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train · 48.9k rows

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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
Task1_train_7500	This variant impacts the gene GATA2 (GATA binding protein 2) on Chromosome 3. Is the change likely to result in a pathogenic outcome?	Pathogenic; Deafness-lymphedema-leukemia syndrome	GACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTT...	GACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTT...
Task1_train_7501	The gene GATA2 (GATA binding protein 2), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?	Pathogenic; GATA2 deficiency with susceptibility to MDS/AML	CGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAG...	CGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAG...
Task1_train_7502	This mutation occurs in GATA2 (GATA binding protein 2) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?	Pathogenic; Deafness-lymphedema-leukemia syndrome	CGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAG...	CGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAG...
Task1_train_7503	A sequence alteration has been identified in RAB7A (RAB7A, member RAS oncogene family) on Chromosome 3. Is it disease-inducing or harmless?	Pathogenic; Charcot-Marie-Tooth disease type 2B	AAAATCACAGTCAGCCATAGGACTGTACTTGTTGATGTTTTGATAAATATGGCCTTTACTTTTGTAAATTCAAAGTTAAATTAATTTTGGTAACTTTCTAGGAACCCGTCAACTTGTTGACTTCTTTTTGATGTATTACTTTGCCTTCTCTGTGTATCTGAGTTCCAGATGATGAATTGGTTCCACCTAACAGTAACAGAGTTCTTATGTAATTTTGCTTGTAGGAGTCTATCTGAAAAAAGCCATTTGACATACAGAGAAAGCTCTCTATGCTAATGTTCATTGCTGAGTTGTTTATAATGATAGGAAATTGTCAGCAA...	AAAATCACAGTCAGCCATAGGACTGTACTTGTTGATGTTTTGATAAATATGGCCTTTACTTTTGTAAATTCAAAGTTAAATTAATTTTGGTAACTTTCTAGGAACCCGTCAACTTGTTGACTTCTTTTTGATGTATTACTTTGCCTTCTCTGTGTATCTGAGTTCCAGATGATGAATTGGTTCCACCTAACAGTAACAGAGTTCTTATGTAATTTTGCTTGTAGGAGTCTATCTGAAAAAAGCCATTTGACATACAGAGAAAGCTCTCTATGCTAATGTTCATTGCTGAGTTGTTTATAATGATAGGAAATTGTCAGCAA...
Task1_train_7504	This variant lies on Chromosome 3 and affects the gene RAB7A (RAB7A, member RAS oncogene family). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?	Pathogenic; Charcot-Marie-Tooth disease type 2B	TTTGTCAAGAGTTTTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTC...	TTTGTCAAGAGTTTTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTC...
Task1_train_7505	A mutation in RAB7A (RAB7A, member RAS oncogene family), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.	Pathogenic; Charcot-Marie-Tooth disease type 2B	TTTTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTGATCCAC...	TTTTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTGATCCAC...
Task1_train_7506	This variant lies on Chromosome 3 and affects the gene RAB7A (RAB7A, member RAS oncogene family). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?	Pathogenic; Charcot-Marie-Tooth disease type 2B	TTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTGATCCACTG...	TTTCATTTGTTTTGTTTTTTGAGGTATAATACAAATGAAATATAACATGCTAATCTTTTTTGTTGTTTAGGCAAACTTTTCTCTTTTTTTTGAGACAGAGTTTCGCTCTTATCACCCAGGCTGGAGGGCAATGGCACGATCTTGGCTCACCGCAACCTGCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTATAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCCGGTGATCCACTG...
Task1_train_7507	This gene mutation involves ACAD9 (acyl-CoA dehydrogenase family member 9) on Chromosome 3. Is it associated with any clinical condition, or is it benign?	Pathogenic; Acyl-CoA dehydrogenase 9 deficiency	GACCTTAGACAAGGTAAAATAATCTGAAAAGATGCCTGCAAATATTTTGCAGTTTAGACTCTACGCCTTGCAGAGTTTTGAGCTCTTTTTTCTTGATGTTGTGTTAGCAATGTAATCTTTTTTGGTGCTGAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGAC...	GACCTTAGACAAGGTAAAATAATCTGAAAAGATGCCTGCAAATATTTTGCAGTTTAGACTCTACGCCTTGCAGAGTTTTGAGCTCTTTTTTCTTGATGTTGTGTTAGCAATGTAATCTTTTTTGGTGCTGAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGAC...
Task1_train_7508	This gene mutation involves ACAD9 (acyl-CoA dehydrogenase family member 9) on Chromosome 3. Is it associated with any clinical condition, or is it benign?	Pathogenic; not provided	CCTTAGACAAGGTAAAATAATCTGAAAAGATGCCTGCAAATATTTTGCAGTTTAGACTCTACGCCTTGCAGAGTTTTGAGCTCTTTTTTCTTGATGTTGTGTTAGCAATGTAATCTTTTTTGGTGCTGAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGACTG...	CCTTAGACAAGGTAAAATAATCTGAAAAGATGCCTGCAAATATTTTGCAGTTTAGACTCTACGCCTTGCAGAGTTTTGAGCTCTTTTTTCTTGATGTTGTGTTAGCAATGTAATCTTTTTTGGTGCTGAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGACTG...
Task1_train_7509	Given this variant in gene ACAD9 (acyl-CoA dehydrogenase family member 9) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; Acyl-CoA dehydrogenase 9 deficiency	GAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGACTGGTTGGGTTGGAGATGGAATGATAGGGGGTTGAAGTGAGTTTTTCTTGCTGTCTTCTGTTCCTAGGTGGGATTGCAAAACTTGTTGAGCCAGATTACCGGTCTGGGTGAAAAAGCAGAGTGGCATTCT...	GAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGACTGGTTGGGTTGGAGATGGAATGATAGGGGGTTGAAGTGAGTTTTTCTTGCTGTCTTCTGTTCCTAGGTGGGATTGCAAAACTTGTTGAGCCAGATTACCGGTCTGGGTGAAAAAGCAGAGTGGCATTCT...
Task1_train_7510	This gene mutation involves ACAD9 (acyl-CoA dehydrogenase family member 9) on Chromosome 3. Is it associated with any clinical condition, or is it benign?	Pathogenic; Acyl-CoA dehydrogenase 9 deficiency	TCTTGACCTCGTGAACCACCTGCCTCAGCCTCATGTTCTATTAATAGCAGCAGAGTTGAGGAGGTGAGACAGACATCCTGCAGCTTGGAAAGCTGAATATGTTATCTGACCCTTCATTTTAAAAGTTTGCTGACCTCTTACAAGTACTAAAACCTCCATTTTCAGGCCCTCAAAAGCATTCATATTTATTCCCAGTATTCTCCCTTGACCACATCTTTCTGCATCTGCAGTGGGAGCGATGCAGCCTCAATCCGGAGCAGAGCCACACTAAGTGAAGACAAGAAGCACTACATCCTCAATGGCTCCAAGGTAGGGTTCCT...	TCTTGACCTCGTGAACCACCTGCCTCAGCCTCATGTTCTATTAATAGCAGCAGAGTTGAGGAGGTGAGACAGACATCCTGCAGCTTGGAAAGCTGAATATGTTATCTGACCCTTCATTTTAAAAGTTTGCTGACCTCTTACAAGTACTAAAACCTCCATTTTCAGGCCCTCAAAAGCATTCATATTTATTCCCAGTATTCTCCCTTGACCACATCTTTCTGCATCTGCAGTGGGAGCGATGCAGCCTCAATCCGGAGCAGAGCCACACTAAGTGAAGACAAGAAGCACTACATCCTCAATGGCTCCAAGGTAGGGTTCCT...
Task1_train_7511	This variant affects the gene ACAD9 (acyl-CoA dehydrogenase family member 9) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.	Pathogenic; Acyl-CoA dehydrogenase 9 deficiency	TTTCACTGTGTGACATGAACGGTGTGTTCTTTTGATGTCTCTGTACTGGTGACTTCTGTGGTGATTTGGGAAGAAGACTAGTTAAGGCTTTATTTGACACGGGTCACTGGGCTTGCTTCTCTTGGGCATTGAGGCTTCTGACTTAATTACTTTCTCTCCTGTTTCACAGATTTGGCTCTCAGCACATGCAAATTGTTTCTTGTGTTTTTTCTGAACACTCCAGGAGAAATTTGCACTGATGGCTCAGAAGGCTTACGTCATGGAGAGTATGACCTACCTCACAGCAGGGATGCTGGACCAACCTGGCTTTCCCGACTGCT...	TTTCACTGTGTGACATGAACGGTGTGTTCTTTTGATGTCTCTGTACTGGTGACTTCTGTGGTGATTTGGGAAGAAGACTAGTTAAGGCTTTATTTGACACGGGTCACTGGGCTTGCTTCTCTTGGGCATTGAGGCTTCTGACTTAATTACTTTCTCTCCTGTTTCACAGATTTGGCTCTCAGCACATGCAAATTGTTTCTTGTGTTTTTTCTGAACACTCCAGGAGAAATTTGCACTGATGGCTCAGAAGGCTTACGTCATGGAGAGTATGACCTACCTCACAGCAGGGATGCTGGACCAACCTGGCTTTCCCGACTGCT...
Task1_train_7512	This mutation is located in gene ACAD9 (acyl-CoA dehydrogenase family member 9) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?	Pathogenic; Mitochondrial complex I deficiency	TTTCACTGTGTGACATGAACGGTGTGTTCTTTTGATGTCTCTGTACTGGTGACTTCTGTGGTGATTTGGGAAGAAGACTAGTTAAGGCTTTATTTGACACGGGTCACTGGGCTTGCTTCTCTTGGGCATTGAGGCTTCTGACTTAATTACTTTCTCTCCTGTTTCACAGATTTGGCTCTCAGCACATGCAAATTGTTTCTTGTGTTTTTTCTGAACACTCCAGGAGAAATTTGCACTGATGGCTCAGAAGGCTTACGTCATGGAGAGTATGACCTACCTCACAGCAGGGATGCTGGACCAACCTGGCTTTCCCGACTGCT...	TTTCACTGTGTGACATGAACGGTGTGTTCTTTTGATGTCTCTGTACTGGTGACTTCTGTGGTGATTTGGGAAGAAGACTAGTTAAGGCTTTATTTGACACGGGTCACTGGGCTTGCTTCTCTTGGGCATTGAGGCTTCTGACTTAATTACTTTCTCTCCTGTTTCACAGATTTGGCTCTCAGCACATGCAAATTGTTTCTTGTGTTTTTTCTGAACACTCCAGGAGAAATTTGCACTGATGGCTCAGAAGGCTTACGTCATGGAGAGTATGACCTACCTCACAGCAGGGATGCTGGACCAACCTGGCTTTCCCGACTGCT...
Task1_train_7513	A mutation on Chromosome 3 affecting ACAD9 (acyl-CoA dehydrogenase family member 9) has been found. Is it harmful or harmless? What disease, if any, does it cause?	Pathogenic; Acyl-CoA dehydrogenase 9 deficiency	AGGCCCTTCCCTTAGCCTGGGAGGGTTGGGGTTCTCCAGGGCTGGGGTGGTCAGCAGGGTTCAGGAAGCCCTCAAGGCCTTGGAAGAACACAGGGCTCTCGATGTAGGGTGAGAGCTCCTGTCTGGAGCCTGCTCGGAGCTGGGTGGTCCTGCCAGGAGGCCCCTGCAGTCCCCCCTTTTCCTGTAGGGAGTCCTGCTGTCCGTGATGTCAGCCTGACTGCAGGGGACAGTCCTCAGTCCCTAGTGCTGGCTGTGTAGCCTGGGTCAGGCCCCTGCACCTGACACACAGTACCATTGTGCAGAGTGGGCAGAAGCCCACT...	AGGCCCTTCCCTTAGCCTGGGAGGGTTGGGGTTCTCCAGGGCTGGGGTGGTCAGCAGGGTTCAGGAAGCCCTCAAGGCCTTGGAAGAACACAGGGCTCTCGATGTAGGGTGAGAGCTCCTGTCTGGAGCCTGCTCGGAGCTGGGTGGTCCTGCCAGGAGGCCCCTGCAGTCCCCCCTTTTCCTGTAGGGAGTCCTGCTGTCCGTGATGTCAGCCTGACTGCAGGGGACAGTCCTCAGTCCCTAGTGCTGGCTGTGTAGCCTGGGTCAGGCCCCTGCACCTGACACACAGTACCATTGTGCAGAGTGGGCAGAAGCCCACT...
Task1_train_7514	Gene ACAD9, CFAP92 (acyl-CoA dehydrogenase family member 9\| cilia and flagella associated protein 92 (putative)) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?	Pathogenic; Acyl-CoA dehydrogenase 9 deficiency	GGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAGGATCCAGTAGGTGCCATTGTCACCGTGTGCTTCTCAGGTCCCATACCTGCCCAGCAGGGGCCAGTCCAGGGCAGTGGGAGGAAAGAGCTGCCTTGACCTGGAGTGGGGGCATGGGGGTGTGGCGCAGCCTTGTGGAGGGGACCTTCCCCTGTGGTAG...	GGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAGGATCCAGTAGGTGCCATTGTCACCGTGTGCTTCTCAGGTCCCATACCTGCCCAGCAGGGGCCAGTCCAGGGCAGTGGGAGGAAAGAGCTGCCTTGACCTGGAGTGGGGGCATGGGGGTGTGGCGCAGCCTTGTGGAGGGGACCTTCCCCTGTGGTAG...
Task1_train_7515	This variant affects the gene GP9 (glycoprotein IX platelet) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.	Pathogenic; not provided	CTACCCAAATCCAGAACCAGGAGGCGGGGAGAGAACAGGCGGCCTCCCAAGGAAGGACTCACCCTGCTTGGCCATGCAGGAGGAGGAAGGCTGGCCTGAGAAGGATGTGAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATG...	CTACCCAAATCCAGAACCAGGAGGCGGGGAGAGAACAGGCGGCCTCCCAAGGAAGGACTCACCCTGCTTGGCCATGCAGGAGGAGGAAGGCTGGCCTGAGAAGGATGTGAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATG...
Task1_train_7516	A genetic alteration is present in GP9 (glycoprotein IX platelet) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?	Pathogenic; not provided	AGGAGGCGGGGAGAGAACAGGCGGCCTCCCAAGGAAGGACTCACCCTGCTTGGCCATGCAGGAGGAGGAAGGCTGGCCTGAGAAGGATGTGAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACT...	AGGAGGCGGGGAGAGAACAGGCGGCCTCCCAAGGAAGGACTCACCCTGCTTGGCCATGCAGGAGGAGGAAGGCTGGCCTGAGAAGGATGTGAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACT...
Task1_train_7517	This mutation occurs in GP9 (glycoprotein IX platelet) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?	Pathogenic; Bernard Soulier syndrome	TGGCCATGCAGGAGGAGGAAGGCTGGCCTGAGAAGGATGTGAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTT...	TGGCCATGCAGGAGGAGGAAGGCTGGCCTGAGAAGGATGTGAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTT...
Task1_train_7518	Assess the clinical impact of this variant on gene GP9 (glycoprotein IX platelet), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.	Pathogenic; Bernard-Soulier syndrome type C	GAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAA...	GAGACCAAAATAAGAACAAGCACACCCCCACCCCCGTAGGGCCGAGGAATATTCCCGAGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAA...
Task1_train_7519	Assess the clinical impact of this variant on gene GP9 (glycoprotein IX platelet), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.	Pathogenic; Bernard-Soulier syndrome type C	AGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTT...	AGGGTCCTGAATGTCAACGAAGTGCGTTTAAAGCCTCCGTCAGCCTTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTT...
Task1_train_7520	This alteration in GP9 (glycoprotein IX platelet) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?	Pathogenic; Macrothrombocytopenia	TTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGA...	TTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGA...
Task1_train_7521	A variant found in Chromosome 3 affects GP9 (glycoprotein IX platelet). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?	Pathogenic; Bernard Soulier syndrome	TTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGA...	TTCTGTCTTTGGCTTTTCCTGCCAGGCTTCTGTAACTTCTGTGTTTTTACCCTGTTTTATTTATTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGA...
Task1_train_7522	A variant affecting Chromosome 3, within the gene IFT122, LOC129937552 (intraflagellar transport 122\| ATAC-STARR-seq lymphoblastoid active region 20514), has been observed. Determine if it's benign or associated with disease.	Pathogenic; Cranioectodermal dysplasia 1	GCTTAAATAAATCAGTGAGTTACACTGTCTTCTCTGCAAATAAATGAGGTAAAAGTTTTACATAATGTAAAATTTCTGGGAGAGAGTGTGTATCACTTTCATCAGATGTAATCCTCCAGAAGGTAAATAATTTGATACAGAATTTTTGAATCTTCTTCATTCTTGATCCTCATGGTAACCTTGTAGGTACAATAAGGTTTACTCTCAATTTATTGATAAAATTGAGTGACAGGTTAAATTACTTGCAGAACAGACACGAGAACCCAAGTCTACCAAATCTTGGTCTAATACTTCTCCCCCATACTGTTATTGAAAAAAGC...	GCTTAAATAAATCAGTGAGTTACACTGTCTTCTCTGCAAATAAATGAGGTAAAAGTTTTACATAATGTAAAATTTCTGGGAGAGAGTGTGTATCACTTTCATCAGATGTAATCCTCCAGAAGGTAAATAATTTGATACAGAATTTTTGAATCTTCTTCATTCTTGATCCTCATGGTAACCTTGTAGGTACAATAAGGTTTACTCTCAATTTATTGATAAAATTGAGTGACAGGTTAAATTACTTGCAGAACAGACACGAGAACCCAAGTCTACCAAATCTTGGTCTAATACTTCTCCCCCATACTGTTATTGAAAAAAGC...
Task1_train_7523	Given a variant located on Chromosome 3 and affecting IFT122 (intraflagellar transport 122), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.	Pathogenic; Cranioectodermal dysplasia 1	TTACAGGATAGATGTGGCAAGTATGTGTACTTTTGAGTGCTGCCTCTGGCCTAGGCTGCCTGGGTGGGGGTTTGCATTGAAGATCTGAGGCTGAATTGGGCTCCGTGGGGAAGCCTTGCATGGAGTCTTGGATTAACGATGCCAATCGTGGGGTCTACATTGGGTTAGATAGATGGATACTGAATGTGTAGGTATTTTCTCCCCTTAGGGACAGAAAGATCTCCTTGGGGAGGTCTGGGGGCACTTATTCTGTTGAATTTCCATGCAGAGCTGGGTTTGCTTCCTAGGAGAAACGGCTGCAGTGCCTGTCCTTCAGCGGA...	TTACAGGATAGATGTGGCAAGTATGTGTACTTTTGAGTGCTGCCTCTGGCCTAGGCTGCCTGGGTGGGGGTTTGCATTGAAGATCTGAGGCTGAATTGGGCTCCGTGGGGAAGCCTTGCATGGAGTCTTGGATTAACGATGCCAATCGTGGGGTCTACATTGGGTTAGATAGATGGATACTGAATGTGTAGGTATTTTCTCCCCTTAGGGACAGAAAGATCTCCTTGGGGAGGTCTGGGGGCACTTATTCTGTTGAATTTCCATGCAGAGCTGGGTTTGCTTCCTAGGAGAAACGGCTGCAGTGCCTGTCCTTCAGCGGA...
Task1_train_7524	A mutation found in RHO (rhodopsin) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?	Pathogenic; Retinal dystrophy	CTGGCCATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCC...	CTGGCCATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCC...
Task1_train_7525	Here is a variant affecting RHO (rhodopsin) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.	Pathogenic; Retinitis pigmentosa 4	CTGGCCATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCC...	CTGGCCATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCC...
Task1_train_7526	The gene RHO (rhodopsin), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?	Pathogenic; Retinitis pigmentosa 4	ATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGG...	ATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGG...
Task1_train_7527	A genetic alteration is present in RHO (rhodopsin) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?	Pathogenic; Retinal dystrophy	ATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGG...	ATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGG...
Task1_train_7528	Gene RHO (rhodopsin) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?	Pathogenic; not specified	ATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGG...	ATGAGGGTCCACGTCAGAATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGG...
Task1_train_7529	Gene RHO (rhodopsin), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?	Pathogenic; Retinitis pigmentosa 4	AATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAG...	AATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAG...
Task1_train_7530	This variant affects gene RHO (rhodopsin) located on Chromosome 3. Evaluate its biological effect and specify any disease association.	Pathogenic; Retinitis pigmentosa 4	ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGC...	ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGC...
Task1_train_7531	Consider a variant on Chromosome 3 in gene RHO (rhodopsin). Determine its clinical classification and disease relevance.	Pathogenic; Retinal dystrophy	ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGC...	ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGC...
Task1_train_7532	Gene RHO (rhodopsin) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.	Pathogenic; Pigmentary retinal dystrophy	ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGC...	ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGC...
Task1_train_7533	This sequence change occurs on Chromosome 3, altering RHO (rhodopsin). What is the medical significance of this variant — is it benign or linked to a disease?	Pathogenic; Retinitis pigmentosa 4	ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGC...	ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGC...
Task1_train_7534	This is a variant in RHO (rhodopsin), located on Chromosome 3. Is this mutation a likely cause of disease or not?	Pathogenic; Congenital stationary night blindness autosomal dominant 1	ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGC...	ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGC...
Task1_train_7535	A variant affecting Chromosome 3, within the gene RHO (rhodopsin), has been observed. Determine if it's benign or associated with disease.	Pathogenic; Retinal dystrophy	ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGC...	ATCAAACCCTCACCTTAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGC...
Task1_train_7536	Consider this mutation in RHO (rhodopsin) on Chromosome 3. Is this a benign change or a disease-causing variant?	Pathogenic; Retinal dystrophy	TAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTC...	TAACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTC...
Task1_train_7537	The gene RHO (rhodopsin) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.	Pathogenic; not provided	AACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCC...	AACCTCATTAGCGTTGGGCATAATCACCAGGCCAAGCGCCTTAAACTACGAGAGGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCC...
Task1_train_7538	Gene RHO (rhodopsin), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?	Pathogenic; not provided	GGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGC...	GGCCCCATCCCACCCGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGC...
Task1_train_7539	Here is a variant affecting RHO (rhodopsin) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.	Pathogenic; RHO-related disorder	CGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGT...	CGCCCTGCCTTAGCCCTGCCACGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGT...