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_12600 | The gene GLIS3 (GLIS family zinc finger 3) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neonatal diabetes mellitus with congenital hypothyroidism | ATTGCAGCATTAATCAGCTCCTAAGAAACCCTGTTTATTATGTGCACTATTACATGTGTAAATAAATGCTTTGTGGTCCTAGATTCGATACACTGTTAAATCATCAATCTGAATTTTATAAAGATTCCACCTAGAAGTGGGGAGTGGGCAGATCAGAGGAAGAGAAATCATCTCCCATACCCATTCTGAACAATACAATGAGAAGCTATGCATAAGCCTGCGAACATTAACCTATCAGCTTATTCTTTCACTGAAGTATTTATATTTTTGATATTTATCGTGCACTTCAGCAAAAATCAACTTTAAAAAGTTATATGTCT... | ATTGCAGCATTAATCAGCTCCTAAGAAACCCTGTTTATTATGTGCACTATTACATGTGTAAATAAATGCTTTGTGGTCCTAGATTCGATACACTGTTAAATCATCAATCTGAATTTTATAAAGATTCCACCTAGAAGTGGGGAGTGGGCAGATCAGAGGAAGAGAAATCATCTCCCATACCCATTCTGAACAATACAATGAGAAGCTATGCATAAGCCTGCGAACATTAACCTATCAGCTTATTCTTTCACTGAAGTATTTATATTTTTGATATTTATCGTGCACTTCAGCAAAAATCAACTTTAAAAAGTTATATGTCT... |
Task1_train_12601 | A variant affecting Chromosome 9, within the gene GLIS3 (GLIS family zinc finger 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neonatal diabetes mellitus with congenital hypothyroidism | TGGTCCTAGATTCGATACACTGTTAAATCATCAATCTGAATTTTATAAAGATTCCACCTAGAAGTGGGGAGTGGGCAGATCAGAGGAAGAGAAATCATCTCCCATACCCATTCTGAACAATACAATGAGAAGCTATGCATAAGCCTGCGAACATTAACCTATCAGCTTATTCTTTCACTGAAGTATTTATATTTTTGATATTTATCGTGCACTTCAGCAAAAATCAACTTTAAAAAGTTATATGTCTTTGCAAAGCCTGGCAACAGTAGAAAAATGGGGAAATCCTATTGCACAAAAATTAATTTTGCAATGCAAAAAAT... | TGGTCCTAGATTCGATACACTGTTAAATCATCAATCTGAATTTTATAAAGATTCCACCTAGAAGTGGGGAGTGGGCAGATCAGAGGAAGAGAAATCATCTCCCATACCCATTCTGAACAATACAATGAGAAGCTATGCATAAGCCTGCGAACATTAACCTATCAGCTTATTCTTTCACTGAAGTATTTATATTTTTGATATTTATCGTGCACTTCAGCAAAAATCAACTTTAAAAAGTTATATGTCTTTGCAAAGCCTGGCAACAGTAGAAAAATGGGGAAATCCTATTGCACAAAAATTAATTTTGCAATGCAAAAAAT... |
Task1_train_12602 | The gene SLC1A1 (solute carrier family 1 member 1) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Dicarboxylic aminoaciduria | GCCTAATGAGCCACCTGTTGCTGCTTTAATTTTCCTCTGACCAGGCCATCTGATAACATGCCTAAAAATTAACTCCTCATAACGTGGAGCAGTGATTTTAAAAAGCCGGTGAGCTCCATTAGCTCATTATACCTGGTAACACTCAAGCTTAGGAGCTGGGTGTGGGACAGAGATAAACACAGAACAAGGTGAGAAGCCAGGCAGGGCCCCAGAGCCATCCTGACCTATCCCAGCCCTGGTTCAGCATCATAGGCTCAGAACCACCTAGTTCAAAATCAGTCCGTCTTCCTAAGCATCTTCCGAACCATCAGGGACAGTGG... | GCCTAATGAGCCACCTGTTGCTGCTTTAATTTTCCTCTGACCAGGCCATCTGATAACATGCCTAAAAATTAACTCCTCATAACGTGGAGCAGTGATTTTAAAAAGCCGGTGAGCTCCATTAGCTCATTATACCTGGTAACACTCAAGCTTAGGAGCTGGGTGTGGGACAGAGATAAACACAGAACAAGGTGAGAAGCCAGGCAGGGCCCCAGAGCCATCCTGACCTATCCCAGCCCTGGTTCAGCATCATAGGCTCAGAACCACCTAGTTCAAAATCAGTCCGTCTTCCTAAGCATCTTCCGAACCATCAGGGACAGTGG... |
Task1_train_12603 | The gene INSL6, JAK2 (insulin like 6| Janus kinase 2) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Acute myeloid leukemia | TATCTGAGCTCTATAAGGAGACAATAGATAGAATTAGCCAGAATGGTAAAGACAAGCATCTTCATGTGAGTAACAGGAAACAGAGTGGCCAGGTAACTTGACTAACATTACAAATCTAATAAATAGTAGACCTTGGATTTGAACACAAGCAGCCTTACTGCAGAGTGCAGGCTTTCAACAATTACTTTGTAAAGATATGCAAGAAATACTAGTATTAGTAGTAATAGCTGATACTTAATGCACATTTACTATGTGTCATGGACTGTGCTAAGTGCTTTTATGTATTTATTCACTTATTGATCATAACAATCCTATGGGAA... | TATCTGAGCTCTATAAGGAGACAATAGATAGAATTAGCCAGAATGGTAAAGACAAGCATCTTCATGTGAGTAACAGGAAACAGAGTGGCCAGGTAACTTGACTAACATTACAAATCTAATAAATAGTAGACCTTGGATTTGAACACAAGCAGCCTTACTGCAGAGTGCAGGCTTTCAACAATTACTTTGTAAAGATATGCAAGAAATACTAGTATTAGTAGTAATAGCTGATACTTAATGCACATTTACTATGTGTCATGGACTGTGCTAAGTGCTTTTATGTATTTATTCACTTATTGATCATAACAATCCTATGGGAA... |
Task1_train_12604 | Here is a genetic alteration in INSL6, JAK2 (insulin like 6| Janus kinase 2) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Thrombocythemia 3 | TAGAATTAGCCAGAATGGTAAAGACAAGCATCTTCATGTGAGTAACAGGAAACAGAGTGGCCAGGTAACTTGACTAACATTACAAATCTAATAAATAGTAGACCTTGGATTTGAACACAAGCAGCCTTACTGCAGAGTGCAGGCTTTCAACAATTACTTTGTAAAGATATGCAAGAAATACTAGTATTAGTAGTAATAGCTGATACTTAATGCACATTTACTATGTGTCATGGACTGTGCTAAGTGCTTTTATGTATTTATTCACTTATTGATCATAACAATCCTATGGGAAAATAGTTATTATTCTCATTTTTCAGATG... | TAGAATTAGCCAGAATGGTAAAGACAAGCATCTTCATGTGAGTAACAGGAAACAGAGTGGCCAGGTAACTTGACTAACATTACAAATCTAATAAATAGTAGACCTTGGATTTGAACACAAGCAGCCTTACTGCAGAGTGCAGGCTTTCAACAATTACTTTGTAAAGATATGCAAGAAATACTAGTATTAGTAGTAATAGCTGATACTTAATGCACATTTACTATGTGTCATGGACTGTGCTAAGTGCTTTTATGTATTTATTCACTTATTGATCATAACAATCCTATGGGAAAATAGTTATTATTCTCATTTTTCAGATG... |
Task1_train_12605 | A change on Chromosome 9 affects gene RIC1 (RIC1 homolog, RAB6A GEF complex partner 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Catifa syndrome | ATGTTTTTTATTTCATCAATAAAAATTGTGGACATTTGCTTTTTCTCTTGCTATATAAGTTCCTACATAATATCCTTGATTTTGCCTCTTGGCCTTAAAAGCTTGTAGTATTTACTATCTGGTGCTTTTACAAAAAAATGTACACCAACCTCTGCTCTGTAGTAATGGGTAAATCACAAACTGAAGAGGTTTTGAAGCAATTTGTGTTGGCATAGGGTTATATAGTATAGGAGCTTAAACAACAATTTGTCTGAGTTTGCAGTTTTTTTAGTGGCCAGGCATTTGTCTAATGTTTGATTATCAGTCTGTCATCACTATTA... | ATGTTTTTTATTTCATCAATAAAAATTGTGGACATTTGCTTTTTCTCTTGCTATATAAGTTCCTACATAATATCCTTGATTTTGCCTCTTGGCCTTAAAAGCTTGTAGTATTTACTATCTGGTGCTTTTACAAAAAAATGTACACCAACCTCTGCTCTGTAGTAATGGGTAAATCACAAACTGAAGAGGTTTTGAAGCAATTTGTGTTGGCATAGGGTTATATAGTATAGGAGCTTAAACAACAATTTGTCTGAGTTTGCAGTTTTTTTAGTGGCCAGGCATTTGTCTAATGTTTGATTATCAGTCTGTCATCACTATTA... |
Task1_train_12606 | Given this context: Chromosome 9, gene GLDC (glycine decarboxylase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Glycine encephalopathy | CCAGGATAGCCTCTATGACATCTGCAAACTTGCCACATTAAAAGTTAAAGTTCCTAAAACTTTCTACGCAAAACACAAAATGGCTCCCAATCCAGGCAACTGGCACATGTGGAAGCAGAATACCAAAGCAAATCCGTCTTCCAACCATCAGCTTCGACTCCCTCCAGCTACTGTATTTACATTTACCTTGACAGAGATTACAGAGATATACACAGTATATAAAACTCCTACTTGAGGCTGGGGTGGGAGATGAAATCTTTCTTGCTTATCAAATGCTCTGGGGAGAGGCATCAAATCAGTCCTTTAAACTTAGGGACAGA... | CCAGGATAGCCTCTATGACATCTGCAAACTTGCCACATTAAAAGTTAAAGTTCCTAAAACTTTCTACGCAAAACACAAAATGGCTCCCAATCCAGGCAACTGGCACATGTGGAAGCAGAATACCAAAGCAAATCCGTCTTCCAACCATCAGCTTCGACTCCCTCCAGCTACTGTATTTACATTTACCTTGACAGAGATTACAGAGATATACACAGTATATAAAACTCCTACTTGAGGCTGGGGTGGGAGATGAAATCTTTCTTGCTTATCAAATGCTCTGGGGAGAGGCATCAAATCAGTCCTTTAAACTTAGGGACAGA... |
Task1_train_12607 | This variant impacts the gene GLDC (glycine decarboxylase) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Glycine encephalopathy | CGGGAGGCTGAGGTAGGAGAATGGCGTGAACCCAGGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGCATCATTTTGTTTCCTCTCCTCTCCAATGAATACAGGATTTACCATTCTCATTATGTTTTTATACTATTACTGCATAGATCCATAAACAGCACATAGCATAATTTGGCACATTTTTAGCCTTCTCCCTACCTCACTCAAACAGACTACACAGAACCTTCTCCTCCATATAAGAATCAGAAAGGAAAGGAAGGTTGCACTGGG... | CGGGAGGCTGAGGTAGGAGAATGGCGTGAACCCAGGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGCATCATTTTGTTTCCTCTCCTCTCCAATGAATACAGGATTTACCATTCTCATTATGTTTTTATACTATTACTGCATAGATCCATAAACAGCACATAGCATAATTTGGCACATTTTTAGCCTTCTCCCTACCTCACTCAAACAGACTACACAGAACCTTCTCCTCCATATAAGAATCAGAAAGGAAAGGAAGGTTGCACTGGG... |
Task1_train_12608 | A genetic alteration is present in GLDC (glycine decarboxylase) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Glycine encephalopathy | GATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGCATCATTTTGTTTCCTCTCCTCTCCAATGAATACAGGATTTACCATTCTCATTATGTTTTTATACTATTACTGCATAGATCCATAAACAGCACATAGCATAATTTGGCACATTTTTAGCCTTCTCCCTACCTCACTCAAACAGACTACACAGAACCTTCTCCTCCATATAAGAATCAGAAAGGAAAGGAAGGTTGCACTGGGCGCCATCTCCCTGTCCCACAGTGGAGGGAAACACA... | GATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGCATCATTTTGTTTCCTCTCCTCTCCAATGAATACAGGATTTACCATTCTCATTATGTTTTTATACTATTACTGCATAGATCCATAAACAGCACATAGCATAATTTGGCACATTTTTAGCCTTCTCCCTACCTCACTCAAACAGACTACACAGAACCTTCTCCTCCATATAAGAATCAGAAAGGAAAGGAAGGTTGCACTGGGCGCCATCTCCCTGTCCCACAGTGGAGGGAAACACA... |
Task1_train_12609 | The gene GLDC (glycine decarboxylase) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glycine encephalopathy | CAGTGAAATGCACAAATCCTAACTGTACCATTTAATGAGTTTTGGTAAATGCATACACCTTTGTCACTCAAACCAGACAGGGATTTTTTTTTTTTTTAAGAGAACAAGCTGATTACCTATCACGTCTGCCCTTAATTCCATGTGTGAGCAAATTCAGTCCAACATATCCTGCTGTAGTGGTCCCCATATTTTGAACCACCTGAGAAGTTCTTGCAAAAGAAATTCCTGCATCTGGGCCCTGATTCAGGAAGTCCAAGGTAGGGTCCAAAAATCTATGAGTCATAAAACATGCCAGGTGATTCTGATAATTGGTCTGATAA... | CAGTGAAATGCACAAATCCTAACTGTACCATTTAATGAGTTTTGGTAAATGCATACACCTTTGTCACTCAAACCAGACAGGGATTTTTTTTTTTTTTAAGAGAACAAGCTGATTACCTATCACGTCTGCCCTTAATTCCATGTGTGAGCAAATTCAGTCCAACATATCCTGCTGTAGTGGTCCCCATATTTTGAACCACCTGAGAAGTTCTTGCAAAAGAAATTCCTGCATCTGGGCCCTGATTCAGGAAGTCCAAGGTAGGGTCCAAAAATCTATGAGTCATAAAACATGCCAGGTGATTCTGATAATTGGTCTGATAA... |
Task1_train_12610 | This variant affects the gene GLDC (glycine decarboxylase) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Glycine encephalopathy | GGTAAATGCATACACCTTTGTCACTCAAACCAGACAGGGATTTTTTTTTTTTTTAAGAGAACAAGCTGATTACCTATCACGTCTGCCCTTAATTCCATGTGTGAGCAAATTCAGTCCAACATATCCTGCTGTAGTGGTCCCCATATTTTGAACCACCTGAGAAGTTCTTGCAAAAGAAATTCCTGCATCTGGGCCCTGATTCAGGAAGTCCAAGGTAGGGTCCAAAAATCTATGAGTCATAAAACATGCCAGGTGATTCTGATAATTGGTCTGATAATTAGCCTGGAACTGCTGGGTAAGGCAGTATGCCCCAAAATTGC... | GGTAAATGCATACACCTTTGTCACTCAAACCAGACAGGGATTTTTTTTTTTTTTAAGAGAACAAGCTGATTACCTATCACGTCTGCCCTTAATTCCATGTGTGAGCAAATTCAGTCCAACATATCCTGCTGTAGTGGTCCCCATATTTTGAACCACCTGAGAAGTTCTTGCAAAAGAAATTCCTGCATCTGGGCCCTGATTCAGGAAGTCCAAGGTAGGGTCCAAAAATCTATGAGTCATAAAACATGCCAGGTGATTCTGATAATTGGTCTGATAATTAGCCTGGAACTGCTGGGTAAGGCAGTATGCCCCAAAATTGC... |
Task1_train_12611 | A variant found in Chromosome 9 affects GLDC (glycine decarboxylase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Glycine encephalopathy | AAGCAATTTTGTCTGGTTTATTTTCCCATTGTCCCTAGTAGAGGCTGCTTATGTTTAAAAACTGCTCAATCTTGTCCTGGTAGTTAAGAGTCCCTGTGATCATAAGGGATACACATCATCACTGCAAAGAGCTTCAAATCAAGACTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAG... | AAGCAATTTTGTCTGGTTTATTTTCCCATTGTCCCTAGTAGAGGCTGCTTATGTTTAAAAACTGCTCAATCTTGTCCTGGTAGTTAAGAGTCCCTGTGATCATAAGGGATACACATCATCACTGCAAAGAGCTTCAAATCAAGACTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAG... |
Task1_train_12612 | This alteration occurs within gene GLDC (glycine decarboxylase) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Glycine encephalopathy | ATGTTTAAAAACTGCTCAATCTTGTCCTGGTAGTTAAGAGTCCCTGTGATCATAAGGGATACACATCATCACTGCAAAGAGCTTCAAATCAAGACTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAGGCTGGTCAAAGAAGGGTTCCTAGATTAAGAGCCAGAACTTGGCTAGAAAC... | ATGTTTAAAAACTGCTCAATCTTGTCCTGGTAGTTAAGAGTCCCTGTGATCATAAGGGATACACATCATCACTGCAAAGAGCTTCAAATCAAGACTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAGGCTGGTCAAAGAAGGGTTCCTAGATTAAGAGCCAGAACTTGGCTAGAAAC... |
Task1_train_12613 | Located on Chromosome 9, this mutation impacts GLDC (glycine decarboxylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Glycine encephalopathy | CCTTTAAAGAGGGGCACTGCTTTGGGGAGACTGCTCTAATGAGCAGCCAAACAAGTGTTCTTATTCACAGTCTTGTCAGTCCAGGAGGTGGGCAGGGCAGTGTGAACAAGAACTGTAGAAAATCAACTCTGGCCCTGGTGTTATTTGGAATAAGACAAAGGAAGGAAGCCTGTACTCTGACTAATTACGCAGAGAGCACAGCACCACAAACCCTAAAGGCCAAAGAGCTCTGGGGAAAAACCAGAGAAGCAAATTTCTGCTATTTTTCATCTTCTCCTCTGGCCCCCCCCAAGAAATATATAGCAAAGTGAGATATATAG... | CCTTTAAAGAGGGGCACTGCTTTGGGGAGACTGCTCTAATGAGCAGCCAAACAAGTGTTCTTATTCACAGTCTTGTCAGTCCAGGAGGTGGGCAGGGCAGTGTGAACAAGAACTGTAGAAAATCAACTCTGGCCCTGGTGTTATTTGGAATAAGACAAAGGAAGGAAGCCTGTACTCTGACTAATTACGCAGAGAGCACAGCACCACAAACCCTAAAGGCCAAAGAGCTCTGGGGAAAAACCAGAGAAGCAAATTTCTGCTATTTTTCATCTTCTCCTCTGGCCCCCCCCAAGAAATATATAGCAAAGTGAGATATATAG... |
Task1_train_12614 | Consider this mutation in GLDC (glycine decarboxylase) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Glycine encephalopathy | AGAGGGGCACTGCTTTGGGGAGACTGCTCTAATGAGCAGCCAAACAAGTGTTCTTATTCACAGTCTTGTCAGTCCAGGAGGTGGGCAGGGCAGTGTGAACAAGAACTGTAGAAAATCAACTCTGGCCCTGGTGTTATTTGGAATAAGACAAAGGAAGGAAGCCTGTACTCTGACTAATTACGCAGAGAGCACAGCACCACAAACCCTAAAGGCCAAAGAGCTCTGGGGAAAAACCAGAGAAGCAAATTTCTGCTATTTTTCATCTTCTCCTCTGGCCCCCCCCAAGAAATATATAGCAAAGTGAGATATATAGCAGGATC... | AGAGGGGCACTGCTTTGGGGAGACTGCTCTAATGAGCAGCCAAACAAGTGTTCTTATTCACAGTCTTGTCAGTCCAGGAGGTGGGCAGGGCAGTGTGAACAAGAACTGTAGAAAATCAACTCTGGCCCTGGTGTTATTTGGAATAAGACAAAGGAAGGAAGCCTGTACTCTGACTAATTACGCAGAGAGCACAGCACCACAAACCCTAAAGGCCAAAGAGCTCTGGGGAAAAACCAGAGAAGCAAATTTCTGCTATTTTTCATCTTCTCCTCTGGCCCCCCCCAAGAAATATATAGCAAAGTGAGATATATAGCAGGATC... |
Task1_train_12615 | The gene GLDC (glycine decarboxylase) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Glycine encephalopathy 1 | AGAGGGGCACTGCTTTGGGGAGACTGCTCTAATGAGCAGCCAAACAAGTGTTCTTATTCACAGTCTTGTCAGTCCAGGAGGTGGGCAGGGCAGTGTGAACAAGAACTGTAGAAAATCAACTCTGGCCCTGGTGTTATTTGGAATAAGACAAAGGAAGGAAGCCTGTACTCTGACTAATTACGCAGAGAGCACAGCACCACAAACCCTAAAGGCCAAAGAGCTCTGGGGAAAAACCAGAGAAGCAAATTTCTGCTATTTTTCATCTTCTCCTCTGGCCCCCCCCAAGAAATATATAGCAAAGTGAGATATATAGCAGGATC... | AGAGGGGCACTGCTTTGGGGAGACTGCTCTAATGAGCAGCCAAACAAGTGTTCTTATTCACAGTCTTGTCAGTCCAGGAGGTGGGCAGGGCAGTGTGAACAAGAACTGTAGAAAATCAACTCTGGCCCTGGTGTTATTTGGAATAAGACAAAGGAAGGAAGCCTGTACTCTGACTAATTACGCAGAGAGCACAGCACCACAAACCCTAAAGGCCAAAGAGCTCTGGGGAAAAACCAGAGAAGCAAATTTCTGCTATTTTTCATCTTCTCCTCTGGCCCCCCCCAAGAAATATATAGCAAAGTGAGATATATAGCAGGATC... |
Task1_train_12616 | Assess the clinical impact of this variant on gene GLDC (glycine decarboxylase), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not specified | AAGTGTTCTTATTCACAGTCTTGTCAGTCCAGGAGGTGGGCAGGGCAGTGTGAACAAGAACTGTAGAAAATCAACTCTGGCCCTGGTGTTATTTGGAATAAGACAAAGGAAGGAAGCCTGTACTCTGACTAATTACGCAGAGAGCACAGCACCACAAACCCTAAAGGCCAAAGAGCTCTGGGGAAAAACCAGAGAAGCAAATTTCTGCTATTTTTCATCTTCTCCTCTGGCCCCCCCCAAGAAATATATAGCAAAGTGAGATATATAGCAGGATCTCAGCAAAGTGGAATAATTAGTACATGCACTGCTTTTCACTCGGA... | AAGTGTTCTTATTCACAGTCTTGTCAGTCCAGGAGGTGGGCAGGGCAGTGTGAACAAGAACTGTAGAAAATCAACTCTGGCCCTGGTGTTATTTGGAATAAGACAAAGGAAGGAAGCCTGTACTCTGACTAATTACGCAGAGAGCACAGCACCACAAACCCTAAAGGCCAAAGAGCTCTGGGGAAAAACCAGAGAAGCAAATTTCTGCTATTTTTCATCTTCTCCTCTGGCCCCCCCCAAGAAATATATAGCAAAGTGAGATATATAGCAGGATCTCAGCAAAGTGGAATAATTAGTACATGCACTGCTTTTCACTCGGA... |
Task1_train_12617 | Here is a variant affecting GLDC (glycine decarboxylase) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Glycine encephalopathy | AAGTGTTCTTATTCACAGTCTTGTCAGTCCAGGAGGTGGGCAGGGCAGTGTGAACAAGAACTGTAGAAAATCAACTCTGGCCCTGGTGTTATTTGGAATAAGACAAAGGAAGGAAGCCTGTACTCTGACTAATTACGCAGAGAGCACAGCACCACAAACCCTAAAGGCCAAAGAGCTCTGGGGAAAAACCAGAGAAGCAAATTTCTGCTATTTTTCATCTTCTCCTCTGGCCCCCCCCAAGAAATATATAGCAAAGTGAGATATATAGCAGGATCTCAGCAAAGTGGAATAATTAGTACATGCACTGCTTTTCACTCGGA... | AAGTGTTCTTATTCACAGTCTTGTCAGTCCAGGAGGTGGGCAGGGCAGTGTGAACAAGAACTGTAGAAAATCAACTCTGGCCCTGGTGTTATTTGGAATAAGACAAAGGAAGGAAGCCTGTACTCTGACTAATTACGCAGAGAGCACAGCACCACAAACCCTAAAGGCCAAAGAGCTCTGGGGAAAAACCAGAGAAGCAAATTTCTGCTATTTTTCATCTTCTCCTCTGGCCCCCCCCAAGAAATATATAGCAAAGTGAGATATATAGCAGGATCTCAGCAAAGTGGAATAATTAGTACATGCACTGCTTTTCACTCGGA... |
Task1_train_12618 | A variant found in Chromosome 9 affects GLDC (glycine decarboxylase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Smith-Magenis Syndrome-like | TTTGATTTCAGTGTAAAAAGTTATCCACAGCTAAGAAATATTCCTTCAGTCCTACTCTGGCTTCATCCAATTATTTCTAGTAACCAGGTTTGTTTCTTCCTTACTTATGTGTTACTTATCTCAACACCTTACATCTAATTCACTTTCAATGGAACCATTAGCTGATTTTAAAAAAGAAAAAAAAAATGCTAGGAAATCCAAAAGTCCGAAAGGCACTTTCTAGTGCCAATATTCCAGTTACAATACGTATGCTCAGGTGAAGTTCCCTATTCATTATTCTGTTAATAAACCTGCTGTCTATGTGCAACTGGAAGCTCAGT... | TTTGATTTCAGTGTAAAAAGTTATCCACAGCTAAGAAATATTCCTTCAGTCCTACTCTGGCTTCATCCAATTATTTCTAGTAACCAGGTTTGTTTCTTCCTTACTTATGTGTTACTTATCTCAACACCTTACATCTAATTCACTTTCAATGGAACCATTAGCTGATTTTAAAAAAGAAAAAAAAAATGCTAGGAAATCCAAAAGTCCGAAAGGCACTTTCTAGTGCCAATATTCCAGTTACAATACGTATGCTCAGGTGAAGTTCCCTATTCATTATTCTGTTAATAAACCTGCTGTCTATGTGCAACTGGAAGCTCAGT... |
Task1_train_12619 | Consider a variant on Chromosome 9 in gene GLDC (glycine decarboxylase). Determine its clinical classification and disease relevance. | Pathogenic; Glycine encephalopathy | TAGCTAGTCACCTGCTTTCTGCAAACACTGCTTTCTGCGGCCTCTCCGCCAAGCAGTGGAGGAGTCGGGTGGAGATGTCACACAGGACAGGCTGCCCCTTTCCAGCATCCCCAGGCTCCTGGGCACCTCGTGGTGAAAGATACTAATGAAGAGGAACTCCAGAGACGACCTCAGAACATGGAAGCCATGAGGGAAAAACAGACAGGAGAGAATCTGGCATTGTTTTACTGGCTGGACACCTGGAGCTCCAAAGTTTCCTTTCTGATTCTGTGAAAGTGCCGAGACTCTCAGGTCCCAAGAGCAATTATAGTTCTAAACTA... | TAGCTAGTCACCTGCTTTCTGCAAACACTGCTTTCTGCGGCCTCTCCGCCAAGCAGTGGAGGAGTCGGGTGGAGATGTCACACAGGACAGGCTGCCCCTTTCCAGCATCCCCAGGCTCCTGGGCACCTCGTGGTGAAAGATACTAATGAAGAGGAACTCCAGAGACGACCTCAGAACATGGAAGCCATGAGGGAAAAACAGACAGGAGAGAATCTGGCATTGTTTTACTGGCTGGACACCTGGAGCTCCAAAGTTTCCTTTCTGATTCTGTGAAAGTGCCGAGACTCTCAGGTCCCAAGAGCAATTATAGTTCTAAACTA... |
Task1_train_12620 | Chromosome 9 houses a mutation in gene GLDC (glycine decarboxylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glycine encephalopathy 1 | TAGCTAGTCACCTGCTTTCTGCAAACACTGCTTTCTGCGGCCTCTCCGCCAAGCAGTGGAGGAGTCGGGTGGAGATGTCACACAGGACAGGCTGCCCCTTTCCAGCATCCCCAGGCTCCTGGGCACCTCGTGGTGAAAGATACTAATGAAGAGGAACTCCAGAGACGACCTCAGAACATGGAAGCCATGAGGGAAAAACAGACAGGAGAGAATCTGGCATTGTTTTACTGGCTGGACACCTGGAGCTCCAAAGTTTCCTTTCTGATTCTGTGAAAGTGCCGAGACTCTCAGGTCCCAAGAGCAATTATAGTTCTAAACTA... | TAGCTAGTCACCTGCTTTCTGCAAACACTGCTTTCTGCGGCCTCTCCGCCAAGCAGTGGAGGAGTCGGGTGGAGATGTCACACAGGACAGGCTGCCCCTTTCCAGCATCCCCAGGCTCCTGGGCACCTCGTGGTGAAAGATACTAATGAAGAGGAACTCCAGAGACGACCTCAGAACATGGAAGCCATGAGGGAAAAACAGACAGGAGAGAATCTGGCATTGTTTTACTGGCTGGACACCTGGAGCTCCAAAGTTTCCTTTCTGATTCTGTGAAAGTGCCGAGACTCTCAGGTCCCAAGAGCAATTATAGTTCTAAACTA... |
Task1_train_12621 | Gene GLDC (glycine decarboxylase), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not specified | ATTGTGATGTGGGCATCAGGGATGTTATAAAGTCACCATGGGATCTAATTCCTAGCCAAGGCTGTAAACCACTGCTTTAAGAAGACAAATTTCCTGATTCTTAGGTCAGTCTTCTGGGATCCTGGCTGGGATCACAATTTACTGCAAGAGCTAATAACCAGAATTAAAATAGTCTTGAAAAATCACTCTCCAATATGACAGTGAAAATGTGATTATATTCCGTCACTAGAGGGCGAAATTTCTTAATTTTCAACATTTAATAACTATCATAGACTCAAGGTTCAGAATTCACTGAGGTTTGTCTCTTAAAACAAAACAAA... | ATTGTGATGTGGGCATCAGGGATGTTATAAAGTCACCATGGGATCTAATTCCTAGCCAAGGCTGTAAACCACTGCTTTAAGAAGACAAATTTCCTGATTCTTAGGTCAGTCTTCTGGGATCCTGGCTGGGATCACAATTTACTGCAAGAGCTAATAACCAGAATTAAAATAGTCTTGAAAAATCACTCTCCAATATGACAGTGAAAATGTGATTATATTCCGTCACTAGAGGGCGAAATTTCTTAATTTTCAACATTTAATAACTATCATAGACTCAAGGTTCAGAATTCACTGAGGTTTGTCTCTTAAAACAAAACAAA... |
Task1_train_12622 | Chromosome 9 houses a mutation in gene GLDC (glycine decarboxylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glycine encephalopathy | ATTGTGATGTGGGCATCAGGGATGTTATAAAGTCACCATGGGATCTAATTCCTAGCCAAGGCTGTAAACCACTGCTTTAAGAAGACAAATTTCCTGATTCTTAGGTCAGTCTTCTGGGATCCTGGCTGGGATCACAATTTACTGCAAGAGCTAATAACCAGAATTAAAATAGTCTTGAAAAATCACTCTCCAATATGACAGTGAAAATGTGATTATATTCCGTCACTAGAGGGCGAAATTTCTTAATTTTCAACATTTAATAACTATCATAGACTCAAGGTTCAGAATTCACTGAGGTTTGTCTCTTAAAACAAAACAAA... | ATTGTGATGTGGGCATCAGGGATGTTATAAAGTCACCATGGGATCTAATTCCTAGCCAAGGCTGTAAACCACTGCTTTAAGAAGACAAATTTCCTGATTCTTAGGTCAGTCTTCTGGGATCCTGGCTGGGATCACAATTTACTGCAAGAGCTAATAACCAGAATTAAAATAGTCTTGAAAAATCACTCTCCAATATGACAGTGAAAATGTGATTATATTCCGTCACTAGAGGGCGAAATTTCTTAATTTTCAACATTTAATAACTATCATAGACTCAAGGTTCAGAATTCACTGAGGTTTGTCTCTTAAAACAAAACAAA... |
Task1_train_12623 | Assess the clinical impact of this variant on gene GLDC (glycine decarboxylase), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Glycine encephalopathy | CCCGGAGTTTGTATTTTTAACAAGTGCTCAGGAGATTTTGCTGGAGGCTGTTGCTTTTGAAAATCACTGTTCTTCTTCAAAGTCTTTCCTTTACAAAGAAATTGAGGCTGGAAGAGGAGAAGGGACCTTTCAAAGTTAGTGACATTACCAAAGCAGGATCCAGGTTCTCCTGGCCCTGCTAAACTGAGACACTTGTTGGAATTCAGCATGTGTGCTTGATCCTTCTTCTTATGCTGTGTCACTGACAGGTGTAGTAAGCTAGCTTCCAAAGACAGTCCGCAATGAACGACATCTACCAAAATTCACACCCAGGTGTTGTC... | CCCGGAGTTTGTATTTTTAACAAGTGCTCAGGAGATTTTGCTGGAGGCTGTTGCTTTTGAAAATCACTGTTCTTCTTCAAAGTCTTTCCTTTACAAAGAAATTGAGGCTGGAAGAGGAGAAGGGACCTTTCAAAGTTAGTGACATTACCAAAGCAGGATCCAGGTTCTCCTGGCCCTGCTAAACTGAGACACTTGTTGGAATTCAGCATGTGTGCTTGATCCTTCTTCTTATGCTGTGTCACTGACAGGTGTAGTAAGCTAGCTTCCAAAGACAGTCCGCAATGAACGACATCTACCAAAATTCACACCCAGGTGTTGTC... |
Task1_train_12624 | The gene GLDC (glycine decarboxylase) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not specified | CCGGAGTTTGTATTTTTAACAAGTGCTCAGGAGATTTTGCTGGAGGCTGTTGCTTTTGAAAATCACTGTTCTTCTTCAAAGTCTTTCCTTTACAAAGAAATTGAGGCTGGAAGAGGAGAAGGGACCTTTCAAAGTTAGTGACATTACCAAAGCAGGATCCAGGTTCTCCTGGCCCTGCTAAACTGAGACACTTGTTGGAATTCAGCATGTGTGCTTGATCCTTCTTCTTATGCTGTGTCACTGACAGGTGTAGTAAGCTAGCTTCCAAAGACAGTCCGCAATGAACGACATCTACCAAAATTCACACCCAGGTGTTGTCC... | CCGGAGTTTGTATTTTTAACAAGTGCTCAGGAGATTTTGCTGGAGGCTGTTGCTTTTGAAAATCACTGTTCTTCTTCAAAGTCTTTCCTTTACAAAGAAATTGAGGCTGGAAGAGGAGAAGGGACCTTTCAAAGTTAGTGACATTACCAAAGCAGGATCCAGGTTCTCCTGGCCCTGCTAAACTGAGACACTTGTTGGAATTCAGCATGTGTGCTTGATCCTTCTTCTTATGCTGTGTCACTGACAGGTGTAGTAAGCTAGCTTCCAAAGACAGTCCGCAATGAACGACATCTACCAAAATTCACACCCAGGTGTTGTCC... |
Task1_train_12625 | The variant affects gene GLDC (glycine decarboxylase), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glycine encephalopathy | CCGGAGTTTGTATTTTTAACAAGTGCTCAGGAGATTTTGCTGGAGGCTGTTGCTTTTGAAAATCACTGTTCTTCTTCAAAGTCTTTCCTTTACAAAGAAATTGAGGCTGGAAGAGGAGAAGGGACCTTTCAAAGTTAGTGACATTACCAAAGCAGGATCCAGGTTCTCCTGGCCCTGCTAAACTGAGACACTTGTTGGAATTCAGCATGTGTGCTTGATCCTTCTTCTTATGCTGTGTCACTGACAGGTGTAGTAAGCTAGCTTCCAAAGACAGTCCGCAATGAACGACATCTACCAAAATTCACACCCAGGTGTTGTCC... | CCGGAGTTTGTATTTTTAACAAGTGCTCAGGAGATTTTGCTGGAGGCTGTTGCTTTTGAAAATCACTGTTCTTCTTCAAAGTCTTTCCTTTACAAAGAAATTGAGGCTGGAAGAGGAGAAGGGACCTTTCAAAGTTAGTGACATTACCAAAGCAGGATCCAGGTTCTCCTGGCCCTGCTAAACTGAGACACTTGTTGGAATTCAGCATGTGTGCTTGATCCTTCTTCTTATGCTGTGTCACTGACAGGTGTAGTAAGCTAGCTTCCAAAGACAGTCCGCAATGAACGACATCTACCAAAATTCACACCCAGGTGTTGTCC... |
Task1_train_12626 | This mutation is located in gene GLDC (glycine decarboxylase) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Glycine encephalopathy 1 | GGTGTAGTAAGCTAGCTTCCAAAGACAGTCCGCAATGAACGACATCTACCAAAATTCACACCCAGGTGTTGTCCCCTCCCCGATTCAATCTGGGCTCGCCTCGTGACTTGCTTTAATAGATAGACTAATCTGGAAGGGATGCAGTGTAACTTAGGAGGTTCGGCCATTAGAGATTTGCAGCTTCTCCATGCTTCATCTGGGAACACGCATTCTGAACCCCGACATTGTGCTGTAAGGAACAAGGAAGCTCAAGGAACTACAAGGAAAGCCCCATATGGAGAAAAACTATGGCCCTAGTGAACATCCTCAAATGCACTCCC... | GGTGTAGTAAGCTAGCTTCCAAAGACAGTCCGCAATGAACGACATCTACCAAAATTCACACCCAGGTGTTGTCCCCTCCCCGATTCAATCTGGGCTCGCCTCGTGACTTGCTTTAATAGATAGACTAATCTGGAAGGGATGCAGTGTAACTTAGGAGGTTCGGCCATTAGAGATTTGCAGCTTCTCCATGCTTCATCTGGGAACACGCATTCTGAACCCCGACATTGTGCTGTAAGGAACAAGGAAGCTCAAGGAACTACAAGGAAAGCCCCATATGGAGAAAAACTATGGCCCTAGTGAACATCCTCAAATGCACTCCC... |
Task1_train_12627 | This genomic variant is located on Chromosome 9, within the GLDC (glycine decarboxylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glycine encephalopathy | GGTGTAGTAAGCTAGCTTCCAAAGACAGTCCGCAATGAACGACATCTACCAAAATTCACACCCAGGTGTTGTCCCCTCCCCGATTCAATCTGGGCTCGCCTCGTGACTTGCTTTAATAGATAGACTAATCTGGAAGGGATGCAGTGTAACTTAGGAGGTTCGGCCATTAGAGATTTGCAGCTTCTCCATGCTTCATCTGGGAACACGCATTCTGAACCCCGACATTGTGCTGTAAGGAACAAGGAAGCTCAAGGAACTACAAGGAAAGCCCCATATGGAGAAAAACTATGGCCCTAGTGAACATCCTCAAATGCACTCCC... | GGTGTAGTAAGCTAGCTTCCAAAGACAGTCCGCAATGAACGACATCTACCAAAATTCACACCCAGGTGTTGTCCCCTCCCCGATTCAATCTGGGCTCGCCTCGTGACTTGCTTTAATAGATAGACTAATCTGGAAGGGATGCAGTGTAACTTAGGAGGTTCGGCCATTAGAGATTTGCAGCTTCTCCATGCTTCATCTGGGAACACGCATTCTGAACCCCGACATTGTGCTGTAAGGAACAAGGAAGCTCAAGGAACTACAAGGAAAGCCCCATATGGAGAAAAACTATGGCCCTAGTGAACATCCTCAAATGCACTCCC... |
Task1_train_12628 | This variant lies on Chromosome 9 and affects the gene GLDC (glycine decarboxylase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glycine encephalopathy | GGCTGGAAACAGACCTGGTCATAACCTGTGAGTTCACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCA... | GGCTGGAAACAGACCTGGTCATAACCTGTGAGTTCACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCA... |
Task1_train_12629 | The gene GLDC (glycine decarboxylase) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; GLDC-related disorder | ACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCATTTAAAAGTGGGACATAGTTGTCCAAAAAGGGAAC... | ACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCATTTAAAAGTGGGACATAGTTGTCCAAAAAGGGAAC... |
Task1_train_12630 | A sequence alteration has been identified in GLDC (glycine decarboxylase) on Chromosome 9. Is it disease-inducing or harmless? | Pathogenic; Glycine encephalopathy | ACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCATTTAAAAGTGGGACATAGTTGTCCAAAAAGGGAAC... | ACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCATTTAAAAGTGGGACATAGTTGTCCAAAAAGGGAAC... |
Task1_train_12631 | Here’s a variant in GLDC (glycine decarboxylase) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Generalized epilepsy | ACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCATTTAAAAGTGGGACATAGTTGTCCAAAAAGGGAAC... | ACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCATTTAAAAGTGGGACATAGTTGTCCAAAAAGGGAAC... |
Task1_train_12632 | A mutation on Chromosome 9 affecting GLDC (glycine decarboxylase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Global developmental delay | ACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCATTTAAAAGTGGGACATAGTTGTCCAAAAAGGGAAC... | ACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCATTTAAAAGTGGGACATAGTTGTCCAAAAAGGGAAC... |
Task1_train_12633 | Gene GLDC (glycine decarboxylase), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Obesity | ACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCATTTAAAAGTGGGACATAGTTGTCCAAAAAGGGAAC... | ACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCATTTAAAAGTGGGACATAGTTGTCCAAAAAGGGAAC... |
Task1_train_12634 | Given this variant in gene GLDC (glycine decarboxylase) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glycine encephalopathy 1 | ACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCATTTAAAAGTGGGACATAGTTGTCCAAAAAGGGAAC... | ACACAAATCCTTCTCAAGCTCTCGGAAAAGCTGCTGATATCCTTGAGCTTGATCCAGAGGCACAAAGGGGTGGATGTTTGCAAATTCTTTCCATGTGATAGGCTGAAAAGAAAGAAAACAAAAATGCATATATACATATTATAATAGCAATAGCAATAATAACTTTAATAATAATGACGATGATGAGAAAAGCTATGTGCCAGGCACTGTTCTAAGCGCTATACATATGTTAATTTATTTAAGTTCCACCACAACCTTATAAGGTAAGTACCGTTACTGTCTTCATTTAAAAGTGGGACATAGTTGTCCAAAAAGGGAAC... |
Task1_train_12635 | A variant affecting Chromosome 9, within the gene GLDC (glycine decarboxylase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Glycine encephalopathy | AATTAAATTTCTATAAAATTTGAAATGTGTGTGCATCAAAGAACATTATCAAGAAAGTTAAGAGACTGACTACCCACAGAATGGAAGAAAATATATGTAAGTCATATATCTGATAAGGATTTAATATCCAGAATATATAATCAATACATGGCTTGATCCTCATTCCTTGCCAGGCTAATAATATGACTAATACAGATTTAATACTTGTCCCCTCCAGATCTCAGGGTGAAATGTGATCCCCAGTGTTGAAGATGGGCTTGGCGCTGTCTTCACAGTAATGAGTGAGTTCTCACTCTACTAGTTCCCATGAGAACTGATGA... | AATTAAATTTCTATAAAATTTGAAATGTGTGTGCATCAAAGAACATTATCAAGAAAGTTAAGAGACTGACTACCCACAGAATGGAAGAAAATATATGTAAGTCATATATCTGATAAGGATTTAATATCCAGAATATATAATCAATACATGGCTTGATCCTCATTCCTTGCCAGGCTAATAATATGACTAATACAGATTTAATACTTGTCCCCTCCAGATCTCAGGGTGAAATGTGATCCCCAGTGTTGAAGATGGGCTTGGCGCTGTCTTCACAGTAATGAGTGAGTTCTCACTCTACTAGTTCCCATGAGAACTGATGA... |
Task1_train_12636 | The gene GLDC (glycine decarboxylase) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inborn genetic diseases | ATAATAAAGAGATAAATTCTACTAGACTCTTGTTGGTCCTGGGGAGTGCTTTGGTGATTGCTTTTTAAAAAACTAAACATGTTTATTATCATGCTGTAGAAAATTATGAAATACATATAAAAGAGTAAGGAAAATCAACATACAATTGCATTACTGCGTGTATTTTGGTGTATTATTTCTCAAGAAATGGGGGAGCAGGTAGTATCAGATATATATATATATATATAAAATTATACCTTTTTTTTTTTGAGAGATACAGTCTCACTCTGTTGTCCAGGCTGGAATGCAGTGGCATGATCATAGCTGATTGCATCCTCAAA... | ATAATAAAGAGATAAATTCTACTAGACTCTTGTTGGTCCTGGGGAGTGCTTTGGTGATTGCTTTTTAAAAAACTAAACATGTTTATTATCATGCTGTAGAAAATTATGAAATACATATAAAAGAGTAAGGAAAATCAACATACAATTGCATTACTGCGTGTATTTTGGTGTATTATTTCTCAAGAAATGGGGGAGCAGGTAGTATCAGATATATATATATATATATAAAATTATACCTTTTTTTTTTTGAGAGATACAGTCTCACTCTGTTGTCCAGGCTGGAATGCAGTGGCATGATCATAGCTGATTGCATCCTCAAA... |
Task1_train_12637 | A sequence alteration has been identified in GLDC (glycine decarboxylase) on Chromosome 9. Is it disease-inducing or harmless? | Pathogenic; Glycine encephalopathy | ATAATAAAGAGATAAATTCTACTAGACTCTTGTTGGTCCTGGGGAGTGCTTTGGTGATTGCTTTTTAAAAAACTAAACATGTTTATTATCATGCTGTAGAAAATTATGAAATACATATAAAAGAGTAAGGAAAATCAACATACAATTGCATTACTGCGTGTATTTTGGTGTATTATTTCTCAAGAAATGGGGGAGCAGGTAGTATCAGATATATATATATATATATAAAATTATACCTTTTTTTTTTTGAGAGATACAGTCTCACTCTGTTGTCCAGGCTGGAATGCAGTGGCATGATCATAGCTGATTGCATCCTCAAA... | ATAATAAAGAGATAAATTCTACTAGACTCTTGTTGGTCCTGGGGAGTGCTTTGGTGATTGCTTTTTAAAAAACTAAACATGTTTATTATCATGCTGTAGAAAATTATGAAATACATATAAAAGAGTAAGGAAAATCAACATACAATTGCATTACTGCGTGTATTTTGGTGTATTATTTCTCAAGAAATGGGGGAGCAGGTAGTATCAGATATATATATATATATATAAAATTATACCTTTTTTTTTTTGAGAGATACAGTCTCACTCTGTTGTCCAGGCTGGAATGCAGTGGCATGATCATAGCTGATTGCATCCTCAAA... |
Task1_train_12638 | The variant affects gene GLDC (glycine decarboxylase), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glycine encephalopathy 1 | ATAATAAAGAGATAAATTCTACTAGACTCTTGTTGGTCCTGGGGAGTGCTTTGGTGATTGCTTTTTAAAAAACTAAACATGTTTATTATCATGCTGTAGAAAATTATGAAATACATATAAAAGAGTAAGGAAAATCAACATACAATTGCATTACTGCGTGTATTTTGGTGTATTATTTCTCAAGAAATGGGGGAGCAGGTAGTATCAGATATATATATATATATATAAAATTATACCTTTTTTTTTTTGAGAGATACAGTCTCACTCTGTTGTCCAGGCTGGAATGCAGTGGCATGATCATAGCTGATTGCATCCTCAAA... | ATAATAAAGAGATAAATTCTACTAGACTCTTGTTGGTCCTGGGGAGTGCTTTGGTGATTGCTTTTTAAAAAACTAAACATGTTTATTATCATGCTGTAGAAAATTATGAAATACATATAAAAGAGTAAGGAAAATCAACATACAATTGCATTACTGCGTGTATTTTGGTGTATTATTTCTCAAGAAATGGGGGAGCAGGTAGTATCAGATATATATATATATATATAAAATTATACCTTTTTTTTTTTGAGAGATACAGTCTCACTCTGTTGTCCAGGCTGGAATGCAGTGGCATGATCATAGCTGATTGCATCCTCAAA... |
Task1_train_12639 | The gene GLDC (glycine decarboxylase) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not specified | AGAGATGCAATTACAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAA... | AGAGATGCAATTACAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAA... |
Task1_train_12640 | A change on Chromosome 9 affects gene GLDC (glycine decarboxylase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Glycine encephalopathy | AGAGATGCAATTACAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAA... | AGAGATGCAATTACAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAA... |
Task1_train_12641 | This alteration occurs within gene GLDC (glycine decarboxylase) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Glycine encephalopathy 1 | AGAGATGCAATTACAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAA... | AGAGATGCAATTACAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAA... |
Task1_train_12642 | Here is a genetic alteration in GLDC (glycine decarboxylase) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Glycine encephalopathy | GATGCAATTACAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAAAAA... | GATGCAATTACAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAAAAA... |
Task1_train_12643 | Located on Chromosome 9, this mutation impacts GLDC (glycine decarboxylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Glycine encephalopathy | GCAATTACAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAAAAAAAG... | GCAATTACAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAAAAAAAG... |
Task1_train_12644 | This alteration occurs within gene GLDC (glycine decarboxylase) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Glycine encephalopathy | GGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAAAAAAAGAAGCCAGGTGCCATGGCTCACACC... | GGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAAAAAAAGAAGCCAGGTGCCATGGCTCACACC... |
Task1_train_12645 | Gene GLDC (glycine decarboxylase) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not specified | GGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAAAAAAAGAAGCCAGGTGCCATGGCTCACACC... | GGCTCATGCCTATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAAAAAAAGAAGCCAGGTGCCATGGCTCACACC... |
Task1_train_12646 | A variant affecting Chromosome 9, within the gene GLDC (glycine decarboxylase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Glycine encephalopathy | TATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAAAAAAAGAAGCCAGGTGCCATGGCTCACACCTACAATCCCA... | TATAATCCTATCACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAAAAAAAGAAGCCAGGTGCCATGGCTCACACCTACAATCCCA... |
Task1_train_12647 | This alteration occurs within gene GLDC (glycine decarboxylase) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Glycine encephalopathy | CACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAAAAAAAGAAGCCAGGTGCCATGGCTCACACCTACAATCCCAAAATTTTGGGA... | CACTATGGGAGGCCAAGATAGGATCACTTGAGCTCAGGAATTTGAGACCAACCTGAGCAACAAAGTGAGACCTCGCCTCTACAAAACATTTTTTTGAAAATTAGCTGGGCGTGGTGGAATGTACCCATAGTCCCAGCTACTTAGGAGGCTGAGACCGGAGAATAATTTGAGCCCTGGAGGTTGAAGGTTGAGGCTGCAGTGAGCTATGGCCATGCCACTGCACTCCAGAATGGACAACAGAGCAAGAATCTGTCTCAAGAAAAAAAAAAAAAAAGAAGCCAGGTGCCATGGCTCACACCTACAATCCCAAAATTTTGGGA... |
Task1_train_12648 | This is a variant in GLDC (glycine decarboxylase), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Glycine encephalopathy | TGGCCAGGCTGGTCTTGAACTCCTGGCCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCAGGATTACTGATTTTTAGACTGTACTCTGAGACACCAAGATATATACAATAAGTCTAGGAATTTTGAAAGAAAATTTTGCAGGAATTTCCCAGACAAATACAATAATGGTGACTGGGAGGATTAAGTTTCACTCTGAACTTCTTAGGAGACACAGGAAAAGTGGAAATATACGACAAAATTGAAAAGACTTGGCTCTCTGTGGATTCTACACCACAGATTCCACC... | TGGCCAGGCTGGTCTTGAACTCCTGGCCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCAGGATTACTGATTTTTAGACTGTACTCTGAGACACCAAGATATATACAATAAGTCTAGGAATTTTGAAAGAAAATTTTGCAGGAATTTCCCAGACAAATACAATAATGGTGACTGGGAGGATTAAGTTTCACTCTGAACTTCTTAGGAGACACAGGAAAAGTGGAAATATACGACAAAATTGAAAAGACTTGGCTCTCTGTGGATTCTACACCACAGATTCCACC... |
Task1_train_12649 | This variant lies on Chromosome 9 and affects the gene GLDC (glycine decarboxylase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glycine encephalopathy | TTTTGCAGGAATTTCCCAGACAAATACAATAATGGTGACTGGGAGGATTAAGTTTCACTCTGAACTTCTTAGGAGACACAGGAAAAGTGGAAATATACGACAAAATTGAAAAGACTTGGCTCTCTGTGGATTCTACACCACAGATTCCACCAATCACGGACTGAAAACATTCAAAAAAATAAAAAATAATACAACAATTAAAAATCACACAAATTTTATGAGCCGCGCATGGTGGCTCATGTCTATAATCCCAGCACTTTGGGGGGCCAAGGTGGGCGGATCACCTGAGGTCCAGAGTTTGAGACCAGCCTGGCCAACAT... | TTTTGCAGGAATTTCCCAGACAAATACAATAATGGTGACTGGGAGGATTAAGTTTCACTCTGAACTTCTTAGGAGACACAGGAAAAGTGGAAATATACGACAAAATTGAAAAGACTTGGCTCTCTGTGGATTCTACACCACAGATTCCACCAATCACGGACTGAAAACATTCAAAAAAATAAAAAATAATACAACAATTAAAAATCACACAAATTTTATGAGCCGCGCATGGTGGCTCATGTCTATAATCCCAGCACTTTGGGGGGCCAAGGTGGGCGGATCACCTGAGGTCCAGAGTTTGAGACCAGCCTGGCCAACAT... |
Task1_train_12650 | Consider a variant on Chromosome 9 in gene GLDC (glycine decarboxylase). Determine its clinical classification and disease relevance. | Pathogenic; Glycine encephalopathy | AAAAGTGGACACCTATATTTTCAAATAAGATGTCTTCCTTTTAAGACTAATTCATCATTTGAAATAAAATTTCAACTCAGTGTTTCTGGTGTATAAAATGGCACCAATCCAAAAAGATGGGAAAAAAGAGCCTAGGAGTCCCCACCTTTCCTCCTCCACAGTTAGACATTATATCCCAGTGAACAGCAGAGGCAGATGTCCTTAACTGCCCAGGCTGGAGTGCAATGCTGCGATCTTGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGCGATTACAGGCATGCACC... | AAAAGTGGACACCTATATTTTCAAATAAGATGTCTTCCTTTTAAGACTAATTCATCATTTGAAATAAAATTTCAACTCAGTGTTTCTGGTGTATAAAATGGCACCAATCCAAAAAGATGGGAAAAAAGAGCCTAGGAGTCCCCACCTTTCCTCCTCCACAGTTAGACATTATATCCCAGTGAACAGCAGAGGCAGATGTCCTTAACTGCCCAGGCTGGAGTGCAATGCTGCGATCTTGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGCGATTACAGGCATGCACC... |
Task1_train_12651 | Here is a genetic alteration in GLDC (glycine decarboxylase) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Glycine encephalopathy | ATTTTCAAATAAGATGTCTTCCTTTTAAGACTAATTCATCATTTGAAATAAAATTTCAACTCAGTGTTTCTGGTGTATAAAATGGCACCAATCCAAAAAGATGGGAAAAAAGAGCCTAGGAGTCCCCACCTTTCCTCCTCCACAGTTAGACATTATATCCCAGTGAACAGCAGAGGCAGATGTCCTTAACTGCCCAGGCTGGAGTGCAATGCTGCGATCTTGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGCGATTACAGGCATGCACCACCACGCCCAGCTAAT... | ATTTTCAAATAAGATGTCTTCCTTTTAAGACTAATTCATCATTTGAAATAAAATTTCAACTCAGTGTTTCTGGTGTATAAAATGGCACCAATCCAAAAAGATGGGAAAAAAGAGCCTAGGAGTCCCCACCTTTCCTCCTCCACAGTTAGACATTATATCCCAGTGAACAGCAGAGGCAGATGTCCTTAACTGCCCAGGCTGGAGTGCAATGCTGCGATCTTGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGCGATTACAGGCATGCACCACCACGCCCAGCTAAT... |
Task1_train_12652 | The following genetic variant occurs in GLDC (glycine decarboxylase) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Glycine encephalopathy 1 | TCAACTCAGTGTTTCTGGTGTATAAAATGGCACCAATCCAAAAAGATGGGAAAAAAGAGCCTAGGAGTCCCCACCTTTCCTCCTCCACAGTTAGACATTATATCCCAGTGAACAGCAGAGGCAGATGTCCTTAACTGCCCAGGCTGGAGTGCAATGCTGCGATCTTGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGCGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAAC... | TCAACTCAGTGTTTCTGGTGTATAAAATGGCACCAATCCAAAAAGATGGGAAAAAAGAGCCTAGGAGTCCCCACCTTTCCTCCTCCACAGTTAGACATTATATCCCAGTGAACAGCAGAGGCAGATGTCCTTAACTGCCCAGGCTGGAGTGCAATGCTGCGATCTTGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGCGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAAC... |
Task1_train_12653 | The gene GLDC (glycine decarboxylase), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glycine encephalopathy | TCAACTCAGTGTTTCTGGTGTATAAAATGGCACCAATCCAAAAAGATGGGAAAAAAGAGCCTAGGAGTCCCCACCTTTCCTCCTCCACAGTTAGACATTATATCCCAGTGAACAGCAGAGGCAGATGTCCTTAACTGCCCAGGCTGGAGTGCAATGCTGCGATCTTGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGCGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAAC... | TCAACTCAGTGTTTCTGGTGTATAAAATGGCACCAATCCAAAAAGATGGGAAAAAAGAGCCTAGGAGTCCCCACCTTTCCTCCTCCACAGTTAGACATTATATCCCAGTGAACAGCAGAGGCAGATGTCCTTAACTGCCCAGGCTGGAGTGCAATGCTGCGATCTTGGCTCACCACAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAACTAGCTGCGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAAC... |
Task1_train_12654 | The gene GLDC (glycine decarboxylase) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glycine encephalopathy | ATTTTCTAAAATGGAAATAGATAAGGCTTCCCTCCGACCATCCCTAAATCTCAATTAGTTCAATTCAGCAAAACATGCAGGTTTTCAACGACCATCAGATTTGAAACCAACAAAGGCAGCAGCCCTCAGCATAGCCTGAGCAGCCAACCTGAAGCAGATAGGCTCCATACCTCAAATGTCCACCTTCAAACAAAATAAAGCTTGCCATCTGCACACTAGATCCTTTCTATCATAGCAACAAAATAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACC... | ATTTTCTAAAATGGAAATAGATAAGGCTTCCCTCCGACCATCCCTAAATCTCAATTAGTTCAATTCAGCAAAACATGCAGGTTTTCAACGACCATCAGATTTGAAACCAACAAAGGCAGCAGCCCTCAGCATAGCCTGAGCAGCCAACCTGAAGCAGATAGGCTCCATACCTCAAATGTCCACCTTCAAACAAAATAAAGCTTGCCATCTGCACACTAGATCCTTTCTATCATAGCAACAAAATAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACC... |
Task1_train_12655 | Given this variant in gene GLDC (glycine decarboxylase) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not specified | ACCATCCCTAAATCTCAATTAGTTCAATTCAGCAAAACATGCAGGTTTTCAACGACCATCAGATTTGAAACCAACAAAGGCAGCAGCCCTCAGCATAGCCTGAGCAGCCAACCTGAAGCAGATAGGCTCCATACCTCAAATGTCCACCTTCAAACAAAATAAAGCTTGCCATCTGCACACTAGATCCTTTCTATCATAGCAACAAAATAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACCAGATGAGATTTTTTTTAAGAGCTCAGCCTGTGCCCT... | ACCATCCCTAAATCTCAATTAGTTCAATTCAGCAAAACATGCAGGTTTTCAACGACCATCAGATTTGAAACCAACAAAGGCAGCAGCCCTCAGCATAGCCTGAGCAGCCAACCTGAAGCAGATAGGCTCCATACCTCAAATGTCCACCTTCAAACAAAATAAAGCTTGCCATCTGCACACTAGATCCTTTCTATCATAGCAACAAAATAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACCAGATGAGATTTTTTTTAAGAGCTCAGCCTGTGCCCT... |
Task1_train_12656 | A variant was discovered in gene GLDC (glycine decarboxylase), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Glycine encephalopathy | ACCATCCCTAAATCTCAATTAGTTCAATTCAGCAAAACATGCAGGTTTTCAACGACCATCAGATTTGAAACCAACAAAGGCAGCAGCCCTCAGCATAGCCTGAGCAGCCAACCTGAAGCAGATAGGCTCCATACCTCAAATGTCCACCTTCAAACAAAATAAAGCTTGCCATCTGCACACTAGATCCTTTCTATCATAGCAACAAAATAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACCAGATGAGATTTTTTTTAAGAGCTCAGCCTGTGCCCT... | ACCATCCCTAAATCTCAATTAGTTCAATTCAGCAAAACATGCAGGTTTTCAACGACCATCAGATTTGAAACCAACAAAGGCAGCAGCCCTCAGCATAGCCTGAGCAGCCAACCTGAAGCAGATAGGCTCCATACCTCAAATGTCCACCTTCAAACAAAATAAAGCTTGCCATCTGCACACTAGATCCTTTCTATCATAGCAACAAAATAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACCAGATGAGATTTTTTTTAAGAGCTCAGCCTGTGCCCT... |
Task1_train_12657 | The gene GLDC (glycine decarboxylase) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glycine encephalopathy | TAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACCAGATGAGATTTTTTTTAAGAGCTCAGCCTGTGCCCTTGACTTATGGATTGTCCCCCCACCCCATGGAAGTCAAATACCCACATAAAAATACCCCTGAAAAGCAATCTTGGACCATTAAAAATATTTTAAACCTAAAATAAAATTCTAAGAAAGTCTATGACTAAACTGACCTTTCTTAAACAAATGTAAATCTTATTTGTGTGTTTTTCTAGAAAAACCATTCGGGGTAGGGCACAGTGACTC... | TAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACCAGATGAGATTTTTTTTAAGAGCTCAGCCTGTGCCCTTGACTTATGGATTGTCCCCCCACCCCATGGAAGTCAAATACCCACATAAAAATACCCCTGAAAAGCAATCTTGGACCATTAAAAATATTTTAAACCTAAAATAAAATTCTAAGAAAGTCTATGACTAAACTGACCTTTCTTAAACAAATGTAAATCTTATTTGTGTGTTTTTCTAGAAAAACCATTCGGGGTAGGGCACAGTGACTC... |
Task1_train_12658 | With a mutation on Chromosome 9 in gene GLDC (glycine decarboxylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Glycine encephalopathy | TAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACCAGATGAGATTTTTTTTAAGAGCTCAGCCTGTGCCCTTGACTTATGGATTGTCCCCCCACCCCATGGAAGTCAAATACCCACATAAAAATACCCCTGAAAAGCAATCTTGGACCATTAAAAATATTTTAAACCTAAAATAAAATTCTAAGAAAGTCTATGACTAAACTGACCTTTCTTAAACAAATGTAAATCTTATTTGTGTGTTTTTCTAGAAAAACCATTCGGGGTAGGGCACAGTGACTC... | TAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACCAGATGAGATTTTTTTTAAGAGCTCAGCCTGTGCCCTTGACTTATGGATTGTCCCCCCACCCCATGGAAGTCAAATACCCACATAAAAATACCCCTGAAAAGCAATCTTGGACCATTAAAAATATTTTAAACCTAAAATAAAATTCTAAGAAAGTCTATGACTAAACTGACCTTTCTTAAACAAATGTAAATCTTATTTGTGTGTTTTTCTAGAAAAACCATTCGGGGTAGGGCACAGTGACTC... |
Task1_train_12659 | Here is a genetic alteration in NFIB (nuclear factor I B) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Macrocephaly | TACAAATCTTTATTGTCAGTTCATCAAAACTAAGAGAGCTGGCTGCCTTCCCCAGGAGTAAATGTGCATGCAGGCAGGCACACCTCAAAACCTAGCCTTCAAGCAACTTAAAATGTGAGCAGTAGTGAAGTGGTTGCAAATCTTCCCTCCCTGCACTAAAAAGTTACATGACCCACTTTTTGAAACTTTACTTCCATCCTTGACTTTCACAACACAGTTACAACACATTTATAGTCAATCCAACACATATATACAGCCCACCTTAAAGTGTCACCTCCTAGACATCTGTCAATCAAATAAGTGTCATGTGTTACTGAGTT... | TACAAATCTTTATTGTCAGTTCATCAAAACTAAGAGAGCTGGCTGCCTTCCCCAGGAGTAAATGTGCATGCAGGCAGGCACACCTCAAAACCTAGCCTTCAAGCAACTTAAAATGTGAGCAGTAGTGAAGTGGTTGCAAATCTTCCCTCCCTGCACTAAAAAGTTACATGACCCACTTTTTGAAACTTTACTTCCATCCTTGACTTTCACAACACAGTTACAACACATTTATAGTCAATCCAACACATATATACAGCCCACCTTAAAGTGTCACCTCCTAGACATCTGTCAATCAAATAAGTGTCATGTGTTACTGAGTT... |
Task1_train_12660 | Gene NFIB (nuclear factor I B) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Intellectual disability | TACAAATCTTTATTGTCAGTTCATCAAAACTAAGAGAGCTGGCTGCCTTCCCCAGGAGTAAATGTGCATGCAGGCAGGCACACCTCAAAACCTAGCCTTCAAGCAACTTAAAATGTGAGCAGTAGTGAAGTGGTTGCAAATCTTCCCTCCCTGCACTAAAAAGTTACATGACCCACTTTTTGAAACTTTACTTCCATCCTTGACTTTCACAACACAGTTACAACACATTTATAGTCAATCCAACACATATATACAGCCCACCTTAAAGTGTCACCTCCTAGACATCTGTCAATCAAATAAGTGTCATGTGTTACTGAGTT... | TACAAATCTTTATTGTCAGTTCATCAAAACTAAGAGAGCTGGCTGCCTTCCCCAGGAGTAAATGTGCATGCAGGCAGGCACACCTCAAAACCTAGCCTTCAAGCAACTTAAAATGTGAGCAGTAGTGAAGTGGTTGCAAATCTTCCCTCCCTGCACTAAAAAGTTACATGACCCACTTTTTGAAACTTTACTTCCATCCTTGACTTTCACAACACAGTTACAACACATTTATAGTCAATCCAACACATATATACAGCCCACCTTAAAGTGTCACCTCCTAGACATCTGTCAATCAAATAAGTGTCATGTGTTACTGAGTT... |
Task1_train_12661 | This alteration occurs within gene FREM1 (FRAS1 related extracellular matrix 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Oculotrichoanal syndrome | CCACTGGCAAATTTTGCAAATTACACTTTAATGTTGTAAAGCTTCTGTAATATTTTCTTAAGCATTCCCCTACTCACTCTCTTTCATAATAGAAATAAAAAAGAATAAAATGAGAAAGGAACTCCCTGCCATAGCATGATCCGACATTCCCCAAATCAAATTTGACCATGAAAACAGTCCTAGATACATAACATTTTACCTTCCCCAACTGTTTTTCAGTCTGTATTTTTGGGTGGAATGAAATGAAATACTTTTGGTTAGGAATGCCCTCCCTGAATTATTGATTAGTGACATTCTGCCTAAGCATATTGTGAGGACAG... | CCACTGGCAAATTTTGCAAATTACACTTTAATGTTGTAAAGCTTCTGTAATATTTTCTTAAGCATTCCCCTACTCACTCTCTTTCATAATAGAAATAAAAAAGAATAAAATGAGAAAGGAACTCCCTGCCATAGCATGATCCGACATTCCCCAAATCAAATTTGACCATGAAAACAGTCCTAGATACATAACATTTTACCTTCCCCAACTGTTTTTCAGTCTGTATTTTTGGGTGGAATGAAATGAAATACTTTTGGTTAGGAATGCCCTCCCTGAATTATTGATTAGTGACATTCTGCCTAAGCATATTGTGAGGACAG... |
Task1_train_12662 | A variant was discovered in gene FREM1 (FRAS1 related extracellular matrix 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Trigonocephaly 2 | ACTAATGTCTTCAGCAGACTGTCCTGTGGGCATTGACGGAGGGAAGCAGGAAATGAAAGAAGCTAGAAGTTCCAGAAATGCATGTAAAATTAAAAGCCCTGGATCTGATACAAATGTATTAAGCCAAGAAGCACCCAGCCTTCATAAGCAAACAGGAAAAAAAGAACAATCATTGCTCCTCTTGGTAACTCCTTTCCTCCTTCAAGATCATACTTGGTGTTGTAAAGATTGGAAGAAGGTCGTCAAGGAAAGAATATAATGACAACAACAACGACAGTAAGAGTAGTAGCTAACACTTACTTAGTTCTTCCTATGTGCCA... | ACTAATGTCTTCAGCAGACTGTCCTGTGGGCATTGACGGAGGGAAGCAGGAAATGAAAGAAGCTAGAAGTTCCAGAAATGCATGTAAAATTAAAAGCCCTGGATCTGATACAAATGTATTAAGCCAAGAAGCACCCAGCCTTCATAAGCAAACAGGAAAAAAAGAACAATCATTGCTCCTCTTGGTAACTCCTTTCCTCCTTCAAGATCATACTTGGTGTTGTAAAGATTGGAAGAAGGTCGTCAAGGAAAGAATATAATGACAACAACAACGACAGTAAGAGTAGTAGCTAACACTTACTTAGTTCTTCCTATGTGCCA... |
Task1_train_12663 | A variant was discovered in gene FREM1 (FRAS1 related extracellular matrix 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; BNAR syndrome | ACTAATGTCTTCAGCAGACTGTCCTGTGGGCATTGACGGAGGGAAGCAGGAAATGAAAGAAGCTAGAAGTTCCAGAAATGCATGTAAAATTAAAAGCCCTGGATCTGATACAAATGTATTAAGCCAAGAAGCACCCAGCCTTCATAAGCAAACAGGAAAAAAAGAACAATCATTGCTCCTCTTGGTAACTCCTTTCCTCCTTCAAGATCATACTTGGTGTTGTAAAGATTGGAAGAAGGTCGTCAAGGAAAGAATATAATGACAACAACAACGACAGTAAGAGTAGTAGCTAACACTTACTTAGTTCTTCCTATGTGCCA... | ACTAATGTCTTCAGCAGACTGTCCTGTGGGCATTGACGGAGGGAAGCAGGAAATGAAAGAAGCTAGAAGTTCCAGAAATGCATGTAAAATTAAAAGCCCTGGATCTGATACAAATGTATTAAGCCAAGAAGCACCCAGCCTTCATAAGCAAACAGGAAAAAAAGAACAATCATTGCTCCTCTTGGTAACTCCTTTCCTCCTTCAAGATCATACTTGGTGTTGTAAAGATTGGAAGAAGGTCGTCAAGGAAAGAATATAATGACAACAACAACGACAGTAAGAGTAGTAGCTAACACTTACTTAGTTCTTCCTATGTGCCA... |
Task1_train_12664 | This alteration occurs within gene FREM1 (FRAS1 related extracellular matrix 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Oculotrichoanal syndrome | ACTAATGTCTTCAGCAGACTGTCCTGTGGGCATTGACGGAGGGAAGCAGGAAATGAAAGAAGCTAGAAGTTCCAGAAATGCATGTAAAATTAAAAGCCCTGGATCTGATACAAATGTATTAAGCCAAGAAGCACCCAGCCTTCATAAGCAAACAGGAAAAAAAGAACAATCATTGCTCCTCTTGGTAACTCCTTTCCTCCTTCAAGATCATACTTGGTGTTGTAAAGATTGGAAGAAGGTCGTCAAGGAAAGAATATAATGACAACAACAACGACAGTAAGAGTAGTAGCTAACACTTACTTAGTTCTTCCTATGTGCCA... | ACTAATGTCTTCAGCAGACTGTCCTGTGGGCATTGACGGAGGGAAGCAGGAAATGAAAGAAGCTAGAAGTTCCAGAAATGCATGTAAAATTAAAAGCCCTGGATCTGATACAAATGTATTAAGCCAAGAAGCACCCAGCCTTCATAAGCAAACAGGAAAAAAAGAACAATCATTGCTCCTCTTGGTAACTCCTTTCCTCCTTCAAGATCATACTTGGTGTTGTAAAGATTGGAAGAAGGTCGTCAAGGAAAGAATATAATGACAACAACAACGACAGTAAGAGTAGTAGCTAACACTTACTTAGTTCTTCCTATGTGCCA... |
Task1_train_12665 | This sequence variant lies in FREM1 (FRAS1 related extracellular matrix 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Oculotrichoanal syndrome | ACTAATGTCTTCAGCAGACTGTCCTGTGGGCATTGACGGAGGGAAGCAGGAAATGAAAGAAGCTAGAAGTTCCAGAAATGCATGTAAAATTAAAAGCCCTGGATCTGATACAAATGTATTAAGCCAAGAAGCACCCAGCCTTCATAAGCAAACAGGAAAAAAAGAACAATCATTGCTCCTCTTGGTAACTCCTTTCCTCCTTCAAGATCATACTTGGTGTTGTAAAGATTGGAAGAAGGTCGTCAAGGAAAGAATATAATGACAACAACAACGACAGTAAGAGTAGTAGCTAACACTTACTTAGTTCTTCCTATGTGCCA... | ACTAATGTCTTCAGCAGACTGTCCTGTGGGCATTGACGGAGGGAAGCAGGAAATGAAAGAAGCTAGAAGTTCCAGAAATGCATGTAAAATTAAAAGCCCTGGATCTGATACAAATGTATTAAGCCAAGAAGCACCCAGCCTTCATAAGCAAACAGGAAAAAAAGAACAATCATTGCTCCTCTTGGTAACTCCTTTCCTCCTTCAAGATCATACTTGGTGTTGTAAAGATTGGAAGAAGGTCGTCAAGGAAAGAATATAATGACAACAACAACGACAGTAAGAGTAGTAGCTAACACTTACTTAGTTCTTCCTATGTGCCA... |
Task1_train_12666 | A sequence alteration has been identified in FREM1 (FRAS1 related extracellular matrix 1) on Chromosome 9. Is it disease-inducing or harmless? | Pathogenic; Trigonocephaly 2 | AGCAGAAAGAAGAGGAAGTGAAAAAGAATTTGATAAAGCTTTGAAAATAATGTTAAATTTAGTAGCTGAAAAATCTCACCTTTTACATAGAAAGTCCCATGGGAGTAAAAGACTCCCTTCTCCCTGCTTTTTTCTTCTTTTTTTTACTACACCATAGATGGAAATTTCTTTTATAAGTTTAAAAAACTAGCCTAAAGGAAAGTTACCATTTCTAGTAGGTCTTCAAGTCTCTCCTTTCTTTTCCTCCTTTTCATCCTCTATATAGAACATTGTACATACCTCAGGAACTTGATTGTCCACTGGGAGGATTGTAATGTTAA... | AGCAGAAAGAAGAGGAAGTGAAAAAGAATTTGATAAAGCTTTGAAAATAATGTTAAATTTAGTAGCTGAAAAATCTCACCTTTTACATAGAAAGTCCCATGGGAGTAAAAGACTCCCTTCTCCCTGCTTTTTTCTTCTTTTTTTTACTACACCATAGATGGAAATTTCTTTTATAAGTTTAAAAAACTAGCCTAAAGGAAAGTTACCATTTCTAGTAGGTCTTCAAGTCTCTCCTTTCTTTTCCTCCTTTTCATCCTCTATATAGAACATTGTACATACCTCAGGAACTTGATTGTCCACTGGGAGGATTGTAATGTTAA... |
Task1_train_12667 | This is a variant in FREM1 (FRAS1 related extracellular matrix 1), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; BNAR syndrome | AGCAGAAAGAAGAGGAAGTGAAAAAGAATTTGATAAAGCTTTGAAAATAATGTTAAATTTAGTAGCTGAAAAATCTCACCTTTTACATAGAAAGTCCCATGGGAGTAAAAGACTCCCTTCTCCCTGCTTTTTTCTTCTTTTTTTTACTACACCATAGATGGAAATTTCTTTTATAAGTTTAAAAAACTAGCCTAAAGGAAAGTTACCATTTCTAGTAGGTCTTCAAGTCTCTCCTTTCTTTTCCTCCTTTTCATCCTCTATATAGAACATTGTACATACCTCAGGAACTTGATTGTCCACTGGGAGGATTGTAATGTTAA... | AGCAGAAAGAAGAGGAAGTGAAAAAGAATTTGATAAAGCTTTGAAAATAATGTTAAATTTAGTAGCTGAAAAATCTCACCTTTTACATAGAAAGTCCCATGGGAGTAAAAGACTCCCTTCTCCCTGCTTTTTTCTTCTTTTTTTTACTACACCATAGATGGAAATTTCTTTTATAAGTTTAAAAAACTAGCCTAAAGGAAAGTTACCATTTCTAGTAGGTCTTCAAGTCTCTCCTTTCTTTTCCTCCTTTTCATCCTCTATATAGAACATTGTACATACCTCAGGAACTTGATTGTCCACTGGGAGGATTGTAATGTTAA... |
Task1_train_12668 | A mutation on Chromosome 9 affecting FREM1 (FRAS1 related extracellular matrix 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Oculotrichoanal syndrome | AGCAGAAAGAAGAGGAAGTGAAAAAGAATTTGATAAAGCTTTGAAAATAATGTTAAATTTAGTAGCTGAAAAATCTCACCTTTTACATAGAAAGTCCCATGGGAGTAAAAGACTCCCTTCTCCCTGCTTTTTTCTTCTTTTTTTTACTACACCATAGATGGAAATTTCTTTTATAAGTTTAAAAAACTAGCCTAAAGGAAAGTTACCATTTCTAGTAGGTCTTCAAGTCTCTCCTTTCTTTTCCTCCTTTTCATCCTCTATATAGAACATTGTACATACCTCAGGAACTTGATTGTCCACTGGGAGGATTGTAATGTTAA... | AGCAGAAAGAAGAGGAAGTGAAAAAGAATTTGATAAAGCTTTGAAAATAATGTTAAATTTAGTAGCTGAAAAATCTCACCTTTTACATAGAAAGTCCCATGGGAGTAAAAGACTCCCTTCTCCCTGCTTTTTTCTTCTTTTTTTTACTACACCATAGATGGAAATTTCTTTTATAAGTTTAAAAAACTAGCCTAAAGGAAAGTTACCATTTCTAGTAGGTCTTCAAGTCTCTCCTTTCTTTTCCTCCTTTTCATCCTCTATATAGAACATTGTACATACCTCAGGAACTTGATTGTCCACTGGGAGGATTGTAATGTTAA... |
Task1_train_12669 | A genomic change on Chromosome 9 affects FREM1 (FRAS1 related extracellular matrix 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Oculotrichoanal syndrome | AGCAGAAAGAAGAGGAAGTGAAAAAGAATTTGATAAAGCTTTGAAAATAATGTTAAATTTAGTAGCTGAAAAATCTCACCTTTTACATAGAAAGTCCCATGGGAGTAAAAGACTCCCTTCTCCCTGCTTTTTTCTTCTTTTTTTTACTACACCATAGATGGAAATTTCTTTTATAAGTTTAAAAAACTAGCCTAAAGGAAAGTTACCATTTCTAGTAGGTCTTCAAGTCTCTCCTTTCTTTTCCTCCTTTTCATCCTCTATATAGAACATTGTACATACCTCAGGAACTTGATTGTCCACTGGGAGGATTGTAATGTTAA... | AGCAGAAAGAAGAGGAAGTGAAAAAGAATTTGATAAAGCTTTGAAAATAATGTTAAATTTAGTAGCTGAAAAATCTCACCTTTTACATAGAAAGTCCCATGGGAGTAAAAGACTCCCTTCTCCCTGCTTTTTTCTTCTTTTTTTTACTACACCATAGATGGAAATTTCTTTTATAAGTTTAAAAAACTAGCCTAAAGGAAAGTTACCATTTCTAGTAGGTCTTCAAGTCTCTCCTTTCTTTTCCTCCTTTTCATCCTCTATATAGAACATTGTACATACCTCAGGAACTTGATTGTCCACTGGGAGGATTGTAATGTTAA... |
Task1_train_12670 | This variant affects gene BNC2 (basonuclin zinc finger protein 2) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Lower urinary tract obstruction, congenital | TGAATTATAGTACGACTGCAGAATTTGCAACAAATTAGACAGCCATACAACAGACCGACCCAGTTCAGAGGATTTCTTTTTAAAGGATAAGGGTTAGGGCCTTGGAAATGAGTGTTCGACTCTTTTACTGTATTCATCTTTGTTCCGTAGCGGGTAATTTGGGCTTTTGTATCCTGAAATATTATCCTGCCTCTGAAGAATAAATGCCTTGGCTGTTTCACACCACATAATTTTGTTTTCCTTTTATGTAACTTAACGTATAAGCAAGAAGGATGCAATGTTGATTCTAATAACATTCGGCACTTGAAAGAATCACCAAG... | TGAATTATAGTACGACTGCAGAATTTGCAACAAATTAGACAGCCATACAACAGACCGACCCAGTTCAGAGGATTTCTTTTTAAAGGATAAGGGTTAGGGCCTTGGAAATGAGTGTTCGACTCTTTTACTGTATTCATCTTTGTTCCGTAGCGGGTAATTTGGGCTTTTGTATCCTGAAATATTATCCTGCCTCTGAAGAATAAATGCCTTGGCTGTTTCACACCACATAATTTTGTTTTCCTTTTATGTAACTTAACGTATAAGCAAGAAGGATGCAATGTTGATTCTAATAACATTCGGCACTTGAAAGAATCACCAAG... |
Task1_train_12671 | With a mutation on Chromosome 9 in gene BNC2 (basonuclin zinc finger protein 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Lower Urinary Tract Obstruction | TGAATTATAGTACGACTGCAGAATTTGCAACAAATTAGACAGCCATACAACAGACCGACCCAGTTCAGAGGATTTCTTTTTAAAGGATAAGGGTTAGGGCCTTGGAAATGAGTGTTCGACTCTTTTACTGTATTCATCTTTGTTCCGTAGCGGGTAATTTGGGCTTTTGTATCCTGAAATATTATCCTGCCTCTGAAGAATAAATGCCTTGGCTGTTTCACACCACATAATTTTGTTTTCCTTTTATGTAACTTAACGTATAAGCAAGAAGGATGCAATGTTGATTCTAATAACATTCGGCACTTGAAAGAATCACCAAG... | TGAATTATAGTACGACTGCAGAATTTGCAACAAATTAGACAGCCATACAACAGACCGACCCAGTTCAGAGGATTTCTTTTTAAAGGATAAGGGTTAGGGCCTTGGAAATGAGTGTTCGACTCTTTTACTGTATTCATCTTTGTTCCGTAGCGGGTAATTTGGGCTTTTGTATCCTGAAATATTATCCTGCCTCTGAAGAATAAATGCCTTGGCTGTTTCACACCACATAATTTTGTTTTCCTTTTATGTAACTTAACGTATAAGCAAGAAGGATGCAATGTTGATTCTAATAACATTCGGCACTTGAAAGAATCACCAAG... |
Task1_train_12672 | A variant was discovered on Chromosome 9, affecting FOCAD (focadhesin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Liver disease, severe congenital | GTGCAGCACCGTGAGAAAGAGGTGTTGGCCTGGATGATTCTGCACAGCTTATACCAGGCACGGATTGTGAGCCATGCCAATACGGGTGAGGACACCCTGGGGTGAACATCAGAAACAGGAATAGATCTGCCTGCTGTTGCTTTTAAGTTGCACTTGAGTTCTCAACTTAAAAATTAGTTTAGTGCTTATTGACACAGGTTAGGCCTTCTGGTGCCAAATGAGGAGTAACTTGGATAGAAATTAACAGTTATAGCTCACAACATCCACTTTTTGGAAATGAGGATGGATTCTTTCGAGGGGTTTTGTTTTCTATTTGGCTC... | GTGCAGCACCGTGAGAAAGAGGTGTTGGCCTGGATGATTCTGCACAGCTTATACCAGGCACGGATTGTGAGCCATGCCAATACGGGTGAGGACACCCTGGGGTGAACATCAGAAACAGGAATAGATCTGCCTGCTGTTGCTTTTAAGTTGCACTTGAGTTCTCAACTTAAAAATTAGTTTAGTGCTTATTGACACAGGTTAGGCCTTCTGGTGCCAAATGAGGAGTAACTTGGATAGAAATTAACAGTTATAGCTCACAACATCCACTTTTTGGAAATGAGGATGGATTCTTTCGAGGGGTTTTGTTTTCTATTTGGCTC... |
Task1_train_12673 | A variant was discovered on Chromosome 9, affecting CDKN2A (cyclin dependent kinase inhibitor 2A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... |
Task1_train_12674 | This variant impacts the gene CDKN2A (cyclin dependent kinase inhibitor 2A) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Melanoma and neural system tumor syndrome | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... |
Task1_train_12675 | A change on Chromosome 9 affects gene CDKN2A (cyclin dependent kinase inhibitor 2A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Melanoma-pancreatic cancer syndrome | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... |
Task1_train_12676 | This variant impacts the gene CDKN2A (cyclin dependent kinase inhibitor 2A) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial melanoma | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... |
Task1_train_12677 | Located on Chromosome 9, this mutation impacts CDKN2A (cyclin dependent kinase inhibitor 2A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Melanoma-pancreatic cancer syndrome | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... |
Task1_train_12678 | A genomic change on Chromosome 9 affects CDKN2A (cyclin dependent kinase inhibitor 2A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Melanoma and neural system tumor syndrome | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... |
Task1_train_12679 | Located on Chromosome 9, this mutation impacts CDKN2A (cyclin dependent kinase inhibitor 2A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Melanoma, cutaneous malignant, susceptibility to, 2 | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... | AAAGTCTCTTTTTACGTTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGT... |
Task1_train_12680 | Gene CDKN2A (cyclin dependent kinase inhibitor 2A) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | TTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAA... | TTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAA... |
Task1_train_12681 | A mutation in CDKN2A (cyclin dependent kinase inhibitor 2A), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Familial melanoma | TTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAA... | TTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAA... |
Task1_train_12682 | This variant lies on Chromosome 9 and affects the gene CDKN2A (cyclin dependent kinase inhibitor 2A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Familial melanoma | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... |
Task1_train_12683 | Given this variant in gene CDKN2A (cyclin dependent kinase inhibitor 2A) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Melanoma and neural system tumor syndrome | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... |
Task1_train_12684 | Given this variant in gene CDKN2A (cyclin dependent kinase inhibitor 2A) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Melanoma, cutaneous malignant, susceptibility to, 2 | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... |
Task1_train_12685 | This variant impacts the gene CDKN2A (cyclin dependent kinase inhibitor 2A) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Melanoma-pancreatic cancer syndrome | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... |
Task1_train_12686 | This mutation is located in gene CDKN2A (cyclin dependent kinase inhibitor 2A) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary cancer-predisposing syndrome | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... |
Task1_train_12687 | A variant was discovered in gene CDKN2A (cyclin dependent kinase inhibitor 2A), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Melanoma | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... |
Task1_train_12688 | Here is a genetic alteration in CDKN2A (cyclin dependent kinase inhibitor 2A) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Melanoma, cutaneous malignant, susceptibility to, 2 | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... |
Task1_train_12689 | This gene mutation involves CDKN2A (cyclin dependent kinase inhibitor 2A) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Melanoma and neural system tumor syndrome | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... |
Task1_train_12690 | Located on Chromosome 9, this mutation impacts CDKN2A (cyclin dependent kinase inhibitor 2A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Melanoma-pancreatic cancer syndrome | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... | TCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCA... |
Task1_train_12691 | A variant on Chromosome 9 in gene CDKN2A (cyclin dependent kinase inhibitor 2A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary cancer-predisposing syndrome | TATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAA... | TATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAA... |
Task1_train_12692 | A genomic change on Chromosome 9 affects CDKN2A (cyclin dependent kinase inhibitor 2A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Familial melanoma | TATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAA... | TATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAA... |
Task1_train_12693 | Assess the clinical impact of this variant on gene CDKN2A (cyclin dependent kinase inhibitor 2A), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | CATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTG... | CATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTG... |
Task1_train_12694 | A variant was discovered on Chromosome 9, affecting CDKN2A (cyclin dependent kinase inhibitor 2A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Familial melanoma | CATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTG... | CATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTG... |
Task1_train_12695 | This variant affects gene CDKN2A (cyclin dependent kinase inhibitor 2A) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial melanoma | GCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAG... | GCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAG... |
Task1_train_12696 | A genetic alteration is present in CDKN2A (cyclin dependent kinase inhibitor 2A) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | GCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAG... | GCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAG... |
Task1_train_12697 | This alteration in CDKN2A (cyclin dependent kinase inhibitor 2A) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neoplasm | GCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAG... | GCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAG... |
Task1_train_12698 | Here’s a variant in CDKN2A (cyclin dependent kinase inhibitor 2A) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial melanoma | ATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAGGGCTGATCACGCA... | ATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAGGGCTGATCACGCA... |
Task1_train_12699 | This gene mutation involves CDKN2A (cyclin dependent kinase inhibitor 2A) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | ATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAGGGCTGATCACGCA... | ATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAGGGCTGATCACGCA... |
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