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_11000 | With a mutation on Chromosome 7 in gene LOC129998021, TWIST1 (ATAC-STARR-seq lymphoblastoid active region 25682| twist family bHLH transcription factor 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Saethre-Chotzen syndrome | GTATATTATTCCACAGCCTTATATTCTTTACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATA... | GTATATTATTCCACAGCCTTATATTCTTTACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATA... |
Task1_train_11001 | This variant affects the gene LOC129998021, TWIST1 (ATAC-STARR-seq lymphoblastoid active region 25682| twist family bHLH transcription factor 1) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; TWIST1-related craniosynostosis | GTATATTATTCCACAGCCTTATATTCTTTACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATA... | GTATATTATTCCACAGCCTTATATTCTTTACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATA... |
Task1_train_11002 | A genomic change on Chromosome 7 affects LOC129998021, TWIST1 (ATAC-STARR-seq lymphoblastoid active region 25682| twist family bHLH transcription factor 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; TWIST1-related craniosynostosis | TTCCACAGCCTTATATTCTTTACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGA... | TTCCACAGCCTTATATTCTTTACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGA... |
Task1_train_11003 | Chromosome 7 houses a mutation in gene LOC129998021, TWIST1 (ATAC-STARR-seq lymphoblastoid active region 25682| twist family bHLH transcription factor 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Saethre-Chotzen syndrome | TTCCACAGCCTTATATTCTTTACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGA... | TTCCACAGCCTTATATTCTTTACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGA... |
Task1_train_11004 | Here is a mutation in LOC129998021, TWIST1 (ATAC-STARR-seq lymphoblastoid active region 25682| twist family bHLH transcription factor 1) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Saethre-Chotzen syndrome | ACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCC... | ACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCC... |
Task1_train_11005 | A change on Chromosome 7 affects gene LOC129998021, TWIST1 (ATAC-STARR-seq lymphoblastoid active region 25682| twist family bHLH transcription factor 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; TWIST1-related craniosynostosis | ACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCC... | ACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCC... |
Task1_train_11006 | A mutation found in LOC129998021, TWIST1 (ATAC-STARR-seq lymphoblastoid active region 25682| twist family bHLH transcription factor 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; TWIST1-related craniosynostosis | GAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTA... | GAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTA... |
Task1_train_11007 | This mutation is located in gene LOC129998021, TWIST1 (ATAC-STARR-seq lymphoblastoid active region 25682| twist family bHLH transcription factor 1) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Saethre-Chotzen syndrome | GAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTA... | GAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTA... |
Task1_train_11008 | The variant affects gene TWIST1 (twist family bHLH transcription factor 1), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Saethre-Chotzen syndrome | ACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGA... | ACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGA... |
Task1_train_11009 | Gene TWIST1 (twist family bHLH transcription factor 1), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; TWIST1-related craniosynostosis | CGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTG... | CGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTG... |
Task1_train_11010 | This sequence variant lies in TWIST1 (twist family bHLH transcription factor 1) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Saethre-Chotzen syndrome | CGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTG... | CGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTG... |
Task1_train_11011 | This sequence change occurs on Chromosome 7, altering TWIST1 (twist family bHLH transcription factor 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Saethre-Chotzen syndrome | ATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACA... | ATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACA... |
Task1_train_11012 | Given this context: Chromosome 7, gene TWIST1 (twist family bHLH transcription factor 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Sweeney-Cox syndrome | TTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAG... | TTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAG... |
Task1_train_11013 | Here is a mutation in TWIST1 (twist family bHLH transcription factor 1) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Sweeney-Cox syndrome | TCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGA... | TCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGA... |
Task1_train_11014 | A variant was discovered in gene TWIST1 (twist family bHLH transcription factor 1), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Saethre-Chotzen syndrome | TCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGA... | TCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGA... |
Task1_train_11015 | A genomic change on Chromosome 7 affects TWIST1 (twist family bHLH transcription factor 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; TWIST1-related craniosynostosis | TCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGA... | TCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGA... |
Task1_train_11016 | Gene TWIST1 (twist family bHLH transcription factor 1), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; TWIST1-related craniosynostosis | TGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGAT... | TGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGAT... |
Task1_train_11017 | A mutation on Chromosome 7 affecting TWIST1 (twist family bHLH transcription factor 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Saethre-Chotzen syndrome | TGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGAT... | TGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGAT... |
Task1_train_11018 | Chromosome 7 houses a mutation in gene DNAH11 (dynein axonemal heavy chain 11). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Primary ciliary dyskinesia | AGTTTATTAACTTTGAAATTAGAAGAATCACCATGTGGGTTTTTTGGGAGCTGAAAGGAAGATGAAAGTTCATTTTGATAGTGTGAATTGTGTTGGATAAAATGTTTCCATTTCCATTTCATTCTTTGAATTATTTACTAATTGTTTACATTAACAAAATGATGCCCTTCAAATTCTTCCATTATATTTCATTTGATGCTGACCATCCCTTTGTGAGGTAGGCAGGGGAGATAGTGTCTCCTTCTTCCATATGTGGATGGGTTCAGAGACTTAAGTCAACTGTGTATTGACTAGAAGGATGCCGGTTAAGCTGCTGTTAG... | AGTTTATTAACTTTGAAATTAGAAGAATCACCATGTGGGTTTTTTGGGAGCTGAAAGGAAGATGAAAGTTCATTTTGATAGTGTGAATTGTGTTGGATAAAATGTTTCCATTTCCATTTCATTCTTTGAATTATTTACTAATTGTTTACATTAACAAAATGATGCCCTTCAAATTCTTCCATTATATTTCATTTGATGCTGACCATCCCTTTGTGAGGTAGGCAGGGGAGATAGTGTCTCCTTCTTCCATATGTGGATGGGTTCAGAGACTTAAGTCAACTGTGTATTGACTAGAAGGATGCCGGTTAAGCTGCTGTTAG... |
Task1_train_11019 | A variant was discovered in gene DNAH11 (dynein axonemal heavy chain 11), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Primary ciliary dyskinesia | GGAGAACTCAGGAAACTGACAATCATGGAGGAAGGCAAGGGGCAAGCACGGACCTTCTTCACATGGTGGCAGGAGAGAGAGAGAATGAAGGGGAAAGTGCCACACACTTTTAAACCATCGGATCTCGTGAGAACAGCAAGGAGGAAATCCACCCACTTGATGATCCAATCACCTCCCACTAAGCCCTCCTCTAATTTGACATGAGATTTGGGTGGGGACACAAATCCAAACCATATCAATACATATCACCATGTGTATGTGCAATATGACTTGGGAAATAACAACAACAACAACAAAAAACCCAAAACTTTACTCTGTGT... | GGAGAACTCAGGAAACTGACAATCATGGAGGAAGGCAAGGGGCAAGCACGGACCTTCTTCACATGGTGGCAGGAGAGAGAGAGAATGAAGGGGAAAGTGCCACACACTTTTAAACCATCGGATCTCGTGAGAACAGCAAGGAGGAAATCCACCCACTTGATGATCCAATCACCTCCCACTAAGCCCTCCTCTAATTTGACATGAGATTTGGGTGGGGACACAAATCCAAACCATATCAATACATATCACCATGTGTATGTGCAATATGACTTGGGAAATAACAACAACAACAACAAAAAACCCAAAACTTTACTCTGTGT... |
Task1_train_11020 | A mutation in DNAH11 (dynein axonemal heavy chain 11), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not specified | GGAGAACTCAGGAAACTGACAATCATGGAGGAAGGCAAGGGGCAAGCACGGACCTTCTTCACATGGTGGCAGGAGAGAGAGAGAATGAAGGGGAAAGTGCCACACACTTTTAAACCATCGGATCTCGTGAGAACAGCAAGGAGGAAATCCACCCACTTGATGATCCAATCACCTCCCACTAAGCCCTCCTCTAATTTGACATGAGATTTGGGTGGGGACACAAATCCAAACCATATCAATACATATCACCATGTGTATGTGCAATATGACTTGGGAAATAACAACAACAACAACAAAAAACCCAAAACTTTACTCTGTGT... | GGAGAACTCAGGAAACTGACAATCATGGAGGAAGGCAAGGGGCAAGCACGGACCTTCTTCACATGGTGGCAGGAGAGAGAGAGAATGAAGGGGAAAGTGCCACACACTTTTAAACCATCGGATCTCGTGAGAACAGCAAGGAGGAAATCCACCCACTTGATGATCCAATCACCTCCCACTAAGCCCTCCTCTAATTTGACATGAGATTTGGGTGGGGACACAAATCCAAACCATATCAATACATATCACCATGTGTATGTGCAATATGACTTGGGAAATAACAACAACAACAACAAAAAACCCAAAACTTTACTCTGTGT... |
Task1_train_11021 | The gene DNAH11 (dynein axonemal heavy chain 11), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Primary ciliary dyskinesia 7 | GGAGAACTCAGGAAACTGACAATCATGGAGGAAGGCAAGGGGCAAGCACGGACCTTCTTCACATGGTGGCAGGAGAGAGAGAGAATGAAGGGGAAAGTGCCACACACTTTTAAACCATCGGATCTCGTGAGAACAGCAAGGAGGAAATCCACCCACTTGATGATCCAATCACCTCCCACTAAGCCCTCCTCTAATTTGACATGAGATTTGGGTGGGGACACAAATCCAAACCATATCAATACATATCACCATGTGTATGTGCAATATGACTTGGGAAATAACAACAACAACAACAAAAAACCCAAAACTTTACTCTGTGT... | GGAGAACTCAGGAAACTGACAATCATGGAGGAAGGCAAGGGGCAAGCACGGACCTTCTTCACATGGTGGCAGGAGAGAGAGAGAATGAAGGGGAAAGTGCCACACACTTTTAAACCATCGGATCTCGTGAGAACAGCAAGGAGGAAATCCACCCACTTGATGATCCAATCACCTCCCACTAAGCCCTCCTCTAATTTGACATGAGATTTGGGTGGGGACACAAATCCAAACCATATCAATACATATCACCATGTGTATGTGCAATATGACTTGGGAAATAACAACAACAACAACAAAAAACCCAAAACTTTACTCTGTGT... |
Task1_train_11022 | A mutation in DNAH11 (dynein axonemal heavy chain 11), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Primary ciliary dyskinesia | GAACTCAGGAAACTGACAATCATGGAGGAAGGCAAGGGGCAAGCACGGACCTTCTTCACATGGTGGCAGGAGAGAGAGAGAATGAAGGGGAAAGTGCCACACACTTTTAAACCATCGGATCTCGTGAGAACAGCAAGGAGGAAATCCACCCACTTGATGATCCAATCACCTCCCACTAAGCCCTCCTCTAATTTGACATGAGATTTGGGTGGGGACACAAATCCAAACCATATCAATACATATCACCATGTGTATGTGCAATATGACTTGGGAAATAACAACAACAACAACAAAAAACCCAAAACTTTACTCTGTGTGAT... | GAACTCAGGAAACTGACAATCATGGAGGAAGGCAAGGGGCAAGCACGGACCTTCTTCACATGGTGGCAGGAGAGAGAGAGAATGAAGGGGAAAGTGCCACACACTTTTAAACCATCGGATCTCGTGAGAACAGCAAGGAGGAAATCCACCCACTTGATGATCCAATCACCTCCCACTAAGCCCTCCTCTAATTTGACATGAGATTTGGGTGGGGACACAAATCCAAACCATATCAATACATATCACCATGTGTATGTGCAATATGACTTGGGAAATAACAACAACAACAACAAAAAACCCAAAACTTTACTCTGTGTGAT... |
Task1_train_11023 | This variant impacts the gene DNAH11 (dynein axonemal heavy chain 11) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Primary ciliary dyskinesia | ATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGTCCAGCCCGGGCAATGTATTGAGATACCTGTCCCCCAAAAAGAGCCAATTATTTCATTCATCTATTCAGAAAATACATATTATTTACCTACTTTTTCCCAAGCATTGTGTAGGGTATGTTTTTCATTTGCAGATATGAAAGAAAGACTCTATGATTTATAAATGGAAGATTAAGCTACAGTTCAGTAGTTGAACAAATTACCTATGATGTGAGTGCATCTTGCTATTTCCTAAAAGGAATACAGGCATGAATACGATTTAGAGA... | ATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGTCCAGCCCGGGCAATGTATTGAGATACCTGTCCCCCAAAAAGAGCCAATTATTTCATTCATCTATTCAGAAAATACATATTATTTACCTACTTTTTCCCAAGCATTGTGTAGGGTATGTTTTTCATTTGCAGATATGAAAGAAAGACTCTATGATTTATAAATGGAAGATTAAGCTACAGTTCAGTAGTTGAACAAATTACCTATGATGTGAGTGCATCTTGCTATTTCCTAAAAGGAATACAGGCATGAATACGATTTAGAGA... |
Task1_train_11024 | This mutation occurs in DNAH11 (dynein axonemal heavy chain 11) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Primary ciliary dyskinesia 7 | CACCCATGAAATATTAAAGTTGAAACAAACCATTGAGGTCATCATTATAGTTCAACTTCTTTTCCCCATCCAGGACCCTGTTCTACGGCACCCCAATAAGCAGTCTCCTTTTGAATATTTCCAACAGTGTGGGATTTATACTCTTAGGAAAGGCAACTGGATTGTTGGTAACTGGATTTGACCCAAATCCAATTTTTCATATCATGTGTTGCTTTAAGAACTAGGCGAAGGATTCTTTATTTCCTCTGGAATATAAAGAGTAGCATTGATGAGAGACCCTCATGGAAAGAACAATGGGAGCAAAGATACCTAGGTTTGGT... | CACCCATGAAATATTAAAGTTGAAACAAACCATTGAGGTCATCATTATAGTTCAACTTCTTTTCCCCATCCAGGACCCTGTTCTACGGCACCCCAATAAGCAGTCTCCTTTTGAATATTTCCAACAGTGTGGGATTTATACTCTTAGGAAAGGCAACTGGATTGTTGGTAACTGGATTTGACCCAAATCCAATTTTTCATATCATGTGTTGCTTTAAGAACTAGGCGAAGGATTCTTTATTTCCTCTGGAATATAAAGAGTAGCATTGATGAGAGACCCTCATGGAAAGAACAATGGGAGCAAAGATACCTAGGTTTGGT... |
Task1_train_11025 | A mutation in DNAH11 (dynein axonemal heavy chain 11), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Primary ciliary dyskinesia | TTATATGACTAATTCTTTTGGTAAGAATATGTGCACAGAAAAAGATTGGCAAAAAGTAAGAGTAATTGGTCGTCTCTGAGTAATGGAATATTTATTTTCTTTATTGTGTTTCTCTAAATTTGCAAATTTTTCTCTGAATAATTACTCTTTACTCAGGCAAAATAGCTCCACTTAAAATATGAAGCTGTGTATATGTATAAGTTATAAAAGAATCTTGGTTAGCCAGCTCTCAATTCTTACTAGCATATTTTAAGACTTTGTTTTTGTTCTTGCTTTCACTCTGTTTCCATTCTTTGTAATCATATACCAAATAAATAGGC... | TTATATGACTAATTCTTTTGGTAAGAATATGTGCACAGAAAAAGATTGGCAAAAAGTAAGAGTAATTGGTCGTCTCTGAGTAATGGAATATTTATTTTCTTTATTGTGTTTCTCTAAATTTGCAAATTTTTCTCTGAATAATTACTCTTTACTCAGGCAAAATAGCTCCACTTAAAATATGAAGCTGTGTATATGTATAAGTTATAAAAGAATCTTGGTTAGCCAGCTCTCAATTCTTACTAGCATATTTTAAGACTTTGTTTTTGTTCTTGCTTTCACTCTGTTTCCATTCTTTGTAATCATATACCAAATAAATAGGC... |
Task1_train_11026 | With a mutation on Chromosome 7 in gene DNAH11 (dynein axonemal heavy chain 11), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not specified | CAAACTTAATTTCCTTACTATTTCCTACCTGATCCCTTCTAAGTCATGATCTTGTTTATATCAACAATCACTTGTTTTAGTTGTTACAAATTGTCTGCAGTGTTTATCCTCATGATGGCAACATTTTGAGAGAAATGTCTTCCTGCCTTTGCTTTTCTCATTCGCCTTTTTCCTTTGTGTGGTGCCTATGCTGTTTCTTCTTCTTATCGTCGAGTATGCTTTTTCGGATCCAGCTATCTGGAAGAACTTAATATAGGTCCGGGCACAGAGATTTTCCTTGTGGTGACGTAAGTTTGACCGTGAGCATTCTGAGCCTTTTC... | CAAACTTAATTTCCTTACTATTTCCTACCTGATCCCTTCTAAGTCATGATCTTGTTTATATCAACAATCACTTGTTTTAGTTGTTACAAATTGTCTGCAGTGTTTATCCTCATGATGGCAACATTTTGAGAGAAATGTCTTCCTGCCTTTGCTTTTCTCATTCGCCTTTTTCCTTTGTGTGGTGCCTATGCTGTTTCTTCTTCTTATCGTCGAGTATGCTTTTTCGGATCCAGCTATCTGGAAGAACTTAATATAGGTCCGGGCACAGAGATTTTCCTTGTGGTGACGTAAGTTTGACCGTGAGCATTCTGAGCCTTTTC... |
Task1_train_11027 | This variant impacts the gene DNAH11 (dynein axonemal heavy chain 11) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Primary ciliary dyskinesia 7 | CAAACTTAATTTCCTTACTATTTCCTACCTGATCCCTTCTAAGTCATGATCTTGTTTATATCAACAATCACTTGTTTTAGTTGTTACAAATTGTCTGCAGTGTTTATCCTCATGATGGCAACATTTTGAGAGAAATGTCTTCCTGCCTTTGCTTTTCTCATTCGCCTTTTTCCTTTGTGTGGTGCCTATGCTGTTTCTTCTTCTTATCGTCGAGTATGCTTTTTCGGATCCAGCTATCTGGAAGAACTTAATATAGGTCCGGGCACAGAGATTTTCCTTGTGGTGACGTAAGTTTGACCGTGAGCATTCTGAGCCTTTTC... | CAAACTTAATTTCCTTACTATTTCCTACCTGATCCCTTCTAAGTCATGATCTTGTTTATATCAACAATCACTTGTTTTAGTTGTTACAAATTGTCTGCAGTGTTTATCCTCATGATGGCAACATTTTGAGAGAAATGTCTTCCTGCCTTTGCTTTTCTCATTCGCCTTTTTCCTTTGTGTGGTGCCTATGCTGTTTCTTCTTCTTATCGTCGAGTATGCTTTTTCGGATCCAGCTATCTGGAAGAACTTAATATAGGTCCGGGCACAGAGATTTTCCTTGTGGTGACGTAAGTTTGACCGTGAGCATTCTGAGCCTTTTC... |
Task1_train_11028 | This variant affects the gene DNAH11 (dynein axonemal heavy chain 11) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Primary ciliary dyskinesia | CAAACTTAATTTCCTTACTATTTCCTACCTGATCCCTTCTAAGTCATGATCTTGTTTATATCAACAATCACTTGTTTTAGTTGTTACAAATTGTCTGCAGTGTTTATCCTCATGATGGCAACATTTTGAGAGAAATGTCTTCCTGCCTTTGCTTTTCTCATTCGCCTTTTTCCTTTGTGTGGTGCCTATGCTGTTTCTTCTTCTTATCGTCGAGTATGCTTTTTCGGATCCAGCTATCTGGAAGAACTTAATATAGGTCCGGGCACAGAGATTTTCCTTGTGGTGACGTAAGTTTGACCGTGAGCATTCTGAGCCTTTTC... | CAAACTTAATTTCCTTACTATTTCCTACCTGATCCCTTCTAAGTCATGATCTTGTTTATATCAACAATCACTTGTTTTAGTTGTTACAAATTGTCTGCAGTGTTTATCCTCATGATGGCAACATTTTGAGAGAAATGTCTTCCTGCCTTTGCTTTTCTCATTCGCCTTTTTCCTTTGTGTGGTGCCTATGCTGTTTCTTCTTCTTATCGTCGAGTATGCTTTTTCGGATCCAGCTATCTGGAAGAACTTAATATAGGTCCGGGCACAGAGATTTTCCTTGTGGTGACGTAAGTTTGACCGTGAGCATTCTGAGCCTTTTC... |
Task1_train_11029 | This variant lies on Chromosome 7 and affects the gene CDCA7L, DNAH11 (cell division cycle associated 7 like| dynein axonemal heavy chain 11). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Primary ciliary dyskinesia | GTCCTCAGACACCCTGTCCATACCTCCAAGTTGGCGCTTGTCAGTCCAAGTCATAGGGTGATGACCTTTGTATAGTCACCACATAGCATGAAGAGGCTCTAATAAAAGCTGTTGCATAAATGGAAATGAGTTTTCCACATTCCTCAGTGTATCTTGCTCTAATGTAAACGCTACAGTCATCAAGTCTCCAATGGGAAACAAACTAGCCCTTTAAAGGGACAGTGCCCTGCAAATTGTCAGGGAAGGATTTTACCAGCTAGCAGTGGTATACTTCTCCTCCACCACCACCCTGCCCTAACCGCCCACAACAGAACATACTG... | GTCCTCAGACACCCTGTCCATACCTCCAAGTTGGCGCTTGTCAGTCCAAGTCATAGGGTGATGACCTTTGTATAGTCACCACATAGCATGAAGAGGCTCTAATAAAAGCTGTTGCATAAATGGAAATGAGTTTTCCACATTCCTCAGTGTATCTTGCTCTAATGTAAACGCTACAGTCATCAAGTCTCCAATGGGAAACAAACTAGCCCTTTAAAGGGACAGTGCCCTGCAAATTGTCAGGGAAGGATTTTACCAGCTAGCAGTGGTATACTTCTCCTCCACCACCACCCTGCCCTAACCGCCCACAACAGAACATACTG... |
Task1_train_11030 | Here is a variant affecting HYCC1 (hyccin PI4KA lipid kinase complex subunit 1) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypomyelination and Congenital Cataract | CAATGTTACAGAACAGACCTGCACAGTATAAGCACACCAATAATGAAAAACTACAAGGAAAAAAAGACTTTCCAAGTAACAGCCATATGAAACCTGTCTTTAAAATTCAGTGTTCCAGCTGACACCTGAAGCAAAGCACAGTGACAAATCTAGATCTGTTTTTCTCTTGTATAAAATGACTCAGTATTCAAATAAATTGTCACACACAACTCATTAAACATTATTTATAAGTCTACTGAAATAATTTTCTTAAAAAATTAGTGGATTAAGATAAGAATTTTTATCCCCACAGTATACCGATTCTGTGCTGTCAGCATCTC... | CAATGTTACAGAACAGACCTGCACAGTATAAGCACACCAATAATGAAAAACTACAAGGAAAAAAAGACTTTCCAAGTAACAGCCATATGAAACCTGTCTTTAAAATTCAGTGTTCCAGCTGACACCTGAAGCAAAGCACAGTGACAAATCTAGATCTGTTTTTCTCTTGTATAAAATGACTCAGTATTCAAATAAATTGTCACACACAACTCATTAAACATTATTTATAAGTCTACTGAAATAATTTTCTTAAAAAATTAGTGGATTAAGATAAGAATTTTTATCCCCACAGTATACCGATTCTGTGCTGTCAGCATCTC... |
Task1_train_11031 | This variant affects the gene KLHL7 (kelch like family member 7) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | GGGGTTTTACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGAAGATGTATTTCTAATTAGTGCTCCAGGCTTGAAGGCTTTGTGGGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACA... | GGGGTTTTACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGAAGATGTATTTCTAATTAGTGCTCCAGGCTTGAAGGCTTTGTGGGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACA... |
Task1_train_11032 | This variant impacts the gene KLHL7 (kelch like family member 7) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinal dystrophy | ACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGAAGATGTATTTCTAATTAGTGCTCCAGGCTTGAAGGCTTTGTGGGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACACATATAAC... | ACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGAAGATGTATTTCTAATTAGTGCTCCAGGCTTGAAGGCTTTGTGGGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACACATATAAC... |
Task1_train_11033 | Here is a genetic alteration in KLHL7 (kelch like family member 7) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinitis pigmentosa 42 | CCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGAAGATGTATTTCTAATTAGTGCTCCAGGCTTGAAGGCTTTGTGGGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACACATATAACA... | CCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGAAGATGTATTTCTAATTAGTGCTCCAGGCTTGAAGGCTTTGTGGGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACACATATAACA... |
Task1_train_11034 | This mutation occurs in KLHL7 (kelch like family member 7) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinal dystrophy | CCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGAAGATGTATTTCTAATTAGTGCTCCAGGCTTGAAGGCTTTGTGGGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACACATATAACA... | CCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGAAGATGTATTTCTAATTAGTGCTCCAGGCTTGAAGGCTTTGTGGGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACACATATAACA... |
Task1_train_11035 | Gene KLHL7 (kelch like family member 7) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; PERCHING syndrome | TGTTAGCCAGGATGGTCTAGATCTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTTATTTATTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTATAGGTATGTGCCACCACACCCTGCTAATTGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACAGTTGACCTGCCCACCTC... | TGTTAGCCAGGATGGTCTAGATCTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTTATTTATTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTATAGGTATGTGCCACCACACCCTGCTAATTGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACAGTTGACCTGCCCACCTC... |
Task1_train_11036 | Gene KLHL7 (kelch like family member 7) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; PERCHING syndrome | TCAGCACCTAAGTATAAGAACTTGCATGGAATAGATACTCAGTAAAACTTAAGTGAATTAAATCATATTTTTAGGGTAACAGCTCCCTGACCCTGCCCACACACATATACCGTCCCATCTGTGACTCTACTGTTATTTGTCCATCTTCTTGCTAACATGAGAACTGCATATTCCTCTAGATTTCCCTGTAGATTTCCCTATTGCAGGGAGCAATAAATAGCACTGCCTTCACCTGCAAGCCCAGGTTGGAACTAGTTTCATCACTAGGGTAATGCCCAACAGTCATAGCCACTGAGCTGACAAGACTGACTTCCCATCTA... | TCAGCACCTAAGTATAAGAACTTGCATGGAATAGATACTCAGTAAAACTTAAGTGAATTAAATCATATTTTTAGGGTAACAGCTCCCTGACCCTGCCCACACACATATACCGTCCCATCTGTGACTCTACTGTTATTTGTCCATCTTCTTGCTAACATGAGAACTGCATATTCCTCTAGATTTCCCTGTAGATTTCCCTATTGCAGGGAGCAATAAATAGCACTGCCTTCACCTGCAAGCCCAGGTTGGAACTAGTTTCATCACTAGGGTAATGCCCAACAGTCATAGCCACTGAGCTGACAAGACTGACTTCCCATCTA... |
Task1_train_11037 | This gene mutation involves KLHL7 (kelch like family member 7) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cold-induced sweating syndrome 1 | TCAGCACCTAAGTATAAGAACTTGCATGGAATAGATACTCAGTAAAACTTAAGTGAATTAAATCATATTTTTAGGGTAACAGCTCCCTGACCCTGCCCACACACATATACCGTCCCATCTGTGACTCTACTGTTATTTGTCCATCTTCTTGCTAACATGAGAACTGCATATTCCTCTAGATTTCCCTGTAGATTTCCCTATTGCAGGGAGCAATAAATAGCACTGCCTTCACCTGCAAGCCCAGGTTGGAACTAGTTTCATCACTAGGGTAATGCCCAACAGTCATAGCCACTGAGCTGACAAGACTGACTTCCCATCTA... | TCAGCACCTAAGTATAAGAACTTGCATGGAATAGATACTCAGTAAAACTTAAGTGAATTAAATCATATTTTTAGGGTAACAGCTCCCTGACCCTGCCCACACACATATACCGTCCCATCTGTGACTCTACTGTTATTTGTCCATCTTCTTGCTAACATGAGAACTGCATATTCCTCTAGATTTCCCTGTAGATTTCCCTATTGCAGGGAGCAATAAATAGCACTGCCTTCACCTGCAAGCCCAGGTTGGAACTAGTTTCATCACTAGGGTAATGCCCAACAGTCATAGCCACTGAGCTGACAAGACTGACTTCCCATCTA... |
Task1_train_11038 | Given this variant in gene KLHL7 (kelch like family member 7) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; PERCHING syndrome | ACCTCGAGACAGCCTTGCTGCATGTGCTGCAGAAGGCAAAATTTATACATCTGGAGGTTCAGAAGTAGGTAAGGACTTCTTAAGTATTTTGGTTTGGGGCATATGCTTTAAAGCCAAGTATCTTGGCTTTCATATTTAAATAAACAGCTGGTATTATTTGTCCAGATACTTTCTTGGTAATTTAAATATGTGTTTGTCACATTTTAGAGCTCATCTCCCTGAAGGTTTATGTCGTTGCTTTACAAACCATTAAATTACAGAACTTTAGCTTCCTAGATTAATGGCCCATTTTTTTTATCATAATGAAGCATTAGTTGACA... | ACCTCGAGACAGCCTTGCTGCATGTGCTGCAGAAGGCAAAATTTATACATCTGGAGGTTCAGAAGTAGGTAAGGACTTCTTAAGTATTTTGGTTTGGGGCATATGCTTTAAAGCCAAGTATCTTGGCTTTCATATTTAAATAAACAGCTGGTATTATTTGTCCAGATACTTTCTTGGTAATTTAAATATGTGTTTGTCACATTTTAGAGCTCATCTCCCTGAAGGTTTATGTCGTTGCTTTACAAACCATTAAATTACAGAACTTTAGCTTCCTAGATTAATGGCCCATTTTTTTTATCATAATGAAGCATTAGTTGACA... |
Task1_train_11039 | A genetic alteration is present in KLHL7 (kelch like family member 7) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cold-induced sweating syndrome 1 | ACCTCGAGACAGCCTTGCTGCATGTGCTGCAGAAGGCAAAATTTATACATCTGGAGGTTCAGAAGTAGGTAAGGACTTCTTAAGTATTTTGGTTTGGGGCATATGCTTTAAAGCCAAGTATCTTGGCTTTCATATTTAAATAAACAGCTGGTATTATTTGTCCAGATACTTTCTTGGTAATTTAAATATGTGTTTGTCACATTTTAGAGCTCATCTCCCTGAAGGTTTATGTCGTTGCTTTACAAACCATTAAATTACAGAACTTTAGCTTCCTAGATTAATGGCCCATTTTTTTTATCATAATGAAGCATTAGTTGACA... | ACCTCGAGACAGCCTTGCTGCATGTGCTGCAGAAGGCAAAATTTATACATCTGGAGGTTCAGAAGTAGGTAAGGACTTCTTAAGTATTTTGGTTTGGGGCATATGCTTTAAAGCCAAGTATCTTGGCTTTCATATTTAAATAAACAGCTGGTATTATTTGTCCAGATACTTTCTTGGTAATTTAAATATGTGTTTGTCACATTTTAGAGCTCATCTCCCTGAAGGTTTATGTCGTTGCTTTACAAACCATTAAATTACAGAACTTTAGCTTCCTAGATTAATGGCCCATTTTTTTTATCATAATGAAGCATTAGTTGACA... |
Task1_train_11040 | A mutation on Chromosome 7 affecting KLHL7 (kelch like family member 7) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neurodevelopmental delay | GACAGCCTTGCTGCATGTGCTGCAGAAGGCAAAATTTATACATCTGGAGGTTCAGAAGTAGGTAAGGACTTCTTAAGTATTTTGGTTTGGGGCATATGCTTTAAAGCCAAGTATCTTGGCTTTCATATTTAAATAAACAGCTGGTATTATTTGTCCAGATACTTTCTTGGTAATTTAAATATGTGTTTGTCACATTTTAGAGCTCATCTCCCTGAAGGTTTATGTCGTTGCTTTACAAACCATTAAATTACAGAACTTTAGCTTCCTAGATTAATGGCCCATTTTTTTTATCATAATGAAGCATTAGTTGACATTATCTG... | GACAGCCTTGCTGCATGTGCTGCAGAAGGCAAAATTTATACATCTGGAGGTTCAGAAGTAGGTAAGGACTTCTTAAGTATTTTGGTTTGGGGCATATGCTTTAAAGCCAAGTATCTTGGCTTTCATATTTAAATAAACAGCTGGTATTATTTGTCCAGATACTTTCTTGGTAATTTAAATATGTGTTTGTCACATTTTAGAGCTCATCTCCCTGAAGGTTTATGTCGTTGCTTTACAAACCATTAAATTACAGAACTTTAGCTTCCTAGATTAATGGCCCATTTTTTTTATCATAATGAAGCATTAGTTGACATTATCTG... |
Task1_train_11041 | A variant has been detected on Chromosome 7 in GSDME (gasdermin E). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 5 | ATTATTTTGATTGCTCTTCCATGTACCAATTCTATTTTACAAATAGAGTCCAAGGAGTTGAGACCTTTGGAGTTGCTTAAGGTTACAAAATAGTGGAGGAAGCTTCCCAGGAGACAGGTCACATGTGGGACTGAAGTGCTGAAAACAGCTATTAGCCAGAAACTGGTGTGAGGACCTACGAAGACCCCATTTTCTATTCCAGCACTTTCCTCAGTTTTTAAGGAGAGAAGATTATATTAAGAGGAAAAAAAATGAACTCAGAAGGGCGGAGGATTAGCAAGAGCACAAATGGAAGGGCTGTATGCCAGCCTGGCCTCCAC... | ATTATTTTGATTGCTCTTCCATGTACCAATTCTATTTTACAAATAGAGTCCAAGGAGTTGAGACCTTTGGAGTTGCTTAAGGTTACAAAATAGTGGAGGAAGCTTCCCAGGAGACAGGTCACATGTGGGACTGAAGTGCTGAAAACAGCTATTAGCCAGAAACTGGTGTGAGGACCTACGAAGACCCCATTTTCTATTCCAGCACTTTCCTCAGTTTTTAAGGAGAGAAGATTATATTAAGAGGAAAAAAAATGAACTCAGAAGGGCGGAGGATTAGCAAGAGCACAAATGGAAGGGCTGTATGCCAGCCTGGCCTCCAC... |
Task1_train_11042 | The gene CYCS (cytochrome c, somatic) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Thrombocytopenia 4 | AAAAAACAAACTAAACGCCACAACTAGCCAAGATGGAAGGTTGAACACATTTCTGTATCTATCTTAATATGTTTCCTGTATCATTTCCAGGATGCCAAAAAAAAAAAAAATCAACTCTCTAGCCTTCACTTCAGGTCTTTCTCATTAGTCCAGAATTGTCCCCTTGTAAGCTACTTGCTACACTGTCCCTGAATACCACTAACTTTATACAGTCACCAAGTCCTCTGCTACAAGGCCTTTCAAAGTCTGAAATCTTTAAAGGATTTCCAGGATGCATTTTTAAATTCCCCACCAGAACTCAGACTAGGACTTCAAATATG... | AAAAAACAAACTAAACGCCACAACTAGCCAAGATGGAAGGTTGAACACATTTCTGTATCTATCTTAATATGTTTCCTGTATCATTTCCAGGATGCCAAAAAAAAAAAAAATCAACTCTCTAGCCTTCACTTCAGGTCTTTCTCATTAGTCCAGAATTGTCCCCTTGTAAGCTACTTGCTACACTGTCCCTGAATACCACTAACTTTATACAGTCACCAAGTCCTCTGCTACAAGGCCTTTCAAAGTCTGAAATCTTTAAAGGATTTCCAGGATGCATTTTTAAATTCCCCACCAGAACTCAGACTAGGACTTCAAATATG... |
Task1_train_11043 | This variant lies on Chromosome 7 and affects the gene HNRNPA2B1 (heterogeneous nuclear ribonucleoprotein A2/B1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | TGTTAAACTCAATTTATAGCTATGTTAAACTACGTAAGAACCACTATACTGAAAGACCATTTAAGAGTATTAGTTTATCTTTTAGGGAGGAAAATTAAGAAAGGAAAAGTAAATAAGATCTTACCTAAAGAAGTTTAACTGAAGCTTAGAACTATTTTGCTCTACACCCTCAGCTTTCGTTGGCATCCTTATAAACTACTGTAGTTAAAGTTTTGTAGAAACAGCACAGTTTTTTAAGACTGGCTGAACTTAGTAGCCGTCAAGAGTTCTCTTGTACTAGACCTGTGTCCCTGAAGAGTACCTCGCTGGGGTTATTTCCT... | TGTTAAACTCAATTTATAGCTATGTTAAACTACGTAAGAACCACTATACTGAAAGACCATTTAAGAGTATTAGTTTATCTTTTAGGGAGGAAAATTAAGAAAGGAAAAGTAAATAAGATCTTACCTAAAGAAGTTTAACTGAAGCTTAGAACTATTTTGCTCTACACCCTCAGCTTTCGTTGGCATCCTTATAAACTACTGTAGTTAAAGTTTTGTAGAAACAGCACAGTTTTTTAAGACTGGCTGAACTTAGTAGCCGTCAAGAGTTCTCTTGTACTAGACCTGTGTCCCTGAAGAGTACCTCGCTGGGGTTATTTCCT... |
Task1_train_11044 | Here is a variant affecting SNX10 (sorting nexin 10) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | CAATGGATAAGCCTTGGCTTGGTGGACAGCAAAAACAAGCAAATAGATTTATTAGAGGAACTTAATCAGTTAGTGATCTCAGTATCCTCTAATCTTGAAGAGACTTCCACCTGTCATACAATTAAAAGTGGATGGCAGAGCTAGGGAGTTCTGGTTGGCTTCTCTTAGTTGTTAACCCATAGAGCTTTGGAGGTAGAGAAGCTGGTCTTTAACTTGTTTAAATTAACCTCAAGGGAGATGATGTCACACAACTCTGGGATCTTAACATTTACTTGGAATTTTAAATTAGTAGACCCTAGAGCTGGGTAGCCATCATAAAT... | CAATGGATAAGCCTTGGCTTGGTGGACAGCAAAAACAAGCAAATAGATTTATTAGAGGAACTTAATCAGTTAGTGATCTCAGTATCCTCTAATCTTGAAGAGACTTCCACCTGTCATACAATTAAAAGTGGATGGCAGAGCTAGGGAGTTCTGGTTGGCTTCTCTTAGTTGTTAACCCATAGAGCTTTGGAGGTAGAGAAGCTGGTCTTTAACTTGTTTAAATTAACCTCAAGGGAGATGATGTCACACAACTCTGGGATCTTAACATTTACTTGGAATTTTAAATTAGTAGACCCTAGAGCTGGGTAGCCATCATAAAT... |
Task1_train_11045 | Here is a mutation in HOXA2 (homeobox A2) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Bilateral microtia-deafness-cleft palate syndrome | CTATGAAGAAACATCGCGTTGTCATTGGAACTTCCAAGCCTTTGCTGTTAAGAGCCAGGTTCTTAAATCAACCCGCCCCACACACATGTTGCTTACATGCTGCGTTTTCTCACGGTAAGTAAGTAGGCATCAGAAGAGAGCTCAGAAAGGGAAAAATAAACATGGGGAGACCTAACAAGGGAGGGGGGAAAAGCAACAACCCAGTGACACACCCTAGATCACATTTTATTGATATTTCATTTAAAGTGCTTTTCTCTCTCTCTAGAACCTGCGTTAATTTATAACCTAGGGTGTAGAAACACACCATTTTAAATCTCAAC... | CTATGAAGAAACATCGCGTTGTCATTGGAACTTCCAAGCCTTTGCTGTTAAGAGCCAGGTTCTTAAATCAACCCGCCCCACACACATGTTGCTTACATGCTGCGTTTTCTCACGGTAAGTAAGTAGGCATCAGAAGAGAGCTCAGAAAGGGAAAAATAAACATGGGGAGACCTAACAAGGGAGGGGGGAAAAGCAACAACCCAGTGACACACCCTAGATCACATTTTATTGATATTTCATTTAAAGTGCTTTTCTCTCTCTCTAGAACCTGCGTTAATTTATAACCTAGGGTGTAGAAACACACCATTTTAAATCTCAAC... |
Task1_train_11046 | The variant affects gene HOXA13 (homeobox A13), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hand-foot-genital syndrome | TGTGTACACATATTATATATATTTACATATATACAGGGACATGTATAATTTACATATATTCAAATTTGCTCCAGCTGGAGCCAAATAATTGAGTACTGAATCTCTAAAGTCAAGGAGGTAAGAGCTCTTGATTCCCTTGGTTGAAGAATTACAAGGAGGCTTGTCAACGCGAGGTGGCGCCCTTGATCTACTAATCCAGCTAAGGCCAATTCATGAGCTGTCAAAAGTCAAGGTCACAAATTGTCTTTTTTTTCGTCAAGGTCAAGGTTTAAGGCCTTTCGTAGTCCTGTCATTTCAACAAATATCAAAACCTGCCCTCT... | TGTGTACACATATTATATATATTTACATATATACAGGGACATGTATAATTTACATATATTCAAATTTGCTCCAGCTGGAGCCAAATAATTGAGTACTGAATCTCTAAAGTCAAGGAGGTAAGAGCTCTTGATTCCCTTGGTTGAAGAATTACAAGGAGGCTTGTCAACGCGAGGTGGCGCCCTTGATCTACTAATCCAGCTAAGGCCAATTCATGAGCTGTCAAAAGTCAAGGTCACAAATTGTCTTTTTTTTCGTCAAGGTCAAGGTTTAAGGCCTTTCGTAGTCCTGTCATTTCAACAAATATCAAAACCTGCCCTCT... |
Task1_train_11047 | Located on Chromosome 7, this mutation impacts GARS1 (glycyl-tRNA synthetase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Inborn genetic diseases | TATGGAATTAGTATAAGTTGTTGGAAGTTAATAAAATAATTCAGAAATATTAGCAAGGAAAAAATTCCAACTGTAAAGAGAAAGGCAAAGGAAGATGAGCCAGCAGTGACTGAGAAGAATGGTCAGAGAAGTGGGAGGAAAACTGAATAATGTTTTTATTTTTTTTTGTAAGCGAGAGGAGAGAGATTTAAGAAGGTGGTCAATTTATTGGTTCTTCTGTGTTCTCAGTACAAATCTTGCTCTTTCCTACTTTTTAATCAATGCTTTTGTCTCCTCCTTTTTCACCCCTCTATACCCAAAGGAAAAAATTCACCATGTGA... | TATGGAATTAGTATAAGTTGTTGGAAGTTAATAAAATAATTCAGAAATATTAGCAAGGAAAAAATTCCAACTGTAAAGAGAAAGGCAAAGGAAGATGAGCCAGCAGTGACTGAGAAGAATGGTCAGAGAAGTGGGAGGAAAACTGAATAATGTTTTTATTTTTTTTTGTAAGCGAGAGGAGAGAGATTTAAGAAGGTGGTCAATTTATTGGTTCTTCTGTGTTCTCAGTACAAATCTTGCTCTTTCCTACTTTTTAATCAATGCTTTTGTCTCCTCCTTTTTCACCCCTCTATACCCAAAGGAAAAAATTCACCATGTGA... |
Task1_train_11048 | This alteration occurs within gene GARS1 (glycyl-tRNA synthetase 1) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ACTCAATACGCTATATGAATTTCCATGGAAAGGATTGTGCTCTTCTTTACGACTTCTCTTATGCCTGAAAATAATGATTTTTGTTTGTTTGTTTGTTTTAAGGAAAAGGTCTGTTTATTTGATACCTGCTCCCAGACCTTTCAAACAATAGATCTCCCATCACCAAACTTAAGTTGTTTTGGGGTTTTAAAGTAACCATTTTGCTATAGCAATCCACTGACAATTCAAATATTGCTTTATATTGCTTATCAGTATCTACATCAAAGTAAACTTAGTCTTGTTTTTTTTTTGAGATGGAGTCTCGCCCTGTTGCCCAGGCT... | ACTCAATACGCTATATGAATTTCCATGGAAAGGATTGTGCTCTTCTTTACGACTTCTCTTATGCCTGAAAATAATGATTTTTGTTTGTTTGTTTGTTTTAAGGAAAAGGTCTGTTTATTTGATACCTGCTCCCAGACCTTTCAAACAATAGATCTCCCATCACCAAACTTAAGTTGTTTTGGGGTTTTAAAGTAACCATTTTGCTATAGCAATCCACTGACAATTCAAATATTGCTTTATATTGCTTATCAGTATCTACATCAAAGTAAACTTAGTCTTGTTTTTTTTTTGAGATGGAGTCTCGCCCTGTTGCCCAGGCT... |
Task1_train_11049 | Given this context: Chromosome 7, gene GARS1 (glycyl-tRNA synthetase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Charcot-Marie-Tooth disease type 2 | CAGAGTAACAAGGTAAAGTATGTGTTTTCCTCTCATATTCTATAGGTGTTAGTGGTCTGTATGACTTTGGGCCAGTTGGCTGTGCTTTGAAGAACAATATTATTCAGACCTGGAGGCAGCACTTTATCCAAGAGGAACAGATCCTGGAGATCGATTGCACCATGCTCACCCCTGAGCCAGTTTTAAAGTGAGATCTTACTTTGGAGTGGGGGTATCCTACTTTAAATAAAATAACTTATTAAATTATTTAATATACTTATCTAAATAACTTCCTGATTATAAAGAACTACTCATTTCATGTAGAAAATCTGAAAAATATG... | CAGAGTAACAAGGTAAAGTATGTGTTTTCCTCTCATATTCTATAGGTGTTAGTGGTCTGTATGACTTTGGGCCAGTTGGCTGTGCTTTGAAGAACAATATTATTCAGACCTGGAGGCAGCACTTTATCCAAGAGGAACAGATCCTGGAGATCGATTGCACCATGCTCACCCCTGAGCCAGTTTTAAAGTGAGATCTTACTTTGGAGTGGGGGTATCCTACTTTAAATAAAATAACTTATTAAATTATTTAATATACTTATCTAAATAACTTCCTGATTATAAAGAACTACTCATTTCATGTAGAAAATCTGAAAAATATG... |
Task1_train_11050 | Gene GARS1 (glycyl-tRNA synthetase 1) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 2D | TAAATGACGAGTTGATGGGTGCAGCAAACCAACATGGCACATGTATACTTATGTATCAAACCTGCATGTTGTGCACATGTACACTAGAACTTAAAGTATAATAAAAAAGTTAAAATTTGTTTTATAATCATATAAAGCATTTTTTATACCTCTAAAGGCAAATCTAAAAAACAAGGTATATTTAGTCTACTATCTTTCTCTTCCCTTTACCTTCCGTCCTTCTGCTTCCCTGCTTCCTGAGCAGTTTTTAACTTAAAACAACTTCCTTTTTTAAAAAAATAGAATATAAACAAAGACATATAGATATTTGTATGCCCTCC... | TAAATGACGAGTTGATGGGTGCAGCAAACCAACATGGCACATGTATACTTATGTATCAAACCTGCATGTTGTGCACATGTACACTAGAACTTAAAGTATAATAAAAAAGTTAAAATTTGTTTTATAATCATATAAAGCATTTTTTATACCTCTAAAGGCAAATCTAAAAAACAAGGTATATTTAGTCTACTATCTTTCTCTTCCCTTTACCTTCCGTCCTTCTGCTTCCCTGCTTCCTGAGCAGTTTTTAACTTAAAACAACTTCCTTTTTTAAAAAAATAGAATATAAACAAAGACATATAGATATTTGTATGCCCTCC... |
Task1_train_11051 | This mutation occurs in GARS1 (glycyl-tRNA synthetase 1) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 2 | CACTAGAACTTAAAGTATAATAAAAAAGTTAAAATTTGTTTTATAATCATATAAAGCATTTTTTATACCTCTAAAGGCAAATCTAAAAAACAAGGTATATTTAGTCTACTATCTTTCTCTTCCCTTTACCTTCCGTCCTTCTGCTTCCCTGCTTCCTGAGCAGTTTTTAACTTAAAACAACTTCCTTTTTTAAAAAAATAGAATATAAACAAAGACATATAGATATTTGTATGCCCTCCTTTCTAGATAAATGGTTGCATTCCATACACACTTTTCTCCATTGTGGTTTTCTTCACATAACAAAATATTTCAGAGATTGG... | CACTAGAACTTAAAGTATAATAAAAAAGTTAAAATTTGTTTTATAATCATATAAAGCATTTTTTATACCTCTAAAGGCAAATCTAAAAAACAAGGTATATTTAGTCTACTATCTTTCTCTTCCCTTTACCTTCCGTCCTTCTGCTTCCCTGCTTCCTGAGCAGTTTTTAACTTAAAACAACTTCCTTTTTTAAAAAAATAGAATATAAACAAAGACATATAGATATTTGTATGCCCTCCTTTCTAGATAAATGGTTGCATTCCATACACACTTTTCTCCATTGTGGTTTTCTTCACATAACAAAATATTTCAGAGATTGG... |
Task1_train_11052 | Assess the clinical impact of this variant on gene GARS1 (glycyl-tRNA synthetase 1), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not specified | GAACTTAAAGTATAATAAAAAAGTTAAAATTTGTTTTATAATCATATAAAGCATTTTTTATACCTCTAAAGGCAAATCTAAAAAACAAGGTATATTTAGTCTACTATCTTTCTCTTCCCTTTACCTTCCGTCCTTCTGCTTCCCTGCTTCCTGAGCAGTTTTTAACTTAAAACAACTTCCTTTTTTAAAAAAATAGAATATAAACAAAGACATATAGATATTTGTATGCCCTCCTTTCTAGATAAATGGTTGCATTCCATACACACTTTTCTCCATTGTGGTTTTCTTCACATAACAAAATATTTCAGAGATTGGTCCCT... | GAACTTAAAGTATAATAAAAAAGTTAAAATTTGTTTTATAATCATATAAAGCATTTTTTATACCTCTAAAGGCAAATCTAAAAAACAAGGTATATTTAGTCTACTATCTTTCTCTTCCCTTTACCTTCCGTCCTTCTGCTTCCCTGCTTCCTGAGCAGTTTTTAACTTAAAACAACTTCCTTTTTTAAAAAAATAGAATATAAACAAAGACATATAGATATTTGTATGCCCTCCTTTCTAGATAAATGGTTGCATTCCATACACACTTTTCTCCATTGTGGTTTTCTTCACATAACAAAATATTTCAGAGATTGGTCCCT... |
Task1_train_11053 | The gene GARS1 (glycyl-tRNA synthetase 1) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease type 2D | GAACTTAAAGTATAATAAAAAAGTTAAAATTTGTTTTATAATCATATAAAGCATTTTTTATACCTCTAAAGGCAAATCTAAAAAACAAGGTATATTTAGTCTACTATCTTTCTCTTCCCTTTACCTTCCGTCCTTCTGCTTCCCTGCTTCCTGAGCAGTTTTTAACTTAAAACAACTTCCTTTTTTAAAAAAATAGAATATAAACAAAGACATATAGATATTTGTATGCCCTCCTTTCTAGATAAATGGTTGCATTCCATACACACTTTTCTCCATTGTGGTTTTCTTCACATAACAAAATATTTCAGAGATTGGTCCCT... | GAACTTAAAGTATAATAAAAAAGTTAAAATTTGTTTTATAATCATATAAAGCATTTTTTATACCTCTAAAGGCAAATCTAAAAAACAAGGTATATTTAGTCTACTATCTTTCTCTTCCCTTTACCTTCCGTCCTTCTGCTTCCCTGCTTCCTGAGCAGTTTTTAACTTAAAACAACTTCCTTTTTTAAAAAAATAGAATATAAACAAAGACATATAGATATTTGTATGCCCTCCTTTCTAGATAAATGGTTGCATTCCATACACACTTTTCTCCATTGTGGTTTTCTTCACATAACAAAATATTTCAGAGATTGGTCCCT... |
Task1_train_11054 | A mutation found in GARS1 (glycyl-tRNA synthetase 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GAACTTAAAGTATAATAAAAAAGTTAAAATTTGTTTTATAATCATATAAAGCATTTTTTATACCTCTAAAGGCAAATCTAAAAAACAAGGTATATTTAGTCTACTATCTTTCTCTTCCCTTTACCTTCCGTCCTTCTGCTTCCCTGCTTCCTGAGCAGTTTTTAACTTAAAACAACTTCCTTTTTTAAAAAAATAGAATATAAACAAAGACATATAGATATTTGTATGCCCTCCTTTCTAGATAAATGGTTGCATTCCATACACACTTTTCTCCATTGTGGTTTTCTTCACATAACAAAATATTTCAGAGATTGGTCCCT... | GAACTTAAAGTATAATAAAAAAGTTAAAATTTGTTTTATAATCATATAAAGCATTTTTTATACCTCTAAAGGCAAATCTAAAAAACAAGGTATATTTAGTCTACTATCTTTCTCTTCCCTTTACCTTCCGTCCTTCTGCTTCCCTGCTTCCTGAGCAGTTTTTAACTTAAAACAACTTCCTTTTTTAAAAAAATAGAATATAAACAAAGACATATAGATATTTGTATGCCCTCCTTTCTAGATAAATGGTTGCATTCCATACACACTTTTCTCCATTGTGGTTTTCTTCACATAACAAAATATTTCAGAGATTGGTCCCT... |
Task1_train_11055 | The gene GARS1 (glycyl-tRNA synthetase 1) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Charcot-Marie-Tooth disease type 2D | GAAACCATTTAGTTTAGCATGCTACTGTCCAACGGAACTTTCTGCAGTGATGGAAATGTTCTGTAATGTGTGTTGTCCAGTATGATTAGCTACCAGCCACATTTGGCTCTTGAGCACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGA... | GAAACCATTTAGTTTAGCATGCTACTGTCCAACGGAACTTTCTGCAGTGATGGAAATGTTCTGTAATGTGTGTTGTCCAGTATGATTAGCTACCAGCCACATTTGGCTCTTGAGCACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGA... |
Task1_train_11056 | Consider a variant on Chromosome 7 in gene GARS1 (glycyl-tRNA synthetase 1). Determine its clinical classification and disease relevance. | Pathogenic; Charcot-Marie-Tooth disease type 2 | TAGCTACCAGCCACATTTGGCTCTTGAGCACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTT... | TAGCTACCAGCCACATTTGGCTCTTGAGCACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTT... |
Task1_train_11057 | Here’s a variant in GARS1 (glycyl-tRNA synthetase 1) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Charcot-Marie-Tooth disease type 2D | TAGCTACCAGCCACATTTGGCTCTTGAGCACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTT... | TAGCTACCAGCCACATTTGGCTCTTGAGCACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTT... |
Task1_train_11058 | This sequence change occurs on Chromosome 7, altering GARS1 (glycyl-tRNA synthetase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Neuronopathy, distal hereditary motor, type 5A | TAGCTACCAGCCACATTTGGCTCTTGAGCACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTT... | TAGCTACCAGCCACATTTGGCTCTTGAGCACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTT... |
Task1_train_11059 | Given a variant located on Chromosome 7 and affecting GARS1 (glycyl-tRNA synthetase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease type 2 | TCTTGAGCACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTTTTTCCTACATGAGCTAGATAG... | TCTTGAGCACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTTTTTCCTACATGAGCTAGATAG... |
Task1_train_11060 | A variant was discovered on Chromosome 7, affecting GARS1 (glycyl-tRNA synthetase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease type 2 | CTTGAGCACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTTTTTCCTACATGAGCTAGATAGA... | CTTGAGCACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTTTTTCCTACATGAGCTAGATAGA... |
Task1_train_11061 | Consider a variant on Chromosome 7 in gene GARS1 (glycyl-tRNA synthetase 1). Determine its clinical classification and disease relevance. | Pathogenic; Charcot-Marie-Tooth disease type 2D | CACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTTTTTCCTACATGAGCTAGATAGATCGTGT... | CACTCATAATGGGTCCAGTTCTTCTGAGGCACTGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTTTTTCCTACATGAGCTAGATAGATCGTGT... |
Task1_train_11062 | A mutation in GARS1 (glycyl-tRNA synthetase 1), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not specified | AAAAAATTTACCGTTGCAGTTAATGCCACACCAATTCTCTTTCCATCCAGAGAAGTAACCACTATCCCAATGTTGTTATTCTCAGGCACGTTTTTGTAATTTTACCTTTCAGTACATAAATGTTAGTTGACATCTGCAGTAAATTATAACCACCAAACTATATGGTTAAGAACATAAGTATACTTAACCAGTCGACATGTATAGGGAATGTCAGATTGCCAGGTTACATGTTTTTAGGCTTTGTTCTTTAATTCCTTTTGTTGTTGTTTTGTGTTGGAGTTTCTGAGCTCATATGAGTTTTATATTTGCTTGCTTTATTA... | AAAAAATTTACCGTTGCAGTTAATGCCACACCAATTCTCTTTCCATCCAGAGAAGTAACCACTATCCCAATGTTGTTATTCTCAGGCACGTTTTTGTAATTTTACCTTTCAGTACATAAATGTTAGTTGACATCTGCAGTAAATTATAACCACCAAACTATATGGTTAAGAACATAAGTATACTTAACCAGTCGACATGTATAGGGAATGTCAGATTGCCAGGTTACATGTTTTTAGGCTTTGTTCTTTAATTCCTTTTGTTGTTGTTTTGTGTTGGAGTTTCTGAGCTCATATGAGTTTTATATTTGCTTGCTTTATTA... |
Task1_train_11063 | Here is a genetic alteration in GARS1 (glycyl-tRNA synthetase 1) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Charcot-Marie-Tooth disease type 2 | AAAAAATTTACCGTTGCAGTTAATGCCACACCAATTCTCTTTCCATCCAGAGAAGTAACCACTATCCCAATGTTGTTATTCTCAGGCACGTTTTTGTAATTTTACCTTTCAGTACATAAATGTTAGTTGACATCTGCAGTAAATTATAACCACCAAACTATATGGTTAAGAACATAAGTATACTTAACCAGTCGACATGTATAGGGAATGTCAGATTGCCAGGTTACATGTTTTTAGGCTTTGTTCTTTAATTCCTTTTGTTGTTGTTTTGTGTTGGAGTTTCTGAGCTCATATGAGTTTTATATTTGCTTGCTTTATTA... | AAAAAATTTACCGTTGCAGTTAATGCCACACCAATTCTCTTTCCATCCAGAGAAGTAACCACTATCCCAATGTTGTTATTCTCAGGCACGTTTTTGTAATTTTACCTTTCAGTACATAAATGTTAGTTGACATCTGCAGTAAATTATAACCACCAAACTATATGGTTAAGAACATAAGTATACTTAACCAGTCGACATGTATAGGGAATGTCAGATTGCCAGGTTACATGTTTTTAGGCTTTGTTCTTTAATTCCTTTTGTTGTTGTTTTGTGTTGGAGTTTCTGAGCTCATATGAGTTTTATATTTGCTTGCTTTATTA... |
Task1_train_11064 | Gene GARS1 (glycyl-tRNA synthetase 1) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 2 | CATGTTGCCCAGGCTGATCTTGAACTCCTAGGCTCAAGCAGTCCACCTGCCTTCGCGTCCCAAAGTGCTGAGATTACAGGCATGAGTGACCACGCCTGGCCCTCATTCCCTGTCTTCTTTGGCAAAATAACTTGTTAAAAAGTCATTTAGGGGCCGGGCGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACGAGGTCAGGAGTTCAAGATCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGAGACACGCACGTGTAATCCCAGCT... | CATGTTGCCCAGGCTGATCTTGAACTCCTAGGCTCAAGCAGTCCACCTGCCTTCGCGTCCCAAAGTGCTGAGATTACAGGCATGAGTGACCACGCCTGGCCCTCATTCCCTGTCTTCTTTGGCAAAATAACTTGTTAAAAAGTCATTTAGGGGCCGGGCGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACGAGGTCAGGAGTTCAAGATCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGAGACACGCACGTGTAATCCCAGCT... |
Task1_train_11065 | This variant lies on Chromosome 7 and affects the gene GARS1 (glycyl-tRNA synthetase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Spinal muscular atrophy, infantile, James type | ACCTTCTGTGATGTGAGCAGCCATATTGGTGGAATACAGGCCTTACTTAGAGTGGGATATTCATTGCTTGGCAATAAAGGTTAATTGAACTTTGGGTGAGAGGCTAAACTGGAACCTGTGTCATTCATTATTTTTATGGGACAAATTTATTCTGTGTTTTTGCCTTCAAGTGAACCTTTTGTACAAGTATTAAGAACTGCCTTCAGTTCCCATTTCCAACCTAAAGTGGTTGATTGGTTTGCCTTCCACAGAATATTTTTATTTTCGCCTTTTTTTTTTTTTTTTTTTGGTCTCGCTTTGTTGCTCAGCTGGAGTGCAGT... | ACCTTCTGTGATGTGAGCAGCCATATTGGTGGAATACAGGCCTTACTTAGAGTGGGATATTCATTGCTTGGCAATAAAGGTTAATTGAACTTTGGGTGAGAGGCTAAACTGGAACCTGTGTCATTCATTATTTTTATGGGACAAATTTATTCTGTGTTTTTGCCTTCAAGTGAACCTTTTGTACAAGTATTAAGAACTGCCTTCAGTTCCCATTTCCAACCTAAAGTGGTTGATTGGTTTGCCTTCCACAGAATATTTTTATTTTCGCCTTTTTTTTTTTTTTTTTTTGGTCTCGCTTTGTTGCTCAGCTGGAGTGCAGT... |
Task1_train_11066 | The gene AQP1 (aquaporin 1 (Colton blood group)) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Colton-null phenotype | GAATGCTGAGCCAGGGCTCCTCAGAGGAAAGGATGTAGAGGAGGGCCCAGGAAGTAGCCCAGTGGGGCCAGTTTCCTCTCCTGGACAGCTAAGAAAGTACTTATGACCTTCGGCCACCTGGGCTGTCTGAGCAGGCAGGGCCTGCTGGCCACCACCGTCCTGTACAGGCACTTAGGGGAATGAATCTTCCCCACCTGCAGCCCCAGCAAACACACACCAGGCTGGTCCCTGGCAATTCACCCCAAGAGCCAGGCCACAGCTGGGCAGAGGGGTGGCCAGTAACAGCTGGTGTCATTCTCTGCAGGATAGCCCCTGGACAA... | GAATGCTGAGCCAGGGCTCCTCAGAGGAAAGGATGTAGAGGAGGGCCCAGGAAGTAGCCCAGTGGGGCCAGTTTCCTCTCCTGGACAGCTAAGAAAGTACTTATGACCTTCGGCCACCTGGGCTGTCTGAGCAGGCAGGGCCTGCTGGCCACCACCGTCCTGTACAGGCACTTAGGGGAATGAATCTTCCCCACCTGCAGCCCCAGCAAACACACACCAGGCTGGTCCCTGGCAATTCACCCCAAGAGCCAGGCCACAGCTGGGCAGAGGGGTGGCCAGTAACAGCTGGTGTCATTCTCTGCAGGATAGCCCCTGGACAA... |
Task1_train_11067 | This variant affects gene GHRHR (growth hormone releasing hormone receptor) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Isolated growth hormone deficiency, type 4 | GCCCGGATTTCTTCTCTCACTTCAGCTCAGAGTCAGGTGAGGGGTGCTGGGTGTGGCGGTGGGAAAGGGAGGTGCTTTCATCTGGAAGTGGCAGAATCATCACTGGATTTGGGGGCAGGCTAACCTGGGTTTGTATACCAACTTCCCCTCTTCTGGGGTGACCTCGGGCCAGTCAGTCTATCCTGATCTCTGCTTCCTGAGCTGTGAACTGGGGAGAACAAGAGCATTAACTGTGCAGGAAAGTATTAGAGTGCAGAACCTGTAAGTGCTGGACCTGGATGCCCTCCAGGTGTTAGCAGAAGCCTGGCTGCAAGGGTGGA... | GCCCGGATTTCTTCTCTCACTTCAGCTCAGAGTCAGGTGAGGGGTGCTGGGTGTGGCGGTGGGAAAGGGAGGTGCTTTCATCTGGAAGTGGCAGAATCATCACTGGATTTGGGGGCAGGCTAACCTGGGTTTGTATACCAACTTCCCCTCTTCTGGGGTGACCTCGGGCCAGTCAGTCTATCCTGATCTCTGCTTCCTGAGCTGTGAACTGGGGAGAACAAGAGCATTAACTGTGCAGGAAAGTATTAGAGTGCAGAACCTGTAAGTGCTGGACCTGGATGCCCTCCAGGTGTTAGCAGAAGCCTGGCTGCAAGGGTGGA... |
Task1_train_11068 | A variant on Chromosome 7 in gene GHRHR (growth hormone releasing hormone receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Isolated growth hormone deficiency, type 4 | TCACCACTTTTATCCTCAAGGCGGGAGCTGTGTTCCTGAAGGATGCTGCCCTTTTCCACAGCGACGACACTGACCACTGCAGCTTCTCCACTGTAATGGCCATGGGTGAAGGGGCTGGGCAGGTGGGGGAGAGAGGAGGTAGGATTACAGACCCAGATGTGCCTGCGTCAGGCTTCCCTGCCCTGTGGGCTGACCCTGGGGCTCCCGCATGGCCAATTACAGAACAGGAAAATGCTCCTTTCCCATGTCACCCCCTAAGTCCTCACGCCTTTCCTGGACTGTGGTGTCGATCCATGTCATTTCCCATATTGCATGCTCTA... | TCACCACTTTTATCCTCAAGGCGGGAGCTGTGTTCCTGAAGGATGCTGCCCTTTTCCACAGCGACGACACTGACCACTGCAGCTTCTCCACTGTAATGGCCATGGGTGAAGGGGCTGGGCAGGTGGGGGAGAGAGGAGGTAGGATTACAGACCCAGATGTGCCTGCGTCAGGCTTCCCTGCCCTGTGGGCTGACCCTGGGGCTCCCGCATGGCCAATTACAGAACAGGAAAATGCTCCTTTCCCATGTCACCCCCTAAGTCCTCACGCCTTTCCTGGACTGTGGTGTCGATCCATGTCATTTCCCATATTGCATGCTCTA... |
Task1_train_11069 | A change on Chromosome 7 affects gene GHRHR (growth hormone releasing hormone receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Isolated growth hormone deficiency, type 4 | GCGACGACACTGACCACTGCAGCTTCTCCACTGTAATGGCCATGGGTGAAGGGGCTGGGCAGGTGGGGGAGAGAGGAGGTAGGATTACAGACCCAGATGTGCCTGCGTCAGGCTTCCCTGCCCTGTGGGCTGACCCTGGGGCTCCCGCATGGCCAATTACAGAACAGGAAAATGCTCCTTTCCCATGTCACCCCCTAAGTCCTCACGCCTTTCCTGGACTGTGGTGTCGATCCATGTCATTTCCCATATTGCATGCTCTACTCCGCGTTCTGTAGTCCAACCTAGACCACGTTTCACTATGCACAGCCTTTTCCTTTCCT... | GCGACGACACTGACCACTGCAGCTTCTCCACTGTAATGGCCATGGGTGAAGGGGCTGGGCAGGTGGGGGAGAGAGGAGGTAGGATTACAGACCCAGATGTGCCTGCGTCAGGCTTCCCTGCCCTGTGGGCTGACCCTGGGGCTCCCGCATGGCCAATTACAGAACAGGAAAATGCTCCTTTCCCATGTCACCCCCTAAGTCCTCACGCCTTTCCTGGACTGTGGTGTCGATCCATGTCATTTCCCATATTGCATGCTCTACTCCGCGTTCTGTAGTCCAACCTAGACCACGTTTCACTATGCACAGCCTTTTCCTTTCCT... |
Task1_train_11070 | A genetic alteration is present in GHRHR (growth hormone releasing hormone receptor) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Isolated growth hormone deficiency, type 4 | CAGACTCCCTCGCTTGTGTCTTCCCTGTACTCCTGTAGGGCTGCCCGTGCTCTTCACTGGCACGTGGGTGAGCTGCAAACTGGCCTTCGAGGACATCGCGTGAGTCGGAGCGGCCACCTTGTCATACCCGCTGGTCCTACATGGGGTGTGGAGTGGACAGTCAGGCCATGGGCTGTTCTCCAGGCTGGGAAGAGGAGGAGAAGGGACTGCCCGGCTAGGATGGGGGGTGGGAGAACAGTCTGTGAGTAGCACAGAAGGGGCATGAGCCAGGCAGGAGAGTGGAGCTCAGATTCCCAGGGCTGTGGGGCTGGGGGAAGGTG... | CAGACTCCCTCGCTTGTGTCTTCCCTGTACTCCTGTAGGGCTGCCCGTGCTCTTCACTGGCACGTGGGTGAGCTGCAAACTGGCCTTCGAGGACATCGCGTGAGTCGGAGCGGCCACCTTGTCATACCCGCTGGTCCTACATGGGGTGTGGAGTGGACAGTCAGGCCATGGGCTGTTCTCCAGGCTGGGAAGAGGAGGAGAAGGGACTGCCCGGCTAGGATGGGGGGTGGGAGAACAGTCTGTGAGTAGCACAGAAGGGGCATGAGCCAGGCAGGAGAGTGGAGCTCAGATTCCCAGGGCTGTGGGGCTGGGGGAAGGTG... |
Task1_train_11071 | Located on Chromosome 7, this mutation impacts GHRHR (growth hormone releasing hormone receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Isolated growth hormone deficiency, type 4 | CTTCGAGGACATCGCGTGAGTCGGAGCGGCCACCTTGTCATACCCGCTGGTCCTACATGGGGTGTGGAGTGGACAGTCAGGCCATGGGCTGTTCTCCAGGCTGGGAAGAGGAGGAGAAGGGACTGCCCGGCTAGGATGGGGGGTGGGAGAACAGTCTGTGAGTAGCACAGAAGGGGCATGAGCCAGGCAGGAGAGTGGAGCTCAGATTCCCAGGGCTGTGGGGCTGGGGGAAGGTGGGGTGAGGGAGCTGCCAGGGGGCCAGCAAGGAGGCATTGAACAGAGTTCAGAAACGTTTGTCCATCTAGGTGGATAGAAAGGGT... | CTTCGAGGACATCGCGTGAGTCGGAGCGGCCACCTTGTCATACCCGCTGGTCCTACATGGGGTGTGGAGTGGACAGTCAGGCCATGGGCTGTTCTCCAGGCTGGGAAGAGGAGGAGAAGGGACTGCCCGGCTAGGATGGGGGGTGGGAGAACAGTCTGTGAGTAGCACAGAAGGGGCATGAGCCAGGCAGGAGAGTGGAGCTCAGATTCCCAGGGCTGTGGGGCTGGGGGAAGGTGGGGTGAGGGAGCTGCCAGGGGGCCAGCAAGGAGGCATTGAACAGAGTTCAGAAACGTTTGTCCATCTAGGTGGATAGAAAGGGT... |
Task1_train_11072 | Gene NT5C3A (5'-nucleotidase, cytosolic IIIA), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | TCTAAATCCTGAAGATGAATGATGAGGCAGAGCCAGAGATGTGGAGTGGGTAGCTGGACTGTACAGAGAGATGCTGGCTCCTAATGTCGCAGTGCTGCTCAGATTCAGTCACCACGAGACCCAGCTCCACTGCTTCCTGTCTCGGCTTCTGAAACTTGCAGACTTGTACCTTTTACTGATGTTTTAAATGGGAGAAAATAATTTTCAGAGGTCTCAGTATTTTCTGAAGGGCAGACAAAATTTTCCCTGAAATATCTTTAGACTTAAATAATTTCTGAAAATATTCAATCTAAATAGCCACTATGACAAGGACTTTAGAA... | TCTAAATCCTGAAGATGAATGATGAGGCAGAGCCAGAGATGTGGAGTGGGTAGCTGGACTGTACAGAGAGATGCTGGCTCCTAATGTCGCAGTGCTGCTCAGATTCAGTCACCACGAGACCCAGCTCCACTGCTTCCTGTCTCGGCTTCTGAAACTTGCAGACTTGTACCTTTTACTGATGTTTTAAATGGGAGAAAATAATTTTCAGAGGTCTCAGTATTTTCTGAAGGGCAGACAAAATTTTCCCTGAAATATCTTTAGACTTAAATAATTTCTGAAAATATTCAATCTAAATAGCCACTATGACAAGGACTTTAGAA... |
Task1_train_11073 | Given this context: Chromosome 7, gene NT5C3A (5'-nucleotidase, cytosolic IIIA) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | ATCAGCCAGGTGTAGTGGTGTGCGCCTGTAGTTCCAGCTACCTGAGGGGCTGAGGTGGGAGCATTGCTTGAGCCGGGAAGGTCGAGGCTGCAGTGAGATGTGATTGCATCACTACACTCTAGCCTCGGTAACAGAGGCTTGTCTCAAAAAAAAAAGTCTCTAAAATAACTACTTTCTCAGGTGACTATGGCAACAATTGCCTATCAAGTTTCATCCTAATATTTTCTTCGAAAAAAATTACAGATTTGTATACTTACTCTATCATTTAGATATCCAATTTTCAGAATGTGCTCAACATTGGCCACTCCATCTGCCATTCT... | ATCAGCCAGGTGTAGTGGTGTGCGCCTGTAGTTCCAGCTACCTGAGGGGCTGAGGTGGGAGCATTGCTTGAGCCGGGAAGGTCGAGGCTGCAGTGAGATGTGATTGCATCACTACACTCTAGCCTCGGTAACAGAGGCTTGTCTCAAAAAAAAAAGTCTCTAAAATAACTACTTTCTCAGGTGACTATGGCAACAATTGCCTATCAAGTTTCATCCTAATATTTTCTTCGAAAAAAATTACAGATTTGTATACTTACTCTATCATTTAGATATCCAATTTTCAGAATGTGCTCAACATTGGCCACTCCATCTGCCATTCT... |
Task1_train_11074 | The gene NT5C3A (5'-nucleotidase, cytosolic IIIA) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | AAGTATACTTAAATCCCTTTTAACTTGATTTATACATTCCTTTCATATGTCTTTCCTAAGTATTTTGCTAAAAAATTTTTAAATGGCCTTGGTTCAAAAATTTTAAGTCTTGACATTTTTAATCTGGAGAAACAAAATACAAATTAGAATTTAAATCTCATAAGGCTCTTACTACCTACACCAAGATCTAATACGTCATTCTAAATTCCTTATCTTACCACTATGTATTTTGTGATAGGTGGCATATTTTGGATATGGTTATATAAGGAATATTCAATCTTATTTTTAAAAAGTACAACTGACTACATAAATAGCAATAA... | AAGTATACTTAAATCCCTTTTAACTTGATTTATACATTCCTTTCATATGTCTTTCCTAAGTATTTTGCTAAAAAATTTTTAAATGGCCTTGGTTCAAAAATTTTAAGTCTTGACATTTTTAATCTGGAGAAACAAAATACAAATTAGAATTTAAATCTCATAAGGCTCTTACTACCTACACCAAGATCTAATACGTCATTCTAAATTCCTTATCTTACCACTATGTATTTTGTGATAGGTGGCATATTTTGGATATGGTTATATAAGGAATATTCAATCTTATTTTTAAAAAGTACAACTGACTACATAAATAGCAATAA... |
Task1_train_11075 | Consider this mutation in BBS9 (Bardet-Biedl syndrome 9) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Bardet-Biedl syndrome | AGGTTCAGAGCGCTCTGCTCTTCAACATGAGCAGGAAACATTTATGGACAGACAATGCAAGTGAGGTACAGAAACAGCTTCATTCCTGACAGCTTAGCATTTACCTTACTTGAACATGGTCTGGTCAGTTGGCTGCCTACGATTGGCTGAATGTCAGCTACCATGATTGGCCAGGCTGAGAAAGGCAAAAGGGAGGGAAAAAAAAATCTTTACTTATCTTAGGTTCTCCAGCTGGGGCTCTATAAATTAGACTGGCCAAAGACTAATTAACAATAGGAAAAACAAGCAGAAATTTATTAACATATGCATTGCTCATGTAC... | AGGTTCAGAGCGCTCTGCTCTTCAACATGAGCAGGAAACATTTATGGACAGACAATGCAAGTGAGGTACAGAAACAGCTTCATTCCTGACAGCTTAGCATTTACCTTACTTGAACATGGTCTGGTCAGTTGGCTGCCTACGATTGGCTGAATGTCAGCTACCATGATTGGCCAGGCTGAGAAAGGCAAAAGGGAGGGAAAAAAAAATCTTTACTTATCTTAGGTTCTCCAGCTGGGGCTCTATAAATTAGACTGGCCAAAGACTAATTAACAATAGGAAAAACAAGCAGAAATTTATTAACATATGCATTGCTCATGTAC... |
Task1_train_11076 | The gene BBS9 (Bardet-Biedl syndrome 9) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Bardet-Biedl syndrome 9 | TTGGTTTAAATCTTTAATCTACTTTGAGTGGATTTTGGTTGTATAGTGTAAGATAAGGATCTTTTTTTTTTTTTTTTGCATGTGGATATCCAGTTTTCCCAGCACCACTTATTGAAGAGACTGTTCTTTCACCATTGTGTATTCTTGGCGCCTTTGCTGAAGATTAGCTGATAACCTTGGAGCTCTTATACAAATATACTCATTTTACAAATGAGAAGGCTGAAGCTACAGGAATATCAGTAACTTGTTTATAAAAACGACAATTCTTAGAACCATAATTAAAATAAGAATTGATGCCCTTAGTGGGACCTGGGAATCCT... | TTGGTTTAAATCTTTAATCTACTTTGAGTGGATTTTGGTTGTATAGTGTAAGATAAGGATCTTTTTTTTTTTTTTTTGCATGTGGATATCCAGTTTTCCCAGCACCACTTATTGAAGAGACTGTTCTTTCACCATTGTGTATTCTTGGCGCCTTTGCTGAAGATTAGCTGATAACCTTGGAGCTCTTATACAAATATACTCATTTTACAAATGAGAAGGCTGAAGCTACAGGAATATCAGTAACTTGTTTATAAAAACGACAATTCTTAGAACCATAATTAAAATAAGAATTGATGCCCTTAGTGGGACCTGGGAATCCT... |
Task1_train_11077 | This is a variant in BBS9 (Bardet-Biedl syndrome 9), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Bardet-Biedl syndrome | GCTCCATCAGGCTAATAGCGGACCTTTCGGCAGAAACCCTACAAGCCAGAAGAGATTGGAGGCCTGTATTCAATATTCATAAAGAAAAAATATTCAACCAAGAATGTCATATCCAGCCAAACTAAGCTTCATATGTGAAGGAGAAATAAGGATCTTTTCAGACAAGCAAATGAGAAGGGAAATTGTTACTACCAGACCTGCCTTACTAGAGCTCCTGAAAGAAGCACTAAATATGGAAAAGAAAGACTGTTACTAACCAATACAAAAAACACTTAAATACTTAAATACATGGAGTAATGACACTATAAAGCAGCCATACA... | GCTCCATCAGGCTAATAGCGGACCTTTCGGCAGAAACCCTACAAGCCAGAAGAGATTGGAGGCCTGTATTCAATATTCATAAAGAAAAAATATTCAACCAAGAATGTCATATCCAGCCAAACTAAGCTTCATATGTGAAGGAGAAATAAGGATCTTTTCAGACAAGCAAATGAGAAGGGAAATTGTTACTACCAGACCTGCCTTACTAGAGCTCCTGAAAGAAGCACTAAATATGGAAAAGAAAGACTGTTACTAACCAATACAAAAAACACTTAAATACTTAAATACATGGAGTAATGACACTATAAAGCAGCCATACA... |
Task1_train_11078 | Gene BMPER (BMP binding endothelial regulator) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Diaphanospondylodysostosis | GAGGACTTCCTCAGGAGTATAATTTCAAAACCTTAGGAGGTACCTTGGCCTTTCCAAGCTGAGGTCCATCTGTAGCATGCTCAAAAGCTCAAAAACGTTGGTTGGTCTGGGAAGTCTTGCTGAGAAGGTGGAGTTAAGGACCTGGAAAAGTCCTTCTCTTCAACTGGGTGCATCTGGTCATCAGGTTACTATGTAGTCCTTTTGTGGCACATGTTGGTATTACTTCCGAACTGTCATTCTCCTGATGCCACTTGGGGTCCCAAAGAACTGCCTTGTTCTCCCTCAACCAAAAAGCAACATTTTCATGGCCAGGGAGAGAT... | GAGGACTTCCTCAGGAGTATAATTTCAAAACCTTAGGAGGTACCTTGGCCTTTCCAAGCTGAGGTCCATCTGTAGCATGCTCAAAAGCTCAAAAACGTTGGTTGGTCTGGGAAGTCTTGCTGAGAAGGTGGAGTTAAGGACCTGGAAAAGTCCTTCTCTTCAACTGGGTGCATCTGGTCATCAGGTTACTATGTAGTCCTTTTGTGGCACATGTTGGTATTACTTCCGAACTGTCATTCTCCTGATGCCACTTGGGGTCCCAAAGAACTGCCTTGTTCTCCCTCAACCAAAAAGCAACATTTTCATGGCCAGGGAGAGAT... |
Task1_train_11079 | A mutation in TBX20 (T-box transcription factor 20), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Atrial septal defect 4 | TCCTGTTAGAACTCTCATTTAGTTAAAATAATAACAGTAAAGGTTTGCATGTGCTTTTTTAAGGATGGTACTCCTGGAAAAACTGTATTATTAGCAATGAATTTCACAAGAGTAAATATGCATGATCCCTAATATGTTAACTGAGGAATGTTTCATGTAAAAGAACCAGTTATTGAATTACATTCATCCACTAAAATTATAAAGGGAGAAAATAAGACTTGGCTTTATTTTTTTACTTAAAAATCTCTGAACCTTTATTGGTCAAAAACAACTGAATTTTACCTAAATGTTGTTTATTATATGCAGTTATAACCATATGA... | TCCTGTTAGAACTCTCATTTAGTTAAAATAATAACAGTAAAGGTTTGCATGTGCTTTTTTAAGGATGGTACTCCTGGAAAAACTGTATTATTAGCAATGAATTTCACAAGAGTAAATATGCATGATCCCTAATATGTTAACTGAGGAATGTTTCATGTAAAAGAACCAGTTATTGAATTACATTCATCCACTAAAATTATAAAGGGAGAAAATAAGACTTGGCTTTATTTTTTTACTTAAAAATCTCTGAACCTTTATTGGTCAAAAACAACTGAATTTTACCTAAATGTTGTTTATTATATGCAGTTATAACCATATGA... |
Task1_train_11080 | This mutation is located in gene ANLN (anillin, actin binding protein) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Focal segmental glomerulosclerosis 8 | TAAACAGAAATGAGAGTGGGGAAGCGGTTATGGGGTAGGTAGAAATCTGCAATTTCCAGTTGAGCCAGAATGAGAATTGGAAACAATAGCAAGATCCCCAGATGGAATAGGACTAGTTAGTCCCAATTTTCTAAAGACTTAAGCTTAGATAAGAGGCATTCTTTTTAATTGTTCTTGGCTACTGGATATACCCAGAATCACATTTCCAGGGTTTCAGAGATATTTATTTTAGATACTTCATTGTATTCTTAATGGACTCTAGTTTGGAATATGGCCTGAAGTAGTAATAAGTGATAGGTGAAGTCCTCAAATTATGGCCG... | TAAACAGAAATGAGAGTGGGGAAGCGGTTATGGGGTAGGTAGAAATCTGCAATTTCCAGTTGAGCCAGAATGAGAATTGGAAACAATAGCAAGATCCCCAGATGGAATAGGACTAGTTAGTCCCAATTTTCTAAAGACTTAAGCTTAGATAAGAGGCATTCTTTTTAATTGTTCTTGGCTACTGGATATACCCAGAATCACATTTCCAGGGTTTCAGAGATATTTATTTTAGATACTTCATTGTATTCTTAATGGACTCTAGTTTGGAATATGGCCTGAAGTAGTAATAAGTGATAGGTGAAGTCCTCAAATTATGGCCG... |
Task1_train_11081 | Given this variant in gene ANLN (anillin, actin binding protein) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Focal segmental glomerulosclerosis 8 | GTTGCTGCCCTCCCACGCTCTGTACTGGTAGAGGGGTGTTTCAGGGAAAAACTCTCTGGGATTATGTTTTCCTCTGTTTTCATACCACCACAACAATCATCAACACAGAAGACTTTTGTGACCAGTTCAATTCAATTCAATTCTGACACTAGCTACATGGAAGTAGTGTCAGATCCCACAGGTTGGGGACTCAGTCCCCAAGACTGCCTCCTCTCCTTCAGATACCAGTTGCAAGTGCAAGTCCAGGCCTCTCAAACTTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCCCAGACTAGAGTGCA... | GTTGCTGCCCTCCCACGCTCTGTACTGGTAGAGGGGTGTTTCAGGGAAAAACTCTCTGGGATTATGTTTTCCTCTGTTTTCATACCACCACAACAATCATCAACACAGAAGACTTTTGTGACCAGTTCAATTCAATTCAATTCTGACACTAGCTACATGGAAGTAGTGTCAGATCCCACAGGTTGGGGACTCAGTCCCCAAGACTGCCTCCTCTCCTTCAGATACCAGTTGCAAGTGCAAGTCCAGGCCTCTCAAACTTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCCCAGACTAGAGTGCA... |
Task1_train_11082 | This variant impacts the gene VPS41 (VPS41 subunit of HOPS complex) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Spinocerebellar ataxia, autosomal recessive 29 | AGCAGAATACGTCTAATGTGACCTGGAGGAATATGACACTAAAAAAATGATAGCATCATGGAACACAAATCAGGCTGAGAAACACATAAGATACACAATGGCTCTCTACTGTTGTTGCTCATCTCTACAGCATGACAGCTGTCAACTGGGCCTGAATGAATTCCTTCAAATGGGTATGCTTTTATGTTTACTATAGTACATAGAACATTTCTAAATATTTTTACATTTGAAAACTAGATTAATTTTTGTTATGTGATATAAATCCACATTGTAATTTTTTTTTAACCCATACAGCCATAAGGATGAAGGGTTACAGTTTA... | AGCAGAATACGTCTAATGTGACCTGGAGGAATATGACACTAAAAAAATGATAGCATCATGGAACACAAATCAGGCTGAGAAACACATAAGATACACAATGGCTCTCTACTGTTGTTGCTCATCTCTACAGCATGACAGCTGTCAACTGGGCCTGAATGAATTCCTTCAAATGGGTATGCTTTTATGTTTACTATAGTACATAGAACATTTCTAAATATTTTTACATTTGAAAACTAGATTAATTTTTGTTATGTGATATAAATCCACATTGTAATTTTTTTTTAACCCATACAGCCATAAGGATGAAGGGTTACAGTTTA... |
Task1_train_11083 | A sequence alteration has been identified in VPS41 (VPS41 subunit of HOPS complex) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Spinocerebellar ataxia, autosomal recessive 29 | CACACCCAACCAGAACTTACTTTAAGGAAAACGGAGTGAGAATCTTGAGTTAGTAATACTGTCATGAACCTCTCCTTTAAGACAGCTTTGGGTACCTGATAGGGTAGAGTGCTATGTTTTCTACAAATATACAGATTTCCCACAATAGGTCCTGACAAACAGATAATCTCTTATGAAGAAGTCTCAGTAACCTGAAACATGAAAACCCATTTAGGGAGTCCTAAAAATATGGATTACTACTTGATTATCTTATAATGGTCTGTTTCACCATTACCACCTCTAATCCATGCTCAAAATTCTCTTTCAGTGGGACACGAGAT... | CACACCCAACCAGAACTTACTTTAAGGAAAACGGAGTGAGAATCTTGAGTTAGTAATACTGTCATGAACCTCTCCTTTAAGACAGCTTTGGGTACCTGATAGGGTAGAGTGCTATGTTTTCTACAAATATACAGATTTCCCACAATAGGTCCTGACAAACAGATAATCTCTTATGAAGAAGTCTCAGTAACCTGAAACATGAAAACCCATTTAGGGAGTCCTAAAAATATGGATTACTACTTGATTATCTTATAATGGTCTGTTTCACCATTACCACCTCTAATCCATGCTCAAAATTCTCTTTCAGTGGGACACGAGAT... |
Task1_train_11084 | A variant on Chromosome 7 in gene VPS41 (VPS41 subunit of HOPS complex) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hyperimmunoglobulin D with periodic fever | AATCACTTCACTAGACCATAGAAAAGGCTCTTTTATATGTATAAGAAAAGCATCAGCAATGTGAATCTCATTTTATACTTTCGTTCCCTGGCCAAACAGCCCTTGCCTGTGAACTCCCTAAGAGCAGAAATCTGGTTTTGTTGATCTTGGATCTCCAGTGCCCAGCACAATTTCTAACACACATGTGCTTTATCAATGAATGAAAGAAAAGTAAAATACTAGGAGAACACCTTAATAAATTAAAGTGTACCAAGCAGATGGAATAGTACACAACCACTAAACACAATGATGGTGGCAAGTACACAGACATACGCAGGGAA... | AATCACTTCACTAGACCATAGAAAAGGCTCTTTTATATGTATAAGAAAAGCATCAGCAATGTGAATCTCATTTTATACTTTCGTTCCCTGGCCAAACAGCCCTTGCCTGTGAACTCCCTAAGAGCAGAAATCTGGTTTTGTTGATCTTGGATCTCCAGTGCCCAGCACAATTTCTAACACACATGTGCTTTATCAATGAATGAAAGAAAAGTAAAATACTAGGAGAACACCTTAATAAATTAAAGTGTACCAAGCAGATGGAATAGTACACAACCACTAAACACAATGATGGTGGCAAGTACACAGACATACGCAGGGAA... |
Task1_train_11085 | This variant affects the gene POU6F2 (POU class 6 homeobox 2) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Wilms tumor 5 | TTTCATGTTAGTGTGTAGGTGGCTTTGGTGTTTTTCAGACCCAAGTTACGTTCATATATGCCCCTCCTGCTTTCCTTTGCATCTGGTGTATACCTGAACATATTTAATTCTGTATTATTTTTTGCTTGCAGATGTCAAATTAGTCTATGTAACTCAAAGGCTTAGGTTTATGCCTTTCCAGTCAAGCTGCTGTTATGGAAAACAAATACCCAAGCAATATGAACTTACGGATATGGAGGAAGGGAGACATATTTGGGACCAAGGCTCATTAGTAGGTTAGGGTCTGCTGTACCTACCCGTCTGCCAACATCTATCTGCCA... | TTTCATGTTAGTGTGTAGGTGGCTTTGGTGTTTTTCAGACCCAAGTTACGTTCATATATGCCCCTCCTGCTTTCCTTTGCATCTGGTGTATACCTGAACATATTTAATTCTGTATTATTTTTTGCTTGCAGATGTCAAATTAGTCTATGTAACTCAAAGGCTTAGGTTTATGCCTTTCCAGTCAAGCTGCTGTTATGGAAAACAAATACCCAAGCAATATGAACTTACGGATATGGAGGAAGGGAGACATATTTGGGACCAAGGCTCATTAGTAGGTTAGGGTCTGCTGTACCTACCCGTCTGCCAACATCTATCTGCCA... |
Task1_train_11086 | This mutation occurs in RALA (RAS like proto-oncogene A) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hiatt-Neu-Cooper neurodevelopmental syndrome | ACTAACGATAGCTGATGAGCTAAAAAAAAAAAAAAAAGAAAAAAAAAAGTTGCATAATGTTTTAAGAAAGTTTACAAATTTGTGTTGGGCATTCAAAGGGCCGCATGTGGCCCACGGGCCACAGGTTGGACAAGCTTGGCTTAAAGCATTTCTCAGGGTTAAGTCAGACTGCAAACATTTGTGTATTCATTCATTCATTCAATGCTTTTGCACTAAATGGCGGATTTTGCCAGCCATGTTAGTTACATTAAGCAGACTATTAACCCAAGTGAACATGGTCCTGAACTCACTGTTTCTGGTATACTAGAGGAATACTTATA... | ACTAACGATAGCTGATGAGCTAAAAAAAAAAAAAAAAGAAAAAAAAAAGTTGCATAATGTTTTAAGAAAGTTTACAAATTTGTGTTGGGCATTCAAAGGGCCGCATGTGGCCCACGGGCCACAGGTTGGACAAGCTTGGCTTAAAGCATTTCTCAGGGTTAAGTCAGACTGCAAACATTTGTGTATTCATTCATTCATTCAATGCTTTTGCACTAAATGGCGGATTTTGCCAGCCATGTTAGTTACATTAAGCAGACTATTAACCCAAGTGAACATGGTCCTGAACTCACTGTTTCTGGTATACTAGAGGAATACTTATA... |
Task1_train_11087 | A mutation found in RALA (RAS like proto-oncogene A) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hiatt-Neu-Cooper neurodevelopmental syndrome | CTGAAAATAAGGCAAGAAGATTTTTCCCAGTTTTTCAAGCATCACTATAAAATGCCTGCAGCCAGGTACAGTGGCTCACAGCAGTAATCCCAGCAATTTGGGAGGCTGAAGCAGGCAGATCACTTGAGTTCAGGAGTTCAAGACCAGTCTGGACAACATGGTGAAACCCCATCTCTACAAAAAAAAGAAAAAAAGAAAAAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTATAGTATAGGTGTGCTACTCGGGAAGTTGAGGTAAGAGAATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCGTGATCATGCCACT... | CTGAAAATAAGGCAAGAAGATTTTTCCCAGTTTTTCAAGCATCACTATAAAATGCCTGCAGCCAGGTACAGTGGCTCACAGCAGTAATCCCAGCAATTTGGGAGGCTGAAGCAGGCAGATCACTTGAGTTCAGGAGTTCAAGACCAGTCTGGACAACATGGTGAAACCCCATCTCTACAAAAAAAAGAAAAAAAGAAAAAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTATAGTATAGGTGTGCTACTCGGGAAGTTGAGGTAAGAGAATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCGTGATCATGCCACT... |
Task1_train_11088 | A variant affecting Chromosome 7, within the gene RALA (RAS like proto-oncogene A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hiatt-Neu-Cooper neurodevelopmental syndrome | GCAGTAATCCCAGCAATTTGGGAGGCTGAAGCAGGCAGATCACTTGAGTTCAGGAGTTCAAGACCAGTCTGGACAACATGGTGAAACCCCATCTCTACAAAAAAAAGAAAAAAAGAAAAAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTATAGTATAGGTGTGCTACTCGGGAAGTTGAGGTAAGAGAATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCGTGATCATGCCACTGCACTACAGCCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAGAAAAAAAAAAAAAGTCTGCAAAACCAAGTGTACT... | GCAGTAATCCCAGCAATTTGGGAGGCTGAAGCAGGCAGATCACTTGAGTTCAGGAGTTCAAGACCAGTCTGGACAACATGGTGAAACCCCATCTCTACAAAAAAAAGAAAAAAAGAAAAAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTATAGTATAGGTGTGCTACTCGGGAAGTTGAGGTAAGAGAATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCGTGATCATGCCACTGCACTACAGCCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAGAAAAAAAAAAAAAGTCTGCAAAACCAAGTGTACT... |
Task1_train_11089 | Given a variant located on Chromosome 7 and affecting RALA (RAS like proto-oncogene A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neurodevelopmental delay | CAGTAATCCCAGCAATTTGGGAGGCTGAAGCAGGCAGATCACTTGAGTTCAGGAGTTCAAGACCAGTCTGGACAACATGGTGAAACCCCATCTCTACAAAAAAAAGAAAAAAAGAAAAAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTATAGTATAGGTGTGCTACTCGGGAAGTTGAGGTAAGAGAATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCGTGATCATGCCACTGCACTACAGCCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAGAAAAAAAAAAAAAGTCTGCAAAACCAAGTGTACTT... | CAGTAATCCCAGCAATTTGGGAGGCTGAAGCAGGCAGATCACTTGAGTTCAGGAGTTCAAGACCAGTCTGGACAACATGGTGAAACCCCATCTCTACAAAAAAAAGAAAAAAAGAAAAAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTATAGTATAGGTGTGCTACTCGGGAAGTTGAGGTAAGAGAATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCGTGATCATGCCACTGCACTACAGCCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAGAAAAAAAAAAAAAGTCTGCAAAACCAAGTGTACTT... |
Task1_train_11090 | Consider this mutation in CDK13 (cyclin dependent kinase 13) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | TTGCTACTTAAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCA... | TTGCTACTTAAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCA... |
Task1_train_11091 | With a mutation on Chromosome 7 in gene CDK13 (cyclin dependent kinase 13), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Global developmental delay | TGCTACTTAAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCAT... | TGCTACTTAAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCAT... |
Task1_train_11092 | Consider this mutation in CDK13 (cyclin dependent kinase 13) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | TGCTACTTAAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCAT... | TGCTACTTAAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCAT... |
Task1_train_11093 | The gene CDK13 (cyclin dependent kinase 13) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | TGCTACTTAAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCAT... | TGCTACTTAAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCAT... |
Task1_train_11094 | A genomic change on Chromosome 7 affects CDK13 (cyclin dependent kinase 13). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autism spectrum disorder | AAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCATAAAACACT... | AAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCATAAAACACT... |
Task1_train_11095 | A mutation on Chromosome 7 affecting CDK13 (cyclin dependent kinase 13) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | AAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCATAAAACACT... | AAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCATAAAACACT... |
Task1_train_11096 | This is a variant in CDK13 (cyclin dependent kinase 13), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | AAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCATAAAACACT... | AAATGTAAGTCATAAGCATATTTTTATTAGTCAACAAAATTTTTGTTTTATTTGTCTGACTTCTTTCACTTTCAGCTTACGAGGAAATATTTCAGTAAAAGCAGTTAAAAAAGAAGTAGAAAAGAAACTCCGATGTCTTCTTGCTGATTTACCGCTGCCCCCTGAGCTACCAGGAGGAGATGATCTTTCAAAGAGTCCAGAGGAAAAGAAAACAGCAACACAGTTACATAGTAAAAGGAGGCCTAAGTATGTGCTTGCTTTCTACCTGCTCTTAAATTGACCAGCAGTGATTCTGGGTCATCAGAAGTTCATAAAACACT... |
Task1_train_11097 | This variant lies on Chromosome 7 and affects the gene CDK13 (cyclin dependent kinase 13). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | TAGTAGTAAATTTTTTTTGTCATAAGCCTTACACAACACTTTCATTTAGCCTTCAGTTTTTTTTCCTGCAGTAACTATCCTTGGAGGCCAGTTTTAGCAGCTTAATCTTTCAGAACATAATCAGGAATTCAGAGAAAGTTTTAAAAGGCTTCACAGGAGAGCAAAAAGTAGCTGTGTCAGAAGCTATGTATTTTACTTAATAATGCATAGAGCTAGTATTTTATCTTTCTTTACTCATAACTGCTTATTGAAATAAACCAATAGGCCGGGCGTGATTGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGACAGGC... | TAGTAGTAAATTTTTTTTGTCATAAGCCTTACACAACACTTTCATTTAGCCTTCAGTTTTTTTTCCTGCAGTAACTATCCTTGGAGGCCAGTTTTAGCAGCTTAATCTTTCAGAACATAATCAGGAATTCAGAGAAAGTTTTAAAAGGCTTCACAGGAGAGCAAAAAGTAGCTGTGTCAGAAGCTATGTATTTTACTTAATAATGCATAGAGCTAGTATTTTATCTTTCTTTACTCATAACTGCTTATTGAAATAAACCAATAGGCCGGGCGTGATTGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGACAGGC... |
Task1_train_11098 | Consider a variant on Chromosome 7 in gene CDK13 (cyclin dependent kinase 13). Determine its clinical classification and disease relevance. | Pathogenic; Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | AATTTTTTTTGTCATAAGCCTTACACAACACTTTCATTTAGCCTTCAGTTTTTTTTCCTGCAGTAACTATCCTTGGAGGCCAGTTTTAGCAGCTTAATCTTTCAGAACATAATCAGGAATTCAGAGAAAGTTTTAAAAGGCTTCACAGGAGAGCAAAAAGTAGCTGTGTCAGAAGCTATGTATTTTACTTAATAATGCATAGAGCTAGTATTTTATCTTTCTTTACTCATAACTGCTTATTGAAATAAACCAATAGGCCGGGCGTGATTGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGACAGGCAGATCACC... | AATTTTTTTTGTCATAAGCCTTACACAACACTTTCATTTAGCCTTCAGTTTTTTTTCCTGCAGTAACTATCCTTGGAGGCCAGTTTTAGCAGCTTAATCTTTCAGAACATAATCAGGAATTCAGAGAAAGTTTTAAAAGGCTTCACAGGAGAGCAAAAAGTAGCTGTGTCAGAAGCTATGTATTTTACTTAATAATGCATAGAGCTAGTATTTTATCTTTCTTTACTCATAACTGCTTATTGAAATAAACCAATAGGCCGGGCGTGATTGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGACAGGCAGATCACC... |
Task1_train_11099 | Mutation context: Chromosome 7, Gene CDK13 (cyclin dependent kinase 13). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | TTCAGTTTTTTTTCCTGCAGTAACTATCCTTGGAGGCCAGTTTTAGCAGCTTAATCTTTCAGAACATAATCAGGAATTCAGAGAAAGTTTTAAAAGGCTTCACAGGAGAGCAAAAAGTAGCTGTGTCAGAAGCTATGTATTTTACTTAATAATGCATAGAGCTAGTATTTTATCTTTCTTTACTCATAACTGCTTATTGAAATAAACCAATAGGCCGGGCGTGATTGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGACAGGCAGATCACCTAAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAAC... | TTCAGTTTTTTTTCCTGCAGTAACTATCCTTGGAGGCCAGTTTTAGCAGCTTAATCTTTCAGAACATAATCAGGAATTCAGAGAAAGTTTTAAAAGGCTTCACAGGAGAGCAAAAAGTAGCTGTGTCAGAAGCTATGTATTTTACTTAATAATGCATAGAGCTAGTATTTTATCTTTCTTTACTCATAACTGCTTATTGAAATAAACCAATAGGCCGGGCGTGATTGCTCATGCCTATAATCCTAGCACTTTGGGAGGCTGAGACAGGCAGATCACCTAAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAAC... |
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