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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_24200	The gene HNF1B (HNF1 homeobox B), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?	Pathogenic; Renal cysts and diabetes syndrome	CACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG...	CACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG...
Task1_train_24201	This variant lies on Chromosome 17 and affects the gene HNF1B (HNF1 homeobox B). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?	Pathogenic; Renal cysts and diabetes syndrome	GCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATC...	GCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATC...
Task1_train_24202	This alteration occurs within gene HNF1B (HNF1 homeobox B) located on Chromosome 17. Is it associated with a disease or is it a benign variant?	Pathogenic; Renal cysts and diabetes syndrome	ATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTG...	ATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTG...
Task1_train_24203	A variant on Chromosome 17 in gene HNF1B (HNF1 homeobox B) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?	Pathogenic; Renal cysts and diabetes syndrome	AAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGG...	AAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGG...
Task1_train_24204	Given this variant in gene HNF1B (HNF1 homeobox B) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; Renal cysts and diabetes syndrome	TTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAA...	TTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAA...
Task1_train_24205	The gene HNF1B (HNF1 homeobox B) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.	Pathogenic; Renal cysts and diabetes syndrome	AAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAA...	AAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAA...
Task1_train_24206	This sequence change occurs on Chromosome 17, altering HNF1B (HNF1 homeobox B). What is the medical significance of this variant — is it benign or linked to a disease?	Pathogenic; Renal cysts and diabetes syndrome	TCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAA...	TCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAAATAAATAAATAAATAAAACAAAAATAACAATAA...
Task1_train_24207	Chromosome 17 houses a mutation in gene HNF1B (HNF1 homeobox B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?	Pathogenic; Renal cysts and diabetes syndrome	CCTAGGAACCGCTAGCGATTTCTTGAAAAATTACTTTAATCAAGTCCGGCGCTCCCGGGAGCGGGGGAGGAAAGGCAGCACCCGCTCGGGACGGGAGAAAAAAGCCTCCAGGTCTGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCG...	CCTAGGAACCGCTAGCGATTTCTTGAAAAATTACTTTAATCAAGTCCGGCGCTCCCGGGAGCGGGGGAGGAAAGGCAGCACCCGCTCGGGACGGGAGAAAAAAGCCTCCAGGTCTGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCG...
Task1_train_24208	A mutation on Chromosome 17 affecting HNF1B (HNF1 homeobox B) has been found. Is it harmful or harmless? What disease, if any, does it cause?	Pathogenic; Maturity onset diabetes mellitus in young	TGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTT...	TGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTT...
Task1_train_24209	A mutation in HNF1B (HNF1 homeobox B), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.	Pathogenic; Renal cysts and diabetes syndrome	GAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGCTGGGTGCGGAGGGGCGCCCCAGGTCCTTCCAGCGCCGCGCTAGAAAGCGGGCGCCTGCG...	GAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGCTGGGTGCGGAGGGGCGCCCCAGGTCCTTCCAGCGCCGCGCTAGAAAGCGGGCGCCTGCG...
Task1_train_24210	Here is a mutation in HNF1B (HNF1 homeobox B) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?	Pathogenic; Renal cysts and diabetes syndrome	GAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGCTGGGTGCGGAGGGGCGCCCCAGGTCCTTCCAGCGCCGCGCTAGAAAGCGGGCGCCTGCG...	GAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGCTGGGTGCGGAGGGGCGCCCCAGGTCCTTCCAGCGCCGCGCTAGAAAGCGGGCGCCTGCG...
Task1_train_24211	The following genetic variant occurs in GPR179 (G protein-coupled receptor 179) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.	Pathogenic; Congenital stationary night blindness 1E	CAGGTGTAAATGATGGAACGGGGCTTTAGAAGTCTTCTGTTCTGGGTTTCTCCCCAGATCCAGCATAGGGGCCGCAGATTGGCTTGTGTTCCAGAAAGTGGAGGGTCAGGGGTGGAGCTGCCCCTCCATACTCCCTGGCCCTTCAGCTGGATTGGGGTCTCAGGAGGCAGGGCAGGCAGAGCTCAGAGGGTGAGGACACAAGGGGGAAACGGGCAGAGGCACTGGAACAAGGAAGGACTCAGGAGATGCAGAGGACTCTGCTTTGTGGGCCTGTAAACAAGTCAGGTGTGAAGACGGCCCCAGTAGAGGTGGAGGGGGTG...	CAGGTGTAAATGATGGAACGGGGCTTTAGAAGTCTTCTGTTCTGGGTTTCTCCCCAGATCCAGCATAGGGGCCGCAGATTGGCTTGTGTTCCAGAAAGTGGAGGGTCAGGGGTGGAGCTGCCCCTCCATACTCCCTGGCCCTTCAGCTGGATTGGGGTCTCAGGAGGCAGGGCAGGCAGAGCTCAGAGGGTGAGGACACAAGGGGGAAACGGGCAGAGGCACTGGAACAAGGAAGGACTCAGGAGATGCAGAGGACTCTGCTTTGTGGGCCTGTAAACAAGTCAGGTGTGAAGACGGCCCCAGTAGAGGTGGAGGGGGTG...
Task1_train_24212	A genetic alteration is present in NEUROD2 (neuronal differentiation 2) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?	Pathogenic; Developmental and epileptic encephalopathy, 72	GTGGGGCTGCCCCCAGGTCTCCATCCCCACCCCTCACCCCAGGAGGGGACAGAATGGCCGCGGGGAGGAGGAGCCGGCGAGCTCACCTCCTTCTGCCCCCCGGACGCCGGCGCCGGGCCTGCTTGTGCGTGCGGTGTGGTGTGCGTGTGTCTTTCATGCAAACCCTCCCTCCCCAAACCGACCCCCCAACAGTTTGCCATTCCATACAAATTTGGAAACAGGTTTTTAAAAAACAGCATGACGCACAACGGGGACGGGGCGGGGGAGGGCAGTGGCACTGGGGCCCCAAATCTCCGAGTCACTGATTGTAAGAACCTGGG...	GTGGGGCTGCCCCCAGGTCTCCATCCCCACCCCTCACCCCAGGAGGGGACAGAATGGCCGCGGGGAGGAGGAGCCGGCGAGCTCACCTCCTTCTGCCCCCCGGACGCCGGCGCCGGGCCTGCTTGTGCGTGCGGTGTGGTGTGCGTGTGTCTTTCATGCAAACCCTCCCTCCCCAAACCGACCCCCCAACAGTTTGCCATTCCATACAAATTTGGAAACAGGTTTTTAAAAAACAGCATGACGCACAACGGGGACGGGGCGGGGGAGGGCAGTGGCACTGGGGCCCCAAATCTCCGAGTCACTGATTGTAAGAACCTGGG...
Task1_train_24213	This sequence change occurs on Chromosome 17, altering NEUROD2 (neuronal differentiation 2). What is the medical significance of this variant — is it benign or linked to a disease?	Pathogenic; Developmental and epileptic encephalopathy, 72	CAGGTCTCCATCCCCACCCCTCACCCCAGGAGGGGACAGAATGGCCGCGGGGAGGAGGAGCCGGCGAGCTCACCTCCTTCTGCCCCCCGGACGCCGGCGCCGGGCCTGCTTGTGCGTGCGGTGTGGTGTGCGTGTGTCTTTCATGCAAACCCTCCCTCCCCAAACCGACCCCCCAACAGTTTGCCATTCCATACAAATTTGGAAACAGGTTTTTAAAAAACAGCATGACGCACAACGGGGACGGGGCGGGGGAGGGCAGTGGCACTGGGGCCCCAAATCTCCGAGTCACTGATTGTAAGAACCTGGGGAGGGGGAGGGGG...	CAGGTCTCCATCCCCACCCCTCACCCCAGGAGGGGACAGAATGGCCGCGGGGAGGAGGAGCCGGCGAGCTCACCTCCTTCTGCCCCCCGGACGCCGGCGCCGGGCCTGCTTGTGCGTGCGGTGTGGTGTGCGTGTGTCTTTCATGCAAACCCTCCCTCCCCAAACCGACCCCCCAACAGTTTGCCATTCCATACAAATTTGGAAACAGGTTTTTAAAAAACAGCATGACGCACAACGGGGACGGGGCGGGGGAGGGCAGTGGCACTGGGGCCCCAAATCTCCGAGTCACTGATTGTAAGAACCTGGGGAGGGGGAGGGGG...
Task1_train_24214	This variant impacts the gene NEUROD2 (neuronal differentiation 2) on Chromosome 17. Is the change likely to result in a pathogenic outcome?	Pathogenic; not provided	CAGGTCTCCATCCCCACCCCTCACCCCAGGAGGGGACAGAATGGCCGCGGGGAGGAGGAGCCGGCGAGCTCACCTCCTTCTGCCCCCCGGACGCCGGCGCCGGGCCTGCTTGTGCGTGCGGTGTGGTGTGCGTGTGTCTTTCATGCAAACCCTCCCTCCCCAAACCGACCCCCCAACAGTTTGCCATTCCATACAAATTTGGAAACAGGTTTTTAAAAAACAGCATGACGCACAACGGGGACGGGGCGGGGGAGGGCAGTGGCACTGGGGCCCCAAATCTCCGAGTCACTGATTGTAAGAACCTGGGGAGGGGGAGGGGG...	CAGGTCTCCATCCCCACCCCTCACCCCAGGAGGGGACAGAATGGCCGCGGGGAGGAGGAGCCGGCGAGCTCACCTCCTTCTGCCCCCCGGACGCCGGCGCCGGGCCTGCTTGTGCGTGCGGTGTGGTGTGCGTGTGTCTTTCATGCAAACCCTCCCTCCCCAAACCGACCCCCCAACAGTTTGCCATTCCATACAAATTTGGAAACAGGTTTTTAAAAAACAGCATGACGCACAACGGGGACGGGGCGGGGGAGGGCAGTGGCACTGGGGCCCCAAATCTCCGAGTCACTGATTGTAAGAACCTGGGGAGGGGGAGGGGG...
Task1_train_24215	Gene TCAP (titin-cap) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.	Pathogenic; Hypertrophic cardiomyopathy 25	GGGCCAGGCCACTGCCTGCCTTCCTCCTCCCTCCCGGCTGGCCTGCCCCCTTGCCTGCCTGCATGCAGGCTTCCAGCAGAGCCAGCTTCTTCAGAGCCAGGTGGATCCTGTTTCGGTCCTGCCTAGGTGTGTGACCCTGGGCGAATCTACCTCTCTCAGCTTCTGCTTCCCACTTTATGAAAATGGGACTGATGTCACAGGGTTGTTATGAGATTAAAAGATATGAAGAACCGGGGACAGTGCTCAGTAATCAATAGTCTGCAGTTCTGCACCCACGTGCTCCTGGGTACTCTGCCGTCCCCACAGGGTCCTCAGCTCAG...	GGGCCAGGCCACTGCCTGCCTTCCTCCTCCCTCCCGGCTGGCCTGCCCCCTTGCCTGCCTGCATGCAGGCTTCCAGCAGAGCCAGCTTCTTCAGAGCCAGGTGGATCCTGTTTCGGTCCTGCCTAGGTGTGTGACCCTGGGCGAATCTACCTCTCTCAGCTTCTGCTTCCCACTTTATGAAAATGGGACTGATGTCACAGGGTTGTTATGAGATTAAAAGATATGAAGAACCGGGGACAGTGCTCAGTAATCAATAGTCTGCAGTTCTGCACCCACGTGCTCCTGGGTACTCTGCCGTCCCCACAGGGTCCTCAGCTCAG...
Task1_train_24216	The gene PGAP3 (post-GPI attachment to proteins phospholipase 3) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?	Pathogenic; Hyperphosphatasia with intellectual disability syndrome 4	GGACCTGCCCCTGCCGCCACAACTGTCTTCTCCTGCCCTCCAGCCCACCCTATTCACACAAATGAGCTGAACAAGGGCAGGTGAGGCTTGGAATTGATTTATTAAGCACATCCCTTGCCACCCTCCCACCTTAAAAGTTTTCAGTATCAAAAGAAGCTAGCGCAGGCCACCCGAGTCCCTGAGGTTGGAGTCCTAGCATAGCTCCCCTCCCTCAAAGAGGGACAAGGGGTCAGGGGCAGAGCAAAAATCCAGTCTGCTTCAACCACGGAGACTGCCTTTGGGATGGAAAGTTTCTGGAGCTCCCTCCATTCTATTCCTGT...	GGACCTGCCCCTGCCGCCACAACTGTCTTCTCCTGCCCTCCAGCCCACCCTATTCACACAAATGAGCTGAACAAGGGCAGGTGAGGCTTGGAATTGATTTATTAAGCACATCCCTTGCCACCCTCCCACCTTAAAAGTTTTCAGTATCAAAAGAAGCTAGCGCAGGCCACCCGAGTCCCTGAGGTTGGAGTCCTAGCATAGCTCCCCTCCCTCAAAGAGGGACAAGGGGTCAGGGGCAGAGCAAAAATCCAGTCTGCTTCAACCACGGAGACTGCCTTTGGGATGGAAAGTTTCTGGAGCTCCCTCCATTCTATTCCTGT...
Task1_train_24217	This gene mutation involves PGAP3 (post-GPI attachment to proteins phospholipase 3) on Chromosome 17. Is it associated with any clinical condition, or is it benign?	Pathogenic; Hyperphosphatasia with intellectual disability syndrome 4	CCACAACTGTCTTCTCCTGCCCTCCAGCCCACCCTATTCACACAAATGAGCTGAACAAGGGCAGGTGAGGCTTGGAATTGATTTATTAAGCACATCCCTTGCCACCCTCCCACCTTAAAAGTTTTCAGTATCAAAAGAAGCTAGCGCAGGCCACCCGAGTCCCTGAGGTTGGAGTCCTAGCATAGCTCCCCTCCCTCAAAGAGGGACAAGGGGTCAGGGGCAGAGCAAAAATCCAGTCTGCTTCAACCACGGAGACTGCCTTTGGGATGGAAAGTTTCTGGAGCTCCCTCCATTCTATTCCTGTGGGGCAGGAACATGCC...	CCACAACTGTCTTCTCCTGCCCTCCAGCCCACCCTATTCACACAAATGAGCTGAACAAGGGCAGGTGAGGCTTGGAATTGATTTATTAAGCACATCCCTTGCCACCCTCCCACCTTAAAAGTTTTCAGTATCAAAAGAAGCTAGCGCAGGCCACCCGAGTCCCTGAGGTTGGAGTCCTAGCATAGCTCCCCTCCCTCAAAGAGGGACAAGGGGTCAGGGGCAGAGCAAAAATCCAGTCTGCTTCAACCACGGAGACTGCCTTTGGGATGGAAAGTTTCTGGAGCTCCCTCCATTCTATTCCTGTGGGGCAGGAACATGCC...
Task1_train_24218	A variant was discovered in gene PGAP3 (post-GPI attachment to proteins phospholipase 3), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.	Pathogenic; Hyperphosphatasia with intellectual disability syndrome 4	CAACTGTCTTCTCCTGCCCTCCAGCCCACCCTATTCACACAAATGAGCTGAACAAGGGCAGGTGAGGCTTGGAATTGATTTATTAAGCACATCCCTTGCCACCCTCCCACCTTAAAAGTTTTCAGTATCAAAAGAAGCTAGCGCAGGCCACCCGAGTCCCTGAGGTTGGAGTCCTAGCATAGCTCCCCTCCCTCAAAGAGGGACAAGGGGTCAGGGGCAGAGCAAAAATCCAGTCTGCTTCAACCACGGAGACTGCCTTTGGGATGGAAAGTTTCTGGAGCTCCCTCCATTCTATTCCTGTGGGGCAGGAACATGCCAGG...	CAACTGTCTTCTCCTGCCCTCCAGCCCACCCTATTCACACAAATGAGCTGAACAAGGGCAGGTGAGGCTTGGAATTGATTTATTAAGCACATCCCTTGCCACCCTCCCACCTTAAAAGTTTTCAGTATCAAAAGAAGCTAGCGCAGGCCACCCGAGTCCCTGAGGTTGGAGTCCTAGCATAGCTCCCCTCCCTCAAAGAGGGACAAGGGGTCAGGGGCAGAGCAAAAATCCAGTCTGCTTCAACCACGGAGACTGCCTTTGGGATGGAAAGTTTCTGGAGCTCCCTCCATTCTATTCCTGTGGGGCAGGAACATGCCAGG...
Task1_train_24219	A variant affecting Chromosome 17, within the gene PGAP3 (post-GPI attachment to proteins phospholipase 3), has been observed. Determine if it's benign or associated with disease.	Pathogenic; Hyperphosphatasia with intellectual disability syndrome 4	ACACACACTTTGAAGCCACACCTCTTCCCCGACAACACCCGTCTCCACACTGCGCACCTAGGCCTGAGCTCACACACACCCAGGCCCATGCTCACGGCCCTGTCACCTATGCACTCAGCCTGGCCCACACTCCCGACACACGGTGGCAGGCTCTCAACCAGACAGCAGCACAGGATCCTTGCCCTGGGCTTGCTGGAGCCCTGGCCCTGAAAGGGAGTATGGTGAGGCCTCCTGGGAACCTGGCTAGGGCAATGGTCAGGGTGAAACTCCTTCCCAATCCCAGCAGCTTGGTCCCTCAAGATCCCATGGGGAGAATCGCC...	ACACACACTTTGAAGCCACACCTCTTCCCCGACAACACCCGTCTCCACACTGCGCACCTAGGCCTGAGCTCACACACACCCAGGCCCATGCTCACGGCCCTGTCACCTATGCACTCAGCCTGGCCCACACTCCCGACACACGGTGGCAGGCTCTCAACCAGACAGCAGCACAGGATCCTTGCCCTGGGCTTGCTGGAGCCCTGGCCCTGAAAGGGAGTATGGTGAGGCCTCCTGGGAACCTGGCTAGGGCAATGGTCAGGGTGAAACTCCTTCCCAATCCCAGCAGCTTGGTCCCTCAAGATCCCATGGGGAGAATCGCC...
Task1_train_24220	This variant affects gene PGAP3 (post-GPI attachment to proteins phospholipase 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association.	Pathogenic; Hyperphosphatasia with intellectual disability syndrome 4	CTGGTCTACTGCATCCACTCCCGCCCCCTTCAATCTGTTCTCTACACAGTAGCCAGAATGAGCTTTCCAAAGGGCAAATCTATTCATGAAACAACTTTTCTCCTCAACCCTCATTTAAAATCCCTCCGTAGGCCGAGCACGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGA...	CTGGTCTACTGCATCCACTCCCGCCCCCTTCAATCTGTTCTCTACACAGTAGCCAGAATGAGCTTTCCAAAGGGCAAATCTATTCATGAAACAACTTTTCTCCTCAACCCTCATTTAAAATCCCTCCGTAGGCCGAGCACGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGA...
Task1_train_24221	The gene PGAP3 (post-GPI attachment to proteins phospholipase 3) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?	Pathogenic; Hyperphosphatasia with intellectual disability syndrome 4	ACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCACGCGCCTATCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTTGCACTCCAGCCTGGGTGACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTAGGCTGAGCTCTACACAGAGACTATGGCTGTGACTCCCCA...	ACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCACGCGCCTATCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTTGCACTCCAGCCTGGGTGACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTAGGCTGAGCTCTACACAGAGACTATGGCTGTGACTCCCCA...
Task1_train_24222	Gene ERBB2 (erb-b2 receptor tyrosine kinase 2) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?	Pathogenic; not provided	AGGGAAGGGGAGGGCTGGGGCCGGGTGGAATGCAGGTGTCATACAGGTGACATGGGAGGGGTGGGATAACAGGCTTGGGATGTCTCCCCTGGGCCAGGTAGTCTCCCTAGAAGGTGATGCTGATGAGGGTCTGGTGCCCAGGGCGCCACTCAGCCCTCATCCTGCCCTTTGCCCAACAGTGACGCGCACTGTCTGTGCCGGTGGCTGTGCCCGCTGCAAGGGGCCACTGCCCACTGACTGCTGCCATGAGCAGTGTGCTGCCGGCTGCACGGGCCCCAAGCACTCTGACTGCCTGGTATGTGCCTCTGCTTTGTGCCCAA...	AGGGAAGGGGAGGGCTGGGGCCGGGTGGAATGCAGGTGTCATACAGGTGACATGGGAGGGGTGGGATAACAGGCTTGGGATGTCTCCCCTGGGCCAGGTAGTCTCCCTAGAAGGTGATGCTGATGAGGGTCTGGTGCCCAGGGCGCCACTCAGCCCTCATCCTGCCCTTTGCCCAACAGTGACGCGCACTGTCTGTGCCGGTGGCTGTGCCCGCTGCAAGGGGCCACTGCCCACTGACTGCTGCCATGAGCAGTGTGCTGCCGGCTGCACGGGCCCCAAGCACTCTGACTGCCTGGTATGTGCCTCTGCTTTGTGCCCAA...
Task1_train_24223	This variant affects gene ERBB2 (erb-b2 receptor tyrosine kinase 2) located on Chromosome 17. Evaluate its biological effect and specify any disease association.	Pathogenic; Visceral neuropathy, familial, 2, autosomal recessive	CAAAGTGCTGGGATTACAGGTGTGAGCCATCGTGCCTGGCGGAGCCGAGTCTTAAAAGATGACCCTGTGGAGAAATGGTGGTCCAGGCTGAAGGGACAGCCTATGCAAACACTGGGAGGTGTGGAAAATCATGACCTGTGGGTGGAAATTTTGGCTAGAACATCAAAATCATCAGGTGTACATTCCTGTACCCATGCAGCAGTCAGAATCTCTGGGGGTGGGGCCCCAAAATTGTATGCATACAGACTGTGTGCTGATTTGTGATATTACTTAGGATTTTTTGACTTTACAATGGTGGAAAAGCAATAATATACATTCAG...	CAAAGTGCTGGGATTACAGGTGTGAGCCATCGTGCCTGGCGGAGCCGAGTCTTAAAAGATGACCCTGTGGAGAAATGGTGGTCCAGGCTGAAGGGACAGCCTATGCAAACACTGGGAGGTGTGGAAAATCATGACCTGTGGGTGGAAATTTTGGCTAGAACATCAAAATCATCAGGTGTACATTCCTGTACCCATGCAGCAGTCAGAATCTCTGGGGGTGGGGCCCCAAAATTGTATGCATACAGACTGTGTGCTGATTTGTGATATTACTTAGGATTTTTTGACTTTACAATGGTGGAAAAGCAATAATATACATTCAG...
Task1_train_24224	Given this context: Chromosome 17, gene ERBB2 (erb-b2 receptor tyrosine kinase 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?	Pathogenic; Lung adenocarcinoma	CTGATTGCCTACAAGGAGTTTGGACTTTATTGTGGAGGCAGCGGGGAGCCAAGGCAGGTTTTAGAGTAGGAGAGGGTCCAAGCCTGTGGGTCACCCTTCCGACTTCCCTTTCCGAATGCCAAACACCTTCATGTCCCCCGTGGGCCCCCTTTGTCCCTCCCACCCCAAACTAGCCCTCAATCCCTGACCCTGGCTTCCGCCCCCAGCCCTCTGACGTCCATCATCTCTGCGGTGGTTGGCATTCTGCTGGTCGTGGTCTTGGGGGTGGTCTTTGGGATCCTCATCAAGCGACGGCAGCAGAAGATCCGGAAGTACACGAT...	CTGATTGCCTACAAGGAGTTTGGACTTTATTGTGGAGGCAGCGGGGAGCCAAGGCAGGTTTTAGAGTAGGAGAGGGTCCAAGCCTGTGGGTCACCCTTCCGACTTCCCTTTCCGAATGCCAAACACCTTCATGTCCCCCGTGGGCCCCCTTTGTCCCTCCCACCCCAAACTAGCCCTCAATCCCTGACCCTGGCTTCCGCCCCCAGCCCTCTGACGTCCATCATCTCTGCGGTGGTTGGCATTCTGCTGGTCGTGGTCTTGGGGGTGGTCTTTGGGATCCTCATCAAGCGACGGCAGCAGAAGATCCGGAAGTACACGAT...
Task1_train_24225	This mutation occurs in ERBB2 (erb-b2 receptor tyrosine kinase 2) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?	Pathogenic; Glioma susceptibility 1	TCCTGGGGTGGGCGGCCCCAGAGGATGGGGGCGGTGCCTGGAGGGGTGTGGTCGGCAGTTCTGATGGGAGGGGCAAGAGCTGGAGGCAGTGTTTGGGGGAGGGCAGTTACAGCGGAGAAGGGAGCGGGGCCAAGCCCTAGGGTGGTGAAGGATGTTTGGAGGACAAGTAATGATCTCCTGGAAGGCAGGTAGGATCCAGCCCACGCTCTTCTCACTCATATCCTCCTCTTTCTGCCCAGGGCATCTGGATCCCTGATGGGGAGAATGTGAAAATTCCAGTGGCCATCAAAGTGTTGAGGGAAAACACATCCCCCAAAGCC...	TCCTGGGGTGGGCGGCCCCAGAGGATGGGGGCGGTGCCTGGAGGGGTGTGGTCGGCAGTTCTGATGGGAGGGGCAAGAGCTGGAGGCAGTGTTTGGGGGAGGGCAGTTACAGCGGAGAAGGGAGCGGGGCCAAGCCCTAGGGTGGTGAAGGATGTTTGGAGGACAAGTAATGATCTCCTGGAAGGCAGGTAGGATCCAGCCCACGCTCTTCTCACTCATATCCTCCTCTTTCTGCCCAGGGCATCTGGATCCCTGATGGGGAGAATGTGAAAATTCCAGTGGCCATCAAAGTGTTGAGGGAAAACACATCCCCCAAAGCC...
Task1_train_24226	The gene IKZF3 (IKAROS family zinc finger 3) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?	Pathogenic; Immunodeficiency 84	CCTGGGAGGTGGAGGTTGCAGTGGGCTGAGATTGCACCACTGCATCCCAGCCTGGGCGGCAGAGTGAGACTCCATCTCAAACAAACAAACAAAATTAGCCGGGCGTCGTGGTAGGCATCTATAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATGGCGCCGCTGTACTCCAGCCTGGGTGACAGAGTGAGACACCATCTCAAACAAACAAACAAACAAACAAAATTAGCTGGGCGTTGTGGTAGGCATCTATAATCCCAGCTACTAGGGAGGCTGAG...	CCTGGGAGGTGGAGGTTGCAGTGGGCTGAGATTGCACCACTGCATCCCAGCCTGGGCGGCAGAGTGAGACTCCATCTCAAACAAACAAACAAAATTAGCCGGGCGTCGTGGTAGGCATCTATAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATGGCGCCGCTGTACTCCAGCCTGGGTGACAGAGTGAGACACCATCTCAAACAAACAAACAAACAAACAAAATTAGCTGGGCGTTGTGGTAGGCATCTATAATCCCAGCTACTAGGGAGGCTGAG...
Task1_train_24227	Here is a genetic alteration in THRA (thyroid hormone receptor alpha) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?	Pathogenic; Congenital nongoitrous hypothyroidism 6	GCTCCCCTCCCCCAAAGCCTCACCCCAGGAAGGACTCTGAGGACGATCTGGCCTGTCGCTGTGTGGCTGTCACTTGCAGCCCCTGTGTCTCCCAGCTTAGGCTTCTGTGGGTCTGGAAGAGTCTGTGCTTAATGTTTGGAGAAAGGCAGGAATGCCAGTTCCCAGTCTCCTAAGACTGCAACCCCTCCCCCATCACCTTCCCCTCCCCCATGTCTATGCGCCACCTTGTGGCTATCTCTAGGACTACACTCAGAGGCTGTGAGTCTGGTGGTAACTGCTGAAGCCGCTAGCTCAACTGGGGCCTAGGTGGGCTGAGTTCC...	GCTCCCCTCCCCCAAAGCCTCACCCCAGGAAGGACTCTGAGGACGATCTGGCCTGTCGCTGTGTGGCTGTCACTTGCAGCCCCTGTGTCTCCCAGCTTAGGCTTCTGTGGGTCTGGAAGAGTCTGTGCTTAATGTTTGGAGAAAGGCAGGAATGCCAGTTCCCAGTCTCCTAAGACTGCAACCCCTCCCCCATCACCTTCCCCTCCCCCATGTCTATGCGCCACCTTGTGGCTATCTCTAGGACTACACTCAGAGGCTGTGAGTCTGGTGGTAACTGCTGAAGCCGCTAGCTCAACTGGGGCCTAGGTGGGCTGAGTTCC...
Task1_train_24228	A mutation found in THRA (thyroid hormone receptor alpha) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?	Pathogenic; not provided	TTAGCTGCCCCATGCCTCAGTTTCCACATCTGTGAAATGGTGATTATTATAATTATTCCTTTTAGGATTATGGTCAGGATGAAATAAGACATGTAAAACATGTAGCCTGATGCCTGATCATATATTAAGTATTCAGTCATTATAGCTGCTACTACTGTTACTACCGTTGTTATTATTAGCTGACTTGGAGCTCTGGTTCTGGTCTATTCTCTGCTCAAGATGAAGGAAAAGCTTTGGGCCTGGGACTCAGGCACGGGCGGCCCCTCTTCCCCAAGCTGCCTTGGAGCTCCCCCTGGTGGGCAGGGAGCCTCAGTGAGAGG...	TTAGCTGCCCCATGCCTCAGTTTCCACATCTGTGAAATGGTGATTATTATAATTATTCCTTTTAGGATTATGGTCAGGATGAAATAAGACATGTAAAACATGTAGCCTGATGCCTGATCATATATTAAGTATTCAGTCATTATAGCTGCTACTACTGTTACTACCGTTGTTATTATTAGCTGACTTGGAGCTCTGGTTCTGGTCTATTCTCTGCTCAAGATGAAGGAAAAGCTTTGGGCCTGGGACTCAGGCACGGGCGGCCCCTCTTCCCCAAGCTGCCTTGGAGCTCCCCCTGGTGGGCAGGGAGCCTCAGTGAGAGG...
Task1_train_24229	A mutation found in THRA (thyroid hormone receptor alpha) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?	Pathogenic; Congenital nongoitrous hypothyroidism 6	ATAGACACACACACACAGATACAGACACACACACACACACAGACATATACACCTAGCACACAGACACACAGATACATAGACACACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGG...	ATAGACACACACACACAGATACAGACACACACACACACACAGACATATACACCTAGCACACAGACACACAGATACATAGACACACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGG...
Task1_train_24230	Here is a genetic alteration in THRA (thyroid hormone receptor alpha) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?	Pathogenic; not provided	AGACATATACACCTAGCACACAGACACACAGATACATAGACACACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGA...	AGACATATACACCTAGCACACAGACACACAGATACATAGACACACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGA...
Task1_train_24231	A sequence alteration has been identified in THRA (thyroid hormone receptor alpha) on Chromosome 17. Is it disease-inducing or harmless?	Pathogenic; Congenital nongoitrous hypothyroidism 6	ACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCT...	ACACCTAGCACACAGACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCT...
Task1_train_24232	Consider this mutation in THRA (thyroid hormone receptor alpha) on Chromosome 17. Is this a benign change or a disease-causing variant?	Pathogenic; Congenital nongoitrous hypothyroidism 6	GACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCTCCATCCCCTGTGCC...	GACACACACACACAGACACACCCAGCACACAGGCACACACACACACACACACCTAGCAGACACACACATAGATACATACAGACACACACACAAACACACAGGCACACACACACAGCATACAGACACACGCCAAGGTCTGGCTGCTCTAAGAAATCAGCCGGCTCCAAGTGCTCCCCTCCACAGCCCCTCATCCTTCAAGTCTATGCGGCCACCCAACTCCAGGCAGCCTGAAAGTTCTCATTTTCCAGAGCACTAGTGCTGGAGACAGGCTGCCCTACTAGCCATGTGACCTGGGGTAAGTTACCTCCATCCCCTGTGCC...
Task1_train_24233	Consider this mutation in CDC6 (cell division cycle 6) on Chromosome 17. Is this a benign change or a disease-causing variant?	Pathogenic; Meier-Gorlin syndrome 5	AAGAAAGAGGGCTAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTAAGGTCAGGAGTTTGAGACCACCCTGGTCAACATGGTGAAACCCTGTCTCTACTAATAATACAAAAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAACTCGGGAAGCAGAGGTTGCAGTGAGCTGAGATCGCGCTACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAGAAGGCTGGGCATGG...	AAGAAAGAGGGCTAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTAAGGTCAGGAGTTTGAGACCACCCTGGTCAACATGGTGAAACCCTGTCTCTACTAATAATACAAAAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAACTCGGGAAGCAGAGGTTGCAGTGAGCTGAGATCGCGCTACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAGAAGGCTGGGCATGG...
Task1_train_24234	Given this context: Chromosome 17, gene SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?	Pathogenic; Tessier cleft	TACAGGCGTGAGCCATGGCGCCTGGCAATGTCTATCTTTTGATAGTCCTCTGTTAAAGAAGTCAGTAGCTGTTGTACTTCATGCAGATGCCACCTTTCTGTTATGTACATTTGACATACATTTCCACCTCCCAAGTATTCCTCTTTCTAATCATTTTCGTACTGGTATGCTAAAGACATTCTCATATTGGCATCTTAATTGCTACCTGAATTTACTAGCAACTTTAAGACCCAATCTGAAAGTTAAAAACATCATAGGCCCAAGTTTCAGACTGTTTCTGAGTGAATCTCTTTAGTCCTTCTCAGTGTTCATGGTGTTAA...	TACAGGCGTGAGCCATGGCGCCTGGCAATGTCTATCTTTTGATAGTCCTCTGTTAAAGAAGTCAGTAGCTGTTGTACTTCATGCAGATGCCACCTTTCTGTTATGTACATTTGACATACATTTCCACCTCCCAAGTATTCCTCTTTCTAATCATTTTCGTACTGGTATGCTAAAGACATTCTCATATTGGCATCTTAATTGCTACCTGAATTTACTAGCAACTTTAAGACCCAATCTGAAAGTTAAAAACATCATAGGCCCAAGTTTCAGACTGTTTCTGAGTGAATCTCTTTAGTCCTTCTCAGTGTTCATGGTGTTAA...
Task1_train_24235	This mutation is located in gene SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?	Pathogenic; Coffin-Siris syndrome 5	AATAGTAGCATGAGCTATATTTATACATTCTTATTGGATTTCTGAATTAAATGGAAAGGAAACTTCATGTTTCCACATACTCATTAGCTTCTCCCTTAAGAGCCTTTAATTCAGCGAATTTAGTGAACCAATAAGAAAACAAGATATAATTAGAATGCATTTAGCTTTTTAAAAGCAGATGAGGCAAAATCCTGATTGTGATTTAAAAACCTTTCGTGCATTTTGAGTACAAAGATTTTGATAAACAATCAATAATTTTTGCTATTTTCTGCACTGAAAAGGATATTTCTTTTTCTTGTGGGAAATTCACATACAAATCT...	AATAGTAGCATGAGCTATATTTATACATTCTTATTGGATTTCTGAATTAAATGGAAAGGAAACTTCATGTTTCCACATACTCATTAGCTTCTCCCTTAAGAGCCTTTAATTCAGCGAATTTAGTGAACCAATAAGAAAACAAGATATAATTAGAATGCATTTAGCTTTTTAAAAGCAGATGAGGCAAAATCCTGATTGTGATTTAAAAACCTTTCGTGCATTTTGAGTACAAAGATTTTGATAAACAATCAATAATTTTTGCTATTTTCTGCACTGAAAAGGATATTTCTTTTTCTTGTGGGAAATTCACATACAAATCT...
Task1_train_24236	Assess the clinical impact of this variant on gene KRT25 (keratin 25), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.	Pathogenic; Wooly hair, autosomal recessive 3	GAGCTGGAGGCTATCATCCTTAGCAAGCTAACGCAGGAACAGAAAACCAAACACCACATGTTCTCACTTATAAGTGGGAGATAAATGATAAGGACTTATGAACACAAAGAAGGAAACAACAGATACTGGGTTCTACTTGAGGGGGAAGGGTGGGAGGAGGAAGAAGAGCAGAGAAGATAACTATTGGGTACCGGGCTTAATTCCTGGATGATCAAATAATATGCACAACAAACCTCCGTGACACGTGTTTACCTATGTAACAAACCTTCCAATGTACCCCCAAACCTAAATTAAAAGTTAAAAAATAAAAAATTAGCATT...	GAGCTGGAGGCTATCATCCTTAGCAAGCTAACGCAGGAACAGAAAACCAAACACCACATGTTCTCACTTATAAGTGGGAGATAAATGATAAGGACTTATGAACACAAAGAAGGAAACAACAGATACTGGGTTCTACTTGAGGGGGAAGGGTGGGAGGAGGAAGAAGAGCAGAGAAGATAACTATTGGGTACCGGGCTTAATTCCTGGATGATCAAATAATATGCACAACAAACCTCCGTGACACGTGTTTACCTATGTAACAAACCTTCCAATGTACCCCCAAACCTAAATTAAAAGTTAAAAAATAAAAAATTAGCATT...
Task1_train_24237	A mutation in KRT25 (keratin 25), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.	Pathogenic; Autosomal Recessive Hypotrichosis with Woolly Hair	CAACAGATTTCATTTTAATTACCTTTGACTTGACTTCCCACATTTCCAGATCCATAATCTTTAGACTTGTAACCCCCAGACTTACAGGCTCTGTGAAAACATCGCAAAAGAGGGTGATTTAGAGAGAACCCCATCAATTCTAGGATCACCATATGGTTTTCTTTAGCTCTTTGGTAGTTTCAACTGTGTAACCCAGTATTTGATTTATAGTGTTTGCTGATTTCTGTAGAGGTATGAATACCTTCTCCATTGCTGATATCAAGTCACCAAGTGACATCACTAAGTGAGGGGTTAGGAAGAGAAGAGATAGGCAGAAGAGG...	CAACAGATTTCATTTTAATTACCTTTGACTTGACTTCCCACATTTCCAGATCCATAATCTTTAGACTTGTAACCCCCAGACTTACAGGCTCTGTGAAAACATCGCAAAAGAGGGTGATTTAGAGAGAACCCCATCAATTCTAGGATCACCATATGGTTTTCTTTAGCTCTTTGGTAGTTTCAACTGTGTAACCCAGTATTTGATTTATAGTGTTTGCTGATTTCTGTAGAGGTATGAATACCTTCTCCATTGCTGATATCAAGTCACCAAGTGACATCACTAAGTGAGGGGTTAGGAAGAGAAGAGATAGGCAGAAGAGG...
Task1_train_24238	A mutation on Chromosome 17 affecting KRT10, KRT10-AS1 (keratin 10\| KRT10 antisense RNA 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?	Pathogenic; not provided	CTGAGGGATGTGACTGGGCTATGAAAGTACAAGGTCTTTAGTCCTGATCACTGGGCACAGTTGGGGAAGGCAGAGACCTAGTGGTGTCCTTTTGGTTACACTGGCATCACTACTTCCTGACAGCGTTTCTCACGTTCATCTGATGGACATCAAATAATTTTGTTGGGGGTGATATGATTTTACTTGGGTGGTGTCAGAAGATATGTCAAGCTATATAACAATTGGGAAGAAGTAATATAGTAACTGGAAGAAAGTAAGAAAAGGCAAAGGTGAGAAGTCAGGTAATTAGAAAATATAAAATTTCCAATTATTATTATTTT...	CTGAGGGATGTGACTGGGCTATGAAAGTACAAGGTCTTTAGTCCTGATCACTGGGCACAGTTGGGGAAGGCAGAGACCTAGTGGTGTCCTTTTGGTTACACTGGCATCACTACTTCCTGACAGCGTTTCTCACGTTCATCTGATGGACATCAAATAATTTTGTTGGGGGTGATATGATTTTACTTGGGTGGTGTCAGAAGATATGTCAAGCTATATAACAATTGGGAAGAAGTAATATAGTAACTGGAAGAAAGTAAGAAAAGGCAAAGGTGAGAAGTCAGGTAATTAGAAAATATAAAATTTCCAATTATTATTATTTT...
Task1_train_24239	A mutation on Chromosome 17 affecting KRT10, KRT10-AS1 (keratin 10\| KRT10 antisense RNA 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?	Pathogenic; not provided	TGTGACTGGGCTATGAAAGTACAAGGTCTTTAGTCCTGATCACTGGGCACAGTTGGGGAAGGCAGAGACCTAGTGGTGTCCTTTTGGTTACACTGGCATCACTACTTCCTGACAGCGTTTCTCACGTTCATCTGATGGACATCAAATAATTTTGTTGGGGGTGATATGATTTTACTTGGGTGGTGTCAGAAGATATGTCAAGCTATATAACAATTGGGAAGAAGTAATATAGTAACTGGAAGAAAGTAAGAAAAGGCAAAGGTGAGAAGTCAGGTAATTAGAAAATATAAAATTTCCAATTATTATTATTTTGGGGGTTT...	TGTGACTGGGCTATGAAAGTACAAGGTCTTTAGTCCTGATCACTGGGCACAGTTGGGGAAGGCAGAGACCTAGTGGTGTCCTTTTGGTTACACTGGCATCACTACTTCCTGACAGCGTTTCTCACGTTCATCTGATGGACATCAAATAATTTTGTTGGGGGTGATATGATTTTACTTGGGTGGTGTCAGAAGATATGTCAAGCTATATAACAATTGGGAAGAAGTAATATAGTAACTGGAAGAAAGTAAGAAAAGGCAAAGGTGAGAAGTCAGGTAATTAGAAAATATAAAATTTCCAATTATTATTATTTTGGGGGTTT...