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_14200 | The following genetic variant occurs in PTEN (phosphatase and tensin homolog) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; PTEN hamartoma tumor syndrome | ATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTA... | ATGTACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTA... |
Task1_train_14201 | Given this context: Chromosome 10, gene PTEN (phosphatase and tensin homolog) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; PTEN hamartoma tumor syndrome | TACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACT... | TACTGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACT... |
Task1_train_14202 | A mutation in PTEN (phosphatase and tensin homolog), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; PTEN hamartoma tumor syndrome | TGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTT... | TGTACTATGTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTT... |
Task1_train_14203 | A variant was discovered in gene PTEN (phosphatase and tensin homolog), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; PTEN hamartoma tumor syndrome | GTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTG... | GTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTG... |
Task1_train_14204 | Here is a mutation in PTEN (phosphatase and tensin homolog) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cowden syndrome 1 | GTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTG... | GTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTG... |
Task1_train_14205 | A genomic change on Chromosome 10 affects PTEN (phosphatase and tensin homolog). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | GTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTG... | GTTGTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTG... |
Task1_train_14206 | Assess the clinical impact of this variant on gene PTEN (phosphatase and tensin homolog), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cowden syndrome 1 | GTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGG... | GTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGG... |
Task1_train_14207 | Gene PTEN (phosphatase and tensin homolog), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cowden syndrome | GTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGG... | GTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGG... |
Task1_train_14208 | Here’s a variant in PTEN (phosphatase and tensin homolog) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Glioma susceptibility 2 | GTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGG... | GTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGG... |
Task1_train_14209 | This mutation is located in gene PTEN (phosphatase and tensin homolog) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; PTEN hamartoma tumor syndrome | GTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGG... | GTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGG... |
Task1_train_14210 | A variant was discovered on Chromosome 10, affecting PTEN (phosphatase and tensin homolog). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | GTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGG... | GTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGG... |
Task1_train_14211 | A variant on Chromosome 10 in gene PTEN (phosphatase and tensin homolog) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Glioma | GTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGG... | GTATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGG... |
Task1_train_14212 | Gene PTEN (phosphatase and tensin homolog) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; PTEN hamartoma tumor syndrome | TATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGA... | TATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGA... |
Task1_train_14213 | This variant affects gene PTEN (phosphatase and tensin homolog) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary cancer-predisposing syndrome | TATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGA... | TATAACTTAAACCCGATAGACTGTATCTTACTGTCATAACAATAATGAGTCATCCAGATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGA... |
Task1_train_14214 | A change on Chromosome 10 affects gene PTEN (phosphatase and tensin homolog). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | GATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGA... | GATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGA... |
Task1_train_14215 | A variant affecting Chromosome 10, within the gene PTEN (phosphatase and tensin homolog), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cowden syndrome 1 | GATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGA... | GATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGA... |
Task1_train_14216 | A mutation in PTEN (phosphatase and tensin homolog), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Macrocephaly-autism syndrome | GATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGA... | GATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGA... |
Task1_train_14217 | Gene PTEN (phosphatase and tensin homolog), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; PTEN hamartoma tumor syndrome | ATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGAT... | ATTATCGAGTGAGATACATATTTAAGAATTATCTTTAAAAATTTCAAAAATTTTAATTTTACTGTTGTGTTTTAGGAAAAAGTATTGCATAAAGCTATTAATATTGTCAGGAAGACTAAAGTGCAGCATAGACTAAGAATTAGGAAAATTCCTAGACTAAAAATAGTATAAGGAGAGGGTTTACCTACTATTTGAGGCAGTTGGTCTAATAGTAAGCAATCACAGGGAGAAAGCAGAACTACTTAACTCTTCTGTGTTGAGGAATGACATAAAAGGTAGGAAAGGATATAACAAATGTTGATAAGAGGAGTCTGATGGAT... |
Task1_train_14218 | This mutation occurs in PTEN (phosphatase and tensin homolog) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; PTEN hamartoma tumor syndrome | GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTT... | GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTT... |
Task1_train_14219 | This genomic variant is located on Chromosome 10, within the PTEN (phosphatase and tensin homolog) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cowden syndrome 1 | GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTT... | GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTT... |
Task1_train_14220 | This variant lies on Chromosome 10 and affects the gene PTEN (phosphatase and tensin homolog). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; PTEN hamartoma tumor syndrome | GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTT... | GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTT... |
Task1_train_14221 | The variant affects gene PTEN (phosphatase and tensin homolog), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Macrocephaly-autism syndrome | CTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTT... | CTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTT... |
Task1_train_14222 | The gene PTEN (phosphatase and tensin homolog) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cowden syndrome 1 | ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGT... | ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGT... |
Task1_train_14223 | Gene PTEN (phosphatase and tensin homolog) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cowden syndrome 1 | CCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATC... | CCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATC... |
Task1_train_14224 | The gene PTEN (phosphatase and tensin homolog), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary cancer-predisposing syndrome | CCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATC... | CCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATC... |
Task1_train_14225 | The gene PTEN (phosphatase and tensin homolog) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; PTEN hamartoma tumor syndrome | CCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATC... | CCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATC... |
Task1_train_14226 | A variant affecting Chromosome 10, within the gene PTEN (phosphatase and tensin homolog), has been observed. Determine if it's benign or associated with disease. | Pathogenic; PTEN-related disorder | CCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCT... | CCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCT... |
Task1_train_14227 | This sequence variant lies in PTEN (phosphatase and tensin homolog) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary cancer-predisposing syndrome | CCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCT... | CCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCT... |
Task1_train_14228 | A genomic change on Chromosome 10 affects PTEN (phosphatase and tensin homolog). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; PTEN hamartoma tumor syndrome | CCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCT... | CCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCT... |
Task1_train_14229 | Here is a mutation in PTEN (phosphatase and tensin homolog) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; PTEN hamartoma tumor syndrome | CCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTG... | CCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTG... |
Task1_train_14230 | The gene PTEN (phosphatase and tensin homolog) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary cancer-predisposing syndrome | CCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTG... | CCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTG... |
Task1_train_14231 | The gene PTEN (phosphatase and tensin homolog) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; PTEN hamartoma tumor syndrome | CCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTG... | CCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTG... |
Task1_train_14232 | This genomic variant is located on Chromosome 10, within the PTEN (phosphatase and tensin homolog) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cowden syndrome 1 | CCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTG... | CCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTG... |
Task1_train_14233 | A change on Chromosome 10 affects gene PTEN (phosphatase and tensin homolog). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | CGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGG... | CGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGG... |
Task1_train_14234 | Gene PTEN (phosphatase and tensin homolog) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTG... | TACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTG... |
Task1_train_14235 | A variant affecting Chromosome 10, within the gene PTEN (phosphatase and tensin homolog), has been observed. Determine if it's benign or associated with disease. | Pathogenic; PTEN hamartoma tumor syndrome | TACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTG... | TACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTG... |
Task1_train_14236 | This mutation occurs in PTEN (phosphatase and tensin homolog) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neoplasm | TACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTG... | TACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTG... |
Task1_train_14237 | A variant on Chromosome 10 in gene PTEN (phosphatase and tensin homolog) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; PTEN hamartoma tumor syndrome | GCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGA... | GCATGGTGGTGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGA... |
Task1_train_14238 | Given this context: Chromosome 10, gene PTEN (phosphatase and tensin homolog) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; PTEN hamartoma tumor syndrome | CCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTC... | CCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTC... |
Task1_train_14239 | Here’s a variant in PTEN (phosphatase and tensin homolog) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; PTEN hamartoma tumor syndrome | AGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTCAGCATTCAAATACAAGTCTTTTATTTAT... | AGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAATTATATAGAAATAAAATTCCAGCTATTCCAAAACTGCACCTTGAATACAGGTACAGAATTGCTAAAACCGTGTACCATTTTGTAGTTTTAGCATGCTTTTGTGTAACTGCATCTGGTGTTTGATCCTCATGAGAGCCCTGTTAAGGAAGGGTACATATTATTGTCCTCATTTTCCTTCGAAAACACATCAGAGTTTGTATTTTGACTGTCAGCATTCAAATACAAGTCTTTTATTTAT... |
Task1_train_14240 | This mutation is located in gene PTEN (phosphatase and tensin homolog) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; PTEN hamartoma tumor syndrome | ATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTT... | ATCTGAAACATGATATTCATATTGCAGAGAAGATTATTTTCTTTAGTGATTGAGGAAATCTTTACTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTT... |
Task1_train_14241 | With a mutation on Chromosome 10 in gene PTEN (phosphatase and tensin homolog), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; PTEN hamartoma tumor syndrome | CTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATGAAATGGCTCATTGCACTTTGAACTTTGAGTCAAGGAAGTGAA... | CTACTTATACATTTTTAATATAATACTATAATATTTGAAGATGCACATTTTAGATGTAGTTTAATTGAAACCTGGAAATACTATTAATTTGCTTTTTAAAGTCCTAAAATCAGGATTATCAGATTCTGAATTAATGGAGTTTAAATCAAAAAGATTACAAGGCAGTTTTTCAGTTTTATTCTGGTTAATTTTATCACAGCTTTGGAATCCTACTTTGTTTATTTGCTTCTTGAAGTTAGATTTCCCAGTGAAATTTCAGTATCACATAAAGTCTTATGAAATGGCTCATTGCACTTTGAACTTTGAGTCAAGGAAGTGAA... |
Task1_train_14242 | Gene PTEN (phosphatase and tensin homolog) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; PTEN hamartoma tumor syndrome | ACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGAC... | ACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGAC... |
Task1_train_14243 | The variant affects gene PTEN (phosphatase and tensin homolog), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Macrocephaly-autism syndrome | GGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGT... | GGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGT... |
Task1_train_14244 | This variant affects the gene PTEN (phosphatase and tensin homolog) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; PTEN hamartoma tumor syndrome | AGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGC... | AGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGC... |
Task1_train_14245 | A genetic alteration is present in PTEN (phosphatase and tensin homolog) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; PTEN hamartoma tumor syndrome | CAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAA... | CAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAA... |
Task1_train_14246 | Located on Chromosome 10, this mutation impacts PTEN (phosphatase and tensin homolog). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Neoplasm | CAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAA... | CAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAA... |
Task1_train_14247 | A variant was discovered in gene PTEN (phosphatase and tensin homolog), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; PTEN hamartoma tumor syndrome | TTTTATATTTGTGATTACAAATAAAAACTCCATTATTAGTAAACAAATACAATGTCATATAGTAGTAAGTGCTATAAAAAATAGACAGGATAGAAAGTAATCTTGGTTTGTATGTTTTTTGTTTTTTAGCAAAGATGATTAGAGAAGGCCCAACCAAGCAGATAACATTTAAGCAGAGGCCTAAATCATATAAGTGAGTTATACAAATATCTGGGAAAAGAGTTAAGAGTACAGATGCAAAAGCCCTTAGACAAGAGAATGAGCTTGGTATATCTGAAGAGTGGATAAGTCATTTTGACTGAAACAGAGTGGACAAGAAA... | TTTTATATTTGTGATTACAAATAAAAACTCCATTATTAGTAAACAAATACAATGTCATATAGTAGTAAGTGCTATAAAAAATAGACAGGATAGAAAGTAATCTTGGTTTGTATGTTTTTTGTTTTTTAGCAAAGATGATTAGAGAAGGCCCAACCAAGCAGATAACATTTAAGCAGAGGCCTAAATCATATAAGTGAGTTATACAAATATCTGGGAAAAGAGTTAAGAGTACAGATGCAAAAGCCCTTAGACAAGAGAATGAGCTTGGTATATCTGAAGAGTGGATAAGTCATTTTGACTGAAACAGAGTGGACAAGAAA... |
Task1_train_14248 | A variant was discovered in gene ACTA2, ACTA2-AS1 (actin alpha 2, smooth muscle| ACTA2 antisense RNA 1), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Aortic aneurysm, familial thoracic 6 | GGGTCCTGGGTGGCTCAGGGACTGAGCTTGGTCATCCTAGAGTCATTCTGTGCTTTTGAGCACCTGTACCAAAAGATGTGCTAGACAGAGGAATGAGGATAAAATTTGAATTCTTGGCCACAGGATTGAGGTTAGTAGTGGAGGAAGAGTATAAGCTCCTCCTAAATCTACAGTGTTTGAAGTTCTTCAGAAATAAGTCTAGGTCATCAGTATTTTTAAAAAATGTGTTACATGCATGATGCACTATTTTTGTGTCGAGAAAAACAACAAAATGCATATTTTAAAGAGAGATGAGCATGTGGGGAGCTCTGTTGACTTTG... | GGGTCCTGGGTGGCTCAGGGACTGAGCTTGGTCATCCTAGAGTCATTCTGTGCTTTTGAGCACCTGTACCAAAAGATGTGCTAGACAGAGGAATGAGGATAAAATTTGAATTCTTGGCCACAGGATTGAGGTTAGTAGTGGAGGAAGAGTATAAGCTCCTCCTAAATCTACAGTGTTTGAAGTTCTTCAGAAATAAGTCTAGGTCATCAGTATTTTTAAAAAATGTGTTACATGCATGATGCACTATTTTTGTGTCGAGAAAAACAACAAAATGCATATTTTAAAGAGAGATGAGCATGTGGGGAGCTCTGTTGACTTTG... |
Task1_train_14249 | Chromosome 10 houses a mutation in gene ACTA2, ACTA2-AS1 (actin alpha 2, smooth muscle| ACTA2 antisense RNA 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGGTCCTGGGTGGCTCAGGGACTGAGCTTGGTCATCCTAGAGTCATTCTGTGCTTTTGAGCACCTGTACCAAAAGATGTGCTAGACAGAGGAATGAGGATAAAATTTGAATTCTTGGCCACAGGATTGAGGTTAGTAGTGGAGGAAGAGTATAAGCTCCTCCTAAATCTACAGTGTTTGAAGTTCTTCAGAAATAAGTCTAGGTCATCAGTATTTTTAAAAAATGTGTTACATGCATGATGCACTATTTTTGTGTCGAGAAAAACAACAAAATGCATATTTTAAAGAGAGATGAGCATGTGGGGAGCTCTGTTGACTTTG... | GGGTCCTGGGTGGCTCAGGGACTGAGCTTGGTCATCCTAGAGTCATTCTGTGCTTTTGAGCACCTGTACCAAAAGATGTGCTAGACAGAGGAATGAGGATAAAATTTGAATTCTTGGCCACAGGATTGAGGTTAGTAGTGGAGGAAGAGTATAAGCTCCTCCTAAATCTACAGTGTTTGAAGTTCTTCAGAAATAAGTCTAGGTCATCAGTATTTTTAAAAAATGTGTTACATGCATGATGCACTATTTTTGTGTCGAGAAAAACAACAAAATGCATATTTTAAAGAGAGATGAGCATGTGGGGAGCTCTGTTGACTTTG... |
Task1_train_14250 | Given a variant located on Chromosome 10 and affecting ACTA2, ACTA2-AS1 (actin alpha 2, smooth muscle| ACTA2 antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Aortic aneurysm, familial thoracic 6 | GGTCCTGGGTGGCTCAGGGACTGAGCTTGGTCATCCTAGAGTCATTCTGTGCTTTTGAGCACCTGTACCAAAAGATGTGCTAGACAGAGGAATGAGGATAAAATTTGAATTCTTGGCCACAGGATTGAGGTTAGTAGTGGAGGAAGAGTATAAGCTCCTCCTAAATCTACAGTGTTTGAAGTTCTTCAGAAATAAGTCTAGGTCATCAGTATTTTTAAAAAATGTGTTACATGCATGATGCACTATTTTTGTGTCGAGAAAAACAACAAAATGCATATTTTAAAGAGAGATGAGCATGTGGGGAGCTCTGTTGACTTTGA... | GGTCCTGGGTGGCTCAGGGACTGAGCTTGGTCATCCTAGAGTCATTCTGTGCTTTTGAGCACCTGTACCAAAAGATGTGCTAGACAGAGGAATGAGGATAAAATTTGAATTCTTGGCCACAGGATTGAGGTTAGTAGTGGAGGAAGAGTATAAGCTCCTCCTAAATCTACAGTGTTTGAAGTTCTTCAGAAATAAGTCTAGGTCATCAGTATTTTTAAAAAATGTGTTACATGCATGATGCACTATTTTTGTGTCGAGAAAAACAACAAAATGCATATTTTAAAGAGAGATGAGCATGTGGGGAGCTCTGTTGACTTTGA... |
Task1_train_14251 | A sequence alteration has been identified in ACTA2, ACTA2-AS1 (actin alpha 2, smooth muscle| ACTA2 antisense RNA 1) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGTCCTGGGTGGCTCAGGGACTGAGCTTGGTCATCCTAGAGTCATTCTGTGCTTTTGAGCACCTGTACCAAAAGATGTGCTAGACAGAGGAATGAGGATAAAATTTGAATTCTTGGCCACAGGATTGAGGTTAGTAGTGGAGGAAGAGTATAAGCTCCTCCTAAATCTACAGTGTTTGAAGTTCTTCAGAAATAAGTCTAGGTCATCAGTATTTTTAAAAAATGTGTTACATGCATGATGCACTATTTTTGTGTCGAGAAAAACAACAAAATGCATATTTTAAAGAGAGATGAGCATGTGGGGAGCTCTGTTGACTTTGA... | GGTCCTGGGTGGCTCAGGGACTGAGCTTGGTCATCCTAGAGTCATTCTGTGCTTTTGAGCACCTGTACCAAAAGATGTGCTAGACAGAGGAATGAGGATAAAATTTGAATTCTTGGCCACAGGATTGAGGTTAGTAGTGGAGGAAGAGTATAAGCTCCTCCTAAATCTACAGTGTTTGAAGTTCTTCAGAAATAAGTCTAGGTCATCAGTATTTTTAAAAAATGTGTTACATGCATGATGCACTATTTTTGTGTCGAGAAAAACAACAAAATGCATATTTTAAAGAGAGATGAGCATGTGGGGAGCTCTGTTGACTTTGA... |
Task1_train_14252 | Chromosome 10 houses a mutation in gene ACTA2 (actin alpha 2, smooth muscle). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Multisystemic smooth muscle dysfunction syndrome | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... |
Task1_train_14253 | Here is a genetic alteration in ACTA2 (actin alpha 2, smooth muscle) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... |
Task1_train_14254 | A genomic change on Chromosome 10 affects ACTA2 (actin alpha 2, smooth muscle). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Moyamoya disease 5 | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... |
Task1_train_14255 | A genomic change on Chromosome 10 affects ACTA2 (actin alpha 2, smooth muscle). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Multisystemic smooth muscle dysfunction syndrome | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... |
Task1_train_14256 | A genomic change on Chromosome 10 affects ACTA2 (actin alpha 2, smooth muscle). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Moyamoya disease 5 | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... |
Task1_train_14257 | Mutation context: Chromosome 10, Gene ACTA2 (actin alpha 2, smooth muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Aortic aneurysm, familial thoracic 6 | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... |
Task1_train_14258 | Located on Chromosome 10, this mutation impacts ACTA2 (actin alpha 2, smooth muscle). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Multisystemic smooth muscle dysfunction syndrome | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... |
Task1_train_14259 | Chromosome 10 houses a mutation in gene ACTA2 (actin alpha 2, smooth muscle). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Aortic aneurysm, familial thoracic 6 | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... | TTTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCA... |
Task1_train_14260 | This sequence variant lies in ACTA2 (actin alpha 2, smooth muscle) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Aortic aneurysm, familial thoracic 6 | TTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCAG... | TTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCAG... |
Task1_train_14261 | This alteration occurs within gene ACTA2 (actin alpha 2, smooth muscle) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial aortopathy | TTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCAG... | TTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCAG... |
Task1_train_14262 | Assess the clinical impact of this variant on gene ACTA2 (actin alpha 2, smooth muscle), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Multisystemic smooth muscle dysfunction syndrome | TTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCAG... | TTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCAG... |
Task1_train_14263 | This alteration occurs within gene ACTA2 (actin alpha 2, smooth muscle) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Multisystemic smooth muscle dysfunction syndrome | TTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCAG... | TTCATCATACACCATGAATGCTTTGGGCTTAACTGCAACATAGATAGTGTTTTCTTAGGAAGAAAACCTTTTTCCTGGCCTCATTATGTCTTCTCGCCTTGAAAATGTGGCACTTTCCCTTTTTCTGGTTTAGAAATGCTTTTGGTCTTGGGGCAACCGTCACTTGTCTCCATGTTCTGGAGGCTGGCTTGATATGGAAGAAGACAATGACTCCCCTTCCCAGGAAAAGGGCGTTTGTTGCCTACCGATGAAGGATGGCTGGAACAGGGTCTCTGGGCAGCGGAAACGTTCATTTCCGATGGTGATCACTTGCCCATCAG... |
Task1_train_14264 | This variant affects the gene ACTA2 (actin alpha 2, smooth muscle) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Aortic aneurysm, familial thoracic 6 | GTGGCAAAGATTCACCTGCCCTACTGCAGTCTCTCCCTCAAGACATGTGCCATCAAAAAATGTGTCAGTTCAATATTCTGCAATCCAAAATCCACAATGATAATGACGTAGTAGGGCCACCAGGGAACCACCTCTGTTCCTAGGACAGTGTCTCATGCATAGTAGGCCCTCAGCATGCATTGTCTGGGAAATGCATAACAAGAATAAAATGAGCTAGCTAGAGAAAGGCACACAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTGGGCAGGATAACTACTCTGTGTTATAATTATTTTATGACAGAAAG... | GTGGCAAAGATTCACCTGCCCTACTGCAGTCTCTCCCTCAAGACATGTGCCATCAAAAAATGTGTCAGTTCAATATTCTGCAATCCAAAATCCACAATGATAATGACGTAGTAGGGCCACCAGGGAACCACCTCTGTTCCTAGGACAGTGTCTCATGCATAGTAGGCCCTCAGCATGCATTGTCTGGGAAATGCATAACAAGAATAAAATGAGCTAGCTAGAGAAAGGCACACAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTGGGCAGGATAACTACTCTGTGTTATAATTATTTTATGACAGAAAG... |
Task1_train_14265 | Here is a genetic alteration in ACTA2 (actin alpha 2, smooth muscle) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GTGGCAAAGATTCACCTGCCCTACTGCAGTCTCTCCCTCAAGACATGTGCCATCAAAAAATGTGTCAGTTCAATATTCTGCAATCCAAAATCCACAATGATAATGACGTAGTAGGGCCACCAGGGAACCACCTCTGTTCCTAGGACAGTGTCTCATGCATAGTAGGCCCTCAGCATGCATTGTCTGGGAAATGCATAACAAGAATAAAATGAGCTAGCTAGAGAAAGGCACACAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTGGGCAGGATAACTACTCTGTGTTATAATTATTTTATGACAGAAAG... | GTGGCAAAGATTCACCTGCCCTACTGCAGTCTCTCCCTCAAGACATGTGCCATCAAAAAATGTGTCAGTTCAATATTCTGCAATCCAAAATCCACAATGATAATGACGTAGTAGGGCCACCAGGGAACCACCTCTGTTCCTAGGACAGTGTCTCATGCATAGTAGGCCCTCAGCATGCATTGTCTGGGAAATGCATAACAAGAATAAAATGAGCTAGCTAGAGAAAGGCACACAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTGGGCAGGATAACTACTCTGTGTTATAATTATTTTATGACAGAAAG... |
Task1_train_14266 | This sequence change occurs on Chromosome 10, altering ACTA2 (actin alpha 2, smooth muscle). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Aortic aneurysm, familial thoracic 6 | TATGAAATTTTTGTAGAAAGATAGAGCTTGGAGCATTACTGCTGATAAATTCTAACAACATTATGTATTTTTCTTTTAAGTGATAAATTGTGTGCGTAGTAGTAGTAGTGAGCCGATAGATAAATAAAAGGCCAGATATCGTGATTCTGATATATCTTGCTGCATTTAAAATTTTTTATGTCACTTTCTCATTATTTCTTCTGTTTTTTTCTCTGATCACTGGTGTCTGTAATGTTTAATGACCAAACATCAAAATCTTAGAATTTAGCTCTTCTTCTCATTAGCTCTTTTATTAAGTGTCTGGGAGATAAGGCCTCATG... | TATGAAATTTTTGTAGAAAGATAGAGCTTGGAGCATTACTGCTGATAAATTCTAACAACATTATGTATTTTTCTTTTAAGTGATAAATTGTGTGCGTAGTAGTAGTAGTGAGCCGATAGATAAATAAAAGGCCAGATATCGTGATTCTGATATATCTTGCTGCATTTAAAATTTTTTATGTCACTTTCTCATTATTTCTTCTGTTTTTTTCTCTGATCACTGGTGTCTGTAATGTTTAATGACCAAACATCAAAATCTTAGAATTTAGCTCTTCTTCTCATTAGCTCTTTTATTAAGTGTCTGGGAGATAAGGCCTCATG... |
Task1_train_14267 | This genomic variant is located on Chromosome 10, within the FAS (Fas cell surface death receptor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autoimmune lymphoproliferative syndrome, type 1a | GCCTGGGTGACAGAGCAAGACTCCGTCTAAAACAAAACAAAACAAAACAACAACAACAAAAACAAAGTAAAACCCTCTTCACTGTGATGACTCTAAAGCTTGCTTTTGTCTCTCTAAATCACAACAAACCGTTTGCAGTGTGATGCTGTGCTCAAAATTGAGAATTCTCACTGACTGTTCCAGGCATCTGTCTACTCATTCTTGCCATGCTGAGGGCTGTCATTTCTCACCACTGAATGCCTTTTTTTTTTTTTTTGTGCTTCTTTTTAAAAGTCTTTTCCTGTTTGCTTTGAACTTCAATAAAAACAGGGGGTAAGAAG... | GCCTGGGTGACAGAGCAAGACTCCGTCTAAAACAAAACAAAACAAAACAACAACAACAAAAACAAAGTAAAACCCTCTTCACTGTGATGACTCTAAAGCTTGCTTTTGTCTCTCTAAATCACAACAAACCGTTTGCAGTGTGATGCTGTGCTCAAAATTGAGAATTCTCACTGACTGTTCCAGGCATCTGTCTACTCATTCTTGCCATGCTGAGGGCTGTCATTTCTCACCACTGAATGCCTTTTTTTTTTTTTTTGTGCTTCTTTTTAAAAGTCTTTTCCTGTTTGCTTTGAACTTCAATAAAAACAGGGGGTAAGAAG... |
Task1_train_14268 | This variant affects the gene FAS (Fas cell surface death receptor) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autoimmune lymphoproliferative syndrome type 1 | ACCACAACACCGGGATAATTTTTTGTGTTTTTAATAGAGGCGGGGTTTCACCATGTTGGTCAGTCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAATCTGCTGGGATTACAGACATGACCCACTGTGCCCGGCCTGATACATAAGTTCTTATTATACTTTCCTGCCTTTTCCAACATTTCTATAATAAGCATATGTACCATTATACTAAAAAAAGTATTTTAAAATCTGATTTTCAATAAAACAACTACTTATTTTCTTATTTTAATAAATTTTGTTTTCATACTTTGGAGGAACGAAAGAA... | ACCACAACACCGGGATAATTTTTTGTGTTTTTAATAGAGGCGGGGTTTCACCATGTTGGTCAGTCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAATCTGCTGGGATTACAGACATGACCCACTGTGCCCGGCCTGATACATAAGTTCTTATTATACTTTCCTGCCTTTTCCAACATTTCTATAATAAGCATATGTACCATTATACTAAAAAAAGTATTTTAAAATCTGATTTTCAATAAAACAACTACTTATTTTCTTATTTTAATAAATTTTGTTTTCATACTTTGGAGGAACGAAAGAA... |
Task1_train_14269 | A change on Chromosome 10 affects gene FAS (Fas cell surface death receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC | TAATAGCAATACAGTGACAAACTTTATTTTTAAGTAAATTAATGCAAATATGTATATTATTTAAAATTGTTTGTTTTTAAGATAACAAGCCTGATAGATAATAAATTTTGGCATAAATATGTTAATGCTTATCAAAACTCATCAGTACATATCCTGTCTTTTGATGAAAAAGTAATAGAAAGGGGAGAACAAAGAGAACTCTCATGCTCACTAGGCAGGCCGAGTGCAGCTCTGACAGCAATGCAAGAGAAATATTACTATCTCCATCATATGCAGGATGAAATTTAGGCTTGGAGAAAACAACACTTCGTTAAAGATTT... | TAATAGCAATACAGTGACAAACTTTATTTTTAAGTAAATTAATGCAAATATGTATATTATTTAAAATTGTTTGTTTTTAAGATAACAAGCCTGATAGATAATAAATTTTGGCATAAATATGTTAATGCTTATCAAAACTCATCAGTACATATCCTGTCTTTTGATGAAAAAGTAATAGAAAGGGGAGAACAAAGAGAACTCTCATGCTCACTAGGCAGGCCGAGTGCAGCTCTGACAGCAATGCAAGAGAAATATTACTATCTCCATCATATGCAGGATGAAATTTAGGCTTGGAGAAAACAACACTTCGTTAAAGATTT... |
Task1_train_14270 | A genomic change on Chromosome 10 affects FAS (Fas cell surface death receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autoimmune lymphoproliferative syndrome type 1 | ATACAGTGACAAACTTTATTTTTAAGTAAATTAATGCAAATATGTATATTATTTAAAATTGTTTGTTTTTAAGATAACAAGCCTGATAGATAATAAATTTTGGCATAAATATGTTAATGCTTATCAAAACTCATCAGTACATATCCTGTCTTTTGATGAAAAAGTAATAGAAAGGGGAGAACAAAGAGAACTCTCATGCTCACTAGGCAGGCCGAGTGCAGCTCTGACAGCAATGCAAGAGAAATATTACTATCTCCATCATATGCAGGATGAAATTTAGGCTTGGAGAAAACAACACTTCGTTAAAGATTTTATAGCTG... | ATACAGTGACAAACTTTATTTTTAAGTAAATTAATGCAAATATGTATATTATTTAAAATTGTTTGTTTTTAAGATAACAAGCCTGATAGATAATAAATTTTGGCATAAATATGTTAATGCTTATCAAAACTCATCAGTACATATCCTGTCTTTTGATGAAAAAGTAATAGAAAGGGGAGAACAAAGAGAACTCTCATGCTCACTAGGCAGGCCGAGTGCAGCTCTGACAGCAATGCAAGAGAAATATTACTATCTCCATCATATGCAGGATGAAATTTAGGCTTGGAGAAAACAACACTTCGTTAAAGATTTTATAGCTG... |
Task1_train_14271 | The gene FAS (Fas cell surface death receptor) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC | CTGTTCTGTGTTTAAACACTGACTGTATTACTGGTGTCATGCTGTGACTGTTGATATAAGCAGTGGATCTCAAAAATCCATGCAGCTCCTGCCCACCATTTTCATAGTCTGCTTATAATTAGCCGCTATAACTAATAGTTTCCAAACTGATTTTCTAGGCTTAGAAGTGGAAATAAACTGCACCCGGACCCAGAATACCAAGTGCAGATGTAAACCAAACTTTTTTTGTAACTCTACTGTATGTGAACACTGTGACCCTTGCACCAAGTAAGTTTTAGTCTTTCTCTGATTAAAACACTAGATATAACATGAGAGTTATC... | CTGTTCTGTGTTTAAACACTGACTGTATTACTGGTGTCATGCTGTGACTGTTGATATAAGCAGTGGATCTCAAAAATCCATGCAGCTCCTGCCCACCATTTTCATAGTCTGCTTATAATTAGCCGCTATAACTAATAGTTTCCAAACTGATTTTCTAGGCTTAGAAGTGGAAATAAACTGCACCCGGACCCAGAATACCAAGTGCAGATGTAAACCAAACTTTTTTTGTAACTCTACTGTATGTGAACACTGTGACCCTTGCACCAAGTAAGTTTTAGTCTTTCTCTGATTAAAACACTAGATATAACATGAGAGTTATC... |
Task1_train_14272 | A genomic change on Chromosome 10 affects FAS (Fas cell surface death receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autoimmune lymphoproliferative syndrome, type 1a | AAAGAAAAATAGAGAAATTAGTGATTTGGCTTTTTGTTACTTCCTTTTACTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCT... | AAAGAAAAATAGAGAAATTAGTGATTTGGCTTTTTGTTACTTCCTTTTACTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCT... |
Task1_train_14273 | This variant affects the gene FAS (Fas cell surface death receptor) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autoimmune lymphoproliferative syndrome, type 1a | AGTGATTTGGCTTTTTGTTACTTCCTTTTACTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTAT... | AGTGATTTGGCTTTTTGTTACTTCCTTTTACTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTAT... |
Task1_train_14274 | This sequence change occurs on Chromosome 10, altering FAS (Fas cell surface death receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autoimmune lymphoproliferative syndrome type 1 | GCTTTTTGTTACTTCCTTTTACTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAG... | GCTTTTTGTTACTTCCTTTTACTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAG... |
Task1_train_14275 | This genomic variant is located on Chromosome 10, within the FAS (Fas cell surface death receptor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autoimmune lymphoproliferative syndrome type 1 | TACTTCCTTTTACTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACAT... | TACTTCCTTTTACTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACAT... |
Task1_train_14276 | Here is a variant affecting FAS (Fas cell surface death receptor) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC | CCTTTTACTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGC... | CCTTTTACTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGC... |
Task1_train_14277 | A genetic alteration is present in FAS (Fas cell surface death receptor) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGCCTGTTAC... | CTTTTTTGTTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGCCTGTTAC... |
Task1_train_14278 | This variant affects the gene FAS (Fas cell surface death receptor) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autoimmune lymphoproliferative syndrome, type 1a | TTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGCCTGTTACTTTCTTTA... | TTTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGCCTGTTACTTTCTTTA... |
Task1_train_14279 | Here is a mutation in FAS (Fas cell surface death receptor) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autoimmune lymphoproliferative syndrome type 1 | TTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGCCTGTTACTTTCTTTAT... | TTCTTGTTTGTTTCATTTTGTTTGAGATGGAGTCTTGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGCCTGTTACTTTCTTTAT... |
Task1_train_14280 | This alteration occurs within gene FAS (Fas cell surface death receptor) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Autoimmune lymphoproliferative syndrome type 1 | TGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGCCTGTTACTTTCTTTATTTAAACATTGCTTGTGTTTGTGGGTGCATAGGTTA... | TGCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGCCTGTTACTTTCTTTATTTAAACATTGCTTGTGTTTGTGGGTGCATAGGTTA... |
Task1_train_14281 | Gene FAS (Fas cell surface death receptor) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | GCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGCCTGTTACTTTCTTTATTTAAACATTGCTTGTGTTTGTGGGTGCATAGGTTAA... | GCTCCATAGCCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGCAGCCTCAAAGTCCTGGGCTCAAGTGATCCTCCTGCCTCAACTGTGACCCTGGGACTACAGGCATGCACCACCATGCCAGGTTAATTTTTTATTTTTATTTTTTATAGAGACAGGGTTCACTTTGTTGCCCAGGCTGGTCTCAAACTTTTGACCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTTCTGGGATTATAGGTGTGAGCCATCACATCCGGCCTGTTACTTTCTTTATTTAAACATTGCTTGTGTTTGTGGGTGCATAGGTTAA... |
Task1_train_14282 | Assess the clinical impact of this variant on gene LIPA (lipase A, lysosomal acid type), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Wolman disease | GCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACGTGGATGAAATTGGAAATCATCAATCTCAGTAAACTATCCCAAGAAAAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGTAGGAGGGATAGCTTTAGGAGATAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATTGTGCACATGTACCCTAAAACT... | GCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACGTGGATGAAATTGGAAATCATCAATCTCAGTAAACTATCCCAAGAAAAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGTAGGAGGGATAGCTTTAGGAGATAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATTGTGCACATGTACCCTAAAACT... |
Task1_train_14283 | Gene LIPA (lipase A, lysosomal acid type), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Wolman disease | TGACCAAGGAGAAAAGCAGAGACCTGAACCAAGAACGAAAATCCTCAATCTTTGTGAATTTGAGGATTTTTGAAGGTTTGGGGGCATTCCTTAAGTGGTAAGCATGTGCTGTTCAGCACGTCATGAACTATTTGCATTCCAGATGCCCCTCTTTTAGGCCACAACAAACTCTGCCCCTGAGGAACTGACATTTAACTCTCAGCCTTCTAGTTACTATAAAGGACCAGGAGCCTCAGGCCAGGCTCTTCCTAGTTCCTTAGAGACGAGCCCCAGGGAAAGGAGAACTATAGCACTGTTAGAGTTCCTGGGGCAACTGAAGA... | TGACCAAGGAGAAAAGCAGAGACCTGAACCAAGAACGAAAATCCTCAATCTTTGTGAATTTGAGGATTTTTGAAGGTTTGGGGGCATTCCTTAAGTGGTAAGCATGTGCTGTTCAGCACGTCATGAACTATTTGCATTCCAGATGCCCCTCTTTTAGGCCACAACAAACTCTGCCCCTGAGGAACTGACATTTAACTCTCAGCCTTCTAGTTACTATAAAGGACCAGGAGCCTCAGGCCAGGCTCTTCCTAGTTCCTTAGAGACGAGCCCCAGGGAAAGGAGAACTATAGCACTGTTAGAGTTCCTGGGGCAACTGAAGA... |
Task1_train_14284 | This genomic variant is located on Chromosome 10, within the LIPA (lipase A, lysosomal acid type) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Lysosomal acid lipase deficiency | TGACCAAGGAGAAAAGCAGAGACCTGAACCAAGAACGAAAATCCTCAATCTTTGTGAATTTGAGGATTTTTGAAGGTTTGGGGGCATTCCTTAAGTGGTAAGCATGTGCTGTTCAGCACGTCATGAACTATTTGCATTCCAGATGCCCCTCTTTTAGGCCACAACAAACTCTGCCCCTGAGGAACTGACATTTAACTCTCAGCCTTCTAGTTACTATAAAGGACCAGGAGCCTCAGGCCAGGCTCTTCCTAGTTCCTTAGAGACGAGCCCCAGGGAAAGGAGAACTATAGCACTGTTAGAGTTCCTGGGGCAACTGAAGA... | TGACCAAGGAGAAAAGCAGAGACCTGAACCAAGAACGAAAATCCTCAATCTTTGTGAATTTGAGGATTTTTGAAGGTTTGGGGGCATTCCTTAAGTGGTAAGCATGTGCTGTTCAGCACGTCATGAACTATTTGCATTCCAGATGCCCCTCTTTTAGGCCACAACAAACTCTGCCCCTGAGGAACTGACATTTAACTCTCAGCCTTCTAGTTACTATAAAGGACCAGGAGCCTCAGGCCAGGCTCTTCCTAGTTCCTTAGAGACGAGCCCCAGGGAAAGGAGAACTATAGCACTGTTAGAGTTCCTGGGGCAACTGAAGA... |
Task1_train_14285 | This gene mutation involves KIF11 (kinesin family member 11) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AAAAAAATCAAATGTTTAGCCAACCGGGATTAGTTTAGATTATACGACCCGACCCCAGCCAATGGGAAAAAGATACAGGGGCAGGACTTGCGTCAAAAATAGACTCCTGCCCCTTTGTTCAGGTGTGCTCTCAAGGCGACTGGCCAAAAAGGCACCCCTCTGCGCAAAAATAAAATTGCTTTGCTAAAAATCCTTTGTTCAAGTGTTCAATTTCCTTAAGATTTTAAAAGTTATTCATAACAATAGGCTCCTGTTTCAGTATTTCCTGGTGCGGCGTACCACACCTACAGCGGTCGAGTCACGCCAGGCACTGCCAAGAC... | AAAAAAATCAAATGTTTAGCCAACCGGGATTAGTTTAGATTATACGACCCGACCCCAGCCAATGGGAAAAAGATACAGGGGCAGGACTTGCGTCAAAAATAGACTCCTGCCCCTTTGTTCAGGTGTGCTCTCAAGGCGACTGGCCAAAAAGGCACCCCTCTGCGCAAAAATAAAATTGCTTTGCTAAAAATCCTTTGTTCAAGTGTTCAATTTCCTTAAGATTTTAAAAGTTATTCATAACAATAGGCTCCTGTTTCAGTATTTCCTGGTGCGGCGTACCACACCTACAGCGGTCGAGTCACGCCAGGCACTGCCAAGAC... |
Task1_train_14286 | Gene MYOF (myoferlin) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Angioedema, hereditary, 7 | AATCATTTCTTTTCTGAATAAAGAAGTAGGAAAAAAAAAAGGACAAACGCCAGAGCTGGGATTAGAGCCGTAGGGAATGAAGAGGTAGTGTGGTAAGACAGGCCTGGGCTGGAGAACAGAGCAGGAGACATAGGCCTGAGGAATCCCAGAAATGTGTCTCCTCAGCACAGTTGGCCAAGACTCTGAAAAGTTCCCTAAATATATCATTTCTCCCCACAGCCCAGTCATGGAGTTTTGTGGCATTTGAGATGATTGTCAAGGTATCATGTATTTTTGAGGAGTGTTATAAAAGAGGGCAGTAGAACAGGCTAAGTTCTCAG... | AATCATTTCTTTTCTGAATAAAGAAGTAGGAAAAAAAAAAGGACAAACGCCAGAGCTGGGATTAGAGCCGTAGGGAATGAAGAGGTAGTGTGGTAAGACAGGCCTGGGCTGGAGAACAGAGCAGGAGACATAGGCCTGAGGAATCCCAGAAATGTGTCTCCTCAGCACAGTTGGCCAAGACTCTGAAAAGTTCCCTAAATATATCATTTCTCCCCACAGCCCAGTCATGGAGTTTTGTGGCATTTGAGATGATTGTCAAGGTATCATGTATTTTTGAGGAGTGTTATAAAAGAGGGCAGTAGAACAGGCTAAGTTCTCAG... |
Task1_train_14287 | Given a variant located on Chromosome 10 and affecting RBP4 (retinol binding protein 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Unilateral microphthalmos | AATGAAGGTTTTATGGGAACTGAGGGAAGATGGGGAGAGAAGGGCAAATTAAACTCCTAAGATAAATAGAGCTGAAGACTGAGAGCTAATCAGAAGTTCTCAGATGAAACTAGATTCTTGATATTGCTACAAAAGGTTTCTTTCTGATCTGCCATCGCAGTAACCTGGAAAATACAAAACAAAGCCATTAACGACAGAAAGTGGACCCAGTTTTTATGTAGATAATGAACATCATGATGGCCTTAGAGCTGGCTTCATTCAAATGCTTCTTAATTCAAATGCATCACAGCAGATTGCAACCCTTACGGATACAGGTGGCT... | AATGAAGGTTTTATGGGAACTGAGGGAAGATGGGGAGAGAAGGGCAAATTAAACTCCTAAGATAAATAGAGCTGAAGACTGAGAGCTAATCAGAAGTTCTCAGATGAAACTAGATTCTTGATATTGCTACAAAAGGTTTCTTTCTGATCTGCCATCGCAGTAACCTGGAAAATACAAAACAAAGCCATTAACGACAGAAAGTGGACCCAGTTTTTATGTAGATAATGAACATCATGATGGCCTTAGAGCTGGCTTCATTCAAATGCTTCTTAATTCAAATGCATCACAGCAGATTGCAACCCTTACGGATACAGGTGGCT... |
Task1_train_14288 | Consider a variant on Chromosome 10 in gene RBP4, FFAR4 (retinol binding protein 4| free fatty acid receptor 4). Determine its clinical classification and disease relevance. | Pathogenic; Progressive retinal dystrophy due to retinol transport defect | GGATTTGAACTTAGGAGGTCTAATTTTAACCGGGCGGGCTTAACTACAACACTGCACAGCTTCTTTTTTGAAATGTAACCTAAGAAGGAATTTATCCTTAAGCCTTCCATATTATAGTCATCTCACTTAATATCTATAGCAATCACTTTCAAGATGGCAGTACTTTTTCGCCCTCCAAATGAAATCCTGATAAAATACCAATATACAAGAGACAAAAGCAAACTAATCTGGTTTGATAGGGGGAGGAGGCAAGAAACAAAATGCTCCCTTCTCATTGGGTCCTCTCTGACCCTGTGCCTAAAGGCATTGCCAACAGAATC... | GGATTTGAACTTAGGAGGTCTAATTTTAACCGGGCGGGCTTAACTACAACACTGCACAGCTTCTTTTTTGAAATGTAACCTAAGAAGGAATTTATCCTTAAGCCTTCCATATTATAGTCATCTCACTTAATATCTATAGCAATCACTTTCAAGATGGCAGTACTTTTTCGCCCTCCAAATGAAATCCTGATAAAATACCAATATACAAGAGACAAAAGCAAACTAATCTGGTTTGATAGGGGGAGGAGGCAAGAAACAAAATGCTCCCTTCTCATTGGGTCCTCTCTGACCCTGTGCCTAAAGGCATTGCCAACAGAATC... |
Task1_train_14289 | A variant on Chromosome 10 in gene RBP4 (retinol binding protein 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Bilateral microphthalmos | TGGTTTGATAGGGGGAGGAGGCAAGAAACAAAATGCTCCCTTCTCATTGGGTCCTCTCTGACCCTGTGCCTAAAGGCATTGCCAACAGAATCCTAGTCCATTAAGGAGCACATCTCAAAATGCTATAGAACATATGTGTTTCCTCTTTCTAAAAATTAATAATCTTGTACCTCTGGTATTGATTTTTGTAATCCATTATCAGAAAAGTATATTTTACTCTAAATAAATCACTTTGGGATGTTTTGCTGCACTATTTGAAATAATTTTTATTATTTCCAAGGATAATAAATAAAAATAAAGCTTCTAAGCTTTTTCTCTAC... | TGGTTTGATAGGGGGAGGAGGCAAGAAACAAAATGCTCCCTTCTCATTGGGTCCTCTCTGACCCTGTGCCTAAAGGCATTGCCAACAGAATCCTAGTCCATTAAGGAGCACATCTCAAAATGCTATAGAACATATGTGTTTCCTCTTTCTAAAAATTAATAATCTTGTACCTCTGGTATTGATTTTTGTAATCCATTATCAGAAAAGTATATTTTACTCTAAATAAATCACTTTGGGATGTTTTGCTGCACTATTTGAAATAATTTTTATTATTTCCAAGGATAATAAATAAAAATAAAGCTTCTAAGCTTTTTCTCTAC... |
Task1_train_14290 | A variant was discovered on Chromosome 10, affecting PDE6C (phosphodiesterase 6C). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | CTCTTTCTGTACCCCTGGGAAAACCATGTTTCCCACCAAGAATCTCTCAATTCATGACAGGGAATGTGCAACCTCAACGGATCTCTCTTTCTTTTGTGACTATTAAGATTACTATCTCTCAGGCTGACACAGGTGGATCACCTGAGGTTGGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGCACCCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGACGGAGGTTGCAGTGAGCTGAGATCGCACCA... | CTCTTTCTGTACCCCTGGGAAAACCATGTTTCCCACCAAGAATCTCTCAATTCATGACAGGGAATGTGCAACCTCAACGGATCTCTCTTTCTTTTGTGACTATTAAGATTACTATCTCTCAGGCTGACACAGGTGGATCACCTGAGGTTGGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGCACCCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGACGGAGGTTGCAGTGAGCTGAGATCGCACCA... |
Task1_train_14291 | Gene PDE6C (phosphodiesterase 6C) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Achromatopsia | ATGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGCACCCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGACGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGCAATAGAGCGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAAGATTACTATCTAGAGAGGTAAATCTTAGAGAACTCAATGAAACTCATAGGGTTTCTATTTTTGAAGCAAACTTAAATGTGGGTGTAACAATAATTTTTAGAGTCACTGTA... | ATGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGCACCCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGACGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGCAATAGAGCGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAAGATTACTATCTAGAGAGGTAAATCTTAGAGAACTCAATGAAACTCATAGGGTTTCTATTTTTGAAGCAAACTTAAATGTGGGTGTAACAATAATTTTTAGAGTCACTGTA... |
Task1_train_14292 | This gene mutation involves PDE6C (phosphodiesterase 6C) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Achromatopsia 5 | ATCTGCAGGTGATTCTGAGGCATATCTCAGGACTGCTAATCTCATTTGAGCTCTGTGAGTTCTATTGGCCAACCAGCCCTTGTTCCCTGGTGGAAACTCTGGCCTGGAAATGACACACCCAGAAAATTCTCACATTTTTTTCTACGGGAAACCAGACAGAATCCAGTCTGCAAGGTTTGTGCTGCTTTTAGAAGCACTGCCAACACAGGGAAATGAAAATAATACAACTGTGGAAGGAATACCGCACTAATTTTGGCCAACGAGTCTCAGAGTTAAGGCTGAAGTTCAGTTCTAATTGAAGAAGTCCTAGGTTCAAAGGG... | ATCTGCAGGTGATTCTGAGGCATATCTCAGGACTGCTAATCTCATTTGAGCTCTGTGAGTTCTATTGGCCAACCAGCCCTTGTTCCCTGGTGGAAACTCTGGCCTGGAAATGACACACCCAGAAAATTCTCACATTTTTTTCTACGGGAAACCAGACAGAATCCAGTCTGCAAGGTTTGTGCTGCTTTTAGAAGCACTGCCAACACAGGGAAATGAAAATAATACAACTGTGGAAGGAATACCGCACTAATTTTGGCCAACGAGTCTCAGAGTTAAGGCTGAAGTTCAGTTCTAATTGAAGAAGTCCTAGGTTCAAAGGG... |
Task1_train_14293 | Consider a variant on Chromosome 10 in gene PDE6C (phosphodiesterase 6C). Determine its clinical classification and disease relevance. | Pathogenic; Achromatopsia 5 | GCACTAGGAGAGCTGGGTTCTGATCTTGGTTCTGGGACTTTGTAGCTGAGTATGTTGGTTAGGATTCTTTTGGCTATAAGAAACATCAGACACAGCTAAAAGCATCTCTAACAATATGATATTTATTCTCCTACTTAACAAGGTAGGGCAGCGCTAGTACTGGTTGATTCAGAGATCAGTGCAGTCATTAAAGTCCAGGTGCTTTCTCTTTCTTCCTGGCAAGGTCTCTGCTACCTGCAGCGTGCTGGTGAGGCCTCCTCTTATGGTGGAAAGATGGCTGTTGCAGCTCAAATCATTGGCACATAGGCATGACACAACTG... | GCACTAGGAGAGCTGGGTTCTGATCTTGGTTCTGGGACTTTGTAGCTGAGTATGTTGGTTAGGATTCTTTTGGCTATAAGAAACATCAGACACAGCTAAAAGCATCTCTAACAATATGATATTTATTCTCCTACTTAACAAGGTAGGGCAGCGCTAGTACTGGTTGATTCAGAGATCAGTGCAGTCATTAAAGTCCAGGTGCTTTCTCTTTCTTCCTGGCAAGGTCTCTGCTACCTGCAGCGTGCTGGTGAGGCCTCCTCTTATGGTGGAAAGATGGCTGTTGCAGCTCAAATCATTGGCACATAGGCATGACACAACTG... |
Task1_train_14294 | The gene PDE6C (phosphodiesterase 6C), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Achromatopsia 5 | GAAACACTCCTAAACTTTTGTGCCTGCATCCCTCGACTAGACCCTAAGCATCTTGAGGGCAAGACCTGTGATTTATTCTTTGTACCTTCAGCAACTGCCCCAGTTCCTGGCATACCACAGAGGCTTGACAAATGTTTACTCAACTCAACACACCACAGAATGAAAGACTATCTTCATGGATCAGTCAGAAAAACAAAAACCACACTAGTATTTTAACGGGAGAATTTTATTTAAGGAATTAGCTAAACAGGTGTTAGAAGATAGAAAAAGTGTAAAGGGAACAGTGAGGTAACATAGTGGTAAGAAGCACTTCCCATCAC... | GAAACACTCCTAAACTTTTGTGCCTGCATCCCTCGACTAGACCCTAAGCATCTTGAGGGCAAGACCTGTGATTTATTCTTTGTACCTTCAGCAACTGCCCCAGTTCCTGGCATACCACAGAGGCTTGACAAATGTTTACTCAACTCAACACACCACAGAATGAAAGACTATCTTCATGGATCAGTCAGAAAAACAAAAACCACACTAGTATTTTAACGGGAGAATTTTATTTAAGGAATTAGCTAAACAGGTGTTAGAAGATAGAAAAAGTGTAAAGGGAACAGTGAGGTAACATAGTGGTAAGAAGCACTTCCCATCAC... |
Task1_train_14295 | Given this context: Chromosome 10, gene PDE6C (phosphodiesterase 6C) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Achromatopsia 5 | GTGTAAATAGAGCATGGCTGTCCCCTGAAAAACATTAAACTTACTAAGGGGAGTGACCTCCCTTTCCCTATGTTTGTGTCCTCCTCAGTGCACTAGTAAGGACATACTACACATTCAAATAAATACCCATTGAACTGAATCTCTCCTGCAGATCTGTCTGGTAGGCCCACATAGTTGTTGCTCATTTCTGCCTCTTAGCACTTTCTCACCCACATGGAATCGTCTCTCCGCTTCCTTCTGCCAGCTCAGCTGCATGCATGTCCCTCCAGCATCTCTCCTCCTTTAATTTCCCCACCTGTCCAAGGACATTCAGTTTCTCC... | GTGTAAATAGAGCATGGCTGTCCCCTGAAAAACATTAAACTTACTAAGGGGAGTGACCTCCCTTTCCCTATGTTTGTGTCCTCCTCAGTGCACTAGTAAGGACATACTACACATTCAAATAAATACCCATTGAACTGAATCTCTCCTGCAGATCTGTCTGGTAGGCCCACATAGTTGTTGCTCATTTCTGCCTCTTAGCACTTTCTCACCCACATGGAATCGTCTCTCCGCTTCCTTCTGCCAGCTCAGCTGCATGCATGTCCCTCCAGCATCTCTCCTCCTTTAATTTCCCCACCTGTCCAAGGACATTCAGTTTCTCC... |
Task1_train_14296 | Given this context: Chromosome 10, gene PDE6C (phosphodiesterase 6C) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Achromatopsia 5 | CAACTTCTTTCCCAAAGAAGTAAAGTCTATTTTCTCCCAACAAAACTTGCCCAAAGATCACTTTATAAAAGAGAAAAAAGCAAAGCTACTTTAGCTTTCATCTCTCTTGGTCTCCACCTTCTTGGGCCCTAGAGCACTTCAGGGGAACCCTAGACTCCAAGAGTAAACAGCACTGGCCTAGAGAATCAAATTCAAGCTTCCTGGCAAAATTTACATGGCCTGTCACTGCCTGTCCTCAACTCACACTCCCAGCATCAATTCCCATCACCTTCTCCCATGTCATTGCTTCACACTCTAAGCCTGCACTCACAGAAGCTTTG... | CAACTTCTTTCCCAAAGAAGTAAAGTCTATTTTCTCCCAACAAAACTTGCCCAAAGATCACTTTATAAAAGAGAAAAAAGCAAAGCTACTTTAGCTTTCATCTCTCTTGGTCTCCACCTTCTTGGGCCCTAGAGCACTTCAGGGGAACCCTAGACTCCAAGAGTAAACAGCACTGGCCTAGAGAATCAAATTCAAGCTTCCTGGCAAAATTTACATGGCCTGTCACTGCCTGTCCTCAACTCACACTCCCAGCATCAATTCCCATCACCTTCTCCCATGTCATTGCTTCACACTCTAAGCCTGCACTCACAGAAGCTTTG... |
Task1_train_14297 | Assess the clinical impact of this variant on gene LGI1 (leucine rich glioma inactivated 1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal dominant epilepsy with auditory features | ACTCCCCTGCCTGATTCTACAGAGGTGTCCCATTGCTCTGCAGATCATGAGCCAGACTTTATGTATGCCGTTCCCTCTACCTGGAGTGTTCTCACGAACCCTCTCTGTAACTCCTCCTTACCTCTGAACTCAGCTCAATCACTGCTACTTCAGGGAATTGGCCCCTGACTTCCTTGACTAGGTTAGATCTCTTTATTAGAACTGCAAGGTGCAACTGTAAGTTTATTTGGCTGGGCATGACCATGAATGGACTGTACACTCTGCTGTTGCTGGCATAGCCATCCAGGTTGCCCACTACATGCACAATGCTACACAGGCCC... | ACTCCCCTGCCTGATTCTACAGAGGTGTCCCATTGCTCTGCAGATCATGAGCCAGACTTTATGTATGCCGTTCCCTCTACCTGGAGTGTTCTCACGAACCCTCTCTGTAACTCCTCCTTACCTCTGAACTCAGCTCAATCACTGCTACTTCAGGGAATTGGCCCCTGACTTCCTTGACTAGGTTAGATCTCTTTATTAGAACTGCAAGGTGCAACTGTAAGTTTATTTGGCTGGGCATGACCATGAATGGACTGTACACTCTGCTGTTGCTGGCATAGCCATCCAGGTTGCCCACTACATGCACAATGCTACACAGGCCC... |
Task1_train_14298 | A mutation in LGI1 (leucine rich glioma inactivated 1), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Epilepsy, familial temporal lobe, 1 | TATTTAATCCAGTAGTCTCGTAATGATCAGAATTTAGTGTAAGGTGAATTCCTCTTTGTCCAACAAATATTTATTCAGTGTCCACTAGAGGACAGGCGCTGTATCACAGGTGCTAGGGATAAGAAATGAACAAGCAGACAAAAAATCTAGCAGAAATCCTCTCTTTTCTTCCCGTGACGTGCATGGGCAAGTTCTGCCCACTAATATTCATTTCCCACTATGTCCTGCATCTGATTTAACATAAAGGGAAGTAGCAATGGAAACTATTTCTTCTGGCAACTTGGAATATGAGAAGTCCCTGGTCCTTGGGCCATTTTTCA... | TATTTAATCCAGTAGTCTCGTAATGATCAGAATTTAGTGTAAGGTGAATTCCTCTTTGTCCAACAAATATTTATTCAGTGTCCACTAGAGGACAGGCGCTGTATCACAGGTGCTAGGGATAAGAAATGAACAAGCAGACAAAAAATCTAGCAGAAATCCTCTCTTTTCTTCCCGTGACGTGCATGGGCAAGTTCTGCCCACTAATATTCATTTCCCACTATGTCCTGCATCTGATTTAACATAAAGGGAAGTAGCAATGGAAACTATTTCTTCTGGCAACTTGGAATATGAGAAGTCCCTGGTCCTTGGGCCATTTTTCA... |
Task1_train_14299 | Given this variant in gene LGI1 (leucine rich glioma inactivated 1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal dominant epilepsy with auditory features | AGGTGAATTCCTCTTTGTCCAACAAATATTTATTCAGTGTCCACTAGAGGACAGGCGCTGTATCACAGGTGCTAGGGATAAGAAATGAACAAGCAGACAAAAAATCTAGCAGAAATCCTCTCTTTTCTTCCCGTGACGTGCATGGGCAAGTTCTGCCCACTAATATTCATTTCCCACTATGTCCTGCATCTGATTTAACATAAAGGGAAGTAGCAATGGAAACTATTTCTTCTGGCAACTTGGAATATGAGAAGTCCCTGGTCCTTGGGCCATTTTTCAAATCAGTGAGTGTGGGAGGTATAATATTTGTGTGTACCAAT... | AGGTGAATTCCTCTTTGTCCAACAAATATTTATTCAGTGTCCACTAGAGGACAGGCGCTGTATCACAGGTGCTAGGGATAAGAAATGAACAAGCAGACAAAAAATCTAGCAGAAATCCTCTCTTTTCTTCCCGTGACGTGCATGGGCAAGTTCTGCCCACTAATATTCATTTCCCACTATGTCCTGCATCTGATTTAACATAAAGGGAAGTAGCAATGGAAACTATTTCTTCTGGCAACTTGGAATATGAGAAGTCCCTGGTCCTTGGGCCATTTTTCAAATCAGTGAGTGTGGGAGGTATAATATTTGTGTGTACCAAT... |
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