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_2900 | Mutation context: Chromosome 1, Gene ACTN2 (actinin alpha 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCT... | TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCT... |
Task1_train_2901 | A sequence alteration has been identified in ACTN2 (actinin alpha 2) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; ACTN2-related disorder | TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCT... | TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCT... |
Task1_train_2902 | Here is a genetic alteration in ACTN2 (actinin alpha 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | TTTTAAAGCCCCAACTGGAAATTTGGTTAAAAACTTGGTTACAAGTACTTACAGTACTTTTTAAAAGAATTTTTAGAATATGATATAGACATGTCCCAGATGTGTATGAATTTTAAATGCAGAAAAATTGCTTAGAAAACGACATCTTGGGAATGAAAGTATTCTTACTAACTTGCAGCCTTTTAAATTTGGGGCAACTATCGACAAATGTAATTATGGTCCAAATGGGATAATTTGAGCCCTTTTGTCTGATTTTTAAGATTGGGACATTTCTTTTCATGGTTGAAATTATAGCACAATTAGTCATCTCAGTATGCCAA... | TTTTAAAGCCCCAACTGGAAATTTGGTTAAAAACTTGGTTACAAGTACTTACAGTACTTTTTAAAAGAATTTTTAGAATATGATATAGACATGTCCCAGATGTGTATGAATTTTAAATGCAGAAAAATTGCTTAGAAAACGACATCTTGGGAATGAAAGTATTCTTACTAACTTGCAGCCTTTTAAATTTGGGGCAACTATCGACAAATGTAATTATGGTCCAAATGGGATAATTTGAGCCCTTTTGTCTGATTTTTAAGATTGGGACATTTCTTTTCATGGTTGAAATTATAGCACAATTAGTCATCTCAGTATGCCAA... |
Task1_train_2903 | The gene ACTN2 (actinin alpha 2) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | TGGGAAAATATTTTTAGTGACAAACAAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAATCCTGATAATATACTGCAGAGTGCCCACTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAGAGTAT... | TGGGAAAATATTTTTAGTGACAAACAAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAATCCTGATAATATACTGCAGAGTGCCCACTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAGAGTAT... |
Task1_train_2904 | A genetic alteration is present in MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Methylcobalamin deficiency type cblG | TCTCCCAAGCATGTGCCCTTAACCACTCTGCTATCTCTGCCTAGTGGAAACAGTAGGAGGGGGCAGTAGAAACAGGAAGGGACAGGTGACTCTTCATTAGAGTCTAGCTCTTATGACTTAATGATCCCTTTGTGGTTTAGTGGAAAGAACATTGACCTGAAAGAAGTTCCAGTCCTATGTTCTTGCCCAACTCATACATCTTTAAACAAACCACTTCATCTCTCTGAGCTTGTTTGGGAAGGTTAGACTTTGAAGCTGTTATTCCGTGATTCTTAAGAAATAGGTCAGATATTGGCATTTCCGTTTTTGAGGTCTTTTGA... | TCTCCCAAGCATGTGCCCTTAACCACTCTGCTATCTCTGCCTAGTGGAAACAGTAGGAGGGGGCAGTAGAAACAGGAAGGGACAGGTGACTCTTCATTAGAGTCTAGCTCTTATGACTTAATGATCCCTTTGTGGTTTAGTGGAAAGAACATTGACCTGAAAGAAGTTCCAGTCCTATGTTCTTGCCCAACTCATACATCTTTAAACAAACCACTTCATCTCTCTGAGCTTGTTTGGGAAGGTTAGACTTTGAAGCTGTTATTCCGTGATTCTTAAGAAATAGGTCAGATATTGGCATTTCCGTTTTTGAGGTCTTTTGA... |
Task1_train_2905 | The variant affects gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neural tube defects, folate-sensitive | TCTCCCAAGCATGTGCCCTTAACCACTCTGCTATCTCTGCCTAGTGGAAACAGTAGGAGGGGGCAGTAGAAACAGGAAGGGACAGGTGACTCTTCATTAGAGTCTAGCTCTTATGACTTAATGATCCCTTTGTGGTTTAGTGGAAAGAACATTGACCTGAAAGAAGTTCCAGTCCTATGTTCTTGCCCAACTCATACATCTTTAAACAAACCACTTCATCTCTCTGAGCTTGTTTGGGAAGGTTAGACTTTGAAGCTGTTATTCCGTGATTCTTAAGAAATAGGTCAGATATTGGCATTTCCGTTTTTGAGGTCTTTTGA... | TCTCCCAAGCATGTGCCCTTAACCACTCTGCTATCTCTGCCTAGTGGAAACAGTAGGAGGGGGCAGTAGAAACAGGAAGGGACAGGTGACTCTTCATTAGAGTCTAGCTCTTATGACTTAATGATCCCTTTGTGGTTTAGTGGAAAGAACATTGACCTGAAAGAAGTTCCAGTCCTATGTTCTTGCCCAACTCATACATCTTTAAACAAACCACTTCATCTCTCTGAGCTTGTTTGGGAAGGTTAGACTTTGAAGCTGTTATTCCGTGATTCTTAAGAAATAGGTCAGATATTGGCATTTCCGTTTTTGAGGTCTTTTGA... |
Task1_train_2906 | Here is a mutation in MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not specified | TCTCCCAAGCATGTGCCCTTAACCACTCTGCTATCTCTGCCTAGTGGAAACAGTAGGAGGGGGCAGTAGAAACAGGAAGGGACAGGTGACTCTTCATTAGAGTCTAGCTCTTATGACTTAATGATCCCTTTGTGGTTTAGTGGAAAGAACATTGACCTGAAAGAAGTTCCAGTCCTATGTTCTTGCCCAACTCATACATCTTTAAACAAACCACTTCATCTCTCTGAGCTTGTTTGGGAAGGTTAGACTTTGAAGCTGTTATTCCGTGATTCTTAAGAAATAGGTCAGATATTGGCATTTCCGTTTTTGAGGTCTTTTGA... | TCTCCCAAGCATGTGCCCTTAACCACTCTGCTATCTCTGCCTAGTGGAAACAGTAGGAGGGGGCAGTAGAAACAGGAAGGGACAGGTGACTCTTCATTAGAGTCTAGCTCTTATGACTTAATGATCCCTTTGTGGTTTAGTGGAAAGAACATTGACCTGAAAGAAGTTCCAGTCCTATGTTCTTGCCCAACTCATACATCTTTAAACAAACCACTTCATCTCTCTGAGCTTGTTTGGGAAGGTTAGACTTTGAAGCTGTTATTCCGTGATTCTTAAGAAATAGGTCAGATATTGGCATTTCCGTTTTTGAGGTCTTTTGA... |
Task1_train_2907 | This genomic variant is located on Chromosome 1, within the MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Disorders of Intracellular Cobalamin Metabolism | TGTGGTACCAGCCCCCTGGCCCCTCCCACTGTCTGACCTTGGGCCAGTTGATCAAGCTTCCTATGCCCCTGATTTCTTGTCTGTAAAATGGAGCTGATGGTATCACCTATGTCACAAGGTGGTTGAGAGGGTTAAATAGTAATTCATATAAAGCACCAAGAGCAGGCATACAGTAACCACTGAATGAGTATTATAAGCTATTTACCTTCTCAGCAAATATTTATTGATTTTTTTAATATGTATAAGACTTTATTTGTTACCTTAGTTGCAGGGAAGAGTTGCTTATGAGCTGAGGGTGAAAAATGGGGGAGGGTAGGCCC... | TGTGGTACCAGCCCCCTGGCCCCTCCCACTGTCTGACCTTGGGCCAGTTGATCAAGCTTCCTATGCCCCTGATTTCTTGTCTGTAAAATGGAGCTGATGGTATCACCTATGTCACAAGGTGGTTGAGAGGGTTAAATAGTAATTCATATAAAGCACCAAGAGCAGGCATACAGTAACCACTGAATGAGTATTATAAGCTATTTACCTTCTCAGCAAATATTTATTGATTTTTTTAATATGTATAAGACTTTATTTGTTACCTTAGTTGCAGGGAAGAGTTGCTTATGAGCTGAGGGTGAAAAATGGGGGAGGGTAGGCCC... |
Task1_train_2908 | A variant on Chromosome 1 in gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Methylcobalamin deficiency type cblG | TGTGGTACCAGCCCCCTGGCCCCTCCCACTGTCTGACCTTGGGCCAGTTGATCAAGCTTCCTATGCCCCTGATTTCTTGTCTGTAAAATGGAGCTGATGGTATCACCTATGTCACAAGGTGGTTGAGAGGGTTAAATAGTAATTCATATAAAGCACCAAGAGCAGGCATACAGTAACCACTGAATGAGTATTATAAGCTATTTACCTTCTCAGCAAATATTTATTGATTTTTTTAATATGTATAAGACTTTATTTGTTACCTTAGTTGCAGGGAAGAGTTGCTTATGAGCTGAGGGTGAAAAATGGGGGAGGGTAGGCCC... | TGTGGTACCAGCCCCCTGGCCCCTCCCACTGTCTGACCTTGGGCCAGTTGATCAAGCTTCCTATGCCCCTGATTTCTTGTCTGTAAAATGGAGCTGATGGTATCACCTATGTCACAAGGTGGTTGAGAGGGTTAAATAGTAATTCATATAAAGCACCAAGAGCAGGCATACAGTAACCACTGAATGAGTATTATAAGCTATTTACCTTCTCAGCAAATATTTATTGATTTTTTTAATATGTATAAGACTTTATTTGTTACCTTAGTTGCAGGGAAGAGTTGCTTATGAGCTGAGGGTGAAAAATGGGGGAGGGTAGGCCC... |
Task1_train_2909 | This alteration occurs within gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | TGTGGTACCAGCCCCCTGGCCCCTCCCACTGTCTGACCTTGGGCCAGTTGATCAAGCTTCCTATGCCCCTGATTTCTTGTCTGTAAAATGGAGCTGATGGTATCACCTATGTCACAAGGTGGTTGAGAGGGTTAAATAGTAATTCATATAAAGCACCAAGAGCAGGCATACAGTAACCACTGAATGAGTATTATAAGCTATTTACCTTCTCAGCAAATATTTATTGATTTTTTTAATATGTATAAGACTTTATTTGTTACCTTAGTTGCAGGGAAGAGTTGCTTATGAGCTGAGGGTGAAAAATGGGGGAGGGTAGGCCC... | TGTGGTACCAGCCCCCTGGCCCCTCCCACTGTCTGACCTTGGGCCAGTTGATCAAGCTTCCTATGCCCCTGATTTCTTGTCTGTAAAATGGAGCTGATGGTATCACCTATGTCACAAGGTGGTTGAGAGGGTTAAATAGTAATTCATATAAAGCACCAAGAGCAGGCATACAGTAACCACTGAATGAGTATTATAAGCTATTTACCTTCTCAGCAAATATTTATTGATTTTTTTAATATGTATAAGACTTTATTTGTTACCTTAGTTGCAGGGAAGAGTTGCTTATGAGCTGAGGGTGAAAAATGGGGGAGGGTAGGCCC... |
Task1_train_2910 | A variant found in Chromosome 1 affects MTR (5-methyltetrahydrofolate-homocysteine methyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; MTR-related disorder | TGTGGTACCAGCCCCCTGGCCCCTCCCACTGTCTGACCTTGGGCCAGTTGATCAAGCTTCCTATGCCCCTGATTTCTTGTCTGTAAAATGGAGCTGATGGTATCACCTATGTCACAAGGTGGTTGAGAGGGTTAAATAGTAATTCATATAAAGCACCAAGAGCAGGCATACAGTAACCACTGAATGAGTATTATAAGCTATTTACCTTCTCAGCAAATATTTATTGATTTTTTTAATATGTATAAGACTTTATTTGTTACCTTAGTTGCAGGGAAGAGTTGCTTATGAGCTGAGGGTGAAAAATGGGGGAGGGTAGGCCC... | TGTGGTACCAGCCCCCTGGCCCCTCCCACTGTCTGACCTTGGGCCAGTTGATCAAGCTTCCTATGCCCCTGATTTCTTGTCTGTAAAATGGAGCTGATGGTATCACCTATGTCACAAGGTGGTTGAGAGGGTTAAATAGTAATTCATATAAAGCACCAAGAGCAGGCATACAGTAACCACTGAATGAGTATTATAAGCTATTTACCTTCTCAGCAAATATTTATTGATTTTTTTAATATGTATAAGACTTTATTTGTTACCTTAGTTGCAGGGAAGAGTTGCTTATGAGCTGAGGGTGAAAAATGGGGGAGGGTAGGCCC... |
Task1_train_2911 | Located on Chromosome 1, this mutation impacts RYR2 (ryanodine receptor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | AAGCGTAACTTGCTTACATGTTGTGTTTAATGTATTTGTAATGTTCTTCTGATATGAAGATCCTCCATTGAACATTTGCTTGTACCTGGTTGGACTGCATACTGGATCCTGCTTGTCTAAGCGAAAGCATACATGATTAATAACTTACGGTTCTAACTCACCAATCAGTTCTTTTTCATTATTTATTATGATTTATTGGAAAACATTTCCATAAACTGAAAGAAAAGAAAGAAATGCATTCACAATTTAATCATCCAAACTGAATTTTCTTCCTTTTTTTCAATTTTATTTTTATTTTTTGAGAACAGGGTCTTGCTCTG... | AAGCGTAACTTGCTTACATGTTGTGTTTAATGTATTTGTAATGTTCTTCTGATATGAAGATCCTCCATTGAACATTTGCTTGTACCTGGTTGGACTGCATACTGGATCCTGCTTGTCTAAGCGAAAGCATACATGATTAATAACTTACGGTTCTAACTCACCAATCAGTTCTTTTTCATTATTTATTATGATTTATTGGAAAACATTTCCATAAACTGAAAGAAAAGAAAGAAATGCATTCACAATTTAATCATCCAAACTGAATTTTCTTCCTTTTTTTCAATTTTATTTTTATTTTTTGAGAACAGGGTCTTGCTCTG... |
Task1_train_2912 | Given a variant located on Chromosome 1 and affecting RYR2 (ryanodine receptor 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TTTTTGGAGAATCAAAATAGGAGAACACAAACTTGATGTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCC... | TTTTTGGAGAATCAAAATAGGAGAACACAAACTTGATGTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCC... |
Task1_train_2913 | A variant on Chromosome 1 in gene RYR2 (ryanodine receptor 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | ACACAAACTTGATGTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCCTCATAAACTTTTTAATAGACCAAT... | ACACAAACTTGATGTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCCTCATAAACTTTTTAATAGACCAAT... |
Task1_train_2914 | A variant found in Chromosome 1 affects RYR2 (ryanodine receptor 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; RYR2-related disorder | GTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCCTCATAAACTTTTTAATAGACCAATGCATCGTCTTATA... | GTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCCTCATAAACTTTTTAATAGACCAATGCATCGTCTTATA... |
Task1_train_2915 | This sequence change occurs on Chromosome 1, altering RYR2 (ryanodine receptor 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cardiovascular phenotype | GTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCCTCATAAACTTTTTAATAGACCAATGCATCGTCTTATA... | GTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCCTCATAAACTTTTTAATAGACCAATGCATCGTCTTATA... |
Task1_train_2916 | Located on Chromosome 1, this mutation impacts RYR2 (ryanodine receptor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Arrhythmogenic right ventricular dysplasia 2 | GTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCCTCATAAACTTTTTAATAGACCAATGCATCGTCTTATA... | GTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCCTCATAAACTTTTTAATAGACCAATGCATCGTCTTATA... |
Task1_train_2917 | A genomic change on Chromosome 1 affects RYR2 (ryanodine receptor 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | GTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCCTCATAAACTTTTTAATAGACCAATGCATCGTCTTATA... | GTTCTTCTCAATACTCTGAGGACTTTGCATTGACTTTATATATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCCTCATAAACTTTTTAATAGACCAATGCATCGTCTTATA... |
Task1_train_2918 | Here is a mutation in RYR2 (ryanodine receptor 2) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | ATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCCTCATAAACTTTTTAATAGACCAATGCATCGTCTTATAAAAGAAATTCCAAGAACCCCTGGCACCAGAAAGATAAATAA... | ATCCCTATAAAATTGGACTGTTTTGTCTTTTACAATGAGCATGCATCACTTTGTAATTAAAAATAAAGACCAAGTAGAAAAAAGAATGGAAGGAAATAGTTCAACTTTTATTAAGTTGTTCCCTTCAAGAGTGAGATCAAGCTATCCTCTCACTCCACTCCCCCTCTTAAAAGTATTTACCCATATTTACTAAATCTTTTACAAACAACAAAAAGGTGAAAACAAAGCTATGTTTACCAGCCTCATAAACTTTTTAATAGACCAATGCATCGTCTTATAAAAGAAATTCCAAGAACCCCTGGCACCAGAAAGATAAATAA... |
Task1_train_2919 | This is a variant in RYR2 (ryanodine receptor 2), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Cardiovascular phenotype | GGGTCATAGTAATTATTAAAACAGTCATCGGCCGGGAGCGGTGGCTCACACCTGTAATCCCTGCCCTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGTTCAGGCGTTTAAGACTAGCCTCACCAACATGGTGCAATCTGTCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGTGGGCGCCTGTCGTCCCAGCTACTCGGGAGGCTGAGACAGCAGAATTGCTTGGAACCAGGAGGCTGAGGTTACAGTGAGCTGAGACTGTGCCACTGCATTCCAGCCTGGGTGACAGAGAAAGACTCCATCTCAAAAAAAAAA... | GGGTCATAGTAATTATTAAAACAGTCATCGGCCGGGAGCGGTGGCTCACACCTGTAATCCCTGCCCTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGTTCAGGCGTTTAAGACTAGCCTCACCAACATGGTGCAATCTGTCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGTGGGCGCCTGTCGTCCCAGCTACTCGGGAGGCTGAGACAGCAGAATTGCTTGGAACCAGGAGGCTGAGGTTACAGTGAGCTGAGACTGTGCCACTGCATTCCAGCCTGGGTGACAGAGAAAGACTCCATCTCAAAAAAAAAA... |
Task1_train_2920 | This alteration in RYR2 (ryanodine receptor 2) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | GGGTCATAGTAATTATTAAAACAGTCATCGGCCGGGAGCGGTGGCTCACACCTGTAATCCCTGCCCTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGTTCAGGCGTTTAAGACTAGCCTCACCAACATGGTGCAATCTGTCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGTGGGCGCCTGTCGTCCCAGCTACTCGGGAGGCTGAGACAGCAGAATTGCTTGGAACCAGGAGGCTGAGGTTACAGTGAGCTGAGACTGTGCCACTGCATTCCAGCCTGGGTGACAGAGAAAGACTCCATCTCAAAAAAAAAA... | GGGTCATAGTAATTATTAAAACAGTCATCGGCCGGGAGCGGTGGCTCACACCTGTAATCCCTGCCCTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGTTCAGGCGTTTAAGACTAGCCTCACCAACATGGTGCAATCTGTCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGTGGGCGCCTGTCGTCCCAGCTACTCGGGAGGCTGAGACAGCAGAATTGCTTGGAACCAGGAGGCTGAGGTTACAGTGAGCTGAGACTGTGCCACTGCATTCCAGCCTGGGTGACAGAGAAAGACTCCATCTCAAAAAAAAAA... |
Task1_train_2921 | Here is a mutation in RYR2 (ryanodine receptor 2) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cardiomyopathy | GGGTCATAGTAATTATTAAAACAGTCATCGGCCGGGAGCGGTGGCTCACACCTGTAATCCCTGCCCTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGTTCAGGCGTTTAAGACTAGCCTCACCAACATGGTGCAATCTGTCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGTGGGCGCCTGTCGTCCCAGCTACTCGGGAGGCTGAGACAGCAGAATTGCTTGGAACCAGGAGGCTGAGGTTACAGTGAGCTGAGACTGTGCCACTGCATTCCAGCCTGGGTGACAGAGAAAGACTCCATCTCAAAAAAAAAA... | GGGTCATAGTAATTATTAAAACAGTCATCGGCCGGGAGCGGTGGCTCACACCTGTAATCCCTGCCCTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGTTCAGGCGTTTAAGACTAGCCTCACCAACATGGTGCAATCTGTCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGTGGGCGCCTGTCGTCCCAGCTACTCGGGAGGCTGAGACAGCAGAATTGCTTGGAACCAGGAGGCTGAGGTTACAGTGAGCTGAGACTGTGCCACTGCATTCCAGCCTGGGTGACAGAGAAAGACTCCATCTCAAAAAAAAAA... |
Task1_train_2922 | The gene RYR2 (ryanodine receptor 2) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | GCCTCCTGCTATTTCAATTTTACTTAGCTTTTTAAAAATAGCAATGATTACTGAATTTTATTAATAAAGAAGATAAAAATCATGTGTTGTGTCTTTTAACTTGTTGATAAAATAACTAAGTTACCAGACCTCCAATTATTAAAGAGTTCTTAAATTCACAGAGTAAACCCTACTTGACCATAGTGTATGATTCTTTTGAAATTCTACTAGATTTAATTAATTAATATGTTATTCAGAATTATTACATGTATATTTACGGGGGAAGTTAATTTCTCTTTATGGACATTGAATTTTGAATTTCATACAATCTTTGTGTTTAT... | GCCTCCTGCTATTTCAATTTTACTTAGCTTTTTAAAAATAGCAATGATTACTGAATTTTATTAATAAAGAAGATAAAAATCATGTGTTGTGTCTTTTAACTTGTTGATAAAATAACTAAGTTACCAGACCTCCAATTATTAAAGAGTTCTTAAATTCACAGAGTAAACCCTACTTGACCATAGTGTATGATTCTTTTGAAATTCTACTAGATTTAATTAATTAATATGTTATTCAGAATTATTACATGTATATTTACGGGGGAAGTTAATTTCTCTTTATGGACATTGAATTTTGAATTTCATACAATCTTTGTGTTTAT... |
Task1_train_2923 | This variant lies on Chromosome 1 and affects the gene RYR2 (ryanodine receptor 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TTAATAAAGAAGATAAAAATCATGTGTTGTGTCTTTTAACTTGTTGATAAAATAACTAAGTTACCAGACCTCCAATTATTAAAGAGTTCTTAAATTCACAGAGTAAACCCTACTTGACCATAGTGTATGATTCTTTTGAAATTCTACTAGATTTAATTAATTAATATGTTATTCAGAATTATTACATGTATATTTACGGGGGAAGTTAATTTCTCTTTATGGACATTGAATTTTGAATTTCATACAATCTTTGTGTTTATTAATTTTTATGTGTCACAAAACACCATTCTACTCTGGTCTTTTTTTCAACCATTTAAAAA... | TTAATAAAGAAGATAAAAATCATGTGTTGTGTCTTTTAACTTGTTGATAAAATAACTAAGTTACCAGACCTCCAATTATTAAAGAGTTCTTAAATTCACAGAGTAAACCCTACTTGACCATAGTGTATGATTCTTTTGAAATTCTACTAGATTTAATTAATTAATATGTTATTCAGAATTATTACATGTATATTTACGGGGGAAGTTAATTTCTCTTTATGGACATTGAATTTTGAATTTCATACAATCTTTGTGTTTATTAATTTTTATGTGTCACAAAACACCATTCTACTCTGGTCTTTTTTTCAACCATTTAAAAA... |
Task1_train_2924 | Given a variant located on Chromosome 1 and affecting RYR2 (ryanodine receptor 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiovascular phenotype | TTAATAAAGAAGATAAAAATCATGTGTTGTGTCTTTTAACTTGTTGATAAAATAACTAAGTTACCAGACCTCCAATTATTAAAGAGTTCTTAAATTCACAGAGTAAACCCTACTTGACCATAGTGTATGATTCTTTTGAAATTCTACTAGATTTAATTAATTAATATGTTATTCAGAATTATTACATGTATATTTACGGGGGAAGTTAATTTCTCTTTATGGACATTGAATTTTGAATTTCATACAATCTTTGTGTTTATTAATTTTTATGTGTCACAAAACACCATTCTACTCTGGTCTTTTTTTCAACCATTTAAAAA... | TTAATAAAGAAGATAAAAATCATGTGTTGTGTCTTTTAACTTGTTGATAAAATAACTAAGTTACCAGACCTCCAATTATTAAAGAGTTCTTAAATTCACAGAGTAAACCCTACTTGACCATAGTGTATGATTCTTTTGAAATTCTACTAGATTTAATTAATTAATATGTTATTCAGAATTATTACATGTATATTTACGGGGGAAGTTAATTTCTCTTTATGGACATTGAATTTTGAATTTCATACAATCTTTGTGTTTATTAATTTTTATGTGTCACAAAACACCATTCTACTCTGGTCTTTTTTTCAACCATTTAAAAA... |
Task1_train_2925 | This gene mutation involves RYR2 (ryanodine receptor 2) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia | AACAATTGTATATATTACATTATATATGTAAAGTATATATTATACATTATATAATATAGTATAAACTATATACTATAGAGTATATTATACATTAATAATATACTATATCAGCATATACTATTAGTATATACTAATATATACTATATATAATGTATAACAAATATATAATATATAATAAATATATATAATATATAACAACATATATCATATATTTTATATACACTATATATGTTTTCATTTTTCTTCTGGATATATTAATAAATATATTCTTGAAGTAGATGAGAGAGGGGAGGAACCTGTATTTGTTAGGTAATAATATA... | AACAATTGTATATATTACATTATATATGTAAAGTATATATTATACATTATATAATATAGTATAAACTATATACTATAGAGTATATTATACATTAATAATATACTATATCAGCATATACTATTAGTATATACTAATATATACTATATATAATGTATAACAAATATATAATATATAATAAATATATATAATATATAACAACATATATCATATATTTTATATACACTATATATGTTTTCATTTTTCTTCTGGATATATTAATAAATATATTCTTGAAGTAGATGAGAGAGGGGAGGAACCTGTATTTGTTAGGTAATAATATA... |
Task1_train_2926 | Given this variant in gene RYR2 (ryanodine receptor 2) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cardiovascular phenotype | AACAATTGTATATATTACATTATATATGTAAAGTATATATTATACATTATATAATATAGTATAAACTATATACTATAGAGTATATTATACATTAATAATATACTATATCAGCATATACTATTAGTATATACTAATATATACTATATATAATGTATAACAAATATATAATATATAATAAATATATATAATATATAACAACATATATCATATATTTTATATACACTATATATGTTTTCATTTTTCTTCTGGATATATTAATAAATATATTCTTGAAGTAGATGAGAGAGGGGAGGAACCTGTATTTGTTAGGTAATAATATA... | AACAATTGTATATATTACATTATATATGTAAAGTATATATTATACATTATATAATATAGTATAAACTATATACTATAGAGTATATTATACATTAATAATATACTATATCAGCATATACTATTAGTATATACTAATATATACTATATATAATGTATAACAAATATATAATATATAATAAATATATATAATATATAACAACATATATCATATATTTTATATACACTATATATGTTTTCATTTTTCTTCTGGATATATTAATAAATATATTCTTGAAGTAGATGAGAGAGGGGAGGAACCTGTATTTGTTAGGTAATAATATA... |
Task1_train_2927 | The gene RYR2 (ryanodine receptor 2) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | AAGCTCTATGATGTTCATTAAGAACAATACCTAAACATAAAAATGTAGAATTCTGGAAGATAGGATGTTAAACAGTGATTAGAAGACAAATATTTAGCAGAAAAAAAAGCTGATGTAGTTACATAGATATCAGGCAAAAGAGGAGATAATAAAGGTAACTGCTACATGAATAAAATAGACCAAAAGAAACAATAAAATTGATCAAAGAAACTTAGAGTTAATTCTTTGAAAAAAACGAATAAAATGGAATACCAAGTTTTTCTTTGACAGAACTCAAATACAATCCTGAGGGAAGAAAACAAGTGTATAATGATACAGAC... | AAGCTCTATGATGTTCATTAAGAACAATACCTAAACATAAAAATGTAGAATTCTGGAAGATAGGATGTTAAACAGTGATTAGAAGACAAATATTTAGCAGAAAAAAAAGCTGATGTAGTTACATAGATATCAGGCAAAAGAGGAGATAATAAAGGTAACTGCTACATGAATAAAATAGACCAAAAGAAACAATAAAATTGATCAAAGAAACTTAGAGTTAATTCTTTGAAAAAAACGAATAAAATGGAATACCAAGTTTTTCTTTGACAGAACTCAAATACAATCCTGAGGGAAGAAAACAAGTGTATAATGATACAGAC... |
Task1_train_2928 | A genetic alteration is present in RYR2 (ryanodine receptor 2) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TCATCTCCTGGAGTATATAGATTGATATAGAATGCAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGGCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGATTAGAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCCTCCCGAA... | TCATCTCCTGGAGTATATAGATTGATATAGAATGCAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGGCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGATTAGAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCCTCCCGAA... |
Task1_train_2929 | A genomic change on Chromosome 1 affects RYR2 (ryanodine receptor 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | AATGCAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGGCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGATTAGAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGCG... | AATGCAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGGCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGATTAGAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGCG... |
Task1_train_2930 | A mutation on Chromosome 1 affecting RYR2 (ryanodine receptor 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGGCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGATTAGAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCAGATTG... | TTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGGCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGATTAGAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCAGATTG... |
Task1_train_2931 | Here is a variant affecting RYR2 (ryanodine receptor 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cardiomyopathy | GTTTACCAGTTAGACAGGCTTAGAAGGATATCATAATATACTGTACTTTATTACAGAAGAACTCCAGAGAGTATCTGGGGTAAACTATGATAATATTTGGTCTCAAGGAAGATGTGTTTGGTGGGGTCAAACATGCAGGCCTTCCAGTCCAGGAAATCATCTCATGAGGTGCAAATCAGGGAGGTTGTAAATCCCTGGAATCAGTAATTCTACTAATATTAATACTGATAAGAACATCCTATTATATGTGCCACGTACTGAACTATATATTTTTCAGAAATCAGCTCAATGAATTCACTCCCCTGCCCCTTACCTAAAGC... | GTTTACCAGTTAGACAGGCTTAGAAGGATATCATAATATACTGTACTTTATTACAGAAGAACTCCAGAGAGTATCTGGGGTAAACTATGATAATATTTGGTCTCAAGGAAGATGTGTTTGGTGGGGTCAAACATGCAGGCCTTCCAGTCCAGGAAATCATCTCATGAGGTGCAAATCAGGGAGGTTGTAAATCCCTGGAATCAGTAATTCTACTAATATTAATACTGATAAGAACATCCTATTATATGTGCCACGTACTGAACTATATATTTTTCAGAAATCAGCTCAATGAATTCACTCCCCTGCCCCTTACCTAAAGC... |
Task1_train_2932 | This variant lies on Chromosome 1 and affects the gene RYR2 (ryanodine receptor 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | GTTTACCAGTTAGACAGGCTTAGAAGGATATCATAATATACTGTACTTTATTACAGAAGAACTCCAGAGAGTATCTGGGGTAAACTATGATAATATTTGGTCTCAAGGAAGATGTGTTTGGTGGGGTCAAACATGCAGGCCTTCCAGTCCAGGAAATCATCTCATGAGGTGCAAATCAGGGAGGTTGTAAATCCCTGGAATCAGTAATTCTACTAATATTAATACTGATAAGAACATCCTATTATATGTGCCACGTACTGAACTATATATTTTTCAGAAATCAGCTCAATGAATTCACTCCCCTGCCCCTTACCTAAAGC... | GTTTACCAGTTAGACAGGCTTAGAAGGATATCATAATATACTGTACTTTATTACAGAAGAACTCCAGAGAGTATCTGGGGTAAACTATGATAATATTTGGTCTCAAGGAAGATGTGTTTGGTGGGGTCAAACATGCAGGCCTTCCAGTCCAGGAAATCATCTCATGAGGTGCAAATCAGGGAGGTTGTAAATCCCTGGAATCAGTAATTCTACTAATATTAATACTGATAAGAACATCCTATTATATGTGCCACGTACTGAACTATATATTTTTCAGAAATCAGCTCAATGAATTCACTCCCCTGCCCCTTACCTAAAGC... |
Task1_train_2933 | Consider this mutation in RYR2 (ryanodine receptor 2) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Cardiovascular phenotype | GTTTACCAGTTAGACAGGCTTAGAAGGATATCATAATATACTGTACTTTATTACAGAAGAACTCCAGAGAGTATCTGGGGTAAACTATGATAATATTTGGTCTCAAGGAAGATGTGTTTGGTGGGGTCAAACATGCAGGCCTTCCAGTCCAGGAAATCATCTCATGAGGTGCAAATCAGGGAGGTTGTAAATCCCTGGAATCAGTAATTCTACTAATATTAATACTGATAAGAACATCCTATTATATGTGCCACGTACTGAACTATATATTTTTCAGAAATCAGCTCAATGAATTCACTCCCCTGCCCCTTACCTAAAGC... | GTTTACCAGTTAGACAGGCTTAGAAGGATATCATAATATACTGTACTTTATTACAGAAGAACTCCAGAGAGTATCTGGGGTAAACTATGATAATATTTGGTCTCAAGGAAGATGTGTTTGGTGGGGTCAAACATGCAGGCCTTCCAGTCCAGGAAATCATCTCATGAGGTGCAAATCAGGGAGGTTGTAAATCCCTGGAATCAGTAATTCTACTAATATTAATACTGATAAGAACATCCTATTATATGTGCCACGTACTGAACTATATATTTTTCAGAAATCAGCTCAATGAATTCACTCCCCTGCCCCTTACCTAAAGC... |
Task1_train_2934 | This variant affects gene RYR2 (ryanodine receptor 2) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | GTCTTGCATCTCTGAGACACCTCAGGACATGTTTCCCCCGTATAGTACTTAAAATCTTTTAATCTACACACTCATTAAAATGGCCAATACTAATGCAGTTGATAATACCAAATGCTGAGAAGGACAAGGAGCAGCTAGAACTCTCTTCTACTTCTGTTGTGATGAGTAATGGTACAGCCAGTGTGGAAAGCAGTTTGGCAGTTCCTTAACAAATTAAACATACACCTACCATAAACTATATGCCTAGCCTTTCCACTGCTAACAATTTACCCAGTAGAAAGGAAAATATATGTCCACACAAAGACTTGGGCATGAATGTT... | GTCTTGCATCTCTGAGACACCTCAGGACATGTTTCCCCCGTATAGTACTTAAAATCTTTTAATCTACACACTCATTAAAATGGCCAATACTAATGCAGTTGATAATACCAAATGCTGAGAAGGACAAGGAGCAGCTAGAACTCTCTTCTACTTCTGTTGTGATGAGTAATGGTACAGCCAGTGTGGAAAGCAGTTTGGCAGTTCCTTAACAAATTAAACATACACCTACCATAAACTATATGCCTAGCCTTTCCACTGCTAACAATTTACCCAGTAGAAAGGAAAATATATGTCCACACAAAGACTTGGGCATGAATGTT... |
Task1_train_2935 | A sequence alteration has been identified in RYR2 (ryanodine receptor 2) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; not provided | ACACCTCAGGACATGTTTCCCCCGTATAGTACTTAAAATCTTTTAATCTACACACTCATTAAAATGGCCAATACTAATGCAGTTGATAATACCAAATGCTGAGAAGGACAAGGAGCAGCTAGAACTCTCTTCTACTTCTGTTGTGATGAGTAATGGTACAGCCAGTGTGGAAAGCAGTTTGGCAGTTCCTTAACAAATTAAACATACACCTACCATAAACTATATGCCTAGCCTTTCCACTGCTAACAATTTACCCAGTAGAAAGGAAAATATATGTCCACACAAAGACTTGGGCATGAATGTTTCTAACAGCTTTATTC... | ACACCTCAGGACATGTTTCCCCCGTATAGTACTTAAAATCTTTTAATCTACACACTCATTAAAATGGCCAATACTAATGCAGTTGATAATACCAAATGCTGAGAAGGACAAGGAGCAGCTAGAACTCTCTTCTACTTCTGTTGTGATGAGTAATGGTACAGCCAGTGTGGAAAGCAGTTTGGCAGTTCCTTAACAAATTAAACATACACCTACCATAAACTATATGCCTAGCCTTTCCACTGCTAACAATTTACCCAGTAGAAAGGAAAATATATGTCCACACAAAGACTTGGGCATGAATGTTTCTAACAGCTTTATTC... |
Task1_train_2936 | The gene RYR2 (ryanodine receptor 2) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TCCTAGAAAATGCAAGCTAAATTGTAGTGAGAGAAAACCGATTGTCTGGGACTAGGTGTGTGGGGAGAAAGGGACTGCAAAGGGCCCAGGGAGCTCTGAGGAGTGACGGCCATGTTCTGCGTCTTGATTATGGTGTGTTCTCACAGATGTCTACATCTCTCAAAGCTCATTGAATTTATACTTCAAAGAGATGAGTTTATTGCACATTGGTTCTCTTGCTTCACTATAGTTGATATAAAACATTTTTAGCTATATTATTATTTATATTTGAAACTGATTTAACTTAAGCTGGATATAACTCAATTTGCTTGATAAGTTGC... | TCCTAGAAAATGCAAGCTAAATTGTAGTGAGAGAAAACCGATTGTCTGGGACTAGGTGTGTGGGGAGAAAGGGACTGCAAAGGGCCCAGGGAGCTCTGAGGAGTGACGGCCATGTTCTGCGTCTTGATTATGGTGTGTTCTCACAGATGTCTACATCTCTCAAAGCTCATTGAATTTATACTTCAAAGAGATGAGTTTATTGCACATTGGTTCTCTTGCTTCACTATAGTTGATATAAAACATTTTTAGCTATATTATTATTTATATTTGAAACTGATTTAACTTAAGCTGGATATAACTCAATTTGCTTGATAAGTTGC... |
Task1_train_2937 | Consider this mutation in RYR2 (ryanodine receptor 2) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | GACTAGGTGTGTGGGGAGAAAGGGACTGCAAAGGGCCCAGGGAGCTCTGAGGAGTGACGGCCATGTTCTGCGTCTTGATTATGGTGTGTTCTCACAGATGTCTACATCTCTCAAAGCTCATTGAATTTATACTTCAAAGAGATGAGTTTATTGCACATTGGTTCTCTTGCTTCACTATAGTTGATATAAAACATTTTTAGCTATATTATTATTTATATTTGAAACTGATTTAACTTAAGCTGGATATAACTCAATTTGCTTGATAAGTTGCTCCTCTGTCAGTCTTACTTCCATTGATAATGACTTTTCTAAGGATTTCT... | GACTAGGTGTGTGGGGAGAAAGGGACTGCAAAGGGCCCAGGGAGCTCTGAGGAGTGACGGCCATGTTCTGCGTCTTGATTATGGTGTGTTCTCACAGATGTCTACATCTCTCAAAGCTCATTGAATTTATACTTCAAAGAGATGAGTTTATTGCACATTGGTTCTCTTGCTTCACTATAGTTGATATAAAACATTTTTAGCTATATTATTATTTATATTTGAAACTGATTTAACTTAAGCTGGATATAACTCAATTTGCTTGATAAGTTGCTCCTCTGTCAGTCTTACTTCCATTGATAATGACTTTTCTAAGGATTTCT... |
Task1_train_2938 | A variant affecting Chromosome 1, within the gene RYR2 (ryanodine receptor 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | GACTAGGTGTGTGGGGAGAAAGGGACTGCAAAGGGCCCAGGGAGCTCTGAGGAGTGACGGCCATGTTCTGCGTCTTGATTATGGTGTGTTCTCACAGATGTCTACATCTCTCAAAGCTCATTGAATTTATACTTCAAAGAGATGAGTTTATTGCACATTGGTTCTCTTGCTTCACTATAGTTGATATAAAACATTTTTAGCTATATTATTATTTATATTTGAAACTGATTTAACTTAAGCTGGATATAACTCAATTTGCTTGATAAGTTGCTCCTCTGTCAGTCTTACTTCCATTGATAATGACTTTTCTAAGGATTTCT... | GACTAGGTGTGTGGGGAGAAAGGGACTGCAAAGGGCCCAGGGAGCTCTGAGGAGTGACGGCCATGTTCTGCGTCTTGATTATGGTGTGTTCTCACAGATGTCTACATCTCTCAAAGCTCATTGAATTTATACTTCAAAGAGATGAGTTTATTGCACATTGGTTCTCTTGCTTCACTATAGTTGATATAAAACATTTTTAGCTATATTATTATTTATATTTGAAACTGATTTAACTTAAGCTGGATATAACTCAATTTGCTTGATAAGTTGCTCCTCTGTCAGTCTTACTTCCATTGATAATGACTTTTCTAAGGATTTCT... |
Task1_train_2939 | A mutation on Chromosome 1 affecting RYR2 (ryanodine receptor 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | GCTTTATTAGTATATTGTTGGGTTTTAGTTATTCTTATACATAGGAAATGATTAGTATAACATTTATTTGTTCAGAACTTCCATATAATCATATTTGTTTACTTATCTTCCCCATTCTACTTTAGGGGAGAGTGTGGAGGAAAATGCAAATGTCGTGGTGAGATTGCTCATTCGGAGGCCTGAGTGTTTTGGTCCTGCTTTGAGAGGAGAAGGTGGGAATGGGCTTCTTGCAGCAATGGAAGAAGCCATCAAAATCGCCGAGGATCCTTCCCGAGATGGTCCCTCACCAAATAGCGGATCCAGTAAAACACTGTAGGTCT... | GCTTTATTAGTATATTGTTGGGTTTTAGTTATTCTTATACATAGGAAATGATTAGTATAACATTTATTTGTTCAGAACTTCCATATAATCATATTTGTTTACTTATCTTCCCCATTCTACTTTAGGGGAGAGTGTGGAGGAAAATGCAAATGTCGTGGTGAGATTGCTCATTCGGAGGCCTGAGTGTTTTGGTCCTGCTTTGAGAGGAGAAGGTGGGAATGGGCTTCTTGCAGCAATGGAAGAAGCCATCAAAATCGCCGAGGATCCTTCCCGAGATGGTCCCTCACCAAATAGCGGATCCAGTAAAACACTGTAGGTCT... |
Task1_train_2940 | Consider this mutation in RYR2 (ryanodine receptor 2) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TGGGTTTTAGTTATTCTTATACATAGGAAATGATTAGTATAACATTTATTTGTTCAGAACTTCCATATAATCATATTTGTTTACTTATCTTCCCCATTCTACTTTAGGGGAGAGTGTGGAGGAAAATGCAAATGTCGTGGTGAGATTGCTCATTCGGAGGCCTGAGTGTTTTGGTCCTGCTTTGAGAGGAGAAGGTGGGAATGGGCTTCTTGCAGCAATGGAAGAAGCCATCAAAATCGCCGAGGATCCTTCCCGAGATGGTCCCTCACCAAATAGCGGATCCAGTAAAACACTGTAGGTCTAATATACACACCCTCACG... | TGGGTTTTAGTTATTCTTATACATAGGAAATGATTAGTATAACATTTATTTGTTCAGAACTTCCATATAATCATATTTGTTTACTTATCTTCCCCATTCTACTTTAGGGGAGAGTGTGGAGGAAAATGCAAATGTCGTGGTGAGATTGCTCATTCGGAGGCCTGAGTGTTTTGGTCCTGCTTTGAGAGGAGAAGGTGGGAATGGGCTTCTTGCAGCAATGGAAGAAGCCATCAAAATCGCCGAGGATCCTTCCCGAGATGGTCCCTCACCAAATAGCGGATCCAGTAAAACACTGTAGGTCTAATATACACACCCTCACG... |
Task1_train_2941 | A sequence alteration has been identified in RYR2 (ryanodine receptor 2) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; not provided | TCTTATACATAGGAAATGATTAGTATAACATTTATTTGTTCAGAACTTCCATATAATCATATTTGTTTACTTATCTTCCCCATTCTACTTTAGGGGAGAGTGTGGAGGAAAATGCAAATGTCGTGGTGAGATTGCTCATTCGGAGGCCTGAGTGTTTTGGTCCTGCTTTGAGAGGAGAAGGTGGGAATGGGCTTCTTGCAGCAATGGAAGAAGCCATCAAAATCGCCGAGGATCCTTCCCGAGATGGTCCCTCACCAAATAGCGGATCCAGTAAAACACTGTAGGTCTAATATACACACCCTCACGAGTGATCCATACTA... | TCTTATACATAGGAAATGATTAGTATAACATTTATTTGTTCAGAACTTCCATATAATCATATTTGTTTACTTATCTTCCCCATTCTACTTTAGGGGAGAGTGTGGAGGAAAATGCAAATGTCGTGGTGAGATTGCTCATTCGGAGGCCTGAGTGTTTTGGTCCTGCTTTGAGAGGAGAAGGTGGGAATGGGCTTCTTGCAGCAATGGAAGAAGCCATCAAAATCGCCGAGGATCCTTCCCGAGATGGTCCCTCACCAAATAGCGGATCCAGTAAAACACTGTAGGTCTAATATACACACCCTCACGAGTGATCCATACTA... |
Task1_train_2942 | A change on Chromosome 1 affects gene RYR2 (ryanodine receptor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | ATAACATTTATTTGTTCAGAACTTCCATATAATCATATTTGTTTACTTATCTTCCCCATTCTACTTTAGGGGAGAGTGTGGAGGAAAATGCAAATGTCGTGGTGAGATTGCTCATTCGGAGGCCTGAGTGTTTTGGTCCTGCTTTGAGAGGAGAAGGTGGGAATGGGCTTCTTGCAGCAATGGAAGAAGCCATCAAAATCGCCGAGGATCCTTCCCGAGATGGTCCCTCACCAAATAGCGGATCCAGTAAAACACTGTAGGTCTAATATACACACCCTCACGAGTGATCCATACTACTTGATGTGAAATTTTATAAAATA... | ATAACATTTATTTGTTCAGAACTTCCATATAATCATATTTGTTTACTTATCTTCCCCATTCTACTTTAGGGGAGAGTGTGGAGGAAAATGCAAATGTCGTGGTGAGATTGCTCATTCGGAGGCCTGAGTGTTTTGGTCCTGCTTTGAGAGGAGAAGGTGGGAATGGGCTTCTTGCAGCAATGGAAGAAGCCATCAAAATCGCCGAGGATCCTTCCCGAGATGGTCCCTCACCAAATAGCGGATCCAGTAAAACACTGTAGGTCTAATATACACACCCTCACGAGTGATCCATACTACTTGATGTGAAATTTTATAAAATA... |
Task1_train_2943 | Consider a variant on Chromosome 1 in gene RYR2 (ryanodine receptor 2). Determine its clinical classification and disease relevance. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | ATTTCTTTCTCCTTTTCAATGACAACTCAATTGGTCTATAAGCATCACCAAGTAGCAGTAATAATGGTTATTATACATTCCATATTTAGTATGTGAAGTTTGTCTCTAAAGAATGATATTTTCCCTTCTCAGGATTAGCTAGGGTCTTCCTCAGACATTTTTATCATATTTATTTCCAAGCTAGAGTATGCCTCAGAATAATAATGAAAGAAGGAGGGGTTCAGAAAACTTGAGGAACAAGCACATAATCTTGCAGCTCTTGGCCCAGACTGATTTGGCCGCCCTGTCTGAGGCAGTAATTGTGGGTGGATGAATACAGC... | ATTTCTTTCTCCTTTTCAATGACAACTCAATTGGTCTATAAGCATCACCAAGTAGCAGTAATAATGGTTATTATACATTCCATATTTAGTATGTGAAGTTTGTCTCTAAAGAATGATATTTTCCCTTCTCAGGATTAGCTAGGGTCTTCCTCAGACATTTTTATCATATTTATTTCCAAGCTAGAGTATGCCTCAGAATAATAATGAAAGAAGGAGGGGTTCAGAAAACTTGAGGAACAAGCACATAATCTTGCAGCTCTTGGCCCAGACTGATTTGGCCGCCCTGTCTGAGGCAGTAATTGTGGGTGGATGAATACAGC... |
Task1_train_2944 | The variant affects gene RYR2 (ryanodine receptor 2), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | AAGCAATATGACCCTTAAATGCACGTTAAATGCTATTATGATTAATGAAACATATTTCATATGAAAGCCATACTGGTTTTATAGTGTCATTTCATCATTTCGTTATTGTTCTAAGACGTGAAAATGTAAATATACCAAGATTATCACATAAAGGTAGATGAGCTTTATTCATGTTTAAAACAGGCTCACTTAGAAAAGAGTGAACATCCCCACTTCACATTTTCACTTTTCATGGATTTCACTTGGAGTTTTAGAAAGTAGATTTTGGATGCCTGTTTGTTTCTCCTAAGTATCTAACAATGCCATGTCTTGTATCCTGT... | AAGCAATATGACCCTTAAATGCACGTTAAATGCTATTATGATTAATGAAACATATTTCATATGAAAGCCATACTGGTTTTATAGTGTCATTTCATCATTTCGTTATTGTTCTAAGACGTGAAAATGTAAATATACCAAGATTATCACATAAAGGTAGATGAGCTTTATTCATGTTTAAAACAGGCTCACTTAGAAAAGAGTGAACATCCCCACTTCACATTTTCACTTTTCATGGATTTCACTTGGAGTTTTAGAAAGTAGATTTTGGATGCCTGTTTGTTTCTCCTAAGTATCTAACAATGCCATGTCTTGTATCCTGT... |
Task1_train_2945 | The following genetic variant occurs in RYR2 (ryanodine receptor 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TTTTTTTTTACATGACGTTTTGGTGCTTTTTGGTTTTTGCCAAAGACCAATAACATTCAAGGAAATTAATTTACCTTCATGCAATGGAATTCAGGCAAATTAATTCATCTTAATGCAGTGGGATGAAATAAGAAAGCAGAATTTTTGGTGCAATTAGAATGGAATGAAAATTTTTAAACTTTAAGCCCACCTTATTTCATAAAGGATATGAGCTGACTTTAAAAGTTTGTAAACAATAAGATTTAAAAATACAGTGAGATGGGAGGGAGAGGGGATTATTGAAAACCTCGGTTAAAACTCTTTTAGTCTGGTGCAGTGCT... | TTTTTTTTTACATGACGTTTTGGTGCTTTTTGGTTTTTGCCAAAGACCAATAACATTCAAGGAAATTAATTTACCTTCATGCAATGGAATTCAGGCAAATTAATTCATCTTAATGCAGTGGGATGAAATAAGAAAGCAGAATTTTTGGTGCAATTAGAATGGAATGAAAATTTTTAAACTTTAAGCCCACCTTATTTCATAAAGGATATGAGCTGACTTTAAAAGTTTGTAAACAATAAGATTTAAAAATACAGTGAGATGGGAGGGAGAGGGGATTATTGAAAACCTCGGTTAAAACTCTTTTAGTCTGGTGCAGTGCT... |
Task1_train_2946 | This genomic variant is located on Chromosome 1, within the RYR2 (ryanodine receptor 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia | TTTTTTTTTACATGACGTTTTGGTGCTTTTTGGTTTTTGCCAAAGACCAATAACATTCAAGGAAATTAATTTACCTTCATGCAATGGAATTCAGGCAAATTAATTCATCTTAATGCAGTGGGATGAAATAAGAAAGCAGAATTTTTGGTGCAATTAGAATGGAATGAAAATTTTTAAACTTTAAGCCCACCTTATTTCATAAAGGATATGAGCTGACTTTAAAAGTTTGTAAACAATAAGATTTAAAAATACAGTGAGATGGGAGGGAGAGGGGATTATTGAAAACCTCGGTTAAAACTCTTTTAGTCTGGTGCAGTGCT... | TTTTTTTTTACATGACGTTTTGGTGCTTTTTGGTTTTTGCCAAAGACCAATAACATTCAAGGAAATTAATTTACCTTCATGCAATGGAATTCAGGCAAATTAATTCATCTTAATGCAGTGGGATGAAATAAGAAAGCAGAATTTTTGGTGCAATTAGAATGGAATGAAAATTTTTAAACTTTAAGCCCACCTTATTTCATAAAGGATATGAGCTGACTTTAAAAGTTTGTAAACAATAAGATTTAAAAATACAGTGAGATGGGAGGGAGAGGGGATTATTGAAAACCTCGGTTAAAACTCTTTTAGTCTGGTGCAGTGCT... |
Task1_train_2947 | A sequence alteration has been identified in RYR2 (ryanodine receptor 2) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | AACTGAGCCCTTTTCTGAGGTTTTCTCCTTGCCCCAAAAATATTTGTTAGTGTTGGATGATGCAGAGGAACTTCTGTAACTAGGGGACGCCTTTCTTTTCACCTTTCTTTATTAGTTTTAGCTCTCACAACACGAGCCACCAAAGTCTGTCTTTTGGTTTCATATTTAGAATTAAGGTTGTTTGCCATTTCCTCCTCCTATGGAAGTAATGCTCAAACCAGTCACATCTCTATTTTAGATTTCAGAAATCTTTCTTTTTATTCAGTAGTCAACCTGATAACAAAGTTAATTAAAACAAGTTAATCAACAATTTTCTAGTG... | AACTGAGCCCTTTTCTGAGGTTTTCTCCTTGCCCCAAAAATATTTGTTAGTGTTGGATGATGCAGAGGAACTTCTGTAACTAGGGGACGCCTTTCTTTTCACCTTTCTTTATTAGTTTTAGCTCTCACAACACGAGCCACCAAAGTCTGTCTTTTGGTTTCATATTTAGAATTAAGGTTGTTTGCCATTTCCTCCTCCTATGGAAGTAATGCTCAAACCAGTCACATCTCTATTTTAGATTTCAGAAATCTTTCTTTTTATTCAGTAGTCAACCTGATAACAAAGTTAATTAAAACAAGTTAATCAACAATTTTCTAGTG... |
Task1_train_2948 | This variant affects gene RYR2 (ryanodine receptor 2) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TATTTGTTAGTGTTGGATGATGCAGAGGAACTTCTGTAACTAGGGGACGCCTTTCTTTTCACCTTTCTTTATTAGTTTTAGCTCTCACAACACGAGCCACCAAAGTCTGTCTTTTGGTTTCATATTTAGAATTAAGGTTGTTTGCCATTTCCTCCTCCTATGGAAGTAATGCTCAAACCAGTCACATCTCTATTTTAGATTTCAGAAATCTTTCTTTTTATTCAGTAGTCAACCTGATAACAAAGTTAATTAAAACAAGTTAATCAACAATTTTCTAGTGATTTACAGCTTTCACAAAAATCCATGAATTATTCTTTAAT... | TATTTGTTAGTGTTGGATGATGCAGAGGAACTTCTGTAACTAGGGGACGCCTTTCTTTTCACCTTTCTTTATTAGTTTTAGCTCTCACAACACGAGCCACCAAAGTCTGTCTTTTGGTTTCATATTTAGAATTAAGGTTGTTTGCCATTTCCTCCTCCTATGGAAGTAATGCTCAAACCAGTCACATCTCTATTTTAGATTTCAGAAATCTTTCTTTTTATTCAGTAGTCAACCTGATAACAAAGTTAATTAAAACAAGTTAATCAACAATTTTCTAGTGATTTACAGCTTTCACAAAAATCCATGAATTATTCTTTAAT... |
Task1_train_2949 | Located on Chromosome 1, this mutation impacts RYR2 (ryanodine receptor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | ATTAACCCCAGGCTTCCTCTGGGTTGTTGCTGTGGGAGAGAGGAGGTATGGGGAAGGAAAGGTCTCTTCCGGGGCACATGTAATCCCAGAGTGCACCACGGAGCTGGCCCTCTGGTGTGGTGTGTTGTATTTTTTTATCTAACGTGCGAGCCTGGCCCTCTTAGTCCTCCAGTGCCTGGAAATGACTCTTTTCCCATCCAGTTTAAAGTTATTCAATCAGACCTCAAGCATCTGGTGGCCCCCATCCACCTTGGAATTATGTTACCATTTCAGACTGATTTCAGATGGGGCAGAATGGCCCCTTCCTGAGTAGTCCATAT... | ATTAACCCCAGGCTTCCTCTGGGTTGTTGCTGTGGGAGAGAGGAGGTATGGGGAAGGAAAGGTCTCTTCCGGGGCACATGTAATCCCAGAGTGCACCACGGAGCTGGCCCTCTGGTGTGGTGTGTTGTATTTTTTTATCTAACGTGCGAGCCTGGCCCTCTTAGTCCTCCAGTGCCTGGAAATGACTCTTTTCCCATCCAGTTTAAAGTTATTCAATCAGACCTCAAGCATCTGGTGGCCCCCATCCACCTTGGAATTATGTTACCATTTCAGACTGATTTCAGATGGGGCAGAATGGCCCCTTCCTGAGTAGTCCATAT... |
Task1_train_2950 | Gene RYR2 (ryanodine receptor 2), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TTAACCCCAGGCTTCCTCTGGGTTGTTGCTGTGGGAGAGAGGAGGTATGGGGAAGGAAAGGTCTCTTCCGGGGCACATGTAATCCCAGAGTGCACCACGGAGCTGGCCCTCTGGTGTGGTGTGTTGTATTTTTTTATCTAACGTGCGAGCCTGGCCCTCTTAGTCCTCCAGTGCCTGGAAATGACTCTTTTCCCATCCAGTTTAAAGTTATTCAATCAGACCTCAAGCATCTGGTGGCCCCCATCCACCTTGGAATTATGTTACCATTTCAGACTGATTTCAGATGGGGCAGAATGGCCCCTTCCTGAGTAGTCCATATA... | TTAACCCCAGGCTTCCTCTGGGTTGTTGCTGTGGGAGAGAGGAGGTATGGGGAAGGAAAGGTCTCTTCCGGGGCACATGTAATCCCAGAGTGCACCACGGAGCTGGCCCTCTGGTGTGGTGTGTTGTATTTTTTTATCTAACGTGCGAGCCTGGCCCTCTTAGTCCTCCAGTGCCTGGAAATGACTCTTTTCCCATCCAGTTTAAAGTTATTCAATCAGACCTCAAGCATCTGGTGGCCCCCATCCACCTTGGAATTATGTTACCATTTCAGACTGATTTCAGATGGGGCAGAATGGCCCCTTCCTGAGTAGTCCATATA... |
Task1_train_2951 | A variant affecting Chromosome 1, within the gene RYR2 (ryanodine receptor 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TGCAGTAAAGTGAAGAACCTATCCCTCAGGCCTGCAAATGACAATATGCAGGATATATTGTCAAAGATCAGCAGGGCTGGATGCTAGTAAAAGTGGTAAGGATACATCTTAATGTCAAAGATAAACAAAGCTGGATACTAGTTAAGCGAATAAGGACAGATTTTAATCAGTAGTGCTATTGCAACAAGGAAAAAGAGTTCAGCATGAACTGAACCTGATTTGATTTGTACAGAGGTGACTGGGAATATTAATGGGAGAATGAAGATTAGAGAAGGGGCGAGCAGGAGCTCAGTAGAGTCAGAGGAGTGAAAAGTTACAAA... | TGCAGTAAAGTGAAGAACCTATCCCTCAGGCCTGCAAATGACAATATGCAGGATATATTGTCAAAGATCAGCAGGGCTGGATGCTAGTAAAAGTGGTAAGGATACATCTTAATGTCAAAGATAAACAAAGCTGGATACTAGTTAAGCGAATAAGGACAGATTTTAATCAGTAGTGCTATTGCAACAAGGAAAAAGAGTTCAGCATGAACTGAACCTGATTTGATTTGTACAGAGGTGACTGGGAATATTAATGGGAGAATGAAGATTAGAGAAGGGGCGAGCAGGAGCTCAGTAGAGTCAGAGGAGTGAAAAGTTACAAA... |
Task1_train_2952 | The gene RYR2 (ryanodine receptor 2), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cardiovascular phenotype | TGCTGTCCATGTTAGAAGGTAGTTTTGATTTATACTTTTAAATTCTCTTTATTATCTTATTTAAAGGATCAGCATGGGCTTATGGAATCAGAGTGTAGCATAGAATAAAATAGCACTCAGATATGATAGATGCCTTGGATTTCTTGCTGGCTTATTATTCTTTTTCTCACATTAGTTTTTTTTTAAAGGGAGATCCTGCATATCTCAGTTTACATATCTACAAAATGAAAATAGTAGTACTTTATAACAGTACTTTTCATTTCATAGTGATATCGTAAAAAGTAAGCTCTCCAGTCTATAAAGAATATTTTATTTGTTAG... | TGCTGTCCATGTTAGAAGGTAGTTTTGATTTATACTTTTAAATTCTCTTTATTATCTTATTTAAAGGATCAGCATGGGCTTATGGAATCAGAGTGTAGCATAGAATAAAATAGCACTCAGATATGATAGATGCCTTGGATTTCTTGCTGGCTTATTATTCTTTTTCTCACATTAGTTTTTTTTTAAAGGGAGATCCTGCATATCTCAGTTTACATATCTACAAAATGAAAATAGTAGTACTTTATAACAGTACTTTTCATTTCATAGTGATATCGTAAAAAGTAAGCTCTCCAGTCTATAAAGAATATTTTATTTGTTAG... |
Task1_train_2953 | This variant lies on Chromosome 1 and affects the gene RYR2 (ryanodine receptor 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | GTAGTTTTGATTTATACTTTTAAATTCTCTTTATTATCTTATTTAAAGGATCAGCATGGGCTTATGGAATCAGAGTGTAGCATAGAATAAAATAGCACTCAGATATGATAGATGCCTTGGATTTCTTGCTGGCTTATTATTCTTTTTCTCACATTAGTTTTTTTTTAAAGGGAGATCCTGCATATCTCAGTTTACATATCTACAAAATGAAAATAGTAGTACTTTATAACAGTACTTTTCATTTCATAGTGATATCGTAAAAAGTAAGCTCTCCAGTCTATAAAGAATATTTTATTTGTTAGTGTGTTTGTCCATAATCA... | GTAGTTTTGATTTATACTTTTAAATTCTCTTTATTATCTTATTTAAAGGATCAGCATGGGCTTATGGAATCAGAGTGTAGCATAGAATAAAATAGCACTCAGATATGATAGATGCCTTGGATTTCTTGCTGGCTTATTATTCTTTTTCTCACATTAGTTTTTTTTTAAAGGGAGATCCTGCATATCTCAGTTTACATATCTACAAAATGAAAATAGTAGTACTTTATAACAGTACTTTTCATTTCATAGTGATATCGTAAAAAGTAAGCTCTCCAGTCTATAAAGAATATTTTATTTGTTAGTGTGTTTGTCCATAATCA... |
Task1_train_2954 | Consider this mutation in RYR2 (ryanodine receptor 2) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TATACTTTTAAATTCTCTTTATTATCTTATTTAAAGGATCAGCATGGGCTTATGGAATCAGAGTGTAGCATAGAATAAAATAGCACTCAGATATGATAGATGCCTTGGATTTCTTGCTGGCTTATTATTCTTTTTCTCACATTAGTTTTTTTTTAAAGGGAGATCCTGCATATCTCAGTTTACATATCTACAAAATGAAAATAGTAGTACTTTATAACAGTACTTTTCATTTCATAGTGATATCGTAAAAAGTAAGCTCTCCAGTCTATAAAGAATATTTTATTTGTTAGTGTGTTTGTCCATAATCAGTGGGGGTTTCG... | TATACTTTTAAATTCTCTTTATTATCTTATTTAAAGGATCAGCATGGGCTTATGGAATCAGAGTGTAGCATAGAATAAAATAGCACTCAGATATGATAGATGCCTTGGATTTCTTGCTGGCTTATTATTCTTTTTCTCACATTAGTTTTTTTTTAAAGGGAGATCCTGCATATCTCAGTTTACATATCTACAAAATGAAAATAGTAGTACTTTATAACAGTACTTTTCATTTCATAGTGATATCGTAAAAAGTAAGCTCTCCAGTCTATAAAGAATATTTTATTTGTTAGTGTGTTTGTCCATAATCAGTGGGGGTTTCG... |
Task1_train_2955 | An alteration has been detected in RYR2 (ryanodine receptor 2) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | ATATTTTATTTGTTAGTGTGTTTGTCCATAATCAGTGGGGGTTTCGGACATTTGGGTAACAGTCAGCTGTGTAAGCTGCTGCTTTGAAAAGACCACAGAGTCACTCCTTTGGGTTCTTAAAGCCGTGGCACTGCTGGGAAAGCCTCTGTCCCCCAGGGCAGCTGGCAGTGGTAGTCTTGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCC... | ATATTTTATTTGTTAGTGTGTTTGTCCATAATCAGTGGGGGTTTCGGACATTTGGGTAACAGTCAGCTGTGTAAGCTGCTGCTTTGAAAAGACCACAGAGTCACTCCTTTGGGTTCTTAAAGCCGTGGCACTGCTGGGAAAGCCTCTGTCCCCCAGGGCAGCTGGCAGTGGTAGTCTTGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCC... |
Task1_train_2956 | Given this variant in gene RYR2 (ryanodine receptor 2) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TTTTATTTGTTAGTGTGTTTGTCCATAATCAGTGGGGGTTTCGGACATTTGGGTAACAGTCAGCTGTGTAAGCTGCTGCTTTGAAAAGACCACAGAGTCACTCCTTTGGGTTCTTAAAGCCGTGGCACTGCTGGGAAAGCCTCTGTCCCCCAGGGCAGCTGGCAGTGGTAGTCTTGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGA... | TTTTATTTGTTAGTGTGTTTGTCCATAATCAGTGGGGGTTTCGGACATTTGGGTAACAGTCAGCTGTGTAAGCTGCTGCTTTGAAAAGACCACAGAGTCACTCCTTTGGGTTCTTAAAGCCGTGGCACTGCTGGGAAAGCCTCTGTCCCCCAGGGCAGCTGGCAGTGGTAGTCTTGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGA... |
Task1_train_2957 | The gene RYR2 (ryanodine receptor 2), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TCGGACATTTGGGTAACAGTCAGCTGTGTAAGCTGCTGCTTTGAAAAGACCACAGAGTCACTCCTTTGGGTTCTTAAAGCCGTGGCACTGCTGGGAAAGCCTCTGTCCCCCAGGGCAGCTGGCAGTGGTAGTCTTGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCC... | TCGGACATTTGGGTAACAGTCAGCTGTGTAAGCTGCTGCTTTGAAAAGACCACAGAGTCACTCCTTTGGGTTCTTAAAGCCGTGGCACTGCTGGGAAAGCCTCTGTCCCCCAGGGCAGCTGGCAGTGGTAGTCTTGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCC... |
Task1_train_2958 | The gene RYR2 (ryanodine receptor 2) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | GCTGTGTAAGCTGCTGCTTTGAAAAGACCACAGAGTCACTCCTTTGGGTTCTTAAAGCCGTGGCACTGCTGGGAAAGCCTCTGTCCCCCAGGGCAGCTGGCAGTGGTAGTCTTGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATT... | GCTGTGTAAGCTGCTGCTTTGAAAAGACCACAGAGTCACTCCTTTGGGTTCTTAAAGCCGTGGCACTGCTGGGAAAGCCTCTGTCCCCCAGGGCAGCTGGCAGTGGTAGTCTTGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATT... |
Task1_train_2959 | A mutation in RYR2 (ryanodine receptor 2), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cardiovascular phenotype | GCTGTGTAAGCTGCTGCTTTGAAAAGACCACAGAGTCACTCCTTTGGGTTCTTAAAGCCGTGGCACTGCTGGGAAAGCCTCTGTCCCCCAGGGCAGCTGGCAGTGGTAGTCTTGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATT... | GCTGTGTAAGCTGCTGCTTTGAAAAGACCACAGAGTCACTCCTTTGGGTTCTTAAAGCCGTGGCACTGCTGGGAAAGCCTCTGTCCCCCAGGGCAGCTGGCAGTGGTAGTCTTGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATT... |
Task1_train_2960 | Consider this mutation in RYR2 (ryanodine receptor 2) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | CTCCTTTGGGTTCTTAAAGCCGTGGCACTGCTGGGAAAGCCTCTGTCCCCCAGGGCAGCTGGCAGTGGTAGTCTTGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGAT... | CTCCTTTGGGTTCTTAAAGCCGTGGCACTGCTGGGAAAGCCTCTGTCCCCCAGGGCAGCTGGCAGTGGTAGTCTTGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGAT... |
Task1_train_2961 | This mutation occurs in LOC126806068, RYR2 (BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610| ryanodine receptor 2) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGATATTGATATGAGAATTCAGTGGAATCCTATAAATACAACCAAAACAACTAAGAAATGTTTGGTATTACGGTGCCT... | TGTTCTCCCCACCACAGCCTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGATATTGATATGAGAATTCAGTGGAATCCTATAAATACAACCAAAACAACTAAGAAATGTTTGGTATTACGGTGCCT... |
Task1_train_2962 | The gene LOC126806068, RYR2 (BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610| ryanodine receptor 2) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | CTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGATATTGATATGAGAATTCAGTGGAATCCTATAAATACAACCAAAACAACTAAGAAATGTTTGGTATTACGGTGCCTATCACTTTTTCTTAACTT... | CTCAGTTTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGATATTGATATGAGAATTCAGTGGAATCCTATAAATACAACCAAAACAACTAAGAAATGTTTGGTATTACGGTGCCTATCACTTTTTCTTAACTT... |
Task1_train_2963 | The variant affects gene LOC126806068, RYR2 (BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610| ryanodine receptor 2), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGATATTGATATGAGAATTCAGTGGAATCCTATAAATACAACCAAAACAACTAAGAAATGTTTGGTATTACGGTGCCTATCACTTTTTCTTAACTTCTTCCT... | TTTAATTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGATATTGATATGAGAATTCAGTGGAATCCTATAAATACAACCAAAACAACTAAGAAATGTTTGGTATTACGGTGCCTATCACTTTTTCTTAACTTCTTCCT... |
Task1_train_2964 | This variant lies on Chromosome 1 and affects the gene LOC126806068, RYR2 (BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610| ryanodine receptor 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGATATTGATATGAGAATTCAGTGGAATCCTATAAATACAACCAAAACAACTAAGAAATGTTTGGTATTACGGTGCCTATCACTTTTTCTTAACTTCTTCCTATTTT... | TTTTCTCTTTTTTTTTCTTCCCAGCTTATTTTGTTATTGCTTTTTTTTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGATATTGATATGAGAATTCAGTGGAATCCTATAAATACAACCAAAACAACTAAGAAATGTTTGGTATTACGGTGCCTATCACTTTTTCTTAACTTCTTCCTATTTT... |
Task1_train_2965 | The gene LOC126806068, RYR2 (BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610| ryanodine receptor 2), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGATATTGATATGAGAATTCAGTGGAATCCTATAAATACAACCAAAACAACTAAGAAATGTTTGGTATTACGGTGCCTATCACTTTTTCTTAACTTCTTCCTATTTTCTCTCCGTGTCTGCCATACATGGCGTAACTCCACTTCAGTTAACTG... | TTTTTTTTTTTTTCCTGTAGCAGGCAGGAAATGTAGCAGTTAAGAGCTTGGGCTCCAAATCCACCGCCAGAGTTTAAATCCTGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGATATTGATATGAGAATTCAGTGGAATCCTATAAATACAACCAAAACAACTAAGAAATGTTTGGTATTACGGTGCCTATCACTTTTTCTTAACTTCTTCCTATTTTCTCTCCGTGTCTGCCATACATGGCGTAACTCCACTTCAGTTAACTG... |
Task1_train_2966 | This mutation occurs in LOC126806068, RYR2 (BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610| ryanodine receptor 2) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGATATTGATATGAGAATTCAGTGGAATCCTATAAATACAACCAAAACAACTAAGAAATGTTTGGTATTACGGTGCCTATCACTTTTTCTTAACTTCTTCCTATTTTCTCTCCGTGTCTGCCATACATGGCGTAACTCCACTTCAGTTAACTGAGGCAGCTGTCACGCCTCGTGCTAGGACTTTGAAGTGGCAGCATCTGCTTAAAGCCCTTAGTCGGTGGCAACAGTAGCCAC... | TGGCTTCCTTACCTCTGGGAGGTATGACCCTTGGACAAGCTACATCTCCATTTTTTCAGTTTCCTCCTCTGCAAAATAGAAATGATAGATATTGATATGAGAATTCAGTGGAATCCTATAAATACAACCAAAACAACTAAGAAATGTTTGGTATTACGGTGCCTATCACTTTTTCTTAACTTCTTCCTATTTTCTCTCCGTGTCTGCCATACATGGCGTAACTCCACTTCAGTTAACTGAGGCAGCTGTCACGCCTCGTGCTAGGACTTTGAAGTGGCAGCATCTGCTTAAAGCCCTTAGTCGGTGGCAACAGTAGCCAC... |
Task1_train_2967 | This genomic variant is located on Chromosome 1, within the RYR2 (ryanodine receptor 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cardiomyopathy | CTAAACCATCTTGTATTTTCCCTATATTGTTTAATACAGAGTTCACTGAACAGAAATGTTTCCTAGATAACTAACTCTGAATAATTCCTAATTTGGTATGCCATAATGGCTTCCATGGCTGCAGGTATAGTTCTATTATAGGTCATGGCTGCAGGTATAGTTCTATTATAGGTCATGGCTGCAGGTATAGTTCTATTATAGGTGGTTTAAAGGTTGAATGGGCGCTGCAGCACCCCAGTGGGTTCCTGAAGAATGTGTTTAACTACAGTTGTGTAAACCAAGTAGTTGAGATTTTGCTTCCAGCTTTCACTGTGTCAGGG... | CTAAACCATCTTGTATTTTCCCTATATTGTTTAATACAGAGTTCACTGAACAGAAATGTTTCCTAGATAACTAACTCTGAATAATTCCTAATTTGGTATGCCATAATGGCTTCCATGGCTGCAGGTATAGTTCTATTATAGGTCATGGCTGCAGGTATAGTTCTATTATAGGTCATGGCTGCAGGTATAGTTCTATTATAGGTGGTTTAAAGGTTGAATGGGCGCTGCAGCACCCCAGTGGGTTCCTGAAGAATGTGTTTAACTACAGTTGTGTAAACCAAGTAGTTGAGATTTTGCTTCCAGCTTTCACTGTGTCAGGG... |
Task1_train_2968 | The following genetic variant occurs in RYR2 (ryanodine receptor 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | CTAAACCATCTTGTATTTTCCCTATATTGTTTAATACAGAGTTCACTGAACAGAAATGTTTCCTAGATAACTAACTCTGAATAATTCCTAATTTGGTATGCCATAATGGCTTCCATGGCTGCAGGTATAGTTCTATTATAGGTCATGGCTGCAGGTATAGTTCTATTATAGGTCATGGCTGCAGGTATAGTTCTATTATAGGTGGTTTAAAGGTTGAATGGGCGCTGCAGCACCCCAGTGGGTTCCTGAAGAATGTGTTTAACTACAGTTGTGTAAACCAAGTAGTTGAGATTTTGCTTCCAGCTTTCACTGTGTCAGGG... | CTAAACCATCTTGTATTTTCCCTATATTGTTTAATACAGAGTTCACTGAACAGAAATGTTTCCTAGATAACTAACTCTGAATAATTCCTAATTTGGTATGCCATAATGGCTTCCATGGCTGCAGGTATAGTTCTATTATAGGTCATGGCTGCAGGTATAGTTCTATTATAGGTCATGGCTGCAGGTATAGTTCTATTATAGGTGGTTTAAAGGTTGAATGGGCGCTGCAGCACCCCAGTGGGTTCCTGAAGAATGTGTTTAACTACAGTTGTGTAAACCAAGTAGTTGAGATTTTGCTTCCAGCTTTCACTGTGTCAGGG... |
Task1_train_2969 | This variant affects gene RYR2 (ryanodine receptor 2) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Cardiovascular phenotype | CTAAACCATCTTGTATTTTCCCTATATTGTTTAATACAGAGTTCACTGAACAGAAATGTTTCCTAGATAACTAACTCTGAATAATTCCTAATTTGGTATGCCATAATGGCTTCCATGGCTGCAGGTATAGTTCTATTATAGGTCATGGCTGCAGGTATAGTTCTATTATAGGTCATGGCTGCAGGTATAGTTCTATTATAGGTGGTTTAAAGGTTGAATGGGCGCTGCAGCACCCCAGTGGGTTCCTGAAGAATGTGTTTAACTACAGTTGTGTAAACCAAGTAGTTGAGATTTTGCTTCCAGCTTTCACTGTGTCAGGG... | CTAAACCATCTTGTATTTTCCCTATATTGTTTAATACAGAGTTCACTGAACAGAAATGTTTCCTAGATAACTAACTCTGAATAATTCCTAATTTGGTATGCCATAATGGCTTCCATGGCTGCAGGTATAGTTCTATTATAGGTCATGGCTGCAGGTATAGTTCTATTATAGGTCATGGCTGCAGGTATAGTTCTATTATAGGTGGTTTAAAGGTTGAATGGGCGCTGCAGCACCCCAGTGGGTTCCTGAAGAATGTGTTTAACTACAGTTGTGTAAACCAAGTAGTTGAGATTTTGCTTCCAGCTTTCACTGTGTCAGGG... |
Task1_train_2970 | The gene RYR2 (ryanodine receptor 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | AATTGAGAAGAGAGCTTAGCCATCTAATTTTTTAGCATGCATTGGAATCCTCAGAATTTTTGGTTGAATAAGAATGAATTTTAAAAGTATGTTCATTACTTGCCTTTGGTTTTTGAAAAGCTATCGTTTTTAGCCTTTGCTATTAGTCCTTTCATTATGCAGTGACTTCACATCCAACTATTTGCTGAAAAGGCTGTATTTCTTTTGTCTTTTGCTTGCAATGGTATCTTAGATGCAGCAAACTGACTCTACTTTAAATGCTTTGAATCAGGTCTCCACTTCTTCTGTGGTTGAAGGAAAGGAGCTCCCCACGAGAAGTT... | AATTGAGAAGAGAGCTTAGCCATCTAATTTTTTAGCATGCATTGGAATCCTCAGAATTTTTGGTTGAATAAGAATGAATTTTAAAAGTATGTTCATTACTTGCCTTTGGTTTTTGAAAAGCTATCGTTTTTAGCCTTTGCTATTAGTCCTTTCATTATGCAGTGACTTCACATCCAACTATTTGCTGAAAAGGCTGTATTTCTTTTGTCTTTTGCTTGCAATGGTATCTTAGATGCAGCAAACTGACTCTACTTTAAATGCTTTGAATCAGGTCTCCACTTCTTCTGTGGTTGAAGGAAAGGAGCTCCCCACGAGAAGTT... |
Task1_train_2971 | A mutation found in RYR2 (ryanodine receptor 2) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | GCATTGGAATCCTCAGAATTTTTGGTTGAATAAGAATGAATTTTAAAAGTATGTTCATTACTTGCCTTTGGTTTTTGAAAAGCTATCGTTTTTAGCCTTTGCTATTAGTCCTTTCATTATGCAGTGACTTCACATCCAACTATTTGCTGAAAAGGCTGTATTTCTTTTGTCTTTTGCTTGCAATGGTATCTTAGATGCAGCAAACTGACTCTACTTTAAATGCTTTGAATCAGGTCTCCACTTCTTCTGTGGTTGAAGGAAAGGAGCTCCCCACGAGAAGTTCAAGTGAAAATGCCAAAGTGACAAGCCTGGACAGCAGC... | GCATTGGAATCCTCAGAATTTTTGGTTGAATAAGAATGAATTTTAAAAGTATGTTCATTACTTGCCTTTGGTTTTTGAAAAGCTATCGTTTTTAGCCTTTGCTATTAGTCCTTTCATTATGCAGTGACTTCACATCCAACTATTTGCTGAAAAGGCTGTATTTCTTTTGTCTTTTGCTTGCAATGGTATCTTAGATGCAGCAAACTGACTCTACTTTAAATGCTTTGAATCAGGTCTCCACTTCTTCTGTGGTTGAAGGAAAGGAGCTCCCCACGAGAAGTTCAAGTGAAAATGCCAAAGTGACAAGCCTGGACAGCAGC... |
Task1_train_2972 | Here is a variant affecting RYR2 (ryanodine receptor 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Arrhythmogenic right ventricular cardiomyopathy | TGTTAGAAGCAATGTGTTCGATTTTTATGTGGAGGAGGTACAAGTGTTTTGTTCCCTCGTGACCTGGCATCTTGAGTCGCACTGCGCTAGTGCATCTGAGGACACCCAAATTAGGCAAAAGCTGTGAAAGAATAATTTTAAAATGGTTTTAAATAGATAATTTGAACATTTTATTCCTATTATTTAATGGAATAAGGAAGAAGCTTCTAAATTATTAAAGCAAGAGTTTCTTGCTTTAATGAAGAAAACTCTATATCTGTAGTCAAATAAATAGGTAAACCATAATGGCAGCTAATCCTGTTCCTGGATTTCCCGCTATG... | TGTTAGAAGCAATGTGTTCGATTTTTATGTGGAGGAGGTACAAGTGTTTTGTTCCCTCGTGACCTGGCATCTTGAGTCGCACTGCGCTAGTGCATCTGAGGACACCCAAATTAGGCAAAAGCTGTGAAAGAATAATTTTAAAATGGTTTTAAATAGATAATTTGAACATTTTATTCCTATTATTTAATGGAATAAGGAAGAAGCTTCTAAATTATTAAAGCAAGAGTTTCTTGCTTTAATGAAGAAAACTCTATATCTGTAGTCAAATAAATAGGTAAACCATAATGGCAGCTAATCCTGTTCCTGGATTTCCCGCTATG... |
Task1_train_2973 | A variant has been detected on Chromosome 1 in RYR2 (ryanodine receptor 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | AATGTCCTTGAACTTGCCCTCAAGCCTCTCCAACACTGCCACACTTTTCCAACTTGGTCTTGCAAAACAGGAACCCACCACTCAAACCAAATTTTCCTTCCCAAGCAAACTCTGTTTAGTCTTACCTCAGTGTGCTTTTTAAAAATGCTGTTTTCTTTTCTGCCACTTGACCTCTAGCTTCAGTTCCACATGGTCCTTGAAATCCCTTTACTAGCTCAGCCCCCTCTTTTTATTCTCTGTGAAAGATTAAGATATCTTACAGTCAAAATGAAGGTGTCCGCCGCTTCCCCAAATGGGTGGTTTCTGACTCCACTAGCAAA... | AATGTCCTTGAACTTGCCCTCAAGCCTCTCCAACACTGCCACACTTTTCCAACTTGGTCTTGCAAAACAGGAACCCACCACTCAAACCAAATTTTCCTTCCCAAGCAAACTCTGTTTAGTCTTACCTCAGTGTGCTTTTTAAAAATGCTGTTTTCTTTTCTGCCACTTGACCTCTAGCTTCAGTTCCACATGGTCCTTGAAATCCCTTTACTAGCTCAGCCCCCTCTTTTTATTCTCTGTGAAAGATTAAGATATCTTACAGTCAAAATGAAGGTGTCCGCCGCTTCCCCAAATGGGTGGTTTCTGACTCCACTAGCAAA... |
Task1_train_2974 | Given this variant in gene RYR2 (ryanodine receptor 2) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | ACCTGTTCTTAATGTTAAGACTTCCCATTATCCTGAAGCATATTGCAGAAGTGTGCACTGATCCGTTCACTTGCTATTTTTCAAGTGTCCACTGGGTGGCGACATATTCTGTGTTAGTTATTTGGCTTAACAGACTCCTTCATTTCCAGAGTCTTGTAGCCCAGCACATTTTAAAATAATTGCCTCTCTAAAAGCTTTGAACTGGGTCCACAGTTAAGTCCACATTATCATCAGTTTTCTAAATTTCAGCATGATTCTTACATATGTCACTTTAGGTTCTGAGTATGACTGTGACGTGCACGGCAAGTCATGGGTCTAGC... | ACCTGTTCTTAATGTTAAGACTTCCCATTATCCTGAAGCATATTGCAGAAGTGTGCACTGATCCGTTCACTTGCTATTTTTCAAGTGTCCACTGGGTGGCGACATATTCTGTGTTAGTTATTTGGCTTAACAGACTCCTTCATTTCCAGAGTCTTGTAGCCCAGCACATTTTAAAATAATTGCCTCTCTAAAAGCTTTGAACTGGGTCCACAGTTAAGTCCACATTATCATCAGTTTTCTAAATTTCAGCATGATTCTTACATATGTCACTTTAGGTTCTGAGTATGACTGTGACGTGCACGGCAAGTCATGGGTCTAGC... |
Task1_train_2975 | This alteration occurs within gene RYR2 (ryanodine receptor 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Cardiovascular phenotype | ACCTGTTCTTAATGTTAAGACTTCCCATTATCCTGAAGCATATTGCAGAAGTGTGCACTGATCCGTTCACTTGCTATTTTTCAAGTGTCCACTGGGTGGCGACATATTCTGTGTTAGTTATTTGGCTTAACAGACTCCTTCATTTCCAGAGTCTTGTAGCCCAGCACATTTTAAAATAATTGCCTCTCTAAAAGCTTTGAACTGGGTCCACAGTTAAGTCCACATTATCATCAGTTTTCTAAATTTCAGCATGATTCTTACATATGTCACTTTAGGTTCTGAGTATGACTGTGACGTGCACGGCAAGTCATGGGTCTAGC... | ACCTGTTCTTAATGTTAAGACTTCCCATTATCCTGAAGCATATTGCAGAAGTGTGCACTGATCCGTTCACTTGCTATTTTTCAAGTGTCCACTGGGTGGCGACATATTCTGTGTTAGTTATTTGGCTTAACAGACTCCTTCATTTCCAGAGTCTTGTAGCCCAGCACATTTTAAAATAATTGCCTCTCTAAAAGCTTTGAACTGGGTCCACAGTTAAGTCCACATTATCATCAGTTTTCTAAATTTCAGCATGATTCTTACATATGTCACTTTAGGTTCTGAGTATGACTGTGACGTGCACGGCAAGTCATGGGTCTAGC... |
Task1_train_2976 | This alteration in RYR2 (ryanodine receptor 2) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | CAACCATACGACCCTGAATGTGCCCAATCTCATCCTTGTATGCCAGGCTGATAAAACGTTTCCAAATGACACATTTAATTCTGTTCCCTAAATTCCAGCCATCTAACCCAGGAGACTTTTTCTCCTCTGCATCTAACAGATCCATCAGCTGTTGAACTCATAGTTGAACTATGAGCATTTTGATATCACCTTGTTGACTGCTCTTTGCCTACACATTGTGCTTTTTAAAGTGTCCTGAGAATGTGAGATCTGTGGGTTGAGGCAGTGAAGGCTCCTCATTCATCCCACAAATGATTTGAGGACTTACCATGTGCTGGACG... | CAACCATACGACCCTGAATGTGCCCAATCTCATCCTTGTATGCCAGGCTGATAAAACGTTTCCAAATGACACATTTAATTCTGTTCCCTAAATTCCAGCCATCTAACCCAGGAGACTTTTTCTCCTCTGCATCTAACAGATCCATCAGCTGTTGAACTCATAGTTGAACTATGAGCATTTTGATATCACCTTGTTGACTGCTCTTTGCCTACACATTGTGCTTTTTAAAGTGTCCTGAGAATGTGAGATCTGTGGGTTGAGGCAGTGAAGGCTCCTCATTCATCCCACAAATGATTTGAGGACTTACCATGTGCTGGACG... |
Task1_train_2977 | This gene mutation involves RYR2 (ryanodine receptor 2) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | ACGACCCTGAATGTGCCCAATCTCATCCTTGTATGCCAGGCTGATAAAACGTTTCCAAATGACACATTTAATTCTGTTCCCTAAATTCCAGCCATCTAACCCAGGAGACTTTTTCTCCTCTGCATCTAACAGATCCATCAGCTGTTGAACTCATAGTTGAACTATGAGCATTTTGATATCACCTTGTTGACTGCTCTTTGCCTACACATTGTGCTTTTTAAAGTGTCCTGAGAATGTGAGATCTGTGGGTTGAGGCAGTGAAGGCTCCTCATTCATCCCACAAATGATTTGAGGACTTACCATGTGCTGGACGTTATTTT... | ACGACCCTGAATGTGCCCAATCTCATCCTTGTATGCCAGGCTGATAAAACGTTTCCAAATGACACATTTAATTCTGTTCCCTAAATTCCAGCCATCTAACCCAGGAGACTTTTTCTCCTCTGCATCTAACAGATCCATCAGCTGTTGAACTCATAGTTGAACTATGAGCATTTTGATATCACCTTGTTGACTGCTCTTTGCCTACACATTGTGCTTTTTAAAGTGTCCTGAGAATGTGAGATCTGTGGGTTGAGGCAGTGAAGGCTCCTCATTCATCCCACAAATGATTTGAGGACTTACCATGTGCTGGACGTTATTTT... |
Task1_train_2978 | A genetic alteration is present in RYR2 (ryanodine receptor 2) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | CCCTGAATGTGCCCAATCTCATCCTTGTATGCCAGGCTGATAAAACGTTTCCAAATGACACATTTAATTCTGTTCCCTAAATTCCAGCCATCTAACCCAGGAGACTTTTTCTCCTCTGCATCTAACAGATCCATCAGCTGTTGAACTCATAGTTGAACTATGAGCATTTTGATATCACCTTGTTGACTGCTCTTTGCCTACACATTGTGCTTTTTAAAGTGTCCTGAGAATGTGAGATCTGTGGGTTGAGGCAGTGAAGGCTCCTCATTCATCCCACAAATGATTTGAGGACTTACCATGTGCTGGACGTTATTTTAGGC... | CCCTGAATGTGCCCAATCTCATCCTTGTATGCCAGGCTGATAAAACGTTTCCAAATGACACATTTAATTCTGTTCCCTAAATTCCAGCCATCTAACCCAGGAGACTTTTTCTCCTCTGCATCTAACAGATCCATCAGCTGTTGAACTCATAGTTGAACTATGAGCATTTTGATATCACCTTGTTGACTGCTCTTTGCCTACACATTGTGCTTTTTAAAGTGTCCTGAGAATGTGAGATCTGTGGGTTGAGGCAGTGAAGGCTCCTCATTCATCCCACAAATGATTTGAGGACTTACCATGTGCTGGACGTTATTTTAGGC... |
Task1_train_2979 | Given this context: Chromosome 1, gene RYR2 (ryanodine receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia | AGGATGATTTCATGTCCTTTGCAGGGACGTGGATGAAGCTGGAAACCATCATTCTCAGCAAACTAACACAAGAACAGAAAACCAAACGCCACATGTTCTCACTCATAAGTGGGAGTTAAACAATGGTAACACATTGGGGGGCATCACACACCAGAGCCTGTTGAGGGGTTGGGATAGCATTAGGAAAAATACCTAATGTAGATGACAAGTTGATGGGTACAGCAAAAACCACCATAGCACGTGTATACCTGTGTAACAAACCTGCACGTTCTGCACGTGTACCCCAGAACTTAAAGTATAATAAAAAAAGGACATACATT... | AGGATGATTTCATGTCCTTTGCAGGGACGTGGATGAAGCTGGAAACCATCATTCTCAGCAAACTAACACAAGAACAGAAAACCAAACGCCACATGTTCTCACTCATAAGTGGGAGTTAAACAATGGTAACACATTGGGGGGCATCACACACCAGAGCCTGTTGAGGGGTTGGGATAGCATTAGGAAAAATACCTAATGTAGATGACAAGTTGATGGGTACAGCAAAAACCACCATAGCACGTGTATACCTGTGTAACAAACCTGCACGTTCTGCACGTGTACCCCAGAACTTAAAGTATAATAAAAAAAGGACATACATT... |
Task1_train_2980 | A genetic alteration is present in RYR2 (ryanodine receptor 2) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | CTGGAAACCATCATTCTCAGCAAACTAACACAAGAACAGAAAACCAAACGCCACATGTTCTCACTCATAAGTGGGAGTTAAACAATGGTAACACATTGGGGGGCATCACACACCAGAGCCTGTTGAGGGGTTGGGATAGCATTAGGAAAAATACCTAATGTAGATGACAAGTTGATGGGTACAGCAAAAACCACCATAGCACGTGTATACCTGTGTAACAAACCTGCACGTTCTGCACGTGTACCCCAGAACTTAAAGTATAATAAAAAAAGGACATACATTCAAGTACCCAGTCTAATACCTGATGCATAGTCAGTGCT... | CTGGAAACCATCATTCTCAGCAAACTAACACAAGAACAGAAAACCAAACGCCACATGTTCTCACTCATAAGTGGGAGTTAAACAATGGTAACACATTGGGGGGCATCACACACCAGAGCCTGTTGAGGGGTTGGGATAGCATTAGGAAAAATACCTAATGTAGATGACAAGTTGATGGGTACAGCAAAAACCACCATAGCACGTGTATACCTGTGTAACAAACCTGCACGTTCTGCACGTGTACCCCAGAACTTAAAGTATAATAAAAAAAGGACATACATTCAAGTACCCAGTCTAATACCTGATGCATAGTCAGTGCT... |
Task1_train_2981 | Located on Chromosome 1, this mutation impacts RYR2 (ryanodine receptor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GTGGGAAGGAGGAGGGGGAAGGGCACAACTTGTGGTTTCACTGGCGTGTTTTCCATTCAAGCAATACATATAGTTGAGCTGCGTGGTCGGCTGAAATTGTGGTGGACGCCACATGCATGCAAACAGCGATAGGACACCATCCTTTCCCTCCAGAAGTGGAGAGACTATTCATTCGAAACCAAAGATTCAATGACAAGTAAATAGATGATTACAGAGCAGTGTGGTGAGTCCTTTATGGGAGTAAAGCCCTGGAGTGGTAGGGTCTCTAGGGCTGGTATCTGATTCACTCCTGGATGGTCAGGGAATTTCCTAGAAGAAGG... | GTGGGAAGGAGGAGGGGGAAGGGCACAACTTGTGGTTTCACTGGCGTGTTTTCCATTCAAGCAATACATATAGTTGAGCTGCGTGGTCGGCTGAAATTGTGGTGGACGCCACATGCATGCAAACAGCGATAGGACACCATCCTTTCCCTCCAGAAGTGGAGAGACTATTCATTCGAAACCAAAGATTCAATGACAAGTAAATAGATGATTACAGAGCAGTGTGGTGAGTCCTTTATGGGAGTAAAGCCCTGGAGTGGTAGGGTCTCTAGGGCTGGTATCTGATTCACTCCTGGATGGTCAGGGAATTTCCTAGAAGAAGG... |
Task1_train_2982 | This genomic variant is located on Chromosome 1, within the RYR2 (ryanodine receptor 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | AGGAGGAGGGGGAAGGGCACAACTTGTGGTTTCACTGGCGTGTTTTCCATTCAAGCAATACATATAGTTGAGCTGCGTGGTCGGCTGAAATTGTGGTGGACGCCACATGCATGCAAACAGCGATAGGACACCATCCTTTCCCTCCAGAAGTGGAGAGACTATTCATTCGAAACCAAAGATTCAATGACAAGTAAATAGATGATTACAGAGCAGTGTGGTGAGTCCTTTATGGGAGTAAAGCCCTGGAGTGGTAGGGTCTCTAGGGCTGGTATCTGATTCACTCCTGGATGGTCAGGGAATTTCCTAGAAGAAGGGATGTC... | AGGAGGAGGGGGAAGGGCACAACTTGTGGTTTCACTGGCGTGTTTTCCATTCAAGCAATACATATAGTTGAGCTGCGTGGTCGGCTGAAATTGTGGTGGACGCCACATGCATGCAAACAGCGATAGGACACCATCCTTTCCCTCCAGAAGTGGAGAGACTATTCATTCGAAACCAAAGATTCAATGACAAGTAAATAGATGATTACAGAGCAGTGTGGTGAGTCCTTTATGGGAGTAAAGCCCTGGAGTGGTAGGGTCTCTAGGGCTGGTATCTGATTCACTCCTGGATGGTCAGGGAATTTCCTAGAAGAAGGGATGTC... |
Task1_train_2983 | A sequence alteration has been identified in RYR2 (ryanodine receptor 2) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1 | TGATTACTTCGACACAGTGCCACATGGCTTTGAAACCCACACTTTACAGGAGCACAACTTGGCTAATTACTTGTGAGTGTGCCCGTTTCAGAATCTTCCACCTCTCCAGTAGACGCCACTGGTCCCTGCCCATCTCAGAATAGAGAGGAAGTTTTTGTTTATTGTTTAAAAAATAATTGCTGCAGATACTTTAAAAGAAAGTCCAACAGCTAATGGCTCTCTTTTCCTCTGGAGTAGGTTGACTTAAGAGGTTAAGTTGCAGCTCTTCATGTAAGTGATGCTTTCTAGAACTTGAAATGAAGAGGTGGACAGGGAGGAGC... | TGATTACTTCGACACAGTGCCACATGGCTTTGAAACCCACACTTTACAGGAGCACAACTTGGCTAATTACTTGTGAGTGTGCCCGTTTCAGAATCTTCCACCTCTCCAGTAGACGCCACTGGTCCCTGCCCATCTCAGAATAGAGAGGAAGTTTTTGTTTATTGTTTAAAAAATAATTGCTGCAGATACTTTAAAAGAAAGTCCAACAGCTAATGGCTCTCTTTTCCTCTGGAGTAGGTTGACTTAAGAGGTTAAGTTGCAGCTCTTCATGTAAGTGATGCTTTCTAGAACTTGAAATGAAGAGGTGGACAGGGAGGAGC... |
Task1_train_2984 | An alteration has been detected in CHRM3 (cholinergic receptor muscarinic 3) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Prune belly syndrome | CACACAGTAAATGTCCAATAAATAATTTCTACTAACATTTATTATTGCACTAAATTTAGCTCTGAGCATCCTGGCAGCCAAAGCAAAGAGAGCTCATTGTTCAATAAAAAGAATAAGATAATAATCACAGATACTCATATAGCATTTACTGTATCAGCTCCTGTTCTAAGTACTTTATATATGTTAAAACATTTTGATGAGAAACGAAGCTTCTTTGGCCACTTATTGAATTCTGGAAAGAATTGATCAACAATTGATTCTGTTATACAGAAAATTATCATTCCCATTTTTCAATGAGAAAACTTGGACTCAAAGAAGTT... | CACACAGTAAATGTCCAATAAATAATTTCTACTAACATTTATTATTGCACTAAATTTAGCTCTGAGCATCCTGGCAGCCAAAGCAAAGAGAGCTCATTGTTCAATAAAAAGAATAAGATAATAATCACAGATACTCATATAGCATTTACTGTATCAGCTCCTGTTCTAAGTACTTTATATATGTTAAAACATTTTGATGAGAAACGAAGCTTCTTTGGCCACTTATTGAATTCTGGAAAGAATTGATCAACAATTGATTCTGTTATACAGAAAATTATCATTCCCATTTTTCAATGAGAAAACTTGGACTCAAAGAAGTT... |
Task1_train_2985 | A variant was discovered on Chromosome 1, affecting GREM2 (gremlin 2, DAN family BMP antagonist). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Tooth agenesis, selective, 9 | AGGATTTCTTTTGATTTCTGCCTCCTGAGTTCAGGCTGTATATACCCATTTATGAAACCAAGACCCCCTCTGCCACAGCACATTCTTGCTCAGGTCTCATGGTGTTGCAGAAATGACAGAAATGCACCTTGCAGTGCAGTGGCCTGAGATAGATTCACCAACCCACCCCACCCCAATCCTTGCTCTTCAAGTGAATGTCTCTAGATCCACCATCACTACCTAGTATCAGGAAGCTAAGTCCCCACAGCGGCTTGCAGAGGGTCTCTCTCACATACTAGGGAAGTGGCCCCTCACAGGAGCACTTACCAGGGAATCATCAG... | AGGATTTCTTTTGATTTCTGCCTCCTGAGTTCAGGCTGTATATACCCATTTATGAAACCAAGACCCCCTCTGCCACAGCACATTCTTGCTCAGGTCTCATGGTGTTGCAGAAATGACAGAAATGCACCTTGCAGTGCAGTGGCCTGAGATAGATTCACCAACCCACCCCACCCCAATCCTTGCTCTTCAAGTGAATGTCTCTAGATCCACCATCACTACCTAGTATCAGGAAGCTAAGTCCCCACAGCGGCTTGCAGAGGGTCTCTCTCACATACTAGGGAAGTGGCCCCTCACAGGAGCACTTACCAGGGAATCATCAG... |
Task1_train_2986 | Here is a genetic alteration in GREM2 (gremlin 2, DAN family BMP antagonist) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Tooth agenesis, selective, 9 | TTTGTCAGATTCCATAAGCATTACTCACAGGGAAGCCTTCCTGGGGCAACTGAGCAAAGGAGCCCAGAAGAAGTATATAATTTCGCTGGAAAATAAGTTACGTCTACTTCCGTATATCAAGAGACCACAGCATGGAAACGTCAACAATTCATTATAAACACAAAAGGTGACCTAATGTTTGTTCGTCCCTTTTGAAGTCTATTCTTTGAAAAGGAAGCATGTTTTGTGCAGAACAGTTCAACTAGATTACTATTCTATATCTTTTATTCCTTACTCCCTTCTATACCACAAAGCGACTCAACTCCTTATATTTTTCAATA... | TTTGTCAGATTCCATAAGCATTACTCACAGGGAAGCCTTCCTGGGGCAACTGAGCAAAGGAGCCCAGAAGAAGTATATAATTTCGCTGGAAAATAAGTTACGTCTACTTCCGTATATCAAGAGACCACAGCATGGAAACGTCAACAATTCATTATAAACACAAAAGGTGACCTAATGTTTGTTCGTCCCTTTTGAAGTCTATTCTTTGAAAAGGAAGCATGTTTTGTGCAGAACAGTTCAACTAGATTACTATTCTATATCTTTTATTCCTTACTCCCTTCTATACCACAAAGCGACTCAACTCCTTATATTTTTCAATA... |
Task1_train_2987 | A genetic alteration is present in FH (fumarate hydratase) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TCACACAAAGATGACTGCCAACTCAAAGGATTCCATGATGCCCTATAATATGCTGGGATACATCAGACAGCTGTGCAAAGACTGTCTGAGGCTAGGAACTTGATCTGCCATAATCTTTATTACATAAGTCACTGTGTCTCTCGTGACCCTCAAATGACAGCCTATTTAGACTGAGAATGCCTGCTAAGGCAAAACATTCAGCATCATAGTGGATAAACTGTTTCACAACTACAGATCAGTTGCCAGTTTGGTTGTCGGGGTCCAGGCATAGCTATGCAGTCTAATTGATTTTATTTTCCAATAAAAATCTTTTTCTAAAA... | TCACACAAAGATGACTGCCAACTCAAAGGATTCCATGATGCCCTATAATATGCTGGGATACATCAGACAGCTGTGCAAAGACTGTCTGAGGCTAGGAACTTGATCTGCCATAATCTTTATTACATAAGTCACTGTGTCTCTCGTGACCCTCAAATGACAGCCTATTTAGACTGAGAATGCCTGCTAAGGCAAAACATTCAGCATCATAGTGGATAAACTGTTTCACAACTACAGATCAGTTGCCAGTTTGGTTGTCGGGGTCCAGGCATAGCTATGCAGTCTAATTGATTTTATTTTCCAATAAAAATCTTTTTCTAAAA... |
Task1_train_2988 | This variant lies on Chromosome 1 and affects the gene FH (fumarate hydratase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Fumarase deficiency | GAGAGGGGAGAAGTCCTCGCAGTGAGGCAGGCGCAGGCAGGGCCTGGGGAGGGGTGCCTCCAGAGCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATAT... | GAGAGGGGAGAAGTCCTCGCAGTGAGGCAGGCGCAGGCAGGGCCTGGGGAGGGGTGCCTCCAGAGCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATAT... |
Task1_train_2989 | This variant impacts the gene FH (fumarate hydratase) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary cancer-predisposing syndrome | TCCAGAGCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAG... | TCCAGAGCTGCTTCCAATGGCTCTTCTCTATGTGGCTCTCCACTGCAATGGCTTCTATACCCTGGCCTCCTCCCAGACATTACAGGGACACAAATAGGGAGTCTGGGCAGAAATACAGACTGCACAAAAGATCACAGGCATACTGTTTACTTCAGAGTTATTTGCTTTTCAAATTAATAAAAGTGGGGGCAGGGCAGTTCTGCAAGCTGTCTTAACATATATATATATATATATATATATATATATATATATATATATATATATGTCAAGAAGAAAAAGCAGGAATGAAAATGAAACCAATGCGGGAGAAAAAAAACAAG... |
Task1_train_2990 | A sequence alteration has been identified in FH (fumarate hydratase) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; not provided | ACCTATATGAGGATTGAGAGCTGTCACCAACATTAGAGACTCATTCATCAGCTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAA... | ACCTATATGAGGATTGAGAGCTGTCACCAACATTAGAGACTCATTCATCAGCTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAA... |
Task1_train_2991 | A variant on Chromosome 1 in gene FH (fumarate hydratase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GCTGTCACCAACATTAGAGACTCATTCATCAGCTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAAGGAAACAAATGTGAAAGAA... | GCTGTCACCAACATTAGAGACTCATTCATCAGCTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTGTAAAGGAAACTGAAGCATCCCCCAGCAGCCTGGCTGAGTGTAACACATTTTTAATCTTTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACATTACTAAGGCAACATGTTTTTTGTCCAATAACATATTATTTTCTGGTTGACAGTAAATATACAATTCAATAAACATATAGATCTTCTACAAATTTTAAGGCACTATAACCAAGGAAACAAATGTGAAAGAA... |
Task1_train_2992 | This genomic variant is located on Chromosome 1, within the FH (fumarate hydratase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | ATCAACTATTAGTAAGGGAAGAACTAACTGCGCAATGCCAGCTGGACTGAGGTAGTCACCAATGAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTT... | ATCAACTATTAGTAAGGGAAGAACTAACTGCGCAATGCCAGCTGGACTGAGGTAGTCACCAATGAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTT... |
Task1_train_2993 | This variant impacts the gene FH (fumarate hydratase) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary cancer-predisposing syndrome | TAAGGGAAGAACTAACTGCGCAATGCCAGCTGGACTGAGGTAGTCACCAATGAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTG... | TAAGGGAAGAACTAACTGCGCAATGCCAGCTGGACTGAGGTAGTCACCAATGAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTG... |
Task1_train_2994 | With a mutation on Chromosome 1 in gene FH (fumarate hydratase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary leiomyomatosis and renal cell cancer | TAAGGGAAGAACTAACTGCGCAATGCCAGCTGGACTGAGGTAGTCACCAATGAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTG... | TAAGGGAAGAACTAACTGCGCAATGCCAGCTGGACTGAGGTAGTCACCAATGAATGGGAGAATAATTCAAGCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTG... |
Task1_train_2995 | A variant has been detected on Chromosome 1 in FH (fumarate hydratase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary cancer-predisposing syndrome | GCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAAT... | GCGTGGAGGGGGCCATGCTGGGCTGTGGTGACTACAGCATAAATGAAAGTGAGTATGTGCTATCCTTCCAAGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAAT... |
Task1_train_2996 | A variant on Chromosome 1 in gene FH (fumarate hydratase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | AGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAATAAGCCTTTGGTCAAAAAACATTAAAAATCAGATTTAAAGCTTACCATCATTGGCTTGAAAACATTCAACT... | AGAAGACTGAATTTGAAGAAGAAAGCAGCAGCATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAATAAGCCTTTGGTCAAAAAACATTAAAAATCAGATTTAAAGCTTACCATCATTGGCTTGAAAACATTCAACT... |
Task1_train_2997 | Chromosome 1 houses a mutation in gene FH (fumarate hydratase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAATAAGCCTTTGGTCAAAAAACATTAAAAATCAGATTTAAAGCTTACCATCATTGGCTTGAAAACATTCAACTCAAAATGTCCATTGCTGCCTCCGACAGTGAC... | CATGAGAAGGAGACAGGCTTGTAGGGAGGCATTTTATTTTTCTTAAACGGGCTATTAAAAAAAACATCAAATTGCTTAGGTTAAAAGTCAACTAATTTCTATTATCTAGGATTATTCTGGTAACTTAATAAATGCTTGACTTCCAACTGCTACTTATGTCACCCAACTACCCAATGTGGAATCACTAGAAGTCTTTATGAAATACAAAACCAAGATAATAAGCCTTTGGTCAAAAAACATTAAAAATCAGATTTAAAGCTTACCATCATTGGCTTGAAAACATTCAACTCAAAATGTCCATTGCTGCCTCCGACAGTGAC... |
Task1_train_2998 | A mutation found in FH (fumarate hydratase) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | GATTACCTGGCATGATACTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTAC... | GATTACCTGGCATGATACTGCTTCCTGGTTCATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTAC... |
Task1_train_2999 | Located on Chromosome 1, this mutation impacts FH (fumarate hydratase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Fumarase deficiency | CATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTACTTCAGAAAAAAATGTTTACTTAAGACTCAA... | CATTTTCAGGCAAGATCAATTCTCCCAGACCTGACCGAGGACCAGAACCCAAAAATCGAATATCATTTGCTATCTTCATCAGACTGCAGGCAGTAGTGTTCATGGCTCCACTGAGCTCAACCAGAGCGTCATGAGCAGCCAGAGCTTCAAATTTATTCGGAGCAGTGACAAAAGGCAAGCCTAAAGAAAAGAAAAATATCCTAGATGGGTGAACAAGTTAAACTAAACATTTTTCTACCATTAGCAAGTGAAACAGAAAGTTCCAATATACGAAAAAATAAAAATTTTACTTCAGAAAAAAATGTTTACTTAAGACTCAA... |
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