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_9800 | Here is a genetic alteration in GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | CATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAATCTTCTCTGCATGAGGCTTGTAGGGCACCTTATTTTCAAATCAGATCAAATCAGCCAAGTAAGTAGGGAAACG... | CATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAATCTTCTCTGCATGAGGCTTGTAGGGCACCTTATTTTCAAATCAGATCAAATCAGCCAAGTAAGTAGGGAAACG... |
Task1_train_9801 | A variant found in Chromosome 5 affects GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Febrile seizures, familial, 8 | CATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAATCTTCTCTGCATGAGGCTTGTAGGGCACCTTATTTTCAAATCAGATCAAATCAGCCAAGTAAGTAGGGAAACG... | CATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAATCTTCTCTGCATGAGGCTTGTAGGGCACCTTATTTTCAAATCAGATCAAATCAGCCAAGTAAGTAGGGAAACG... |
Task1_train_9802 | Mutation context: Chromosome 5, Gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Febrile seizures, familial, 8 | CTAAGCATGTTCTACCAGTTACCTACTTATGAGAGAATAAGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGAC... | CTAAGCATGTTCTACCAGTTACCTACTTATGAGAGAATAAGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGAC... |
Task1_train_9803 | Here is a variant affecting GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | CTACCAGTTACCTACTTATGAGAGAATAAGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTAC... | CTACCAGTTACCTACTTATGAGAGAATAAGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTAC... |
Task1_train_9804 | The gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Febrile seizures, familial, 8 | CTACCAGTTACCTACTTATGAGAGAATAAGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTAC... | CTACCAGTTACCTACTTATGAGAGAATAAGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTAC... |
Task1_train_9805 | A variant affecting Chromosome 5, within the gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Developmental and epileptic encephalopathy, 74 | AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGC... | AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGC... |
Task1_train_9806 | A variant affecting Chromosome 5, within the gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Inborn genetic diseases | AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGC... | AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGC... |
Task1_train_9807 | An alteration has been detected in GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 | AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGC... | AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGC... |
Task1_train_9808 | Given this variant in gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Febrile seizures, familial, 8 | AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGC... | AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGC... |
Task1_train_9809 | This gene mutation involves GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; Febrile seizures, familial, 8 | TTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCA... | TTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCA... |
Task1_train_9810 | Given a variant located on Chromosome 5 and affecting RARS1 (arginyl-tRNA synthetase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hypomyelinating leukodystrophy 9 | AATAATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTA... | AATAATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTA... |
Task1_train_9811 | The gene RARS1 (arginyl-tRNA synthetase 1) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | ATAATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAA... | ATAATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAA... |
Task1_train_9812 | Given this variant in gene RARS1 (arginyl-tRNA synthetase 1) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TAATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAAG... | TAATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAAG... |
Task1_train_9813 | This variant impacts the gene RARS1 (arginyl-tRNA synthetase 1) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hypomyelinating leukodystrophy 9 | ATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAAGTC... | ATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAAGTC... |
Task1_train_9814 | This mutation occurs in DOCK2 (dedicator of cytokinesis 2) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; DOCK2 deficiency | CTTTTCATGATGCTGTACCATCCAGATCTTCCTTCTTTTAGTCCTCCCCTATGGTCTTTTTGTCCTCTCCCTATCTCGACTCAGATTTTCTCAGTGTTATGTCAAAATAAACACAAGAAACATCTGCATTAGGGAATCAGTGCCCAACAAAGTTTTTAAGTGTTAACCCCTTGTGTCATGGATATTTGCATTTTTAAAGAGGTTACTGAGAGACAACTGTGGCTTAATCAAGTGCTTCCCCAGAGAGTACCCTAGAATGCTAGCTCTCAGAAAAGATGTTTCATGACAAATATATACTTTGATTAATTAATTTAGGGAAG... | CTTTTCATGATGCTGTACCATCCAGATCTTCCTTCTTTTAGTCCTCCCCTATGGTCTTTTTGTCCTCTCCCTATCTCGACTCAGATTTTCTCAGTGTTATGTCAAAATAAACACAAGAAACATCTGCATTAGGGAATCAGTGCCCAACAAAGTTTTTAAGTGTTAACCCCTTGTGTCATGGATATTTGCATTTTTAAAGAGGTTACTGAGAGACAACTGTGGCTTAATCAAGTGCTTCCCCAGAGAGTACCCTAGAATGCTAGCTCTCAGAAAAGATGTTTCATGACAAATATATACTTTGATTAATTAATTTAGGGAAG... |
Task1_train_9815 | A variant has been detected on Chromosome 5 in FOXI1 (forkhead box I1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | GAGTGCAGAGGCCGCTGCTGCCCAGCGTGTCGGGGCTTGGGGGGAGCGACCTGGGCTGGCTGCCCATCCCCTCGCAGGAGGAGCTGATGAAGCTGGTGCGGCCACCCTATTCCTACTCGGCTCTCATCGCCATGGCCATCCACGGGGCACCCGACAAGCGCCTCACTCTCAGCCAGATCTACCAGTACGTGGCCGACAACTTCCCCTTCTACAACAAGAGCAAGGCCGGCTGGCAGAACTCCATCCGCCACAACCTGTCGCTCAACGACTGCTTCAAGAAGGTGCCCCGCGACGAGGACGACCCGGGTAAGGAGGCTTTG... | GAGTGCAGAGGCCGCTGCTGCCCAGCGTGTCGGGGCTTGGGGGGAGCGACCTGGGCTGGCTGCCCATCCCCTCGCAGGAGGAGCTGATGAAGCTGGTGCGGCCACCCTATTCCTACTCGGCTCTCATCGCCATGGCCATCCACGGGGCACCCGACAAGCGCCTCACTCTCAGCCAGATCTACCAGTACGTGGCCGACAACTTCCCCTTCTACAACAAGAGCAAGGCCGGCTGGCAGAACTCCATCCGCCACAACCTGTCGCTCAACGACTGCTTCAAGAAGGTGCCCCGCGACGAGGACGACCCGGGTAAGGAGGCTTTG... |
Task1_train_9816 | The gene KCNIP1 (potassium voltage-gated channel interacting protein 1) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Idiopathic generalized epilepsy | GATGGAGTAACTGAGTTTCGGGGAAGATAAGCAGTGTACTCAAGATTGCACAGCTGGTGAGTAGCAAACCAGGATTAGATTCCATAAGGGTCTGAAACAGGTTTTGCCATGCTGGCACCACCATTGTGCAGGGCACTTTTGAATCTTTTCCTTAAAATAGCTGAGACAAGCTGGAATTTTGTAAAAGAACTTCAGTAAATACCGAAGACTATAAAAATAAACTAATTGAAAAAGAGGCAGGAAACATAAAGTTGTGCTTATTAAGCCAGTTTACAAGTGTGCCAGGCCCACAACAGCTGCTCTGTTGCCCTGCCCGACTC... | GATGGAGTAACTGAGTTTCGGGGAAGATAAGCAGTGTACTCAAGATTGCACAGCTGGTGAGTAGCAAACCAGGATTAGATTCCATAAGGGTCTGAAACAGGTTTTGCCATGCTGGCACCACCATTGTGCAGGGCACTTTTGAATCTTTTCCTTAAAATAGCTGAGACAAGCTGGAATTTTGTAAAAGAACTTCAGTAAATACCGAAGACTATAAAAATAAACTAATTGAAAAAGAGGCAGGAAACATAAAGTTGTGCTTATTAAGCCAGTTTACAAGTGTGCCAGGCCCACAACAGCTGCTCTGTTGCCCTGCCCGACTC... |
Task1_train_9817 | Consider this mutation in ERGIC1 (endoplasmic reticulum-golgi intermediate compartment 1) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Arthrogryposis multiplex congenita 2, neurogenic type | AAAGGCACTTAGAAGAGAGTCTAGCACGTAGTAAGTGCTATTTTACTTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTGAGATAGAGTTTTTCTCTGTTGCCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATGTTTTGTGGTTTTAGTAGAGATGGGGTTCGCCATATTGGCCAGGCTGGTCTCGAACTGCTGGCCTCAAGTTATCCGCCCACCTTGGCCTCC... | AAAGGCACTTAGAAGAGAGTCTAGCACGTAGTAAGTGCTATTTTACTTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTGAGATAGAGTTTTTCTCTGTTGCCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATGTTTTGTGGTTTTAGTAGAGATGGGGTTCGCCATATTGGCCAGGCTGGTCTCGAACTGCTGGCCTCAAGTTATCCGCCCACCTTGGCCTCC... |
Task1_train_9818 | The gene NKX2-5 (NK2 homeobox 5) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Atrioventricular septal defect, somatic | CAGCCCTTTCCTCTTCCTTCCCACAGCACAGCCCAGAACCCTGTGATGGTAGACTGCCTGCACTCCACTGCCCTTGTATCCTACTGTGTCCAGTGGTAACACTGGGTATAGACAGTGGTTGTACTTAGAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCA... | CAGCCCTTTCCTCTTCCTTCCCACAGCACAGCCCAGAACCCTGTGATGGTAGACTGCCTGCACTCCACTGCCCTTGTATCCTACTGTGTCCAGTGGTAACACTGGGTATAGACAGTGGTTGTACTTAGAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCA... |
Task1_train_9819 | A mutation found in NKX2-5 (NK2 homeobox 5) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Atrial septal defect 7 | CAGCCCTTTCCTCTTCCTTCCCACAGCACAGCCCAGAACCCTGTGATGGTAGACTGCCTGCACTCCACTGCCCTTGTATCCTACTGTGTCCAGTGGTAACACTGGGTATAGACAGTGGTTGTACTTAGAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCA... | CAGCCCTTTCCTCTTCCTTCCCACAGCACAGCCCAGAACCCTGTGATGGTAGACTGCCTGCACTCCACTGCCCTTGTATCCTACTGTGTCCAGTGGTAACACTGGGTATAGACAGTGGTTGTACTTAGAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCA... |
Task1_train_9820 | A change on Chromosome 5 affects gene NKX2-5 (NK2 homeobox 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Atrial septal defect 7 | GAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTC... | GAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTC... |
Task1_train_9821 | This alteration occurs within gene NKX2-5 (NK2 homeobox 5) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Atrial septal defect 7 | TTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCAC... | TTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCAC... |
Task1_train_9822 | This alteration occurs within gene NKX2-5 (NK2 homeobox 5) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Abnormal cardiovascular system morphology | CTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCAC... | CTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCAC... |
Task1_train_9823 | A sequence alteration has been identified in NKX2-5 (NK2 homeobox 5) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Atrioventricular septal defect, somatic | CCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCA... | CCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCA... |
Task1_train_9824 | The gene NKX2-5 (NK2 homeobox 5), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Atrial septal defect 7 | ATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCA... | ATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCA... |
Task1_train_9825 | Consider this mutation in NKX2-5 (NK2 homeobox 5) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Atrial septal defect 7 | GCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGT... | GCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGT... |
Task1_train_9826 | This variant affects the gene NKX2-5 (NK2 homeobox 5) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Abnormal cardiovascular system morphology | GCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAA... | GCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAA... |
Task1_train_9827 | This sequence variant lies in NKX2-5 (NK2 homeobox 5) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Atrial septal defect 7 | GCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAA... | GCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAA... |
Task1_train_9828 | Gene NKX2-5 (NK2 homeobox 5) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Atrial septal defect 7 | TATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCA... | TATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCA... |
Task1_train_9829 | This alteration occurs within gene NKX2-5 (NK2 homeobox 5) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Atrial septal defect 7 | CTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAG... | CTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAG... |
Task1_train_9830 | This alteration occurs within gene NKX2-5 (NK2 homeobox 5) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Tetralogy of Fallot | TGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGA... | TGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGA... |
Task1_train_9831 | A variant affecting Chromosome 5, within the gene NKX2-5 (NK2 homeobox 5), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital heart disease | TCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCT... | TCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCT... |
Task1_train_9832 | With a mutation on Chromosome 5 in gene NKX2-5 (NK2 homeobox 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Congenital heart disease | GCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCT... | GCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCT... |
Task1_train_9833 | This mutation is located in gene NKX2-5 (NK2 homeobox 5) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ventricular septal defect 3 | TTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAG... | TTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAG... |
Task1_train_9834 | This is a variant in NKX2-5 (NK2 homeobox 5), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Atrial septal defect 7 | GATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGT... | GATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGT... |
Task1_train_9835 | A mutation on Chromosome 5 affecting MSX2 (msh homeobox 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cranium bifidum occultum | CCTGGGGCGAGAGGGAGCTACCCGCCCGGGCCTGATTTTGTTATTTGGAGGAAGTAGGATAAACGCTGTTTTGCCTTATATAATCGCATCCTTCCTCTGGCTGGTTTAAAATTAGGTGGGGGTGGAGGGATGGGGAGTGTTGCATTGGGAGGAAGCCTCATAGCTTCATGGTTTTGATACACATGTGCGATCCCGGTCACCTGGATTTCATAATTCAAATGTAACCCGAAGGACCAGCTGGAATTACCCTGCCCAGGCGCACAGTGCTTCAAAACCCCACGTAGAGCCAGGAGCAAGAGTATATACACGCTAGGAACTTG... | CCTGGGGCGAGAGGGAGCTACCCGCCCGGGCCTGATTTTGTTATTTGGAGGAAGTAGGATAAACGCTGTTTTGCCTTATATAATCGCATCCTTCCTCTGGCTGGTTTAAAATTAGGTGGGGGTGGAGGGATGGGGAGTGTTGCATTGGGAGGAAGCCTCATAGCTTCATGGTTTTGATACACATGTGCGATCCCGGTCACCTGGATTTCATAATTCAAATGTAACCCGAAGGACCAGCTGGAATTACCCTGCCCAGGCGCACAGTGCTTCAAAACCCCACGTAGAGCCAGGAGCAAGAGTATATACACGCTAGGAACTTG... |
Task1_train_9836 | A variant on Chromosome 5 in gene MSX2 (msh homeobox 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Parietal foramina 1 | GCCTTATATAATCGCATCCTTCCTCTGGCTGGTTTAAAATTAGGTGGGGGTGGAGGGATGGGGAGTGTTGCATTGGGAGGAAGCCTCATAGCTTCATGGTTTTGATACACATGTGCGATCCCGGTCACCTGGATTTCATAATTCAAATGTAACCCGAAGGACCAGCTGGAATTACCCTGCCCAGGCGCACAGTGCTTCAAAACCCCACGTAGAGCCAGGAGCAAGAGTATATACACGCTAGGAACTTGGTATCTGAGCTGAGACACCTGAGTCCTCCTGAGGGCCCGGCCTAGTTTAGAAAGGGCGAGAATTTTGCAGGT... | GCCTTATATAATCGCATCCTTCCTCTGGCTGGTTTAAAATTAGGTGGGGGTGGAGGGATGGGGAGTGTTGCATTGGGAGGAAGCCTCATAGCTTCATGGTTTTGATACACATGTGCGATCCCGGTCACCTGGATTTCATAATTCAAATGTAACCCGAAGGACCAGCTGGAATTACCCTGCCCAGGCGCACAGTGCTTCAAAACCCCACGTAGAGCCAGGAGCAAGAGTATATACACGCTAGGAACTTGGTATCTGAGCTGAGACACCTGAGTCCTCCTGAGGGCCCGGCCTAGTTTAGAAAGGGCGAGAATTTTGCAGGT... |
Task1_train_9837 | With a mutation on Chromosome 5 in gene SNCB (synuclein beta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Lewy body dementia | CTAGAGTCAAACATCTAGGACAGTGCCTGCTCATGAAAGAGATCAATGAATGGAAGTGATTATTGGTAACATGATTATAAGAAATGGGAAGTCATGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTAGCGGGTGCCTGTAATTCCAGCAACTTGGGAGGCTGAGGCAGGAGAATTGCTAGAATCCAGGAGGCAGAGGTTGCA... | CTAGAGTCAAACATCTAGGACAGTGCCTGCTCATGAAAGAGATCAATGAATGGAAGTGATTATTGGTAACATGATTATAAGAAATGGGAAGTCATGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTAGCGGGTGCCTGTAATTCCAGCAACTTGGGAGGCTGAGGCAGGAGAATTGCTAGAATCCAGGAGGCAGAGGTTGCA... |
Task1_train_9838 | A change on Chromosome 5 affects gene NSD1 (nuclear receptor binding SET domain protein 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | AAAAAAAAAAAAAAGTTGTTCAAGTACTTCATTTGTCTCCTCCCACTTATAATTGAGTGGTTTTTTTTAAGAAATAAGTGTTTATTTTTGCAGTTGTCATGCCTTTTGTACTGTAATCATTTATATATGACTTATCTGTCAGACAGTGAGTTCTTTTTTCTCCTCACGTTGCTGGCACATCAGAAGTTCTTGATCTGTTAATGAAATTTATTTATTTATTTATTTCTAAGACAGGGGCTTGCTGTACTGCCAGGGTGGAGTGCAGTGGCGTGATAATGGCTCACTGTATTCTTGACCTTTGAGGATGAAGTGATCCTCCC... | AAAAAAAAAAAAAAGTTGTTCAAGTACTTCATTTGTCTCCTCCCACTTATAATTGAGTGGTTTTTTTTAAGAAATAAGTGTTTATTTTTGCAGTTGTCATGCCTTTTGTACTGTAATCATTTATATATGACTTATCTGTCAGACAGTGAGTTCTTTTTTCTCCTCACGTTGCTGGCACATCAGAAGTTCTTGATCTGTTAATGAAATTTATTTATTTATTTATTTCTAAGACAGGGGCTTGCTGTACTGCCAGGGTGGAGTGCAGTGGCGTGATAATGGCTCACTGTATTCTTGACCTTTGAGGATGAAGTGATCCTCCC... |
Task1_train_9839 | The gene NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Sotos syndrome | GTAGGACATTTTACCAGTTTTGGTACAGTGTAAGAAATGGGAGTCACTTATTAGTGCTCTTGGCTCACCCTATTTTCCTGCAATAGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATC... | GTAGGACATTTTACCAGTTTTGGTACAGTGTAAGAAATGGGAGTCACTTATTAGTGCTCTTGGCTCACCCTATTTTCCTGCAATAGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATC... |
Task1_train_9840 | Chromosome 5 houses a mutation in gene NSD1 (nuclear receptor binding SET domain protein 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Sotos syndrome | CCTGCAATAGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCT... | CCTGCAATAGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCT... |
Task1_train_9841 | A mutation on Chromosome 5 affecting NSD1 (nuclear receptor binding SET domain protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Sotos syndrome | AGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAA... | AGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAA... |
Task1_train_9842 | Here’s a variant in NSD1 (nuclear receptor binding SET domain protein 1) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Sotos syndrome | AGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAA... | AGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAA... |
Task1_train_9843 | A sequence alteration has been identified in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Sotos syndrome | GCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAA... | GCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAA... |
Task1_train_9844 | Given a variant located on Chromosome 5 and affecting NSD1 (nuclear receptor binding SET domain protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Sotos syndrome | GAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAG... | GAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAG... |
Task1_train_9845 | A sequence alteration has been identified in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; not provided | TGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTT... | TGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTT... |
Task1_train_9846 | A mutation on Chromosome 5 affecting NSD1 (nuclear receptor binding SET domain protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | CCCGTGCAGGGCGGGAGAGCCGGGCCTCAGCACATCCTGTAGTCTGTGGAGCAGGACAGGTCGCACAGATGGCCCCTGAAATCTAGGTTGATGGTGAAGTCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTG... | CCCGTGCAGGGCGGGAGAGCCGGGCCTCAGCACATCCTGTAGTCTGTGGAGCAGGACAGGTCGCACAGATGGCCCCTGAAATCTAGGTTGATGGTGAAGTCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTG... |
Task1_train_9847 | Here is a mutation in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GCAGGGCGGGAGAGCCGGGCCTCAGCACATCCTGTAGTCTGTGGAGCAGGACAGGTCGCACAGATGGCCCCTGAAATCTAGGTTGATGGTGAAGTCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTGCTTCA... | GCAGGGCGGGAGAGCCGGGCCTCAGCACATCCTGTAGTCTGTGGAGCAGGACAGGTCGCACAGATGGCCCCTGAAATCTAGGTTGATGGTGAAGTCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTGCTTCA... |
Task1_train_9848 | Mutation context: Chromosome 5, Gene NSD1 (nuclear receptor binding SET domain protein 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | GGAGAGCCGGGCCTCAGCACATCCTGTAGTCTGTGGAGCAGGACAGGTCGCACAGATGGCCCCTGAAATCTAGGTTGATGGTGAAGTCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTGCTTCACTTGCAGG... | GGAGAGCCGGGCCTCAGCACATCCTGTAGTCTGTGGAGCAGGACAGGTCGCACAGATGGCCCCTGAAATCTAGGTTGATGGTGAAGTCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTGCTTCACTTGCAGG... |
Task1_train_9849 | This alteration occurs within gene LOC126807619, NSD1 (MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642| nuclear receptor binding SET domain protein 1) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TTCTGTGCTGTGATTCTTGCCCTGCTGCTTTTCATCGTGAATGCCTGAACATTGATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACA... | TTCTGTGCTGTGATTCTTGCCCTGCTGCTTTTCATCGTGAATGCCTGAACATTGATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACA... |
Task1_train_9850 | A genomic change on Chromosome 5 affects LOC126807619, NSD1 (MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642| nuclear receptor binding SET domain protein 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Sotos syndrome | ATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTT... | ATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTT... |
Task1_train_9851 | This mutation is located in gene LOC126807619, NSD1 (MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642| nuclear receptor binding SET domain protein 1) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Sotos syndrome | ACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGC... | ACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGC... |
Task1_train_9852 | Given a variant located on Chromosome 5 and affecting NSD1 (nuclear receptor binding SET domain protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | GGAATGAGTAATCTAGAATATTTGATATGAGAGAAACAATCATAAGGGCATTATATAAGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTT... | GGAATGAGTAATCTAGAATATTTGATATGAGAGAAACAATCATAAGGGCATTATATAAGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTT... |
Task1_train_9853 | A change on Chromosome 5 affects gene NSD1 (nuclear receptor binding SET domain protein 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Sotos syndrome | ATAAGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATA... | ATAAGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATA... |
Task1_train_9854 | A mutation on Chromosome 5 affecting NSD1 (nuclear receptor binding SET domain protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Sotos syndrome | AAGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAAC... | AAGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAAC... |
Task1_train_9855 | The gene NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | AGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACT... | AGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACT... |
Task1_train_9856 | Chromosome 5 houses a mutation in gene NSD1 (nuclear receptor binding SET domain protein 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAAT... | CACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAAT... |
Task1_train_9857 | This alteration in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | AGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTAT... | AGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTAT... |
Task1_train_9858 | A sequence alteration has been identified in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Sotos syndrome | CCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGC... | CCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGC... |
Task1_train_9859 | The gene NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Sotos syndrome | GCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGT... | GCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGT... |
Task1_train_9860 | Here is a variant affecting NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Sotos syndrome | ACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACA... | ACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACA... |
Task1_train_9861 | This alteration in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | ACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACA... | ACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACA... |
Task1_train_9862 | Consider a variant on Chromosome 5 in gene NSD1 (nuclear receptor binding SET domain protein 1). Determine its clinical classification and disease relevance. | Pathogenic; Sotos syndrome | ATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAA... | ATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAA... |
Task1_train_9863 | A genetic alteration is present in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Sotos syndrome | GAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAG... | GAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAG... |
Task1_train_9864 | Gene NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Sotos syndrome | GACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAA... | GACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAA... |
Task1_train_9865 | This alteration in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Sotos syndrome | TGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCA... | TGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCA... |
Task1_train_9866 | The gene NSD1 (nuclear receptor binding SET domain protein 1) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GATGCCCTCCTCTGCCATGTCTAGCCACAAATTTCTCTTCTTTTTTTCCTGTGTTCATCAGCTCAGGTAGCTTGGTGTTGAAATTCTCAGACTCTTCCTCTCCTCACTTGACTTTCAGTCTGCATAGGTTCAGGATGGGGAAAATGAGACAGGATGTGCTAAGGGACAGGCAGAGTGCCTATCAGAGCTGAGGCCTTCATTCAACTTCCTGGGCCCTTCACATACCTGCAACTTACTGTCTCCCAAGTGTCCCATCCCTACTCTTGTTTATCTCTTCTCTCATGCTCTTTGCCATGCCCAGTAACTGAAGATCCATCAAT... | GATGCCCTCCTCTGCCATGTCTAGCCACAAATTTCTCTTCTTTTTTTCCTGTGTTCATCAGCTCAGGTAGCTTGGTGTTGAAATTCTCAGACTCTTCCTCTCCTCACTTGACTTTCAGTCTGCATAGGTTCAGGATGGGGAAAATGAGACAGGATGTGCTAAGGGACAGGCAGAGTGCCTATCAGAGCTGAGGCCTTCATTCAACTTCCTGGGCCCTTCACATACCTGCAACTTACTGTCTCCCAAGTGTCCCATCCCTACTCTTGTTTATCTCTTCTCTCATGCTCTTTGCCATGCCCAGTAACTGAAGATCCATCAAT... |
Task1_train_9867 | This sequence variant lies in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Sotos syndrome | TCACTGTTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGA... | TCACTGTTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGA... |
Task1_train_9868 | The gene NSD1 (nuclear receptor binding SET domain protein 1), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | ACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAAC... | ACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAAC... |
Task1_train_9869 | Here’s a variant in NSD1 (nuclear receptor binding SET domain protein 1) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Sotos syndrome | CCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAA... | CCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAA... |
Task1_train_9870 | Gene NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTAA... | TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTAA... |
Task1_train_9871 | The gene NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAA... | TACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAA... |
Task1_train_9872 | This variant lies on Chromosome 5 and affects the gene NSD1 (nuclear receptor binding SET domain protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Sotos syndrome | ACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAA... | ACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAA... |
Task1_train_9873 | Here is a variant affecting NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | TACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGA... | TACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGA... |
Task1_train_9874 | The gene NSD1 (nuclear receptor binding SET domain protein 1) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Sotos syndrome | ATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTA... | ATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTA... |
Task1_train_9875 | Mutation context: Chromosome 5, Gene NSD1 (nuclear receptor binding SET domain protein 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Sotos syndrome | AATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAA... | AATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAA... |
Task1_train_9876 | The gene NSD1 (nuclear receptor binding SET domain protein 1), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | AATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTT... | AATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTT... |
Task1_train_9877 | Chromosome 5 houses a mutation in gene NSD1 (nuclear receptor binding SET domain protein 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Sotos syndrome | GGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATT... | GGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATT... |
Task1_train_9878 | Here is a mutation in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Sotos syndrome | AAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTT... | AAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTT... |
Task1_train_9879 | This variant affects the gene SLC34A1 (solute carrier family 34 member 1) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | CTTCATTGAGCTGCTGAGCAGAAGCTGAAACACAGAATTCTAAGGTGAGCCCAGGACCCTCACATCCCAACCCCACCCCCAGCTCTGAGTAGGAAACAGCCCAGCACCCCAGCCCCTTCATCTGTGTCCTATCTGCGCCCACCCCCACCGCGCCCCATATAACATGTCAGTCCAGCCAATCGCGGTGGCTCCCACCTGTAATCCCAGCACTTTGGGAAGCCGAGTGGGCGGATCACCTGAGGTCGAGTTTGCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTG... | CTTCATTGAGCTGCTGAGCAGAAGCTGAAACACAGAATTCTAAGGTGAGCCCAGGACCCTCACATCCCAACCCCACCCCCAGCTCTGAGTAGGAAACAGCCCAGCACCCCAGCCCCTTCATCTGTGTCCTATCTGCGCCCACCCCCACCGCGCCCCATATAACATGTCAGTCCAGCCAATCGCGGTGGCTCCCACCTGTAATCCCAGCACTTTGGGAAGCCGAGTGGGCGGATCACCTGAGGTCGAGTTTGCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTG... |
Task1_train_9880 | A variant on Chromosome 5 in gene SLC34A1 (solute carrier family 34 member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypercalcemia, infantile, 2 | AGAGGGTCACTCCATATCAGAAGACAGTTTACCGAAGGCTCATGATGAGCCAAGCCCTGTGATGAGCGCTTTAAACACATTCCCCCTGTAACCTTTACAGCAGCTCCTCTATTATCCTGCGTTAGAGAAAACAGGCTCTGAGAGGTGGCATGGCTTACCCAGGGTGGTTGGTATAAGAAGCAGGATTTGAACTCAGATCTGCCTAACAGCAAACACCTGGCTCTCTCTCTCCCTTACCCTCGCAGCAGTTACCGTTGCTTTCCCAGCCTGGTTTTCTCATCTAGCCCATCGCAGCCTATTTTTTCCAGGCTTCTTGGCCT... | AGAGGGTCACTCCATATCAGAAGACAGTTTACCGAAGGCTCATGATGAGCCAAGCCCTGTGATGAGCGCTTTAAACACATTCCCCCTGTAACCTTTACAGCAGCTCCTCTATTATCCTGCGTTAGAGAAAACAGGCTCTGAGAGGTGGCATGGCTTACCCAGGGTGGTTGGTATAAGAAGCAGGATTTGAACTCAGATCTGCCTAACAGCAAACACCTGGCTCTCTCTCTCCCTTACCCTCGCAGCAGTTACCGTTGCTTTCCCAGCCTGGTTTTCTCATCTAGCCCATCGCAGCCTATTTTTTCCAGGCTTCTTGGCCT... |
Task1_train_9881 | A mutation in SLC34A1, F12 (solute carrier family 34 member 1| coagulation factor XII), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; FACTOR XII (WASHINGTON D.C.) | CGCCGTCACCCTCGGCCAGCAGGTGGTCGCGGATGACGCAGCAGCGGCGGCCCCCCACGCTCAGGCCCGCCTGCAGGAAGGTGTGCCTGTCCGGCCCCGTGAGCACGCCCACCTCCTGCGGCGAGATGGCCGCCAGCAGGCCCCCGGGCCGCGAAGCCCACACGCAGCTGTTGTCCGCATGGCCCACGATGGCCACGTCGTCGATGCGCTGGTCCCGCAGCACTGCACTGATGTAGACCTTCCAGTCGCCCATCGCGCTCCGAGTGCGCCCAGCCGCCTCGCACCTCTCGGGGAAATATAGAGGCGCCACGCGGGGAAGG... | CGCCGTCACCCTCGGCCAGCAGGTGGTCGCGGATGACGCAGCAGCGGCGGCCCCCCACGCTCAGGCCCGCCTGCAGGAAGGTGTGCCTGTCCGGCCCCGTGAGCACGCCCACCTCCTGCGGCGAGATGGCCGCCAGCAGGCCCCCGGGCCGCGAAGCCCACACGCAGCTGTTGTCCGCATGGCCCACGATGGCCACGTCGTCGATGCGCTGGTCCCGCAGCACTGCACTGATGTAGACCTTCCAGTCGCCCATCGCGCTCCGAGTGCGCCCAGCCGCCTCGCACCTCTCGGGGAAATATAGAGGCGCCACGCGGGGAAGG... |
Task1_train_9882 | A mutation in SLC34A1, F12 (solute carrier family 34 member 1| coagulation factor XII), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; FACTOR XII (LOCARNO) | TAACATGCAGCTTCTCCTTGCACAGGGCTTGGTATACAGTATCCTAGGCTCAGTAAACATTAGCTGGGCTGGCATCTAGATTTTGCACGTTAAGATCTCATAGACCTTGTTCTCTGAGAGCTGTGGAGAAGCTGTGAATCGCTTTTCTGTCTTGGCATTTCCCGGCGGGACCCATGAAGAAAAGAGCTTTCCTTCTCAGCATTTTCAAAGCACTTTATTGAGTTCCTGCGCCATCCTGGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAA... | TAACATGCAGCTTCTCCTTGCACAGGGCTTGGTATACAGTATCCTAGGCTCAGTAAACATTAGCTGGGCTGGCATCTAGATTTTGCACGTTAAGATCTCATAGACCTTGTTCTCTGAGAGCTGTGGAGAAGCTGTGAATCGCTTTTCTGTCTTGGCATTTCCCGGCGGGACCCATGAAGAAAAGAGCTTTCCTTCTCAGCATTTTCAAAGCACTTTATTGAGTTCCTGCGCCATCCTGGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAA... |
Task1_train_9883 | Given this variant in gene F12 (coagulation factor XII) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypertensive disorder | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... |
Task1_train_9884 | Chromosome 5 houses a mutation in gene F12 (coagulation factor XII). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Urticaria | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... |
Task1_train_9885 | The gene F12 (coagulation factor XII) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hyperbilirubinemia | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... |
Task1_train_9886 | This sequence variant lies in F12 (coagulation factor XII) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Angioedema | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... |
Task1_train_9887 | The gene F12 (coagulation factor XII), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Factor XII deficiency disease | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... |
Task1_train_9888 | A mutation found in F12 (coagulation factor XII) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary angioedema type 3 | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... |
Task1_train_9889 | Here’s a variant in F12 (coagulation factor XII) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary angioedema type 3 | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... |
Task1_train_9890 | This sequence change occurs on Chromosome 5, altering F12 (coagulation factor XII). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Factor XII deficiency disease | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... |
Task1_train_9891 | This is a variant in F12 (coagulation factor XII), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary angioneurotic edema | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... | GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTT... |
Task1_train_9892 | This genomic variant is located on Chromosome 5, within the DDX41 (DEAD-box helicase 41) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | CCAGGCCAGCCTATCTTACCGAGGGGCAGATGATGAGTCCATAGGGCCCCTCGCGCTTTGAGAAGGGTAACCTCTTCTCTTGTTCCAGGCAGAACATGATGACGGGCAACGTGAACACCAGTGTCTTGCCTGAACCCGTGAAAGCGATGCCTATCATGTCACGGCCAGATAGACTGTTGGGAGAGGATGACCCGAGGGCCAATTTCAACAGAAGATGAAGGACACCTAGCCATTGCTCCTCCCTGTTCCAGCCCTCCTCAAGGACCCCAGGTCCACAGTCCACACTCACATGGTGGGGATGCCCTGGATCTGAATGGGTG... | CCAGGCCAGCCTATCTTACCGAGGGGCAGATGATGAGTCCATAGGGCCCCTCGCGCTTTGAGAAGGGTAACCTCTTCTCTTGTTCCAGGCAGAACATGATGACGGGCAACGTGAACACCAGTGTCTTGCCTGAACCCGTGAAAGCGATGCCTATCATGTCACGGCCAGATAGACTGTTGGGAGAGGATGACCCGAGGGCCAATTTCAACAGAAGATGAAGGACACCTAGCCATTGCTCCTCCCTGTTCCAGCCCTCCTCAAGGACCCCAGGTCCACAGTCCACACTCACATGGTGGGGATGCCCTGGATCTGAATGGGTG... |
Task1_train_9893 | This mutation occurs in B4GALT7 (beta-1,4-galactosyltransferase 7) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome progeroid type | GAAGCCCTGGGGGGTTTCCTACCAGGCCACCTCTCAGCTGCGTGTGGAACCTGGGCCTGGCTGCAAGGCTACTGGCTTCCAGGTTGGCGGTCTCTCTAGAAAAAGGGAGGAGTTGGTCTGGCTTTAGCATGTGACTTAAGGCATGCCCTGACTGCCTTACCCCTTTCTGTAACTCACTTGGCAAGCTCTCTGCTGTCTGGCCTGTGCTTGCTGTGCTGGGGCCACAGATAAGAATCTGACACGGCCTGAGAAGCAAGGACACAAGGCATTACAAAAAAGTGGGAAGATGCCGTGGGAATACAAAAGTGGGAGCATTATGG... | GAAGCCCTGGGGGGTTTCCTACCAGGCCACCTCTCAGCTGCGTGTGGAACCTGGGCCTGGCTGCAAGGCTACTGGCTTCCAGGTTGGCGGTCTCTCTAGAAAAAGGGAGGAGTTGGTCTGGCTTTAGCATGTGACTTAAGGCATGCCCTGACTGCCTTACCCCTTTCTGTAACTCACTTGGCAAGCTCTCTGCTGTCTGGCCTGTGCTTGCTGTGCTGGGGCCACAGATAAGAATCTGACACGGCCTGAGAAGCAAGGACACAAGGCATTACAAAAAAGTGGGAAGATGCCGTGGGAATACAAAAGTGGGAGCATTATGG... |
Task1_train_9894 | The gene B4GALT7 (beta-1,4-galactosyltransferase 7) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ehlers-Danlos syndrome progeroid type | TGCTGGGAGCCTCACTTTCCTCTGGTCTGTCCACTGCAGCCTTTAAAACTATCTGTTCTCCTCATTCATCCCTCGTCCTCACTCATAGCTGACGACTTTGCTTCCAATTTCAGAAAACAGAATGAAATGGAAGAGAACTTTCCCCAGTTCCCTCCACAACTCACCTGCCAGCCTCTGTGCACAGGGACTCAAGGCTGTTCCAGCTTCTGTCCGGGCTGACTCCCACCATCCCCATCCTTCAGTATTTCCCCCCACCCCACAGTTGGGCCCTTCCTCTCCCTCTCGATCAGCGTTCCTCTCCTGGAGCATACCCATGAGCA... | TGCTGGGAGCCTCACTTTCCTCTGGTCTGTCCACTGCAGCCTTTAAAACTATCTGTTCTCCTCATTCATCCCTCGTCCTCACTCATAGCTGACGACTTTGCTTCCAATTTCAGAAAACAGAATGAAATGGAAGAGAACTTTCCCCAGTTCCCTCCACAACTCACCTGCCAGCCTCTGTGCACAGGGACTCAAGGCTGTTCCAGCTTCTGTCCGGGCTGACTCCCACCATCCCCATCCTTCAGTATTTCCCCCCACCCCACAGTTGGGCCCTTCCTCTCCCTCTCGATCAGCGTTCCTCTCCTGGAGCATACCCATGAGCA... |
Task1_train_9895 | Gene B4GALT7 (beta-1,4-galactosyltransferase 7), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ehlers-Danlos syndrome progeroid type | CTCATTCATCCCTCGTCCTCACTCATAGCTGACGACTTTGCTTCCAATTTCAGAAAACAGAATGAAATGGAAGAGAACTTTCCCCAGTTCCCTCCACAACTCACCTGCCAGCCTCTGTGCACAGGGACTCAAGGCTGTTCCAGCTTCTGTCCGGGCTGACTCCCACCATCCCCATCCTTCAGTATTTCCCCCCACCCCACAGTTGGGCCCTTCCTCTCCCTCTCGATCAGCGTTCCTCTCCTGGAGCATACCCATGAGCACACACACCCTGAAGTGGCTCCTCTCTCAAAGGAAAAAGACTCCCTGGATCCCACATCCCT... | CTCATTCATCCCTCGTCCTCACTCATAGCTGACGACTTTGCTTCCAATTTCAGAAAACAGAATGAAATGGAAGAGAACTTTCCCCAGTTCCCTCCACAACTCACCTGCCAGCCTCTGTGCACAGGGACTCAAGGCTGTTCCAGCTTCTGTCCGGGCTGACTCCCACCATCCCCATCCTTCAGTATTTCCCCCCACCCCACAGTTGGGCCCTTCCTCTCCCTCTCGATCAGCGTTCCTCTCCTGGAGCATACCCATGAGCACACACACCCTGAAGTGGCTCCTCTCTCAAAGGAAAAAGACTCCCTGGATCCCACATCCCT... |
Task1_train_9896 | This variant lies on Chromosome 5 and affects the gene B4GALT7 (beta-1,4-galactosyltransferase 7). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ehlers-Danlos syndrome progeroid type | CACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGT... | CACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGT... |
Task1_train_9897 | Located on Chromosome 5, this mutation impacts B4GALT7 (beta-1,4-galactosyltransferase 7). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 1 | CACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGT... | CACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGT... |
Task1_train_9898 | Gene B4GALT7 (beta-1,4-galactosyltransferase 7) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Lethal skeletal dysplasia | CACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGT... | CACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGT... |
Task1_train_9899 | This mutation occurs in PROP1 (PROP paired-like homeobox 1) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pituitary hormone deficiency, combined, 2 | CCCAGGAGGTGGAGCTTGCAGTGAGTCGAGATTGTGCCACTGGACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAA... | CCCAGGAGGTGGAGCTTGCAGTGAGTCGAGATTGTGCCACTGGACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAA... |
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