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_29500 | 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 | AATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCT... | AATGATGAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCT... |
Task1_train_29501 | 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 | GAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCC... | GAGAGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCC... |
Task1_train_29502 | 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 | AGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCA... | AGAAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCA... |
Task1_train_29503 | 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; Ornithine carbamoyltransferase deficiency | AAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATG... | AAAGATGATGTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATG... |
Task1_train_29504 | Consider a variant on Chromosome X in gene OTC (ornithine transcarbamylase). Determine its clinical classification and disease relevance. | Pathogenic; Ornithine carbamoyltransferase deficiency | GTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATA... | GTCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATA... |
Task1_train_29505 | 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 | TCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATAC... | TCCATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATAC... |
Task1_train_29506 | This sequence variant lies in OTC (ornithine transcarbamylase) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | ATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATACTCT... | ATTTTATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATACTCT... |
Task1_train_29507 | 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 | ATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATACTCTTCCTT... | ATAGAATGATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATACTCTTCCTT... |
Task1_train_29508 | 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 | GATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATACTCTTCCTTCACTTCA... | GATTACCGCAAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATACTCTTCCTTCACTTCA... |
Task1_train_29509 | 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; not provided | AAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATACTCTTCCTTCACTTCAAGCCCAACA... | AAATAACAATTATTGTCATCACAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATACTCTTCCTTCACTTCAAGCCCAACA... |
Task1_train_29510 | A variant was discovered in gene OTC (ornithine transcarbamylase), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | CAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATACTCTTCCTTCACTTCAAGCCCAACAAAATGGCTCCACTAGGGCCCA... | CAATATAACAAAATGTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATACTCTTCCTTCACTTCAAGCCCAACAAAATGGCTCCACTAGGGCCCA... |
Task1_train_29511 | This is a variant in OTC (ornithine transcarbamylase), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Ornithine carbamoyltransferase deficiency | GTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATACTCTTCCTTCACTTCAAGCCCAACAAAATGGCTCCACTAGGGCCCACAGTAAACTGATGT... | GTTAAAATTGATCTTTTTCGGTTTTGGTTTCTGTCCAGGCCCAGTAGGTACTGATTCTTCCCTCATTCTAAAGAGATGCTAGACCACTAAAAATGGAATTGCAAAGGAAATAGACAAAATTCAGTTTGGAATCCCTTAGTTACCACCTTCAGCTTATAAAATGTGTTGCAGAAACCAAGAGAGGGGTTGGAAATTAGAAGATAATTTATAGAGAGTGTTTCTATTGTGTATCATGTGCCTCCTCCCCCATGAAGGGGATACTCTTCCTTCACTTCAAGCCCAACAAAATGGCTCCACTAGGGCCCACAGTAAACTGATGT... |
Task1_train_29512 | 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 | CCCAGGCTGGAGTGCATTGGCGTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATG... | CCCAGGCTGGAGTGCATTGGCGTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATG... |
Task1_train_29513 | This is a variant in OTC (ornithine transcarbamylase), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Ornithine carbamoyltransferase deficiency | GGCTGGAGTGCATTGGCGTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGG... | GGCTGGAGTGCATTGGCGTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGG... |
Task1_train_29514 | 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 | GAGTGCATTGGCGTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGG... | GAGTGCATTGGCGTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGG... |
Task1_train_29515 | 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 | GTGCATTGGCGTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCG... | GTGCATTGGCGTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCG... |
Task1_train_29516 | 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 | GCATTGGCGTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCA... | GCATTGGCGTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCA... |
Task1_train_29517 | 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 | CGTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTC... | CGTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTC... |
Task1_train_29518 | 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 | GTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCA... | GTGATCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCA... |
Task1_train_29519 | This alteration in OTC (ornithine transcarbamylase) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ornithine carbamoyltransferase deficiency | TCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATC... | TCACTGCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATC... |
Task1_train_29520 | This variant impacts the gene OTC (ornithine transcarbamylase) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGC... | GCAACTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGC... |
Task1_train_29521 | 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 | CTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTT... | CTTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTT... |
Task1_train_29522 | 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 | TTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTA... | TTCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTA... |
Task1_train_29523 | 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 | TCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAG... | TCTGCCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAG... |
Task1_train_29524 | A variant was discovered in gene OTC (ornithine transcarbamylase), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | CCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAG... | CCTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAG... |
Task1_train_29525 | A sequence alteration has been identified in OTC (ornithine transcarbamylase) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Ornithine carbamoyltransferase deficiency | CTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGG... | CTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGG... |
Task1_train_29526 | 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 | CTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGG... | CTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGG... |
Task1_train_29527 | 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 | CTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGG... | CTCCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGG... |
Task1_train_29528 | 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 | CCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGGCC... | CCCAGGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGGCC... |
Task1_train_29529 | 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; Ornithine carbamoyltransferase deficiency | GGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGGCCAGGC... | GGTTCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGGCCAGGC... |
Task1_train_29530 | 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 | TCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGGCCAGGCAGG... | TCAAGGAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGGCCAGGCAGG... |
Task1_train_29531 | 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; Ornithine carbamoyltransferase deficiency | CGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGGCCAGGCAGGCAAATCACCTGAGG... | CGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCACCTTGGCATCCCAAAGTGCTGGGATCACAGGAGTGAGCCACCGTGCCCGGCCAAGATTTTATTTTTATACCCCTTTTCTTTTCTCTGTGTATTTTCTATCAAGTCAAAAATGAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTAGGGAGGCCAGGCAGGCAAATCACCTGAGG... |
Task1_train_29532 | 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; not provided | TGGCAAGGCCTAGGGCTGTGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCT... | TGGCAAGGCCTAGGGCTGTGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCT... |
Task1_train_29533 | 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 | GGCCTAGGGCTGTGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGT... | GGCCTAGGGCTGTGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGT... |
Task1_train_29534 | 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 | CTGTGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGAT... | CTGTGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGAT... |
Task1_train_29535 | 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 | GTGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTT... | GTGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTT... |
Task1_train_29536 | 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 | TGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTT... | TGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTT... |
Task1_train_29537 | 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 | TGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTT... | TGGAGACTTAAAAACAATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTT... |
Task1_train_29538 | 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; Ornithine carbamoyltransferase deficiency | AATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTC... | AATCTTGCGCAATTTTTTAGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTC... |
Task1_train_29539 | 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 | AGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTCTTTTTGGAGATGGAGTCT... | AGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTCTTTTTGGAGATGGAGTCT... |
Task1_train_29540 | 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 | AGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTCTTTTTGGAGATGGAGTCT... | AGACTCTGACTCTCAGAACCCTTTTCTATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTCTTTTTGGAGATGGAGTCT... |
Task1_train_29541 | 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 | ATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTCTTTTTGGAGATGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAG... | ATAAAATTCTTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTCTTTTTGGAGATGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAG... |
Task1_train_29542 | This sequence variant lies in OTC (ornithine transcarbamylase) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ornithine carbamoyltransferase deficiency | TTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTCTTTTTGGAGATGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGCGCGAT... | TTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTCTTTTTGGAGATGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGCGCGAT... |
Task1_train_29543 | 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 | TTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTCTTTTTGGAGATGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGCGCGAT... | TTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTCTTTTTGGAGATGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGCGCGAT... |
Task1_train_29544 | 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 | TTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTCTTTTTGGAGATGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGCGCGAT... | TTGTAATATCTACTGTACACTTTGTCAGACTAAGGGATTCAATGAAAGAATGTTAATAATGTGCCATCATATGATTATGCTCTGTGAAGAGTCATTGCTAGGGTCAGAACATGGTGGTCTCTAGTTAAAGACCATTTGGTCTAGGCATATTTAAGAGAACACTTTTGAGTATAAAATAGGTAGACTATAATTATTTAATTTTATATACAGTAACAGAAATGAGGACCATTGCTTTGTGTGGGTTTGATTTTTAATATTTTTTTTTCTTTTTGGAGATGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGCGCGAT... |
Task1_train_29545 | 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 | CTGGGTGGGGCCTGAAATTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGAC... | CTGGGTGGGGCCTGAAATTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGAC... |
Task1_train_29546 | Here is a genetic alteration in OTC (ornithine transcarbamylase) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GGGTGGGGCCTGAAATTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCA... | GGGTGGGGCCTGAAATTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCA... |
Task1_train_29547 | 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 | GGTGGGGCCTGAAATTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAG... | GGTGGGGCCTGAAATTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAG... |
Task1_train_29548 | A variant was discovered in gene OTC (ornithine transcarbamylase), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | GGTGGGGCCTGAAATTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAG... | GGTGGGGCCTGAAATTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAG... |
Task1_train_29549 | 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; not provided | TGAAATTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAA... | TGAAATTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAA... |
Task1_train_29550 | Consider this mutation in OTC (ornithine transcarbamylase) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Ornithine carbamoyltransferase deficiency | AATTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAT... | AATTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAT... |
Task1_train_29551 | This mutation occurs in OTC (ornithine transcarbamylase) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Inborn genetic diseases | TTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGA... | TTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGA... |
Task1_train_29552 | 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 specified | TTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGA... | TTCTGAAGATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGA... |
Task1_train_29553 | 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; Ornithine carbamoyltransferase deficiency | GATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACC... | GATCTAATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACC... |
Task1_train_29554 | This gene mutation involves OTC (ornithine transcarbamylase) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTC... | AATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTC... |
Task1_train_29555 | 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; Ornithine carbamoyltransferase deficiency | ATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCT... | ATATGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCT... |
Task1_train_29556 | 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 | TGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTA... | TGCTCTCAGATGATGCTGATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTA... |
Task1_train_29557 | 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 | ATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTA... | ATGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTA... |
Task1_train_29558 | 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; Ornithine carbamoyltransferase deficiency | TGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAG... | TGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAG... |
Task1_train_29559 | A sequence alteration has been identified in OTC (ornithine transcarbamylase) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; not provided | TGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAG... | TGTTGCTACTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAG... |
Task1_train_29560 | 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 | CTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGT... | CTCTGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGT... |
Task1_train_29561 | 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; not provided | TGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGT... | TGAGGGGCAAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGT... |
Task1_train_29562 | 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 | AAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCC... | AAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCC... |
Task1_train_29563 | This gene mutation involves OTC (ornithine transcarbamylase) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCC... | AAGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCC... |
Task1_train_29564 | 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 | AGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCT... | AGGTGCTAGCTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCT... |
Task1_train_29565 | 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; Ornithine carbamoyltransferase deficiency | CTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTA... | CTTTGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTA... |
Task1_train_29566 | 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 | TGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCT... | TGGTTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCT... |
Task1_train_29567 | This variant lies on Chromosome X and affects the gene OTC (ornithine transcarbamylase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACT... | TTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACT... |
Task1_train_29568 | 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 | TTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACT... | TTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACT... |
Task1_train_29569 | A sequence alteration has been identified in OTC (ornithine transcarbamylase) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; not provided | TTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACT... | TTCTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACT... |
Task1_train_29570 | 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 | CTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTG... | CTCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTG... |
Task1_train_29571 | 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 | TCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGG... | TCAACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGG... |
Task1_train_29572 | This mutation occurs in OTC (ornithine transcarbamylase) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Ornithine carbamoyltransferase deficiency | AACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGA... | AACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGA... |
Task1_train_29573 | A variant affecting Chromosome X, within the gene OTC (ornithine transcarbamylase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ornithine carbamoyltransferase deficiency | AACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGA... | AACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGA... |
Task1_train_29574 | 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 | ACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAG... | ACTTTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAG... |
Task1_train_29575 | 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; Ornithine carbamoyltransferase deficiency | TTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCT... | TTGGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCT... |
Task1_train_29576 | This sequence variant lies in OTC (ornithine transcarbamylase) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | GGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAA... | GGCAGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAA... |
Task1_train_29577 | 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 | AGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGT... | AGCACGTTACAATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGT... |
Task1_train_29578 | This sequence variant lies in OTC (ornithine transcarbamylase) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | AATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCG... | AATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCG... |
Task1_train_29579 | Here is a genetic alteration in OTC (ornithine transcarbamylase) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ornithine carbamoyltransferase deficiency | AATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCG... | AATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCG... |
Task1_train_29580 | 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 | ATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGA... | ATATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGA... |
Task1_train_29581 | 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; Ornithine carbamoyltransferase deficiency | TATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGAT... | TATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGAT... |
Task1_train_29582 | 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 | ATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATT... | ATAGTAAGAATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATT... |
Task1_train_29583 | Gene OTC (ornithine transcarbamylase), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGG... | AATATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGG... |
Task1_train_29584 | 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 | TATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGA... | TATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGA... |
Task1_train_29585 | A variant was discovered in gene OTC (ornithine transcarbamylase), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Ornithine carbamoyltransferase deficiency | ATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAG... | ATTTTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAG... |
Task1_train_29586 | 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 | TTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAG... | TTTAAAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAG... |
Task1_train_29587 | 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 | AAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGG... | AAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGG... |
Task1_train_29588 | 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 | AAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGG... | AAAATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGG... |
Task1_train_29589 | 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 | AATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGGTT... | AATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGGTT... |
Task1_train_29590 | Here is a genetic alteration in OTC (ornithine transcarbamylase) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | ATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGGTTG... | ATAATGATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGGTTG... |
Task1_train_29591 | 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; Ornithine carbamoyltransferase deficiency | ATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGGTTGCAGTGA... | ATCCCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGGTTGCAGTGA... |
Task1_train_29592 | A variant was discovered in gene OTC (ornithine transcarbamylase), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | CCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGGTTGCAGTGAGTT... | CCTAGGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGGTTGCAGTGAGTT... |
Task1_train_29593 | 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 | GGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGGTTGCAGTGAGTTGAGA... | GGTCCCACTCCTAGAGATTTTGATTTTTCTGATTTAATTGATAGAGAATATGGCCTGGGCATCAAGAGTTTAAAAAACTCTCCAAGTTGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGAGCCTGTAATCCTAGCTACTTGGGAGGCTAAGGTGAGAGAATCGATTGTACCTGGGAGGAGGGGGTTGCAGTGAGTTGAGA... |
Task1_train_29594 | 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 | TTTTCTGGGGAAAACAGGACATTGTTAAAAACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTA... | TTTTCTGGGGAAAACAGGACATTGTTAAAAACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTA... |
Task1_train_29595 | Consider a variant on Chromosome X in gene OTC (ornithine transcarbamylase). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TCTGGGGAAAACAGGACATTGTTAAAAACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTT... | TCTGGGGAAAACAGGACATTGTTAAAAACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTT... |
Task1_train_29596 | 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 | TGGGGAAAACAGGACATTGTTAAAAACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAA... | TGGGGAAAACAGGACATTGTTAAAAACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAA... |
Task1_train_29597 | 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; Ornithine carbamoyltransferase deficiency | GGGGAAAACAGGACATTGTTAAAAACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAA... | GGGGAAAACAGGACATTGTTAAAAACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAA... |
Task1_train_29598 | 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 | ATTGTTAAAAACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAAT... | ATTGTTAAAAACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAAT... |
Task1_train_29599 | 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 | TTGTTAAAAACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATA... | TTGTTAAAAACAGACTCTAAGATCGCTCTGCACTCAACCCTATTCCCAAACCCTTTTAGCCCATATCTCATCTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGAGAACACTGGAGCATACAAAATGGACAAGCCATATGTGATTCTATAGACATCAGGTCTGTGGCTTGGGAGTGAAGACTGGTGGAGTGTGCTTTGAATATTCAAAAAGGTTAGTTACTAAGTCACTCTGGAAGAGGGGGACACTTTCTATCATTTTAATAAACTGGTTATTTAAAGTAGGGTTAAGAATA... |
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