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_16500 | 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 | CTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAA... | CTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAA... |
Task1_train_16501 | A sequence alteration has been identified in TYR (tyrosinase) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Oculocutaneous albinism type 1A | CTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAA... | CTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAA... |
Task1_train_16502 | A mutation on Chromosome 11 affecting TYR (tyrosinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | CTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAA... | CTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAA... |
Task1_train_16503 | This alteration occurs within gene TYR (tyrosinase) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | CCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAATATATTTCTCCTTTTTCATTCACTCACTAATTGAGAATGTCTTTGCACAAAACACATTGC... | CCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAATATATTTCTCCTTTTTCATTCACTCACTAATTGAGAATGTCTTTGCACAAAACACATTGC... |
Task1_train_16504 | 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 | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... |
Task1_train_16505 | A genomic change on Chromosome 11 affects TYR (tyrosinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... |
Task1_train_16506 | A variant has been detected on Chromosome 11 in TYR (tyrosinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; TYR-related disorder | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... |
Task1_train_16507 | This sequence variant lies in TYR (tyrosinase) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... |
Task1_train_16508 | Here’s a variant in TYR (tyrosinase) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Oculocutaneous albinism type 1A | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... |
Task1_train_16509 | 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; Oculocutaneous albinism type 1B | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... |
Task1_train_16510 | 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 | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... | CTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTT... |
Task1_train_16511 | Consider a variant on Chromosome 11 in gene TYR (tyrosinase). Determine its clinical classification and disease relevance. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... |
Task1_train_16512 | This sequence variant lies in TYR (tyrosinase) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Oculocutaneous albinism type 1A | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... |
Task1_train_16513 | 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 | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... |
Task1_train_16514 | 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 | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... |
Task1_train_16515 | 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 1B | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... |
Task1_train_16516 | Here’s a variant in TYR (tyrosinase) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; See cases | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... |
Task1_train_16517 | Consider a variant on Chromosome 11 in gene TYR (tyrosinase). Determine its clinical classification and disease relevance. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... |
Task1_train_16518 | 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 | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... |
Task1_train_16519 | 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 1B | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... | TCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTT... |
Task1_train_16520 | 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; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ATAGTACAGTAGGAAAATTATAGTTAACAACAATTTATTCTATTGTATATTTTTAAATAGCTAGAATAGAAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTT... | ATAGTACAGTAGGAAAATTATAGTTAACAACAATTTATTCTATTGTATATTTTTAAATAGCTAGAATAGAAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTT... |
Task1_train_16521 | An alteration has been detected in TYR (tyrosinase) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Oculocutaneous albinism type 1A | ATAGTACAGTAGGAAAATTATAGTTAACAACAATTTATTCTATTGTATATTTTTAAATAGCTAGAATAGAAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTT... | ATAGTACAGTAGGAAAATTATAGTTAACAACAATTTATTCTATTGTATATTTTTAAATAGCTAGAATAGAAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTT... |
Task1_train_16522 | 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; Oculocutaneous albinism type 1A | AAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCT... | AAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCT... |
Task1_train_16523 | 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; Oculocutaneous albinism type 1B | AAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCT... | AAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCT... |
Task1_train_16524 | Here’s a variant in TYR (tyrosinase) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | AAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCT... | AAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCT... |
Task1_train_16525 | 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; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | AAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCT... | AAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCT... |
Task1_train_16526 | 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 | TTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGT... | TTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGT... |
Task1_train_16527 | 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 | TTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGT... | TTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGT... |
Task1_train_16528 | Mutation context: Chromosome 11, Gene TYR (tyrosinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGT... | TTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGT... |
Task1_train_16529 | 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; Oculocutaneous albinism type 1A | TTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGT... | TTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGT... |
Task1_train_16530 | 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 | TGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGA... | TGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGA... |
Task1_train_16531 | 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 1A | TGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGA... | TGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGA... |
Task1_train_16532 | 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 | TGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGA... | TGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGA... |
Task1_train_16533 | 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; Oculocutaneous albinism | TGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGA... | TGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGA... |
Task1_train_16534 | 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 | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... |
Task1_train_16535 | 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; Oculocutaneous albinism type 1B | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... |
Task1_train_16536 | 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 | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... |
Task1_train_16537 | 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 | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... |
Task1_train_16538 | This genomic variant is located on Chromosome 11, within the TYR (tyrosinase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Oculocutaneous albinism type 1A | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... |
Task1_train_16539 | 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 1B | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... |
Task1_train_16540 | 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; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... |
Task1_train_16541 | Here’s a variant in TYR (tyrosinase) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Oculocutaneous albinism type 1A | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... |
Task1_train_16542 | 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 1B | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... |
Task1_train_16543 | Gene TYR (tyrosinase), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; TYR-related disorder | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... | ATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGAT... |
Task1_train_16544 | 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 | TCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAAC... | TCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAAC... |
Task1_train_16545 | 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; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | TCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAAC... | TCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAAC... |
Task1_train_16546 | 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 | TCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAAC... | TCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAAC... |
Task1_train_16547 | Here’s a variant in TYR (tyrosinase) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Oculocutaneous albinism type 1B | TCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAAC... | TCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAAC... |
Task1_train_16548 | 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; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16549 | This variant affects gene TYR (tyrosinase) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Inborn genetic diseases | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16550 | Gene TYR (tyrosinase), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Oculocutaneous albinism type 1B | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16551 | 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; Ocular albinism with congenital sensorineural hearing loss | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16552 | 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 | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16553 | 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; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16554 | A sequence alteration has been identified in TYR (tyrosinase) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Oculocutaneous albinism | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16555 | 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 | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16556 | 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 | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16557 | This mutation is located in gene TYR (tyrosinase) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Oculocutaneous albinism type 1B | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16558 | A sequence alteration has been identified in TYR (tyrosinase) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Oculocutaneous albinism type 1A | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16559 | An alteration has been detected in TYR (tyrosinase) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16560 | This genomic variant is located on Chromosome 11, within the TYR (tyrosinase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Oculocutaneous albinism type 1A | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... | CGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACC... |
Task1_train_16561 | Gene TYR (tyrosinase), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Oculocutaneous albinism | TACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACCATTGTATTTAGGAGCATAAGT... | TACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACCATTGTATTTAGGAGCATAAGT... |
Task1_train_16562 | 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 | ACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGT... | ACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGT... |
Task1_train_16563 | 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 | ACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGT... | ACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGT... |
Task1_train_16564 | This gene mutation involves TYR (tyrosinase) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGT... | ACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGT... |
Task1_train_16565 | 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 | ACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGT... | ACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGT... |
Task1_train_16566 | The gene TYR (tyrosinase) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Oculocutaneous albinism type 1B | ACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGT... | ACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGT... |
Task1_train_16567 | 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; Oculocutaneous albinism type 1 | ACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGT... | ACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGT... |
Task1_train_16568 | 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 | GGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAG... | GGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAG... |
Task1_train_16569 | A variant was discovered on Chromosome 11, affecting TYR (tyrosinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Oculocutaneous albinism type 1B | GGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAG... | GGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAG... |
Task1_train_16570 | 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; Oculocutaneous albinism type 1A | GGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAG... | GGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAG... |
Task1_train_16571 | 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; Oculocutaneous albinism type 1B | GGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAG... | GGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAG... |
Task1_train_16572 | 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; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... |
Task1_train_16573 | 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 | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... |
Task1_train_16574 | 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 | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... |
Task1_train_16575 | 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; Oculocutaneous albinism | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... |
Task1_train_16576 | 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; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... |
Task1_train_16577 | Consider this mutation in TYR (tyrosinase) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Oculocutaneous albinism type 1A | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... |
Task1_train_16578 | 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; Oculocutaneous albinism type 1B | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... | ACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTA... |
Task1_train_16579 | 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 | GGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTATCAGTGGACT... | GGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCAGTAAATATTCGTTTAATAATTGAACTAATTTAGAAAGCATTTGGTATGCATGGACCAGATTTTTAGTGTTTATCAGTGGACT... |
Task1_train_16580 | This mutation is located in gene HEPHL1 (hephaestin like 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pili torti-developmental delay-neurological abnormalities syndrome | CAGTTGTAATGCATATCCTTTACAAAATGGGAGTGATGATCTCAAATATTGCAGAAAACTACTAATTGTGATTACTTAAGACTCACCTGCCCAAATAATTCCTCTTACTCTGTATTTATTCTTTTGAAGTGAAAATGTCCAACAAAATGAAATGAATTACATAAGCAAACATAGATTACATGTATCATAAAAAGAAGCCTGTCCAGGCACAATGGCTCATGCCTATAATCCCAGCACTTTGAGAAGCAGGTGTGGGAGGATTGCTTGAGGCCAGAAGTTCAAAACCAGCCTGGGCAACATAGGTAGATCCGTTATCTACA... | CAGTTGTAATGCATATCCTTTACAAAATGGGAGTGATGATCTCAAATATTGCAGAAAACTACTAATTGTGATTACTTAAGACTCACCTGCCCAAATAATTCCTCTTACTCTGTATTTATTCTTTTGAAGTGAAAATGTCCAACAAAATGAAATGAATTACATAAGCAAACATAGATTACATGTATCATAAAAAGAAGCCTGTCCAGGCACAATGGCTCATGCCTATAATCCCAGCACTTTGAGAAGCAGGTGTGGGAGGATTGCTTGAGGCCAGAAGTTCAAAACCAGCCTGGGCAACATAGGTAGATCCGTTATCTACA... |
Task1_train_16581 | An alteration has been detected in HEPHL1 (hephaestin like 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Pili torti-developmental delay-neurological abnormalities syndrome | CAATCCATGAACATGGTATATCTATCGTTTAGCTCTTCTTTGATTTCTTTCATCAGCATTTTGTAGTTTTCAATATAGAGATCTTGCATATACTTTGTTTTATTTATTTATAACTAAGTATATAAAAGGCTTTGGTAATAGTGTAAATGATAGTGTTTTTATTTTGATTTATAGTTGTTTATTGCCAATATTTAGAAATATAATTGATATTTGCATGTTGACCTTGCATCCTGCATCTTTGCTAAACTCACTTTAGTTCCAATAGTTTTCCTATAGATTTTAGGGGGATTTTCTATGCAGACAATCATGTTGTCTGTGAA... | CAATCCATGAACATGGTATATCTATCGTTTAGCTCTTCTTTGATTTCTTTCATCAGCATTTTGTAGTTTTCAATATAGAGATCTTGCATATACTTTGTTTTATTTATTTATAACTAAGTATATAAAAGGCTTTGGTAATAGTGTAAATGATAGTGTTTTTATTTTGATTTATAGTTGTTTATTGCCAATATTTAGAAATATAATTGATATTTGCATGTTGACCTTGCATCCTGCATCTTTGCTAAACTCACTTTAGTTCCAATAGTTTTCCTATAGATTTTAGGGGGATTTTCTATGCAGACAATCATGTTGTCTGTGAA... |
Task1_train_16582 | A mutation in PANX1 (pannexin 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Oocyte maturation defect 7 | TTAACTGGGATTTTGTTCAGGGAACGGGAGTAATTTTATTTTTTTATTTTCCTTCTGTGATTAGAACGTACACACCATGTGTCACCATGCAGTTGCTGATTACTTCAAATTAATACCTATGGAAGAAAAAAAAATAGGTAGTTACCTGTGACAGGTATTACCTGGACAGGGGAATTTAGCCATAAGAAGTAGTTATTAGGTAATGAGCCCAATTTCCACAATACACATTTGTCTCAAGATGTGAGAAAATGAGAGCATCACTTGGCGCCATAGGTTACTGCATGGGGGGTTTGTTAAGCCCATGATTTGTTCTCTTGTTT... | TTAACTGGGATTTTGTTCAGGGAACGGGAGTAATTTTATTTTTTTATTTTCCTTCTGTGATTAGAACGTACACACCATGTGTCACCATGCAGTTGCTGATTACTTCAAATTAATACCTATGGAAGAAAAAAAAATAGGTAGTTACCTGTGACAGGTATTACCTGGACAGGGGAATTTAGCCATAAGAAGTAGTTATTAGGTAATGAGCCCAATTTCCACAATACACATTTGTCTCAAGATGTGAGAAAATGAGAGCATCACTTGGCGCCATAGGTTACTGCATGGGGGGTTTGTTAAGCCCATGATTTGTTCTCTTGTTT... |
Task1_train_16583 | Gene PANX1 (pannexin 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Oocyte maturation defect 7 | CTGGGATTTTGTTCAGGGAACGGGAGTAATTTTATTTTTTTATTTTCCTTCTGTGATTAGAACGTACACACCATGTGTCACCATGCAGTTGCTGATTACTTCAAATTAATACCTATGGAAGAAAAAAAAATAGGTAGTTACCTGTGACAGGTATTACCTGGACAGGGGAATTTAGCCATAAGAAGTAGTTATTAGGTAATGAGCCCAATTTCCACAATACACATTTGTCTCAAGATGTGAGAAAATGAGAGCATCACTTGGCGCCATAGGTTACTGCATGGGGGGTTTGTTAAGCCCATGATTTGTTCTCTTGTTTTTCA... | CTGGGATTTTGTTCAGGGAACGGGAGTAATTTTATTTTTTTATTTTCCTTCTGTGATTAGAACGTACACACCATGTGTCACCATGCAGTTGCTGATTACTTCAAATTAATACCTATGGAAGAAAAAAAAATAGGTAGTTACCTGTGACAGGTATTACCTGGACAGGGGAATTTAGCCATAAGAAGTAGTTATTAGGTAATGAGCCCAATTTCCACAATACACATTTGTCTCAAGATGTGAGAAAATGAGAGCATCACTTGGCGCCATAGGTTACTGCATGGGGGGTTTGTTAAGCCCATGATTTGTTCTCTTGTTTTTCA... |
Task1_train_16584 | The gene MRE11 (MRE11 homolog, double strand break repair nuclease), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Ataxia-telangiectasia-like disorder | CTAAAGGAAAATGGGATCGAGAGTTTTGTTTGTTTCTTAAGCTGAAAGAAATAACAGCATGTTTGTTATGATTCAGTAGAGGAAAAATACAAGAATAACAATATTTTAAAAGATGAGACAGTATGTAATCGTGCCCTAGGTGATAAGTAGCATACCAAAGGTGCTAAGCCATTCACAGAAGAGAAATGAGAGTCAGAGTGGGAACACTGAACAGGCACTATGTGTCAGACAGTATTCTAAGGATTTTACATGGATTAATTCTTCTAATCCTTACAACAACCTTGAAGGAGGGCCTATTATCATCACCATTTTATCCTCAG... | CTAAAGGAAAATGGGATCGAGAGTTTTGTTTGTTTCTTAAGCTGAAAGAAATAACAGCATGTTTGTTATGATTCAGTAGAGGAAAAATACAAGAATAACAATATTTTAAAAGATGAGACAGTATGTAATCGTGCCCTAGGTGATAAGTAGCATACCAAAGGTGCTAAGCCATTCACAGAAGAGAAATGAGAGTCAGAGTGGGAACACTGAACAGGCACTATGTGTCAGACAGTATTCTAAGGATTTTACATGGATTAATTCTTCTAATCCTTACAACAACCTTGAAGGAGGGCCTATTATCATCACCATTTTATCCTCAG... |
Task1_train_16585 | This variant lies on Chromosome 11 and affects the gene TRPC6 (transient receptor potential cation channel subfamily C member 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Inborn genetic diseases | GGTAGGATTTAAAGCCAGTGGTCTTGAGACTTTTCCCATGCTTATGACCATCTTTTGGCGATGTGCCTGTAATGAAGCTCTTATCAGAATTTTAAAAGCTTTCTTAAAATGCGTTTAATTTCCTTTTTCATCTTCCAACTTAGAAGAAATGCCAATTATTCTAAGTTGGAAGATGAAATTCGAAGAGATGTCAATTCAGTTGCACTTTGATGAAAATCTGACTTCAGGACATTAGTTTGAACCATAAGAGCCACCAGGAGGGTAGTGCCTTTTGCTGAGGAACCCACAGTCATGCCTGTTGAGTTTCCCAAAACTTATAT... | GGTAGGATTTAAAGCCAGTGGTCTTGAGACTTTTCCCATGCTTATGACCATCTTTTGGCGATGTGCCTGTAATGAAGCTCTTATCAGAATTTTAAAAGCTTTCTTAAAATGCGTTTAATTTCCTTTTTCATCTTCCAACTTAGAAGAAATGCCAATTATTCTAAGTTGGAAGATGAAATTCGAAGAGATGTCAATTCAGTTGCACTTTGATGAAAATCTGACTTCAGGACATTAGTTTGAACCATAAGAGCCACCAGGAGGGTAGTGCCTTTTGCTGAGGAACCCACAGTCATGCCTGTTGAGTTTCCCAAAACTTATAT... |
Task1_train_16586 | Gene TRPC6 (transient receptor potential cation channel subfamily C member 6), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; TRPC6-related disorder | GATTTAAAGCCAGTGGTCTTGAGACTTTTCCCATGCTTATGACCATCTTTTGGCGATGTGCCTGTAATGAAGCTCTTATCAGAATTTTAAAAGCTTTCTTAAAATGCGTTTAATTTCCTTTTTCATCTTCCAACTTAGAAGAAATGCCAATTATTCTAAGTTGGAAGATGAAATTCGAAGAGATGTCAATTCAGTTGCACTTTGATGAAAATCTGACTTCAGGACATTAGTTTGAACCATAAGAGCCACCAGGAGGGTAGTGCCTTTTGCTGAGGAACCCACAGTCATGCCTGTTGAGTTTCCCAAAACTTATATCTTGT... | GATTTAAAGCCAGTGGTCTTGAGACTTTTCCCATGCTTATGACCATCTTTTGGCGATGTGCCTGTAATGAAGCTCTTATCAGAATTTTAAAAGCTTTCTTAAAATGCGTTTAATTTCCTTTTTCATCTTCCAACTTAGAAGAAATGCCAATTATTCTAAGTTGGAAGATGAAATTCGAAGAGATGTCAATTCAGTTGCACTTTGATGAAAATCTGACTTCAGGACATTAGTTTGAACCATAAGAGCCACCAGGAGGGTAGTGCCTTTTGCTGAGGAACCCACAGTCATGCCTGTTGAGTTTCCCAAAACTTATATCTTGT... |
Task1_train_16587 | Located on Chromosome 11, this mutation impacts TRPC6 (transient receptor potential cation channel subfamily C member 6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Focal segmental glomerulosclerosis 2 | GATTTAAAGCCAGTGGTCTTGAGACTTTTCCCATGCTTATGACCATCTTTTGGCGATGTGCCTGTAATGAAGCTCTTATCAGAATTTTAAAAGCTTTCTTAAAATGCGTTTAATTTCCTTTTTCATCTTCCAACTTAGAAGAAATGCCAATTATTCTAAGTTGGAAGATGAAATTCGAAGAGATGTCAATTCAGTTGCACTTTGATGAAAATCTGACTTCAGGACATTAGTTTGAACCATAAGAGCCACCAGGAGGGTAGTGCCTTTTGCTGAGGAACCCACAGTCATGCCTGTTGAGTTTCCCAAAACTTATATCTTGT... | GATTTAAAGCCAGTGGTCTTGAGACTTTTCCCATGCTTATGACCATCTTTTGGCGATGTGCCTGTAATGAAGCTCTTATCAGAATTTTAAAAGCTTTCTTAAAATGCGTTTAATTTCCTTTTTCATCTTCCAACTTAGAAGAAATGCCAATTATTCTAAGTTGGAAGATGAAATTCGAAGAGATGTCAATTCAGTTGCACTTTGATGAAAATCTGACTTCAGGACATTAGTTTGAACCATAAGAGCCACCAGGAGGGTAGTGCCTTTTGCTGAGGAACCCACAGTCATGCCTGTTGAGTTTCCCAAAACTTATATCTTGT... |
Task1_train_16588 | This is a variant in TRPC6 (transient receptor potential cation channel subfamily C member 6), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Focal segmental glomerulosclerosis 2 | ATTTAAAGCCAGTGGTCTTGAGACTTTTCCCATGCTTATGACCATCTTTTGGCGATGTGCCTGTAATGAAGCTCTTATCAGAATTTTAAAAGCTTTCTTAAAATGCGTTTAATTTCCTTTTTCATCTTCCAACTTAGAAGAAATGCCAATTATTCTAAGTTGGAAGATGAAATTCGAAGAGATGTCAATTCAGTTGCACTTTGATGAAAATCTGACTTCAGGACATTAGTTTGAACCATAAGAGCCACCAGGAGGGTAGTGCCTTTTGCTGAGGAACCCACAGTCATGCCTGTTGAGTTTCCCAAAACTTATATCTTGTC... | ATTTAAAGCCAGTGGTCTTGAGACTTTTCCCATGCTTATGACCATCTTTTGGCGATGTGCCTGTAATGAAGCTCTTATCAGAATTTTAAAAGCTTTCTTAAAATGCGTTTAATTTCCTTTTTCATCTTCCAACTTAGAAGAAATGCCAATTATTCTAAGTTGGAAGATGAAATTCGAAGAGATGTCAATTCAGTTGCACTTTGATGAAAATCTGACTTCAGGACATTAGTTTGAACCATAAGAGCCACCAGGAGGGTAGTGCCTTTTGCTGAGGAACCCACAGTCATGCCTGTTGAGTTTCCCAAAACTTATATCTTGTC... |
Task1_train_16589 | This alteration occurs within gene TRPC6 (transient receptor potential cation channel subfamily C member 6) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Focal segmental glomerulosclerosis 2 | CAGAAAGAAGGGTGTGATGAACAAACAGAAGAATGTCCAGATCTTTACGTCTTCATCATCGTGTGGAGGCCTCAACATTTTGCAATGCATTTAGGGACCATGAAGAATTTACATCCTGGTTAAATGTGATTCTTCCCACCTTTCAGCCACTAGCCCCCTCCTCACTCCATAAGGTCATGCCTAATATGATAGTTACTACACACAGATCTTTTCTATCACATTGGATTATAAACCAATTGAGGACAGGATTGCTGACTGAATTGTCTTTGTATTTTGTACTACCTCGCCATCCTCATCCTCAACTGTCCCCAGTAAAAAAG... | CAGAAAGAAGGGTGTGATGAACAAACAGAAGAATGTCCAGATCTTTACGTCTTCATCATCGTGTGGAGGCCTCAACATTTTGCAATGCATTTAGGGACCATGAAGAATTTACATCCTGGTTAAATGTGATTCTTCCCACCTTTCAGCCACTAGCCCCCTCCTCACTCCATAAGGTCATGCCTAATATGATAGTTACTACACACAGATCTTTTCTATCACATTGGATTATAAACCAATTGAGGACAGGATTGCTGACTGAATTGTCTTTGTATTTTGTACTACCTCGCCATCCTCATCCTCAACTGTCCCCAGTAAAAAAG... |
Task1_train_16590 | Here is a variant affecting TRPC6 (transient receptor potential cation channel subfamily C member 6) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Focal segmental glomerulosclerosis 2 | TAATTAATATTAATCAGAGTTCAAAATGCTTTAATTTGAATCAGGTGAAAGTCTCTGTGTCCTAGGAGTCAAGCGAAAAGTAGGTAAGAATCTGAGACAGGGTTAGAAGGACCATTTACTTGTCTTGCCCTGTTAGCTGCCAGGTAGCTGGAGGAAAAGCACCTTCCTCTACCTTGGGAGCCAAGCACATACTGAGCGTTTCAGTAACCATTTTCCTCCTTCTAGCCTTTCTGGATAGACTGGACCTGAGGATAGATAGACACATGACATCTGATACTGGGGTGAAACATCAGTGACAGTGGCACCAAGAAGCTGCCCAG... | TAATTAATATTAATCAGAGTTCAAAATGCTTTAATTTGAATCAGGTGAAAGTCTCTGTGTCCTAGGAGTCAAGCGAAAAGTAGGTAAGAATCTGAGACAGGGTTAGAAGGACCATTTACTTGTCTTGCCCTGTTAGCTGCCAGGTAGCTGGAGGAAAAGCACCTTCCTCTACCTTGGGAGCCAAGCACATACTGAGCGTTTCAGTAACCATTTTCCTCCTTCTAGCCTTTCTGGATAGACTGGACCTGAGGATAGATAGACACATGACATCTGATACTGGGGTGAAACATCAGTGACAGTGGCACCAAGAAGCTGCCCAG... |
Task1_train_16591 | A variant has been detected on Chromosome 11 in CFAP300 (cilia and flagella associated protein 300). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Ciliary dyskinesia, primary, 38 | TAAGAACACTTAAATACTAAAAGGGATCATTACTTAAATGTATATGCCAATGCCTATTATATGTTAAAAGCACCTTTTCTTCCTTTTTTTAGTGTTCGAAAGAATCCTCAAACCAAGAAAATACAGATTACCTCTTCTGTCTTTAAAGTTTCAGCTTATGTAAGTGTGAGAGAACTTTTGCAACCAAAGAATTTAATTACTTTTTATTAATAGAGTTGTTACAACTGGAGTTAACAATCAGGACAATGTTATGCCTAGGAGAAAAGACAATGTTATTTAGAGTTTTGTTAAAATTAAAAGTTGATAGAGTATGCTTTTGT... | TAAGAACACTTAAATACTAAAAGGGATCATTACTTAAATGTATATGCCAATGCCTATTATATGTTAAAAGCACCTTTTCTTCCTTTTTTTAGTGTTCGAAAGAATCCTCAAACCAAGAAAATACAGATTACCTCTTCTGTCTTTAAAGTTTCAGCTTATGTAAGTGTGAGAGAACTTTTGCAACCAAAGAATTTAATTACTTTTTATTAATAGAGTTGTTACAACTGGAGTTAACAATCAGGACAATGTTATGCCTAGGAGAAAAGACAATGTTATTTAGAGTTTTGTTAAAATTAAAAGTTGATAGAGTATGCTTTTGT... |
Task1_train_16592 | A mutation found in YAP1 (Yes1 associated transcriptional regulator) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Uveal coloboma-cleft lip and palate-intellectual disability | CCAAGTGATACAGATCCTTCAGAATTCTCCTGGGCATGTTCTGGCTGAAGGAAGAAATTACCTTTTTGCTCACGGACTTTTTCCTTGCTTAATCCTACTTATACCTTTGTTTCACTAGCATTGTAGACAAAATCATTAAAACAAGAAAGCCAGATTTCCTTAGAATGGGCTTGTGCATTTAAAATTAGACTGATGTTGCACAATCCTATGAATATATTTAAAAAAACAGTGAATTGCTTAAATATACTAATATGTACAACTATTGCAAAAACTGTATGGTATATAAATTATATCTCAACAAGGATGCTTTAAAAAAAAAA... | CCAAGTGATACAGATCCTTCAGAATTCTCCTGGGCATGTTCTGGCTGAAGGAAGAAATTACCTTTTTGCTCACGGACTTTTTCCTTGCTTAATCCTACTTATACCTTTGTTTCACTAGCATTGTAGACAAAATCATTAAAACAAGAAAGCCAGATTTCCTTAGAATGGGCTTGTGCATTTAAAATTAGACTGATGTTGCACAATCCTATGAATATATTTAAAAAAACAGTGAATTGCTTAAATATACTAATATGTACAACTATTGCAAAAACTGTATGGTATATAAATTATATCTCAACAAGGATGCTTTAAAAAAAAAA... |
Task1_train_16593 | Given a variant located on Chromosome 11 and affecting MMP20 (matrix metallopeptidase 20), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Amelogenesis imperfecta hypomaturation type 2A2 | GACCTTGCTAGGTATCTGTGTCTGCATGCATTACATCACTTAATACCCTCTGTAACCTGAGAAGGTTAGAAGTGCCTACGATGGTTTCCTTCCTTAACCAGAAAAATGAGCTTGTTAACATTTTAGTTAATGCCCTAGACCAACTTTTCGGTGAATCTATTTATCTAGATTACAAAAGACTTCTCCTTAGTAGACACTCACAGAGGCCCAGTTGGAAAGGTACAGTACGATTTTCTCTGGGGGCAAAGAGCATCACTAAAATCAGAGAGCCTTGACCTCCCCATCCTAAAACTTACAGAGAATTTTGAACCTCTGCCCAC... | GACCTTGCTAGGTATCTGTGTCTGCATGCATTACATCACTTAATACCCTCTGTAACCTGAGAAGGTTAGAAGTGCCTACGATGGTTTCCTTCCTTAACCAGAAAAATGAGCTTGTTAACATTTTAGTTAATGCCCTAGACCAACTTTTCGGTGAATCTATTTATCTAGATTACAAAAGACTTCTCCTTAGTAGACACTCACAGAGGCCCAGTTGGAAAGGTACAGTACGATTTTCTCTGGGGGCAAAGAGCATCACTAAAATCAGAGAGCCTTGACCTCCCCATCCTAAAACTTACAGAGAATTTTGAACCTCTGCCCAC... |
Task1_train_16594 | This genomic variant is located on Chromosome 11, within the MMP20 (matrix metallopeptidase 20) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Amelogenesis imperfecta hypomaturation type 2A2 | CATAGTAAGTCTTCTAAAGATTATTATTTTATTATAGAACTTCTTTGATATCTACAAGTGTTCCAAATTAGAAATGTAATTTAAAAATTGGCATGGATTGTTTGTTTGTAATTAAGTTCTTTTTTTCTCAATAAGAAAACTTTCTTGTGTGTTTTCCTATTATTTTCATAGACTCCTTGGCATCCTGCCCTGTGCTTTTGTCTTTTACTAGGCATCCAGGAAAAACTGAGCGAGTTCTTGTGAAACTGAAGTACACTGAAGGTGTTTGCTATTTAAAGGTATCTTCTGGTGGATCGTCTTGGAAAACATGGACCCAAATC... | CATAGTAAGTCTTCTAAAGATTATTATTTTATTATAGAACTTCTTTGATATCTACAAGTGTTCCAAATTAGAAATGTAATTTAAAAATTGGCATGGATTGTTTGTTTGTAATTAAGTTCTTTTTTTCTCAATAAGAAAACTTTCTTGTGTGTTTTCCTATTATTTTCATAGACTCCTTGGCATCCTGCCCTGTGCTTTTGTCTTTTACTAGGCATCCAGGAAAAACTGAGCGAGTTCTTGTGAAACTGAAGTACACTGAAGGTGTTTGCTATTTAAAGGTATCTTCTGGTGGATCGTCTTGGAAAACATGGACCCAAATC... |
Task1_train_16595 | This variant lies on Chromosome 11 and affects the gene MMP20, MMP20-AS1 (matrix metallopeptidase 20| MMP20 antisense RNA 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Amelogenesis imperfecta hypomaturation type 2A2 | TATAGAACTTCTTTGATATCTACAAGTGTTCCAAATTAGAAATGTAATTTAAAAATTGGCATGGATTGTTTGTTTGTAATTAAGTTCTTTTTTTCTCAATAAGAAAACTTTCTTGTGTGTTTTCCTATTATTTTCATAGACTCCTTGGCATCCTGCCCTGTGCTTTTGTCTTTTACTAGGCATCCAGGAAAAACTGAGCGAGTTCTTGTGAAACTGAAGTACACTGAAGGTGTTTGCTATTTAAAGGTATCTTCTGGTGGATCGTCTTGGAAAACATGGACCCAAATCTTGCGAGAGCTATCAGTGAGTCTCCTCTCCTG... | TATAGAACTTCTTTGATATCTACAAGTGTTCCAAATTAGAAATGTAATTTAAAAATTGGCATGGATTGTTTGTTTGTAATTAAGTTCTTTTTTTCTCAATAAGAAAACTTTCTTGTGTGTTTTCCTATTATTTTCATAGACTCCTTGGCATCCTGCCCTGTGCTTTTGTCTTTTACTAGGCATCCAGGAAAAACTGAGCGAGTTCTTGTGAAACTGAAGTACACTGAAGGTGTTTGCTATTTAAAGGTATCTTCTGGTGGATCGTCTTGGAAAACATGGACCCAAATCTTGCGAGAGCTATCAGTGAGTCTCCTCTCCTG... |
Task1_train_16596 | Here is a genetic alteration in MMP20, MMP20-AS1 (matrix metallopeptidase 20| MMP20 antisense RNA 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Amelogenesis imperfecta hypomaturation type 2A2 | GACATTCATGGCATTTTTCCTGTCCCTCAAGGGTCAGGCAGATCTGGTGCTTTCCCCCTCCTGGAAATGGATAGAGCTGGCTGAAAGCTTCTTGGGATGAAATTTGTCTTTTGTGCCTCAGGTGAAATCTGACTGATTTTGAATGGTGTGCCCATTTCTGGGCTTCCCACCCTCCAGATCCCCTGGGGCCAGATTCCTAGCACCCCAGGAAGCTGTTGGGGGATCTGGGTCTCTAGGCACTGAGAAGATGGGGAGAAGCTCTGATAATCAGAAGCCTAATAACCAGGTCTCCAGGGCTCAAAGGAAAAGCAATTTCCTAG... | GACATTCATGGCATTTTTCCTGTCCCTCAAGGGTCAGGCAGATCTGGTGCTTTCCCCCTCCTGGAAATGGATAGAGCTGGCTGAAAGCTTCTTGGGATGAAATTTGTCTTTTGTGCCTCAGGTGAAATCTGACTGATTTTGAATGGTGTGCCCATTTCTGGGCTTCCCACCCTCCAGATCCCCTGGGGCCAGATTCCTAGCACCCCAGGAAGCTGTTGGGGGATCTGGGTCTCTAGGCACTGAGAAGATGGGGAGAAGCTCTGATAATCAGAAGCCTAATAACCAGGTCTCCAGGGCTCAAAGGAAAAGCAATTTCCTAG... |
Task1_train_16597 | A mutation found in MMP13 (matrix metallopeptidase 13) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Metaphyseal chondrodysplasia, Spahr type | GTTTGTCGCATACAGACTTTATGAAAGAATCTCAAGAGTACCTGTCTTTAAAGATCATTGTTTCTCCTCGGAGACTGGTAATGGCATCAAGGGATAAGGAAGGGTCACATTTGTCTGGCGTTTTTGGATGTTTAGGGTTGGGGTCTTCATCTCCTGGACCTGTAGTCGTGAAAGGCAAGAGAGAAGTTATGAGTGTGACATTACTGATAACCTGAGTCACAGTACAACAGGCTGATCTGCTGATGGACAGTGGGAGAGGGTTTCTCCAGGAAAAGCTGTAGGTCCTGGGGCTCCTACATCATGGTGCAAGTACCGTGTAA... | GTTTGTCGCATACAGACTTTATGAAAGAATCTCAAGAGTACCTGTCTTTAAAGATCATTGTTTCTCCTCGGAGACTGGTAATGGCATCAAGGGATAAGGAAGGGTCACATTTGTCTGGCGTTTTTGGATGTTTAGGGTTGGGGTCTTCATCTCCTGGACCTGTAGTCGTGAAAGGCAAGAGAGAAGTTATGAGTGTGACATTACTGATAACCTGAGTCACAGTACAACAGGCTGATCTGCTGATGGACAGTGGGAGAGGGTTTCTCCAGGAAAAGCTGTAGGTCCTGGGGCTCCTACATCATGGTGCAAGTACCGTGTAA... |
Task1_train_16598 | Gene MMP13, LOC126861318 (matrix metallopeptidase 13| BRD4-independent group 4 enhancer GRCh37_chr11:102825894-102827093), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spondyloepimetaphyseal dysplasia, Missouri type | AATACCCAGAACATAAATATGTAAATTTTCACTTTTCCCTCCATAGACAGATTGGAGGTATTAGATTTGAGACACTGATCATGTAAGGCCCAGTTTTATTCTTTGGAGAAATAATCTTTTTTATTTAAATGAAAAATAAAACTCAGCTGTCTATGAAGACAACATCTACTTGTCATAACTAAGTCCTAGTTAGAACAATCTATGGCTTTTCTTCCTAAGTTAACATTCCCAATTATTTTGAGACTTGAAGATTTAACTACTAACTGATCTCATTCAACATTCAGTTTCATTTTGCTCTTGTAAATACAACCATCATCTTG... | AATACCCAGAACATAAATATGTAAATTTTCACTTTTCCCTCCATAGACAGATTGGAGGTATTAGATTTGAGACACTGATCATGTAAGGCCCAGTTTTATTCTTTGGAGAAATAATCTTTTTTATTTAAATGAAAAATAAAACTCAGCTGTCTATGAAGACAACATCTACTTGTCATAACTAAGTCCTAGTTAGAACAATCTATGGCTTTTCTTCCTAAGTTAACATTCCCAATTATTTTGAGACTTGAAGATTTAACTACTAACTGATCTCATTCAACATTCAGTTTCATTTTGCTCTTGTAAATACAACCATCATCTTG... |
Task1_train_16599 | The variant affects gene MMP13, LOC126861318 (matrix metallopeptidase 13| BRD4-independent group 4 enhancer GRCh37_chr11:102825894-102827093), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Spondyloepimetaphyseal dysplasia, Missouri type | AATACCCAGAACATAAATATGTAAATTTTCACTTTTCCCTCCATAGACAGATTGGAGGTATTAGATTTGAGACACTGATCATGTAAGGCCCAGTTTTATTCTTTGGAGAAATAATCTTTTTTATTTAAATGAAAAATAAAACTCAGCTGTCTATGAAGACAACATCTACTTGTCATAACTAAGTCCTAGTTAGAACAATCTATGGCTTTTCTTCCTAAGTTAACATTCCCAATTATTTTGAGACTTGAAGATTTAACTACTAACTGATCTCATTCAACATTCAGTTTCATTTTGCTCTTGTAAATACAACCATCATCTTG... | AATACCCAGAACATAAATATGTAAATTTTCACTTTTCCCTCCATAGACAGATTGGAGGTATTAGATTTGAGACACTGATCATGTAAGGCCCAGTTTTATTCTTTGGAGAAATAATCTTTTTTATTTAAATGAAAAATAAAACTCAGCTGTCTATGAAGACAACATCTACTTGTCATAACTAAGTCCTAGTTAGAACAATCTATGGCTTTTCTTCCTAAGTTAACATTCCCAATTATTTTGAGACTTGAAGATTTAACTACTAACTGATCTCATTCAACATTCAGTTTCATTTTGCTCTTGTAAATACAACCATCATCTTG... |
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