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_16400 | A variant on Chromosome 11 in gene CTSC (cathepsin C) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Papillon-Lefèvre syndrome | AAAGCAGACTTCGACAGTAGATAAATCCAAGTTGAAATGTAGTCTATCTTAAGTTCTTATTCTGGGCAATCCCTCATAATCTCTGAAAACTTAGGGCCTCTTCAAATCATTGCTTGTCCTCAAGCAAACATGTTGTATAATCTGACTTCCATGCCAGTTAGGTTCACACCAGTATTTAGCCATTTAATATTTCCTAAAGTATTTAATGAATGACACCAGCAATGAATTTACTTAAGAGCCAGTCAGGGCCCTCATGAAATAGTGCAAAATCACAGGCACTCTACATCATGATGAGTTGTTCTCATGTGTCAGCCGACTGC... | AAAGCAGACTTCGACAGTAGATAAATCCAAGTTGAAATGTAGTCTATCTTAAGTTCTTATTCTGGGCAATCCCTCATAATCTCTGAAAACTTAGGGCCTCTTCAAATCATTGCTTGTCCTCAAGCAAACATGTTGTATAATCTGACTTCCATGCCAGTTAGGTTCACACCAGTATTTAGCCATTTAATATTTCCTAAAGTATTTAATGAATGACACCAGCAATGAATTTACTTAAGAGCCAGTCAGGGCCCTCATGAAATAGTGCAAAATCACAGGCACTCTACATCATGATGAGTTGTTCTCATGTGTCAGCCGACTGC... |
Task1_train_16401 | Mutation context: Chromosome 11, Gene CTSC (cathepsin C). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Periodontitis, aggressive 1 | GTTCTTATTCTGGGCAATCCCTCATAATCTCTGAAAACTTAGGGCCTCTTCAAATCATTGCTTGTCCTCAAGCAAACATGTTGTATAATCTGACTTCCATGCCAGTTAGGTTCACACCAGTATTTAGCCATTTAATATTTCCTAAAGTATTTAATGAATGACACCAGCAATGAATTTACTTAAGAGCCAGTCAGGGCCCTCATGAAATAGTGCAAAATCACAGGCACTCTACATCATGATGAGTTGTTCTCATGTGTCAGCCGACTGCTGTCCAACTGGAAAACTAGAGAATAAATTCATGCTTACATGTTAAATAGAAT... | GTTCTTATTCTGGGCAATCCCTCATAATCTCTGAAAACTTAGGGCCTCTTCAAATCATTGCTTGTCCTCAAGCAAACATGTTGTATAATCTGACTTCCATGCCAGTTAGGTTCACACCAGTATTTAGCCATTTAATATTTCCTAAAGTATTTAATGAATGACACCAGCAATGAATTTACTTAAGAGCCAGTCAGGGCCCTCATGAAATAGTGCAAAATCACAGGCACTCTACATCATGATGAGTTGTTCTCATGTGTCAGCCGACTGCTGTCCAACTGGAAAACTAGAGAATAAATTCATGCTTACATGTTAAATAGAAT... |
Task1_train_16402 | A variant was discovered in gene CTSC (cathepsin C), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Haim-Munk syndrome | GCCCTCATGAAATAGTGCAAAATCACAGGCACTCTACATCATGATGAGTTGTTCTCATGTGTCAGCCGACTGCTGTCCAACTGGAAAACTAGAGAATAAATTCATGCTTACATGTTAAATAGAATTGTGTTTGTTAAACTGACAGATAGTATCTTCATGAATTTTAGTGAAAAAAAACTTATGCTTGATTTCAAAGGTCTGTTTATATGTTCACATAGCAGTGAGGCTGGGCACAAAATAGGATGGAAATTACATTCAATCAGTAACAATAAAAAGAAAATGTATCTCATCTCCTTGGAGGCCTTCCAATGATTCCGACC... | GCCCTCATGAAATAGTGCAAAATCACAGGCACTCTACATCATGATGAGTTGTTCTCATGTGTCAGCCGACTGCTGTCCAACTGGAAAACTAGAGAATAAATTCATGCTTACATGTTAAATAGAATTGTGTTTGTTAAACTGACAGATAGTATCTTCATGAATTTTAGTGAAAAAAAACTTATGCTTGATTTCAAAGGTCTGTTTATATGTTCACATAGCAGTGAGGCTGGGCACAAAATAGGATGGAAATTACATTCAATCAGTAACAATAAAAAGAAAATGTATCTCATCTCCTTGGAGGCCTTCCAATGATTCCGACC... |
Task1_train_16403 | This sequence change occurs on Chromosome 11, altering CTSC (cathepsin C). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Papillon-Lefèvre syndrome | GCCCTCATGAAATAGTGCAAAATCACAGGCACTCTACATCATGATGAGTTGTTCTCATGTGTCAGCCGACTGCTGTCCAACTGGAAAACTAGAGAATAAATTCATGCTTACATGTTAAATAGAATTGTGTTTGTTAAACTGACAGATAGTATCTTCATGAATTTTAGTGAAAAAAAACTTATGCTTGATTTCAAAGGTCTGTTTATATGTTCACATAGCAGTGAGGCTGGGCACAAAATAGGATGGAAATTACATTCAATCAGTAACAATAAAAAGAAAATGTATCTCATCTCCTTGGAGGCCTTCCAATGATTCCGACC... | GCCCTCATGAAATAGTGCAAAATCACAGGCACTCTACATCATGATGAGTTGTTCTCATGTGTCAGCCGACTGCTGTCCAACTGGAAAACTAGAGAATAAATTCATGCTTACATGTTAAATAGAATTGTGTTTGTTAAACTGACAGATAGTATCTTCATGAATTTTAGTGAAAAAAAACTTATGCTTGATTTCAAAGGTCTGTTTATATGTTCACATAGCAGTGAGGCTGGGCACAAAATAGGATGGAAATTACATTCAATCAGTAACAATAAAAAGAAAATGTATCTCATCTCCTTGGAGGCCTTCCAATGATTCCGACC... |
Task1_train_16404 | This alteration occurs within gene CTSC (cathepsin C) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Periodontitis, aggressive 1 | GCCCTCATGAAATAGTGCAAAATCACAGGCACTCTACATCATGATGAGTTGTTCTCATGTGTCAGCCGACTGCTGTCCAACTGGAAAACTAGAGAATAAATTCATGCTTACATGTTAAATAGAATTGTGTTTGTTAAACTGACAGATAGTATCTTCATGAATTTTAGTGAAAAAAAACTTATGCTTGATTTCAAAGGTCTGTTTATATGTTCACATAGCAGTGAGGCTGGGCACAAAATAGGATGGAAATTACATTCAATCAGTAACAATAAAAAGAAAATGTATCTCATCTCCTTGGAGGCCTTCCAATGATTCCGACC... | GCCCTCATGAAATAGTGCAAAATCACAGGCACTCTACATCATGATGAGTTGTTCTCATGTGTCAGCCGACTGCTGTCCAACTGGAAAACTAGAGAATAAATTCATGCTTACATGTTAAATAGAATTGTGTTTGTTAAACTGACAGATAGTATCTTCATGAATTTTAGTGAAAAAAAACTTATGCTTGATTTCAAAGGTCTGTTTATATGTTCACATAGCAGTGAGGCTGGGCACAAAATAGGATGGAAATTACATTCAATCAGTAACAATAAAAAGAAAATGTATCTCATCTCCTTGGAGGCCTTCCAATGATTCCGACC... |
Task1_train_16405 | A sequence alteration has been identified in CTSC (cathepsin C) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Periodontitis, aggressive 1 | TGACAGATAGTATCTTCATGAATTTTAGTGAAAAAAAACTTATGCTTGATTTCAAAGGTCTGTTTATATGTTCACATAGCAGTGAGGCTGGGCACAAAATAGGATGGAAATTACATTCAATCAGTAACAATAAAAAGAAAATGTATCTCATCTCCTTGGAGGCCTTCCAATGATTCCGACCCTGGCTATGCCTTCCAGTGCTGTTTCTGTGCCACCATGTGGTGAAAAGATCAAAGGTATGTGGCAGCATGCCAGGAGGTCCAGGAAGCCAAACTTTAAATGGTGCATACTCCTGGAGCCCTACTGCAGTTCAAGGAGGG... | TGACAGATAGTATCTTCATGAATTTTAGTGAAAAAAAACTTATGCTTGATTTCAAAGGTCTGTTTATATGTTCACATAGCAGTGAGGCTGGGCACAAAATAGGATGGAAATTACATTCAATCAGTAACAATAAAAAGAAAATGTATCTCATCTCCTTGGAGGCCTTCCAATGATTCCGACCCTGGCTATGCCTTCCAGTGCTGTTTCTGTGCCACCATGTGGTGAAAAGATCAAAGGTATGTGGCAGCATGCCAGGAGGTCCAGGAAGCCAAACTTTAAATGGTGCATACTCCTGGAGCCCTACTGCAGTTCAAGGAGGG... |
Task1_train_16406 | A variant found in Chromosome 11 affects CTSC (cathepsin C). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Papillon-Lefèvre syndrome | TGACAGATAGTATCTTCATGAATTTTAGTGAAAAAAAACTTATGCTTGATTTCAAAGGTCTGTTTATATGTTCACATAGCAGTGAGGCTGGGCACAAAATAGGATGGAAATTACATTCAATCAGTAACAATAAAAAGAAAATGTATCTCATCTCCTTGGAGGCCTTCCAATGATTCCGACCCTGGCTATGCCTTCCAGTGCTGTTTCTGTGCCACCATGTGGTGAAAAGATCAAAGGTATGTGGCAGCATGCCAGGAGGTCCAGGAAGCCAAACTTTAAATGGTGCATACTCCTGGAGCCCTACTGCAGTTCAAGGAGGG... | TGACAGATAGTATCTTCATGAATTTTAGTGAAAAAAAACTTATGCTTGATTTCAAAGGTCTGTTTATATGTTCACATAGCAGTGAGGCTGGGCACAAAATAGGATGGAAATTACATTCAATCAGTAACAATAAAAAGAAAATGTATCTCATCTCCTTGGAGGCCTTCCAATGATTCCGACCCTGGCTATGCCTTCCAGTGCTGTTTCTGTGCCACCATGTGGTGAAAAGATCAAAGGTATGTGGCAGCATGCCAGGAGGTCCAGGAAGCCAAACTTTAAATGGTGCATACTCCTGGAGCCCTACTGCAGTTCAAGGAGGG... |
Task1_train_16407 | A mutation on Chromosome 11 affecting CTSC (cathepsin C) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Haim-Munk syndrome | TGACAGATAGTATCTTCATGAATTTTAGTGAAAAAAAACTTATGCTTGATTTCAAAGGTCTGTTTATATGTTCACATAGCAGTGAGGCTGGGCACAAAATAGGATGGAAATTACATTCAATCAGTAACAATAAAAAGAAAATGTATCTCATCTCCTTGGAGGCCTTCCAATGATTCCGACCCTGGCTATGCCTTCCAGTGCTGTTTCTGTGCCACCATGTGGTGAAAAGATCAAAGGTATGTGGCAGCATGCCAGGAGGTCCAGGAAGCCAAACTTTAAATGGTGCATACTCCTGGAGCCCTACTGCAGTTCAAGGAGGG... | TGACAGATAGTATCTTCATGAATTTTAGTGAAAAAAAACTTATGCTTGATTTCAAAGGTCTGTTTATATGTTCACATAGCAGTGAGGCTGGGCACAAAATAGGATGGAAATTACATTCAATCAGTAACAATAAAAAGAAAATGTATCTCATCTCCTTGGAGGCCTTCCAATGATTCCGACCCTGGCTATGCCTTCCAGTGCTGTTTCTGTGCCACCATGTGGTGAAAAGATCAAAGGTATGTGGCAGCATGCCAGGAGGTCCAGGAAGCCAAACTTTAAATGGTGCATACTCCTGGAGCCCTACTGCAGTTCAAGGAGGG... |
Task1_train_16408 | A sequence alteration has been identified in CTSC (cathepsin C) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Haim-Munk syndrome | ATTGTATTCTCTGAGAATTTGAGGCTATTTCAATGTATTAAGGAAAAATAACCTACCTATATAATTTTTCAAATTCTGCTAGCTCCCCATTGCTTTCCAATTCCTTACCCCTTAGTCACATGATCCTAAAGCAAAGTATGGCATTACAGGACTTATCCGTGGCCATTTAACAAATGTTAAGGAACTATATTAGATAGATGTAGATCCTAAGCTAGATCCAGCTATACTTTCAGAAAAATAATTTTTTTTTAAATTATCTAAATTTCTGACTAGACAGATTCAAAGTATTATGATATAATTTCCCAAACTAAGAAATATAC... | ATTGTATTCTCTGAGAATTTGAGGCTATTTCAATGTATTAAGGAAAAATAACCTACCTATATAATTTTTCAAATTCTGCTAGCTCCCCATTGCTTTCCAATTCCTTACCCCTTAGTCACATGATCCTAAAGCAAAGTATGGCATTACAGGACTTATCCGTGGCCATTTAACAAATGTTAAGGAACTATATTAGATAGATGTAGATCCTAAGCTAGATCCAGCTATACTTTCAGAAAAATAATTTTTTTTTAAATTATCTAAATTTCTGACTAGACAGATTCAAAGTATTATGATATAATTTCCCAAACTAAGAAATATAC... |
Task1_train_16409 | An alteration has been detected in CTSC (cathepsin C) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Periodontitis, aggressive 1 | ATTGTATTCTCTGAGAATTTGAGGCTATTTCAATGTATTAAGGAAAAATAACCTACCTATATAATTTTTCAAATTCTGCTAGCTCCCCATTGCTTTCCAATTCCTTACCCCTTAGTCACATGATCCTAAAGCAAAGTATGGCATTACAGGACTTATCCGTGGCCATTTAACAAATGTTAAGGAACTATATTAGATAGATGTAGATCCTAAGCTAGATCCAGCTATACTTTCAGAAAAATAATTTTTTTTTAAATTATCTAAATTTCTGACTAGACAGATTCAAAGTATTATGATATAATTTCCCAAACTAAGAAATATAC... | ATTGTATTCTCTGAGAATTTGAGGCTATTTCAATGTATTAAGGAAAAATAACCTACCTATATAATTTTTCAAATTCTGCTAGCTCCCCATTGCTTTCCAATTCCTTACCCCTTAGTCACATGATCCTAAAGCAAAGTATGGCATTACAGGACTTATCCGTGGCCATTTAACAAATGTTAAGGAACTATATTAGATAGATGTAGATCCTAAGCTAGATCCAGCTATACTTTCAGAAAAATAATTTTTTTTTAAATTATCTAAATTTCTGACTAGACAGATTCAAAGTATTATGATATAATTTCCCAAACTAAGAAATATAC... |
Task1_train_16410 | This variant lies on Chromosome 11 and affects the gene CTSC (cathepsin C). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Papillon-Lefèvre syndrome | ATTGTATTCTCTGAGAATTTGAGGCTATTTCAATGTATTAAGGAAAAATAACCTACCTATATAATTTTTCAAATTCTGCTAGCTCCCCATTGCTTTCCAATTCCTTACCCCTTAGTCACATGATCCTAAAGCAAAGTATGGCATTACAGGACTTATCCGTGGCCATTTAACAAATGTTAAGGAACTATATTAGATAGATGTAGATCCTAAGCTAGATCCAGCTATACTTTCAGAAAAATAATTTTTTTTTAAATTATCTAAATTTCTGACTAGACAGATTCAAAGTATTATGATATAATTTCCCAAACTAAGAAATATAC... | ATTGTATTCTCTGAGAATTTGAGGCTATTTCAATGTATTAAGGAAAAATAACCTACCTATATAATTTTTCAAATTCTGCTAGCTCCCCATTGCTTTCCAATTCCTTACCCCTTAGTCACATGATCCTAAAGCAAAGTATGGCATTACAGGACTTATCCGTGGCCATTTAACAAATGTTAAGGAACTATATTAGATAGATGTAGATCCTAAGCTAGATCCAGCTATACTTTCAGAAAAATAATTTTTTTTTAAATTATCTAAATTTCTGACTAGACAGATTCAAAGTATTATGATATAATTTCCCAAACTAAGAAATATAC... |
Task1_train_16411 | A genetic alteration is present in CTSC (cathepsin C) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Papillon-Lefèvre syndrome | ATTGTATTCTCTGAGAATTTGAGGCTATTTCAATGTATTAAGGAAAAATAACCTACCTATATAATTTTTCAAATTCTGCTAGCTCCCCATTGCTTTCCAATTCCTTACCCCTTAGTCACATGATCCTAAAGCAAAGTATGGCATTACAGGACTTATCCGTGGCCATTTAACAAATGTTAAGGAACTATATTAGATAGATGTAGATCCTAAGCTAGATCCAGCTATACTTTCAGAAAAATAATTTTTTTTTAAATTATCTAAATTTCTGACTAGACAGATTCAAAGTATTATGATATAATTTCCCAAACTAAGAAATATAC... | ATTGTATTCTCTGAGAATTTGAGGCTATTTCAATGTATTAAGGAAAAATAACCTACCTATATAATTTTTCAAATTCTGCTAGCTCCCCATTGCTTTCCAATTCCTTACCCCTTAGTCACATGATCCTAAAGCAAAGTATGGCATTACAGGACTTATCCGTGGCCATTTAACAAATGTTAAGGAACTATATTAGATAGATGTAGATCCTAAGCTAGATCCAGCTATACTTTCAGAAAAATAATTTTTTTTTAAATTATCTAAATTTCTGACTAGACAGATTCAAAGTATTATGATATAATTTCCCAAACTAAGAAATATAC... |
Task1_train_16412 | This mutation is located in gene CTSC, LOC130006572 (cathepsin C| ATAC-STARR-seq lymphoblastoid active region 5382) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Haim-Munk syndrome | AGTTGGAGGCTGCAGTGAGCTATGATTGCACAACTGCATTCCAACCTGGGCAACACAGTGAGACCTTGTCTCAAAAAAGAGAGATATGCTATGCAGCCCAGCAGGCAGGGAGACCCCCAAAACTACAGTACCTTTCCAGAGCATCCCAACACTGAAGAAATTTTTCCACTGAACAAAAGGAGAAATGGGGAATGTTGAAAATTACAGGCTTCCAGAAACGGAGAAAAGGCAAAATGCTAGTCAAAAGTGGGAAATGCAAGAATAAAAGGTATGACAACAAAAAGATAAATAAACAGACTATCAGATCCTAAGGAAGACAA... | AGTTGGAGGCTGCAGTGAGCTATGATTGCACAACTGCATTCCAACCTGGGCAACACAGTGAGACCTTGTCTCAAAAAAGAGAGATATGCTATGCAGCCCAGCAGGCAGGGAGACCCCCAAAACTACAGTACCTTTCCAGAGCATCCCAACACTGAAGAAATTTTTCCACTGAACAAAAGGAGAAATGGGGAATGTTGAAAATTACAGGCTTCCAGAAACGGAGAAAAGGCAAAATGCTAGTCAAAAGTGGGAAATGCAAGAATAAAAGGTATGACAACAAAAAGATAAATAAACAGACTATCAGATCCTAAGGAAGACAA... |
Task1_train_16413 | Gene CTSC, LOC130006572 (cathepsin C| ATAC-STARR-seq lymphoblastoid active region 5382) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Papillon-Lefèvre syndrome | AGTTGGAGGCTGCAGTGAGCTATGATTGCACAACTGCATTCCAACCTGGGCAACACAGTGAGACCTTGTCTCAAAAAAGAGAGATATGCTATGCAGCCCAGCAGGCAGGGAGACCCCCAAAACTACAGTACCTTTCCAGAGCATCCCAACACTGAAGAAATTTTTCCACTGAACAAAAGGAGAAATGGGGAATGTTGAAAATTACAGGCTTCCAGAAACGGAGAAAAGGCAAAATGCTAGTCAAAAGTGGGAAATGCAAGAATAAAAGGTATGACAACAAAAAGATAAATAAACAGACTATCAGATCCTAAGGAAGACAA... | AGTTGGAGGCTGCAGTGAGCTATGATTGCACAACTGCATTCCAACCTGGGCAACACAGTGAGACCTTGTCTCAAAAAAGAGAGATATGCTATGCAGCCCAGCAGGCAGGGAGACCCCCAAAACTACAGTACCTTTCCAGAGCATCCCAACACTGAAGAAATTTTTCCACTGAACAAAAGGAGAAATGGGGAATGTTGAAAATTACAGGCTTCCAGAAACGGAGAAAAGGCAAAATGCTAGTCAAAAGTGGGAAATGCAAGAATAAAAGGTATGACAACAAAAAGATAAATAAACAGACTATCAGATCCTAAGGAAGACAA... |
Task1_train_16414 | Gene CTSC, LOC130006572 (cathepsin C| ATAC-STARR-seq lymphoblastoid active region 5382) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Periodontitis, aggressive 1 | AGTTGGAGGCTGCAGTGAGCTATGATTGCACAACTGCATTCCAACCTGGGCAACACAGTGAGACCTTGTCTCAAAAAAGAGAGATATGCTATGCAGCCCAGCAGGCAGGGAGACCCCCAAAACTACAGTACCTTTCCAGAGCATCCCAACACTGAAGAAATTTTTCCACTGAACAAAAGGAGAAATGGGGAATGTTGAAAATTACAGGCTTCCAGAAACGGAGAAAAGGCAAAATGCTAGTCAAAAGTGGGAAATGCAAGAATAAAAGGTATGACAACAAAAAGATAAATAAACAGACTATCAGATCCTAAGGAAGACAA... | AGTTGGAGGCTGCAGTGAGCTATGATTGCACAACTGCATTCCAACCTGGGCAACACAGTGAGACCTTGTCTCAAAAAAGAGAGATATGCTATGCAGCCCAGCAGGCAGGGAGACCCCCAAAACTACAGTACCTTTCCAGAGCATCCCAACACTGAAGAAATTTTTCCACTGAACAAAAGGAGAAATGGGGAATGTTGAAAATTACAGGCTTCCAGAAACGGAGAAAAGGCAAAATGCTAGTCAAAAGTGGGAAATGCAAGAATAAAAGGTATGACAACAAAAAGATAAATAAACAGACTATCAGATCCTAAGGAAGACAA... |
Task1_train_16415 | Consider this mutation in TYR (tyrosinase) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TGGTTACAAGTAATGCAGACCCAAGGCTCCCCAGGGACAAGAAGTCTTGTGTTAATCTCTTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATC... | TGGTTACAAGTAATGCAGACCCAAGGCTCCCCAGGGACAAGAAGTCTTGTGTTAATCTCTTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATC... |
Task1_train_16416 | A variant affecting Chromosome 11, within the gene TYR (tyrosinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGAT... | TTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGAT... |
Task1_train_16417 | A variant affecting Chromosome 11, within the gene TYR (tyrosinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Oculocutaneous albinism type 1B | TTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGAT... | TTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGAT... |
Task1_train_16418 | This variant affects the gene TYR (tyrosinase) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Oculocutaneous albinism type 1A | TTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGAT... | TTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGAT... |
Task1_train_16419 | This mutation is located in gene TYR (tyrosinase) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGAT... | TTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGAT... |
Task1_train_16420 | Given a variant located on Chromosome 11 and affecting TYR (tyrosinase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Oculocutaneous albinism type 1A | TTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGAT... | TTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGAT... |
Task1_train_16421 | A mutation on Chromosome 11 affecting TYR (tyrosinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Oculocutaneous albinism type 1B | TTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGAT... | TTTGTGGCTCTGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGAT... |
Task1_train_16422 | Here’s a variant in TYR (tyrosinase) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Oculocutaneous albinism | TGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAG... | TGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAG... |
Task1_train_16423 | A variant found in Chromosome 11 affects TYR (tyrosinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Oculocutaneous albinism type 1A | TGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAG... | TGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAG... |
Task1_train_16424 | Consider this mutation in TYR (tyrosinase) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Oculocutaneous albinism type 1B | TGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAG... | TGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAG... |
Task1_train_16425 | Given a variant located on Chromosome 11 and affecting TYR (tyrosinase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAG... | TGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAG... |
Task1_train_16426 | A genetic alteration is present in TYR (tyrosinase) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAG... | TGAAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAG... |
Task1_train_16427 | A change on Chromosome 11 affects gene TYR (tyrosinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | AGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTA... | AGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTA... |
Task1_train_16428 | This sequence change occurs on Chromosome 11, altering TYR (tyrosinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | ACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAG... | ACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAG... |
Task1_train_16429 | The following genetic variant occurs in TYR (tyrosinase) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Oculocutaneous albinism type 1A | ATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAG... | ATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAG... |
Task1_train_16430 | The gene TYR (tyrosinase) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | TGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGG... | TGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGG... |
Task1_train_16431 | With a mutation on Chromosome 11 in gene TYR (tyrosinase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Oculocutaneous albinism type 1B | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16432 | Gene TYR (tyrosinase), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Oculocutaneous albinism type 1A | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16433 | Consider this mutation in TYR (tyrosinase) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16434 | The variant affects gene TYR (tyrosinase), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16435 | This alteration occurs within gene TYR (tyrosinase) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Oculocutaneous albinism | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16436 | A mutation on Chromosome 11 affecting TYR (tyrosinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Oculocutaneous albinism type 1B | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16437 | This sequence change occurs on Chromosome 11, altering TYR (tyrosinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Oculocutaneous albinism type 1A | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16438 | Here is a genetic alteration in TYR (tyrosinase) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Oculocutaneous albinism type 1B | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16439 | A change on Chromosome 11 affects gene TYR (tyrosinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ocular albinism with congenital sensorineural hearing loss | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16440 | A variant has been detected on Chromosome 11 in TYR (tyrosinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Oculocutaneous albinism type 1A | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16441 | This variant lies on Chromosome 11 and affects the gene TYR (tyrosinase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16442 | This alteration in TYR (tyrosinase) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Oculocutaneous albinism type 1B | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16443 | This variant impacts the gene TYR (tyrosinase) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Oculocutaneous albinism type 1A | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... | TTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACT... |
Task1_train_16444 | This is a variant in TYR (tyrosinase), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Oculocutaneous albinism type 1A | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... |
Task1_train_16445 | This mutation occurs in TYR (tyrosinase) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Oculocutaneous albinism type 1B | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... |
Task1_train_16446 | Given this context: Chromosome 11, gene TYR (tyrosinase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Oculocutaneous albinism type 1A | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... |
Task1_train_16447 | Here is a genetic alteration in TYR (tyrosinase) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Oculocutaneous albinism type 1B | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... |
Task1_train_16448 | A variant was discovered in gene TYR (tyrosinase), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... |
Task1_train_16449 | A genomic change on Chromosome 11 affects TYR (tyrosinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Oculocutaneous albinism type 1A | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... |
Task1_train_16450 | The gene TYR (tyrosinase), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... |
Task1_train_16451 | This is a variant in TYR (tyrosinase), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Oculocutaneous albinism type 1A | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... |
Task1_train_16452 | Mutation context: Chromosome 11, Gene TYR (tyrosinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Oculocutaneous albinism | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... |
Task1_train_16453 | A variant found in Chromosome 11 affects TYR (tyrosinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... |
Task1_train_16454 | The gene TYR (tyrosinase) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Oculocutaneous albinism type 1A | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... |
Task1_train_16455 | Given a variant located on Chromosome 11 and affecting TYR (tyrosinase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Oculocutaneous albinism type 1B | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... |
Task1_train_16456 | A mutation found in TYR (tyrosinase) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; See cases | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... |
Task1_train_16457 | Located on Chromosome 11, this mutation impacts TYR (tyrosinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Albinism or congenital nystagmus | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... | GTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAA... |
Task1_train_16458 | A variant on Chromosome 11 in gene TYR (tyrosinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... |
Task1_train_16459 | With a mutation on Chromosome 11 in gene TYR (tyrosinase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Oculocutaneous albinism type 1A | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... |
Task1_train_16460 | Given a variant located on Chromosome 11 and affecting TYR (tyrosinase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Oculocutaneous albinism | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... |
Task1_train_16461 | This is a variant in TYR (tyrosinase), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Oculocutaneous albinism type 1B | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... |
Task1_train_16462 | A mutation in TYR (tyrosinase), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Oculocutaneous albinism type 1A | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... |
Task1_train_16463 | This variant lies on Chromosome 11 and affects the gene TYR (tyrosinase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Oculocutaneous albinism type 1B | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... |
Task1_train_16464 | This alteration in TYR (tyrosinase) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... |
Task1_train_16465 | Here is a genetic alteration in TYR (tyrosinase) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Oculocutaneous albinism type 1 | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... |
Task1_train_16466 | Assess the clinical impact of this variant on gene TYR (tyrosinase), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; TYR-related disorder | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... |
Task1_train_16467 | The gene TYR (tyrosinase), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Inborn genetic diseases | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... | CGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCC... |
Task1_train_16468 | Here is a mutation in TYR (tyrosinase) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Fair hair | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... |
Task1_train_16469 | An alteration has been detected in TYR (tyrosinase) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Strabismus | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... |
Task1_train_16470 | Given this variant in gene TYR (tyrosinase) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Abnormal optic nerve morphology | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... |
Task1_train_16471 | Here’s a variant in TYR (tyrosinase) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Horizontal nystagmus | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... |
Task1_train_16472 | This alteration occurs within gene TYR (tyrosinase) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Abnormal retinal morphology | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... |
Task1_train_16473 | A change on Chromosome 11 affects gene TYR (tyrosinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hypopigmentation of the skin | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... |
Task1_train_16474 | The variant affects gene TYR (tyrosinase), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Albinism | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... |
Task1_train_16475 | A mutation in TYR (tyrosinase), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Ocular albinism | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... |
Task1_train_16476 | Consider a variant on Chromosome 11 in gene TYR (tyrosinase). Determine its clinical classification and disease relevance. | Pathogenic; Oculocutaneous albinism type 1A | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... | AATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTT... |
Task1_train_16477 | This variant affects gene TYR (tyrosinase) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | CAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTT... | CAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTT... |
Task1_train_16478 | Chromosome 11 houses a mutation in gene TYR (tyrosinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGA... | TAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGA... |
Task1_train_16479 | The gene TYR (tyrosinase) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | AAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATAT... | AAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATAT... |
Task1_train_16480 | Given this variant in gene TYR (tyrosinase) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Oculocutaneous albinism type 1A | CAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAAC... | CAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAAC... |
Task1_train_16481 | Gene TYR (tyrosinase) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Oculocutaneous albinism type 1B | CAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAAC... | CAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAAC... |
Task1_train_16482 | A variant has been detected on Chromosome 11 in TYR (tyrosinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | CAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAAC... | CAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAAC... |
Task1_train_16483 | The gene TYR (tyrosinase), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; TYR-related disorder | CAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAAC... | CAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAAC... |
Task1_train_16484 | Here is a mutation in TYR (tyrosinase) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not specified | CAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAAC... | CAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAAC... |
Task1_train_16485 | With a mutation on Chromosome 11 in gene TYR (tyrosinase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Oculocutaneous albinism type 1A | TATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTC... | TATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTC... |
Task1_train_16486 | The gene TYR (tyrosinase), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Oculocutaneous albinism type 1B | TATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTC... | TATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTC... |
Task1_train_16487 | Located on Chromosome 11, this mutation impacts TYR (tyrosinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTC... | TATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTC... |
Task1_train_16488 | A change on Chromosome 11 affects gene TYR (tyrosinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Oculocutaneous albinism | TATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTC... | TATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTC... |
Task1_train_16489 | This alteration in TYR (tyrosinase) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTC... | TATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTC... |
Task1_train_16490 | Mutation context: Chromosome 11, Gene TYR (tyrosinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Oculocutaneous albinism type 1A | GGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAG... | GGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAG... |
Task1_train_16491 | Here is a variant affecting TYR (tyrosinase) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Oculocutaneous albinism type 1B | GGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAG... | GGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAG... |
Task1_train_16492 | Consider this mutation in TYR (tyrosinase) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | GGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAG... | GGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAG... |
Task1_train_16493 | Gene TYR (tyrosinase) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Oculocutaneous albinism | ACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATT... | ACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATT... |
Task1_train_16494 | A mutation on Chromosome 11 affecting TYR (tyrosinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Oculocutaneous albinism type 1A | ACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATT... | ACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATT... |
Task1_train_16495 | Gene TYR (tyrosinase) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Oculocutaneous albinism type 1B | ACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATT... | ACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATT... |
Task1_train_16496 | This sequence change occurs on Chromosome 11, altering TYR (tyrosinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATT... | ACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATT... |
Task1_train_16497 | Given this variant in gene TYR (tyrosinase) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTG... | CCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTG... |
Task1_train_16498 | Given this context: Chromosome 11, gene TYR (tyrosinase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Oculocutaneous albinism type 1A | CTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAA... | CTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAA... |
Task1_train_16499 | This mutation occurs in TYR (tyrosinase) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Oculocutaneous albinism type 1B | CTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAA... | CTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAA... |
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