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_11100 | A mutation on Chromosome 7 affecting CDK13 (cyclin dependent kinase 13) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | CTAATGTATTAATTATTCTCATTCTTAGGTGCATTTTATCTGGTGTTTGAATATATGGACCATGATCTGATGGGACTACTGGAATCAGGCTTGGTTCATTTTAATGAAAATCACATAAAGTCATTTATGAGACAGCTCATGGAGGGTCTGGATTATTGTCATAAGAAGAACTTTTTGCATAGAGATATTAAATGTTCCAATATCCTTCTAAATAATAGGTATGGGTATGAACTTTATATATATTTAAAATGAGTTTTACCATGGACATGTACATGGAGAGAATAGACTGGAAACCGTAGCGGCGGGGAATGTCGGGGGTG... | CTAATGTATTAATTATTCTCATTCTTAGGTGCATTTTATCTGGTGTTTGAATATATGGACCATGATCTGATGGGACTACTGGAATCAGGCTTGGTTCATTTTAATGAAAATCACATAAAGTCATTTATGAGACAGCTCATGGAGGGTCTGGATTATTGTCATAAGAAGAACTTTTTGCATAGAGATATTAAATGTTCCAATATCCTTCTAAATAATAGGTATGGGTATGAACTTTATATATATTTAAAATGAGTTTTACCATGGACATGTACATGGAGAGAATAGACTGGAAACCGTAGCGGCGGGGAATGTCGGGGGTG... |
Task1_train_11101 | A mutation in CDK13 (cyclin dependent kinase 13), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | GTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGCGCAGATCACCTGAGGTCAGGAATTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAGTACAAAAATTAGCCAGGAGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGTACTCCAGCCTGGGCGACAAGAGTGAGACTCCAGCGCAAAAAAAAAAAAGGGCGGGGGGGCTAAAGCATAAAGAGGTGAGCATAA... | GTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGCGCAGATCACCTGAGGTCAGGAATTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAGTACAAAAATTAGCCAGGAGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGTACTCCAGCCTGGGCGACAAGAGTGAGACTCCAGCGCAAAAAAAAAAAAGGGCGGGGGGGCTAAAGCATAAAGAGGTGAGCATAA... |
Task1_train_11102 | This sequence change occurs on Chromosome 7, altering MPLKIP (M-phase specific PLK1 interacting protein). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TGAGGCATAGAGAAGTGAACTCATCCAGCTAGTAACTTGTAGAAACAGCATTTCCAAAATCCTGGCTTTCATGGAGCTTTTATTAATCTAAAAGCCTTCCATTCTTATTTTCTAGTCTCTGTGAAATACCTAATGAACAAATTTCTGTGGGTATGGTTCAAATAGGAGGTGTGACCATTTTGTTTTTACACGTTTCTTTCTGGGAATGTTGAAACAAAAGTTTTACTAGCTCTATCTTCGTATTTTGTAACTTCAAAATGCCTAGAGTCTGTGTTACATGTTAAAACACCTGATTTTGGCCGGGCATGGTGGCTCACGCC... | TGAGGCATAGAGAAGTGAACTCATCCAGCTAGTAACTTGTAGAAACAGCATTTCCAAAATCCTGGCTTTCATGGAGCTTTTATTAATCTAAAAGCCTTCCATTCTTATTTTCTAGTCTCTGTGAAATACCTAATGAACAAATTTCTGTGGGTATGGTTCAAATAGGAGGTGTGACCATTTTGTTTTTACACGTTTCTTTCTGGGAATGTTGAAACAAAAGTTTTACTAGCTCTATCTTCGTATTTTGTAACTTCAAAATGCCTAGAGTCTGTGTTACATGTTAAAACACCTGATTTTGGCCGGGCATGGTGGCTCACGCC... |
Task1_train_11103 | This gene mutation involves GLI3 (GLI family zinc finger 3) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Greig cephalopolysyndactyly syndrome, severe | ATTGCTAAAATACATACAGAACTAAAAAAACAGCCAAAACAAAGTCAGTTTAATCTCTTCAACTCCTATTGATTTCCGTTGGTTGCAGTCTTTTTTTCCTAAAGCCTATTGCATAACTGCAAGGAATTTGCTTTCTTCCGCTAGGGAGGTCAGCAAAGAACTCATGTCCCCGATAGCCATGTTGGTGGTGCTCATGGACAGCGCTGGGAATGGGAGGGACGCCCGAGGCGTGGTGAGGCGGGAGGAGCTATGGGAAAGGTTCTGAATGATACTTGGGCTCAGGGCCCCCGACATCAGGCTGGAGTGGTCCCCATCGTCTA... | ATTGCTAAAATACATACAGAACTAAAAAAACAGCCAAAACAAAGTCAGTTTAATCTCTTCAACTCCTATTGATTTCCGTTGGTTGCAGTCTTTTTTTCCTAAAGCCTATTGCATAACTGCAAGGAATTTGCTTTCTTCCGCTAGGGAGGTCAGCAAAGAACTCATGTCCCCGATAGCCATGTTGGTGGTGCTCATGGACAGCGCTGGGAATGGGAGGGACGCCCGAGGCGTGGTGAGGCGGGAGGAGCTATGGGAAAGGTTCTGAATGATACTTGGGCTCAGGGCCCCCGACATCAGGCTGGAGTGGTCCCCATCGTCTA... |
Task1_train_11104 | Gene GLI3 (GLI family zinc finger 3), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pallister-Hall syndrome | TGCCATTAAAAGTAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACGTGAGGATA... | TGCCATTAAAAGTAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACGTGAGGATA... |
Task1_train_11105 | A genetic alteration is present in GLI3 (GLI family zinc finger 3) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Greig cephalopolysyndactyly syndrome | TGCCATTAAAAGTAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACGTGAGGATA... | TGCCATTAAAAGTAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACGTGAGGATA... |
Task1_train_11106 | Given a variant located on Chromosome 7 and affecting GLI3 (GLI family zinc finger 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Greig cephalopolysyndactyly syndrome | TAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACGTGAGGATAAACCGTTGAATG... | TAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACGTGAGGATAAACCGTTGAATG... |
Task1_train_11107 | This variant lies on Chromosome 7 and affects the gene AEBP1 (AE binding protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GACCAGAGCTGCCCTCTGACTGTGCCCCCGATGTGCCGGGAGTGGGCTCTGGGCTCCTTGGTTCTGGGTTTGGTGGAGGGAAGGATGGAGCTAGTGAGCCACCATTCTGGGGTACGCGTCCTCAGAGTGTCCCCCCATTGGGATGGAGTCACACCGTATTGAGGACAACCAGATCCGAGCCTCCTCCATGCTGCGCCACGGCCTGGGGGCACAGCGCGGCCGGCTCAACATGCAGGTGGGCATTGGGATGGGCCCATCTCCCAACTGGGATAAGGGACTCCTCCGCCCATGCTCAGCCTCCCCTGCCCCCTGGACAGACC... | GACCAGAGCTGCCCTCTGACTGTGCCCCCGATGTGCCGGGAGTGGGCTCTGGGCTCCTTGGTTCTGGGTTTGGTGGAGGGAAGGATGGAGCTAGTGAGCCACCATTCTGGGGTACGCGTCCTCAGAGTGTCCCCCCATTGGGATGGAGTCACACCGTATTGAGGACAACCAGATCCGAGCCTCCTCCATGCTGCGCCACGGCCTGGGGGCACAGCGCGGCCGGCTCAACATGCAGGTGGGCATTGGGATGGGCCCATCTCCCAACTGGGATAAGGGACTCCTCCGCCCATGCTCAGCCTCCCCTGCCCCCTGGACAGACC... |
Task1_train_11108 | With a mutation on Chromosome 7 in gene GCK (glucokinase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | CCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCC... | CCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCC... |
Task1_train_11109 | A genetic alteration is present in GCK (glucokinase) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAA... | CTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAA... |
Task1_train_11110 | This variant lies on Chromosome 7 and affects the gene GCK (glucokinase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Monogenic diabetes | CGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAA... | CGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAA... |
Task1_train_11111 | A variant affecting Chromosome 7, within the gene GCK (glucokinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Maturity-onset diabetes of the young type 2 | GGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCAC... | GGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCAC... |
Task1_train_11112 | The gene GCK (glucokinase) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Monogenic diabetes | TAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTT... | TAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTT... |
Task1_train_11113 | A variant found in Chromosome 7 affects GCK (glucokinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hyperinsulinism due to glucokinase deficiency | AGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGG... | AGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGG... |
Task1_train_11114 | Here’s a variant in GCK (glucokinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Monogenic diabetes | CTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCC... | CTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCC... |
Task1_train_11115 | The gene GCK (glucokinase) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Monogenic diabetes | GCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATG... | GCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATG... |
Task1_train_11116 | The gene GCK (glucokinase), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Monogenic diabetes | CTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGA... | CTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGA... |
Task1_train_11117 | Here is a genetic alteration in GCK (glucokinase) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Maturity-onset diabetes of the young type 2 | TGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGC... | TGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGC... |
Task1_train_11118 | Consider a variant on Chromosome 7 in gene GCK (glucokinase). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGT... | CCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGT... |
Task1_train_11119 | This alteration occurs within gene GCK (glucokinase) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | GTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACT... | GTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACT... |
Task1_train_11120 | Located on Chromosome 7, this mutation impacts GCK (glucokinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Maturity-onset diabetes of the young type 2 | AAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGG... | AAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGG... |
Task1_train_11121 | A change on Chromosome 7 affects gene GCK (glucokinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Maturity-onset diabetes of the young type 2 | AAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGG... | AAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGG... |
Task1_train_11122 | Here is a mutation in GCK (glucokinase) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACT... | GCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACT... |
Task1_train_11123 | This genomic variant is located on Chromosome 7, within the GCK (glucokinase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Monogenic diabetes | AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGG... | AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGG... |
Task1_train_11124 | Here’s a variant in GCK (glucokinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Permanent neonatal diabetes mellitus 1 | AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGG... | AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGG... |
Task1_train_11125 | A sequence alteration has been identified in GCK (glucokinase) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Maturity-onset diabetes of the young type 2 | AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGG... | AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGG... |
Task1_train_11126 | The gene GCK (glucokinase) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Type 2 diabetes mellitus | AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGG... | AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGG... |
Task1_train_11127 | This sequence change occurs on Chromosome 7, altering GCK (glucokinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hyperinsulinism due to glucokinase deficiency | AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGG... | AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGG... |
Task1_train_11128 | A variant found in Chromosome 7 affects GCK (glucokinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Maturity-onset diabetes of the young type 2 | AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGG... | AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGG... |
Task1_train_11129 | Here is a mutation in GCK (glucokinase) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Monogenic diabetes | CCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCAT... | CCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCAT... |
Task1_train_11130 | Here’s a variant in GCK (glucokinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Monogenic diabetes | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... |
Task1_train_11131 | Here is a variant affecting GCK (glucokinase) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Maturity-onset diabetes of the young type 2 | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... |
Task1_train_11132 | The gene GCK (glucokinase) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Maturity-onset diabetes of the young type 2 | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... |
Task1_train_11133 | The variant affects gene GCK (glucokinase), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Permanent neonatal diabetes mellitus | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... |
Task1_train_11134 | This is a variant in GCK (glucokinase), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Type 2 diabetes mellitus | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... |
Task1_train_11135 | A change on Chromosome 7 affects gene GCK (glucokinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hyperinsulinism due to glucokinase deficiency | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... |
Task1_train_11136 | A genomic change on Chromosome 7 affects GCK (glucokinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Maturity onset diabetes mellitus in young | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... | TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGT... |
Task1_train_11137 | Here is a variant affecting GCK (glucokinase) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Maturity-onset diabetes of the young type 2 | TGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAG... | TGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAG... |
Task1_train_11138 | This genomic variant is located on Chromosome 7, within the GCK (glucokinase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | GGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGA... | GGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGA... |
Task1_train_11139 | This mutation is located in gene GCK (glucokinase) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Gestational diabetes | GCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATG... | GCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATG... |
Task1_train_11140 | Here’s a variant in GCK (glucokinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Maturity onset diabetes mellitus in young | CTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGC... | CTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGC... |
Task1_train_11141 | A variant has been detected on Chromosome 7 in GCK (glucokinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Monogenic diabetes | ATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGC... | ATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGC... |
Task1_train_11142 | This mutation is located in gene GCK (glucokinase) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Maturity onset diabetes mellitus in young | AGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTC... | AGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTC... |
Task1_train_11143 | A variant was discovered on Chromosome 7, affecting GCK (glucokinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Monogenic diabetes | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... |
Task1_train_11144 | A mutation on Chromosome 7 affecting GCK (glucokinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Maturity-onset diabetes of the young type 2 | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... |
Task1_train_11145 | Consider this mutation in GCK (glucokinase) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Permanent neonatal diabetes mellitus | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... |
Task1_train_11146 | A mutation found in GCK (glucokinase) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Type 2 diabetes mellitus | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... |
Task1_train_11147 | A variant affecting Chromosome 7, within the gene GCK (glucokinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hyperinsulinism due to glucokinase deficiency | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... |
Task1_train_11148 | Here is a mutation in GCK (glucokinase) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Maturity onset diabetes mellitus in young | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... |
Task1_train_11149 | An alteration has been detected in GCK (glucokinase) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Maturity-onset diabetes of the young type 2 | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... | GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGG... |
Task1_train_11150 | This gene mutation involves GCK (glucokinase) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Monogenic diabetes | CCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAG... | CCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAG... |
Task1_train_11151 | This variant affects the gene GCK (glucokinase) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTT... | TATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTT... |
Task1_train_11152 | Chromosome 7 houses a mutation in gene GCK (glucokinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Monogenic diabetes | TGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTT... | TGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTT... |
Task1_train_11153 | Mutation context: Chromosome 7, Gene GCK (glucokinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Monogenic diabetes | GTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGC... | GTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGC... |
Task1_train_11154 | An alteration has been detected in GCK (glucokinase) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Maturity onset diabetes mellitus in young | CTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTT... | CTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTT... |
Task1_train_11155 | Here’s a variant in GCK (glucokinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Maturity-onset diabetes of the young type 2 | CTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTT... | CTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTT... |
Task1_train_11156 | Consider this mutation in GCK (glucokinase) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Monogenic diabetes | TGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCT... | TGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCT... |
Task1_train_11157 | The gene GCK (glucokinase) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Maturity-onset diabetes of the young type 2 | CAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCC... | CAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCC... |
Task1_train_11158 | Assess the clinical impact of this variant on gene GCK (glucokinase), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Monogenic diabetes | TGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCT... | TGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCT... |
Task1_train_11159 | Gene GCK (glucokinase), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Maturity-onset diabetes of the young type 2 | GCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAA... | GCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAA... |
Task1_train_11160 | A genomic change on Chromosome 7 affects GCK (glucokinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Maturity-onset diabetes of the young type 2 | CAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGC... | CAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGC... |
Task1_train_11161 | A genomic change on Chromosome 7 affects GCK (glucokinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Monogenic diabetes | TGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGC... | TGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGC... |
Task1_train_11162 | A variant affecting Chromosome 7, within the gene GCK (glucokinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Monogenic diabetes | CCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCC... | CCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCC... |
Task1_train_11163 | A variant has been detected on Chromosome 7 in GCK (glucokinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Monogenic diabetes | TGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGAC... | TGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGAC... |
Task1_train_11164 | Here’s a variant in GCK (glucokinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Monogenic diabetes | TCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCT... | TCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCT... |
Task1_train_11165 | A mutation on Chromosome 7 affecting CAMK2B (calcium/calmodulin dependent protein kinase II beta) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Intellectual disability, autosomal dominant 54 | GGGCGGACACAGACGAGGGGTGGGCGAGGTAAGGGAAGAAAAGAGACAAAGGAAGCAGAAGAAGATTAGAGTTAAAGTTTAGGTGACAGATGGTTCCAGAATCCTTTGCTCAAGAGAGTGAAAACAAGATTGGACTGATTGACACGGAAAAGCATTTGCCTCCTTTCTCCTTAGAAAACCCCAGTGGGGGCTTCTCATGCCCAAAGGGTGTGGTGAGCACACAGCAGACAGGACAGTCCTATTAGTGTTGGTGTGACCGTGTGCACGCGTTCCCGGCATTACAGCATCACAGCAAAAGTAACAGGATGGCGGGTGGGGGG... | GGGCGGACACAGACGAGGGGTGGGCGAGGTAAGGGAAGAAAAGAGACAAAGGAAGCAGAAGAAGATTAGAGTTAAAGTTTAGGTGACAGATGGTTCCAGAATCCTTTGCTCAAGAGAGTGAAAACAAGATTGGACTGATTGACACGGAAAAGCATTTGCCTCCTTTCTCCTTAGAAAACCCCAGTGGGGGCTTCTCATGCCCAAAGGGTGTGGTGAGCACACAGCAGACAGGACAGTCCTATTAGTGTTGGTGTGACCGTGTGCACGCGTTCCCGGCATTACAGCATCACAGCAAAAGTAACAGGATGGCGGGTGGGGGG... |
Task1_train_11166 | A genomic change on Chromosome 7 affects CAMK2B (calcium/calmodulin dependent protein kinase II beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | AACTTGGAAGGAGGCCCCCGAGCCTCCCGCATCACCCCGCATCCCTTCTGCCCACCTCCCGCACAAAACACAATGTTCAGAGCACTCAAAATGACAAGGAGGCCACATAGATGCCCGACAAACGCCTGGACAGACACACACGATGCTGTGAGCCCCAGTGGGGCAGCACAGACGCTCGTGTTCAGGGGGTGGAGGGACACAGACCCAGCACGAAGGTGATGGCCTCGGGGGGCTGGACCCTGTGGTATCACCCAAGGTGGGAGCCCAGCGGGGCCAGGTGGGCAGTGGGTCTCAGAGCTGAGGGCAGACGCCGAGGGCAG... | AACTTGGAAGGAGGCCCCCGAGCCTCCCGCATCACCCCGCATCCCTTCTGCCCACCTCCCGCACAAAACACAATGTTCAGAGCACTCAAAATGACAAGGAGGCCACATAGATGCCCGACAAACGCCTGGACAGACACACACGATGCTGTGAGCCCCAGTGGGGCAGCACAGACGCTCGTGTTCAGGGGGTGGAGGGACACAGACCCAGCACGAAGGTGATGGCCTCGGGGGGCTGGACCCTGTGGTATCACCCAAGGTGGGAGCCCAGCGGGGCCAGGTGGGCAGTGGGTCTCAGAGCTGAGGGCAGACGCCGAGGGCAG... |
Task1_train_11167 | An alteration has been detected in CAMK2B (calcium/calmodulin dependent protein kinase II beta) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | CTCAGAGCTGAGGGCAGACGCCGAGGGCAGGCCTGCCGCAGAGGAGGAGTGGAGAGGCTGGTGAGGAAGGAGGCGCTCTCCTGCGTGGGCCAGCAGGGAGGGGGCAGCGCCTGTCTCCCTGGAGAAGAAAGGCTCACCTGAGAAATTCCGTGTGGCCAGCATGGTGGTGAGGATGGCTCCCTGGGGAGAGACACAGATAAAACCGGGGCTATCCCATCAGTGTTCCCTGCTGGCTTCTGGCCAGGATAAGACCCCTGTCCTCCTGCCCAGATGCTCAGCCTCATTGTCATGAGGCTGACATGACCTCAGCCTTCCAGAGA... | CTCAGAGCTGAGGGCAGACGCCGAGGGCAGGCCTGCCGCAGAGGAGGAGTGGAGAGGCTGGTGAGGAAGGAGGCGCTCTCCTGCGTGGGCCAGCAGGGAGGGGGCAGCGCCTGTCTCCCTGGAGAAGAAAGGCTCACCTGAGAAATTCCGTGTGGCCAGCATGGTGGTGAGGATGGCTCCCTGGGGAGAGACACAGATAAAACCGGGGCTATCCCATCAGTGTTCCCTGCTGGCTTCTGGCCAGGATAAGACCCCTGTCCTCCTGCCCAGATGCTCAGCCTCATTGTCATGAGGCTGACATGACCTCAGCCTTCCAGAGA... |
Task1_train_11168 | Given this variant in gene CAMK2B (calcium/calmodulin dependent protein kinase II beta) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Intellectual disability, autosomal dominant 54 | GTGAGGGGCCTGTGATGGGGCACGGGCAGGGGGTGGGGGTGGGGGAGGGTGGGGCTGTGGTCTAAGGCACTCCTGAACCCTAGCTGTGGGATCCGATCTGCTGATGGGAGGCTCTAGGAGGCCACATGCCCCCACCCTTGCCCAGCATCTGTCCACCCCTCAGGGCACTCCACCCATCCCAGGATCCCACCTGCCCCAGCAGGTGTCTGGATGGGCCACCAGGGACCCTCGAGTCCACCTGGCCAGCAGGCAGGCAGCAGCAGGCTCTGTGACATATCTCACCCCAGAAGCTCAGAGCAGGGGGACAGGGCTCCGTTCCA... | GTGAGGGGCCTGTGATGGGGCACGGGCAGGGGGTGGGGGTGGGGGAGGGTGGGGCTGTGGTCTAAGGCACTCCTGAACCCTAGCTGTGGGATCCGATCTGCTGATGGGAGGCTCTAGGAGGCCACATGCCCCCACCCTTGCCCAGCATCTGTCCACCCCTCAGGGCACTCCACCCATCCCAGGATCCCACCTGCCCCAGCAGGTGTCTGGATGGGCCACCAGGGACCCTCGAGTCCACCTGGCCAGCAGGCAGGCAGCAGCAGGCTCTGTGACATATCTCACCCCAGAAGCTCAGAGCAGGGGGACAGGGCTCCGTTCCA... |
Task1_train_11169 | With a mutation on Chromosome 7 in gene OGDH (oxoglutarate dehydrogenase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Oxoglutaricaciduria | GGAAGAATATGTGTACTCCGCTTTCACAAAGCACTCATATATAGATCTAGTTTCTCAAATAGCTAAAGAACTAAAAGTGTACCAGCAGTTCTGAGGCTCAGCAGTATAGCCCAAGAACTATGAACTCAGGATGATAGAAGTGAAAGACCATCACATGGTGAGGTCAAGGGATATCTGTAGGCACCTACTTCACAGGGTCCATGCTGAAAGACTGCAACCAATACACAGCGCTTATCTGGGGGCATACACTGGACCGATATAGTTTCACAATCAAAATATTTCCCAACAAAATGTGCACTGTTATTCTGGTCCCCAGTCAG... | GGAAGAATATGTGTACTCCGCTTTCACAAAGCACTCATATATAGATCTAGTTTCTCAAATAGCTAAAGAACTAAAAGTGTACCAGCAGTTCTGAGGCTCAGCAGTATAGCCCAAGAACTATGAACTCAGGATGATAGAAGTGAAAGACCATCACATGGTGAGGTCAAGGGATATCTGTAGGCACCTACTTCACAGGGTCCATGCTGAAAGACTGCAACCAATACACAGCGCTTATCTGGGGGCATACACTGGACCGATATAGTTTCACAATCAAAATATTTCCCAACAAAATGTGCACTGTTATTCTGGTCCCCAGTCAG... |
Task1_train_11170 | A mutation found in OGDH (oxoglutarate dehydrogenase) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Oxoglutaricaciduria | GGTCTGTAAAGTGTCTGTTGGCCCACATTAGGGCCTATCTTCTTTTTATTCCATGCTGACTTGCAGTTTGCTCTCAGACTCTCATTCTGGTCCTCCAGGGCAGCTGTGCAGGTCGAGTTTTGGGCCTCTGCAGGAGTACCAGGATGAGGGCAGCCCGAGAGGGATTTCTTTTTGTTTTTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCGTCAGCCTCCTGAGTGGCTGGGATAAC... | GGTCTGTAAAGTGTCTGTTGGCCCACATTAGGGCCTATCTTCTTTTTATTCCATGCTGACTTGCAGTTTGCTCTCAGACTCTCATTCTGGTCCTCCAGGGCAGCTGTGCAGGTCGAGTTTTGGGCCTCTGCAGGAGTACCAGGATGAGGGCAGCCCGAGAGGGATTTCTTTTTGTTTTTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCGTCAGCCTCCTGAGTGGCTGGGATAAC... |
Task1_train_11171 | Gene OGDH (oxoglutarate dehydrogenase) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Oxoglutaricaciduria | TTATTCCATGCTGACTTGCAGTTTGCTCTCAGACTCTCATTCTGGTCCTCCAGGGCAGCTGTGCAGGTCGAGTTTTGGGCCTCTGCAGGAGTACCAGGATGAGGGCAGCCCGAGAGGGATTTCTTTTTGTTTTTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCGTCAGCCTCCTGAGTGGCTGGGATAACAGGCACATGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGA... | TTATTCCATGCTGACTTGCAGTTTGCTCTCAGACTCTCATTCTGGTCCTCCAGGGCAGCTGTGCAGGTCGAGTTTTGGGCCTCTGCAGGAGTACCAGGATGAGGGCAGCCCGAGAGGGATTTCTTTTTGTTTTTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCGTCAGCCTCCTGAGTGGCTGGGATAACAGGCACATGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGA... |
Task1_train_11172 | Gene OGDH (oxoglutarate dehydrogenase) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Oxoglutaricaciduria | CCCAGGAGTTCAAGACCAGCCTGGGTAACATAGTGAGACCTCATCTCTCCAAAAAATTCAAAACATGAGGCAAGAAGATCACTTGAGCTCAAGAGGTTGAGGCTGCAACGGGCTCTGATAGCGCTACTGCACTCCCGCCTCGATGACAGAGACCCTGCCTCAAAAAAATAAATAAATAAATAAATAATTTTTAAAACCTGCAAATCTTTAACAGCCATTGAGCCTATGACACCCTATGGGCATTTCCTGTCATGGGTGCTGGTACAGGTCTGACCTTGATGACAGCCTGTCTTCCCTGGGGAAGGACCCAGTTCCACAAC... | CCCAGGAGTTCAAGACCAGCCTGGGTAACATAGTGAGACCTCATCTCTCCAAAAAATTCAAAACATGAGGCAAGAAGATCACTTGAGCTCAAGAGGTTGAGGCTGCAACGGGCTCTGATAGCGCTACTGCACTCCCGCCTCGATGACAGAGACCCTGCCTCAAAAAAATAAATAAATAAATAAATAATTTTTAAAACCTGCAAATCTTTAACAGCCATTGAGCCTATGACACCCTATGGGCATTTCCTGTCATGGGTGCTGGTACAGGTCTGACCTTGATGACAGCCTGTCTTCCCTGGGGAAGGACCCAGTTCCACAAC... |
Task1_train_11173 | A sequence alteration has been identified in CCM2, LOC129998395 (CCM2 scaffold protein| ATAC-STARR-seq lymphoblastoid silent region 18162) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Cerebral cavernous malformation 2 | TCCCCAGGCCAACAGCCTCAAATGAGGACATCCCTGGAGGCTTCCCTTTTTTCACTATAAAGCTTACCCACTCCTCTGCCTGACATTGAGTCTCATCCAAATACAAATGATGGTGGCTGACTCCCTTGTTATAGCAAGCTAACAGCCTTTTTGCTTTTCTCATTTTATTGTCTTTATTCCCAGTTATCACCATCTGATCATTAGCCAGTGGACTTTTGCTTGAAGCATGAACCTGTGTATGCAAAGACAGGGCAAAGGTATTCTGATGGATAAGAACAGCCTGAGGAAGTCAGCACATCCAGAGTTAGGCTAAGAGAAGT... | TCCCCAGGCCAACAGCCTCAAATGAGGACATCCCTGGAGGCTTCCCTTTTTTCACTATAAAGCTTACCCACTCCTCTGCCTGACATTGAGTCTCATCCAAATACAAATGATGGTGGCTGACTCCCTTGTTATAGCAAGCTAACAGCCTTTTTGCTTTTCTCATTTTATTGTCTTTATTCCCAGTTATCACCATCTGATCATTAGCCAGTGGACTTTTGCTTGAAGCATGAACCTGTGTATGCAAAGACAGGGCAAAGGTATTCTGATGGATAAGAACAGCCTGAGGAAGTCAGCACATCCAGAGTTAGGCTAAGAGAAGT... |
Task1_train_11174 | A variant was discovered on Chromosome 7, affecting CCM2 (CCM2 scaffold protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cerebral cavernous malformation 2 | GTTTACTTGGTGCCTGCTATGTGCAAGCAAGTCTCTGTGCCTCTTTGGACCAAAAGTACGCTGGTATTTGGGATAGCACAGGAGTGGGGAAGTTGGGGGCCAGGTCTAGCTGCAATAGGGTCCATGTGGCAGGAGCTGCTTGGAGGGTGATGACTTGAGTTGGTGCCAGATGGGGCAGGGTCACCCGTGCACCCGTGGTAGCACTTCCTGGATGATATAGGAGAGGCACACAACTCGCTGCCCGCATCCTTAGGCTGCCCACCCTGCTTCCTTGAGAACTACCACAGGCACACACCAGGGAGCCAACATTTAAAAATGTT... | GTTTACTTGGTGCCTGCTATGTGCAAGCAAGTCTCTGTGCCTCTTTGGACCAAAAGTACGCTGGTATTTGGGATAGCACAGGAGTGGGGAAGTTGGGGGCCAGGTCTAGCTGCAATAGGGTCCATGTGGCAGGAGCTGCTTGGAGGGTGATGACTTGAGTTGGTGCCAGATGGGGCAGGGTCACCCGTGCACCCGTGGTAGCACTTCCTGGATGATATAGGAGAGGCACACAACTCGCTGCCCGCATCCTTAGGCTGCCCACCCTGCTTCCTTGAGAACTACCACAGGCACACACCAGGGAGCCAACATTTAAAAATGTT... |
Task1_train_11175 | A genomic change on Chromosome 7 affects IKZF1 (IKAROS family zinc finger 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inherited Immunodeficiency Diseases | TAGGGTCATACCACAAACACTGTTGTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTT... | TAGGGTCATACCACAAACACTGTTGTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTT... |
Task1_train_11176 | A mutation in IKZF1 (IKAROS family zinc finger 1), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Immunodeficiency | TAGGGTCATACCACAAACACTGTTGTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTT... | TAGGGTCATACCACAAACACTGTTGTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTT... |
Task1_train_11177 | A variant was discovered on Chromosome 7, affecting IKZF1 (IKAROS family zinc finger 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | ACCACAAACACTGTTGTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTA... | ACCACAAACACTGTTGTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTA... |
Task1_train_11178 | A mutation found in IKZF1 (IKAROS family zinc finger 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inherited Immunodeficiency Diseases | GTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCAT... | GTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCAT... |
Task1_train_11179 | A mutation on Chromosome 7 affecting IKZF1 (IKAROS family zinc finger 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pancytopenia due to IKZF1 mutations | GAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCATCGGTTTGTAACTCAGACAGTATAGTTAGTTAGTTTGTTTCACCATCACCTTCCAACCTGCTTACGTTTAAACTCCTTCTCTCTG... | GAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCATCGGTTTGTAACTCAGACAGTATAGTTAGTTAGTTTGTTTCACCATCACCTTCCAACCTGCTTACGTTTAAACTCCTTCTCTCTG... |
Task1_train_11180 | Here’s a variant in IKZF1 (IKAROS family zinc finger 1) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pancytopenia due to IKZF1 mutations | TGACTCCCCTGTCCCATGAAAAACCAGGATCAACATCACAGCTTTCTCTAGCAACTGGTGGTGGCCTGAGGTCTTATGAACTAGCATGTTAGCAGGGATAGAGTTAGGGAATTTGTCCGATGCTGACAGCAAGAGGGTGCTGGGGGAGCTGGAGGGGTGGAGAAGTGATCTCCCTTCCTGCCTCATGGCTTCCTTTGGAAGTTGCAAGCTTAGAATTTCTTTCCCAAAGAATATTGGACTATGCTTCAAGAGACACTTGAGTTCAGTTGCTTACAGTGAACATACTTCTTATGTTCCAGAGTTAAACTCAATCATATTTT... | TGACTCCCCTGTCCCATGAAAAACCAGGATCAACATCACAGCTTTCTCTAGCAACTGGTGGTGGCCTGAGGTCTTATGAACTAGCATGTTAGCAGGGATAGAGTTAGGGAATTTGTCCGATGCTGACAGCAAGAGGGTGCTGGGGGAGCTGGAGGGGTGGAGAAGTGATCTCCCTTCCTGCCTCATGGCTTCCTTTGGAAGTTGCAAGCTTAGAATTTCTTTCCCAAAGAATATTGGACTATGCTTCAAGAGACACTTGAGTTCAGTTGCTTACAGTGAACATACTTCTTATGTTCCAGAGTTAAACTCAATCATATTTT... |
Task1_train_11181 | The variant affects gene DDC (dopa decarboxylase), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase | AGTGTCAACTAGAATCTCTGCCTAATTTTCTACCCTCTGTAAAATAAGAATAGTTCCTACTTTCTCTCAGAGCTATGACCACATGAATATGTGTAATAAACTCAAATAAGTACAAGTAAAATCAAGATATTAAGATTTTTATTGTTCTAATCTGTCCAAAACAACATACATGCATTAGGACTTACTATTGTATCACATATCTTTTTAAAAATTGAATTTCATTTTTACCTTTTGAATCTACAGCAAATATAATGACTCCAGAGGAACTGAGACTCCTATCGGAAACACACCTTTGCTGATAAATTTTCAGAGCTACACTC... | AGTGTCAACTAGAATCTCTGCCTAATTTTCTACCCTCTGTAAAATAAGAATAGTTCCTACTTTCTCTCAGAGCTATGACCACATGAATATGTGTAATAAACTCAAATAAGTACAAGTAAAATCAAGATATTAAGATTTTTATTGTTCTAATCTGTCCAAAACAACATACATGCATTAGGACTTACTATTGTATCACATATCTTTTTAAAAATTGAATTTCATTTTTACCTTTTGAATCTACAGCAAATATAATGACTCCAGAGGAACTGAGACTCCTATCGGAAACACACCTTTGCTGATAAATTTTCAGAGCTACACTC... |
Task1_train_11182 | This variant lies on Chromosome 7 and affects the gene DDC (dopa decarboxylase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase | GGCAATATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGCCTCAGCCT... | GGCAATATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGCCTCAGCCT... |
Task1_train_11183 | Here is a mutation in DDC (dopa decarboxylase) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; RASopathy | GGCAATATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGCCTCAGCCT... | GGCAATATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGCCTCAGCCT... |
Task1_train_11184 | This gene mutation involves DDC (dopa decarboxylase) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase | ATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGCCTCAGCCTCCCGAG... | ATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGCCTCAGCCTCCCGAG... |
Task1_train_11185 | This variant affects the gene DDC (dopa decarboxylase) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase | CCTTTACGACACATGGCCTCTCATTAGTAAGGGAGCTTGTTAAACAAACATAACATCAATAGCAGCATCTGGCAATGATTCACAGAAACCACTGCAAATGAAACAACAACACTCAACAGAGTGCATGCAGAAAGCACTCAGTAAGAAATTGTCGACGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGCAAATCGCTTGAGCTCAGGAGTTCAAGACTAGCTTTGGCAACATGGTGAAACCCCGTCTCTACCAAAAAAAAAAAAAAATACAAAAAATTATCTGGGCCTTGTGCTGTA... | CCTTTACGACACATGGCCTCTCATTAGTAAGGGAGCTTGTTAAACAAACATAACATCAATAGCAGCATCTGGCAATGATTCACAGAAACCACTGCAAATGAAACAACAACACTCAACAGAGTGCATGCAGAAAGCACTCAGTAAGAAATTGTCGACGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGCAAATCGCTTGAGCTCAGGAGTTCAAGACTAGCTTTGGCAACATGGTGAAACCCCGTCTCTACCAAAAAAAAAAAAAAATACAAAAAATTATCTGGGCCTTGTGCTGTA... |
Task1_train_11186 | A variant was discovered in gene DDC (dopa decarboxylase), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase | TCAGCCCTGCCCTGCTCAAGGGTGGTTCTAGGGCTTCCTTTGTGGAAGGCATCTGAGGACGCCTGCCCCTTGCAAAACAAAAGCATGTAGGGAGAGCCACTTGTTCCCGCCAGAGCCTGTGGATGCTCTGCCTGGTCCTTCCGAACTCCAGCCACCTTAGAGGATTTTCCCCACTGACCAAAAACCTCAGCAGAGCGGATTTACATTTCAATCAAAATTACCCCTCGAATAAAGGGACCTCTGGCACACGGTGCAAACTGTCCTCACTGTGTTCCACCTTGGGTGAAACAGAAAAACACAACCACAAGAATACAAAAGAA... | TCAGCCCTGCCCTGCTCAAGGGTGGTTCTAGGGCTTCCTTTGTGGAAGGCATCTGAGGACGCCTGCCCCTTGCAAAACAAAAGCATGTAGGGAGAGCCACTTGTTCCCGCCAGAGCCTGTGGATGCTCTGCCTGGTCCTTCCGAACTCCAGCCACCTTAGAGGATTTTCCCCACTGACCAAAAACCTCAGCAGAGCGGATTTACATTTCAATCAAAATTACCCCTCGAATAAAGGGACCTCTGGCACACGGTGCAAACTGTCCTCACTGTGTTCCACCTTGGGTGAAACAGAAAAACACAACCACAAGAATACAAAAGAA... |
Task1_train_11187 | A mutation in DDC (dopa decarboxylase), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase | GGCAGGAGAATCACTTGAACCCAGGAGGCAGATGTTGCAGTGAGCTGAGATTGTGCCACTCCAGCCTGGGCCACAGAGCAAGACTCCATCTCAAAAATAAAGAAAAAAAAAGGAATTGTCAAAACTGACCTCCCCTATGCATTCTGCCAATGGATGAAAGGGTTTTGGCATTCACCCATGTCAGCTCCTTCTGCACAACCCCAAAAGCAACCTCAGTGTTTCAAACCAAACAAATCATAAATCAAGCTCTGTGCACAGCCTCCAGCCTCTACAAAGAAGAGGGGGCCCCAGATAGCAGGAAGGCCTGAGCTGGATCCATC... | GGCAGGAGAATCACTTGAACCCAGGAGGCAGATGTTGCAGTGAGCTGAGATTGTGCCACTCCAGCCTGGGCCACAGAGCAAGACTCCATCTCAAAAATAAAGAAAAAAAAAGGAATTGTCAAAACTGACCTCCCCTATGCATTCTGCCAATGGATGAAAGGGTTTTGGCATTCACCCATGTCAGCTCCTTCTGCACAACCCCAAAAGCAACCTCAGTGTTTCAAACCAAACAAATCATAAATCAAGCTCTGTGCACAGCCTCCAGCCTCTACAAAGAAGAGGGGGCCCCAGATAGCAGGAAGGCCTGAGCTGGATCCATC... |
Task1_train_11188 | A sequence alteration has been identified in DDC (dopa decarboxylase) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase | ACATTTTCAGTGATGTTTCCTGCATTGTTTTCATTCTTGAAACCTAAAAGAGTGTGTTTTGACAGATTTATTTTTCCCTAGACAGAGTATTCTGAGTCTTAATATTGACACTATAGGTTCAAAGAAATTCACCTTATTTAAATAGAATCTATTCAAATTGTACTGAAATTGTTTGTGGGAATTTTAAGGGAGATCTTTCTTTCTACCTGAATGATCTTTCTTCCAAATCTTTATTTGTTTGACAAATATTTATCGAGCTTCTGTTCAGTGCCAGGCACTGTTTCAGGAGCTAGGGATAAGGCAGGGATTCAAATGGACCT... | ACATTTTCAGTGATGTTTCCTGCATTGTTTTCATTCTTGAAACCTAAAAGAGTGTGTTTTGACAGATTTATTTTTCCCTAGACAGAGTATTCTGAGTCTTAATATTGACACTATAGGTTCAAAGAAATTCACCTTATTTAAATAGAATCTATTCAAATTGTACTGAAATTGTTTGTGGGAATTTTAAGGGAGATCTTTCTTTCTACCTGAATGATCTTTCTTCCAAATCTTTATTTGTTTGACAAATATTTATCGAGCTTCTGTTCAGTGCCAGGCACTGTTTCAGGAGCTAGGGATAAGGCAGGGATTCAAATGGACCT... |
Task1_train_11189 | A mutation in DDC-AS1, DDC (DDC antisense RNA 1| dopa decarboxylase), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase | TTCTCCAGCTTTCTCATTCAAAAATGCCTTTGGTAGTTCCAGCATCTTCCCGAGCCAGTCCATCATCACAGTCTCCAGCTCTGTGCATGCTGGGCTTGCCGCCTGTCGTGGGGGAAGGGAAGGGATTAACCGAGGGCCAGGCATTGCAGAATTTGGGGGTCAGCAGTAACAAGGGGATTTAACCTTCCACTAAAGCCCAGATTAAAATCACCCAATCTCAGATGTGATTCAAAGGCCTGAAGGCTGTTTGACCTAGAATCATGCAAGGAGAGCGGTTGGGAAGGAACATACGGGCCACCATAATGAACCTTACTCCACTG... | TTCTCCAGCTTTCTCATTCAAAAATGCCTTTGGTAGTTCCAGCATCTTCCCGAGCCAGTCCATCATCACAGTCTCCAGCTCTGTGCATGCTGGGCTTGCCGCCTGTCGTGGGGGAAGGGAAGGGATTAACCGAGGGCCAGGCATTGCAGAATTTGGGGGTCAGCAGTAACAAGGGGATTTAACCTTCCACTAAAGCCCAGATTAAAATCACCCAATCTCAGATGTGATTCAAAGGCCTGAAGGCTGTTTGACCTAGAATCATGCAAGGAGAGCGGTTGGGAAGGAACATACGGGCCACCATAATGAACCTTACTCCACTG... |
Task1_train_11190 | A genetic alteration is present in DDC, DDC-AS1 (dopa decarboxylase| DDC antisense RNA 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase | TCTTCCCGAGCCAGTCCATCATCACAGTCTCCAGCTCTGTGCATGCTGGGCTTGCCGCCTGTCGTGGGGGAAGGGAAGGGATTAACCGAGGGCCAGGCATTGCAGAATTTGGGGGTCAGCAGTAACAAGGGGATTTAACCTTCCACTAAAGCCCAGATTAAAATCACCCAATCTCAGATGTGATTCAAAGGCCTGAAGGCTGTTTGACCTAGAATCATGCAAGGAGAGCGGTTGGGAAGGAACATACGGGCCACCATAATGAACCTTACTCCACTGAGCCTCACTGCATGGGCTCTGCGGGCTTGCTAGGATATTCATTT... | TCTTCCCGAGCCAGTCCATCATCACAGTCTCCAGCTCTGTGCATGCTGGGCTTGCCGCCTGTCGTGGGGGAAGGGAAGGGATTAACCGAGGGCCAGGCATTGCAGAATTTGGGGGTCAGCAGTAACAAGGGGATTTAACCTTCCACTAAAGCCCAGATTAAAATCACCCAATCTCAGATGTGATTCAAAGGCCTGAAGGCTGTTTGACCTAGAATCATGCAAGGAGAGCGGTTGGGAAGGAACATACGGGCCACCATAATGAACCTTACTCCACTGAGCCTCACTGCATGGGCTCTGCGGGCTTGCTAGGATATTCATTT... |
Task1_train_11191 | A variant has been detected on Chromosome 7 in DDC (dopa decarboxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase | GATTGTGAAGGCAGCCAACTGAGAGAGCTCACCAAGAACTAGGAGTGTTCAGTAAGGTTTATTTAACAACCACGGCCACCCCAAGTCTGCCAGGGCTTGGGGAGTGGTGGAGAGAGGGAGCTAACACAGTCTAGGCTTGGGGGCTCAGGTGTGGGAGGTTGGTGATGAGGCTGAGAGGCCGAGAGGAGCTGCACAGGCTGTGATGCCTTCAGCACAGCAGGTCCAGGCCCACGACACTGTTAGGGGCTGAAAAAATGCTTAAATTTCTTCTGTAATCAGGAGGAAAAAACAGTGAACTTTCAGGTTAAAGAAAAAAAATC... | GATTGTGAAGGCAGCCAACTGAGAGAGCTCACCAAGAACTAGGAGTGTTCAGTAAGGTTTATTTAACAACCACGGCCACCCCAAGTCTGCCAGGGCTTGGGGAGTGGTGGAGAGAGGGAGCTAACACAGTCTAGGCTTGGGGGCTCAGGTGTGGGAGGTTGGTGATGAGGCTGAGAGGCCGAGAGGAGCTGCACAGGCTGTGATGCCTTCAGCACAGCAGGTCCAGGCCCACGACACTGTTAGGGGCTGAAAAAATGCTTAAATTTCTTCTGTAATCAGGAGGAAAAAACAGTGAACTTTCAGGTTAAAGAAAAAAAATC... |
Task1_train_11192 | Given this variant in gene EGFR (epidermal growth factor receptor) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cowden syndrome 1 | TTTCCCACACTAGTGGAACACTAGGCTGCAAAGACAGTAACTTGGGCTTTCTGACGGGAGTCAACACCGTGCTGCGCTTCCTCCGTGTGTGGCGCTGAGTGTACTTACCTCACTTGCCCAGCGTGTCCTCTCTCCTCCATAGGTCTGCCGCAAATTCCGAGACGAAGCCACGTGCAAGGACACCTGCCCCCCACTCATGCTCTACAACCCCACCACGTACCAGATGGATGTGAACCCCGAGGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTCCCCGTGAGTCCTCCTCTGTGGGCCCTCTAACTGGTCAGG... | TTTCCCACACTAGTGGAACACTAGGCTGCAAAGACAGTAACTTGGGCTTTCTGACGGGAGTCAACACCGTGCTGCGCTTCCTCCGTGTGTGGCGCTGAGTGTACTTACCTCACTTGCCCAGCGTGTCCTCTCTCCTCCATAGGTCTGCCGCAAATTCCGAGACGAAGCCACGTGCAAGGACACCTGCCCCCCACTCATGCTCTACAACCCCACCACGTACCAGATGGATGTGAACCCCGAGGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTCCCCGTGAGTCCTCCTCTGTGGGCCCTCTAACTGGTCAGG... |
Task1_train_11193 | A variant has been detected on Chromosome 7 in EGFR (epidermal growth factor receptor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; EGFR-related lung cancer | CATTCTTTGTCCTTAAAGTAAATAAAGCCAAAGGAGGATGGAGCCTTTCCATCACCCCTCAAGAGGACCTGGACCGCCTGTGTGAGGCCCGAGCACCTGGTGCCACCGTCATCACCTTCCTTTCATGCTCTCTTCCCCAGGTAATTATGTGGTGACAGATCACGGCTCGTGCGTCCGAGCCTGTGGGGCCGACAGCTATGAGATGGAGGAAGACGGCGTCCGCAAGTGTAAGAAGTGCGAAGGGCCTTGCCGCAAAGGTAGGAAGCCCGCCGGTGTGCGGACGAGGCTTGTTCTCGGCTGCTGAGGCTGGGCTCTCATGC... | CATTCTTTGTCCTTAAAGTAAATAAAGCCAAAGGAGGATGGAGCCTTTCCATCACCCCTCAAGAGGACCTGGACCGCCTGTGTGAGGCCCGAGCACCTGGTGCCACCGTCATCACCTTCCTTTCATGCTCTCTTCCCCAGGTAATTATGTGGTGACAGATCACGGCTCGTGCGTCCGAGCCTGTGGGGCCGACAGCTATGAGATGGAGGAAGACGGCGTCCGCAAGTGTAAGAAGTGCGAAGGGCCTTGCCGCAAAGGTAGGAAGCCCGCCGGTGTGCGGACGAGGCTTGTTCTCGGCTGCTGAGGCTGGGCTCTCATGC... |
Task1_train_11194 | An alteration has been detected in EGFR (epidermal growth factor receptor) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Non-small cell lung carcinoma | CAGCCATAGCTCTCTCTCCTGCCACCAGTGTCACATGATCGAGGAAGAAGGCAACTTCAAAAAGACTGGGTCCCCTTCCACTCCCATCTCTTCAGTGAGCTGCTAGGACACCCAGCAGAACTTCCCCACTCCACACTGCAATCTCAGGGATCTTAGTCACGGGGCTTTCCACCATGTCTCCACCTGGAAACCAGTCATGGCCATTCCTTCTTACATCTGCTCTTTTCCATCTTTTTCTTCTCCTCCTGTTCACCCGCCCTTACTCTTGTGGCGCCCTATGGATATGCGCTCCATAGCAAATGATTCTTTATATCTTACGG... | CAGCCATAGCTCTCTCTCCTGCCACCAGTGTCACATGATCGAGGAAGAAGGCAACTTCAAAAAGACTGGGTCCCCTTCCACTCCCATCTCTTCAGTGAGCTGCTAGGACACCCAGCAGAACTTCCCCACTCCACACTGCAATCTCAGGGATCTTAGTCACGGGGCTTTCCACCATGTCTCCACCTGGAAACCAGTCATGGCCATTCCTTCTTACATCTGCTCTTTTCCATCTTTTTCTTCTCCTCCTGTTCACCCGCCCTTACTCTTGTGGCGCCCTATGGATATGCGCTCCATAGCAAATGATTCTTTATATCTTACGG... |
Task1_train_11195 | Consider this mutation in EGFR (epidermal growth factor receptor) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Neoplasm | CAGCCATAGCTCTCTCTCCTGCCACCAGTGTCACATGATCGAGGAAGAAGGCAACTTCAAAAAGACTGGGTCCCCTTCCACTCCCATCTCTTCAGTGAGCTGCTAGGACACCCAGCAGAACTTCCCCACTCCACACTGCAATCTCAGGGATCTTAGTCACGGGGCTTTCCACCATGTCTCCACCTGGAAACCAGTCATGGCCATTCCTTCTTACATCTGCTCTTTTCCATCTTTTTCTTCTCCTCCTGTTCACCCGCCCTTACTCTTGTGGCGCCCTATGGATATGCGCTCCATAGCAAATGATTCTTTATATCTTACGG... | CAGCCATAGCTCTCTCTCCTGCCACCAGTGTCACATGATCGAGGAAGAAGGCAACTTCAAAAAGACTGGGTCCCCTTCCACTCCCATCTCTTCAGTGAGCTGCTAGGACACCCAGCAGAACTTCCCCACTCCACACTGCAATCTCAGGGATCTTAGTCACGGGGCTTTCCACCATGTCTCCACCTGGAAACCAGTCATGGCCATTCCTTCTTACATCTGCTCTTTTCCATCTTTTTCTTCTCCTCCTGTTCACCCGCCCTTACTCTTGTGGCGCCCTATGGATATGCGCTCCATAGCAAATGATTCTTTATATCTTACGG... |
Task1_train_11196 | This mutation occurs in EGFR, EGFR-AS1 (epidermal growth factor receptor| EGFR antisense RNA 1) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Non-small cell lung carcinoma | CCAGAGGGTTTGTTCATATGGAAGGCTAGGCCTGTCTCCTGCATTTCACCCTCTTGGCCTGGGGGCGGGACCCAAGAATGTGTGGCTCTAAAAGGTTCCCAGGCAATGCTGAGGCTGCTTTCTGAAGGAAAAACTGCAAGATACCAGGAGAGTTTCATTTAGATTGAAGAGTCGAGGAAGGCTCCTCTGAGAAAGAGTCTGCTAAGGAAGGAGGAGGTGGGTTCTGGGGACAGAGGTTCTCCCGTGGGTAAGGGTGGAGGGAAGCTCTCCTGGGGAGAAGGTGGGCAGGAGGACCAGAGGCTGGAGGGAGGAGGGCAGTC... | CCAGAGGGTTTGTTCATATGGAAGGCTAGGCCTGTCTCCTGCATTTCACCCTCTTGGCCTGGGGGCGGGACCCAAGAATGTGTGGCTCTAAAAGGTTCCCAGGCAATGCTGAGGCTGCTTTCTGAAGGAAAAACTGCAAGATACCAGGAGAGTTTCATTTAGATTGAAGAGTCGAGGAAGGCTCCTCTGAGAAAGAGTCTGCTAAGGAAGGAGGAGGTGGGTTCTGGGGACAGAGGTTCTCCCGTGGGTAAGGGTGGAGGGAAGCTCTCCTGGGGAGAAGGTGGGCAGGAGGACCAGAGGCTGGAGGGAGGAGGGCAGTC... |
Task1_train_11197 | A variant was discovered in gene EGFR, EGFR-AS1 (epidermal growth factor receptor| EGFR antisense RNA 1), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Neoplasm | CCAGAGGGTTTGTTCATATGGAAGGCTAGGCCTGTCTCCTGCATTTCACCCTCTTGGCCTGGGGGCGGGACCCAAGAATGTGTGGCTCTAAAAGGTTCCCAGGCAATGCTGAGGCTGCTTTCTGAAGGAAAAACTGCAAGATACCAGGAGAGTTTCATTTAGATTGAAGAGTCGAGGAAGGCTCCTCTGAGAAAGAGTCTGCTAAGGAAGGAGGAGGTGGGTTCTGGGGACAGAGGTTCTCCCGTGGGTAAGGGTGGAGGGAAGCTCTCCTGGGGAGAAGGTGGGCAGGAGGACCAGAGGCTGGAGGGAGGAGGGCAGTC... | CCAGAGGGTTTGTTCATATGGAAGGCTAGGCCTGTCTCCTGCATTTCACCCTCTTGGCCTGGGGGCGGGACCCAAGAATGTGTGGCTCTAAAAGGTTCCCAGGCAATGCTGAGGCTGCTTTCTGAAGGAAAAACTGCAAGATACCAGGAGAGTTTCATTTAGATTGAAGAGTCGAGGAAGGCTCCTCTGAGAAAGAGTCTGCTAAGGAAGGAGGAGGTGGGTTCTGGGGACAGAGGTTCTCCCGTGGGTAAGGGTGGAGGGAAGCTCTCCTGGGGAGAAGGTGGGCAGGAGGACCAGAGGCTGGAGGGAGGAGGGCAGTC... |
Task1_train_11198 | Gene EGFR (epidermal growth factor receptor) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Non-small cell lung carcinoma | AACAGCTACCACAGAGGACGCCTTCAACAAATGTGAAGAACGAACAAAAGGTACAAATGTGAAGAACGAACAGGGTAGAAAGAAAGGAGAAAGCAAGGGTGAGGGTGAGAAATCAAGGGACAGAGAAGAGAGAAGAGGAGATAGCCTGGGAGTTCACACAGCCAAGAAGGTAGACACTCAGTTGAACCAGCAAGAGGCTGAGCCTAACTCTCCCTTTCGAATGGGCAGGAGTTCATGATATTTAATAAACAGAGGCCTTGCTCTGTAAGAGACAGGGTACCAGGCAGAGAGCAAGTCAGCATCGCAGGAGTCAAACGAGG... | AACAGCTACCACAGAGGACGCCTTCAACAAATGTGAAGAACGAACAAAAGGTACAAATGTGAAGAACGAACAGGGTAGAAAGAAAGGAGAAAGCAAGGGTGAGGGTGAGAAATCAAGGGACAGAGAAGAGAGAAGAGGAGATAGCCTGGGAGTTCACACAGCCAAGAAGGTAGACACTCAGTTGAACCAGCAAGAGGCTGAGCCTAACTCTCCCTTTCGAATGGGCAGGAGTTCATGATATTTAATAAACAGAGGCCTTGCTCTGTAAGAGACAGGGTACCAGGCAGAGAGCAAGTCAGCATCGCAGGAGTCAAACGAGG... |
Task1_train_11199 | This variant impacts the gene PSPH (phosphoserine phosphatase) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Deficiency of phosphoserine phosphatase | CACAGGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCTCTGTCATCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCTCCTACAGGGTTCAAGCGATTCTCTTGTGTCAGCCTCCCGAGTAGCTGGGACAACAGATGCGCACCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGTCTTGGCCTCCCAAAGTGCTG... | CACAGGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCTCTGTCATCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCTCCTACAGGGTTCAAGCGATTCTCTTGTGTCAGCCTCCCGAGTAGCTGGGACAACAGATGCGCACCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGTCTTGGCCTCCCAAAGTGCTG... |
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