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_3500 | A mutation on Chromosome 2 affecting MCFD2 (multiple coagulation factor deficiency 2, ER cargo receptor complex subunit) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Factor 5 and Factor VIII, combined deficiency of, 2 | CAATTTATCATAATCCAGTTTAGAAATTACATTTGCCAGTTAAAAGAAGGCCCTTCAAAATAGGCTTTTGCTTATTTGTTTCATTATGGCTCATTCTTCTTTAATTGGAAAAGTGCCAGTCCTCCTGAGGGTCAGCTCTGTGCACAAATTTGCCTGATAAAATAGAAACAGTGACGAATTGGACAACAAGTTGGCATCAAAACAAGAGGAAGAAGGCACTGCCGATGAGCAGAACCTGTTATGATCTTTGAGGAGAAAGTATTTCCCATGCTCCAAGAGCAGGGTTAGTGGGCTGAGGCTGTTCACATCCTTGGCTGGTT... | CAATTTATCATAATCCAGTTTAGAAATTACATTTGCCAGTTAAAAGAAGGCCCTTCAAAATAGGCTTTTGCTTATTTGTTTCATTATGGCTCATTCTTCTTTAATTGGAAAAGTGCCAGTCCTCCTGAGGGTCAGCTCTGTGCACAAATTTGCCTGATAAAATAGAAACAGTGACGAATTGGACAACAAGTTGGCATCAAAACAAGAGGAAGAAGGCACTGCCGATGAGCAGAACCTGTTATGATCTTTGAGGAGAAAGTATTTCCCATGCTCCAAGAGCAGGGTTAGTGGGCTGAGGCTGTTCACATCCTTGGCTGGTT... |
Task1_train_3501 | This mutation occurs in TTC7A (tetratricopeptide repeat domain 7A) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Gastrointestinal defects and immunodeficiency syndrome 1 | CATACTTCTTGATATCAGGGGTTTTCAGACTTGTTTTTAGCAGTTGAGCCCATTTTTCAAACAGAATCCCATGTGGAAGCTCAATATAGAAAACTTAACGTGTGGAAGCCACTCCGGCCCTGGCCCTCTCTGGGAGGCCTTGCCGGCCTTTCCCTTCTGTCCTGTGTGGCTCCCTCCTGGGCAGAACTCACAGGGCTCAAACCCTCCATTTTTGGTGCTTAATTTTGTGTCTGGCGGCCCGTCGGCTGGCCTCCTTCCCTCCTCCCTGTGGGCCGTGTTCCATTGTGAGCTGCTGGGGTCTGGCCCTTGGGTCTGGTGTG... | CATACTTCTTGATATCAGGGGTTTTCAGACTTGTTTTTAGCAGTTGAGCCCATTTTTCAAACAGAATCCCATGTGGAAGCTCAATATAGAAAACTTAACGTGTGGAAGCCACTCCGGCCCTGGCCCTCTCTGGGAGGCCTTGCCGGCCTTTCCCTTCTGTCCTGTGTGGCTCCCTCCTGGGCAGAACTCACAGGGCTCAAACCCTCCATTTTTGGTGCTTAATTTTGTGTCTGGCGGCCCGTCGGCTGGCCTCCTTCCCTCCTCCCTGTGGGCCGTGTTCCATTGTGAGCTGCTGGGGTCTGGCCCTTGGGTCTGGTGTG... |
Task1_train_3502 | This mutation is located in gene CALM2 (calmodulin 2) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Long QT syndrome 15 | TCAAATACAATCTGGATAAAGAAACAAAACAAAAAACTTGCCCCTCTTTTCCCATGACTGCCACCATCTTGTTCTGTGGGCAGAGGCAACTCACAGGTATCCTGGATCTAACACAGTAGCACAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTT... | TCAAATACAATCTGGATAAAGAAACAAAACAAAAAACTTGCCCCTCTTTTCCCATGACTGCCACCATCTTGTTCTGTGGGCAGAGGCAACTCACAGGTATCCTGGATCTAACACAGTAGCACAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTT... |
Task1_train_3503 | Here’s a variant in CALM2 (calmodulin 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Long QT syndrome 15 | AAGAAACAAAACAAAAAACTTGCCCCTCTTTTCCCATGACTGCCACCATCTTGTTCTGTGGGCAGAGGCAACTCACAGGTATCCTGGATCTAACACAGTAGCACAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACC... | AAGAAACAAAACAAAAAACTTGCCCCTCTTTTCCCATGACTGCCACCATCTTGTTCTGTGGGCAGAGGCAACTCACAGGTATCCTGGATCTAACACAGTAGCACAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACC... |
Task1_train_3504 | Here’s a variant in CALM2 (calmodulin 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Long QT syndrome 1 | AGAAACAAAACAAAAAACTTGCCCCTCTTTTCCCATGACTGCCACCATCTTGTTCTGTGGGCAGAGGCAACTCACAGGTATCCTGGATCTAACACAGTAGCACAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCT... | AGAAACAAAACAAAAAACTTGCCCCTCTTTTCCCATGACTGCCACCATCTTGTTCTGTGGGCAGAGGCAACTCACAGGTATCCTGGATCTAACACAGTAGCACAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCT... |
Task1_train_3505 | This alteration in CALM2 (calmodulin 2) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Long QT syndrome 1 | GAAACAAAACAAAAAACTTGCCCCTCTTTTCCCATGACTGCCACCATCTTGTTCTGTGGGCAGAGGCAACTCACAGGTATCCTGGATCTAACACAGTAGCACAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTT... | GAAACAAAACAAAAAACTTGCCCCTCTTTTCCCATGACTGCCACCATCTTGTTCTGTGGGCAGAGGCAACTCACAGGTATCCTGGATCTAACACAGTAGCACAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTT... |
Task1_train_3506 | This genomic variant is located on Chromosome 2, within the CALM2 (calmodulin 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Long QT syndrome 1 | AAACAAAAAACTTGCCCCTCTTTTCCCATGACTGCCACCATCTTGTTCTGTGGGCAGAGGCAACTCACAGGTATCCTGGATCTAACACAGTAGCACAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTAT... | AAACAAAAAACTTGCCCCTCTTTTCCCATGACTGCCACCATCTTGTTCTGTGGGCAGAGGCAACTCACAGGTATCCTGGATCTAACACAGTAGCACAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTAT... |
Task1_train_3507 | The variant affects gene CALM2 (calmodulin 2), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; SUDDEN INFANT DEATH SYNDROME | TGTGGGCAGAGGCAACTCACAGGTATCCTGGATCTAACACAGTAGCACAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCT... | TGTGGGCAGAGGCAACTCACAGGTATCCTGGATCTAACACAGTAGCACAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCT... |
Task1_train_3508 | The following genetic variant occurs in CALM2 (calmodulin 2) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Long QT syndrome 1 | CAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTA... | CAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTA... |
Task1_train_3509 | This gene mutation involves CALM2 (calmodulin 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Long QT syndrome 1 | CAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTA... | CAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTA... |
Task1_train_3510 | A genomic change on Chromosome 2 affects CALM2 (calmodulin 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Long QT syndrome | CAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTA... | CAGTACGACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTA... |
Task1_train_3511 | Here is a genetic alteration in CALM2 (calmodulin 2) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Long QT syndrome 1 | GACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTATTAGAC... | GACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTATTAGAC... |
Task1_train_3512 | A change on Chromosome 2 affects gene CALM2 (calmodulin 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Long QT syndrome 1 | ACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTATTAGACT... | ACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTATTAGACT... |
Task1_train_3513 | This gene mutation involves CALM2 (calmodulin 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Long QT syndrome 15 | ACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTATTAGACT... | ACACACATGGTGGTGGAGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTATTAGACT... |
Task1_train_3514 | This variant affects the gene EPCAM (epithelial cell adhesion molecule) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial cancer of breast | GGTCTCGAACTCCTGACCTTAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTACCTGGCCTAAATACCTTATTTCATATACCACGTGAAATTTAAATTATACAAAACAAATTATAGAGGTACTTAGAACAGCATGACTATTTACATTAATCAACTTGCCGGCACTTCAACAGAATACAACATAGAAATGATTGTTTTAATATAAACATAAGCTTTGATTTGACATATACTTGTAGAAATTAATCAAACTTAGCTGAATCTTAAAATTGCTTTTTTACCTTTCCTCTTTTTTTTT... | GGTCTCGAACTCCTGACCTTAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTACCTGGCCTAAATACCTTATTTCATATACCACGTGAAATTTAAATTATACAAAACAAATTATAGAGGTACTTAGAACAGCATGACTATTTACATTAATCAACTTGCCGGCACTTCAACAGAATACAACATAGAAATGATTGTTTTAATATAAACATAAGCTTTGATTTGACATATACTTGTAGAAATTAATCAAACTTAGCTGAATCTTAAAATTGCTTTTTTACCTTTCCTCTTTTTTTTT... |
Task1_train_3515 | Given this variant in gene EPCAM (epithelial cell adhesion molecule) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; EPCAM-related disorder | GGTCTCGAACTCCTGACCTTAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTACCTGGCCTAAATACCTTATTTCATATACCACGTGAAATTTAAATTATACAAAACAAATTATAGAGGTACTTAGAACAGCATGACTATTTACATTAATCAACTTGCCGGCACTTCAACAGAATACAACATAGAAATGATTGTTTTAATATAAACATAAGCTTTGATTTGACATATACTTGTAGAAATTAATCAAACTTAGCTGAATCTTAAAATTGCTTTTTTACCTTTCCTCTTTTTTTTT... | GGTCTCGAACTCCTGACCTTAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTACCTGGCCTAAATACCTTATTTCATATACCACGTGAAATTTAAATTATACAAAACAAATTATAGAGGTACTTAGAACAGCATGACTATTTACATTAATCAACTTGCCGGCACTTCAACAGAATACAACATAGAAATGATTGTTTTAATATAAACATAAGCTTTGATTTGACATATACTTGTAGAAATTAATCAAACTTAGCTGAATCTTAAAATTGCTTTTTTACCTTTCCTCTTTTTTTTT... |
Task1_train_3516 | A change on Chromosome 2 affects gene EPCAM (epithelial cell adhesion molecule). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Gastric cancer | TCTCGAACTCCTGACCTTAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTACCTGGCCTAAATACCTTATTTCATATACCACGTGAAATTTAAATTATACAAAACAAATTATAGAGGTACTTAGAACAGCATGACTATTTACATTAATCAACTTGCCGGCACTTCAACAGAATACAACATAGAAATGATTGTTTTAATATAAACATAAGCTTTGATTTGACATATACTTGTAGAAATTAATCAAACTTAGCTGAATCTTAAAATTGCTTTTTTACCTTTCCTCTTTTTTTTTTA... | TCTCGAACTCCTGACCTTAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTACCTGGCCTAAATACCTTATTTCATATACCACGTGAAATTTAAATTATACAAAACAAATTATAGAGGTACTTAGAACAGCATGACTATTTACATTAATCAACTTGCCGGCACTTCAACAGAATACAACATAGAAATGATTGTTTTAATATAAACATAAGCTTTGATTTGACATATACTTGTAGAAATTAATCAAACTTAGCTGAATCTTAAAATTGCTTTTTTACCTTTCCTCTTTTTTTTTTA... |
Task1_train_3517 | A variant was discovered on Chromosome 2, affecting EPCAM (epithelial cell adhesion molecule). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital diarrhea 5 with tufting enteropathy | TTTCCCCTTTTGTGACCCCAGTATTGAGTTTAGTGTTGGGCAGATTAAAGGTGGTTCATATCGACTATAACTTGAACAGGGAAAAATTGAAATCAACTTAGGGTACTTGGGATACGAAGGATCAATATAAAAACTCTGGTTTGTCATGCTAGCTTTTTCTTTTTTTTCCTCTTCAGTTGAACTGAGGAGATAGTTTTTGTTTTTAATGATTGTGCTCTTTTAACTAGACAAAAGGAATTAGATAGTCTTGCCTATTCGAAGTTAAATGAACTTTTGAGGTTGTTAAGGACAAAACTATTAAACTGACATCAATAATACAG... | TTTCCCCTTTTGTGACCCCAGTATTGAGTTTAGTGTTGGGCAGATTAAAGGTGGTTCATATCGACTATAACTTGAACAGGGAAAAATTGAAATCAACTTAGGGTACTTGGGATACGAAGGATCAATATAAAAACTCTGGTTTGTCATGCTAGCTTTTTCTTTTTTTTCCTCTTCAGTTGAACTGAGGAGATAGTTTTTGTTTTTAATGATTGTGCTCTTTTAACTAGACAAAAGGAATTAGATAGTCTTGCCTATTCGAAGTTAAATGAACTTTTGAGGTTGTTAAGGACAAAACTATTAAACTGACATCAATAATACAG... |
Task1_train_3518 | A change on Chromosome 2 affects gene MSH2 (mutS homolog 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCGAGGCTGGAGTGTAGT... | TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCGAGGCTGGAGTGTAGT... |
Task1_train_3519 | The following genetic variant occurs in MSH2 (mutS homolog 2) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Lynch syndrome 1 | GGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAG... | GGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAG... |
Task1_train_3520 | Gene MSH2 (mutS homolog 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Lynch syndrome | AAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTA... | AAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTA... |
Task1_train_3521 | This variant affects gene MSH2 (mutS homolog 2) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Lynch syndrome | CTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGA... | CTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGA... |
Task1_train_3522 | Consider a variant on Chromosome 2 in gene MSH2 (mutS homolog 2). Determine its clinical classification and disease relevance. | Pathogenic; Lynch syndrome 1 | CTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGA... | CTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGA... |
Task1_train_3523 | This variant affects gene MSH2 (mutS homolog 2) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Lynch syndrome | ACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGT... | ACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGT... |
Task1_train_3524 | This variant affects the gene MSH2 (mutS homolog 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | ACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGT... | ACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGT... |
Task1_train_3525 | Gene MSH2 (mutS homolog 2) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Lynch syndrome 1 | GCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAAT... | GCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAAT... |
Task1_train_3526 | A mutation found in MSH2 (mutS homolog 2) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Lynch syndrome | CATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTA... | CATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTA... |
Task1_train_3527 | This variant impacts the gene MSH2 (mutS homolog 2) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Lynch syndrome | CATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTA... | CATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTA... |
Task1_train_3528 | This mutation occurs in MSH2 (mutS homolog 2) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Lynch syndrome | TAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAG... | TAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAG... |
Task1_train_3529 | Consider a variant on Chromosome 2 in gene MSH2 (mutS homolog 2). Determine its clinical classification and disease relevance. | Pathogenic; Lynch syndrome 1 | TCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTA... | TCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTA... |
Task1_train_3530 | This variant lies on Chromosome 2 and affects the gene MSH2 (mutS homolog 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Lynch syndrome | TTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAATATATATAATGTAAATATGTAATATATAATAAATAATATGTAAACTATAGTGACTTTTTAGAAGGATATTTCTGTCATATTTATCTCA... | TTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAATATATATAATGTAAATATGTAATATATAATAAATAATATGTAAACTATAGTGACTTTTTAGAAGGATATTTCTGTCATATTTATCTCA... |
Task1_train_3531 | Here’s a variant in MSH2 (mutS homolog 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Lynch syndrome | TTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAATATATATAATGTAAATATGTAATATATAATAAATAATATGTAAACTATAGTGACTTTTTAGAAGGATATTTCTGTCATATTTATCTCA... | TTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAATATATATAATGTAAATATGTAATATATAATAAATAATATGTAAACTATAGTGACTTTTTAGAAGGATATTTCTGTCATATTTATCTCA... |
Task1_train_3532 | This genomic variant is located on Chromosome 2, within the MSH2 (mutS homolog 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | TTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAATATATATAATGTAAATATGTAATATATAATAAATAATATGTAAACTATAGTGACTTTTTAGAAGGATATTTCTGTCATATTTATCTCA... | TTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAATATATATAATGTAAATATGTAATATATAATAAATAATATGTAAACTATAGTGACTTTTTAGAAGGATATTTCTGTCATATTTATCTCA... |
Task1_train_3533 | A mutation on Chromosome 2 affecting MSH2 (mutS homolog 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | TTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAATATATATAATGTAAATATGTAATATATAATAAATAATATGTAAACTATAGTGACTTTTTAGAAGGATATTTCTGTCATATTTATCTCA... | TTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAATATATATAATGTAAATATGTAATATATAATAAATAATATGTAAACTATAGTGACTTTTTAGAAGGATATTTCTGTCATATTTATCTCA... |
Task1_train_3534 | This alteration occurs within gene MSH2 (mutS homolog 2) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Lynch syndrome | TAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTT... | TAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTT... |
Task1_train_3535 | The variant affects gene MSH2 (mutS homolog 2), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary cancer-predisposing syndrome | TTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAA... | TTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAA... |
Task1_train_3536 | Located on Chromosome 2, this mutation impacts MSH2 (mutS homolog 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Lynch syndrome 1 | TTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAA... | TTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAA... |
Task1_train_3537 | Gene MSH2 (mutS homolog 2) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | TTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAA... | TTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAA... |
Task1_train_3538 | With a mutation on Chromosome 2 in gene MSH2 (mutS homolog 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Lynch syndrome 1 | TTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAG... | TTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAG... |
Task1_train_3539 | Assess the clinical impact of this variant on gene MSH2 (mutS homolog 2), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Lynch syndrome 1 | TTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGT... | TTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGT... |
Task1_train_3540 | This variant lies on Chromosome 2 and affects the gene MSH2 (mutS homolog 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | TTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGT... | TTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGT... |
Task1_train_3541 | Given this context: Chromosome 2, gene MSH2 (mutS homolog 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary cancer-predisposing syndrome | TCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTT... | TCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTT... |
Task1_train_3542 | The variant affects gene MSH2 (mutS homolog 2), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Lynch syndrome 1 | TCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTT... | TCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTT... |
Task1_train_3543 | Located on Chromosome 2, this mutation impacts MSH2 (mutS homolog 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | TCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTT... | TCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTT... |
Task1_train_3544 | An alteration has been detected in MSH2 (mutS homolog 2) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Lynch syndrome | CAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTG... | CAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTG... |
Task1_train_3545 | This genomic variant is located on Chromosome 2, within the MSH2 (mutS homolog 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Lynch syndrome 1 | CTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCA... | CTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCA... |
Task1_train_3546 | This mutation occurs in MSH2 (mutS homolog 2) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Lynch syndrome | CTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCA... | CTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCA... |
Task1_train_3547 | This alteration in MSH2 (mutS homolog 2) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | ATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTC... | ATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTC... |
Task1_train_3548 | Consider a variant on Chromosome 2 in gene MSH2 (mutS homolog 2). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | ATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTC... | ATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTC... |
Task1_train_3549 | The gene MSH2 (mutS homolog 2) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Lynch syndrome | AAAGCAGATTTGTTTCCTTTCTATACCTGTGTAATTTGAGGTTTAGTTTACTGTCACATCGTTTATAAACATAAGGAAGATCGTTGCTCATCTGATAGCATTCCGAACCTTGAGTCATCTGTAATGCCTATGGCCTCCAGAAAAGCTTCTCTAATACTGTACTTAGAGATGTGTAAAATATGTAGGAACATTTTCCCACCTTCGATTGTTAGTTTACCTTTCAGCTTCAGTAATTTACCTTTCAGCTATTACTTTAGTAACATCTTCAACATTGTTTTTCAAACTGCAAGGTGTGACCCAGTAGTGGGTCGTTAAATTAG... | AAAGCAGATTTGTTTCCTTTCTATACCTGTGTAATTTGAGGTTTAGTTTACTGTCACATCGTTTATAAACATAAGGAAGATCGTTGCTCATCTGATAGCATTCCGAACCTTGAGTCATCTGTAATGCCTATGGCCTCCAGAAAAGCTTCTCTAATACTGTACTTAGAGATGTGTAAAATATGTAGGAACATTTTCCCACCTTCGATTGTTAGTTTACCTTTCAGCTTCAGTAATTTACCTTTCAGCTATTACTTTAGTAACATCTTCAACATTGTTTTTCAAACTGCAAGGTGTGACCCAGTAGTGGGTCGTTAAATTAG... |
Task1_train_3550 | Located on Chromosome 2, this mutation impacts MSH2 (mutS homolog 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Lynch syndrome | AGGGTGACATAGGTTCTGAAGTTCGTACAGATACTTATGCAGTATGGATTCTTGGAAAACCTTCTTTAGTCATGTGATAGAAAAATAACAGCTTATGGAAAAAACAGGGTTGAGGCAGACCTGAAAATACATGAAATTTTAAAAACCGCTTCTAACAGAAGCATAACAGACTGTAATAAAAACTGTGGCCTTCCTGGCATTTGCACCCAAACAACAGCATTAGCCAACTCTTTGAAGCCTTAGATCTGTGGCTCTTGTTTTCTCCTTTGAGGTGTAGGTCCTTGAGGGCATTTGCTTCTAATAGAGGCTAGTTTCATCAG... | AGGGTGACATAGGTTCTGAAGTTCGTACAGATACTTATGCAGTATGGATTCTTGGAAAACCTTCTTTAGTCATGTGATAGAAAAATAACAGCTTATGGAAAAAACAGGGTTGAGGCAGACCTGAAAATACATGAAATTTTAAAAACCGCTTCTAACAGAAGCATAACAGACTGTAATAAAAACTGTGGCCTTCCTGGCATTTGCACCCAAACAACAGCATTAGCCAACTCTTTGAAGCCTTAGATCTGTGGCTCTTGTTTTCTCCTTTGAGGTGTAGGTCCTTGAGGGCATTTGCTTCTAATAGAGGCTAGTTTCATCAG... |
Task1_train_3551 | The gene MSH2 (mutS homolog 2) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Lynch syndrome | CAGTATGGATTCTTGGAAAACCTTCTTTAGTCATGTGATAGAAAAATAACAGCTTATGGAAAAAACAGGGTTGAGGCAGACCTGAAAATACATGAAATTTTAAAAACCGCTTCTAACAGAAGCATAACAGACTGTAATAAAAACTGTGGCCTTCCTGGCATTTGCACCCAAACAACAGCATTAGCCAACTCTTTGAAGCCTTAGATCTGTGGCTCTTGTTTTCTCCTTTGAGGTGTAGGTCCTTGAGGGCATTTGCTTCTAATAGAGGCTAGTTTCATCAGAATTAAAAATCTGAACCATGGTATGAAATTCAATTCTTT... | CAGTATGGATTCTTGGAAAACCTTCTTTAGTCATGTGATAGAAAAATAACAGCTTATGGAAAAAACAGGGTTGAGGCAGACCTGAAAATACATGAAATTTTAAAAACCGCTTCTAACAGAAGCATAACAGACTGTAATAAAAACTGTGGCCTTCCTGGCATTTGCACCCAAACAACAGCATTAGCCAACTCTTTGAAGCCTTAGATCTGTGGCTCTTGTTTTCTCCTTTGAGGTGTAGGTCCTTGAGGGCATTTGCTTCTAATAGAGGCTAGTTTCATCAGAATTAAAAATCTGAACCATGGTATGAAATTCAATTCTTT... |
Task1_train_3552 | Given this context: Chromosome 2, gene MSH2 (mutS homolog 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Lynch syndrome | CTGGGAATTGGGAAACACGAGTTCTAGTTGCAGCTTGGAAACTTTTTCTGAAGCTCTTTACAAATTACTTAATTTCTCTGGTTTTCACCACATTGTTCTATAGCATTAACATGTTGGATTCATTGCTTTAATTCTTAGACCTACGTGTCATCAGAAATGCCATTACACTTTGAGGATTTGAGCCTTATTTTAAATAAAGTTGTGATCCTCATGGCAGCCTAGGTTTACATGTGTTAAATAAACAGTATTCTGTAAATACCATTGTCTTTCATGTTTAGTGATGTTGCTGTTGTTAACACTGCAGTGAAATGCATATATAA... | CTGGGAATTGGGAAACACGAGTTCTAGTTGCAGCTTGGAAACTTTTTCTGAAGCTCTTTACAAATTACTTAATTTCTCTGGTTTTCACCACATTGTTCTATAGCATTAACATGTTGGATTCATTGCTTTAATTCTTAGACCTACGTGTCATCAGAAATGCCATTACACTTTGAGGATTTGAGCCTTATTTTAAATAAAGTTGTGATCCTCATGGCAGCCTAGGTTTACATGTGTTAAATAAACAGTATTCTGTAAATACCATTGTCTTTCATGTTTAGTGATGTTGCTGTTGTTAACACTGCAGTGAAATGCATATATAA... |
Task1_train_3553 | Gene MSH2 (mutS homolog 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Lynch syndrome | CTGGGAATTGGGAAACACGAGTTCTAGTTGCAGCTTGGAAACTTTTTCTGAAGCTCTTTACAAATTACTTAATTTCTCTGGTTTTCACCACATTGTTCTATAGCATTAACATGTTGGATTCATTGCTTTAATTCTTAGACCTACGTGTCATCAGAAATGCCATTACACTTTGAGGATTTGAGCCTTATTTTAAATAAAGTTGTGATCCTCATGGCAGCCTAGGTTTACATGTGTTAAATAAACAGTATTCTGTAAATACCATTGTCTTTCATGTTTAGTGATGTTGCTGTTGTTAACACTGCAGTGAAATGCATATATAA... | CTGGGAATTGGGAAACACGAGTTCTAGTTGCAGCTTGGAAACTTTTTCTGAAGCTCTTTACAAATTACTTAATTTCTCTGGTTTTCACCACATTGTTCTATAGCATTAACATGTTGGATTCATTGCTTTAATTCTTAGACCTACGTGTCATCAGAAATGCCATTACACTTTGAGGATTTGAGCCTTATTTTAAATAAAGTTGTGATCCTCATGGCAGCCTAGGTTTACATGTGTTAAATAAACAGTATTCTGTAAATACCATTGTCTTTCATGTTTAGTGATGTTGCTGTTGTTAACACTGCAGTGAAATGCATATATAA... |
Task1_train_3554 | A variant has been detected on Chromosome 2 in MSH2 (mutS homolog 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Lynch syndrome | TGGGAATTGGGAAACACGAGTTCTAGTTGCAGCTTGGAAACTTTTTCTGAAGCTCTTTACAAATTACTTAATTTCTCTGGTTTTCACCACATTGTTCTATAGCATTAACATGTTGGATTCATTGCTTTAATTCTTAGACCTACGTGTCATCAGAAATGCCATTACACTTTGAGGATTTGAGCCTTATTTTAAATAAAGTTGTGATCCTCATGGCAGCCTAGGTTTACATGTGTTAAATAAACAGTATTCTGTAAATACCATTGTCTTTCATGTTTAGTGATGTTGCTGTTGTTAACACTGCAGTGAAATGCATATATAAG... | TGGGAATTGGGAAACACGAGTTCTAGTTGCAGCTTGGAAACTTTTTCTGAAGCTCTTTACAAATTACTTAATTTCTCTGGTTTTCACCACATTGTTCTATAGCATTAACATGTTGGATTCATTGCTTTAATTCTTAGACCTACGTGTCATCAGAAATGCCATTACACTTTGAGGATTTGAGCCTTATTTTAAATAAAGTTGTGATCCTCATGGCAGCCTAGGTTTACATGTGTTAAATAAACAGTATTCTGTAAATACCATTGTCTTTCATGTTTAGTGATGTTGCTGTTGTTAACACTGCAGTGAAATGCATATATAAG... |
Task1_train_3555 | A variant found in Chromosome 2 affects MSH2 (mutS homolog 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Lynch syndrome | GCACAATTTTGGCCCACTGCAACCTCCACCTCCTGGGCTCAAGCCATCCCACCTCAGCCACCCAAGTAGCTGGGACTACAGGTGTTGCCCACTGCTTTGTATTTTTAATAGACACAGGATTTCCCCATGTTGCTCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCACCTGCCTTGCCCTCCCAAAGTTCTGGGATTACAGGATTACAGATGCTGTGCCCGGCCCAACCTCTAATTTTAATTTTCTCTTCAAATTGTTCAATAAGATTTAGTTTCAAGACATTTTCCTGGCCGGGCATGGTGGCTTACGCCTATAAT... | GCACAATTTTGGCCCACTGCAACCTCCACCTCCTGGGCTCAAGCCATCCCACCTCAGCCACCCAAGTAGCTGGGACTACAGGTGTTGCCCACTGCTTTGTATTTTTAATAGACACAGGATTTCCCCATGTTGCTCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCACCTGCCTTGCCCTCCCAAAGTTCTGGGATTACAGGATTACAGATGCTGTGCCCGGCCCAACCTCTAATTTTAATTTTCTCTTCAAATTGTTCAATAAGATTTAGTTTCAAGACATTTTCCTGGCCGGGCATGGTGGCTTACGCCTATAAT... |
Task1_train_3556 | This is a variant in MSH2 (mutS homolog 2), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary cancer-predisposing syndrome | GCACAATTTTGGCCCACTGCAACCTCCACCTCCTGGGCTCAAGCCATCCCACCTCAGCCACCCAAGTAGCTGGGACTACAGGTGTTGCCCACTGCTTTGTATTTTTAATAGACACAGGATTTCCCCATGTTGCTCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCACCTGCCTTGCCCTCCCAAAGTTCTGGGATTACAGGATTACAGATGCTGTGCCCGGCCCAACCTCTAATTTTAATTTTCTCTTCAAATTGTTCAATAAGATTTAGTTTCAAGACATTTTCCTGGCCGGGCATGGTGGCTTACGCCTATAAT... | GCACAATTTTGGCCCACTGCAACCTCCACCTCCTGGGCTCAAGCCATCCCACCTCAGCCACCCAAGTAGCTGGGACTACAGGTGTTGCCCACTGCTTTGTATTTTTAATAGACACAGGATTTCCCCATGTTGCTCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCACCTGCCTTGCCCTCCCAAAGTTCTGGGATTACAGGATTACAGATGCTGTGCCCGGCCCAACCTCTAATTTTAATTTTCTCTTCAAATTGTTCAATAAGATTTAGTTTCAAGACATTTTCCTGGCCGGGCATGGTGGCTTACGCCTATAAT... |
Task1_train_3557 | Gene MSH2 (mutS homolog 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | TTTTTCAGATGGGGTCTTACCATGTTGCCCAGGCTTTAGTGCAGTGATGCGATCATGACTCACTGCAGCCTCAACCTCCTAGGTTCAAGGGATTCTCCCCACTTAGCCTCCCAAGTAGCTTGGGACTACTACATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGT... | TTTTTCAGATGGGGTCTTACCATGTTGCCCAGGCTTTAGTGCAGTGATGCGATCATGACTCACTGCAGCCTCAACCTCCTAGGTTCAAGGGATTCTCCCCACTTAGCCTCCCAAGTAGCTTGGGACTACTACATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGT... |
Task1_train_3558 | Located on Chromosome 2, this mutation impacts MSH2 (mutS homolog 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | TTTTTCAGATGGGGTCTTACCATGTTGCCCAGGCTTTAGTGCAGTGATGCGATCATGACTCACTGCAGCCTCAACCTCCTAGGTTCAAGGGATTCTCCCCACTTAGCCTCCCAAGTAGCTTGGGACTACTACATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGT... | TTTTTCAGATGGGGTCTTACCATGTTGCCCAGGCTTTAGTGCAGTGATGCGATCATGACTCACTGCAGCCTCAACCTCCTAGGTTCAAGGGATTCTCCCCACTTAGCCTCCCAAGTAGCTTGGGACTACTACATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGT... |
Task1_train_3559 | This gene mutation involves MSH2 (mutS homolog 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Lynch syndrome | GGTTCAAGGGATTCTCCCCACTTAGCCTCCCAAGTAGCTTGGGACTACTACATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTG... | GGTTCAAGGGATTCTCCCCACTTAGCCTCCCAAGTAGCTTGGGACTACTACATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTG... |
Task1_train_3560 | This gene mutation involves MSH2 (mutS homolog 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Lynch syndrome | GGACTACTACATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGA... | GGACTACTACATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGA... |
Task1_train_3561 | Assess the clinical impact of this variant on gene MSH2 (mutS homolog 2), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Lynch syndrome | CATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTG... | CATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTG... |
Task1_train_3562 | Here is a mutation in MSH2 (mutS homolog 2) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Lynch syndrome | GGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTT... | GGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTT... |
Task1_train_3563 | Chromosome 2 houses a mutation in gene MSH2 (mutS homolog 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Lynch syndrome | ATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGA... | ATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGA... |
Task1_train_3564 | Here is a variant affecting MSH2 (mutS homolog 2) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Lynch syndrome | GTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGT... | GTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGT... |
Task1_train_3565 | Gene MSH2 (mutS homolog 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Lynch syndrome | TGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGC... | TGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGC... |
Task1_train_3566 | Given this context: Chromosome 2, gene MSH2 (mutS homolog 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | TGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGC... | TGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGC... |
Task1_train_3567 | Gene MSH2 (mutS homolog 2) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | TGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGC... | TGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGC... |
Task1_train_3568 | A variant has been detected on Chromosome 2 in MSH2 (mutS homolog 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Lynch syndrome | TCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGA... | TCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGA... |
Task1_train_3569 | A mutation found in MSH2 (mutS homolog 2) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Lynch syndrome | GGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTG... | GGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTG... |
Task1_train_3570 | The gene MSH2 (mutS homolog 2) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Lynch syndrome | ATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCC... | ATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCC... |
Task1_train_3571 | This alteration occurs within gene MSH2 (mutS homolog 2) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Lynch syndrome | TAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCC... | TAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCC... |
Task1_train_3572 | This mutation is located in gene MSH2 (mutS homolog 2) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Lynch syndrome | CCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCT... | CCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCT... |
Task1_train_3573 | The variant affects gene MSH2 (mutS homolog 2), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Lynch syndrome 1 | AACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTC... | AACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTC... |
Task1_train_3574 | Gene MSH2 (mutS homolog 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | GTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTT... | GTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTT... |
Task1_train_3575 | This alteration in MSH2 (mutS homolog 2) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | GTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTT... | GTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTT... |
Task1_train_3576 | Here’s a variant in MSH2 (mutS homolog 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Lynch syndrome | GTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTT... | GTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTT... |
Task1_train_3577 | This genomic variant is located on Chromosome 2, within the MSH2 (mutS homolog 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Lynch syndrome 1 | GTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTT... | GTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTT... |
Task1_train_3578 | A genomic change on Chromosome 2 affects MSH2 (mutS homolog 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | GTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTT... | GTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTT... |
Task1_train_3579 | With a mutation on Chromosome 2 in gene MSH6 (mutS homolog 6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | GTAGCAAATTTTGACCTGAGGCTATTTATAGTCTATATTCTGTATTCTTTCTACTTAGTATGAATAAGCATGTAAGTTTTACTGCATGTTTGATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTT... | GTAGCAAATTTTGACCTGAGGCTATTTATAGTCTATATTCTGTATTCTTTCTACTTAGTATGAATAAGCATGTAAGTTTTACTGCATGTTTGATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTT... |
Task1_train_3580 | A variant was discovered in gene MSH6 (mutS homolog 6), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary cancer-predisposing syndrome | AAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCT... | AAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCT... |
Task1_train_3581 | Here is a mutation in MSH6 (mutS homolog 6) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | ACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGG... | ACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGG... |
Task1_train_3582 | A variant has been detected on Chromosome 2 in MSH6 (mutS homolog 6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Lynch syndrome 5 | GTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGC... | GTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGC... |
Task1_train_3583 | A genetic alteration is present in MSH6 (mutS homolog 6) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | GTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGC... | GTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGC... |
Task1_train_3584 | This is a variant in MSH6 (mutS homolog 6), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | GTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGC... | GTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGC... |
Task1_train_3585 | This variant lies on Chromosome 2 and affects the gene MSH6 (mutS homolog 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Lynch syndrome 5 | CTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTC... | CTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTC... |
Task1_train_3586 | Here’s a variant in MSH6 (mutS homolog 6) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary cancer-predisposing syndrome | CTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTC... | CTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTC... |
Task1_train_3587 | Mutation context: Chromosome 2, Gene MSH6 (mutS homolog 6). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Gastric cancer | GCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCG... | GCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCG... |
Task1_train_3588 | Gene MSH6 (mutS homolog 6) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Lynch syndrome 1 | TCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGG... | TCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGG... |
Task1_train_3589 | This variant affects gene MSH6 (mutS homolog 6) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Lynch syndrome | TCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCG... | TCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCG... |
Task1_train_3590 | Here’s a variant in MSH6 (mutS homolog 6) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Lynch syndrome | CATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCTTTCTTATGCTATTAATGAGCATATCGCCTCCTGATATTTATGATATATGGTCATGCCAAC... | CATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCTTTCTTATGCTATTAATGAGCATATCGCCTCCTGATATTTATGATATATGGTCATGCCAAC... |
Task1_train_3591 | This variant affects gene MSH6 (mutS homolog 6) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Lynch syndrome | CATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCTTTCTTATGCTATTAATGAGCATATCGCCTCCTGATATTTATGATATATGGTCATGCCAACAGCTTTGTCATAAATAGAACTCCCATGGCAGCAATCACTTAATCTTGTAGTTAGAGGTGGGGTCTCACCATGTTGCCGAGCTGGCCTTGAACT... | CATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCTTTCTTATGCTATTAATGAGCATATCGCCTCCTGATATTTATGATATATGGTCATGCCAACAGCTTTGTCATAAATAGAACTCCCATGGCAGCAATCACTTAATCTTGTAGTTAGAGGTGGGGTCTCACCATGTTGCCGAGCTGGCCTTGAACT... |
Task1_train_3592 | Given a variant located on Chromosome 2 and affecting MSH6 (mutS homolog 6), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lynch syndrome 1 | AGCATATTAAGAGAATTTACAGTAGTACAGATGGGGTTATCCCATCCACAACTTATGATGGGGTTACATAAACTAAAAACGTGTTTAATACACCTACCCCACCGAATATTGTAGCTTGGGCGTAGCCTAACCTATCTCAGACGTGCTCAGAACACTTAAATGTTAGCCTAAAGTTGGGCAAGATCATCTAACACAAAGCCTATTTTATAATAAGGAATTGCCTATCTCATGTAATTCATCGAATACTGTACTAAAAATGAAAAACAGTGGCTGCACGGGTACCATTATAAAGTCAAAAAATCATAAGTTGAACTGTCTTA... | AGCATATTAAGAGAATTTACAGTAGTACAGATGGGGTTATCCCATCCACAACTTATGATGGGGTTACATAAACTAAAAACGTGTTTAATACACCTACCCCACCGAATATTGTAGCTTGGGCGTAGCCTAACCTATCTCAGACGTGCTCAGAACACTTAAATGTTAGCCTAAAGTTGGGCAAGATCATCTAACACAAAGCCTATTTTATAATAAGGAATTGCCTATCTCATGTAATTCATCGAATACTGTACTAAAAATGAAAAACAGTGGCTGCACGGGTACCATTATAAAGTCAAAAAATCATAAGTTGAACTGTCTTA... |
Task1_train_3593 | Here is a variant affecting MSH6 (mutS homolog 6) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Lynch syndrome | ATTTACAGTAGTACAGATGGGGTTATCCCATCCACAACTTATGATGGGGTTACATAAACTAAAAACGTGTTTAATACACCTACCCCACCGAATATTGTAGCTTGGGCGTAGCCTAACCTATCTCAGACGTGCTCAGAACACTTAAATGTTAGCCTAAAGTTGGGCAAGATCATCTAACACAAAGCCTATTTTATAATAAGGAATTGCCTATCTCATGTAATTCATCGAATACTGTACTAAAAATGAAAAACAGTGGCTGCACGGGTACCATTATAAAGTCAAAAAATCATAAGTTGAACTGTCTTACATTATGGTTTTCC... | ATTTACAGTAGTACAGATGGGGTTATCCCATCCACAACTTATGATGGGGTTACATAAACTAAAAACGTGTTTAATACACCTACCCCACCGAATATTGTAGCTTGGGCGTAGCCTAACCTATCTCAGACGTGCTCAGAACACTTAAATGTTAGCCTAAAGTTGGGCAAGATCATCTAACACAAAGCCTATTTTATAATAAGGAATTGCCTATCTCATGTAATTCATCGAATACTGTACTAAAAATGAAAAACAGTGGCTGCACGGGTACCATTATAAAGTCAAAAAATCATAAGTTGAACTGTCTTACATTATGGTTTTCC... |
Task1_train_3594 | Gene MSH6 (mutS homolog 6) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Lynch syndrome 1 | GAGACATGGTCTTGCTCTGTTGCCCAGGCTAGAATATGGTGACACAACCATGGCTACTGCAGCCTCGACCTCCCAGGCTTAAGTGATCTTTCCACCTCAGCCTCCCAAGTAGCTGAGATTACAGATATGCACCACCATGCATGGCTAATATTTAAATGTTTGTAGAGAGATGGGGTCTCACTGTGTTGCCAGGACTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCGGCTTCCCAAAGTGCTGAGGTTACAGGCATGACCCATTGCGCCTGGCCCTTTCTTCAGTCTTTAATAATCGAACAAAAGGTTTTTG... | GAGACATGGTCTTGCTCTGTTGCCCAGGCTAGAATATGGTGACACAACCATGGCTACTGCAGCCTCGACCTCCCAGGCTTAAGTGATCTTTCCACCTCAGCCTCCCAAGTAGCTGAGATTACAGATATGCACCACCATGCATGGCTAATATTTAAATGTTTGTAGAGAGATGGGGTCTCACTGTGTTGCCAGGACTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCGGCTTCCCAAAGTGCTGAGGTTACAGGCATGACCCATTGCGCCTGGCCCTTTCTTCAGTCTTTAATAATCGAACAAAAGGTTTTTG... |
Task1_train_3595 | This genomic variant is located on Chromosome 2, within the MSH6 (mutS homolog 6) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Lynch syndrome | CTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAACTGATTCTTAAAGTTTTGTTATCAGAAAGTCATTTGTGACATTAGGAATAACATACTTAGGTGATCATTTTCCAAACACAGTTACATAAAAGTCAGCCAGTGACTTAATAGGAAGCAAAGGGAAATTACTCCCTGTGTTATAAAATTGAGAATTATATTTAGCTGAAACATCGATGCTTAATGTTAAGGGGAATATATGTTAAAAAGGGGAAGGAGGTCAGTCATTCAGGTCATGAGGCCCTTTGACTTGAATTCATTTCCTCAGAAGGTAGGTA... | CTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAACTGATTCTTAAAGTTTTGTTATCAGAAAGTCATTTGTGACATTAGGAATAACATACTTAGGTGATCATTTTCCAAACACAGTTACATAAAAGTCAGCCAGTGACTTAATAGGAAGCAAAGGGAAATTACTCCCTGTGTTATAAAATTGAGAATTATATTTAGCTGAAACATCGATGCTTAATGTTAAGGGGAATATATGTTAAAAAGGGGAAGGAGGTCAGTCATTCAGGTCATGAGGCCCTTTGACTTGAATTCATTTCCTCAGAAGGTAGGTA... |
Task1_train_3596 | The gene MSH6 (mutS homolog 6) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Lynch syndrome 5 | CAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAGAACAGAACC... | CAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAGAACAGAACC... |
Task1_train_3597 | This variant affects gene MSH6 (mutS homolog 6) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary cancer-predisposing syndrome | TGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAGAACAGAACCAACGTACATGTGATTGTGAAAGTTGTTTTAGAGTGCCTAGCTCTTACGTAAGGGTTCATAAGAAAGACAA... | TGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAGAACAGAACCAACGTACATGTGATTGTGAAAGTTGTTTTAGAGTGCCTAGCTCTTACGTAAGGGTTCATAAGAAAGACAA... |
Task1_train_3598 | Here is a variant affecting MSH6 (mutS homolog 6) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Lynch syndrome 5 | TGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAGAACAGAACCAACGTACATGTGATTGTGAAAGTTGTTTTAGAGTGCCTAGCTCTTACGTAAGGGTTCATAAGAAAGACAA... | TGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAGAACAGAACCAACGTACATGTGATTGTGAAAGTTGTTTTAGAGTGCCTAGCTCTTACGTAAGGGTTCATAAGAAAGACAA... |
Task1_train_3599 | Consider this mutation in MSH6 (mutS homolog 6) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Lynch syndrome | GCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAGAACAGAACCAACGTACATGTGATTGTGAAAGTTGTTTTAGAGTGCCTAGCTCTTACGTAAGGGTTCATAAGAAAGACAAAAGTTTATGAAACTGTTACTACCAGTCATAAAAGACCTTTTCCTCCCTCATTCACAGGCTGGCTTATTAG... | GCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAGAACAGAACCAACGTACATGTGATTGTGAAAGTTGTTTTAGAGTGCCTAGCTCTTACGTAAGGGTTCATAAGAAAGACAAAAGTTTATGAAACTGTTACTACCAGTCATAAAAGACCTTTTCCTCCCTCATTCACAGGCTGGCTTATTAG... |
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