcarbamylase) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Ornithine carbamoyltransferase deficiency | CACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATT... | CACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATT... |
Task1_train_29611 | Assess the clinical impact of this variant on gene OTC (ornithine transcarbamylase), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | CACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATT... | CACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATT... |
Task1_train_29612 | Consider a variant on Chromosome X in gene OTC (ornithine transcarbamylase). Determine its clinical classification and disease relevance. | Pathogenic; not provided | ACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTT... | ACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTT... |
Task1_train_29613 | Chromosome X houses a mutation in gene OTC (ornithine transcarbamylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTA... | CTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTA... |
Task1_train_29614 | A genetic alteration is present in OTC (ornithine transcarbamylase) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Ornithine carbamoyltransferase deficiency | CTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTC... | CTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTC... |
Task1_train_29615 | This mutation is located in gene OTC (ornithine transcarbamylase) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ornithine carbamoyltransferase deficiency | ATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTA... | ATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTA... |
Task1_train_29616 | Chromosome X houses a mutation in gene OTC (ornithine transcarbamylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAG... | TTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAG... |
Task1_train_29617 | A mutation in OTC (ornithine transcarbamylase), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | CCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCC... | CCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCC... |
Task1_train_29618 | A mutation on Chromosome X affecting OTC (ornithine transcarbamylase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ornithine carbamoyltransferase deficiency | CCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAA... | CCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAA... |
Task1_train_29619 | Mutation context: Chromosome X, Gene OTC (ornithine transcarbamylase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAA... | CTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAA... |
Task1_train_29620 | This gene mutation involves OTC (ornithine transcarbamylase) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ornithine carbamoyltransferase deficiency | TTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATT... | TTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATT... |
Task1_train_29621 | This alteration in OTC (ornithine transcarbamylase) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not specified | TTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTA... | TTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTA... |
Task1_train_29622 | The gene OTC (ornithine transcarbamylase) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Ornithine carbamoyltransferase deficiency | TTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTA... | TTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTA... |
Task1_train_29623 | This alteration occurs within gene OTC (ornithine transcarbamylase) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTA... | TTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTA... |
Task1_train_29624 | The gene OTC (ornithine transcarbamylase), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | AGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGG... | AGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGG... |
Task1_train_29625 | Located on Chromosome X, this mutation impacts OTC (ornithine transcarbamylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Ornithine carbamoyltransferase deficiency | CCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAA... | CCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAA... |
Task1_train_29626 | A mutation in OTC (ornithine transcarbamylase), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Inborn genetic diseases | CCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAA... | CCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAA... |
Task1_train_29627 | Consider a variant on Chromosome X in gene OTC (ornithine transcarbamylase). Determine its clinical classification and disease relevance. | Pathogenic; Ornithine carbamoyltransferase deficiency | TATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTG... | TATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTG... |
Task1_train_29628 | Here is a mutation in OTC (ornithine transcarbamylase) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ornithine carbamoyltransferase deficiency | TATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTG... | TATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTG... |
Task1_train_29629 | Gene OTC (ornithine transcarbamylase), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAA... | TCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAA... |
Task1_train_29630 | A genomic change on Chromosome X affects OTC (ornithine transcarbamylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ornithine carbamoyltransferase deficiency | TTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTT... | TTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTT... |
Task1_train_29631 | A variant affecting Chromosome X, within the gene OTC (ornithine transcarbamylase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAG... | TTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAG... |
Task1_train_29632 | A variant has been detected on Chromosome X in OTC (ornithine transcarbamylase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAGATT... | TGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAGATT... |
Task1_train_29633 | An alteration has been detected in OTC (ornithine transcarbamylase) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ornithine carbamoyltransferase deficiency | CAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAGATTCCT... | CAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAGATTCCT... |
Task1_train_29634 | A mutation on Chromosome X affecting OTC (ornithine transcarbamylase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | CCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAGATTCCTCTTG... | CCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAGATTCCTCTTG... |
Task1_train_29635 | A variant found in Chromosome X affects OTC (ornithine transcarbamylase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAGATTCCTCTTGTTTGGTTT... | TTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAGATTCCTCTTGTTTGGTTT... |
Task1_train_29636 | Gene OTC (ornithine transcarbamylase) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAGATTCCTCTTGTTTGGTTTG... | TTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAGATTCCTCTTGTTTGGTTTG... |
Task1_train_29637 | A genomic change on Chromosome X affects OTC (ornithine transcarbamylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAGATTCCTCTTGTTTGGTTTGCCAC... | CGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATATGCAGAATTTATAGAATTGGGGCTCAAATTTAGCCATTCTAGTCCTCCCAAATTAGGAACTTGAATAACTTTGAAAGATTCCTCTTGTTTGGTTTGCCAC... |
Task1_train_29638 | The gene OTC (ornithine transcarbamylase), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | AAGTCTCTTCATTTATGTTTACCAGTATGGCTGTTCACAACATTAGTTGCTAAATTAGCTAGCCTTTATTAATTACTTTCCCCAAATCTCTATAAACAAGGCTCCAGAATTCATGGCTATATGAGGGTGGTAAAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAG... | AAGTCTCTTCATTTATGTTTACCAGTATGGCTGTTCACAACATTAGTTGCTAAATTAGCTAGCCTTTATTAATTACTTTCCCCAAATCTCTATAAACAAGGCTCCAGAATTCATGGCTATATGAGGGTGGTAAAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAG... |
Task1_train_29639 | This is a variant in OTC (ornithine transcarbamylase), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | AGTCTCTTCATTTATGTTTACCAGTATGGCTGTTCACAACATTAGTTGCTAAATTAGCTAGCCTTTATTAATTACTTTCCCCAAATCTCTATAAACAAGGCTCCAGAATTCATGGCTATATGAGGGTGGTAAAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGG... | AGTCTCTTCATTTATGTTTACCAGTATGGCTGTTCACAACATTAGTTGCTAAATTAGCTAGCCTTTATTAATTACTTTCCCCAAATCTCTATAAACAAGGCTCCAGAATTCATGGCTATATGAGGGTGGTAAAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGG... |
Task1_train_29640 | Here is a variant affecting OTC (ornithine transcarbamylase) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Ornithine carbamoyltransferase deficiency | AGTCTCTTCATTTATGTTTACCAGTATGGCTGTTCACAACATTAGTTGCTAAATTAGCTAGCCTTTATTAATTACTTTCCCCAAATCTCTATAAACAAGGCTCCAGAATTCATGGCTATATGAGGGTGGTAAAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGG... | AGTCTCTTCATTTATGTTTACCAGTATGGCTGTTCACAACATTAGTTGCTAAATTAGCTAGCCTTTATTAATTACTTTCCCCAAATCTCTATAAACAAGGCTCCAGAATTCATGGCTATATGAGGGTGGTAAAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGG... |
Task1_train_29641 | Here is a variant affecting OTC (ornithine transcarbamylase) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Ornithine carbamoyltransferase deficiency | TATGGCTGTTCACAACATTAGTTGCTAAATTAGCTAGCCTTTATTAATTACTTTCCCCAAATCTCTATAAACAAGGCTCCAGAATTCATGGCTATATGAGGGTGGTAAAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATG... | TATGGCTGTTCACAACATTAGTTGCTAAATTAGCTAGCCTTTATTAATTACTTTCCCCAAATCTCTATAAACAAGGCTCCAGAATTCATGGCTATATGAGGGTGGTAAAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATG... |
Task1_train_29642 | Consider this mutation in OTC (ornithine transcarbamylase) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TAGTTGCTAAATTAGCTAGCCTTTATTAATTACTTTCCCCAAATCTCTATAAACAAGGCTCCAGAATTCATGGCTATATGAGGGTGGTAAAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAA... | TAGTTGCTAAATTAGCTAGCCTTTATTAATTACTTTCCCCAAATCTCTATAAACAAGGCTCCAGAATTCATGGCTATATGAGGGTGGTAAAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAA... |
Task1_train_29643 | This alteration in OTC (ornithine transcarbamylase) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TAGTTGCTAAATTAGCTAGCCTTTATTAATTACTTTCCCCAAATCTCTATAAACAAGGCTCCAGAATTCATGGCTATATGAGGGTGGTAAAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAA... | TAGTTGCTAAATTAGCTAGCCTTTATTAATTACTTTCCCCAAATCTCTATAAACAAGGCTCCAGAATTCATGGCTATATGAGGGTGGTAAAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAA... |
Task1_train_29644 | The gene OTC (ornithine transcarbamylase) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | AAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGA... | AAGCTGCTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGA... |
Task1_train_29645 | The gene OTC (ornithine transcarbamylase) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTC... | CTAAAATGTCTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTC... |
Task1_train_29646 | A mutation in OTC (ornithine transcarbamylase), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | CTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGA... | CTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGA... |
Task1_train_29647 | A genomic change on Chromosome X affects OTC (ornithine transcarbamylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ornithine carbamoyltransferase deficiency | CTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGA... | CTGCAGGCATCTTCATCAACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGA... |
Task1_train_29648 | This variant affects the gene OTC (ornithine transcarbamylase) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | AACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGT... | AACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGT... |
Task1_train_29649 | An alteration has been detected in OTC (ornithine transcarbamylase) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | AACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGT... | AACATCTGAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGT... |
Task1_train_29650 | A genetic alteration is present in OTC (ornithine transcarbamylase) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGT... | GAGTAGTTTCTTCTTTCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGT... |
Task1_train_29651 | This sequence change occurs on Chromosome X, altering OTC (ornithine transcarbamylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGT... | TCAAGAATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGT... |
Task1_train_29652 | This sequence change occurs on Chromosome X, altering OTC (ornithine transcarbamylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | ATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTT... | ATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTT... |
Task1_train_29653 | A variant was discovered on Chromosome X, affecting OTC (ornithine transcarbamylase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | ATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTT... | ATGCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTT... |
Task1_train_29654 | With a mutation on Chromosome X in gene OTC (ornithine transcarbamylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | GCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTT... | GCTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTT... |
Task1_train_29655 | Consider this mutation in OTC (ornithine transcarbamylase) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; OTC-related disorder | CTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTC... | CTTTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTC... |
Task1_train_29656 | This gene mutation involves OTC (ornithine transcarbamylase) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ornithine carbamoyltransferase deficiency | TTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCAT... | TTAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCAT... |
Task1_train_29657 | This alteration in OTC (ornithine transcarbamylase) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATA... | TAATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATA... |
Task1_train_29658 | This variant affects the gene OTC (ornithine transcarbamylase) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; OTC-related disorder | ATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACC... | ATAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACC... |
Task1_train_29659 | A variant affecting Chromosome X, within the gene OTC (ornithine transcarbamylase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCC... | TAGAAGAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCC... |
Task1_train_29660 | A genetic alteration is present in OTC (ornithine transcarbamylase) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTG... | GAAGAAACTATGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTG... |
Task1_train_29661 | Located on Chromosome X, this mutation impacts OTC (ornithine transcarbamylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | TGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCC... | TGGTAGACAATCATGTGCAAATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCC... |
Task1_train_29662 | This alteration occurs within gene OTC (ornithine transcarbamylase) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Ornithine carbamoyltransferase deficiency | ATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCCATTGAATGTGGGTTGCCCCA... | ATAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCCATTGAATGTGGGTTGCCCCA... |
Task1_train_29663 | The gene OTC (ornithine transcarbamylase) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Ornithine carbamoyltransferase deficiency | TAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCCATTGAATGTGGGTTGCCCCAA... | TAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCCATTGAATGTGGGTTGCCCCAA... |
Task1_train_29664 | A mutation on Chromosome X affecting OTC (ornithine transcarbamylase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not specified | TAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCCATTGAATGTGGGTTGCCCCAA... | TAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCCATTGAATGTGGGTTGCCCCAA... |
Task1_train_29665 | Here’s a variant in OTC (ornithine transcarbamylase) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | TAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCCATTGAATGTGGGTTGCCCCAA... | TAAACACAATTTCACAAATAAACCTAGACATGCCTGTCACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCCATTGAATGTGGGTTGCCCCAA... |
Task1_train_29666 | Located on Chromosome X, this mutation impacts OTC (ornithine transcarbamylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | CACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCCATTGAATGTGGGTTGCCCCAAAAGGGTGTGTGACCTTGGGTGCGGCTGCTCTCTGCAG... | CACAGGTTGGGTTTCTTGGGAAGCAGACTCAGAGTTTAGTGTGCAGGACAGGCAGGATGCTTATTAGCATGTGCCCTTGAAATCAACAACTGTGGAAAGGAAGGGAAGGAAGCAGGAGTAAGAGGGAGAAGCTGAGTTGCGATGCAGACCCAACAACAGCCTTGGCTGATCTTATGGAAAGTTCTGGATCTGAGATGTCCATTCATCTGTCTGGAGTTGGGCAGAGGAGGGTCAGGTTTTCATACCCTCCTGTCAATCAGCCATTGAATGTGGGTTGCCCCAAAAGGGTGTGTGACCTTGGGTGCGGCTGCTCTCTGCAG... |
Task1_train_29667 | Here is a variant affecting OTC (ornithine transcarbamylase) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | ATATAAAATAGAACAGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGG... | ATATAAAATAGAACAGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGG... |
Task1_train_29668 | Assess the clinical impact of this variant on gene OTC (ornithine transcarbamylase), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | AACAGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTT... | AACAGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTT... |
Task1_train_29669 | Given a variant located on Chromosome X and affecting OTC (ornithine transcarbamylase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | ACAGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTA... | ACAGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTA... |
Task1_train_29670 | A mutation found in OTC (ornithine transcarbamylase) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | ACAGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTA... | ACAGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTA... |
Task1_train_29671 | This alteration in OTC (ornithine transcarbamylase) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | CAGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTAC... | CAGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTAC... |
Task1_train_29672 | The variant affects gene OTC (ornithine transcarbamylase), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | AGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACT... | AGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACT... |
Task1_train_29673 | The variant affects gene OTC (ornithine transcarbamylase), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ornithine carbamoyltransferase deficiency | AGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACT... | AGAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACT... |
Task1_train_29674 | Here is a variant affecting OTC (ornithine transcarbamylase) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | GAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTT... | GAAGTTTGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTT... |
Task1_train_29675 | Assess the clinical impact of this variant on gene OTC (ornithine transcarbamylase), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATG... | TGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATG... |
Task1_train_29676 | This variant affects the gene OTC (ornithine transcarbamylase) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Ornithine carbamoyltransferase deficiency | TGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATG... | TGAAAAATAAAAAGTAAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATG... |
Task1_train_29677 | A change on Chromosome X affects gene OTC (ornithine transcarbamylase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | AAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAA... | AAAAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAA... |
Task1_train_29678 | This alteration occurs within gene OTC (ornithine transcarbamylase) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Ornithine carbamoyltransferase deficiency | AAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATT... | AAATGTCTTTCTCCCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATT... |
Task1_train_29679 | Gene OTC (ornithine transcarbamylase) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ornithine carbamoyltransferase deficiency | CCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGA... | CCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGA... |
Task1_train_29680 | An alteration has been detected in OTC (ornithine transcarbamylase) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ornithine carbamoyltransferase deficiency | CCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGA... | CCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGA... |
Task1_train_29681 | This mutation is located in gene OTC (ornithine transcarbamylase) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ornithine carbamoyltransferase deficiency | CCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGA... | CCATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGA... |
Task1_train_29682 | This gene mutation involves OTC (ornithine transcarbamylase) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ornithine carbamoyltransferase deficiency | ATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGAGA... | ATCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGAGA... |
Task1_train_29683 | The gene OTC (ornithine transcarbamylase) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | TCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGAGAA... | TCTCTTTAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGAGAA... |
Task1_train_29684 | A change on Chromosome X affects gene OTC (ornithine transcarbamylase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | TAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGAGAATGCCGA... | TAACAGAGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGAGAATGCCGA... |
Task1_train_29685 | Gene OTC (ornithine transcarbamylase), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ornithine carbamoyltransferase deficiency | AGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGAGAATGCCGATTACAA... | AGACTATTCCTAGAGGTAGCCTCTGTTTAATAATTTGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGAGAATGCCGATTACAA... |
Task1_train_29686 | A variant affecting Chromosome X, within the gene OTC (ornithine transcarbamylase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGAGAATGCCGATTACAAAAATGCTGCAATGAACTTGCTTATCCATATTTCTT... | TGATGTGTCTCTTTGCAGACCTTTTCTGTGCATTTACATATGTATGCCTCAATACACACATAACTATTGATTTTTTTGTAAATGATATTTTAGACATTACTTATTTATTTATTATTATTCTTACTTTTTCCACTTAACAAATCTTAGATTTTCTTGCTCACTCATTTAGATATTTTTTATTCTTTTTAGTTGCTGCATAGAATTCCAAAGGATAAGTGGAACCATAATTTACTTAAAATGTTTCCTATTGATAAATTAGGCTATTTCTGAGAATGCCGATTACAAAAATGCTGCAATGAACTTGCTTATCCATATTTCTT... |
Task1_train_29687 | A genetic alteration is present in OTC (ornithine transcarbamylase) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TATATTTAAGTCTTTAATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTG... | TATATTTAAGTCTTTAATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTG... |
Task1_train_29688 | Gene OTC (ornithine transcarbamylase), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ATTTAAGTCTTTAATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTC... | ATTTAAGTCTTTAATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTC... |
Task1_train_29689 | Here’s a variant in OTC (ornithine transcarbamylase) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ornithine carbamoyltransferase deficiency | ATTTAAGTCTTTAATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTC... | ATTTAAGTCTTTAATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTC... |
Task1_train_29690 | Gene OTC (ornithine transcarbamylase) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ornithine carbamoyltransferase deficiency | GTCTTTAATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATT... | GTCTTTAATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATT... |
Task1_train_29691 | This mutation occurs in OTC (ornithine transcarbamylase) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | GTCTTTAATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATT... | GTCTTTAATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATT... |
Task1_train_29692 | Here’s a variant in OTC (ornithine transcarbamylase) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | TTTAATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCT... | TTTAATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCT... |
Task1_train_29693 | This genomic variant is located on Chromosome X, within the OTC (ornithine transcarbamylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | ATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTAT... | ATCCATTTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTAT... |
Task1_train_29694 | This variant affects gene OTC (ornithine transcarbamylase) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | TTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTATCTATGT... | TTTGAGTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTATCTATGT... |
Task1_train_29695 | This variant impacts the gene OTC (ornithine transcarbamylase) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Ornithine carbamoyltransferase deficiency | GTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTATCTATGTGGGTT... | GTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTATCTATGTGGGTT... |
Task1_train_29696 | A genomic change on Chromosome X affects OTC (ornithine transcarbamylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ornithine carbamoyltransferase deficiency | GTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTATCTATGTGGGTT... | GTTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTATCTATGTGGGTT... |
Task1_train_29697 | The gene OTC (ornithine transcarbamylase) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTATCTATGTGGGTTC... | TTGATTTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTATCTATGTGGGTTC... |
Task1_train_29698 | Given this context: Chromosome X, gene OTC (ornithine transcarbamylase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTATCTATGTGGGTTCTTTGT... | TTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTATCTATGTGGGTTCTTTGT... |
Task1_train_29699 | A variant found in Chromosome X affects OTC (ornithine transcarbamylase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Ornithine carbamoyltransferase deficiency | TTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTATCTATGTGGGTTCTTTGT... | TTTTATATGGTGTGAGACAAGGGTCCAATTTTATTTTTCTGCATGTGGATATCCAGTTTTCTCAACACCATTTGCTGAAGAGACTGTCCTTTCCCCATTATGTGTTCTTGGCACCTCTGTCAAAAAGCAATTGACCATAAATGCATGGGTTCATTTCTGGGCTTTCCTTACTGTTTTGTTGGTTAATGTGTCTGTTTTTATGACAGTACCGTGTGGTTTTTATTAAAATGTCTTTATAATATGTTTTAAAATCAAGGAGTGTGATGCTGCCAGCTTTCTTCCTTTTGTTCAAGATTGCTTTATCTATGTGGGTTCTTTGT... |
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