Split (2)

train · 48.9k rows

Subsets and Splits

No community queries yet

The top public SQL queries from the community will appear here once available.

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_12700	A variant affecting Chromosome 9, within the gene CDKN2A (cyclin dependent kinase inhibitor 2A), has been observed. Determine if it's benign or associated with disease.	Pathogenic; Melanoma-pancreatic cancer syndrome	ATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAGGGCTGATCACGCA...	ATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAGGGCTGATCACGCA...
Task1_train_12701	A mutation on Chromosome 9 affecting CDKN2A (cyclin dependent kinase inhibitor 2A) has been found. Is it harmful or harmless? What disease, if any, does it cause?	Pathogenic; Melanoma and neural system tumor syndrome	ATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAGGGCTGATCACGCA...	ATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAGGGCTGATCACGCA...
Task1_train_12702	This is a variant in PLAA (phospholipase A2 activating protein), located on Chromosome 9. Is this mutation a likely cause of disease or not?	Pathogenic; Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	TACTTTTGTATTCAGAAAAAACATTAAGAGAATCATAGGAAAGTTTAACTAAAAAAGAAAATCTTTAAAATATCATTAAATTATTTAACATATCCTTCAAGTGAGATTGTTTCCTTTTGCTAAGCTATATTTTGTAATCTCCACAACAAACATGAAATAGTAAAGTTGACATAAAAAAACTTGCACAGTAATAGGAAGCAGTGTTTACATTTTGCCACCCCTTACATTTTGAAGAGGGAACTCATATTCTTAACCAAGACTGTTTCTTATCATTATTCAAAGGTACCTACTTTTCCTAAATATTGCAATTAAATTATTTG...	TACTTTTGTATTCAGAAAAAACATTAAGAGAATCATAGGAAAGTTTAACTAAAAAAGAAAATCTTTAAAATATCATTAAATTATTTAACATATCCTTCAAGTGAGATTGTTTCCTTTTGCTAAGCTATATTTTGTAATCTCCACAACAAACATGAAATAGTAAAGTTGACATAAAAAAACTTGCACAGTAATAGGAAGCAGTGTTTACATTTTGCCACCCCTTACATTTTGAAGAGGGAACTCATATTCTTAACCAAGACTGTTTCTTATCATTATTCAAAGGTACCTACTTTTCCTAAATATTGCAATTAAATTATTTG...
Task1_train_12703	Mutation context: Chromosome 9, Gene PLAA (phospholipase A2 activating protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.	Pathogenic; Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GCTATGTTGGCCAGACTGGTCTTGAACTCCTGACCTTGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCACACCTGGCCTGATAATTCTATTTAAATCAACATGCAGGTAACATTAGTTTTATTTTATGAATGGGCAATGAAATTTTGAAGTAGAATGAGGAGATAATTTGGGAATGTGGAGTAGCTGTCAGGGAAGAAAAGGTGGATCTACATAAGGATTTGAGACAGGAATATAATACAAAGTCCTCGTAAAACAAGGAAGAGCACTAGCACCTGAAAAATGTTGAGTCAGAAATG...	GCTATGTTGGCCAGACTGGTCTTGAACTCCTGACCTTGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCACACCTGGCCTGATAATTCTATTTAAATCAACATGCAGGTAACATTAGTTTTATTTTATGAATGGGCAATGAAATTTTGAAGTAGAATGAGGAGATAATTTGGGAATGTGGAGTAGCTGTCAGGGAAGAAAAGGTGGATCTACATAAGGATTTGAGACAGGAATATAATACAAAGTCCTCGTAAAACAAGGAAGAGCACTAGCACCTGAAAAATGTTGAGTCAGAAATG...
Task1_train_12704	The gene PLAA (phospholipase A2 activating protein) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?	Pathogenic; Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	ATGTTTGGATTAGATGGCCGTCCTTAACCTCTTTTCTCAGAAAAATTACTTTATCTCCATGATTTCTTAATTCGAAATTCTGAGATAGGAGAAGCAAATTAGACACTTCCAACTGTATTAATCCTGGCCCATTCTACAGGAAACCTGTTTCTAACTTATTCGTCCACAAACATGTACATCACTCGTTCTATTGGTTTTTCTTCATATGCTTAGGAGGGAAAAAAACTAAGCCTATAAATCAGCCTCTGTCCCAGCCAAAAAATAAAACACCCACTTTATTAGACCCTCTATCCCTTATAGCTGTCACCTTCTTTTTCTTC...	ATGTTTGGATTAGATGGCCGTCCTTAACCTCTTTTCTCAGAAAAATTACTTTATCTCCATGATTTCTTAATTCGAAATTCTGAGATAGGAGAAGCAAATTAGACACTTCCAACTGTATTAATCCTGGCCCATTCTACAGGAAACCTGTTTCTAACTTATTCGTCCACAAACATGTACATCACTCGTTCTATTGGTTTTTCTTCATATGCTTAGGAGGGAAAAAAACTAAGCCTATAAATCAGCCTCTGTCCCAGCCAAAAAATAAAACACCCACTTTATTAGACCCTCTATCCCTTATAGCTGTCACCTTCTTTTTCTTC...
Task1_train_12705	Given a variant located on Chromosome 9 and affecting PLAA (phospholipase A2 activating protein), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.	Pathogenic; Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	CCAACACTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCACAGCTTCTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAATCAATAGTTCAATGAACAACAAAATCACTTTTCAAATAGAGAATCAGTTCAGCCCAAA...	CCAACACTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCACAGCTTCTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAATCAATAGTTCAATGAACAACAAAATCACTTTTCAAATAGAGAATCAGTTCAGCCCAAA...
Task1_train_12706	A variant was discovered in gene PLAA (phospholipase A2 activating protein), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.	Pathogenic; Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	CCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCACAGCTTCTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAATCAATAGTTCAATGAACAACAAAATCACTTTTCAAATAGAGAATCAGTTCAGCCCAAAGTTCTTCAAGTTCCTGGTAAGCACAACCACTCCAGTGATTAAACCCTTGTCA...	CCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCACAGCTTCTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAATCAATAGTTCAATGAACAACAAAATCACTTTTCAAATAGAGAATCAGTTCAGCCCAAAGTTCTTCAAGTTCCTGGTAAGCACAACCACTCCAGTGATTAAACCCTTGTCA...
Task1_train_12707	A sequence alteration has been identified in IFT74 (intraflagellar transport 74) on Chromosome 9. Is it disease-inducing or harmless?	Pathogenic; Spermatogenic failure 58	GGGTGACTGAAGACCTCTTCTTGAAGGAGAATGGGAATCCCCGACAAGCCCCCAGAATTGTTAGAAAGAAAGCTTGAAGTCGTAAAGAAAGACGAGTACTCAAACAAAGGATTTCTCAGCAAAGCAAATTTACTTTTGCGCAGTAGGGTGCTTCTTACAGGGCTGCTTGTCATGAGAGCACACTGAAGAAAGTAGAGTAGAAGCTTTTATTCCTAATGTGACTCCTGCCCTCGTGCCCTTTCCCCATTGGCTGGGGTCGGACTGCACAATCTAAACTAGACCCAATTGGCTAAACATTTAAACTTTCTTAGATAAGGTGG...	GGGTGACTGAAGACCTCTTCTTGAAGGAGAATGGGAATCCCCGACAAGCCCCCAGAATTGTTAGAAAGAAAGCTTGAAGTCGTAAAGAAAGACGAGTACTCAAACAAAGGATTTCTCAGCAAAGCAAATTTACTTTTGCGCAGTAGGGTGCTTCTTACAGGGCTGCTTGTCATGAGAGCACACTGAAGAAAGTAGAGTAGAAGCTTTTATTCCTAATGTGACTCCTGCCCTCGTGCCCTTTCCCCATTGGCTGGGGTCGGACTGCACAATCTAAACTAGACCCAATTGGCTAAACATTTAAACTTTCTTAGATAAGGTGG...
Task1_train_12708	This sequence change occurs on Chromosome 9, altering TEK (TEK receptor tyrosine kinase). What is the medical significance of this variant — is it benign or linked to a disease?	Pathogenic; Multiple cutaneous and mucosal venous malformations	ATTACAACCCTGTGAGTCAGACTCATCTCCACTGAGTTTGGAATATAAATGAGTAGCCCGAGGTCATATAGTGGTTAGGTGGCAGGGTTAAGGCTGCTGTTAAGTTCCCATTACACTGTGTCTTCTCCCACATACGGTGTGGGTCTGTTTCTCTATGTAAACTAAACTACCTGCTTCACCTCTGTCTTCCTGCACAGCACCAGCGGACCTCGGAGGGGGGAAGATGCTGCTTATAGCCATCCTTGGCTCTGCTGGAATGACCTGCCTGACTGTGCTGTTGGCCTTTCTGATCATATTGCAATTGAAGAGGGCAAATGTGC...	ATTACAACCCTGTGAGTCAGACTCATCTCCACTGAGTTTGGAATATAAATGAGTAGCCCGAGGTCATATAGTGGTTAGGTGGCAGGGTTAAGGCTGCTGTTAAGTTCCCATTACACTGTGTCTTCTCCCACATACGGTGTGGGTCTGTTTCTCTATGTAAACTAAACTACCTGCTTCACCTCTGTCTTCCTGCACAGCACCAGCGGACCTCGGAGGGGGGAAGATGCTGCTTATAGCCATCCTTGGCTCTGCTGGAATGACCTGCCTGACTGTGCTGTTGGCCTTTCTGATCATATTGCAATTGAAGAGGGCAAATGTGC...
Task1_train_12709	Consider this mutation in TEK (TEK receptor tyrosine kinase) on Chromosome 9. Is this a benign change or a disease-causing variant?	Pathogenic; Segmental undergrowth associated with venous malformation without capillary component	ATTACAACCCTGTGAGTCAGACTCATCTCCACTGAGTTTGGAATATAAATGAGTAGCCCGAGGTCATATAGTGGTTAGGTGGCAGGGTTAAGGCTGCTGTTAAGTTCCCATTACACTGTGTCTTCTCCCACATACGGTGTGGGTCTGTTTCTCTATGTAAACTAAACTACCTGCTTCACCTCTGTCTTCCTGCACAGCACCAGCGGACCTCGGAGGGGGGAAGATGCTGCTTATAGCCATCCTTGGCTCTGCTGGAATGACCTGCCTGACTGTGCTGTTGGCCTTTCTGATCATATTGCAATTGAAGAGGGCAAATGTGC...	ATTACAACCCTGTGAGTCAGACTCATCTCCACTGAGTTTGGAATATAAATGAGTAGCCCGAGGTCATATAGTGGTTAGGTGGCAGGGTTAAGGCTGCTGTTAAGTTCCCATTACACTGTGTCTTCTCCCACATACGGTGTGGGTCTGTTTCTCTATGTAAACTAAACTACCTGCTTCACCTCTGTCTTCCTGCACAGCACCAGCGGACCTCGGAGGGGGGAAGATGCTGCTTATAGCCATCCTTGGCTCTGCTGGAATGACCTGCCTGACTGTGCTGTTGGCCTTTCTGATCATATTGCAATTGAAGAGGGCAAATGTGC...
Task1_train_12710	Given this variant in gene TEK (TEK receptor tyrosine kinase) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; Vascular malformation	ATCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGG...	ATCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGG...
Task1_train_12711	Chromosome 9 houses a mutation in gene TEK (TEK receptor tyrosine kinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?	Pathogenic; Blue rubber bleb nevus	TCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGG...	TCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGG...
Task1_train_12712	A variant has been detected on Chromosome 9 in TEK (TEK receptor tyrosine kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease.	Pathogenic; Ventricular septal defect	TCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGG...	TCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGG...
Task1_train_12713	The following genetic variant occurs in TEK (TEK receptor tyrosine kinase) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition.	Pathogenic; Multiple cutaneous and mucosal venous malformations	TCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGG...	TCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGG...
Task1_train_12714	This sequence variant lies in TEK (TEK receptor tyrosine kinase) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?	Pathogenic; Vascular malformation	AATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGA...	AATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGA...
Task1_train_12715	Given a variant located on Chromosome 9 and affecting TEK (TEK receptor tyrosine kinase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.	Pathogenic; Vascular malformation	AAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAA...	AAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAA...
Task1_train_12716	This gene mutation involves TEK (TEK receptor tyrosine kinase) on Chromosome 9. Is it associated with any clinical condition, or is it benign?	Pathogenic; not provided	AACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAAT...	AACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAAT...
Task1_train_12717	An alteration has been detected in RIGI (RNA sensor RIG-I) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?	Pathogenic; Singleton-Merten syndrome 2	CCATTTATCAATATATTATTTCAGCCTAATTATTAATTGCCTGCAATGTGCCATGCTTTGATTATAGACAGTTGAAAGAACACACTTCATGCTCCATACAGGGCTGTGATCTTAAGGGAGAGAAATATACATGGCTAACTAACCGTAGCAGTTCTCTAACAGAAGTACATGTAAAGTGTAGCCGGGTGTGGTGGCTCACACCTGTAATCCTAACACTTTGGGAGGCCGAGGAGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAAATTAGCCA...	CCATTTATCAATATATTATTTCAGCCTAATTATTAATTGCCTGCAATGTGCCATGCTTTGATTATAGACAGTTGAAAGAACACACTTCATGCTCCATACAGGGCTGTGATCTTAAGGGAGAGAAATATACATGGCTAACTAACCGTAGCAGTTCTCTAACAGAAGTACATGTAAAGTGTAGCCGGGTGTGGTGGCTCACACCTGTAATCCTAACACTTTGGGAGGCCGAGGAGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAAATTAGCCA...
Task1_train_12718	The gene RIGI (RNA sensor RIG-I) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?	Pathogenic; Singleton-Merten syndrome 2	ACTTACAAGCAGCCTTCAAAAAGGAACTTATCTACACCACTCCCTATTACATGTCTATTTGTTCTACCTCAGAAATACAGTCACATACTACTCAGAGAGCAAGGGTGAAGTCATATATATTTTCTGTATCCCTCTCTTCCTTTCAGGGTTAGTGTAATAATAACATCAATAAACAACTGTTAGTCATATTAAAAAATCATATCTGATCTTTGGAGGAGTGACATCATGAATTCAGATCATTCCATTTCAACTAAAATGATCAAATACATATTCAAACAGTGATGACCACACAGGCACAGAGCATGGGAAAAGGCTGAGTG...	ACTTACAAGCAGCCTTCAAAAAGGAACTTATCTACACCACTCCCTATTACATGTCTATTTGTTCTACCTCAGAAATACAGTCACATACTACTCAGAGAGCAAGGGTGAAGTCATATATATTTTCTGTATCCCTCTCTTCCTTTCAGGGTTAGTGTAATAATAACATCAATAAACAACTGTTAGTCATATTAAAAAATCATATCTGATCTTTGGAGGAGTGACATCATGAATTCAGATCATTCCATTTCAACTAAAATGATCAAATACATATTCAAACAGTGATGACCACACAGGCACAGAGCATGGGAAAAGGCTGAGTG...
Task1_train_12719	A mutation on Chromosome 9 affecting APTX (aprataxin) has been found. Is it harmful or harmless? What disease, if any, does it cause?	Pathogenic; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	CTCACAACTTGAGTGAAAAGTCACATCCCCAAAGATATCCACAATTTCATCAAACCCAACTTTTTAGTTTTCCCTTCACCTTTAGTTCTAATATTATCCCAAAAAACAACTGAATACAACTGTTTTATCCAAATTTATTCTCAGGGAAAAAGAAAGTAGTGGCTCTACGCAACTTTTTCATTCACCAACCACCTTTCCATGCATCAGAACCTATGCTGTGATTGTTAGCTGAACTTCAATAGTTTCCACCTACTTAAGAGAGATGCCTCAAACAAATTAACTTTATTTTCAGACAACAGGTCCAAGAAGACTTCACAGCT...	CTCACAACTTGAGTGAAAAGTCACATCCCCAAAGATATCCACAATTTCATCAAACCCAACTTTTTAGTTTTCCCTTCACCTTTAGTTCTAATATTATCCCAAAAAACAACTGAATACAACTGTTTTATCCAAATTTATTCTCAGGGAAAAAGAAAGTAGTGGCTCTACGCAACTTTTTCATTCACCAACCACCTTTCCATGCATCAGAACCTATGCTGTGATTGTTAGCTGAACTTCAATAGTTTCCACCTACTTAAGAGAGATGCCTCAAACAAATTAACTTTATTTTCAGACAACAGGTCCAAGAAGACTTCACAGCT...
Task1_train_12720	A genomic change on Chromosome 9 affects APTX (aprataxin). Classify this variant as benign or pathogenic, and name the disease if relevant.	Pathogenic; not provided	GAGCATTCTCCTTAGCACGACAACATTCACTGTAGGAAAAAGGTATGGGCATCACGATCACTACGTGAAAAGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGC...	GAGCATTCTCCTTAGCACGACAACATTCACTGTAGGAAAAAGGTATGGGCATCACGATCACTACGTGAAAAGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGC...
Task1_train_12721	A variant found in Chromosome 9 affects APTX (aprataxin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?	Pathogenic; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	ATCACGATCACTACGTGAAAAGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCGTGATCATAGCTTACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCCTTC...	ATCACGATCACTACGTGAAAAGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCGTGATCATAGCTTACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCCTTC...
Task1_train_12722	This gene mutation involves APTX (aprataxin) on Chromosome 9. Is it associated with any clinical condition, or is it benign?	Pathogenic; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	TGAAAAGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCGTGATCATAGCTTACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCAACTCAACCTCCCA...	TGAAAAGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCGTGATCATAGCTTACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCAACTCAACCTCCCA...
Task1_train_12723	Located on Chromosome 9, this mutation impacts B4GALT1 (beta-1,4-galactosyltransferase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?	Pathogenic; Combined low LDL and fibrinogen	AACCTGAGCCCAGGCTGGACCTGGCAAAGGCGCTCAGTGGTAGGAGTGCCTTGTGTCATCTCATCCCAGGTGGCTCAATAGCTCCCAACAGAGGTGGGTTTGTGACAGACAGCCCTGTGGGTGGGAGCCTCAACTGGGGTGGGAGCACCTGTGAAAACCTGAGGTGGAACAGGAGGCTTTAGGCACCGAAGTTCTTGGGAGGGAGTTGGGGTGTGGGTTCGGCTGAACTTCTTTCTAGATCACTAATTAAAAGGCACATTCATGCTGGGGAATGGATAGTCTGTTTGACCCTGAGTGCCACAGTCAAGTTTTAGGGGACA...	AACCTGAGCCCAGGCTGGACCTGGCAAAGGCGCTCAGTGGTAGGAGTGCCTTGTGTCATCTCATCCCAGGTGGCTCAATAGCTCCCAACAGAGGTGGGTTTGTGACAGACAGCCCTGTGGGTGGGAGCCTCAACTGGGGTGGGAGCACCTGTGAAAACCTGAGGTGGAACAGGAGGCTTTAGGCACCGAAGTTCTTGGGAGGGAGTTGGGGTGTGGGTTCGGCTGAACTTCTTTCTAGATCACTAATTAAAAGGCACATTCATGCTGGGGAATGGATAGTCTGTTTGACCCTGAGTGCCACAGTCAAGTTTTAGGGGACA...
Task1_train_12724	Here is a mutation in KIF24 (kinesin family member 24) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?	Pathogenic; Asphyxiating thoracic dystrophy 3	GTGCTGACTCTTCTGGCTTTTTTTTGGCCACATGTCCAGAGCGCACAGTTCCTTTCACAGGGCTAGCATGAATGACCCACTCTTGTGAAGGACTCCCTCTGGAGCCACCCCTTTTACCAGAGACCTTAGGTGCAGAAGTAAAAGGAATGTTGGGTGGGTGGCTGGTCAGAGGATGGACCTTCCCTCTCGTGGAACCAGGGGCTGCCACTGTGAGTGACTGCTGAAATCCCAGCTTGACTTTTTTGGGAGAACATTTGTCCTCTGACAAAGCCCCAGGGGAGCTCTGAATTCGTTTTGGAGAGGAGTTTCCAGATGTCCGA...	GTGCTGACTCTTCTGGCTTTTTTTTGGCCACATGTCCAGAGCGCACAGTTCCTTTCACAGGGCTAGCATGAATGACCCACTCTTGTGAAGGACTCCCTCTGGAGCCACCCCTTTTACCAGAGACCTTAGGTGCAGAAGTAAAAGGAATGTTGGGTGGGTGGCTGGTCAGAGGATGGACCTTCCCTCTCGTGGAACCAGGGGCTGCCACTGTGAGTGACTGCTGAAATCCCAGCTTGACTTTTTTGGGAGAACATTTGTCCTCTGACAAAGCCCCAGGGGAGCTCTGAATTCGTTTTGGAGAGGAGTTTCCAGATGTCCGA...
Task1_train_12725	This alteration in DNAI1 (dynein axonemal intermediate chain 1) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?	Pathogenic; Primary ciliary dyskinesia	GTGTCAGAGATATATGGGGGAGGCCAGAGAGGTTGTGTTAGATCTCAAATGCCAGGCTGAGGCAGAAGGAGTTTGTTCTGTTGGCAGTGGTGAGCCATGGAAGGTTTTGGAGCCAAGGAGAGGACTGTCTGTTCTAAGAAGATTGGGCTCCTGTCCCACAGCACAGGCTTCTTCTCCAGGGAACCTGCCTGAGTAGCCAGCTCTGTGCAGGCCCTACTGTGAAGCTTCAACCAGCAACACTCTGTGGGGTGTGTGTGTGTGTGCGTGCTGGTGCAATTCTGGGGAAGGAGGCAGGAAGGATGTACGAGCAAGAGACTAGG...	GTGTCAGAGATATATGGGGGAGGCCAGAGAGGTTGTGTTAGATCTCAAATGCCAGGCTGAGGCAGAAGGAGTTTGTTCTGTTGGCAGTGGTGAGCCATGGAAGGTTTTGGAGCCAAGGAGAGGACTGTCTGTTCTAAGAAGATTGGGCTCCTGTCCCACAGCACAGGCTTCTTCTCCAGGGAACCTGCCTGAGTAGCCAGCTCTGTGCAGGCCCTACTGTGAAGCTTCAACCAGCAACACTCTGTGGGGTGTGTGTGTGTGTGCGTGCTGGTGCAATTCTGGGGAAGGAGGCAGGAAGGATGTACGAGCAAGAGACTAGG...
Task1_train_12726	Chromosome 9 houses a mutation in gene DNAI1 (dynein axonemal intermediate chain 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?	Pathogenic; Kartagener syndrome	GGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCT...	GGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCT...
Task1_train_12727	Gene DNAI1 (dynein axonemal intermediate chain 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.	Pathogenic; Primary ciliary dyskinesia	GGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCT...	GGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCT...
Task1_train_12728	This genomic variant is located on Chromosome 9, within the DNAI1 (dynein axonemal intermediate chain 1) gene. Can you determine its pathogenicity and name any linked disease?	Pathogenic; DNAI1-related disorder	GGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCT...	GGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCT...
Task1_train_12729	Assess the clinical impact of this variant on gene SIGMAR1 (sigma non-opioid intracellular receptor 1), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable.	Pathogenic; Amyotrophic lateral sclerosis type 16	GTCAGACTGAGGCAGTATAATACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTAT...	GTCAGACTGAGGCAGTATAATACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTAT...
Task1_train_12730	A variant affecting Chromosome 9, within the gene SIGMAR1 (sigma non-opioid intracellular receptor 1), has been observed. Determine if it's benign or associated with disease.	Pathogenic; Autosomal recessive distal spinal muscular atrophy 2	GTCAGACTGAGGCAGTATAATACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTAT...	GTCAGACTGAGGCAGTATAATACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTAT...
Task1_train_12731	This alteration in SIGMAR1 (sigma non-opioid intracellular receptor 1) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?	Pathogenic; Inborn genetic diseases	GTCAGACTGAGGCAGTATAATACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTAT...	GTCAGACTGAGGCAGTATAATACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTAT...
Task1_train_12732	A sequence alteration has been identified in GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9. Is it disease-inducing or harmless?	Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	AGATGTTCCTGATGGGGGTCAGGATTTAATTAGCATGATTCAGGGGGCGGCACTGAAGCACTGGTGTTCTTGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCA...	AGATGTTCCTGATGGGGGTCAGGATTTAATTAGCATGATTCAGGGGGCGGCACTGAAGCACTGGTGTTCTTGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCA...
Task1_train_12733	This variant affects gene GALT (galactose-1-phosphate uridylyltransferase) located on Chromosome 9. Evaluate its biological effect and specify any disease association.	Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GATGTTCCTGATGGGGGTCAGGATTTAATTAGCATGATTCAGGGGGCGGCACTGAAGCACTGGTGTTCTTGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAA...	GATGTTCCTGATGGGGGTCAGGATTTAATTAGCATGATTCAGGGGGCGGCACTGAAGCACTGGTGTTCTTGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAA...
Task1_train_12734	A mutation found in LOC130001683, GALT (ATAC-STARR-seq lymphoblastoid active region 28314\| galactose-1-phosphate uridylyltransferase) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?	Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	TCCACTGAAGCCTCAGAGGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAG...	TCCACTGAAGCCTCAGAGGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAG...
Task1_train_12735	This is a variant in GALT, LOC130001683 (galactose-1-phosphate uridylyltransferase\| ATAC-STARR-seq lymphoblastoid active region 28314), located on Chromosome 9. Is this mutation a likely cause of disease or not?	Pathogenic; not provided	TGAAGCCTCAGAGGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGA...	TGAAGCCTCAGAGGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGA...
Task1_train_12736	This sequence variant lies in GALT, LOC130001683 (galactose-1-phosphate uridylyltransferase\| ATAC-STARR-seq lymphoblastoid active region 28314) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?	Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATC...	GGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATC...
Task1_train_12737	A mutation found in GALT, LOC130001683 (galactose-1-phosphate uridylyltransferase\| ATAC-STARR-seq lymphoblastoid active region 28314) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?	Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	CACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGG...	CACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGG...
Task1_train_12738	This sequence change occurs on Chromosome 9, altering GALT, LOC130001683 (galactose-1-phosphate uridylyltransferase\| ATAC-STARR-seq lymphoblastoid active region 28314). What is the medical significance of this variant — is it benign or linked to a disease?	Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAG...	GGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAG...
Task1_train_12739	A variant was discovered in gene GALT (galactose-1-phosphate uridylyltransferase), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.	Pathogenic; not specified	GCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTG...	GCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTG...