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_22900 | A mutation found in FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Spastic paraplegia | GAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTC... | GAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTC... |
Task1_train_22901 | Here is a variant affecting FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Spastic paraplegia | TCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATG... | TCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATG... |
Task1_train_22902 | Given this context: Chromosome 16, gene FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary spastic paraplegia 35 | CCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGC... | CCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGC... |
Task1_train_22903 | This genomic variant is located on Chromosome 16, within the FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Spastic paraplegia | CCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGC... | CCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGC... |
Task1_train_22904 | A genomic change on Chromosome 16 affects LDHD (lactate dehydrogenase D). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Lactic aciduria due to D-lactic acid | ACCCCATGAAGAGGTGGGTGCAAAAATAGTCTCATCTCTGTTTCTAGAGACGTGGCAGCTGCTGAGGAACACATTCAGTGTGTTCAGAGGCCCGGTTCAGGCCCAGTTGGGGAGCCCATCCTGAGTGACATGTGCCGTGGGCAGGTCCTCAGCTCTGAGGCGGAGTAGCTGGGACAGGGACCTGGGTTCCTTTCCGAACCCTGAGCACCAACCTCCTCCCCAGGCTATAAGAAGTCAGAGGACAGCCCCAAAACAAAGGGGTCACTGACCAAAGGACAGAGACCCTGGAGGGGGAGGGGAGGAAGTGCTGCCTGCTGACT... | ACCCCATGAAGAGGTGGGTGCAAAAATAGTCTCATCTCTGTTTCTAGAGACGTGGCAGCTGCTGAGGAACACATTCAGTGTGTTCAGAGGCCCGGTTCAGGCCCAGTTGGGGAGCCCATCCTGAGTGACATGTGCCGTGGGCAGGTCCTCAGCTCTGAGGCGGAGTAGCTGGGACAGGGACCTGGGTTCCTTTCCGAACCCTGAGCACCAACCTCCTCCCCAGGCTATAAGAAGTCAGAGGACAGCCCCAAAACAAAGGGGTCACTGACCAAAGGACAGAGACCCTGGAGGGGGAGGGGAGGAAGTGCTGCCTGCTGACT... |
Task1_train_22905 | The gene CHST6 (carbohydrate sulfotransferase 6), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Macular corneal dystrophy | GGCTGTTCTTGAATGCCTGACCTCAGGTGATTCATCCCCCTCGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCCACTGCATCCAGCCAAGTTACCCACTCTTAAGGTATTTTGTTATAACCACCTGAACAAGAACAAAGACATTCTCTAAGCCATGTAGTACACATTCATAAATCTGGGGTTTTAAATACCTTCCTCCTATAATTGTCACGAGGGACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGC... | GGCTGTTCTTGAATGCCTGACCTCAGGTGATTCATCCCCCTCGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCCACTGCATCCAGCCAAGTTACCCACTCTTAAGGTATTTTGTTATAACCACCTGAACAAGAACAAAGACATTCTCTAAGCCATGTAGTACACATTCATAAATCTGGGGTTTTAAATACCTTCCTCCTATAATTGTCACGAGGGACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGC... |
Task1_train_22906 | This alteration in CHST6 (carbohydrate sulfotransferase 6) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Macular corneal dystrophy | ACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACC... | ACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACC... |
Task1_train_22907 | This variant impacts the gene CHST6 (carbohydrate sulfotransferase 6) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Macular corneal dystrophy | GTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGT... | GTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGT... |
Task1_train_22908 | The variant affects gene CHST6 (carbohydrate sulfotransferase 6), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Macular corneal dystrophy | CCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTT... | CCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTTGCCCTGCTTGCTTTGCAGGGAGGATGTGACTCCACAATCCAGGTTCCCCCAATCTGTGGCCACACCCAGGATGAGGATCAGAAGCTAGTGACCACCAGCATCGCTCCTGGTAGCTGATGGCAACGTGAGGGAAACTGCCTCATTTCACAGGTAACAGGGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTT... |
Task1_train_22909 | Mutation context: Chromosome 16, Gene CHST6 (carbohydrate sulfotransferase 6). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Macular corneal dystrophy | GGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGC... | GGTCAGAAGTTCTGTTGGCAGCCAACACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGC... |
Task1_train_22910 | This variant affects the gene CHST6 (carbohydrate sulfotransferase 6) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Macular corneal dystrophy | CACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAA... | CACAGTTCCCAGACCAGCTCTGTGTTCCAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAA... |
Task1_train_22911 | This variant impacts the gene CHST6 (carbohydrate sulfotransferase 6) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Macular corneal dystrophy, type II | CAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGAC... | CAATGTGACTTGGGTTCATTTATGTGGCTAACTCAACTTCCCTGTCCTTTCCAGAGGTTCCATGAGCTCTTCTTTTAAACATGTACTGGGCACTTATAGGCTCTCATTTCCTGAGCTCGGGACTAAACCCTCTACACATCCAGCATTCCTTTACTAAGCCCCTTTGCCCCCAGAGCTAGGAGGTGTGGCTCACAGGCAGGGATCATCCTCTGCTTTCCTCCAAGGCCTGGACCAGAAGGACCAAGGGAAGACAGTTCCAGCCCAGAGCCATTTCCCTTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGAC... |
Task1_train_22912 | A variant was discovered in gene CHST6 (carbohydrate sulfotransferase 6), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Macular corneal dystrophy | TTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCT... | TTCCAACCTCTTGGCAAGCCTGATGAGTTCCACTCCCCGCTGACGGGCACACCTGCCTTCCAGGCACTGATCCTGCTTTCCCCCTCTTGCTCTGCCACTCACTGTGCCTGGCTTGCTGCCCAGCCCTCCCCAGCCTTCTCTCCTCCTACCTTTCCCACTTATTGCCTCCTTCCAGGCTTGTCCAGCATGATAAACTCTGGTCTCAGCATTCACAGCCTCCTCTATCTCTCAGCTGTGTCCCTGGTCATGACTCTGCTTGCTCTTCCCTAAAGCAATTAAAATAGGAAAATCTGACCCTTCTCACCCAGGAGGCAGGTCCT... |
Task1_train_22913 | Consider this mutation in TMEM231 (transmembrane protein 231) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Joubert syndrome and related disorders | CCAAACCCTTTCCCTCGAAAAAGGTACATGTGATCTTCCATTTTGACTTTTTTATTTATTTATTTATTTATTTTAACAGATAGGGTCTCACTCTGTCACCCAGGCTACAGTACAGTGGTGCAATCATAGCACACTGCAGCCTCAAGCTCCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGTTGAGATTACAGGAATGAACCACCATGCTCGGCCTCATTTTGAACATTTTAATTAGAAAGTTACAAAACATCATGGGTTCTTTATACAAGATTTGCATTAGAATAATTTAATAAAATGCAAACCAATGTTT... | CCAAACCCTTTCCCTCGAAAAAGGTACATGTGATCTTCCATTTTGACTTTTTTATTTATTTATTTATTTATTTTAACAGATAGGGTCTCACTCTGTCACCCAGGCTACAGTACAGTGGTGCAATCATAGCACACTGCAGCCTCAAGCTCCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGTTGAGATTACAGGAATGAACCACCATGCTCGGCCTCATTTTGAACATTTTAATTAGAAAGTTACAAAACATCATGGGTTCTTTATACAAGATTTGCATTAGAATAATTTAATAAAATGCAAACCAATGTTT... |
Task1_train_22914 | Gene TMEM231 (transmembrane protein 231) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ciliopathy | CAACAGTAAAACCCACTATATATCTACAAGTCTGGGTTTATGGCTGTAATAACCGATAACATCCCTTTTTCATTTTCAGAAGTACCTCAGCTCAACTTCTATGGTCCCCATTGTGATAAAATAAAAGTGAGGAATGAGTGATTAGATGCATGAGTTCTGCACACAGACAGGCTCTGTTATCTTTCAAGATTTGAGCCTTTGGGAAAATTAATCACTTTAAGCCCCAGTTACGTCTTCTGCAAAATGAGTTCATTATTTAAACAAGTATCTCTGTGAGCTTACCATCTGCCAGGCAGTGTGCTAGGCACGGATGTGATAGT... | CAACAGTAAAACCCACTATATATCTACAAGTCTGGGTTTATGGCTGTAATAACCGATAACATCCCTTTTTCATTTTCAGAAGTACCTCAGCTCAACTTCTATGGTCCCCATTGTGATAAAATAAAAGTGAGGAATGAGTGATTAGATGCATGAGTTCTGCACACAGACAGGCTCTGTTATCTTTCAAGATTTGAGCCTTTGGGAAAATTAATCACTTTAAGCCCCAGTTACGTCTTCTGCAAAATGAGTTCATTATTTAAACAAGTATCTCTGTGAGCTTACCATCTGCCAGGCAGTGTGCTAGGCACGGATGTGATAGT... |
Task1_train_22915 | The gene TMEM231 (transmembrane protein 231) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Meckel syndrome, type 11 | TTTATGGCTGTAATAACCGATAACATCCCTTTTTCATTTTCAGAAGTACCTCAGCTCAACTTCTATGGTCCCCATTGTGATAAAATAAAAGTGAGGAATGAGTGATTAGATGCATGAGTTCTGCACACAGACAGGCTCTGTTATCTTTCAAGATTTGAGCCTTTGGGAAAATTAATCACTTTAAGCCCCAGTTACGTCTTCTGCAAAATGAGTTCATTATTTAAACAAGTATCTCTGTGAGCTTACCATCTGCCAGGCAGTGTGCTAGGCACGGATGTGATAGTATTTGAGATGCCACTGCTGTCAAGGCTGAGGGAGAC... | TTTATGGCTGTAATAACCGATAACATCCCTTTTTCATTTTCAGAAGTACCTCAGCTCAACTTCTATGGTCCCCATTGTGATAAAATAAAAGTGAGGAATGAGTGATTAGATGCATGAGTTCTGCACACAGACAGGCTCTGTTATCTTTCAAGATTTGAGCCTTTGGGAAAATTAATCACTTTAAGCCCCAGTTACGTCTTCTGCAAAATGAGTTCATTATTTAAACAAGTATCTCTGTGAGCTTACCATCTGCCAGGCAGTGTGCTAGGCACGGATGTGATAGTATTTGAGATGCCACTGCTGTCAAGGCTGAGGGAGAC... |
Task1_train_22916 | The gene TMEM231 (transmembrane protein 231) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Meckel syndrome, type 11 | ATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAACTCTGATAACATTTTGGTTCTCAGTTTTCCTTACTTTTCATTTCCCTGCAGTTAATAATTATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGG... | ATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAACTCTGATAACATTTTGGTTCTCAGTTTTCCTTACTTTTCATTTCCCTGCAGTTAATAATTATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGG... |
Task1_train_22917 | The gene TMEM231 (transmembrane protein 231), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Joubert syndrome 20 | ATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAACTCTGATAACATTTTGGTTCTCAGTTTTCCTTACTTTTCATTTCCCTGCAGTTAATAATTATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGG... | ATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAACTCTGATAACATTTTGGTTCTCAGTTTTCCTTACTTTTCATTTCCCTGCAGTTAATAATTATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGG... |
Task1_train_22918 | This variant lies on Chromosome 16 and affects the gene TMEM231 (transmembrane protein 231). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Joubert syndrome 20 | TATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGC... | TATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGC... |
Task1_train_22919 | This sequence variant lies in TMEM231 (transmembrane protein 231) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Meckel syndrome, type 11 | TATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGC... | TATTTGCTTAGTTTTCTATGTACTTATACCATTTCATCAAAGAGCTGCTATTCCAATTCCTCAAAATTTGATGTTTAAAGGCATAAGATTTAGTCAAAACCTTGTTCATTGAAATATTGTCCCTAGGCCGGGCACAGTGGCTGACACCTATGATCCCAGCAGTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTTCTCTACTAAAAATCCAAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCACGAGAATTGCTTGAACCCAGGAGGC... |
Task1_train_22920 | A variant was discovered in gene KARS1 (lysyl-tRNA synthetase 1), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | TATCTATTTTCTTTACAAGTGTAGATGCTTGATGAAGTTTGAGACCACGCCTGTTTCTGCTCACCCCAGCAAAGCAGTTAGCAAATTGTGAGCCTGCAACTGTTTGAAGAGAAATGGGGACTTTATGACCCTTCTGTCCCTTCTAGCTTTCACACTCGGTCATTTTTCCTGCCAACCCTCACATACAAGTTGTCTACTGCTGCCTCAGTTCCTTTCTATCCCTAGCCTCCTTAAGACCAGACAGCTGGATTCTGCCTCCATCCTTCCATTAAACCACTTTGTAAAGTCACTCATATCATCAATCCTTGTAGCCTTTTTCA... | TATCTATTTTCTTTACAAGTGTAGATGCTTGATGAAGTTTGAGACCACGCCTGTTTCTGCTCACCCCAGCAAAGCAGTTAGCAAATTGTGAGCCTGCAACTGTTTGAAGAGAAATGGGGACTTTATGACCCTTCTGTCCCTTCTAGCTTTCACACTCGGTCATTTTTCCTGCCAACCCTCACATACAAGTTGTCTACTGCTGCCTCAGTTCCTTTCTATCCCTAGCCTCCTTAAGACCAGACAGCTGGATTCTGCCTCCATCCTTCCATTAAACCACTTTGTAAAGTCACTCATATCATCAATCCTTGTAGCCTTTTTCA... |
Task1_train_22921 | A variant found in Chromosome 16 affects KARS1 (lysyl-tRNA synthetase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Leukoencephalopathy, progressive, infantile-onset, with or without deafness | TGTCAGGAAAGAGGGGCTCCACTTTGATGGCAGGCTCTCAGCCACACCCTTGTCACGTTCTTAGCTCTATTGAATGGAGCTGAAAATAATGAGAAAACTTCAGATTCATTATTCAACATTCTGCTATTTCCATCTGGCTAACAGGCATGTCAAATTTAACATGTCCAAAACCAAACTTCCAACCTTCCCTCTGAAACCTGAACTTCCTGTTTTTCCCATCTCAGTAGAGGGCAACTTTCTTCCAGCTGTTCAGGTCCAAAACCTTGAAATCATTTTTGGCTTCTTTTTCTCACAACCCACATTCCCATCACCAAATTCTT... | TGTCAGGAAAGAGGGGCTCCACTTTGATGGCAGGCTCTCAGCCACACCCTTGTCACGTTCTTAGCTCTATTGAATGGAGCTGAAAATAATGAGAAAACTTCAGATTCATTATTCAACATTCTGCTATTTCCATCTGGCTAACAGGCATGTCAAATTTAACATGTCCAAAACCAAACTTCCAACCTTCCCTCTGAAACCTGAACTTCCTGTTTTTCCCATCTCAGTAGAGGGCAACTTTCTTCCAGCTGTTCAGGTCCAAAACCTTGAAATCATTTTTGGCTTCTTTTTCTCACAACCCACATTCCCATCACCAAATTCTT... |
Task1_train_22922 | With a mutation on Chromosome 16 in gene KARS1 (lysyl-tRNA synthetase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Deafness, congenital, and adult-onset progressive leukoencephalopathy | ATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCT... | ATAGCACCTCTGTCCCCTTACCCTGCTCCATTTTTCTTCTTAGTATATACCACCACCAGAAAGAACATGTATTTACTTGTTTTTTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCT... |
Task1_train_22923 | A variant affecting Chromosome 16, within the gene KARS1, LOC126862402 (lysyl-tRNA synthetase 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 89 | TTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAA... | TTTGTTTGTCTACTTCTTCTCCCTACCCCAAAGAAAGAATACAATTTCCACAAAAGCAGGAACTTGGCTTTTGTTCCCTGCTGTGTCCCCAATCTCTTAGAATAATGCCTGGCACAGGGCAGACATTAATACAAATTTGTTAAATGAATAAGATGGTAAAATCCTAAACATTCATTAGGCCAGAAGTCTGGGGAAAAAAGTTGATATTCTAAAAGTAAAGAGAAGAGACAAATGGCTTATTTGGTAACAGGATTAAAAAGAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAA... |
Task1_train_22924 | Gene KARS1 (lysyl-tRNA synthetase 1) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Leukoencephalopathy, progressive, infantile-onset, with or without deafness | TAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTC... | TAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTC... |
Task1_train_22925 | A variant affecting Chromosome 16, within the gene KARS1 (lysyl-tRNA synthetase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; KARS1-related disorder | TAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTC... | TAAGAAAATAATGTTCTTGCTTGGCAAGTGTATTTTCAAGGCAAGCGTCACGCTTTCCATACGGAGATTAATAATGAAGTTCCTCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTC... |
Task1_train_22926 | The following genetic variant occurs in KARS1 (lysyl-tRNA synthetase 1) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Charcot-Marie-Tooth disease recessive intermediate B | AAAGTTCCTTTTTTTTTTTTTATTTTACTTTAAGTTCTGGGACACATGTGCAGAACACGCAGATTTGTCATATAGGTATACATGTGCCATGGTGGTTTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAG... | AAAGTTCCTTTTTTTTTTTTTATTTTACTTTAAGTTCTGGGACACATGTGCAGAACACGCAGATTTGTCATATAGGTATACATGTGCCATGGTGGTTTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAG... |
Task1_train_22927 | Consider this mutation in ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Microcornea-myopic chorioretinal atrophy | AATAGTATAATATAGTATACTATTATACTATATTATATATAGTATATTAGTATATTAATAGTATAATATATAGTGTCCTATATACTAAATATAAATACTGTAATATATAGTGTCATATATACTATATATAATATAGTGTCATATATGCTATATATAATATACAGTGCAATATATGCTATATATAATATACAGTGCAATATATGCTATATATAATATACAGTGCTATATATGCTATATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAAT... | AATAGTATAATATAGTATACTATTATACTATATTATATATAGTATATTAGTATATTAATAGTATAATATATAGTGTCCTATATACTAAATATAAATACTGTAATATATAGTGTCATATATACTATATATAATATAGTGTCATATATGCTATATATAATATACAGTGCAATATATGCTATATATAATATACAGTGCAATATATGCTATATATAATATACAGTGCTATATATGCTATATATAATATACAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAAT... |
Task1_train_22928 | This variant lies on Chromosome 16 and affects the gene ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | ATAACTGGCAAAGGGTGCGCACCAAGTTAACAGAATGGATACTGGCCATAGCCATTGAGCAGAGACCTAGAAGTGCCTGCTCGGCCAGACATGATGCCTTTAGTTAATGGACAGCCACAACTACGAGCATTCCTGGGAAGAAAAATGGCACCTGGAAAGCTCAGGGAAGTAACTGTGTACTAACTAGTACAGAAATAGTTTAGTACTGTAACACTGGTCCAGCCGTAATAGTGAAACTAGCTCCCTACAGAGTAAAATTAAAAGATAAAATTATTTAGAGTTAGATTTAAAAACTCAGGTTGGCCACTTATGAGCACAGT... | ATAACTGGCAAAGGGTGCGCACCAAGTTAACAGAATGGATACTGGCCATAGCCATTGAGCAGAGACCTAGAAGTGCCTGCTCGGCCAGACATGATGCCTTTAGTTAATGGACAGCCACAACTACGAGCATTCCTGGGAAGAAAAATGGCACCTGGAAAGCTCAGGGAAGTAACTGTGTACTAACTAGTACAGAAATAGTTTAGTACTGTAACACTGGTCCAGCCGTAATAGTGAAACTAGCTCCCTACAGAGTAAAATTAAAAGATAAAATTATTTAGAGTTAGATTTAAAAACTCAGGTTGGCCACTTATGAGCACAGT... |
Task1_train_22929 | This is a variant in ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Microcornea-myopic chorioretinal atrophy | CGCACCAAGTTAACAGAATGGATACTGGCCATAGCCATTGAGCAGAGACCTAGAAGTGCCTGCTCGGCCAGACATGATGCCTTTAGTTAATGGACAGCCACAACTACGAGCATTCCTGGGAAGAAAAATGGCACCTGGAAAGCTCAGGGAAGTAACTGTGTACTAACTAGTACAGAAATAGTTTAGTACTGTAACACTGGTCCAGCCGTAATAGTGAAACTAGCTCCCTACAGAGTAAAATTAAAAGATAAAATTATTTAGAGTTAGATTTAAAAACTCAGGTTGGCCACTTATGAGCACAGTGACGTTGAGCCTCAGTT... | CGCACCAAGTTAACAGAATGGATACTGGCCATAGCCATTGAGCAGAGACCTAGAAGTGCCTGCTCGGCCAGACATGATGCCTTTAGTTAATGGACAGCCACAACTACGAGCATTCCTGGGAAGAAAAATGGCACCTGGAAAGCTCAGGGAAGTAACTGTGTACTAACTAGTACAGAAATAGTTTAGTACTGTAACACTGGTCCAGCCGTAATAGTGAAACTAGCTCCCTACAGAGTAAAATTAAAAGATAAAATTATTTAGAGTTAGATTTAAAAACTCAGGTTGGCCACTTATGAGCACAGTGACGTTGAGCCTCAGTT... |
Task1_train_22930 | Chromosome 16 houses a mutation in gene WWOX (WW domain containing oxidoreductase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive spinocerebellar ataxia 12 | TAGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAA... | TAGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAA... |
Task1_train_22931 | Given this variant in gene WWOX (WW domain containing oxidoreductase) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 1 | TAGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAA... | TAGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAA... |
Task1_train_22932 | With a mutation on Chromosome 16 in gene WWOX (WW domain containing oxidoreductase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal recessive spinocerebellar ataxia 12 | AGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAG... | AGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAG... |
Task1_train_22933 | The gene WWOX (WW domain containing oxidoreductase), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Developmental and epileptic encephalopathy, 1 | AGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAG... | AGAAAGGCAGGTGTCTCCGCTAATGAGTACGTAGAGCAGGAATCCTAAGCAATCATCCATTTCAGAACATGAAGACAAAAAGCAGCTGCCCCTCCCATACACTGCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAG... |
Task1_train_22934 | A genomic change on Chromosome 16 affects WWOX (WW domain containing oxidoreductase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive spinocerebellar ataxia 12 | GAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTACTGGGATTACAGACATGAGCCACCGCGCCCGGCCACAGAGCTGC... | GAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTACTGGGATTACAGACATGAGCCACCGCGCCCGGCCACAGAGCTGC... |
Task1_train_22935 | Gene WWOX (WW domain containing oxidoreductase) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 28 | AACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTACTGGGATTACAGACATGAGCCACCGCGCCCGGCCACAGAGCTGCT... | AACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTACTGGGATTACAGACATGAGCCACCGCGCCCGGCCACAGAGCTGCT... |
Task1_train_22936 | A change on Chromosome 16 affects gene WWOX (WW domain containing oxidoreductase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Malignant tumor of esophagus | GTTTCAAGGTCTCATTTCTGTATCCTTGATGACGTTTCTGGCCATCAGCTTTGTTGATGACTTTAGAGCAGCTATGTCATTTAACACTAGAAATTGGATGTCACCGAGTCCTGTGGAAGGGATATTTAATTTCCATTAAAACATGAATTTCATTCTGCCCTTGCCATGCTTTTCTTGGTCTTAGCCCAACCTGAGCTGCTGATATTAAGGAATAATAGGATAATTCCATAATTTTCATTTTACCTTTTGCTTTTTGTTTTCCATAGCAGTTATCTAGAGGATTCCCATTATGCTTCTTCATTACCCGGTGCCCAGAATGA... | GTTTCAAGGTCTCATTTCTGTATCCTTGATGACGTTTCTGGCCATCAGCTTTGTTGATGACTTTAGAGCAGCTATGTCATTTAACACTAGAAATTGGATGTCACCGAGTCCTGTGGAAGGGATATTTAATTTCCATTAAAACATGAATTTCATTCTGCCCTTGCCATGCTTTTCTTGGTCTTAGCCCAACCTGAGCTGCTGATATTAAGGAATAATAGGATAATTCCATAATTTTCATTTTACCTTTTGCTTTTTGTTTTCCATAGCAGTTATCTAGAGGATTCCCATTATGCTTCTTCATTACCCGGTGCCCAGAATGA... |
Task1_train_22937 | This mutation is located in gene MAF, WWOX (MAF bZIP transcription factor| WW domain containing oxidoreductase) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental and epileptic encephalopathy, 28 | AAAATGAAAATATATGACAGATATCTGGAAGTTGATACAAAACACCATCTCCACCAGAACTCTAAGATTCCAGGCCAAAATAATACTTGGCTTGAGTTAGCTGGATGAGCATCTCAATTCTCCAATTTGTCTTTAGAGGCACTTCTGCTTCCCTTTTCCCCACATGGGATGCAGAAGAGCCAGATAAACCCCTTGAAGTTGTTTAGATAAATGTGCCAGGTGCTAAGCTCAGGGTTATTAGGAATAATAATTCAGTGAAAGGAAATTTGGATGACATGAACTCATTTCCATTAGACTTGAGCCACACAAATCAATGGGAA... | AAAATGAAAATATATGACAGATATCTGGAAGTTGATACAAAACACCATCTCCACCAGAACTCTAAGATTCCAGGCCAAAATAATACTTGGCTTGAGTTAGCTGGATGAGCATCTCAATTCTCCAATTTGTCTTTAGAGGCACTTCTGCTTCCCTTTTCCCCACATGGGATGCAGAAGAGCCAGATAAACCCCTTGAAGTTGTTTAGATAAATGTGCCAGGTGCTAAGCTCAGGGTTATTAGGAATAATAATTCAGTGAAAGGAAATTTGGATGACATGAACTCATTTCCATTAGACTTGAGCCACACAAATCAATGGGAA... |
Task1_train_22938 | A variant was discovered on Chromosome 16, affecting MAF (MAF bZIP transcription factor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cataract 21 multiple types | TAATTTTGAAAAGAAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACA... | TAATTTTGAAAAGAAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACA... |
Task1_train_22939 | This sequence variant lies in MAF (MAF bZIP transcription factor) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cataract 21 multiple types | AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCT... | AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCT... |
Task1_train_22940 | Given this variant in gene MAF (MAF bZIP transcription factor) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Ayme-Gripp syndrome | AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCT... | AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCT... |
Task1_train_22941 | A mutation found in MAF (MAF bZIP transcription factor) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cataract 21 multiple types | AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCT... | AAAAAAAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCT... |
Task1_train_22942 | An alteration has been detected in MAF (MAF bZIP transcription factor) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cataract 21 multiple types | AAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAG... | AAAACATACATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAG... |
Task1_train_22943 | Gene MAF (MAF bZIP transcription factor) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cataract 21 multiple types | ATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAA... | ATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAA... |
Task1_train_22944 | This is a variant in MAF (MAF bZIP transcription factor), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Ayme-Gripp syndrome | ATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAA... | ATTTTTGAATGTAAAATACCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAA... |
Task1_train_22945 | Given a variant located on Chromosome 16 and affecting MAF (MAF bZIP transcription factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cataract 21 multiple types | CCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATAT... | CCCCTACAGATATAAACAGGGGCGTTTCCCCTCTTAATACTTTGGTTTTCAATACAGTCAGTGGTATAGCAAAGACTACACATACCCAACTTATATTTAAGTTGCAAGCACATGCTGTATAAGCTACTTTTTTTAAACAGTCCCCTTGCAAACTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATAT... |
Task1_train_22946 | Given this context: Chromosome 16, gene MAF (MAF bZIP transcription factor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | ACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGAT... | ACTCAAAAAAGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGAT... |
Task1_train_22947 | Here is a genetic alteration in MAF (MAF bZIP transcription factor) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ayme-Gripp syndrome | AGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTG... | AGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTG... |
Task1_train_22948 | Chromosome 16 houses a mutation in gene MAF (MAF bZIP transcription factor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ayme-Gripp syndrome | AGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTG... | AGTCATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTG... |
Task1_train_22949 | This gene mutation involves MAF (MAF bZIP transcription factor) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | CATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATT... | CATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATT... |
Task1_train_22950 | This variant lies on Chromosome 16 and affects the gene MAF (MAF bZIP transcription factor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ayme-Gripp syndrome | ATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTG... | ATGAGGCAATAAAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTG... |
Task1_train_22951 | Given a variant located on Chromosome 16 and affecting MAF (MAF bZIP transcription factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ayme-Gripp syndrome | AAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCA... | AAACAAAAGTATGAATGCCATGCTATAAGTCTTCGAACGTCCATTTCCAAGCCAAAAGGAAAAAAAAAGGAAAAAATAATTATACCATACATGTCCAGCATGCAGGCTTTTTTTTTTTATTAATATAATGTCTCTTTTCCATAAAGTCTTTGAAACAGTTATAGTTCATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCA... |
Task1_train_22952 | A variant was discovered on Chromosome 16, affecting GCSH (glycine cleavage system protein H). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Multiple mitochondrial dysfunctions syndrome 7 | AGTATTTCATCCCAAATCCAGGTATGGATACATGCAAGTTACAATATTATATAAGGCTTAAGAATAACAATGTTATCTTTGAATTATGTAATTTTTATAACTAGTTTTTACCATGGATAATTTCATGAATTCTGAACACTAGAGCCTAGTCTAAAAATCATAGGATATTGTGAAAAAGACGCATATTATATTTATCTATAATCATTAGAAAGTTAAAGGGCATTTTCTTTCATTAGCAGTGTTAACAGTAGTTTTTTTTTCCCCATCGGTAATACTAAAAGTTTCTATTCTAAGTCTTCTATCCACCACTAATTTAAGAC... | AGTATTTCATCCCAAATCCAGGTATGGATACATGCAAGTTACAATATTATATAAGGCTTAAGAATAACAATGTTATCTTTGAATTATGTAATTTTTATAACTAGTTTTTACCATGGATAATTTCATGAATTCTGAACACTAGAGCCTAGTCTAAAAATCATAGGATATTGTGAAAAAGACGCATATTATATTTATCTATAATCATTAGAAAGTTAAAGGGCATTTTCTTTCATTAGCAGTGTTAACAGTAGTTTTTTTTTCCCCATCGGTAATACTAAAAGTTTCTATTCTAAGTCTTCTATCCACCACTAATTTAAGAC... |
Task1_train_22953 | This variant lies on Chromosome 16 and affects the gene GCSH (glycine cleavage system protein H). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Multiple mitochondrial dysfunctions syndrome 7 | AGCTGGTCTTGAACTTTTGACCTCAGATAATCAACTTGCCTCGGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCGGCAAACACTGCTAGCTCTTCTGGGCATGAACATATTTGGTGTTCTTCCACCTCTGTAGTTTTATGTACACCATTGCCCCCAAAGCATTTGCTGAAATCCTGCTCACTGATTCTACAAATCATAGTCCTCACACCTTGTACTCCCTGAAGTCCCTGACTCCAGAAAGAAGTGGTCTCTCCATCAGGTAAGTGAATTACAACCCCACCGTTCCGATGCCATCATGTAATGTTTGC... | AGCTGGTCTTGAACTTTTGACCTCAGATAATCAACTTGCCTCGGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCGGCAAACACTGCTAGCTCTTCTGGGCATGAACATATTTGGTGTTCTTCCACCTCTGTAGTTTTATGTACACCATTGCCCCCAAAGCATTTGCTGAAATCCTGCTCACTGATTCTACAAATCATAGTCCTCACACCTTGTACTCCCTGAAGTCCCTGACTCCAGAAAGAAGTGGTCTCTCCATCAGGTAAGTGAATTACAACCCCACCGTTCCGATGCCATCATGTAATGTTTGC... |
Task1_train_22954 | A variant has been detected on Chromosome 16 in GAN, LOC130059498 (gigaxonin| ATAC-STARR-seq lymphoblastoid silent region 7753). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Giant axonal neuropathy 1 | GGCGGATCACAAGGTCAGGAGTTCGATACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAGATGCAAAAGTTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCACAACTGCACTCCAGCCTGGGCAATAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAGAAAATATTTTTCAACATCCACAAAAATATAGAAACAGTACAATGAATCTCCACATCCCCATTAAACATCCACAA... | GGCGGATCACAAGGTCAGGAGTTCGATACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAGATGCAAAAGTTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCACAACTGCACTCCAGCCTGGGCAATAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAGAAAATATTTTTCAACATCCACAAAAATATAGAAACAGTACAATGAATCTCCACATCCCCATTAAACATCCACAA... |
Task1_train_22955 | This mutation is located in gene GAN (gigaxonin) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Giant axonal neuropathy 1 | TGTAGTGAGCCATGATTGCGCCACTGCACTCCAGACTGGGTGACAGAGTGAGACCCTGTCTCAAAAACAAAAATAAAAGAAATTTTGTTAATATTATTTCCTGTTCTGTTTGTATTCAGTCTACCAAAAGTCTGATCCTTTGTTGACTTTATTGTAGAAGTCTGAATGCAAATAATGAGTTTAAATATTTGTTTCTAAGAAGTTCTCCCTGTAACTCACTATTTGGATTACAGTATTTGAAGGTGTGCTTTTCTTTTCTTAGAAAACATGGTTGTTAGGTAGCAGGTAACACAGTGTCAATCTTGAGATTTAACAGAGTT... | TGTAGTGAGCCATGATTGCGCCACTGCACTCCAGACTGGGTGACAGAGTGAGACCCTGTCTCAAAAACAAAAATAAAAGAAATTTTGTTAATATTATTTCCTGTTCTGTTTGTATTCAGTCTACCAAAAGTCTGATCCTTTGTTGACTTTATTGTAGAAGTCTGAATGCAAATAATGAGTTTAAATATTTGTTTCTAAGAAGTTCTCCCTGTAACTCACTATTTGGATTACAGTATTTGAAGGTGTGCTTTTCTTTTCTTAGAAAACATGGTTGTTAGGTAGCAGGTAACACAGTGTCAATCTTGAGATTTAACAGAGTT... |
Task1_train_22956 | This gene mutation involves GAN (gigaxonin) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Giant axonal neuropathy 1 | GGCTGTGTGAGAATGCATTTCATCTTTATTCTTTCTGAGATCTTGTTCCCTACTCTCTCCTTTATTCTTTCTTTATCCCTCTTGTTTTCCTTTCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGA... | GGCTGTGTGAGAATGCATTTCATCTTTATTCTTTCTGAGATCTTGTTCCCTACTCTCTCCTTTATTCTTTCTTTATCCCTCTTGTTTTCCTTTCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGA... |
Task1_train_22957 | Mutation context: Chromosome 16, Gene GAN (gigaxonin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Giant axonal neuropathy 1 | TCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTT... | TCTGTAGGGGCTGTTTGTCTTACATATTTTCTAAGTATTCTGAATGTATTGCTTTCTTTATCTAAATATATTCATTCTGTCCAGAGTTAAACGCAGTGATTCTCATCCTTTTTGAAGGTTTTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTT... |
Task1_train_22958 | This sequence variant lies in GAN (gigaxonin) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Giant axonal neuropathy 1 | GTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCA... | GTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCA... |
Task1_train_22959 | The gene GAN (gigaxonin), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Inborn genetic diseases | GTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCA... | GTTGGTTTTTCAGACCAGTCTGCAAAAGCCCATGCCACACAATATATCAGTGAAAATATTAGCCCTTGTAAGGAGCGTAATATCCTTTGTATGTTGTTTTTAATGGGAAAATGCATTTCAAGCTTAAGCTGGAGATTATAGAAACGCAGTATCCCCACCCTTGCTCTCAGCATCCTGACCTACTATATCACTAGGCTAACCTCTGCCAGGCCTCAGGTGCCTGCAGCAGGCAGGGGGGTGGCACGTGGATCGATGGCAGGGGTGGAGGGGCATGGGCCTGAGGAGCTTCAGGTGTGATTGACACCACGCAGGAGAAAGCA... |
Task1_train_22960 | Gene GAN (gigaxonin) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Giant axonal neuropathy 1 | ATGAACTCACCATGTATTTCTTAAGTTTGTTTTGAGAAGTGGCTTTGGCCTCTCTGGCTGTTGTGCTGGAAGAGTGGGCTGTTAGGGAAGCCAGAAATCTTTAAGAAGCATTACCGGAGAAATGGTTTTGAACGTGGTACTTCCATGCTGGAACACTGGGAAAAAAGATTTCTCTAATTTTTAAAAATAGTTTCAACTTTTATTTTAGACTCGGGGATACATGTGCAGGTTTGTTATGTGTGTATATTGCATAATGCTGAGGTTTGCAGTAAGATTAATCCAGTCTCCCAGGTACCAAGCGTCGTACCCAATAGTTAGTG... | ATGAACTCACCATGTATTTCTTAAGTTTGTTTTGAGAAGTGGCTTTGGCCTCTCTGGCTGTTGTGCTGGAAGAGTGGGCTGTTAGGGAAGCCAGAAATCTTTAAGAAGCATTACCGGAGAAATGGTTTTGAACGTGGTACTTCCATGCTGGAACACTGGGAAAAAAGATTTCTCTAATTTTTAAAAATAGTTTCAACTTTTATTTTAGACTCGGGGATACATGTGCAGGTTTGTTATGTGTGTATATTGCATAATGCTGAGGTTTGCAGTAAGATTAATCCAGTCTCCCAGGTACCAAGCGTCGTACCCAATAGTTAGTG... |
Task1_train_22961 | Here’s a variant in GAN (gigaxonin) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Giant axonal neuropathy 1 | CCTCCTTGACTCAAGCAATCCTCCCACCTCAGCCTGAGTAGCTGGGACAGATGCCACCACATTTGGCTAATTTTTGTATTTTTTGTAAAGACAAGGTTTCGCCATGTTGCCCAGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCACCTGCCTCAACCTCCCAAAGTATTGGGATTGCAGACTTGAGCCACCACACCTGGCCCCCAGTTTTAAAGTGAGCAAACCTTTAAACAGACATTTTATAAAAGAACATAAAATGGGGCTGGGTATGGTGGCTCACACCTGCAATCCCAGTACTTTAGGAGGCCAAGACAGAAGGA... | CCTCCTTGACTCAAGCAATCCTCCCACCTCAGCCTGAGTAGCTGGGACAGATGCCACCACATTTGGCTAATTTTTGTATTTTTTGTAAAGACAAGGTTTCGCCATGTTGCCCAGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCACCTGCCTCAACCTCCCAAAGTATTGGGATTGCAGACTTGAGCCACCACACCTGGCCCCCAGTTTTAAAGTGAGCAAACCTTTAAACAGACATTTTATAAAAGAACATAAAATGGGGCTGGGTATGGTGGCTCACACCTGCAATCCCAGTACTTTAGGAGGCCAAGACAGAAGGA... |
Task1_train_22962 | This mutation occurs in PLCG2 (phospholipase C gamma 2) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | CAGTCCCACCCACCAGGTGCAGGGGTCCCCTTTTCTCCACATCCCCACCAGCACTTCTCCTTTAGCTAATAGCCATTCTAACAGGTGTGAGGTGACATCTCATAGTGGTTTTAATTTGCATTTATCTGATGATTAGTGATGCTGAACATTTTTTACGTAACTGTTGGCCATTTATGTATCTTCCTTTGAGAAATGTCTATTCAGATCCTTTGTCCATTTTTTAAAATTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTC... | CAGTCCCACCCACCAGGTGCAGGGGTCCCCTTTTCTCCACATCCCCACCAGCACTTCTCCTTTAGCTAATAGCCATTCTAACAGGTGTGAGGTGACATCTCATAGTGGTTTTAATTTGCATTTATCTGATGATTAGTGATGCTGAACATTTTTTACGTAACTGTTGGCCATTTATGTATCTTCCTTTGAGAAATGTCTATTCAGATCCTTTGTCCATTTTTTAAAATTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTC... |
Task1_train_22963 | A variant has been detected on Chromosome 16 in LOC130059554, MLYCD (ATAC-STARR-seq lymphoblastoid silent region 7769| malonyl-CoA decarboxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Deficiency of malonyl-CoA decarboxylase | GGGTACCAAGCGGGGATGGTGCTAACCCATTTATGAGAACTCTGCCCCTATGATCCAATCATTTCTTACCAGGCGCCACCTCCAACACTGAGGATTACAACTAGACATGAGATTTGGTTGGACACAGATCCAAACCATATGAGCTATATTAACAATATTACATCTTCCAATCCATGAACCATGCATGGACCATTCCATTTGTTTAGGTCTTCTTTAATTTCCTTCAATACTGTTCTGTGGTTTTCCATCTACCAGTCTCACACTTCCTTGGTTAAACATGTTTCTTTTATCCCTTCAGATGTTGTTGTAAATAGAATTGT... | GGGTACCAAGCGGGGATGGTGCTAACCCATTTATGAGAACTCTGCCCCTATGATCCAATCATTTCTTACCAGGCGCCACCTCCAACACTGAGGATTACAACTAGACATGAGATTTGGTTGGACACAGATCCAAACCATATGAGCTATATTAACAATATTACATCTTCCAATCCATGAACCATGCATGGACCATTCCATTTGTTTAGGTCTTCTTTAATTTCCTTCAATACTGTTCTGTGGTTTTCCATCTACCAGTCTCACACTTCCTTGGTTAAACATGTTTCTTTTATCCCTTCAGATGTTGTTGTAAATAGAATTGT... |
Task1_train_22964 | This is a variant in SLC38A8 (solute carrier family 38 member 8), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING | CTGTTCAGAGGGCATGCCCGTAGCAGGCAAACCCAGAGACTGAGCGCAGCTGCATGGTTGCTGGGAGCTGAGGGAGGGAGAAATGGGGGGTAACTGCTAATGGGCACTAAGTTTCTTCTGAGCGTGACAAAAACGGACTAGAATTACTGGGGCAGCTGCACAGCTCTGTGAGCACACTAAAAACCACTGGATTGTACACTGTAAAGAAGTGAATCATTACGGTATACACCTTTTATCTCAATTTTGAAAATTCATGCATGTGGACAAGCTGAAATAAATATGGACCTGTCACCGCCAGCCTTGCACGGTCACGTGCATTG... | CTGTTCAGAGGGCATGCCCGTAGCAGGCAAACCCAGAGACTGAGCGCAGCTGCATGGTTGCTGGGAGCTGAGGGAGGGAGAAATGGGGGGTAACTGCTAATGGGCACTAAGTTTCTTCTGAGCGTGACAAAAACGGACTAGAATTACTGGGGCAGCTGCACAGCTCTGTGAGCACACTAAAAACCACTGGATTGTACACTGTAAAGAAGTGAATCATTACGGTATACACCTTTTATCTCAATTTTGAAAATTCATGCATGTGGACAAGCTGAAATAAATATGGACCTGTCACCGCCAGCCTTGCACGGTCACGTGCATTG... |
Task1_train_22965 | Given this variant in gene SLC38A8 (solute carrier family 38 member 8) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | CTTAGCAAAAGGCCACAGGGCCACAACCTTGGTTTCCTATACGCGCTGCACTCTATACGGCCAGGCTGAAAGAGTTCCAGATCTTGCTGCTTTGGTTCTCTTTTGATGATCAATTTCATCTTCAAGTCATTTTTTGCCTGTTCCAGCATAACGTGAGCAGCTAAGAGTAGCCATGCAGCATCCTGAATGCTCTGCTCCTTGGATATCTCTTCCGCCAGATACCCTAGTTCATCCTTTTTTGCCGGCAGGGGAGGGATGACAGAGTCTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAAC... | CTTAGCAAAAGGCCACAGGGCCACAACCTTGGTTTCCTATACGCGCTGCACTCTATACGGCCAGGCTGAAAGAGTTCCAGATCTTGCTGCTTTGGTTCTCTTTTGATGATCAATTTCATCTTCAAGTCATTTTTTGCCTGTTCCAGCATAACGTGAGCAGCTAAGAGTAGCCATGCAGCATCCTGAATGCTCTGCTCCTTGGATATCTCTTCCGCCAGATACCCTAGTTCATCCTTTTTTGCCGGCAGGGGAGGGATGACAGAGTCTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAAC... |
Task1_train_22966 | The gene SLC38A8 (solute carrier family 38 member 8) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | GGCCACAGGGCCACAACCTTGGTTTCCTATACGCGCTGCACTCTATACGGCCAGGCTGAAAGAGTTCCAGATCTTGCTGCTTTGGTTCTCTTTTGATGATCAATTTCATCTTCAAGTCATTTTTTGCCTGTTCCAGCATAACGTGAGCAGCTAAGAGTAGCCATGCAGCATCCTGAATGCTCTGCTCCTTGGATATCTCTTCCGCCAGATACCCTAGTTCATCCTTTTTTGCCGGCAGGGGAGGGATGACAGAGTCTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCCAGCTCC... | GGCCACAGGGCCACAACCTTGGTTTCCTATACGCGCTGCACTCTATACGGCCAGGCTGAAAGAGTTCCAGATCTTGCTGCTTTGGTTCTCTTTTGATGATCAATTTCATCTTCAAGTCATTTTTTGCCTGTTCCAGCATAACGTGAGCAGCTAAGAGTAGCCATGCAGCATCCTGAATGCTCTGCTCCTTGGATATCTCTTCCGCCAGATACCCTAGTTCATCCTTTTTTGCCGGCAGGGGAGGGATGACAGAGTCTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCCAGCTCC... |
Task1_train_22967 | A mutation found in SLC38A8 (solute carrier family 38 member 8) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | TCAAGGTGGTATGGCCCTAGACTGTTTTCATCAAATGGCACTAAACCGCCAACCCTAACGCGTCAGGCTTCCAACCTCTGCCCACTGACTTCACATTTAAACGCTCCCCATGCAGAAGCCTCACCAGCTAAGTGGAGGATAGCAGCCTCCCCCAAATCTTCCATCATTCACAGTGACATCACTCCAGCCCCAACTCCATCTCCCCGGTAGCCCTGGAGGCTAAAAGGAACAACTTGGGGTGGCGGGAGCGTGTCAAGAGCCAGGCTGGCTCCTCTGCTCTGCCATGAGTTTCCATTTATTCACCTCAGGGTTCCCTTCTC... | TCAAGGTGGTATGGCCCTAGACTGTTTTCATCAAATGGCACTAAACCGCCAACCCTAACGCGTCAGGCTTCCAACCTCTGCCCACTGACTTCACATTTAAACGCTCCCCATGCAGAAGCCTCACCAGCTAAGTGGAGGATAGCAGCCTCCCCCAAATCTTCCATCATTCACAGTGACATCACTCCAGCCCCAACTCCATCTCCCCGGTAGCCCTGGAGGCTAAAAGGAACAACTTGGGGTGGCGGGAGCGTGTCAAGAGCCAGGCTGGCTCCTCTGCTCTGCCATGAGTTTCCATTTATTCACCTCAGGGTTCCCTTCTC... |
Task1_train_22968 | A sequence alteration has been identified in MBTPS1 (membrane bound transcription factor peptidase, site 1) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Spondyloepiphyseal dysplasia, kondo-fu type | TGAGCCCAGGAGTTCCAGACTAGCCTGGGCTACACAGTAAGACCCCCATCTCCACAAAAAATACAAAAATTAGCCAGATGTAGTGGCACAAGCCTGTAGTCCCGGCTACTCAGGAGGATCACCTGAGCCCGGGAGGTCAAGGCTGCAGGGAGCCGTGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGTGAGATCCTGTCCCCCTCAGCCCCGCACCCGCCCCCCCCCCAAAAAAAAAGAGAAAAAAACAAAGAAATTCACTACAATACAGAAAATAAGCTTAAACGATAATGTAGAAAGTAAATTTTTAAAAATAT... | TGAGCCCAGGAGTTCCAGACTAGCCTGGGCTACACAGTAAGACCCCCATCTCCACAAAAAATACAAAAATTAGCCAGATGTAGTGGCACAAGCCTGTAGTCCCGGCTACTCAGGAGGATCACCTGAGCCCGGGAGGTCAAGGCTGCAGGGAGCCGTGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGTGAGATCCTGTCCCCCTCAGCCCCGCACCCGCCCCCCCCCCAAAAAAAAAGAGAAAAAAACAAAGAAATTCACTACAATACAGAAAATAAGCTTAAACGATAATGTAGAAAGTAAATTTTTAAAAATAT... |
Task1_train_22969 | Here is a genetic alteration in MBTPS1 (membrane bound transcription factor peptidase, site 1) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Spondyloepiphyseal dysplasia, kondo-fu type | TACACAGTAAGACCCCCATCTCCACAAAAAATACAAAAATTAGCCAGATGTAGTGGCACAAGCCTGTAGTCCCGGCTACTCAGGAGGATCACCTGAGCCCGGGAGGTCAAGGCTGCAGGGAGCCGTGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGTGAGATCCTGTCCCCCTCAGCCCCGCACCCGCCCCCCCCCCAAAAAAAAAGAGAAAAAAACAAAGAAATTCACTACAATACAGAAAATAAGCTTAAACGATAATGTAGAAAGTAAATTTTTAAAAATATATTTTATAACAACCAGAACAATGGCAAAGG... | TACACAGTAAGACCCCCATCTCCACAAAAAATACAAAAATTAGCCAGATGTAGTGGCACAAGCCTGTAGTCCCGGCTACTCAGGAGGATCACCTGAGCCCGGGAGGTCAAGGCTGCAGGGAGCCGTGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGTGAGATCCTGTCCCCCTCAGCCCCGCACCCGCCCCCCCCCCAAAAAAAAAGAGAAAAAAACAAAGAAATTCACTACAATACAGAAAATAAGCTTAAACGATAATGTAGAAAGTAAATTTTTAAAAATATATTTTATAACAACCAGAACAATGGCAAAGG... |
Task1_train_22970 | A variant found in Chromosome 16 affects DNAAF1 (dynein axonemal assembly factor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Primary ciliary dyskinesia 13 | TCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTAAGGAGTTCGAGACCAACCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGATGGCGGGTACCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACTCAGGAGGTGTAGGTTACAGTGAGCCGAGATTGTGCAATTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCATCTGAAAAAAAAAAAAAAGTGACTTAAGAGACATCCACTAATTACAAGGTTTGGACCTTATTTGTAT... | TCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTAAGGAGTTCGAGACCAACCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGATGGCGGGTACCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACTCAGGAGGTGTAGGTTACAGTGAGCCGAGATTGTGCAATTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCATCTGAAAAAAAAAAAAAAGTGACTTAAGAGACATCCACTAATTACAAGGTTTGGACCTTATTTGTAT... |
Task1_train_22971 | This alteration in COX4I1 (cytochrome c oxidase subunit 4I1) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 16 | CCCCTCCACCACACTCCTGCAACTGTTTAAACAGTGGCTGTGACCCCCTGAGATGATCCAGGGTTTCAAGGCGTGCACATGTCTGTGTTTCGGTTTTCAGAAGTATCACCTTGGGGTGACTCTCAACTTACATGGATTTTCAAAGATTTATTCAATATGTTTTTCAGAAAGTGTTGTGAAGAGCGAAGACTTTTCGCTCCCAGCTTATATGGATCGGCGTGACCACCCCTTGCCGGAGGTGGCCCATGTCAAGCACCTGTCTGCCAGCCAGAAGGCATTGAAGGAGAAGGAGAAGGCCTCCTGGAGCAGCCTCTCCATGG... | CCCCTCCACCACACTCCTGCAACTGTTTAAACAGTGGCTGTGACCCCCTGAGATGATCCAGGGTTTCAAGGCGTGCACATGTCTGTGTTTCGGTTTTCAGAAGTATCACCTTGGGGTGACTCTCAACTTACATGGATTTTCAAAGATTTATTCAATATGTTTTTCAGAAAGTGTTGTGAAGAGCGAAGACTTTTCGCTCCCAGCTTATATGGATCGGCGTGACCACCCCTTGCCGGAGGTGGCCCATGTCAAGCACCTGTCTGCCAGCCAGAAGGCATTGAAGGAGAAGGAGAAGGCCTCCTGGAGCAGCCTCTCCATGG... |
Task1_train_22972 | A change on Chromosome 16 affects gene IRF8 (interferon regulatory factor 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | TTCTTTAAAAATAAACAACAGCAACAAAACCCAAATTAATGCCCGGTCAGTGATGCAGTCAATGAAGAGAGCATTAAAGACCGTGTGCTTTAAGAAATAGTTTTAGAGGGGAGTTTTACATCAATGTCACATGAGGAAACTACCACTTATGCTCACTAATGGGAATGTTCTTCCAGTCTCTTTACCCCAGGTAGAGGTGCAACATTTTGCATCAACAAAGTAGGCAGCATTGGCCTTGAACAGTAAGCATTCTTGTCTTTTTTGAGAGGAAAAACAGTCTGGGCTATTTTAAAGGAGCTGTGACTCATGGGGGCATGATG... | TTCTTTAAAAATAAACAACAGCAACAAAACCCAAATTAATGCCCGGTCAGTGATGCAGTCAATGAAGAGAGCATTAAAGACCGTGTGCTTTAAGAAATAGTTTTAGAGGGGAGTTTTACATCAATGTCACATGAGGAAACTACCACTTATGCTCACTAATGGGAATGTTCTTCCAGTCTCTTTACCCCAGGTAGAGGTGCAACATTTTGCATCAACAAAGTAGGCAGCATTGGCCTTGAACAGTAAGCATTCTTGTCTTTTTTGAGAGGAAAAACAGTCTGGGCTATTTTAAAGGAGCTGTGACTCATGGGGGCATGATG... |
Task1_train_22973 | The variant affects gene IRF8, LOC130059663 (interferon regulatory factor 8| ATAC-STARR-seq lymphoblastoid active region 11295), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Immunodeficiency 32B | GTGCTTTAAGAAATAGTTTTAGAGGGGAGTTTTACATCAATGTCACATGAGGAAACTACCACTTATGCTCACTAATGGGAATGTTCTTCCAGTCTCTTTACCCCAGGTAGAGGTGCAACATTTTGCATCAACAAAGTAGGCAGCATTGGCCTTGAACAGTAAGCATTCTTGTCTTTTTTGAGAGGAAAAACAGTCTGGGCTATTTTAAAGGAGCTGTGACTCATGGGGGCATGATGGAGTTTCTGGAAGTGTGGTCTCCTGGGTAGCTAAATCCAAATCCCTGGAATACTGGCTAAAGACAGCTACCTGGGCCGGGCGCG... | GTGCTTTAAGAAATAGTTTTAGAGGGGAGTTTTACATCAATGTCACATGAGGAAACTACCACTTATGCTCACTAATGGGAATGTTCTTCCAGTCTCTTTACCCCAGGTAGAGGTGCAACATTTTGCATCAACAAAGTAGGCAGCATTGGCCTTGAACAGTAAGCATTCTTGTCTTTTTTGAGAGGAAAAACAGTCTGGGCTATTTTAAAGGAGCTGTGACTCATGGGGGCATGATGGAGTTTCTGGAAGTGTGGTCTCCTGGGTAGCTAAATCCAAATCCCTGGAATACTGGCTAAAGACAGCTACCTGGGCCGGGCGCG... |
Task1_train_22974 | A variant found in Chromosome 16 affects FOXF1 (forkhead box F1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment | CGCGCCGCGATGCGCCGGGGCTCCTGCGCTGTCCTGCGCTCCGCTCTCGGCACCACCTTTCGTGGCTCCACCGCCCCCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATT... | CGCGCCGCGATGCGCCGGGGCTCCTGCGCTGTCCTGCGCTCCGCTCTCGGCACCACCTTTCGTGGCTCCACCGCCCCCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATT... |
Task1_train_22975 | Consider this mutation in FOXF1 (forkhead box F1) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment | CGCGCCGCGATGCGCCGGGGCTCCTGCGCTGTCCTGCGCTCCGCTCTCGGCACCACCTTTCGTGGCTCCACCGCCCCCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATT... | CGCGCCGCGATGCGCCGGGGCTCCTGCGCTGTCCTGCGCTCCGCTCTCGGCACCACCTTTCGTGGCTCCACCGCCCCCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATT... |
Task1_train_22976 | Here is a mutation in FOXF1 (forkhead box F1) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment | CCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATC... | CCAGCCCGCACCCGAGCGCTGAGGTGGCAAGGGCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATC... |
Task1_train_22977 | A change on Chromosome 16 affects gene FOXF1 (forkhead box F1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment | GCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGG... | GCAGGTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGG... |
Task1_train_22978 | Consider this mutation in FOXF1 (forkhead box F1) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | GTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAA... | GTCTGCGTGCGAGCCCCCTGCGGGCTGGCAGCCAGGTGCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAA... |
Task1_train_22979 | A variant found in Chromosome 16 affects FOXF1 (forkhead box F1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment | GCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAG... | GCGCGAGGGCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAG... |
Task1_train_22980 | A variant on Chromosome 16 in gene FOXF1 (forkhead box F1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment | GCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTG... | GCCGCCCTTGCCGGCGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTG... |
Task1_train_22981 | The gene FOXF1 (forkhead box F1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Alveolar capillary dysplasia with pulmonary venous misalignment | CGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGT... | CGCTCCCAGCCCGCGCTGTCTGCTCTCAGGAACCTGGCCTGGCGCGCAGTGTCAGAGGCCCCGCGGCGGCGGCAGGCCGAGCCCACAGGGGCATTAGGCCAACTCCCCCCTCCCGCCCTGCGCACGCGGAATTCTCTATTATTATTATTAAAGAATCCCCCAGAACTTGTTTACGTTAAACCCTGTAAACTTCCTGCCAGGGCCTTTGCCATCTCTCGGGAAATCGGAACCTGCGCTTTGAAAACGGGGCCGCGGGGCCAAATAGGCGGGTTTTCAGTGTGTGTTGGGGGTGGGGGAGGGCAACTGAACTACGTGTGAGT... |
Task1_train_22982 | The gene FOXC2, FOXC2-AS1 (forkhead box C2| FOXC2 antisense RNA 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Distichiasis-lymphedema syndrome | GGGGTGTCTCACTCCTTCAGGGAAAGTGGGAAAAGGGGATCTGATTATTGAGGTGTGGAAGGAATAAATAATCAGTCCACAAATAAACAAACTGTCCGGGATTCCTAGAGGGAAGGAGAAATCCTTGAAGGAGATCCAAGTCGCTCCAGGTCTGCCTGCCGAATAATATCATCCCGAAGGGATCTTGAACCGTTTGCAATCAACCGCTCACCCAGTCTTCCCACGGAGCGCGCTCCCTAACTCACCCTACCCACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCC... | GGGGTGTCTCACTCCTTCAGGGAAAGTGGGAAAAGGGGATCTGATTATTGAGGTGTGGAAGGAATAAATAATCAGTCCACAAATAAACAAACTGTCCGGGATTCCTAGAGGGAAGGAGAAATCCTTGAAGGAGATCCAAGTCGCTCCAGGTCTGCCTGCCGAATAATATCATCCCGAAGGGATCTTGAACCGTTTGCAATCAACCGCTCACCCAGTCTTCCCACGGAGCGCGCTCCCTAACTCACCCTACCCACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCC... |
Task1_train_22983 | This mutation occurs in FOXC2, FOXC2-AS1 (forkhead box C2| FOXC2 antisense RNA 1) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Distichiasis-lymphedema syndrome | CTCACCCTACCCACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTT... | CTCACCCTACCCACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTT... |
Task1_train_22984 | A sequence alteration has been identified in FOXC2, FOXC2-AS1 (forkhead box C2| FOXC2 antisense RNA 1) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Distichiasis-lymphedema syndrome | ACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAAT... | ACCCAACAAAACAAAAAAAAGGCTGAAATATAGAAAAGCAACTTGGAGGCTCCCAGGGGGACGTTGCCAGGAGCAGGAGGCAGGGACAGCGCCCTAGGGTCGGTGTTAGCGGCCGGCGCCGGCCTGGGCCACGGGAAACGTCCACGCTTGGTGCCCGCGGTGCGCGGCGCTCATTGCGCGCGCCTTCGAGCCAAGCCCCCGCGGAAAACAGGCTCGGGTTTCTCCTCGCAGGGCCCAGGAACTCGGCTCTGCCTGGCCCGGGTGGGTCGCTGCATTGTCCCGGTCTTCTGGGAGTGCGGGGTCAGCTTGTTAGAGGGAAT... |
Task1_train_22985 | The gene FOXC2 (forkhead box C2) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Distichiasis-lymphedema syndrome | AGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTT... | AGATATTTTACTCTATTAATCCATTCTATTTTATATTTCAAATTGATTTTTTTTAACAGAGGAAAGTGGCTATCTTTTTGTTTTGGGCATGTGGGCCCATTCACCAAAATGTGATCATAAAATAAATTTTAATAAGATATAACTTTTTAAAAAGTTTTCAAGTGAAGACGGAGTCGCCGCGGAGGCCGGGGCGGCGGGGTCTTAGAGCCGACGGATTCCTGCGCTCCTCGCCCCGATTGGCGCCGACTCCTCTCAGCTGCCGGGTGATTGGCTCAAAGTTCCGGGAGGGGGCGTGGCCCGAGGAAAGTAAAAACTCGCTT... |
Task1_train_22986 | A variant was discovered in gene ZNF469 (zinc finger protein 469), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Keratoconus 1 | GGCTAGGAGCCAGCCCTCCCAGGAGGACCTCGCCTACACTGGCTGAGGCCTTGAGCGGGTTCCCCACCTCTCTGTGCCTGGATTCCTCACCCATAAATTCAGGGCGACAATCACAGATCACCTCTGAGCCACCGTGAGCACAAGGGAGGCAGTTCAGGAAAGTGCTCAGACGCCCAGCATCATTTATTCACTCAACAAACCTCACCTGTGAATCCTGGCCCCAAGGACTCCCAGGCCTTTGCCCCCTGGCAGTGGATCCCAGAAGAGGGAAAGGGGCCCTCCTCCCGGGGTCATGGGACAGGAGGTACCTCAGTGGTGGG... | GGCTAGGAGCCAGCCCTCCCAGGAGGACCTCGCCTACACTGGCTGAGGCCTTGAGCGGGTTCCCCACCTCTCTGTGCCTGGATTCCTCACCCATAAATTCAGGGCGACAATCACAGATCACCTCTGAGCCACCGTGAGCACAAGGGAGGCAGTTCAGGAAAGTGCTCAGACGCCCAGCATCATTTATTCACTCAACAAACCTCACCTGTGAATCCTGGCCCCAAGGACTCCCAGGCCTTTGCCCCCTGGCAGTGGATCCCAGAAGAGGGAAAGGGGCCCTCCTCCCGGGGTCATGGGACAGGAGGTACCTCAGTGGTGGG... |
Task1_train_22987 | This is a variant in ZNF469 (zinc finger protein 469), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Keratoconus 1 | AGAAGAGGGAAAGGGGCCCTCCTCCCGGGGTCATGGGACAGGAGGTACCTCAGTGGTGGGGGCAGAGGAGGAAGGGGCACCCGGGCCCCCCAGCTGGCATGACTCTTTTTGGTGGTGTGATGTGGAGTTTGCAGGCTGGGACCTCGCCCACCCTGGAGACCTTGGCCCAAATTGGGCAGGACCCTCCTCCCCGGTGCAGGCAGTCCCTGGGCACAGCAGGAAGAGCCAGCCGGAAGTACAGGTACCAACCTCGTGCTGGGGACAGAGGGCCTGCCAGCCTCTGCGTTAGGAGTCCCCAGGCGGCTGTAGTGCGGGAACTC... | AGAAGAGGGAAAGGGGCCCTCCTCCCGGGGTCATGGGACAGGAGGTACCTCAGTGGTGGGGGCAGAGGAGGAAGGGGCACCCGGGCCCCCCAGCTGGCATGACTCTTTTTGGTGGTGTGATGTGGAGTTTGCAGGCTGGGACCTCGCCCACCCTGGAGACCTTGGCCCAAATTGGGCAGGACCCTCCTCCCCGGTGCAGGCAGTCCCTGGGCACAGCAGGAAGAGCCAGCCGGAAGTACAGGTACCAACCTCGTGCTGGGGACAGAGGGCCTGCCAGCCTCTGCGTTAGGAGTCCCCAGGCGGCTGTAGTGCGGGAACTC... |
Task1_train_22988 | Here is a genetic alteration in ZNF469 (zinc finger protein 469) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Keratoconus 1 | CCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCT... | CCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATTCACCAATGGGCCACTGGTGTTTGCCTTCCATCAGCCCCAGGGAGCGTGGCCGGAGGAGGCCGTGGGCACGGGCCCTGCCT... |
Task1_train_22989 | This sequence variant lies in ZNF469 (zinc finger protein 469) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cardiovascular phenotype | CTGGGGACGCCCAGGCCGAGGGCAAAGACGACCCCCTGAGGACAGGCTTCCTGCCCAGCCTGGCCGCCACCCCCTTCCCGCTCCCTGCCTCGGACCTGGACATGGAGGATGACGCCAAGCTGGACAGCCTCATCACAGAGGCGCTCAACGGCATGGAGTACCAGTCGGACAACCCGGAGATCGACAGCAGCTTCATCGACGTCTTCGCGGACGAGGAGCCTTCCGGCCCCAGAGGTCCCAGCTCCGGACACCCCCTTAAGAGCAAGGCGGGGGTGACTCCAGAGAGCAAAGCTCCGCCCCCGCTCCCAGCAGCCACGCCG... | CTGGGGACGCCCAGGCCGAGGGCAAAGACGACCCCCTGAGGACAGGCTTCCTGCCCAGCCTGGCCGCCACCCCCTTCCCGCTCCCTGCCTCGGACCTGGACATGGAGGATGACGCCAAGCTGGACAGCCTCATCACAGAGGCGCTCAACGGCATGGAGTACCAGTCGGACAACCCGGAGATCGACAGCAGCTTCATCGACGTCTTCGCGGACGAGGAGCCTTCCGGCCCCAGAGGTCCCAGCTCCGGACACCCCCTTAAGAGCAAGGCGGGGGTGACTCCAGAGAGCAAAGCTCCGCCCCCGCTCCCAGCAGCCACGCCG... |
Task1_train_22990 | Here is a mutation in ZNF469 (zinc finger protein 469) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Keratoconus 1 | CTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGG... | CTCAGAGGAAACCCGCCCGTCGCTGGACTTTCCCCAGGAGGCCAAGGAGCCTGAAACTGCCGAAGAGTCAGCCCCGGACAGCACAGAATTCACAGAGGCTTTGCGTTCTCCTCCAGCCGCCTGTGCGGGAGAAATGGGAGCAAGCCCCGGTCTCCTGATACCAGAGCAGCCGCCGCCCAGCAGACATGACACCGGCACCCCCAAGCCGTCGGGAAGCCTCGCCAACACGGCGCCCCACGGAAGCTCGCCAACGCCAGGTGTGGGCAGCCTGCTGGGTGGTCCTGGGGGCACACAGGCCCCAGTCTCCCACAACAGCAAGG... |
Task1_train_22991 | A variant affecting Chromosome 16, within the gene LOC130059719, ZNF469 (ATAC-STARR-seq lymphoblastoid silent region 7848| zinc finger protein 469), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Brittle cornea syndrome 1 | GCCTGAGGCTGACGGGGAGCAGCCGCCTCGCTTGGCCACTCTGGGACCTGGGGTGATGGAGGGTGCAGCGGAGACTGACCAGGAGGCTCTGTGTGCAGGGGAGACTGGGGCCCAGAAGCCACCTGGAGATCGGATGCTGTGTCCAGGGAGGATGGATGGTGCAGCTCTGGGGGAACAGCCAACTGGGCAGAAGGGAGCCTCGGCAAGGGGGTTCTGGGGACCAAGAGAGACCAAGGCGTTGGGTGTGTGCAAAGAGTCTGGGAGCGAGCCTGCGGAGGACAGCAGCAGGGCCCACAGCCGATCAGAGGAAGGTGTCTGGG... | GCCTGAGGCTGACGGGGAGCAGCCGCCTCGCTTGGCCACTCTGGGACCTGGGGTGATGGAGGGTGCAGCGGAGACTGACCAGGAGGCTCTGTGTGCAGGGGAGACTGGGGCCCAGAAGCCACCTGGAGATCGGATGCTGTGTCCAGGGAGGATGGATGGTGCAGCTCTGGGGGAACAGCCAACTGGGCAGAAGGGAGCCTCGGCAAGGGGGTTCTGGGGACCAAGAGAGACCAAGGCGTTGGGTGTGTGCAAAGAGTCTGGGAGCGAGCCTGCGGAGGACAGCAGCAGGGCCCACAGCCGATCAGAGGAAGGTGTCTGGG... |
Task1_train_22992 | Located on Chromosome 16, this mutation impacts ZNF469 (zinc finger protein 469). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not specified | CCTGGAGGGCAGCAGCGCTGTCGCCCACCTTCTGAACAGCATCACGGAACCCGCGCCCAAACACCACAGGGGCAAGCGCTCCGCCGGCAAGGCCGCCGGGAGCCCGGGAGACCCGTGGGGGCAAGAGGGAGAAGCCAAGAAAGACAGCCCGGGCGAGAGGGCGAAACCCCGGGCACGCAGCACCCCCAGCAACCCAGACGGGGCCGCGACCCCAGACAGCGCCTCTGCCACCGCCCTGGCTGACGCCGGCAGCCCGGGCCCCCCCAGGACGACCCCCAGCCCGTCCCCCGACCCCTGGGCCGGCGGGGAGCCCCTCCTGC... | CCTGGAGGGCAGCAGCGCTGTCGCCCACCTTCTGAACAGCATCACGGAACCCGCGCCCAAACACCACAGGGGCAAGCGCTCCGCCGGCAAGGCCGCCGGGAGCCCGGGAGACCCGTGGGGGCAAGAGGGAGAAGCCAAGAAAGACAGCCCGGGCGAGAGGGCGAAACCCCGGGCACGCAGCACCCCCAGCAACCCAGACGGGGCCGCGACCCCAGACAGCGCCTCTGCCACCGCCCTGGCTGACGCCGGCAGCCCGGGCCCCCCCAGGACGACCCCCAGCCCGTCCCCCGACCCCTGGGCCGGCGGGGAGCCCCTCCTGC... |
Task1_train_22993 | The gene CYBA (cytochrome b-245 alpha chain) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | CAGGTTGGTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCATATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCC... | CAGGTTGGTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCATATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCC... |
Task1_train_22994 | This genomic variant is located on Chromosome 16, within the CYBA (cytochrome b-245 alpha chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | ATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT... | ATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT... |
Task1_train_22995 | The gene CYBA (cytochrome b-245 alpha chain) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not specified | TACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCAC... | TACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCAC... |
Task1_train_22996 | The gene CYBA (cytochrome b-245 alpha chain) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGT... | TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGT... |
Task1_train_22997 | This variant lies on Chromosome 16 and affects the gene CYBA (cytochrome b-245 alpha chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | GCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGG... | GCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCTGCGGGCAGGAGG... |
Task1_train_22998 | This gene mutation involves MVD (mevalonate diphosphate decarboxylase) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Porokeratosis 7, multiple types | CTGGCTTCCTGCCTGAGACACGGTAGGGACAGGGAGCCGCGCTTAGCCTTTAAGGGCCCTGGGGGCTGGGCGGGCCCCCCTGGCAGGAAAGGAAACCCCGGGGTACTGGGTGAGCCCCAGGCCTCACCTGAGTGACAATGATGTATTTGACCCCACCGGGGGTCGGCTCCATGGCCAGCGCAGCCTGAAGCTCAGCTGAGAGAGGGGCCGGCCTCACCTGCAGCCCCTTCAGAAACCTGGAAAAGCAGGGCAGGGGCACGGTGAATGCATCCGTTTCTCTAAGCGTCTACAACAGTCTACAACAGGCAAGTCCAGAGATG... | CTGGCTTCCTGCCTGAGACACGGTAGGGACAGGGAGCCGCGCTTAGCCTTTAAGGGCCCTGGGGGCTGGGCGGGCCCCCCTGGCAGGAAAGGAAACCCCGGGGTACTGGGTGAGCCCCAGGCCTCACCTGAGTGACAATGATGTATTTGACCCCACCGGGGGTCGGCTCCATGGCCAGCGCAGCCTGAAGCTCAGCTGAGAGAGGGGCCGGCCTCACCTGCAGCCCCTTCAGAAACCTGGAAAAGCAGGGCAGGGGCACGGTGAATGCATCCGTTTCTCTAAGCGTCTACAACAGTCTACAACAGGCAAGTCCAGAGATG... |
Task1_train_22999 | The gene MVD (mevalonate diphosphate decarboxylase), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Porokeratosis 7, multiple types | GAGTGACAATGATGTATTTGACCCCACCGGGGGTCGGCTCCATGGCCAGCGCAGCCTGAAGCTCAGCTGAGAGAGGGGCCGGCCTCACCTGCAGCCCCTTCAGAAACCTGGAAAAGCAGGGCAGGGGCACGGTGAATGCATCCGTTTCTCTAAGCGTCTACAACAGTCTACAACAGGCAAGTCCAGAGATGGGAAGTGCATTCCTGGCCGTCAGGGCTCAGGGAGGGGGAGACGGCAGGTGGCTGCTGTGGGGACAGGTTTCTTTTAGGGGTGATGAAAAAGTTAAGGAGGTGGCTTGAGGTGGTGCTCACATGACCCTG... | GAGTGACAATGATGTATTTGACCCCACCGGGGGTCGGCTCCATGGCCAGCGCAGCCTGAAGCTCAGCTGAGAGAGGGGCCGGCCTCACCTGCAGCCCCTTCAGAAACCTGGAAAAGCAGGGCAGGGGCACGGTGAATGCATCCGTTTCTCTAAGCGTCTACAACAGTCTACAACAGGCAAGTCCAGAGATGGGAAGTGCATTCCTGGCCGTCAGGGCTCAGGGAGGGGGAGACGGCAGGTGGCTGCTGTGGGGACAGGTTTCTTTTAGGGGTGATGAAAAAGTTAAGGAGGTGGCTTGAGGTGGTGCTCACATGACCCTG... |
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