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_22500 | This mutation is located in gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inborn genetic diseases | GTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTAC... | GTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTAC... |
Task1_train_22501 | This variant lies on Chromosome 16 and affects the gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neuronal ceroid lipofuscinosis | GTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTAC... | GTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTAC... |
Task1_train_22502 | A change on Chromosome 16 affects gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neuronal ceroid lipofuscinosis 3 | CAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCTCTAGC... | CAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCTCTAGC... |
Task1_train_22503 | Gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neuronal ceroid lipofuscinosis | CAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCTCTAGC... | CAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCTCTAGC... |
Task1_train_22504 | The gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neuronal ceroid lipofuscinosis | CAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCTCTAGC... | CAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCTCTAGC... |
Task1_train_22505 | Given this context: Chromosome 16, gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Neuronal ceroid lipofuscinosis 3 | CAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCTCTAGC... | CAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCTCTAGC... |
Task1_train_22506 | Here’s a variant in CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ceroid lipofuscinosis, neuronal, 3, protracted | CAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCTCTAGCTCCCATTAATTATACGTTCACTCTGTGCTAGGCCAGAACTTCCTCGATTTTAGTCACTTAGGTTCTGGCTTCATGTTATTTGCCATATCCATATTCCTCCTGTATATATATATTTTTACTTAATATTTTTCTTTAAATGGACTCACTTTTTCTACTTA... | CAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCTCTAGCTCCCATTAATTATACGTTCACTCTGTGCTAGGCCAGAACTTCCTCGATTTTAGTCACTTAGGTTCTGGCTTCATGTTATTTGCCATATCCATATTCCTCCTGTATATATATATTTTTACTTAATATTTTTCTTTAAATGGACTCACTTTTTCTACTTA... |
Task1_train_22507 | Consider a variant on Chromosome 16 in gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin). Determine its clinical classification and disease relevance. | Pathogenic; Neuronal ceroid lipofuscinosis | ACTGCACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCACAAAAATAAAAAATAAAAAGGAAGAGGCCGAGTGCAGTGGCTCACACCTGTAATTCCAGCACTTTGAGGGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGAGCAATATGGAGAAACCCCGTCTCTACTAAAAAATACAAAATTAGCTGGGCGAAGTTGCACATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAACCACTTGAACCCGAAAGGCGGAGGTTGCAGTAAGCCGAGATTGTGCCATTGCACTCCAGCC... | ACTGCACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCACAAAAATAAAAAATAAAAAGGAAGAGGCCGAGTGCAGTGGCTCACACCTGTAATTCCAGCACTTTGAGGGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGAGCAATATGGAGAAACCCCGTCTCTACTAAAAAATACAAAATTAGCTGGGCGAAGTTGCACATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAACCACTTGAACCCGAAAGGCGGAGGTTGCAGTAAGCCGAGATTGTGCCATTGCACTCCAGCC... |
Task1_train_22508 | A change on Chromosome 16 affects gene TUFM (Tu translation elongation factor, mitochondrial). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Combined oxidative phosphorylation defect type 4 | CATTTGATATTCTTCTCCTCCTCAGTCATGGCCAGCGTGTTGGTGACTAGACCGGTGCCAATAGTCCGGTTGCCATCTCGCAGGGTGAAACGCTGGCCTTTCTCTAAGATCATTGGCTGCCGCAAGATTAGGTTGAACTTCAGGTCCTCCCCGGGCATGGCAAGCTCCTAGAGTAGGAAGAGAAGGATCATGCGTGGCCTCCAGGGTGCCTTCATTCCTTAAGTCTTTTTTGGCTACCTCGGAGGTTAAGAGTCATGGGAGAATGCAGCAGGGGAATGGTTCTGCCTGGGGACAGCTTCATCCATCCCAGGCTGTCAGGC... | CATTTGATATTCTTCTCCTCCTCAGTCATGGCCAGCGTGTTGGTGACTAGACCGGTGCCAATAGTCCGGTTGCCATCTCGCAGGGTGAAACGCTGGCCTTTCTCTAAGATCATTGGCTGCCGCAAGATTAGGTTGAACTTCAGGTCCTCCCCGGGCATGGCAAGCTCCTAGAGTAGGAAGAGAAGGATCATGCGTGGCCTCCAGGGTGCCTTCATTCCTTAAGTCTTTTTTGGCTACCTCGGAGGTTAAGAGTCATGGGAGAATGCAGCAGGGGAATGGTTCTGCCTGGGGACAGCTTCATCCATCCCAGGCTGTCAGGC... |
Task1_train_22509 | A genetic alteration is present in ATP2A1, ATP2A1-AS1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1| ATP2A1 antisense RNA 1) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Brody myopathy | AGTGCAGCGCAGACCACAGGCCTCTGGGGCTGGCCACAGAAACCCCGTTGGTTAGAGCACAGTGTGGGATGAGGTGACCCTCAGTGCACGACTTGGGGTGACCCCTGCCCCCATCCTGAGACAGTTACCCCTCCCCCTCTGCCATCAGCACATTCTGTAGCCTCTTGGGTTACTTGGCTGCCTTGGTGTCCCATTTTCTTGGGGGTGGGGTGGGGATTCCCTATCCAGGATGGGGGGGCCCTCAGGGCTCTGTTCCCAGAGGCTGAGTTAGAGCGATGGGGAAGGGGGGGGGCAGTTTTGGGGAGAGACAGGCAGTGCTG... | AGTGCAGCGCAGACCACAGGCCTCTGGGGCTGGCCACAGAAACCCCGTTGGTTAGAGCACAGTGTGGGATGAGGTGACCCTCAGTGCACGACTTGGGGTGACCCCTGCCCCCATCCTGAGACAGTTACCCCTCCCCCTCTGCCATCAGCACATTCTGTAGCCTCTTGGGTTACTTGGCTGCCTTGGTGTCCCATTTTCTTGGGGGTGGGGTGGGGATTCCCTATCCAGGATGGGGGGGCCCTCAGGGCTCTGTTCCCAGAGGCTGAGTTAGAGCGATGGGGAAGGGGGGGGGCAGTTTTGGGGAGAGACAGGCAGTGCTG... |
Task1_train_22510 | The following genetic variant occurs in ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Brody myopathy | TTCCCTGCTTCAGCCTCCAGAGTAGCTGGGATTACAGACGTCCACCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTACCGTCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCACTGCACCTGACCTGCTTGACGTTTCCATTCTGTCCCAAGCCTGAAACGGGACGGGTAGTGGGAGAAGGCTGGATGTTGTTGCCTACTCTCTAGATAGCCACCAGCCCACCCCTTCCACATGGACATAGGGCCACAG... | TTCCCTGCTTCAGCCTCCAGAGTAGCTGGGATTACAGACGTCCACCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTACCGTCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCACTGCACCTGACCTGCTTGACGTTTCCATTCTGTCCCAAGCCTGAAACGGGACGGGTAGTGGGAGAAGGCTGGATGTTGTTGCCTACTCTCTAGATAGCCACCAGCCCACCCCTTCCACATGGACATAGGGCCACAG... |
Task1_train_22511 | Here is a genetic alteration in ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Brody myopathy | AGTCCCAGCTACTTGGGAGGGTGAGGTAGGAGGATCGCTTGAGCCTGGTAGATTGAGGCTGCAGTGAGCTATGATCGCACCGTTGTACCACTGCACTCCAGCCTGGGTGACAGAGCAATACCCTGTCTCAAAAAAAAAAAGATACGATCTGACCCATGATGGGCCTGGCACCATCAGCACCTGCAGGTGCTTAGATGAATGAGATGTTTCCTGCCTCTGAGCTTCCAAGGCCCCACTGAGGTCTGACACCAGGCCCTGAGGCGGCAAGCCCAGGGTTCAGGCTTCCCACCCCTCCCCACCACTTCCTGACCTTTCACCCC... | AGTCCCAGCTACTTGGGAGGGTGAGGTAGGAGGATCGCTTGAGCCTGGTAGATTGAGGCTGCAGTGAGCTATGATCGCACCGTTGTACCACTGCACTCCAGCCTGGGTGACAGAGCAATACCCTGTCTCAAAAAAAAAAAGATACGATCTGACCCATGATGGGCCTGGCACCATCAGCACCTGCAGGTGCTTAGATGAATGAGATGTTTCCTGCCTCTGAGCTTCCAAGGCCCCACTGAGGTCTGACACCAGGCCCTGAGGCGGCAAGCCCAGGGTTCAGGCTTCCCACCCCTCCCCACCACTTCCTGACCTTTCACCCC... |
Task1_train_22512 | This variant affects gene CD19 (CD19 molecule) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Immunodeficiency, common variable, 3 | GCTGCAAGTGCAAGGGCCCTGAGGCAGGGAAGCACTTGGCAAGGAGAGTGGTGGAGGCACGAGGTGGAAAATGTAGGTAGGTCAGCAACACTCGGCCTACTAGGCCTTGGGTTGGAGTTTTTATTTTAGCTAGATGAAAAGCAACTGACATTTTTTGTTTTTTAAAAAATTTCTATAGAGATGGGTTCTCGCTGTGTTGCACAGGCTGGTCTCAAATTCCTGTCCTCAAAGGATCCTCTCGCCTCGGCCTCCTAAAGTATTGGGATTACAGGCATGAGCCTCTGTGCCTGGCTGTAACTGACATGTTTTAAGCAGGGGAA... | GCTGCAAGTGCAAGGGCCCTGAGGCAGGGAAGCACTTGGCAAGGAGAGTGGTGGAGGCACGAGGTGGAAAATGTAGGTAGGTCAGCAACACTCGGCCTACTAGGCCTTGGGTTGGAGTTTTTATTTTAGCTAGATGAAAAGCAACTGACATTTTTTGTTTTTTAAAAAATTTCTATAGAGATGGGTTCTCGCTGTGTTGCACAGGCTGGTCTCAAATTCCTGTCCTCAAAGGATCCTCTCGCCTCGGCCTCCTAAAGTATTGGGATTACAGGCATGAGCCTCTGTGCCTGGCTGTAACTGACATGTTTTAAGCAGGGGAA... |
Task1_train_22513 | With a mutation on Chromosome 16 in gene KIF22 (kinesin family member 22), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Spondyloepimetaphyseal dysplasia with multiple dislocations | AAATGCAAAATCTCGGGCATCACCCCAGGGAGACGGAGACCAAATCCACATTTTCACAAGATCCTCCAGGTTATTTGTGTATACATTACAGTCTGAGAAGCCTGCTATACACCTGCTGCACTTGCTTGTAGAGCAGGGAAGGCACTGAGGCCAAGCTTAGGGGTGTCCACAACATGACCAGGGCAGAATGAGCTTCTCCAACATGAGCTGTGGCCCCCAGCCCGCCCAGCAAAGTTGGTCCCTGCTTCTTCTGCTACCACCATACTTCATGTCTAAAAGTGATCTTCTCTCCTCCAGGAGCTGGTCGCTGTCGGCTAAGC... | AAATGCAAAATCTCGGGCATCACCCCAGGGAGACGGAGACCAAATCCACATTTTCACAAGATCCTCCAGGTTATTTGTGTATACATTACAGTCTGAGAAGCCTGCTATACACCTGCTGCACTTGCTTGTAGAGCAGGGAAGGCACTGAGGCCAAGCTTAGGGGTGTCCACAACATGACCAGGGCAGAATGAGCTTCTCCAACATGAGCTGTGGCCCCCAGCCCGCCCAGCAAAGTTGGTCCCTGCTTCTTCTGCTACCACCATACTTCATGTCTAAAAGTGATCTTCTCTCCTCCAGGAGCTGGTCGCTGTCGGCTAAGC... |
Task1_train_22514 | A variant on Chromosome 16 in gene KIF22 (kinesin family member 22) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | AAATGCAAAATCTCGGGCATCACCCCAGGGAGACGGAGACCAAATCCACATTTTCACAAGATCCTCCAGGTTATTTGTGTATACATTACAGTCTGAGAAGCCTGCTATACACCTGCTGCACTTGCTTGTAGAGCAGGGAAGGCACTGAGGCCAAGCTTAGGGGTGTCCACAACATGACCAGGGCAGAATGAGCTTCTCCAACATGAGCTGTGGCCCCCAGCCCGCCCAGCAAAGTTGGTCCCTGCTTCTTCTGCTACCACCATACTTCATGTCTAAAAGTGATCTTCTCTCCTCCAGGAGCTGGTCGCTGTCGGCTAAGC... | AAATGCAAAATCTCGGGCATCACCCCAGGGAGACGGAGACCAAATCCACATTTTCACAAGATCCTCCAGGTTATTTGTGTATACATTACAGTCTGAGAAGCCTGCTATACACCTGCTGCACTTGCTTGTAGAGCAGGGAAGGCACTGAGGCCAAGCTTAGGGGTGTCCACAACATGACCAGGGCAGAATGAGCTTCTCCAACATGAGCTGTGGCCCCCAGCCCGCCCAGCAAAGTTGGTCCCTGCTTCTTCTGCTACCACCATACTTCATGTCTAAAAGTGATCTTCTCTCCTCCAGGAGCTGGTCGCTGTCGGCTAAGC... |
Task1_train_22515 | This variant lies on Chromosome 16 and affects the gene KIF22 (kinesin family member 22). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; See cases | AAATGCAAAATCTCGGGCATCACCCCAGGGAGACGGAGACCAAATCCACATTTTCACAAGATCCTCCAGGTTATTTGTGTATACATTACAGTCTGAGAAGCCTGCTATACACCTGCTGCACTTGCTTGTAGAGCAGGGAAGGCACTGAGGCCAAGCTTAGGGGTGTCCACAACATGACCAGGGCAGAATGAGCTTCTCCAACATGAGCTGTGGCCCCCAGCCCGCCCAGCAAAGTTGGTCCCTGCTTCTTCTGCTACCACCATACTTCATGTCTAAAAGTGATCTTCTCTCCTCCAGGAGCTGGTCGCTGTCGGCTAAGC... | AAATGCAAAATCTCGGGCATCACCCCAGGGAGACGGAGACCAAATCCACATTTTCACAAGATCCTCCAGGTTATTTGTGTATACATTACAGTCTGAGAAGCCTGCTATACACCTGCTGCACTTGCTTGTAGAGCAGGGAAGGCACTGAGGCCAAGCTTAGGGGTGTCCACAACATGACCAGGGCAGAATGAGCTTCTCCAACATGAGCTGTGGCCCCCAGCCCGCCCAGCAAAGTTGGTCCCTGCTTCTTCTGCTACCACCATACTTCATGTCTAAAAGTGATCTTCTCTCCTCCAGGAGCTGGTCGCTGTCGGCTAAGC... |
Task1_train_22516 | This alteration occurs within gene MVP-DT, PRRT2 (MVP divergent transcript| proline rich transmembrane protein 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Seizures, benign familial infantile, 2 | CACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTCCAGGAATCCCGGTGACCGTTGGCGGGAGGGGCCGGGGACTTAAGAAGGAGGCGTCTCTCCTGGAGGCGCGCGTGAGAAGGGGCAGGGAGGGGGCGCGAGTGGTCCCCGGGCCGGTTGCCTGGGTAACGCGTGGCTCCCTTGGGCTGGCGGGAGGGGCCGGAGGCTCGCGAGGGGCGGGGGCGGCGACGGCGGCGGAGCGTAGGGGAGGGGACCGGAGAGGAGGGGATGAGCACACGGGAGAGGA... | CACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTCCAGGAATCCCGGTGACCGTTGGCGGGAGGGGCCGGGGACTTAAGAAGGAGGCGTCTCTCCTGGAGGCGCGCGTGAGAAGGGGCAGGGAGGGGGCGCGAGTGGTCCCCGGGCCGGTTGCCTGGGTAACGCGTGGCTCCCTTGGGCTGGCGGGAGGGGCCGGAGGCTCGCGAGGGGCGGGGGCGGCGACGGCGGCGGAGCGTAGGGGAGGGGACCGGAGAGGAGGGGATGAGCACACGGGAGAGGA... |
Task1_train_22517 | The gene MVP-DT, PRRT2 (MVP divergent transcript| proline rich transmembrane protein 2), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Episodic kinesigenic dyskinesia | GGAGTGGACCGACCGACGGCTGACGCCGGGCGGACTGCACGGGAATGCGGGTGTCTGGAGGGCTGGTGGTGGTGCTGGGCGGGCTGAACCATCGGGAGGAGGCGCCAGCCCACCGAAGGCGAGGGAAGCCCCGGGAGAGGGGCTGACAGGGGATCGAAGGAGATAACCAGGTCCCCCAGAAAGGGGCGGGAGCGTCCTCGCCCTAAACGCGCAGCAAGAAAACCCGCACCGCCTGGGAGCCCAGGGAGGAGGGGAGGATGCAGAGGGAGTGGAATGCGAATGTCGGGTCCTCTGCCCAGTCGGCCTGTCGGAGTGCTATT... | GGAGTGGACCGACCGACGGCTGACGCCGGGCGGACTGCACGGGAATGCGGGTGTCTGGAGGGCTGGTGGTGGTGCTGGGCGGGCTGAACCATCGGGAGGAGGCGCCAGCCCACCGAAGGCGAGGGAAGCCCCGGGAGAGGGGCTGACAGGGGATCGAAGGAGATAACCAGGTCCCCCAGAAAGGGGCGGGAGCGTCCTCGCCCTAAACGCGCAGCAAGAAAACCCGCACCGCCTGGGAGCCCAGGGAGGAGGGGAGGATGCAGAGGGAGTGGAATGCGAATGTCGGGTCCTCTGCCCAGTCGGCCTGTCGGAGTGCTATT... |
Task1_train_22518 | Gene MVP-DT, PRRT2 (MVP divergent transcript| proline rich transmembrane protein 2), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TGACGCCGGGCGGACTGCACGGGAATGCGGGTGTCTGGAGGGCTGGTGGTGGTGCTGGGCGGGCTGAACCATCGGGAGGAGGCGCCAGCCCACCGAAGGCGAGGGAAGCCCCGGGAGAGGGGCTGACAGGGGATCGAAGGAGATAACCAGGTCCCCCAGAAAGGGGCGGGAGCGTCCTCGCCCTAAACGCGCAGCAAGAAAACCCGCACCGCCTGGGAGCCCAGGGAGGAGGGGAGGATGCAGAGGGAGTGGAATGCGAATGTCGGGTCCTCTGCCCAGTCGGCCTGTCGGAGTGCTATTTGCACAGCTCGTTGATTTTG... | TGACGCCGGGCGGACTGCACGGGAATGCGGGTGTCTGGAGGGCTGGTGGTGGTGCTGGGCGGGCTGAACCATCGGGAGGAGGCGCCAGCCCACCGAAGGCGAGGGAAGCCCCGGGAGAGGGGCTGACAGGGGATCGAAGGAGATAACCAGGTCCCCCAGAAAGGGGCGGGAGCGTCCTCGCCCTAAACGCGCAGCAAGAAAACCCGCACCGCCTGGGAGCCCAGGGAGGAGGGGAGGATGCAGAGGGAGTGGAATGCGAATGTCGGGTCCTCTGCCCAGTCGGCCTGTCGGAGTGCTATTTGCACAGCTCGTTGATTTTG... |
Task1_train_22519 | Located on Chromosome 16, this mutation impacts MVP-DT, PRRT2 (MVP divergent transcript| proline rich transmembrane protein 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Episodic kinesigenic dyskinesia | GACGCCGGGCGGACTGCACGGGAATGCGGGTGTCTGGAGGGCTGGTGGTGGTGCTGGGCGGGCTGAACCATCGGGAGGAGGCGCCAGCCCACCGAAGGCGAGGGAAGCCCCGGGAGAGGGGCTGACAGGGGATCGAAGGAGATAACCAGGTCCCCCAGAAAGGGGCGGGAGCGTCCTCGCCCTAAACGCGCAGCAAGAAAACCCGCACCGCCTGGGAGCCCAGGGAGGAGGGGAGGATGCAGAGGGAGTGGAATGCGAATGTCGGGTCCTCTGCCCAGTCGGCCTGTCGGAGTGCTATTTGCACAGCTCGTTGATTTTGG... | GACGCCGGGCGGACTGCACGGGAATGCGGGTGTCTGGAGGGCTGGTGGTGGTGCTGGGCGGGCTGAACCATCGGGAGGAGGCGCCAGCCCACCGAAGGCGAGGGAAGCCCCGGGAGAGGGGCTGACAGGGGATCGAAGGAGATAACCAGGTCCCCCAGAAAGGGGCGGGAGCGTCCTCGCCCTAAACGCGCAGCAAGAAAACCCGCACCGCCTGGGAGCCCAGGGAGGAGGGGAGGATGCAGAGGGAGTGGAATGCGAATGTCGGGTCCTCTGCCCAGTCGGCCTGTCGGAGTGCTATTTGCACAGCTCGTTGATTTTGG... |
Task1_train_22520 | An alteration has been detected in TLCD3B (TLC domain containing 3B) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cone-rod dystrophy 22 | CCAAGGAAGGGACATGGGCGGTGTGGCTCCACAGCCCTCACTGTCATCCCCACCATCCCCAGAAGATCCGAGAGGCATCAGAGACAGACCCTGTTGGCAAGTGAGAGGTCTTGTCAGCGCTGTTCGCCCTGCCCCAAAGTCACCCAATCTCTTGTCTATTTTGTGTTGTTTTTCAGGGACAGCCAAGCGTTAAGGGGAAAATGCAGAGCAAAAGGAGCCAAGGACAAAGAAAGTTCCATGTACTTGGAGAGTAAACAAAAACGAGAAATGGATGAATAGACAAGACAGCATTTTTCTTCTGGAGTCAGCACATTGGCAGT... | CCAAGGAAGGGACATGGGCGGTGTGGCTCCACAGCCCTCACTGTCATCCCCACCATCCCCAGAAGATCCGAGAGGCATCAGAGACAGACCCTGTTGGCAAGTGAGAGGTCTTGTCAGCGCTGTTCGCCCTGCCCCAAAGTCACCCAATCTCTTGTCTATTTTGTGTTGTTTTTCAGGGACAGCCAAGCGTTAAGGGGAAAATGCAGAGCAAAAGGAGCCAAGGACAAAGAAAGTTCCATGTACTTGGAGAGTAAACAAAAACGAGAAATGGATGAATAGACAAGACAGCATTTTTCTTCTGGAGTCAGCACATTGGCAGT... |
Task1_train_22521 | Given a variant located on Chromosome 16 and affecting ALDOA, LOC112694756 (aldolase, fructose-bisphosphate A| uncharaterized LOC112694756), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; HNSHA due to aldolase A deficiency | AAGCACAGACCTTTCCCATATCTGGGCCCTTTCCCACGAGGGTGTTGGGCCCTCTGCTTGATTCACGATCTTTACATTCTAAAATACTCCGGTTCGGTTTTGTTTTCAGGCAAGGTGACCCCATGGCAAGGCGCAAGCCAGAAGGGTCCAGCTTCAACATGACCCACCTGTCCATGGCTATGGCCTTTTCCTTTCCCCCAGTTGCCAGTGGGCAACTCCACCCTCAGCTGGGCAACACCCAGCACCAGACAGAGTTAGGAAAGGTACAGGGGCAGGCCTAGCAAAGGGAAGTTGGGCGTAAGAGAGAGCTGGGGACCAGA... | AAGCACAGACCTTTCCCATATCTGGGCCCTTTCCCACGAGGGTGTTGGGCCCTCTGCTTGATTCACGATCTTTACATTCTAAAATACTCCGGTTCGGTTTTGTTTTCAGGCAAGGTGACCCCATGGCAAGGCGCAAGCCAGAAGGGTCCAGCTTCAACATGACCCACCTGTCCATGGCTATGGCCTTTTCCTTTCCCCCAGTTGCCAGTGGGCAACTCCACCCTCAGCTGGGCAACACCCAGCACCAGACAGAGTTAGGAAAGGTACAGGGGCAGGCCTAGCAAAGGGAAGTTGGGCGTAAGAGAGAGCTGGGGACCAGA... |
Task1_train_22522 | This alteration in ALDOA, LOC112694756 (aldolase, fructose-bisphosphate A| uncharaterized LOC112694756) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; HNSHA due to aldolase A deficiency | AAGGGCATCCTGGCTGCAGATGAGTCCACTGGTGCGGGCAGGAGACAGAATGGGTGGAGGGTGCAGGGTTGGGAGTGGCAGGCTGATCCCCTAATTCCCATGTGACACTCCCAGGGAGCATTGCCAAGCGGCTGCAGTCCATTGGCACCGAGAACACCGAGGAGAACCGGCGCTTCTACCGCCAGCTGCTGCTGACAGCTGACGACCGCGTGAACCCCTGCATTGGGGGTGTCATCCTCTTCCATGAGACACTCTACCAGAAGGCGGATGATGGGCGTCCCTTCCCCCAAGTTATCAAATCCAAGGGCGGTGTTGTGGGC... | AAGGGCATCCTGGCTGCAGATGAGTCCACTGGTGCGGGCAGGAGACAGAATGGGTGGAGGGTGCAGGGTTGGGAGTGGCAGGCTGATCCCCTAATTCCCATGTGACACTCCCAGGGAGCATTGCCAAGCGGCTGCAGTCCATTGGCACCGAGAACACCGAGGAGAACCGGCGCTTCTACCGCCAGCTGCTGCTGACAGCTGACGACCGCGTGAACCCCTGCATTGGGGGTGTCATCCTCTTCCATGAGACACTCTACCAGAAGGCGGATGATGGGCGTCCCTTCCCCCAAGTTATCAAATCCAAGGGCGGTGTTGTGGGC... |
Task1_train_22523 | Here is a variant affecting TBX6 (T-box transcription factor 6) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Scoliosis | CTCCTTCCCAGTGGCAAGGCCAGGGCACAGTCTCACCTAGCTCATCTTTCTGCCCCATCTCCACTCTCAGCCTCTCTCTGGAATCCTCTTCTGTCCCCTCTTCACGGGCTGAACCTGTCCTTTTTCTTTTCATTTTTAAAATTTGAGATGGGGTCTTGCTATGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCACAGGTCACAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCTTTCCATCTCAGCCTCCGAAAGTGCTGGGACTACAGGCATGAGCCACCAAACCTATCCTTGCCTCACTGCAAGCGCAAGT... | CTCCTTCCCAGTGGCAAGGCCAGGGCACAGTCTCACCTAGCTCATCTTTCTGCCCCATCTCCACTCTCAGCCTCTCTCTGGAATCCTCTTCTGTCCCCTCTTCACGGGCTGAACCTGTCCTTTTTCTTTTCATTTTTAAAATTTGAGATGGGGTCTTGCTATGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCACAGGTCACAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCTTTCCATCTCAGCCTCCGAAAGTGCTGGGACTACAGGCATGAGCCACCAAACCTATCCTTGCCTCACTGCAAGCGCAAGT... |
Task1_train_22524 | Given this context: Chromosome 16, gene CORO1A (coronin 1A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Severe combined immunodeficiency due to CORO1A deficiency | GGGCTGATGACGCCTGAGTCTGAACCATTAGGAAGGACGGGCTCTGCATCCATCAGCCAGTCAGTCAACAAACATGCAGTGGGGCAACACCACGCCAGGCTCTGTTGCAGAGGCTGAGGGTACAGATTGAGAGGGTGGCTCAGAGTGGCCTGGGGCCAGGGAGAAGGGGGCTTGCAGGTTAGAGGGAAGGAGAGGCTGGGGAAGGCAAGCAGGCATCAGCCACAGAGGGAAGAATAGGGAGCCCCTGGAGATGATGCTGGGACCTTAAAAGCCAGACTGAGGGGTGTCCTGGGGGAGGTGGGGACCACTGGAAGATCAGA... | GGGCTGATGACGCCTGAGTCTGAACCATTAGGAAGGACGGGCTCTGCATCCATCAGCCAGTCAGTCAACAAACATGCAGTGGGGCAACACCACGCCAGGCTCTGTTGCAGAGGCTGAGGGTACAGATTGAGAGGGTGGCTCAGAGTGGCCTGGGGCCAGGGAGAAGGGGGCTTGCAGGTTAGAGGGAAGGAGAGGCTGGGGAAGGCAAGCAGGCATCAGCCACAGAGGGAAGAATAGGGAGCCCCTGGAGATGATGCTGGGACCTTAAAAGCCAGACTGAGGGGTGTCCTGGGGGAGGTGGGGACCACTGGAAGATCAGA... |
Task1_train_22525 | Here is a variant affecting PHKG2 (phosphorylase kinase catalytic subunit gamma 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Glycogen storage disease IXc | ATATTGGCCACGCTGGTCTTGAACTCCTGATCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGTTGACTGAATAGTTCTAAATGGGAAGAATCAGTGATCAGTGGAGAACACCTAGTGACTAGACTCTTACCTTGGGTCAACCCCATTTTTTCACGGATTCATTCATTTATGCCTTCAACACAAAGCTCAACACGGGGAGGGCAGAAAAGATGCGTATGCCCTGGAGGTACTCCACCCGAAGTGACTGAAATTGGCACGTGAACGTTAAAAAGGCATCAGGCTAGAT... | ATATTGGCCACGCTGGTCTTGAACTCCTGATCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGTTGACTGAATAGTTCTAAATGGGAAGAATCAGTGATCAGTGGAGAACACCTAGTGACTAGACTCTTACCTTGGGTCAACCCCATTTTTTCACGGATTCATTCATTTATGCCTTCAACACAAAGCTCAACACGGGGAGGGCAGAAAAGATGCGTATGCCCTGGAGGTACTCCACCCGAAGTGACTGAAATTGGCACGTGAACGTTAAAAAGGCATCAGGCTAGAT... |
Task1_train_22526 | Given a variant located on Chromosome 16 and affecting PHKG2 (phosphorylase kinase catalytic subunit gamma 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Glycogen storage disease IXc | TCATTCCACTAAAGAGTGGCCATCCGTTGGGCGCCCACTGCCTCCTCTGGTTCTCCTTTCTTCCCAGTAACAGCCCGCTGCTGTCCCAGGGTGGCCAAGCCCCGTTAATGTGCATCCACTCCTTTCCATCTCTGTCTCTCTGCCTCTCTTCCTCTCTCCCTAGTCACCCTCATCGATTCCTACGAGTCTTCTAGCTTCATGTTCCTGGTGTTTGACCTGTGAGTATCTCCCTGCCACCATCTGAGAAGCCTCCTCCCCACCTCCATGTATGGCCCAGCATTTGTGGTGCAGTGGGCTGGACCCATCCTGCTCACACCTTC... | TCATTCCACTAAAGAGTGGCCATCCGTTGGGCGCCCACTGCCTCCTCTGGTTCTCCTTTCTTCCCAGTAACAGCCCGCTGCTGTCCCAGGGTGGCCAAGCCCCGTTAATGTGCATCCACTCCTTTCCATCTCTGTCTCTCTGCCTCTCTTCCTCTCTCCCTAGTCACCCTCATCGATTCCTACGAGTCTTCTAGCTTCATGTTCCTGGTGTTTGACCTGTGAGTATCTCCCTGCCACCATCTGAGAAGCCTCCTCCCCACCTCCATGTATGGCCCAGCATTTGTGGTGCAGTGGGCTGGACCCATCCTGCTCACACCTTC... |
Task1_train_22527 | Given this variant in gene PHKG2 (phosphorylase kinase catalytic subunit gamma 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glycogen storage disease IXc | AGGCACCAGTCTTTTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGGATGCAGTGGCATGATCTTCACTCACCGAAATCTCCACCTCCTGGGTTCAAGCTATTCTTCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCACCACTACGCCTGGCTCATTTTTGTATTTTTAGTAGAGATGGAATTTCACAATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCTGTCCCAGCCTCCAGAAGTGCTGGGATTACAGGTGTGAGCACTGTGCCTTG... | AGGCACCAGTCTTTTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGGATGCAGTGGCATGATCTTCACTCACCGAAATCTCCACCTCCTGGGTTCAAGCTATTCTTCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCACCACTACGCCTGGCTCATTTTTGTATTTTTAGTAGAGATGGAATTTCACAATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCTGTCCCAGCCTCCAGAAGTGCTGGGATTACAGGTGTGAGCACTGTGCCTTG... |
Task1_train_22528 | This variant lies on Chromosome 16 and affects the gene PHKG2 (phosphorylase kinase catalytic subunit gamma 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glycogen storage disease IXc | TAGAGATGGAATTTCACAATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCTGTCCCAGCCTCCAGAAGTGCTGGGATTACAGGTGTGAGCACTGTGCCTTGTCGGCACCAGTCTTTATATGGCTTATTCCCCTAAATCCTCTCCACAGCCCTGTGTGACAGACAGTATTTGTGTCTCTTTTTTTATAGATTGGCTCAAAGAGGTGAGATGACTGCTCTAGGGTCCTAATGCTAGGATTTGAACTTGGACAGTCTGACTCCAGAGTTAATACTCTTAACCTGTGGACCCACATGTCTGGTGGATGTT... | TAGAGATGGAATTTCACAATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCTGTCCCAGCCTCCAGAAGTGCTGGGATTACAGGTGTGAGCACTGTGCCTTGTCGGCACCAGTCTTTATATGGCTTATTCCCCTAAATCCTCTCCACAGCCCTGTGTGACAGACAGTATTTGTGTCTCTTTTTTTATAGATTGGCTCAAAGAGGTGAGATGACTGCTCTAGGGTCCTAATGCTAGGATTTGAACTTGGACAGTCTGACTCCAGAGTTAATACTCTTAACCTGTGGACCCACATGTCTGGTGGATGTT... |
Task1_train_22529 | This variant affects the gene SETD1A (SET domain containing 1A, histone lysine methyltransferase) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Epilepsy, early-onset, with or without developmental delay | GCGCCACTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCCTGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTACTGGTATTACAGGCATGAGCCACCATGCCTGGCCTCTTTTTAATCTTTCTATATGCTATTCTATAACCCATATAGGTTTTGGTGCCAGATTCTCAGAAATACTGGATTTTCTGGGTTTTTAGGTTTGGAAATTTGAGATAGAGAGTAAAGGAGCTGTGAACACAAGCGAGGTGGTCTGGGCTTCTGTGTTGAGTGATGGGG... | GCGCCACTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCCTGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTACTGGTATTACAGGCATGAGCCACCATGCCTGGCCTCTTTTTAATCTTTCTATATGCTATTCTATAACCCATATAGGTTTTGGTGCCAGATTCTCAGAAATACTGGATTTTCTGGGTTTTTAGGTTTGGAAATTTGAGATAGAGAGTAAAGGAGCTGTGAACACAAGCGAGGTGGTCTGGGCTTCTGTGTTGAGTGATGGGG... |
Task1_train_22530 | Given a variant located on Chromosome 16 and affecting SETD1A (SET domain containing 1A, histone lysine methyltransferase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Epilepsy, early-onset, with or without developmental delay | GGGGAAGCCAGTTGTGAAGCCAGTGAGTCCGTGGGCTGCAGTTCAGAGCATGAGCTCAACCCACATGGCCTGGGAGCAGAGCTTGTTCTGTCATCTGGTAACTGACCACATCTCTGTGCCTCAGTTTTCCTGTCTGTAAGATAGGACCCTCTGCTGGGTACAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGCTTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCT... | GGGGAAGCCAGTTGTGAAGCCAGTGAGTCCGTGGGCTGCAGTTCAGAGCATGAGCTCAACCCACATGGCCTGGGAGCAGAGCTTGTTCTGTCATCTGGTAACTGACCACATCTCTGTGCCTCAGTTTTCCTGTCTGTAAGATAGGACCCTCTGCTGGGTACAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGCTTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCT... |
Task1_train_22531 | This variant lies on Chromosome 16 and affects the gene SETD1A (SET domain containing 1A, histone lysine methyltransferase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TGGGAGCAGAGCTTGTTCTGTCATCTGGTAACTGACCACATCTCTGTGCCTCAGTTTTCCTGTCTGTAAGATAGGACCCTCTGCTGGGTACAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGCTTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTAAGCCGAGATTGCGC... | TGGGAGCAGAGCTTGTTCTGTCATCTGGTAACTGACCACATCTCTGTGCCTCAGTTTTCCTGTCTGTAAGATAGGACCCTCTGCTGGGTACAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGCTTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTAAGCCGAGATTGCGC... |
Task1_train_22532 | A variant was discovered on Chromosome 16, affecting SETD1A (SET domain containing 1A, histone lysine methyltransferase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neurodevelopmental disorder with speech impairment and dysmorphic facies | CTCCACTCCAGCCCTGCTTCTCTAGCAGCGCTGTCTCCTGCCCCTCCCTGCAGGGCATGTTCAAATTCTGTAGGGGATGGGGAGGAAGGCAAGTTTCATAAAATATTTTAATACAAAGATGCCACTTTTTAGGTTGTATCGTGTTCACCTTGCTAAACTGAGAATATTGTTTATGATGGAGATAATGGATATTTTAGCTGAAATGTGGCTGACTGGGTCCTTGGCATGTGACATGGCTGGGGCCTGGGCACAGGGCTGTCCCGCCAGTCTGGGTAGGAAAGTGGAGTCCAGGGCGAGTGGTGCCGCCCTTCTCAGCGTGG... | CTCCACTCCAGCCCTGCTTCTCTAGCAGCGCTGTCTCCTGCCCCTCCCTGCAGGGCATGTTCAAATTCTGTAGGGGATGGGGAGGAAGGCAAGTTTCATAAAATATTTTAATACAAAGATGCCACTTTTTAGGTTGTATCGTGTTCACCTTGCTAAACTGAGAATATTGTTTATGATGGAGATAATGGATATTTTAGCTGAAATGTGGCTGACTGGGTCCTTGGCATGTGACATGGCTGGGGCCTGGGCACAGGGCTGTCCCGCCAGTCTGGGTAGGAAAGTGGAGTCCAGGGCGAGTGGTGCCGCCCTTCTCAGCGTGG... |
Task1_train_22533 | This variant impacts the gene HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital bile acid synthesis defect 1 | GGCGGGGTGGGTCCCTTTTGCTGGGCTGGACTGTACATATGTTAATAGCGCAAACCCGACGCCACATTTTTATAATTGTGATTAAACTTTATTGTACAAAAGTGTTTGGTCGGTGTATTTGGGCAGGAGCGAGGGGTTGGGGGTAGAGGGCACGGAGGGTTGTGCAAGTTGAAGAGAGGGAAAAGTGGGTACCTGAAGTGTGGGGCAGGTAAAGGGGCCTTCAGGCAAGAGCCCAGACCTGCAGAGACAGTCCGAGACTGTCTCGGACCCCCTGACAGGCTGCAGCAGCCGCACCCGCACCAGGAATACCCCACCAGTGC... | GGCGGGGTGGGTCCCTTTTGCTGGGCTGGACTGTACATATGTTAATAGCGCAAACCCGACGCCACATTTTTATAATTGTGATTAAACTTTATTGTACAAAAGTGTTTGGTCGGTGTATTTGGGCAGGAGCGAGGGGTTGGGGGTAGAGGGCACGGAGGGTTGTGCAAGTTGAAGAGAGGGAAAAGTGGGTACCTGAAGTGTGGGGCAGGTAAAGGGGCCTTCAGGCAAGAGCCCAGACCTGCAGAGACAGTCCGAGACTGTCTCGGACCCCCTGACAGGCTGCAGCAGCCGCACCCGCACCAGGAATACCCCACCAGTGC... |
Task1_train_22534 | Here is a genetic alteration in STX1B (syntaxin 1B) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Generalized epilepsy with febrile seizures plus, type 9 | TGCCAGCGTGCATGGTTTGTGCCTGGTATGGCCCCTGCCTGGGGCCACCTCGGCCTTGCCACGTGTGAGCACACTGAGGGGTACCAGCTTCCAGGGGCTCGGGGCTATGCTGGGCAGAGACATGGAGGAAGATGAGGATCTAGGTGTGAGCATGCAGAGCCCTGAGGCTGGGCAGGCAGGGAGCTCTGCCTGCACAATGATGTAGCCGTGTGTGGCCACACCAGCACTGGGCAGCACCTCTGGGGAGGGGGGCAGGGCAAGGACAACTGGAGAGACAAAGCCAGATGGGGCCACGTCCTTAGAAGTGTGTGTGCACGCAC... | TGCCAGCGTGCATGGTTTGTGCCTGGTATGGCCCCTGCCTGGGGCCACCTCGGCCTTGCCACGTGTGAGCACACTGAGGGGTACCAGCTTCCAGGGGCTCGGGGCTATGCTGGGCAGAGACATGGAGGAAGATGAGGATCTAGGTGTGAGCATGCAGAGCCCTGAGGCTGGGCAGGCAGGGAGCTCTGCCTGCACAATGATGTAGCCGTGTGTGGCCACACCAGCACTGGGCAGCACCTCTGGGGAGGGGGGCAGGGCAAGGACAACTGGAGAGACAAAGCCAGATGGGGCCACGTCCTTAGAAGTGTGTGTGCACGCAC... |
Task1_train_22535 | A variant was discovered on Chromosome 16, affecting STX1B (syntaxin 1B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Generalized epilepsy with febrile seizures plus, type 9 | GGATCTAGGTGTGAGCATGCAGAGCCCTGAGGCTGGGCAGGCAGGGAGCTCTGCCTGCACAATGATGTAGCCGTGTGTGGCCACACCAGCACTGGGCAGCACCTCTGGGGAGGGGGGCAGGGCAAGGACAACTGGAGAGACAAAGCCAGATGGGGCCACGTCCTTAGAAGTGTGTGTGCACGCACGTGTGTGTGTGTGTGTGTAATACGCAGGGCAGAAACACACCATGTAGGTCAGGCAGGACAGAAACACATCATGTAGGCCAGGCGTGGTGGCTCAGGCCTGTAATGCCAGCACTTAGGGAGGCCAAAGTGGGCGGA... | GGATCTAGGTGTGAGCATGCAGAGCCCTGAGGCTGGGCAGGCAGGGAGCTCTGCCTGCACAATGATGTAGCCGTGTGTGGCCACACCAGCACTGGGCAGCACCTCTGGGGAGGGGGGCAGGGCAAGGACAACTGGAGAGACAAAGCCAGATGGGGCCACGTCCTTAGAAGTGTGTGTGCACGCACGTGTGTGTGTGTGTGTGTAATACGCAGGGCAGAAACACACCATGTAGGTCAGGCAGGACAGAAACACATCATGTAGGCCAGGCGTGGTGGCTCAGGCCTGTAATGCCAGCACTTAGGGAGGCCAAAGTGGGCGGA... |
Task1_train_22536 | This sequence variant lies in VKORC1 (vitamin K epoxide reductase complex subunit 1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary combined deficiency of vitamin K-dependent clotting factors | ACAGTGTGTGCCAGGCTGAGTGGTGAGGAGCCAGCACCCACTGCTGCTTGCTCGCTGTGAGCCTTTGGCAAATCCCAGTATCTCCCTGGGCCTGCTGGCTTCCTGGGAAACAGGGTGACAGCGGTGCCCACCTTCCTCATAGGCGCAGAGGACTCGGTCAGGCGGGAAGAACACTTTGGCGCGTGCCTCCTCTTCCTCTTCCCACTCCTAACTCAGGCTGGCCCAGACCATTCAAGAACCCTGACCCCAAGACAGAGGCAGCTGTGGGTAAGGTTTAGCATATATTATAGATGCTGGCCGGGCATGGTGGCTCACGCCTG... | ACAGTGTGTGCCAGGCTGAGTGGTGAGGAGCCAGCACCCACTGCTGCTTGCTCGCTGTGAGCCTTTGGCAAATCCCAGTATCTCCCTGGGCCTGCTGGCTTCCTGGGAAACAGGGTGACAGCGGTGCCCACCTTCCTCATAGGCGCAGAGGACTCGGTCAGGCGGGAAGAACACTTTGGCGCGTGCCTCCTCTTCCTCTTCCCACTCCTAACTCAGGCTGGCCCAGACCATTCAAGAACCCTGACCCCAAGACAGAGGCAGCTGTGGGTAAGGTTTAGCATATATTATAGATGCTGGCCGGGCATGGTGGCTCACGCCTG... |
Task1_train_22537 | This alteration occurs within gene VKORC1 (vitamin K epoxide reductase complex subunit 1) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Warfarin response | GAGCTGGGAAGGGTGACTCAAAGGGAGCGTGGGAGCCTGCTGGGAAGGGTGGTAATGGATAGTCTCATCTCCGGCATATGGCATCAGCAAGGCCTGGGGCGCCATCGTCTTCCACTCCCTTGGTTCCTCTCTCTGTTCTTATGGGACTAGATACAAATTTTCCTGCTGAGCACTAAATGAGACAAAAGATAGCTCATGCTCAGCTTCTCCTTAAAAAGGAATTTCGGCATCTTTTCCACAAAACTGGGGTGTTGGTGGGGCATGGTAGCTCACGCCTGTAATCCCCCCAGCACTTTGGGAGGCTGAGGCAGACAGATTGC... | GAGCTGGGAAGGGTGACTCAAAGGGAGCGTGGGAGCCTGCTGGGAAGGGTGGTAATGGATAGTCTCATCTCCGGCATATGGCATCAGCAAGGCCTGGGGCGCCATCGTCTTCCACTCCCTTGGTTCCTCTCTCTGTTCTTATGGGACTAGATACAAATTTTCCTGCTGAGCACTAAATGAGACAAAAGATAGCTCATGCTCAGCTTCTCCTTAAAAAGGAATTTCGGCATCTTTTCCACAAAACTGGGGTGTTGGTGGGGCATGGTAGCTCACGCCTGTAATCCCCCCAGCACTTTGGGAGGCTGAGGCAGACAGATTGC... |
Task1_train_22538 | This genomic variant is located on Chromosome 16, within the VKORC1 (vitamin K epoxide reductase complex subunit 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Warfarin response | GCTGGGAAGGGTGGTAATGGATAGTCTCATCTCCGGCATATGGCATCAGCAAGGCCTGGGGCGCCATCGTCTTCCACTCCCTTGGTTCCTCTCTCTGTTCTTATGGGACTAGATACAAATTTTCCTGCTGAGCACTAAATGAGACAAAAGATAGCTCATGCTCAGCTTCTCCTTAAAAAGGAATTTCGGCATCTTTTCCACAAAACTGGGGTGTTGGTGGGGCATGGTAGCTCACGCCTGTAATCCCCCCAGCACTTTGGGAGGCTGAGGCAGACAGATTGCTTGAGACCAGCCTGGGCAACATGGCGAGACACCATCTC... | GCTGGGAAGGGTGGTAATGGATAGTCTCATCTCCGGCATATGGCATCAGCAAGGCCTGGGGCGCCATCGTCTTCCACTCCCTTGGTTCCTCTCTCTGTTCTTATGGGACTAGATACAAATTTTCCTGCTGAGCACTAAATGAGACAAAAGATAGCTCATGCTCAGCTTCTCCTTAAAAAGGAATTTCGGCATCTTTTCCACAAAACTGGGGTGTTGGTGGGGCATGGTAGCTCACGCCTGTAATCCCCCCAGCACTTTGGGAGGCTGAGGCAGACAGATTGCTTGAGACCAGCCTGGGCAACATGGCGAGACACCATCTC... |
Task1_train_22539 | Chromosome 16 houses a mutation in gene VKORC1 (vitamin K epoxide reductase complex subunit 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Warfarin response | CAAGGCCTGGGGCGCCATCGTCTTCCACTCCCTTGGTTCCTCTCTCTGTTCTTATGGGACTAGATACAAATTTTCCTGCTGAGCACTAAATGAGACAAAAGATAGCTCATGCTCAGCTTCTCCTTAAAAAGGAATTTCGGCATCTTTTCCACAAAACTGGGGTGTTGGTGGGGCATGGTAGCTCACGCCTGTAATCCCCCCAGCACTTTGGGAGGCTGAGGCAGACAGATTGCTTGAGACCAGCCTGGGCAACATGGCGAGACACCATCTCTACCAAAAAAAAACAAAAACAAAAATTAGCTGGGCATAGTGGTGCACGC... | CAAGGCCTGGGGCGCCATCGTCTTCCACTCCCTTGGTTCCTCTCTCTGTTCTTATGGGACTAGATACAAATTTTCCTGCTGAGCACTAAATGAGACAAAAGATAGCTCATGCTCAGCTTCTCCTTAAAAAGGAATTTCGGCATCTTTTCCACAAAACTGGGGTGTTGGTGGGGCATGGTAGCTCACGCCTGTAATCCCCCCAGCACTTTGGGAGGCTGAGGCAGACAGATTGCTTGAGACCAGCCTGGGCAACATGGCGAGACACCATCTCTACCAAAAAAAAACAAAAACAAAAATTAGCTGGGCATAGTGGTGCACGC... |
Task1_train_22540 | An alteration has been detected in BCKDK (branched chain keto acid dehydrogenase kinase) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Branched-chain keto acid dehydrogenase kinase deficiency | AGGGGCCCAGGGCTGGTGTCGCACGTTCGCTGGCCGCGCTCCCAGGGCCCGGGTTTGAAGGCGCTGGGCAGGCAGGGGCAGCCCCGCCCCCTGAGAAGGGTACCCGGGACCCCGGGGCGCTGGGGCGAGGTTTTCGGGCTGGAAGGGTCTGAGGGGCTCCTCCCCCGACAGCCCTCCCACCGCCAGTAGAGCCTCGGGTTGGGGAATAGAAGCCCCCGGGAGGCTAGGTCCTTTGGGCGCGGCCTGTGTGCATCTGGGGAGACGGTGGGAGTGGTGGGGAGAGGTCGCCCGGGTCTGGGGAGACCGATGCACAGGTGGAG... | AGGGGCCCAGGGCTGGTGTCGCACGTTCGCTGGCCGCGCTCCCAGGGCCCGGGTTTGAAGGCGCTGGGCAGGCAGGGGCAGCCCCGCCCCCTGAGAAGGGTACCCGGGACCCCGGGGCGCTGGGGCGAGGTTTTCGGGCTGGAAGGGTCTGAGGGGCTCCTCCCCCGACAGCCCTCCCACCGCCAGTAGAGCCTCGGGTTGGGGAATAGAAGCCCCCGGGAGGCTAGGTCCTTTGGGCGCGGCCTGTGTGCATCTGGGGAGACGGTGGGAGTGGTGGGGAGAGGTCGCCCGGGTCTGGGGAGACCGATGCACAGGTGGAG... |
Task1_train_22541 | This variant affects the gene KAT8 (lysine acetyltransferase 8) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Li-Ghorbani-Weisz-Hubshman syndrome | TCCTCACCCTCTCTTGTCTCTGCGTCTTCTTTTTCCATTTGTCCCTGGCAGCCATCCGCAGAGAGAAGACCTTCCAGAAACAACAGGCTTCCCTTTCCTAAAGTTCTGCTGCCTTCTCTCATTTTCAAAATTAACCCCAAACTCCTTAGGGTGGCATTCATTTTTGTGACCTCTCCAGTTTCTAGCCAACACTAGGAAAGGGCATTGCCAGGCCAGAACACACTGTGCCCTCTGAAGACCACACGCCCTTTACCACCTGTGCCCTTTGCTTGGAATGCTTTTTCTTCCCTTTCTCCTTGTTTGCCTGCCTAGCTCCTACT... | TCCTCACCCTCTCTTGTCTCTGCGTCTTCTTTTTCCATTTGTCCCTGGCAGCCATCCGCAGAGAGAAGACCTTCCAGAAACAACAGGCTTCCCTTTCCTAAAGTTCTGCTGCCTTCTCTCATTTTCAAAATTAACCCCAAACTCCTTAGGGTGGCATTCATTTTTGTGACCTCTCCAGTTTCTAGCCAACACTAGGAAAGGGCATTGCCAGGCCAGAACACACTGTGCCCTCTGAAGACCACACGCCCTTTACCACCTGTGCCCTTTGCTTGGAATGCTTTTTCTTCCCTTTCTCCTTGTTTGCCTGCCTAGCTCCTACT... |
Task1_train_22542 | Given a variant located on Chromosome 16 and affecting KAT8 (lysine acetyltransferase 8), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Li-Ghorbani-Weisz-Hubshman syndrome | CCTAAAGTTCTGCTGCCTTCTCTCATTTTCAAAATTAACCCCAAACTCCTTAGGGTGGCATTCATTTTTGTGACCTCTCCAGTTTCTAGCCAACACTAGGAAAGGGCATTGCCAGGCCAGAACACACTGTGCCCTCTGAAGACCACACGCCCTTTACCACCTGTGCCCTTTGCTTGGAATGCTTTTTCTTCCCTTTCTCCTTGTTTGCCTGCCTAGCTCCTACTCATCCTCTTAGCTTCATATCCTTTGTGATGTCATCCTTGATTCCCCTTCAGGCAAAGTGAGTGGTTCCCTTCTCTATGTTCCTGCAACATTTTTTT... | CCTAAAGTTCTGCTGCCTTCTCTCATTTTCAAAATTAACCCCAAACTCCTTAGGGTGGCATTCATTTTTGTGACCTCTCCAGTTTCTAGCCAACACTAGGAAAGGGCATTGCCAGGCCAGAACACACTGTGCCCTCTGAAGACCACACGCCCTTTACCACCTGTGCCCTTTGCTTGGAATGCTTTTTCTTCCCTTTCTCCTTGTTTGCCTGCCTAGCTCCTACTCATCCTCTTAGCTTCATATCCTTTGTGATGTCATCCTTGATTCCCCTTCAGGCAAAGTGAGTGGTTCCCTTCTCTATGTTCCTGCAACATTTTTTT... |
Task1_train_22543 | The gene KAT8 (lysine acetyltransferase 8) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | AAAGTTCTGCTGCCTTCTCTCATTTTCAAAATTAACCCCAAACTCCTTAGGGTGGCATTCATTTTTGTGACCTCTCCAGTTTCTAGCCAACACTAGGAAAGGGCATTGCCAGGCCAGAACACACTGTGCCCTCTGAAGACCACACGCCCTTTACCACCTGTGCCCTTTGCTTGGAATGCTTTTTCTTCCCTTTCTCCTTGTTTGCCTGCCTAGCTCCTACTCATCCTCTTAGCTTCATATCCTTTGTGATGTCATCCTTGATTCCCCTTCAGGCAAAGTGAGTGGTTCCCTTCTCTATGTTCCTGCAACATTTTTTTCCT... | AAAGTTCTGCTGCCTTCTCTCATTTTCAAAATTAACCCCAAACTCCTTAGGGTGGCATTCATTTTTGTGACCTCTCCAGTTTCTAGCCAACACTAGGAAAGGGCATTGCCAGGCCAGAACACACTGTGCCCTCTGAAGACCACACGCCCTTTACCACCTGTGCCCTTTGCTTGGAATGCTTTTTCTTCCCTTTCTCCTTGTTTGCCTGCCTAGCTCCTACTCATCCTCTTAGCTTCATATCCTTTGTGATGTCATCCTTGATTCCCCTTCAGGCAAAGTGAGTGGTTCCCTTCTCTATGTTCCTGCAACATTTTTTTCCT... |
Task1_train_22544 | Consider a variant on Chromosome 16 in gene KAT8 (lysine acetyltransferase 8). Determine its clinical classification and disease relevance. | Pathogenic; Li-Ghorbani-Weisz-Hubshman syndrome | TCCCCACTGCACTCCAGCCTGGGCGACAGAGTGAGAGTCTATCTCAGAAGAAAAAAAAAAAAACATGTCTGTGCCGTGCTTGCCACTTGGAATAAATGGCAGCTCACTAGTCCCCGAGGGTAAGGGACCTCACCTTGCCCTGCCTGTTTACTACTCTGTAAAATTGAAATAACGCAGCTGGGTGCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGTGCGAGGCTGGTTGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCGAAACTCCATTGCTACTAAACATACAAAAATTACCTGGATGT... | TCCCCACTGCACTCCAGCCTGGGCGACAGAGTGAGAGTCTATCTCAGAAGAAAAAAAAAAAAACATGTCTGTGCCGTGCTTGCCACTTGGAATAAATGGCAGCTCACTAGTCCCCGAGGGTAAGGGACCTCACCTTGCCCTGCCTGTTTACTACTCTGTAAAATTGAAATAACGCAGCTGGGTGCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGTGCGAGGCTGGTTGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCGAAACTCCATTGCTACTAAACATACAAAAATTACCTGGATGT... |
Task1_train_22545 | A mutation found in KAT8 (lysine acetyltransferase 8) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Li-Ghorbani-Weisz-Hubshman syndrome | GGGCGACAGAGTGAGAGTCTATCTCAGAAGAAAAAAAAAAAAACATGTCTGTGCCGTGCTTGCCACTTGGAATAAATGGCAGCTCACTAGTCCCCGAGGGTAAGGGACCTCACCTTGCCCTGCCTGTTTACTACTCTGTAAAATTGAAATAACGCAGCTGGGTGCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGTGCGAGGCTGGTTGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCGAAACTCCATTGCTACTAAACATACAAAAATTACCTGGATGTGGCGGCATGTGCCTGTAGTC... | GGGCGACAGAGTGAGAGTCTATCTCAGAAGAAAAAAAAAAAAACATGTCTGTGCCGTGCTTGCCACTTGGAATAAATGGCAGCTCACTAGTCCCCGAGGGTAAGGGACCTCACCTTGCCCTGCCTGTTTACTACTCTGTAAAATTGAAATAACGCAGCTGGGTGCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGTGCGAGGCTGGTTGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCGAAACTCCATTGCTACTAAACATACAAAAATTACCTGGATGTGGCGGCATGTGCCTGTAGTC... |
Task1_train_22546 | This variant lies on Chromosome 16 and affects the gene FUS (FUS RNA binding protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Amyotrophic lateral sclerosis type 6 | ACAGGCGTCAGCCACAATGCCCTGAATGTTGCTTTTCTTAAACCTGAGCAGCACTGAGATGTTGAAACTGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTGGGGCTGCAGTGAGCTATGATGGTGCCTGTGAACAGCCACTGCATTCCAGCCTGGGCAGTGTGTTGAGGCCCCATCTCAAAAACATAAAAAAAAAAACAAAAAACAAAA... | ACAGGCGTCAGCCACAATGCCCTGAATGTTGCTTTTCTTAAACCTGAGCAGCACTGAGATGTTGAAACTGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTGGGGCTGCAGTGAGCTATGATGGTGCCTGTGAACAGCCACTGCATTCCAGCCTGGGCAGTGTGTTGAGGCCCCATCTCAAAAACATAAAAAAAAAAACAAAAAACAAAA... |
Task1_train_22547 | Gene FUS (FUS RNA binding protein) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Tremor, hereditary essential, 4 | ATGGATACTAGGTGCTTTAGGTTTTTTCCTGTGTTTTTTATTTTACCTTTTCACATTTGCATTTTCTCTGTTCAACAAGCAGAACAGGATAATTCAGACAACAACACCATCTTTGTGCAAGGCCTGGGTGAGAATGTTACAATTGAGTCTGTGGCTGATTACTTCAAGCAGATTGGTATTATTAAGGTACTTGTGGAGAGGAGTGGGAGCTTTCTGTCAGTGTTGTAGGCTTGTGGATTTCACACATTAGTAAAAGCAAGTCTTTAATGGTTGCCAGCAGTAAAAACAAGTCTTAGTGGTTGTTGCCAGCTTAATTTGTT... | ATGGATACTAGGTGCTTTAGGTTTTTTCCTGTGTTTTTTATTTTACCTTTTCACATTTGCATTTTCTCTGTTCAACAAGCAGAACAGGATAATTCAGACAACAACACCATCTTTGTGCAAGGCCTGGGTGAGAATGTTACAATTGAGTCTGTGGCTGATTACTTCAAGCAGATTGGTATTATTAAGGTACTTGTGGAGAGGAGTGGGAGCTTTCTGTCAGTGTTGTAGGCTTGTGGATTTCACACATTAGTAAAAGCAAGTCTTTAATGGTTGCCAGCAGTAAAAACAAGTCTTAGTGGTTGTTGCCAGCTTAATTTGTT... |
Task1_train_22548 | This mutation occurs in FUS (FUS RNA binding protein) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Amyotrophic lateral sclerosis type 6 | ATGGATACTAGGTGCTTTAGGTTTTTTCCTGTGTTTTTTATTTTACCTTTTCACATTTGCATTTTCTCTGTTCAACAAGCAGAACAGGATAATTCAGACAACAACACCATCTTTGTGCAAGGCCTGGGTGAGAATGTTACAATTGAGTCTGTGGCTGATTACTTCAAGCAGATTGGTATTATTAAGGTACTTGTGGAGAGGAGTGGGAGCTTTCTGTCAGTGTTGTAGGCTTGTGGATTTCACACATTAGTAAAAGCAAGTCTTTAATGGTTGCCAGCAGTAAAAACAAGTCTTAGTGGTTGTTGCCAGCTTAATTTGTT... | ATGGATACTAGGTGCTTTAGGTTTTTTCCTGTGTTTTTTATTTTACCTTTTCACATTTGCATTTTCTCTGTTCAACAAGCAGAACAGGATAATTCAGACAACAACACCATCTTTGTGCAAGGCCTGGGTGAGAATGTTACAATTGAGTCTGTGGCTGATTACTTCAAGCAGATTGGTATTATTAAGGTACTTGTGGAGAGGAGTGGGAGCTTTCTGTCAGTGTTGTAGGCTTGTGGATTTCACACATTAGTAAAAGCAAGTCTTTAATGGTTGCCAGCAGTAAAAACAAGTCTTAGTGGTTGTTGCCAGCTTAATTTGTT... |
Task1_train_22549 | Assess the clinical impact of this variant on gene FUS (FUS RNA binding protein), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Amyotrophic lateral sclerosis 6, autosomal recessive | TGAGGAAAGAGCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACG... | TGAGGAAAGAGCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACG... |
Task1_train_22550 | The variant affects gene FUS (FUS RNA binding protein), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Tremor, hereditary essential, 4 | AGGAAAGAGCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGG... | AGGAAAGAGCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGG... |
Task1_train_22551 | This variant lies on Chromosome 16 and affects the gene FUS (FUS RNA binding protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Amyotrophic lateral sclerosis type 6 | AGGAAAGAGCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGG... | AGGAAAGAGCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGG... |
Task1_train_22552 | A variant was discovered on Chromosome 16, affecting FUS (FUS RNA binding protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Tremor, hereditary essential, 4 | GCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCA... | GCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCA... |
Task1_train_22553 | A variant found in Chromosome 16 affects FUS (FUS RNA binding protein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Amyotrophic lateral sclerosis type 6 | GCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCA... | GCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCA... |
Task1_train_22554 | A variant on Chromosome 16 in gene FUS (FUS RNA binding protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Tremor, hereditary essential, 4 | GCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCA... | GCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCA... |
Task1_train_22555 | Here is a mutation in FUS (FUS RNA binding protein) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Amyotrophic lateral sclerosis type 6 | GCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCA... | GCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCA... |
Task1_train_22556 | Here’s a variant in FUS (FUS RNA binding protein) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Tremor, hereditary essential, 4 | CCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCAT... | CCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCAT... |
Task1_train_22557 | This alteration in FUS (FUS RNA binding protein) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Amyotrophic lateral sclerosis type 6 | CCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCAT... | CCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCAT... |
Task1_train_22558 | A variant affecting Chromosome 16, within the gene FUS (FUS RNA binding protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Amyotrophic lateral sclerosis type 6 | CCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCAT... | CCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCAT... |
Task1_train_22559 | A variant was discovered on Chromosome 16, affecting FUS (FUS RNA binding protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | TGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTG... | TGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTG... |
Task1_train_22560 | The gene FUS (FUS RNA binding protein), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Amyotrophic lateral sclerosis type 6 | GTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGT... | GTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGT... |
Task1_train_22561 | A variant was discovered on Chromosome 16, affecting FUS (FUS RNA binding protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Tremor, hereditary essential, 4 | GTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGT... | GTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGT... |
Task1_train_22562 | The gene FUS (FUS RNA binding protein) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Juvenile amyotrophic lateral sclerosis | TTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGTA... | TTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGTA... |
Task1_train_22563 | Consider a variant on Chromosome 16 in gene FUS (FUS RNA binding protein). Determine its clinical classification and disease relevance. | Pathogenic; Amyotrophic lateral sclerosis type 6 | TTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGTA... | TTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGTA... |
Task1_train_22564 | A sequence alteration has been identified in FUS (FUS RNA binding protein) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Tremor, hereditary essential, 4 | TTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGTA... | TTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGTA... |
Task1_train_22565 | A mutation found in FUS (FUS RNA binding protein) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Juvenile amyotrophic lateral sclerosis | TCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGTACAC... | TCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGTACAC... |
Task1_train_22566 | Gene ARMC5 (armadillo repeat containing 5), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; ACTH-independent macronodular adrenal hyperplasia 2 | CAGTGGTACGCGCCTGTAGTTCCAGCTATTTGGGAGGCTGAGGCGGGAGGATCCCTTGAGCCTAGGAGGTTGAGGCTGCAGTGAACAATGACTGCCTGTGAATAGCCACTGCATTCCAGCCTGGGCAACGTAACAAGACCTCGTATCTTAGAAAACCAAACAAATCAGTAGTCGCTTAGGAAGCAGGAAAAAATAAATAAAAATAATTAAAACCAGCACAGTAAGAACAAATCCTAGCAAAACATAAGCTTTTCTGTTTACCAGCTAAATTGGTGCCTCCTAGTGGCAATGTGTGAAAGCAGTTTACATGTCACTACCTG... | CAGTGGTACGCGCCTGTAGTTCCAGCTATTTGGGAGGCTGAGGCGGGAGGATCCCTTGAGCCTAGGAGGTTGAGGCTGCAGTGAACAATGACTGCCTGTGAATAGCCACTGCATTCCAGCCTGGGCAACGTAACAAGACCTCGTATCTTAGAAAACCAAACAAATCAGTAGTCGCTTAGGAAGCAGGAAAAAATAAATAAAAATAATTAAAACCAGCACAGTAAGAACAAATCCTAGCAAAACATAAGCTTTTCTGTTTACCAGCTAAATTGGTGCCTCCTAGTGGCAATGTGTGAAAGCAGTTTACATGTCACTACCTG... |
Task1_train_22567 | This variant lies on Chromosome 16 and affects the gene ARMC5 (armadillo repeat containing 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; ACTH-independent macronodular adrenal hyperplasia 2 | TGAGGCCATCAACCGGGCCCGACTGCGGGATGCTGGTGGCTTGGATCTACTGATGGGCCTGCTGCGGGACCCTCGTGCAAGCGCATGGCACCCTCGTATTGTGGCTGCCCTTGTGGGGTTTCTGTATGACACTGGGGCCCTGGGCCGGCTGCAGGCTCTGGGACTTGTGCCTCTCCTGGCTGGGCAGCTGTGTGGTGAGGCTGGTGAGGAGGAAGAAGAGGGAAGAGAAGCTGCTTCCTGGGACTTTCCTGAGGAGAGGACCCCTGAGCGGGCACAGGGTGGAAGCTTCCGGAGCCTCAGGTGAGTCCCTGCCTCAGGGC... | TGAGGCCATCAACCGGGCCCGACTGCGGGATGCTGGTGGCTTGGATCTACTGATGGGCCTGCTGCGGGACCCTCGTGCAAGCGCATGGCACCCTCGTATTGTGGCTGCCCTTGTGGGGTTTCTGTATGACACTGGGGCCCTGGGCCGGCTGCAGGCTCTGGGACTTGTGCCTCTCCTGGCTGGGCAGCTGTGTGGTGAGGCTGGTGAGGAGGAAGAAGAGGGAAGAGAAGCTGCTTCCTGGGACTTTCCTGAGGAGAGGACCCCTGAGCGGGCACAGGGTGGAAGCTTCCGGAGCCTCAGGTGAGTCCCTGCCTCAGGGC... |
Task1_train_22568 | A sequence alteration has been identified in ARMC5 (armadillo repeat containing 5) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; ACTH-independent macronodular adrenal hyperplasia 2 | GGGCCCTGGGCCGGCTGCAGGCTCTGGGACTTGTGCCTCTCCTGGCTGGGCAGCTGTGTGGTGAGGCTGGTGAGGAGGAAGAAGAGGGAAGAGAAGCTGCTTCCTGGGACTTTCCTGAGGAGAGGACCCCTGAGCGGGCACAGGGTGGAAGCTTCCGGAGCCTCAGGTGAGTCCCTGCCTCAGGGCTTGGGAGGGTGAGCAGTGCAGTGATGTGGGGTTTGTGTCTGTCTTGGTCCTCTTCACTACCTCCACCCCTATTCTGTCTGAATAAGACTTTTATAACCCAGACTCCTGATTCCCACACGACCACCTGCCAGTTC... | GGGCCCTGGGCCGGCTGCAGGCTCTGGGACTTGTGCCTCTCCTGGCTGGGCAGCTGTGTGGTGAGGCTGGTGAGGAGGAAGAAGAGGGAAGAGAAGCTGCTTCCTGGGACTTTCCTGAGGAGAGGACCCCTGAGCGGGCACAGGGTGGAAGCTTCCGGAGCCTCAGGTGAGTCCCTGCCTCAGGGCTTGGGAGGGTGAGCAGTGCAGTGATGTGGGGTTTGTGTCTGTCTTGGTCCTCTTCACTACCTCCACCCCTATTCTGTCTGAATAAGACTTTTATAACCCAGACTCCTGATTCCCACACGACCACCTGCCAGTTC... |
Task1_train_22569 | Consider a variant on Chromosome 16 in gene ARMC5 (armadillo repeat containing 5). Determine its clinical classification and disease relevance. | Pathogenic; ACTH-independent macronodular adrenal hyperplasia 2 | CGCATTCTGTCACGCCTCACCTGCAACCCTGCCTGCCTCGAGGCCTTCGTGCGCAGCTATGGCGCGGCGCTGCTGCGGGCCTGGCTGGTGCTGGGGGTGGCGCCTGACGATTGGCCGGCACCACGTGCCCGGCCCACTCTCCACAGCCGGCACCGAGAGCTGGGTGAGTTCCCATACCCACCCGTCTCCTTGCCCCCATGTGAGTCCCCATCCTCCCCCATGGCTTCCATGGGCCCAGAACCTCACCTTCCCACTCACCTGTCCTCCCCAGCCCGTCCTCCAGACAACCTGTCACCAGAGTGGGGTGGGGAGCAGGGCGT... | CGCATTCTGTCACGCCTCACCTGCAACCCTGCCTGCCTCGAGGCCTTCGTGCGCAGCTATGGCGCGGCGCTGCTGCGGGCCTGGCTGGTGCTGGGGGTGGCGCCTGACGATTGGCCGGCACCACGTGCCCGGCCCACTCTCCACAGCCGGCACCGAGAGCTGGGTGAGTTCCCATACCCACCCGTCTCCTTGCCCCCATGTGAGTCCCCATCCTCCCCCATGGCTTCCATGGGCCCAGAACCTCACCTTCCCACTCACCTGTCCTCCCCAGCCCGTCCTCCAGACAACCTGTCACCAGAGTGGGGTGGGGAGCAGGGCGT... |
Task1_train_22570 | A genomic change on Chromosome 16 affects SLC5A2 (solute carrier family 5 member 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Familial renal glucosuria | GGGTGCTAGCTTAGCTAAGGAAGCGATGCATTTTTAGGGAGTAAAAGAGTGATTTTGAGCCTGGAGCACAGGGGAGAGGGCGGATGCTAAGGCCCAGGAAAGAGTGCTCTTGAACTTGGAAGGGCCCAGCTCCCCAAGACCAGCCTTCAGCCTTGATATGACCTGATTCAGCTAAACAAAGCTGGGGAGCGGGAATGAGACCTGGGGGACTTGTCGGCTCAGTGCCCCTGAGGTAACCATTAATCCTTCCCCTGGGGGAATCCAGGGGCTGGTTCCTGGATGGGGCAGATCCTGGGGAGAATGGAGGAGCACACAGAGGC... | GGGTGCTAGCTTAGCTAAGGAAGCGATGCATTTTTAGGGAGTAAAAGAGTGATTTTGAGCCTGGAGCACAGGGGAGAGGGCGGATGCTAAGGCCCAGGAAAGAGTGCTCTTGAACTTGGAAGGGCCCAGCTCCCCAAGACCAGCCTTCAGCCTTGATATGACCTGATTCAGCTAAACAAAGCTGGGGAGCGGGAATGAGACCTGGGGGACTTGTCGGCTCAGTGCCCCTGAGGTAACCATTAATCCTTCCCCTGGGGGAATCCAGGGGCTGGTTCCTGGATGGGGCAGATCCTGGGGAGAATGGAGGAGCACACAGAGGC... |
Task1_train_22571 | Given this context: Chromosome 16, gene SLC5A2 (solute carrier family 5 member 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Familial renal glucosuria | ATTTTTAGGGAGTAAAAGAGTGATTTTGAGCCTGGAGCACAGGGGAGAGGGCGGATGCTAAGGCCCAGGAAAGAGTGCTCTTGAACTTGGAAGGGCCCAGCTCCCCAAGACCAGCCTTCAGCCTTGATATGACCTGATTCAGCTAAACAAAGCTGGGGAGCGGGAATGAGACCTGGGGGACTTGTCGGCTCAGTGCCCCTGAGGTAACCATTAATCCTTCCCCTGGGGGAATCCAGGGGCTGGTTCCTGGATGGGGCAGATCCTGGGGAGAATGGAGGAGCACACAGAGGCAGGCTCGGCACCAGAGATGGGGGCCCAGA... | ATTTTTAGGGAGTAAAAGAGTGATTTTGAGCCTGGAGCACAGGGGAGAGGGCGGATGCTAAGGCCCAGGAAAGAGTGCTCTTGAACTTGGAAGGGCCCAGCTCCCCAAGACCAGCCTTCAGCCTTGATATGACCTGATTCAGCTAAACAAAGCTGGGGAGCGGGAATGAGACCTGGGGGACTTGTCGGCTCAGTGCCCCTGAGGTAACCATTAATCCTTCCCCTGGGGGAATCCAGGGGCTGGTTCCTGGATGGGGCAGATCCTGGGGAGAATGGAGGAGCACACAGAGGCAGGCTCGGCACCAGAGATGGGGGCCCAGA... |
Task1_train_22572 | This genomic variant is located on Chromosome 16, within the SLC5A2 (solute carrier family 5 member 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Familial renal glucosuria | CAGTGAGCTGAGATCCACCATTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCATCTCAAAAACAAAAACAAAAACAAACAAAACTGGGGCCTAGAGGGGGCTGCTAGTGGGGGTCCTGCAAGTAGGCGCCTGGCCCTAAAACTCAGCCACACTCTGCCCGCCAAGCCCTGCTTGTTGGTGCCTGCGTGCATGAGCCCCGAGAACAGGCTATCGTTTTGAAATTTATTCTCCAGGAAGGGGAACTCTTTCAAATTCCCACAAAGACGCCTTATTGCTAAGGCCAGCCTGTAACATAAACAGCTGGGCTGTCCCCTGACC... | CAGTGAGCTGAGATCCACCATTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCATCTCAAAAACAAAAACAAAAACAAACAAAACTGGGGCCTAGAGGGGGCTGCTAGTGGGGGTCCTGCAAGTAGGCGCCTGGCCCTAAAACTCAGCCACACTCTGCCCGCCAAGCCCTGCTTGTTGGTGCCTGCGTGCATGAGCCCCGAGAACAGGCTATCGTTTTGAAATTTATTCTCCAGGAAGGGGAACTCTTTCAAATTCCCACAAAGACGCCTTATTGCTAAGGCCAGCCTGTAACATAAACAGCTGGGCTGTCCCCTGACC... |
Task1_train_22573 | A change on Chromosome 16 affects gene VPS35 (VPS35 retromer complex component). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Parkinson disease 17 | GGGAAACCTAGCGTAATAAAACCCTCACTGGATGTACATGGAAAGGAGTATGGTGAGCTATTTCCTTTTTAAAGGATGAGACCTTCATAAATTGGCCCCTCGGATTCTGGTGATTCCCGCCGCAAGCGCAAATGCTCCAGTGTGTTATGAAAATGTTTGTTAATCTGCTCTGTTTCTTCACTGGATTCAAGATTCGGGAGGTCTTCTCGAATCTTTTGGATAAGCTGGTTTAAAACCTGAATTGTTACCTACAAAAGAATATGTACAAATTCATGATCAAGCACGTACCACAAAAAATGAAAGGCAATTTAATAAAACTG... | GGGAAACCTAGCGTAATAAAACCCTCACTGGATGTACATGGAAAGGAGTATGGTGAGCTATTTCCTTTTTAAAGGATGAGACCTTCATAAATTGGCCCCTCGGATTCTGGTGATTCCCGCCGCAAGCGCAAATGCTCCAGTGTGTTATGAAAATGTTTGTTAATCTGCTCTGTTTCTTCACTGGATTCAAGATTCGGGAGGTCTTCTCGAATCTTTTGGATAAGCTGGTTTAAAACCTGAATTGTTACCTACAAAAGAATATGTACAAATTCATGATCAAGCACGTACCACAAAAAATGAAAGGCAATTTAATAAAACTG... |
Task1_train_22574 | Given this variant in gene ORC6 (origin recognition complex subunit 6) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Meier-Gorlin syndrome 3 | CAGGGCCACAGTCCGTGACACTGAAGGCACACAAGATGTTTGATGAATTGAAGTGGATTCTGGAATTTTAGGGCTGGGAAGGGCCAAAGGGGCCGCCAACACTTGCTTTCGGATGCAAAAGTGCGACACCAAGAAGACTAAGCGAGCTGCCTAAATTATAGACAGTGACTGTGAAAGAACGAATACTCAAGTTTCCTTTCCCAATAAAATTCATGAGGACAAGACTGTGTGTCTGGCTGATTGCTCCCAACTGGTTCACCCAACAAAGAATCGGAGTGTGTAATACATCCTCAATTAAGTGTTTTCCATTACAAAACAAT... | CAGGGCCACAGTCCGTGACACTGAAGGCACACAAGATGTTTGATGAATTGAAGTGGATTCTGGAATTTTAGGGCTGGGAAGGGCCAAAGGGGCCGCCAACACTTGCTTTCGGATGCAAAAGTGCGACACCAAGAAGACTAAGCGAGCTGCCTAAATTATAGACAGTGACTGTGAAAGAACGAATACTCAAGTTTCCTTTCCCAATAAAATTCATGAGGACAAGACTGTGTGTCTGGCTGATTGCTCCCAACTGGTTCACCCAACAAAGAATCGGAGTGTGTAATACATCCTCAATTAAGTGTTTTCCATTACAAAACAAT... |
Task1_train_22575 | This mutation occurs in ORC6 (origin recognition complex subunit 6) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Meier-Gorlin syndrome 3 | ATTTTAGGGCTGGGAAGGGCCAAAGGGGCCGCCAACACTTGCTTTCGGATGCAAAAGTGCGACACCAAGAAGACTAAGCGAGCTGCCTAAATTATAGACAGTGACTGTGAAAGAACGAATACTCAAGTTTCCTTTCCCAATAAAATTCATGAGGACAAGACTGTGTGTCTGGCTGATTGCTCCCAACTGGTTCACCCAACAAAGAATCGGAGTGTGTAATACATCCTCAATTAAGTGTTTTCCATTACAAAACAATATAAATGTCAATCCATAAACGCTGGAAACACACAAATCCTAAAGTTAAATTTTGCGCCGGTCTT... | ATTTTAGGGCTGGGAAGGGCCAAAGGGGCCGCCAACACTTGCTTTCGGATGCAAAAGTGCGACACCAAGAAGACTAAGCGAGCTGCCTAAATTATAGACAGTGACTGTGAAAGAACGAATACTCAAGTTTCCTTTCCCAATAAAATTCATGAGGACAAGACTGTGTGTCTGGCTGATTGCTCCCAACTGGTTCACCCAACAAAGAATCGGAGTGTGTAATACATCCTCAATTAAGTGTTTTCCATTACAAAACAATATAAATGTCAATCCATAAACGCTGGAAACACACAAATCCTAAAGTTAAATTTTGCGCCGGTCTT... |
Task1_train_22576 | This variant affects gene ORC6 (origin recognition complex subunit 6) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Meier-Gorlin syndrome 3 | CCCGGATCAGCCTGCCCGCGGCCTTCCTCCTGCTGTCCCCTATCCCGCAGGCCAAATCGGGCTGGTCTTAATCCCGAACGGTCTGTGGGGCCCCTTCTCCACTCGCTGGAGTGCGGGGCGGTGGGAGAGAGCAGGGGCTACAAGGAGGGTCGACCCAGGTGCCACTGCCCCCTCAGCACTCACCATGGCGACTCCCCAGAGCCTGCAGCAAGCAGCACCCGCCCCGCGCGTAGCCTCCCGCGGTCATGTGACGCTGCGGCCCCTCCAAGCCCCGCCCTCTCTAGCCCCGCCCCCGGGCCCTACAGGCGGCTCATTGATTG... | CCCGGATCAGCCTGCCCGCGGCCTTCCTCCTGCTGTCCCCTATCCCGCAGGCCAAATCGGGCTGGTCTTAATCCCGAACGGTCTGTGGGGCCCCTTCTCCACTCGCTGGAGTGCGGGGCGGTGGGAGAGAGCAGGGGCTACAAGGAGGGTCGACCCAGGTGCCACTGCCCCCTCAGCACTCACCATGGCGACTCCCCAGAGCCTGCAGCAAGCAGCACCCGCCCCGCGCGTAGCCTCCCGCGGTCATGTGACGCTGCGGCCCCTCCAAGCCCCGCCCTCTCTAGCCCCGCCCCCGGGCCCTACAGGCGGCTCATTGATTG... |
Task1_train_22577 | Given this variant in gene ORC6 (origin recognition complex subunit 6) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Meier-Gorlin syndrome 3 | TCAAAAAGAAAATAAGTTGATTATCTGGTTGCCCAGAGAAGAAAACTGTACAGGTCTTGAGAAAAGCAACTTATGAAATTGTTTTGTAGGATTCTAAAGCTGAAAGTGGATAAAAACAAAATGGTAGCCACATCCGGTGTAAAAAAAGCTATATTTGATCGACTGTGTAAACAACTAGAGAAGATTGGACAGCAGGTCGACAGTAAGTATTCTGTAGTTCAAGAATGCGTCATTTGAAAATGTAGTCCTTTTGCTTGTAAAAGTCAAATATTTTCAAATATGTAAACTGGCTGCTTCCTAAATTCCGTATTACATGTGGA... | TCAAAAAGAAAATAAGTTGATTATCTGGTTGCCCAGAGAAGAAAACTGTACAGGTCTTGAGAAAAGCAACTTATGAAATTGTTTTGTAGGATTCTAAAGCTGAAAGTGGATAAAAACAAAATGGTAGCCACATCCGGTGTAAAAAAAGCTATATTTGATCGACTGTGTAAACAACTAGAGAAGATTGGACAGCAGGTCGACAGTAAGTATTCTGTAGTTCAAGAATGCGTCATTTGAAAATGTAGTCCTTTTGCTTGTAAAAGTCAAATATTTTCAAATATGTAAACTGGCTGCTTCCTAAATTCCGTATTACATGTGGA... |
Task1_train_22578 | Located on Chromosome 16, this mutation impacts GPT2 (glutamic--pyruvic transaminase 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Glutamate pyruvate transaminase 2 deficiency | CCACCACGCCTGGCTGATTTTTGTATTTTTGGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACTTCAAATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCATACCTGGCCTGTTTTATTTATATTTATATACATATATATATATATATACGTATATATATACACATATATATACACACACATATATATGTGTATATATATACACACACATATATGTGTATATATATACACACACACATATATATATATATATAACACACATATATATATATATATATATA... | CCACCACGCCTGGCTGATTTTTGTATTTTTGGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACTTCAAATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCATACCTGGCCTGTTTTATTTATATTTATATACATATATATATATATATACGTATATATATACACATATATATACACACACATATATATGTGTATATATATACACACACATATATGTGTATATATATACACACACACATATATATATATATATAACACACATATATATATATATATATATA... |
Task1_train_22579 | Gene GPT2 (glutamic--pyruvic transaminase 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Glutamate pyruvate transaminase 2 deficiency | GGGAGGGCTGGGGCCAGTGGTTACTTGCAGTCTGGAGTGCAGTGGAGTTACTTGCAGTGGAGTCTACAGTCCTGGGCTTGGGGGACTGGTGGAGCCTGCAGTCCTGGGCTTGGGGGACTGGTAGAGCCTGCAGTCCTGGGTTTGGGGGACCGGTGGAGGTTTCAGTCCTGGGCTTGGGGGACTGGTAGAGCCTGCAGTCCTGGGTTTGGGGGACTGGTAGAGGTTTCAGTCCTGGGTTTGGGAGACCGGTGGAGCCTGCAGTCCTGGGCTTGGGAGACCGGTGGAGCCTGCAGTCCTGTGTTTGGGGGACTGGTGGAGCC... | GGGAGGGCTGGGGCCAGTGGTTACTTGCAGTCTGGAGTGCAGTGGAGTTACTTGCAGTGGAGTCTACAGTCCTGGGCTTGGGGGACTGGTGGAGCCTGCAGTCCTGGGCTTGGGGGACTGGTAGAGCCTGCAGTCCTGGGTTTGGGGGACCGGTGGAGGTTTCAGTCCTGGGCTTGGGGGACTGGTAGAGCCTGCAGTCCTGGGTTTGGGGGACTGGTAGAGGTTTCAGTCCTGGGTTTGGGAGACCGGTGGAGCCTGCAGTCCTGGGCTTGGGAGACCGGTGGAGCCTGCAGTCCTGTGTTTGGGGGACTGGTGGAGCC... |
Task1_train_22580 | A sequence alteration has been identified in GPT2 (glutamic--pyruvic transaminase 2) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Glutamate pyruvate transaminase 2 deficiency | GTGGAGAACGGGTCTCGCTAGATTGCCCAGGCAGGTCTCAAACTCCTGGGCTCAAGCCATCCTCCTGCCTCTGCCTCCCTAAGAGTTGGGATTACCGGCTTGAGCCACTGTGCCTGGCTTGTTTGTTTTGTTTTAATTACATTTTTATAGAGAGAGATGGGGTCTTACTTTGTTGCCCGGGCTGGTTGCAAACTCCTGGGCCTCAAGGGAACCTCCCATTTCAGCCTCCCAAAGTGCTGGAATTGCAGGCGTGAGCCACTGCCTGGCTTGTTTTTTTGTTTTTTGTTTTTTTTTTCTGAGACGGAGTCTTGCTCTGTCGC... | GTGGAGAACGGGTCTCGCTAGATTGCCCAGGCAGGTCTCAAACTCCTGGGCTCAAGCCATCCTCCTGCCTCTGCCTCCCTAAGAGTTGGGATTACCGGCTTGAGCCACTGTGCCTGGCTTGTTTGTTTTGTTTTAATTACATTTTTATAGAGAGAGATGGGGTCTTACTTTGTTGCCCGGGCTGGTTGCAAACTCCTGGGCCTCAAGGGAACCTCCCATTTCAGCCTCCCAAAGTGCTGGAATTGCAGGCGTGAGCCACTGCCTGGCTTGTTTTTTTGTTTTTTGTTTTTTTTTTCTGAGACGGAGTCTTGCTCTGTCGC... |
Task1_train_22581 | A variant has been detected on Chromosome 16 in LONP2, SIAH1 (lon peptidase 2, peroxisomal| siah E3 ubiquitin protein ligase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Buratti-Harel syndrome | GTGAAGCCCAAATTTTCATTGACTTTCTAGGCTTACAGTACCCATAAAAACCACACAAAATTCTCTTTCACCATTCAGAAGGCAATTTCAGAATCTTGCCATGTGCCTCAAAGTAATTAGCAACAGTTAACTACATGGTACTGAAGGCATAATGGTAGCTAACATTCGCTGGATGCTGATATGAGCAAAGCACTGTTTCAGGTAACATACCTGTACCCCATTTAAAGGTTTTAAGTATCTACCATAATTTAACCCCACTTTACACATTAGGAAACTGGGGCCCAAGGTCACACAGCTGGTTAGTGGGGTAGAGCCGAGAC... | GTGAAGCCCAAATTTTCATTGACTTTCTAGGCTTACAGTACCCATAAAAACCACACAAAATTCTCTTTCACCATTCAGAAGGCAATTTCAGAATCTTGCCATGTGCCTCAAAGTAATTAGCAACAGTTAACTACATGGTACTGAAGGCATAATGGTAGCTAACATTCGCTGGATGCTGATATGAGCAAAGCACTGTTTCAGGTAACATACCTGTACCCCATTTAAAGGTTTTAAGTATCTACCATAATTTAACCCCACTTTACACATTAGGAAACTGGGGCCCAAGGTCACACAGCTGGTTAGTGGGGTAGAGCCGAGAC... |
Task1_train_22582 | The gene LONP2, SIAH1 (lon peptidase 2, peroxisomal| siah E3 ubiquitin protein ligase 1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Buratti-Harel syndrome | TTGACTTTCTAGGCTTACAGTACCCATAAAAACCACACAAAATTCTCTTTCACCATTCAGAAGGCAATTTCAGAATCTTGCCATGTGCCTCAAAGTAATTAGCAACAGTTAACTACATGGTACTGAAGGCATAATGGTAGCTAACATTCGCTGGATGCTGATATGAGCAAAGCACTGTTTCAGGTAACATACCTGTACCCCATTTAAAGGTTTTAAGTATCTACCATAATTTAACCCCACTTTACACATTAGGAAACTGGGGCCCAAGGTCACACAGCTGGTTAGTGGGGTAGAGCCGAGACTGGCACTTAGGTGCCTGG... | TTGACTTTCTAGGCTTACAGTACCCATAAAAACCACACAAAATTCTCTTTCACCATTCAGAAGGCAATTTCAGAATCTTGCCATGTGCCTCAAAGTAATTAGCAACAGTTAACTACATGGTACTGAAGGCATAATGGTAGCTAACATTCGCTGGATGCTGATATGAGCAAAGCACTGTTTCAGGTAACATACCTGTACCCCATTTAAAGGTTTTAAGTATCTACCATAATTTAACCCCACTTTACACATTAGGAAACTGGGGCCCAAGGTCACACAGCTGGTTAGTGGGGTAGAGCCGAGACTGGCACTTAGGTGCCTGG... |
Task1_train_22583 | This genomic variant is located on Chromosome 16, within the LONP2, SIAH1 (lon peptidase 2, peroxisomal| siah E3 ubiquitin protein ligase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Buratti-Harel syndrome | GTACTGAAGGCATAATGGTAGCTAACATTCGCTGGATGCTGATATGAGCAAAGCACTGTTTCAGGTAACATACCTGTACCCCATTTAAAGGTTTTAAGTATCTACCATAATTTAACCCCACTTTACACATTAGGAAACTGGGGCCCAAGGTCACACAGCTGGTTAGTGGGGTAGAGCCGAGACTGGCACTTAGGTGCCTGGAAGTCTGGTTGCAGAACCAAGGCTCTTAGCCACTAGGCTATGAAATAGTGAATTTATTATATCATTGTGCTTTTTTAAAGAGGTGAAAAGTGGTCAGCATTTTAGTCATTCTCCTGACA... | GTACTGAAGGCATAATGGTAGCTAACATTCGCTGGATGCTGATATGAGCAAAGCACTGTTTCAGGTAACATACCTGTACCCCATTTAAAGGTTTTAAGTATCTACCATAATTTAACCCCACTTTACACATTAGGAAACTGGGGCCCAAGGTCACACAGCTGGTTAGTGGGGTAGAGCCGAGACTGGCACTTAGGTGCCTGGAAGTCTGGTTGCAGAACCAAGGCTCTTAGCCACTAGGCTATGAAATAGTGAATTTATTATATCATTGTGCTTTTTTAAAGAGGTGAAAAGTGGTCAGCATTTTAGTCATTCTCCTGACA... |
Task1_train_22584 | This variant affects gene LONP2, SIAH1 (lon peptidase 2, peroxisomal| siah E3 ubiquitin protein ligase 1) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Buratti-Harel syndrome | TCATTGTGCTTTTTTAAAGAGGTGAAAAGTGGTCAGCATTTTAGTCATTCTCCTGACAGTTGTAAGAATCAAAATGTGGGCAAGAGGGGCAGGGCATGGGAAAGACTAATCCAGAGGCCATATACCCAGTTATTTGCTGTGATTAGAGTTAAGTCTACCGCACTTAAAAATGACAACACACAGCTTTCTGCTATATAATTAAAGTATGGAATGAAACAGGAAAATAACTTCGGATTTTATCAAACTTAGAGCTAAAGCAGACACAGTAAGATTTTTTTAATTTGCCAGATATTCTTTTAATGAGAATTATAAAAGACCAA... | TCATTGTGCTTTTTTAAAGAGGTGAAAAGTGGTCAGCATTTTAGTCATTCTCCTGACAGTTGTAAGAATCAAAATGTGGGCAAGAGGGGCAGGGCATGGGAAAGACTAATCCAGAGGCCATATACCCAGTTATTTGCTGTGATTAGAGTTAAGTCTACCGCACTTAAAAATGACAACACACAGCTTTCTGCTATATAATTAAAGTATGGAATGAAACAGGAAAATAACTTCGGATTTTATCAAACTTAGAGCTAAAGCAGACACAGTAAGATTTTTTTAATTTGCCAGATATTCTTTTAATGAGAATTATAAAAGACCAA... |
Task1_train_22585 | A mutation found in ZNF423 (zinc finger protein 423) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Joubert syndrome 19 | CCATCGACAGTCCCAGCACTGCCCAAAAGGTAGGCCTGGCTGTGGATGTGTGGCAGCCTCACTCAGACATAGCCCCAGCCCCAGGCCCCAAGCCCCAGTCCACGGGTGGGCACACTTAGAGGAACACTGGTGTCTACCCTGGGGTCTTCCCCCAAAACTGCCAGGTCTCCAGGAGGCTGAAAATTGGCATTCACAGCCTTCAGTTTCCAGGAGGCAACAGCCCACTACTGGCAGGGTCTGCTCTATGATTCACATATGTAAGATGCCTTTTGAAAAACTGAAAGCCCCACCCGCGTGAGAACATTACATGAGGTGACAGA... | CCATCGACAGTCCCAGCACTGCCCAAAAGGTAGGCCTGGCTGTGGATGTGTGGCAGCCTCACTCAGACATAGCCCCAGCCCCAGGCCCCAAGCCCCAGTCCACGGGTGGGCACACTTAGAGGAACACTGGTGTCTACCCTGGGGTCTTCCCCCAAAACTGCCAGGTCTCCAGGAGGCTGAAAATTGGCATTCACAGCCTTCAGTTTCCAGGAGGCAACAGCCCACTACTGGCAGGGTCTGCTCTATGATTCACATATGTAAGATGCCTTTTGAAAAACTGAAAGCCCCACCCGCGTGAGAACATTACATGAGGTGACAGA... |
Task1_train_22586 | This is a variant in HEATR3 (HEAT repeat containing 3), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Diamond-Blackfan anemia 21 | GCTGGGGGATCCTGGCACATTGTGAGGGCATCTTCTGACTATCTCCATATCCTTAGGGACTAGCACAGTGCTGTGTACTCGGAAGTCATGTCTTTCCAATTAAAATTTACCCAGGGCTGCTTTAGGGGGTGTCATTCTCAGTAGCCCCACCTTGCTGCCCTTGCAGTTCGCTTTTTATTTTATTTTATTTTTTTAGAAACGGGGTCTCCCGCTGTTCCTAGGCTGGTCTTGAATTCCTGAGCTCAATTGATCCTCCCACCTAGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACAGCACCTAGCCCTGCCCTTGT... | GCTGGGGGATCCTGGCACATTGTGAGGGCATCTTCTGACTATCTCCATATCCTTAGGGACTAGCACAGTGCTGTGTACTCGGAAGTCATGTCTTTCCAATTAAAATTTACCCAGGGCTGCTTTAGGGGGTGTCATTCTCAGTAGCCCCACCTTGCTGCCCTTGCAGTTCGCTTTTTATTTTATTTTATTTTTTTAGAAACGGGGTCTCCCGCTGTTCCTAGGCTGGTCTTGAATTCCTGAGCTCAATTGATCCTCCCACCTAGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACAGCACCTAGCCCTGCCCTTGT... |
Task1_train_22587 | Given this context: Chromosome 16, gene HEATR3 (HEAT repeat containing 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Diamond-Blackfan anemia 1 | GCTGGGGGATCCTGGCACATTGTGAGGGCATCTTCTGACTATCTCCATATCCTTAGGGACTAGCACAGTGCTGTGTACTCGGAAGTCATGTCTTTCCAATTAAAATTTACCCAGGGCTGCTTTAGGGGGTGTCATTCTCAGTAGCCCCACCTTGCTGCCCTTGCAGTTCGCTTTTTATTTTATTTTATTTTTTTAGAAACGGGGTCTCCCGCTGTTCCTAGGCTGGTCTTGAATTCCTGAGCTCAATTGATCCTCCCACCTAGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACAGCACCTAGCCCTGCCCTTGT... | GCTGGGGGATCCTGGCACATTGTGAGGGCATCTTCTGACTATCTCCATATCCTTAGGGACTAGCACAGTGCTGTGTACTCGGAAGTCATGTCTTTCCAATTAAAATTTACCCAGGGCTGCTTTAGGGGGTGTCATTCTCAGTAGCCCCACCTTGCTGCCCTTGCAGTTCGCTTTTTATTTTATTTTATTTTTTTAGAAACGGGGTCTCCCGCTGTTCCTAGGCTGGTCTTGAATTCCTGAGCTCAATTGATCCTCCCACCTAGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACAGCACCTAGCCCTGCCCTTGT... |
Task1_train_22588 | A variant was discovered on Chromosome 16, affecting HEATR3 (HEAT repeat containing 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Diamond-Blackfan anemia 1 | ATTCAGCCATTTTTAGGAAATTGATAGGTGACTTAATCTCAGAGGACAGTTTTTGTTACAATAAGAGAACTTCAGGAAAGTTAGTTCATATCTTTTACAAGAAAAATCACTTCTATTTTTGTGCCTTTAGTCTTATAGATTTATTTCTGTTTTTAGTTTTTCTTCCCCTTAATGAGCGTTTTTGAAATGGATTAGAATAGTCATTTTGCATTGTATAATAGTGTTTTCCTTCTCCATGTAGCTAGATTAATGATTTTTTAAAATACATTATTACTTTTGCTTCTAAAGTCAAGCAATGCTTACATATAGTAAAATGAACT... | ATTCAGCCATTTTTAGGAAATTGATAGGTGACTTAATCTCAGAGGACAGTTTTTGTTACAATAAGAGAACTTCAGGAAAGTTAGTTCATATCTTTTACAAGAAAAATCACTTCTATTTTTGTGCCTTTAGTCTTATAGATTTATTTCTGTTTTTAGTTTTTCTTCCCCTTAATGAGCGTTTTTGAAATGGATTAGAATAGTCATTTTGCATTGTATAATAGTGTTTTCCTTCTCCATGTAGCTAGATTAATGATTTTTTAAAATACATTATTACTTTTGCTTCTAAAGTCAAGCAATGCTTACATATAGTAAAATGAACT... |
Task1_train_22589 | This gene mutation involves HEATR3 (HEAT repeat containing 3) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Diamond-Blackfan anemia 21 | GCAATTTGCTTTTTTTTTTTTTAAGAATATGCTTAGAAGTTACAGTTAAATTGTTGCACAAAGAAGCCACTGGGGCTGGACATGGTGCTCATGCCTGTAATCTCAACACTTTTGGGAGGCTGAGGTGGGAGGATTACTTGAGGTCAGGATTTCAAGACCAGCTTGGGCAATATACTGAGACCCCATCTCTCAAAAAAAAAAAAAAAAGCAGGTAAATTTTTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCACAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGG... | GCAATTTGCTTTTTTTTTTTTTAAGAATATGCTTAGAAGTTACAGTTAAATTGTTGCACAAAGAAGCCACTGGGGCTGGACATGGTGCTCATGCCTGTAATCTCAACACTTTTGGGAGGCTGAGGTGGGAGGATTACTTGAGGTCAGGATTTCAAGACCAGCTTGGGCAATATACTGAGACCCCATCTCTCAAAAAAAAAAAAAAAAGCAGGTAAATTTTTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCACAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGG... |
Task1_train_22590 | Gene HEATR3 (HEAT repeat containing 3) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Diamond-Blackfan anemia | GCAATTTGCTTTTTTTTTTTTTAAGAATATGCTTAGAAGTTACAGTTAAATTGTTGCACAAAGAAGCCACTGGGGCTGGACATGGTGCTCATGCCTGTAATCTCAACACTTTTGGGAGGCTGAGGTGGGAGGATTACTTGAGGTCAGGATTTCAAGACCAGCTTGGGCAATATACTGAGACCCCATCTCTCAAAAAAAAAAAAAAAAGCAGGTAAATTTTTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCACAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGG... | GCAATTTGCTTTTTTTTTTTTTAAGAATATGCTTAGAAGTTACAGTTAAATTGTTGCACAAAGAAGCCACTGGGGCTGGACATGGTGCTCATGCCTGTAATCTCAACACTTTTGGGAGGCTGAGGTGGGAGGATTACTTGAGGTCAGGATTTCAAGACCAGCTTGGGCAATATACTGAGACCCCATCTCTCAAAAAAAAAAAAAAAAGCAGGTAAATTTTTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCACAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGG... |
Task1_train_22591 | A variant has been detected on Chromosome 16 in NOD2 (nucleotide binding oligomerization domain containing 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Blau syndrome | GATCTAAACATCAGTGCGCCACAGCAGGGTGCGCGGCACGGAGTGCAGGCCCTGGTTTGGCCCTTGGTTGAGGTTTGCTGTTGACATCATCAAGCACAGCTAGTCACTGTAAGACCAGGCCAGGGTGCAAGATTCCCCACACTTCTAAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCA... | GATCTAAACATCAGTGCGCCACAGCAGGGTGCGCGGCACGGAGTGCAGGCCCTGGTTTGGCCCTTGGTTGAGGTTTGCTGTTGACATCATCAAGCACAGCTAGTCACTGTAAGACCAGGCCAGGGTGCAAGATTCCCCACACTTCTAAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCA... |
Task1_train_22592 | This alteration occurs within gene NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Blau syndrome | GATCTAAACATCAGTGCGCCACAGCAGGGTGCGCGGCACGGAGTGCAGGCCCTGGTTTGGCCCTTGGTTGAGGTTTGCTGTTGACATCATCAAGCACAGCTAGTCACTGTAAGACCAGGCCAGGGTGCAAGATTCCCCACACTTCTAAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCA... | GATCTAAACATCAGTGCGCCACAGCAGGGTGCGCGGCACGGAGTGCAGGCCCTGGTTTGGCCCTTGGTTGAGGTTTGCTGTTGACATCATCAAGCACAGCTAGTCACTGTAAGACCAGGCCAGGGTGCAAGATTCCCCACACTTCTAAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCA... |
Task1_train_22593 | A genomic change on Chromosome 16 affects NOD2 (nucleotide binding oligomerization domain containing 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Regional enteritis | GATCTAAACATCAGTGCGCCACAGCAGGGTGCGCGGCACGGAGTGCAGGCCCTGGTTTGGCCCTTGGTTGAGGTTTGCTGTTGACATCATCAAGCACAGCTAGTCACTGTAAGACCAGGCCAGGGTGCAAGATTCCCCACACTTCTAAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCA... | GATCTAAACATCAGTGCGCCACAGCAGGGTGCGCGGCACGGAGTGCAGGCCCTGGTTTGGCCCTTGGTTGAGGTTTGCTGTTGACATCATCAAGCACAGCTAGTCACTGTAAGACCAGGCCAGGGTGCAAGATTCCCCACACTTCTAAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCA... |
Task1_train_22594 | Given this variant in gene NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Blau syndrome | ATCTAAACATCAGTGCGCCACAGCAGGGTGCGCGGCACGGAGTGCAGGCCCTGGTTTGGCCCTTGGTTGAGGTTTGCTGTTGACATCATCAAGCACAGCTAGTCACTGTAAGACCAGGCCAGGGTGCAAGATTCCCCACACTTCTAAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAG... | ATCTAAACATCAGTGCGCCACAGCAGGGTGCGCGGCACGGAGTGCAGGCCCTGGTTTGGCCCTTGGTTGAGGTTTGCTGTTGACATCATCAAGCACAGCTAGTCACTGTAAGACCAGGCCAGGGTGCAAGATTCCCCACACTTCTAAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAG... |
Task1_train_22595 | This variant affects gene NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Regional enteritis | ATCTAAACATCAGTGCGCCACAGCAGGGTGCGCGGCACGGAGTGCAGGCCCTGGTTTGGCCCTTGGTTGAGGTTTGCTGTTGACATCATCAAGCACAGCTAGTCACTGTAAGACCAGGCCAGGGTGCAAGATTCCCCACACTTCTAAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAG... | ATCTAAACATCAGTGCGCCACAGCAGGGTGCGCGGCACGGAGTGCAGGCCCTGGTTTGGCCCTTGGTTGAGGTTTGCTGTTGACATCATCAAGCACAGCTAGTCACTGTAAGACCAGGCCAGGGTGCAAGATTCCCCACACTTCTAAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAG... |
Task1_train_22596 | The gene NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Behcet disease | CAGGCCCTGGTTTGGCCCTTGGTTGAGGTTTGCTGTTGACATCATCAAGCACAGCTAGTCACTGTAAGACCAGGCCAGGGTGCAAGATTCCCCACACTTCTAAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCAT... | CAGGCCCTGGTTTGGCCCTTGGTTGAGGTTTGCTGTTGACATCATCAAGCACAGCTAGTCACTGTAAGACCAGGCCAGGGTGCAAGATTCCCCACACTTCTAAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCAT... |
Task1_train_22597 | The gene NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Blau syndrome | AAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCATCAACTCTGGGAACAGAGGTGACATAAACACAGGGCGTCCCCTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGT... | AAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCATCAACTCTGGGAACAGAGGTGACATAAACACAGGGCGTCCCCTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGT... |
Task1_train_22598 | This variant lies on Chromosome 16 and affects the gene NOD2 (nucleotide binding oligomerization domain containing 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Regional enteritis | AAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCATCAACTCTGGGAACAGAGGTGACATAAACACAGGGCGTCCCCTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGT... | AAAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCATCAACTCTGGGAACAGAGGTGACATAAACACAGGGCGTCCCCTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGT... |
Task1_train_22599 | A variant affecting Chromosome 16, within the gene NOD2 (nucleotide binding oligomerization domain containing 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Blau syndrome | AAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCATCAACTCTGGGAACAGAGGTGACATAAACACAGGGCGTCCCCTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTT... | AAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCATCAACTCTGGGAACAGAGGTGACATAAACACAGGGCGTCCCCTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTT... |
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