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_24800
|
This variant affects gene MAPT (microtubule associated protein tau) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Progressive supranuclear palsy-parkinsonism syndrome
|
GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
|
GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAAGAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
|
Task1_train_24801
|
Gene MAPT (microtubule associated protein tau) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Frontotemporal dementia
|
TTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGAT
|
TTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCTCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGAT
|
Task1_train_24802
|
This sequence change occurs on Chromosome 17, altering MAPT (microtubule associated protein tau). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Frontotemporal dementia
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCTGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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Task1_train_24803
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A mutation on Chromosome 17 affecting MAPT (microtubule associated protein tau) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Pick disease
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCTGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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Task1_train_24804
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Located on Chromosome 17, this mutation impacts MAPT (microtubule associated protein tau). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Parkinson disease, late-onset
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCTGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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Task1_train_24805
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A genetic alteration is present in MAPT (microtubule associated protein tau) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Progressive supranuclear palsy-parkinsonism syndrome
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCTGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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Task1_train_24806
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This alteration occurs within gene MAPT (microtubule associated protein tau) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; Supranuclear palsy, progressive, 1
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCTGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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Task1_train_24807
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This variant affects the gene MAPT (microtubule associated protein tau) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Frontotemporal dementia
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCTGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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Task1_train_24808
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A mutation found in MAPT (microtubule associated protein tau) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Pick disease
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCTGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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Task1_train_24809
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With a mutation on Chromosome 17 in gene MAPT (microtubule associated protein tau), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Parkinson disease, late-onset
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCTGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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Task1_train_24810
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This sequence variant lies in MAPT (microtubule associated protein tau) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Progressive supranuclear palsy-parkinsonism syndrome
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCTGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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Task1_train_24811
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Here is a mutation in MAPT (microtubule associated protein tau) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Progressive supranuclear ophthalmoplegia
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCTGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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Task1_train_24812
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Chromosome 17 houses a mutation in gene MAPT (microtubule associated protein tau). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Frontotemporal dementia
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCTGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATG
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Task1_train_24813
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Given this variant in gene MAPT (microtubule associated protein tau) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Supranuclear palsy, progressive, 1
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CCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGG
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CCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGTCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGG
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Task1_train_24814
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A change on Chromosome 17 affects gene MAPT (microtubule associated protein tau). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Frontotemporal dementia
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GTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAG
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GTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAATGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAG
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Task1_train_24815
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This alteration occurs within gene MAPT (microtubule associated protein tau) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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GCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAGCACTGCCCTCTGAGCACCTTCACAGGAAGCCCTTCTCCTGGTGAGAAGAGATGCCAGCCCCTGGCATCTGGGGGCACTGGATCCCTGGCCTGAGCCCTAGCCTCTCCCCAGCCTGGGGGCCCCTTCCCAGCAGGCTGGCCCTGCTCCTTCTCTACCTGGGACCCTTCTGCCTCCTGGCTGGACCCTGGAAGCTCTGCAGGGCCTGCTGTCCCCCTCCCTGCCCTCCAGGTATCCTGACCACCGGCCCTGGCTCCCACTGCCATCCACTCCTCTCCTTTCTGGCCGTTCCCTGGTCCCTGTCCCAGCCCCCCTCCCCCTCTCACGAGTTACCTCACCCAGGCCAGAGGGAAGAGGGAAGGAGGCCCTGGTCATACCAGCACGTCCTCCCACCTCCCTCGGCCCTGGTCCACCCCCTCAGTGCTGGCCTCAGAGCACAGCTCTCTCCAAGCCAGGCCGCGCGCCATCCATCCTCCCTGTCCCCCAACGTCCTTGCCACAGATCATGTCCGCCCTGACACACATGGGTCTCAGCCATCTCTGCCCCAGTTAACTCCCCATCCATAAAGAGCACATGCCAGCTGACACCAAAATAATTCGGGATGGTTCCAGTTTAGACCTAAGTGGAAGGAGAAACCACCACCTGCCCTGCACCTTGTTTTTTGGTGACCTTGATAAACCATCTTCAGCCATGAAGCCAGCTGTCTCCCAGGAAGCTCCAGGGCGGTGCTTCCTCGGGAGCTGACTGATAGGTGGGAGGTGGCTGCCCCCTTGCACCCTCAGGTGACCCCACACAAGGCCACTGCTGGAGGCCCTGGGGACTCCAGGAATGTCAATCAGTGACCTGCCCCCCAGGCCCCACACAGCCATGGCTGCATAGAGGCCTGCCTCCAAGGGACCTGTCTGTCTGCCACTGTGGAGTCCCTACAGCGTGCCCCCCACAGGGGAGCTGGTTCTTTGACTGAGATCAGCTGGCAGCTCAGGGTCATCATTCCCAGAGGGAGCGGTGCCCTGGAGGCCACAGGCCTCCTCATGTGTGTCTGCGTCCGCTCGAGCTTACTGAGACACTAAATCTGTTGGTTTCTGCTGTGCCACCTACCCACCCTGTTGGTGTTGCTTTGTTCCTATTGCTAAAGACAGGAATGTCCAGGACACTGAGTGTGCAGGTGCCTGCTGGTTCTCACGTCCGAGCTGCTGAACTCCGCTGGGTCCTGCTTACTGATGGTCTTTGCTCTAGTGCTTTCCAGGGTCCGTGGAAGCTTTTCCTGGAATAAAGCCCACGCATCGACCCTCACAGCGCCTCCCCTCTTTGAGGCCCAGCAGATACCCCACTCCTGCCTTTCCAGCAAGATTTTTCAGATGCTGTGCATACTCATCATATTGATCACTTTTTTCTTCATGCCTGATTGTGATCTGTCAATTTCATGTCAGGAAAGGGAGTGACATTTTTACACTTAAGCGTTTGCTGAGCAAATGTCTGGGTCTTGCACAATGACAATGGGTCCCTGTTTTTCCCAGAGGCTCTTTTGTTCTGCAGGGATTGAAGACACTCCAGTCCCACAGTCCCCAGCTCCCCTGGGGCAGGGTTGGCAGAATTTCGACAACACATTTTTCCACCCTGACTAGGATGTGCTCCTCATGGCAGCTGGGAACCACTGTCCAATAAGGGCCTGGGCTTACACAGCTGCTTCTCATTGAGTTACACCCTTAATAAAATAATCCCATTTTATCCTTTTTGTCTCTCTGTCTTCCTCTCTCTCTGCCTTTCCTCTTCTCTCTCCTCCTCTCTCATCTCCAGGTGCAAATAGTCTACAAACCAGTTGACCTGAGCAAGGTGACCTCCAAGTGTGGCTCATTAGGCAACATCCATCATAAACCAGGTAGCCCTGTGGAAGGTGAGGGTTGGGACGGGAGGGTGCAGGGGGTGGAGGAGTCCTGGTGAGGCTGGAACTGCTCCAGACTTCAGAAGGGGCTGGAAAGGATATTTTAGGTAGACCTACATCAAGGAAAGTGTTGAGTGTGAAACTTGCGGGAGCCCAGGAGGCGTGGTGGCTCCAGCTCGCTCCTGCCCAGGCCATGCTGCCCAAGACAAGGTGAGGCGGGAGTGAAGTGAAATAAGGCAGGCACAGAAAGAAAGCACATATTCTCGGCCGGGCGCTGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAAAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAGCACATGTTCTCGCTTCTTTGTGGGATCCAGGAGATAGAGAATAGAAGGATGGTTACCAGAGGCTGGGAAGGGTAGTGAGGGGATGGTGGGGGGATGGTCAATGGGTACAAAAAAAATAGAATAAGACCTAGTATTTGATAGTGCAACAGGGTGACTATAGTCAATAATAATTTAATTGTACATTTAAAAATAACTAAAAGATAGCCGGGTGCAGTGGCTTACGTCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGTGACAGTGAAACTCCGTCTCAAAAATAAAAATAAAAATACAGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCGGATCACAAGGTCAGGAGATATAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTATAGTCCCAGCTACTCACAAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGAGAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAAAACAAACACACAACAAAAACCTAAAAGAATATAAATGGATTGTTTGTAACACAAAGGACAAATGTTTGAGGGGATGGATACCCCATTTTCCATGATGTGATTATTATACATTGTGTGTCTGTATCAAAACATCTCATGAGCCCCATAAATATATACACCTAACTATGTACCCACAAAAATTAAAAAAATATATTTTTTAAGGTGAAGAGGGAGGCGAGATGCTGGCCTTAACCCCTAACCCGTTGTTCTCCCTGCAAGCTGTCCACAGGGCCTCTCAGACTCGAGGTTCAGCTATATGGATGCATGAGCTTGGTCCCCAGCCAACATGGGAGACACTTCACCATCGGCAGCAGCTACAGCACAGGAACCCTGGGTCACTGCCATGTCCCCTCTGTGACTTTGTTTAAACAGAAAATGATGCTCTGGGCCGGCTGTGGTGGCCCACACCTATAATCCCAGCACCTTGGGAGGCGGGGGTGGGCAGATTGCCTGAGGTCAGGAGTTGGAGATCAGCCTGGCCGACATGGCGAAACCCCATGTCTACTAAAAATACAAAAACTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCCAG
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GCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAGCACTGCCCTCTGAGCACCTTCACAGGAAGCCCTTCTCCTGGTGAGAAGAGATGCCAGCCCCTGGCATCTGGGGGCACTGGATCCCTGGCCTGAGCCCTAGCCTCTCCCCAGCCTGGGGGCCCCTTCCCAGCAGGCTGGCCCTGCTCCTTCTCTACCTGGGACCCTTCTGCCTCCTGGCTGGACCCTGGAAGCTCTGCAGGGCCTGCTGTCCCCCTCCCTGCCCTCCAGGTATCCTGACCACCGGCCCTGGCTCCCACTGCCATCCACTCCTCTCCTTTCTGGCCGTTCCCTGGTCCCTGTCCCAGCCCCCCTCCCCCTCTCACGAGTTACCTCACCCAGGCCAGAGGGAAGAGGGAAGGAGGCCCTGGTCATACCAGCACGTCCTCCCACCTCCCTCGGCCCTGGTCCACCCCCTCAGTGCTGGCCTCAGAGCACAGCTCTCTCCAAGCCAGGCCGCGCGCCATCCATCCTCCCTGTCCCCCAACGTCCTTGCCACAGATCATGTCCGCCCTGACACACATGGGTCTCAGCCATCTCTGCCCCAGTTAACTCCCCATCCATAAAGAGCACATGCCAGCTGACACCAAAATAATTCGGGATGGTTCCAGTTTAGACCTAAGTGGAAGGAGAAACCACCACCTGCCCTGCACCTTGTTTTTTGGTGACCTTGATAAACCATCTTCAGCCATGAAGCCAGCTGTCTCCCAGGAAGCTCCAGGGCGGTGCTTCCTCGGGAGCTGACTGATAGGTGGGAGGTGGCTGCCCCCTTGCACCCTCAGGTGACCCCACACAAGGCCACTGCTGGAGGCCCTGGGGACTCCAGGAATGTCAATCAGTGACCTGCCCCCCAGGCCCCACACAGCCATGGCTGCATAGAGGCCTGCCTCCAAGGGACCTGTCTGTCTGCCACTGTGGAGTCCCTACAGCGTGCCCCCCACAGGGGAGCTGGTTCTTTGACTGAGATCAGCTGGCAGCTCAGGGTCATCATTCCCAGAGGGAGCGGTGCCCTGGAGGCCACAGGCCTCCTCATGTGTGTCTGCGTCCGCTCGAGCTTACTGAGACACTAAATCTGTTGGTTTCTGCTGTGCCACCTACCCACCCTGTTGGTGTTGCTTTGTTCCTATTGCTAAAGACAGGAATGTCCAGGACACTGAGTGTGCAGGTGCCTGCTGGTTCTCACGTCCGAGCTGCTGAACTCCGCTGGGTCCTGCTTACTGATGGTCTTTGCTCTAGTGCTTTCCAGGGTCCGTGGAAGCTTTTCCTGGAATAAAGCCCACGCATCGACCCTCACAGCGCCTCCCCTCTTTGAGGCCCAGCAGATACCCCACTCCTGCCTTTCCAGCAAGATTTTTCAGATGCTGTGCATACTCATCATATTGATCACTTTTTTCTTCATGCCTGATTGTGATCTGTCAATTTCATGTCAGGAAAGGGAGTGACATTTTTACACTTAAGCGTTTGCTGAGCAAATGTCTGGGTCTTGCACAATGACAATGGGTCCCTGTTTTTCCCAGAGGCTCTTTTGTTCTGCAGGGATTGAAGACACTCCAGTCCCACAGTCCCCAGCTCCCCTGGGGCAGGGTTGGCAGAATTTCGACAACACATTTTTCCACCCTGACTAGGATGTGCTCCTCATGGCAGCTGGGAACCACTGTCCAATAAGGGCCTGGGCTTACACAGCTGCTTCTCATTGAGTTACACCCTTAATAAAATAATCCCATTTTATCCTTTTTGTCTCTCTGTCTTCCTCTCTCTCTGCCTTTCCTCTTCTCTCTCCTCCTCTCTCATCTCCAGGTGCAAATAGTCTACAAACCAGTTGACCGGAGCAAGGTGACCTCCAAGTGTGGCTCATTAGGCAACATCCATCATAAACCAGGTAGCCCTGTGGAAGGTGAGGGTTGGGACGGGAGGGTGCAGGGGGTGGAGGAGTCCTGGTGAGGCTGGAACTGCTCCAGACTTCAGAAGGGGCTGGAAAGGATATTTTAGGTAGACCTACATCAAGGAAAGTGTTGAGTGTGAAACTTGCGGGAGCCCAGGAGGCGTGGTGGCTCCAGCTCGCTCCTGCCCAGGCCATGCTGCCCAAGACAAGGTGAGGCGGGAGTGAAGTGAAATAAGGCAGGCACAGAAAGAAAGCACATATTCTCGGCCGGGCGCTGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAAAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAGCACATGTTCTCGCTTCTTTGTGGGATCCAGGAGATAGAGAATAGAAGGATGGTTACCAGAGGCTGGGAAGGGTAGTGAGGGGATGGTGGGGGGATGGTCAATGGGTACAAAAAAAATAGAATAAGACCTAGTATTTGATAGTGCAACAGGGTGACTATAGTCAATAATAATTTAATTGTACATTTAAAAATAACTAAAAGATAGCCGGGTGCAGTGGCTTACGTCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGTGACAGTGAAACTCCGTCTCAAAAATAAAAATAAAAATACAGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCGGATCACAAGGTCAGGAGATATAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTATAGTCCCAGCTACTCACAAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGAGAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAAAACAAACACACAACAAAAACCTAAAAGAATATAAATGGATTGTTTGTAACACAAAGGACAAATGTTTGAGGGGATGGATACCCCATTTTCCATGATGTGATTATTATACATTGTGTGTCTGTATCAAAACATCTCATGAGCCCCATAAATATATACACCTAACTATGTACCCACAAAAATTAAAAAAATATATTTTTTAAGGTGAAGAGGGAGGCGAGATGCTGGCCTTAACCCCTAACCCGTTGTTCTCCCTGCAAGCTGTCCACAGGGCCTCTCAGACTCGAGGTTCAGCTATATGGATGCATGAGCTTGGTCCCCAGCCAACATGGGAGACACTTCACCATCGGCAGCAGCTACAGCACAGGAACCCTGGGTCACTGCCATGTCCCCTCTGTGACTTTGTTTAAACAGAAAATGATGCTCTGGGCCGGCTGTGGTGGCCCACACCTATAATCCCAGCACCTTGGGAGGCGGGGGTGGGCAGATTGCCTGAGGTCAGGAGTTGGAGATCAGCCTGGCCGACATGGCGAAACCCCATGTCTACTAAAAATACAAAAACTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCCAG
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Task1_train_24816
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A genomic change on Chromosome 17 affects MAPT (microtubule associated protein tau). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Frontotemporal dementia
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TGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAGCACTGCCCTCTGAGCACCTTCACAGGAAGCCCTTCTCCTGGTGAGAAGAGATGCCAGCCCCTGGCATCTGGGGGCACTGGATCCCTGGCCTGAGCCCTAGCCTCTCCCCAGCCTGGGGGCCCCTTCCCAGCAGGCTGGCCCTGCTCCTTCTCTACCTGGGACCCTTCTGCCTCCTGGCTGGACCCTGGAAGCTCTGCAGGGCCTGCTGTCCCCCTCCCTGCCCTCCAGGTATCCTGACCACCGGCCCTGGCTCCCACTGCCATCCACTCCTCTCCTTTCTGGCCGTTCCCTGGTCCCTGTCCCAGCCCCCCTCCCCCTCTCACGAGTTACCTCACCCAGGCCAGAGGGAAGAGGGAAGGAGGCCCTGGTCATACCAGCACGTCCTCCCACCTCCCTCGGCCCTGGTCCACCCCCTCAGTGCTGGCCTCAGAGCACAGCTCTCTCCAAGCCAGGCCGCGCGCCATCCATCCTCCCTGTCCCCCAACGTCCTTGCCACAGATCATGTCCGCCCTGACACACATGGGTCTCAGCCATCTCTGCCCCAGTTAACTCCCCATCCATAAAGAGCACATGCCAGCTGACACCAAAATAATTCGGGATGGTTCCAGTTTAGACCTAAGTGGAAGGAGAAACCACCACCTGCCCTGCACCTTGTTTTTTGGTGACCTTGATAAACCATCTTCAGCCATGAAGCCAGCTGTCTCCCAGGAAGCTCCAGGGCGGTGCTTCCTCGGGAGCTGACTGATAGGTGGGAGGTGGCTGCCCCCTTGCACCCTCAGGTGACCCCACACAAGGCCACTGCTGGAGGCCCTGGGGACTCCAGGAATGTCAATCAGTGACCTGCCCCCCAGGCCCCACACAGCCATGGCTGCATAGAGGCCTGCCTCCAAGGGACCTGTCTGTCTGCCACTGTGGAGTCCCTACAGCGTGCCCCCCACAGGGGAGCTGGTTCTTTGACTGAGATCAGCTGGCAGCTCAGGGTCATCATTCCCAGAGGGAGCGGTGCCCTGGAGGCCACAGGCCTCCTCATGTGTGTCTGCGTCCGCTCGAGCTTACTGAGACACTAAATCTGTTGGTTTCTGCTGTGCCACCTACCCACCCTGTTGGTGTTGCTTTGTTCCTATTGCTAAAGACAGGAATGTCCAGGACACTGAGTGTGCAGGTGCCTGCTGGTTCTCACGTCCGAGCTGCTGAACTCCGCTGGGTCCTGCTTACTGATGGTCTTTGCTCTAGTGCTTTCCAGGGTCCGTGGAAGCTTTTCCTGGAATAAAGCCCACGCATCGACCCTCACAGCGCCTCCCCTCTTTGAGGCCCAGCAGATACCCCACTCCTGCCTTTCCAGCAAGATTTTTCAGATGCTGTGCATACTCATCATATTGATCACTTTTTTCTTCATGCCTGATTGTGATCTGTCAATTTCATGTCAGGAAAGGGAGTGACATTTTTACACTTAAGCGTTTGCTGAGCAAATGTCTGGGTCTTGCACAATGACAATGGGTCCCTGTTTTTCCCAGAGGCTCTTTTGTTCTGCAGGGATTGAAGACACTCCAGTCCCACAGTCCCCAGCTCCCCTGGGGCAGGGTTGGCAGAATTTCGACAACACATTTTTCCACCCTGACTAGGATGTGCTCCTCATGGCAGCTGGGAACCACTGTCCAATAAGGGCCTGGGCTTACACAGCTGCTTCTCATTGAGTTACACCCTTAATAAAATAATCCCATTTTATCCTTTTTGTCTCTCTGTCTTCCTCTCTCTCTGCCTTTCCTCTTCTCTCTCCTCCTCTCTCATCTCCAGGTGCAAATAGTCTACAAACCAGTTGACCTGAGCAAGGTGACCTCCAAGTGTGGCTCATTAGGCAACATCCATCATAAACCAGGTAGCCCTGTGGAAGGTGAGGGTTGGGACGGGAGGGTGCAGGGGGTGGAGGAGTCCTGGTGAGGCTGGAACTGCTCCAGACTTCAGAAGGGGCTGGAAAGGATATTTTAGGTAGACCTACATCAAGGAAAGTGTTGAGTGTGAAACTTGCGGGAGCCCAGGAGGCGTGGTGGCTCCAGCTCGCTCCTGCCCAGGCCATGCTGCCCAAGACAAGGTGAGGCGGGAGTGAAGTGAAATAAGGCAGGCACAGAAAGAAAGCACATATTCTCGGCCGGGCGCTGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAAAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAGCACATGTTCTCGCTTCTTTGTGGGATCCAGGAGATAGAGAATAGAAGGATGGTTACCAGAGGCTGGGAAGGGTAGTGAGGGGATGGTGGGGGGATGGTCAATGGGTACAAAAAAAATAGAATAAGACCTAGTATTTGATAGTGCAACAGGGTGACTATAGTCAATAATAATTTAATTGTACATTTAAAAATAACTAAAAGATAGCCGGGTGCAGTGGCTTACGTCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGTGACAGTGAAACTCCGTCTCAAAAATAAAAATAAAAATACAGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCGGATCACAAGGTCAGGAGATATAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTATAGTCCCAGCTACTCACAAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGAGAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAAAACAAACACACAACAAAAACCTAAAAGAATATAAATGGATTGTTTGTAACACAAAGGACAAATGTTTGAGGGGATGGATACCCCATTTTCCATGATGTGATTATTATACATTGTGTGTCTGTATCAAAACATCTCATGAGCCCCATAAATATATACACCTAACTATGTACCCACAAAAATTAAAAAAATATATTTTTTAAGGTGAAGAGGGAGGCGAGATGCTGGCCTTAACCCCTAACCCGTTGTTCTCCCTGCAAGCTGTCCACAGGGCCTCTCAGACTCGAGGTTCAGCTATATGGATGCATGAGCTTGGTCCCCAGCCAACATGGGAGACACTTCACCATCGGCAGCAGCTACAGCACAGGAACCCTGGGTCACTGCCATGTCCCCTCTGTGACTTTGTTTAAACAGAAAATGATGCTCTGGGCCGGCTGTGGTGGCCCACACCTATAATCCCAGCACCTTGGGAGGCGGGGGTGGGCAGATTGCCTGAGGTCAGGAGTTGGAGATCAGCCTGGCCGACATGGCGAAACCCCATGTCTACTAAAAATACAAAAACTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCCAGGAGGCA
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TGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAGCACTGCCCTCTGAGCACCTTCACAGGAAGCCCTTCTCCTGGTGAGAAGAGATGCCAGCCCCTGGCATCTGGGGGCACTGGATCCCTGGCCTGAGCCCTAGCCTCTCCCCAGCCTGGGGGCCCCTTCCCAGCAGGCTGGCCCTGCTCCTTCTCTACCTGGGACCCTTCTGCCTCCTGGCTGGACCCTGGAAGCTCTGCAGGGCCTGCTGTCCCCCTCCCTGCCCTCCAGGTATCCTGACCACCGGCCCTGGCTCCCACTGCCATCCACTCCTCTCCTTTCTGGCCGTTCCCTGGTCCCTGTCCCAGCCCCCCTCCCCCTCTCACGAGTTACCTCACCCAGGCCAGAGGGAAGAGGGAAGGAGGCCCTGGTCATACCAGCACGTCCTCCCACCTCCCTCGGCCCTGGTCCACCCCCTCAGTGCTGGCCTCAGAGCACAGCTCTCTCCAAGCCAGGCCGCGCGCCATCCATCCTCCCTGTCCCCCAACGTCCTTGCCACAGATCATGTCCGCCCTGACACACATGGGTCTCAGCCATCTCTGCCCCAGTTAACTCCCCATCCATAAAGAGCACATGCCAGCTGACACCAAAATAATTCGGGATGGTTCCAGTTTAGACCTAAGTGGAAGGAGAAACCACCACCTGCCCTGCACCTTGTTTTTTGGTGACCTTGATAAACCATCTTCAGCCATGAAGCCAGCTGTCTCCCAGGAAGCTCCAGGGCGGTGCTTCCTCGGGAGCTGACTGATAGGTGGGAGGTGGCTGCCCCCTTGCACCCTCAGGTGACCCCACACAAGGCCACTGCTGGAGGCCCTGGGGACTCCAGGAATGTCAATCAGTGACCTGCCCCCCAGGCCCCACACAGCCATGGCTGCATAGAGGCCTGCCTCCAAGGGACCTGTCTGTCTGCCACTGTGGAGTCCCTACAGCGTGCCCCCCACAGGGGAGCTGGTTCTTTGACTGAGATCAGCTGGCAGCTCAGGGTCATCATTCCCAGAGGGAGCGGTGCCCTGGAGGCCACAGGCCTCCTCATGTGTGTCTGCGTCCGCTCGAGCTTACTGAGACACTAAATCTGTTGGTTTCTGCTGTGCCACCTACCCACCCTGTTGGTGTTGCTTTGTTCCTATTGCTAAAGACAGGAATGTCCAGGACACTGAGTGTGCAGGTGCCTGCTGGTTCTCACGTCCGAGCTGCTGAACTCCGCTGGGTCCTGCTTACTGATGGTCTTTGCTCTAGTGCTTTCCAGGGTCCGTGGAAGCTTTTCCTGGAATAAAGCCCACGCATCGACCCTCACAGCGCCTCCCCTCTTTGAGGCCCAGCAGATACCCCACTCCTGCCTTTCCAGCAAGATTTTTCAGATGCTGTGCATACTCATCATATTGATCACTTTTTTCTTCATGCCTGATTGTGATCTGTCAATTTCATGTCAGGAAAGGGAGTGACATTTTTACACTTAAGCGTTTGCTGAGCAAATGTCTGGGTCTTGCACAATGACAATGGGTCCCTGTTTTTCCCAGAGGCTCTTTTGTTCTGCAGGGATTGAAGACACTCCAGTCCCACAGTCCCCAGCTCCCCTGGGGCAGGGTTGGCAGAATTTCGACAACACATTTTTCCACCCTGACTAGGATGTGCTCCTCATGGCAGCTGGGAACCACTGTCCAATAAGGGCCTGGGCTTACACAGCTGCTTCTCATTGAGTTACACCCTTAATAAAATAATCCCATTTTATCCTTTTTGTCTCTCTGTCTTCCTCTCTCTCTGCCTTTCCTCTTCTCTCTCCTCCTCTCTCATCTCCAGGTGCAAATAGTCTACAAACCAGTTGACCTGAGCATGGTGACCTCCAAGTGTGGCTCATTAGGCAACATCCATCATAAACCAGGTAGCCCTGTGGAAGGTGAGGGTTGGGACGGGAGGGTGCAGGGGGTGGAGGAGTCCTGGTGAGGCTGGAACTGCTCCAGACTTCAGAAGGGGCTGGAAAGGATATTTTAGGTAGACCTACATCAAGGAAAGTGTTGAGTGTGAAACTTGCGGGAGCCCAGGAGGCGTGGTGGCTCCAGCTCGCTCCTGCCCAGGCCATGCTGCCCAAGACAAGGTGAGGCGGGAGTGAAGTGAAATAAGGCAGGCACAGAAAGAAAGCACATATTCTCGGCCGGGCGCTGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAAAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAGCACATGTTCTCGCTTCTTTGTGGGATCCAGGAGATAGAGAATAGAAGGATGGTTACCAGAGGCTGGGAAGGGTAGTGAGGGGATGGTGGGGGGATGGTCAATGGGTACAAAAAAAATAGAATAAGACCTAGTATTTGATAGTGCAACAGGGTGACTATAGTCAATAATAATTTAATTGTACATTTAAAAATAACTAAAAGATAGCCGGGTGCAGTGGCTTACGTCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGTGACAGTGAAACTCCGTCTCAAAAATAAAAATAAAAATACAGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCGGATCACAAGGTCAGGAGATATAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTATAGTCCCAGCTACTCACAAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGAGAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAAAACAAACACACAACAAAAACCTAAAAGAATATAAATGGATTGTTTGTAACACAAAGGACAAATGTTTGAGGGGATGGATACCCCATTTTCCATGATGTGATTATTATACATTGTGTGTCTGTATCAAAACATCTCATGAGCCCCATAAATATATACACCTAACTATGTACCCACAAAAATTAAAAAAATATATTTTTTAAGGTGAAGAGGGAGGCGAGATGCTGGCCTTAACCCCTAACCCGTTGTTCTCCCTGCAAGCTGTCCACAGGGCCTCTCAGACTCGAGGTTCAGCTATATGGATGCATGAGCTTGGTCCCCAGCCAACATGGGAGACACTTCACCATCGGCAGCAGCTACAGCACAGGAACCCTGGGTCACTGCCATGTCCCCTCTGTGACTTTGTTTAAACAGAAAATGATGCTCTGGGCCGGCTGTGGTGGCCCACACCTATAATCCCAGCACCTTGGGAGGCGGGGGTGGGCAGATTGCCTGAGGTCAGGAGTTGGAGATCAGCCTGGCCGACATGGCGAAACCCCATGTCTACTAAAAATACAAAAACTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCCAGGAGGCA
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Task1_train_24817
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The gene MAPT (microtubule associated protein tau), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Frontotemporal dementia
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CCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAGCACTGCCCTCTGAGCACCTTCACAGGAAGCCCTTCTCCTGGTGAGAAGAGATGCCAGCCCCTGGCATCTGGGGGCACTGGATCCCTGGCCTGAGCCCTAGCCTCTCCCCAGCCTGGGGGCCCCTTCCCAGCAGGCTGGCCCTGCTCCTTCTCTACCTGGGACCCTTCTGCCTCCTGGCTGGACCCTGGAAGCTCTGCAGGGCCTGCTGTCCCCCTCCCTGCCCTCCAGGTATCCTGACCACCGGCCCTGGCTCCCACTGCCATCCACTCCTCTCCTTTCTGGCCGTTCCCTGGTCCCTGTCCCAGCCCCCCTCCCCCTCTCACGAGTTACCTCACCCAGGCCAGAGGGAAGAGGGAAGGAGGCCCTGGTCATACCAGCACGTCCTCCCACCTCCCTCGGCCCTGGTCCACCCCCTCAGTGCTGGCCTCAGAGCACAGCTCTCTCCAAGCCAGGCCGCGCGCCATCCATCCTCCCTGTCCCCCAACGTCCTTGCCACAGATCATGTCCGCCCTGACACACATGGGTCTCAGCCATCTCTGCCCCAGTTAACTCCCCATCCATAAAGAGCACATGCCAGCTGACACCAAAATAATTCGGGATGGTTCCAGTTTAGACCTAAGTGGAAGGAGAAACCACCACCTGCCCTGCACCTTGTTTTTTGGTGACCTTGATAAACCATCTTCAGCCATGAAGCCAGCTGTCTCCCAGGAAGCTCCAGGGCGGTGCTTCCTCGGGAGCTGACTGATAGGTGGGAGGTGGCTGCCCCCTTGCACCCTCAGGTGACCCCACACAAGGCCACTGCTGGAGGCCCTGGGGACTCCAGGAATGTCAATCAGTGACCTGCCCCCCAGGCCCCACACAGCCATGGCTGCATAGAGGCCTGCCTCCAAGGGACCTGTCTGTCTGCCACTGTGGAGTCCCTACAGCGTGCCCCCCACAGGGGAGCTGGTTCTTTGACTGAGATCAGCTGGCAGCTCAGGGTCATCATTCCCAGAGGGAGCGGTGCCCTGGAGGCCACAGGCCTCCTCATGTGTGTCTGCGTCCGCTCGAGCTTACTGAGACACTAAATCTGTTGGTTTCTGCTGTGCCACCTACCCACCCTGTTGGTGTTGCTTTGTTCCTATTGCTAAAGACAGGAATGTCCAGGACACTGAGTGTGCAGGTGCCTGCTGGTTCTCACGTCCGAGCTGCTGAACTCCGCTGGGTCCTGCTTACTGATGGTCTTTGCTCTAGTGCTTTCCAGGGTCCGTGGAAGCTTTTCCTGGAATAAAGCCCACGCATCGACCCTCACAGCGCCTCCCCTCTTTGAGGCCCAGCAGATACCCCACTCCTGCCTTTCCAGCAAGATTTTTCAGATGCTGTGCATACTCATCATATTGATCACTTTTTTCTTCATGCCTGATTGTGATCTGTCAATTTCATGTCAGGAAAGGGAGTGACATTTTTACACTTAAGCGTTTGCTGAGCAAATGTCTGGGTCTTGCACAATGACAATGGGTCCCTGTTTTTCCCAGAGGCTCTTTTGTTCTGCAGGGATTGAAGACACTCCAGTCCCACAGTCCCCAGCTCCCCTGGGGCAGGGTTGGCAGAATTTCGACAACACATTTTTCCACCCTGACTAGGATGTGCTCCTCATGGCAGCTGGGAACCACTGTCCAATAAGGGCCTGGGCTTACACAGCTGCTTCTCATTGAGTTACACCCTTAATAAAATAATCCCATTTTATCCTTTTTGTCTCTCTGTCTTCCTCTCTCTCTGCCTTTCCTCTTCTCTCTCCTCCTCTCTCATCTCCAGGTGCAAATAGTCTACAAACCAGTTGACCTGAGCAAGGTGACCTCCAAGTGTGGCTCATTAGGCAACATCCATCATAAACCAGGTAGCCCTGTGGAAGGTGAGGGTTGGGACGGGAGGGTGCAGGGGGTGGAGGAGTCCTGGTGAGGCTGGAACTGCTCCAGACTTCAGAAGGGGCTGGAAAGGATATTTTAGGTAGACCTACATCAAGGAAAGTGTTGAGTGTGAAACTTGCGGGAGCCCAGGAGGCGTGGTGGCTCCAGCTCGCTCCTGCCCAGGCCATGCTGCCCAAGACAAGGTGAGGCGGGAGTGAAGTGAAATAAGGCAGGCACAGAAAGAAAGCACATATTCTCGGCCGGGCGCTGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAAAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAGCACATGTTCTCGCTTCTTTGTGGGATCCAGGAGATAGAGAATAGAAGGATGGTTACCAGAGGCTGGGAAGGGTAGTGAGGGGATGGTGGGGGGATGGTCAATGGGTACAAAAAAAATAGAATAAGACCTAGTATTTGATAGTGCAACAGGGTGACTATAGTCAATAATAATTTAATTGTACATTTAAAAATAACTAAAAGATAGCCGGGTGCAGTGGCTTACGTCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGTGACAGTGAAACTCCGTCTCAAAAATAAAAATAAAAATACAGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCGGATCACAAGGTCAGGAGATATAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTATAGTCCCAGCTACTCACAAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGAGAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAAAACAAACACACAACAAAAACCTAAAAGAATATAAATGGATTGTTTGTAACACAAAGGACAAATGTTTGAGGGGATGGATACCCCATTTTCCATGATGTGATTATTATACATTGTGTGTCTGTATCAAAACATCTCATGAGCCCCATAAATATATACACCTAACTATGTACCCACAAAAATTAAAAAAATATATTTTTTAAGGTGAAGAGGGAGGCGAGATGCTGGCCTTAACCCCTAACCCGTTGTTCTCCCTGCAAGCTGTCCACAGGGCCTCTCAGACTCGAGGTTCAGCTATATGGATGCATGAGCTTGGTCCCCAGCCAACATGGGAGACACTTCACCATCGGCAGCAGCTACAGCACAGGAACCCTGGGTCACTGCCATGTCCCCTCTGTGACTTTGTTTAAACAGAAAATGATGCTCTGGGCCGGCTGTGGTGGCCCACACCTATAATCCCAGCACCTTGGGAGGCGGGGGTGGGCAGATTGCCTGAGGTCAGGAGTTGGAGATCAGCCTGGCCGACATGGCGAAACCCCATGTCTACTAAAAATACAAAAACTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGAG
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CCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAGCACTGCCCTCTGAGCACCTTCACAGGAAGCCCTTCTCCTGGTGAGAAGAGATGCCAGCCCCTGGCATCTGGGGGCACTGGATCCCTGGCCTGAGCCCTAGCCTCTCCCCAGCCTGGGGGCCCCTTCCCAGCAGGCTGGCCCTGCTCCTTCTCTACCTGGGACCCTTCTGCCTCCTGGCTGGACCCTGGAAGCTCTGCAGGGCCTGCTGTCCCCCTCCCTGCCCTCCAGGTATCCTGACCACCGGCCCTGGCTCCCACTGCCATCCACTCCTCTCCTTTCTGGCCGTTCCCTGGTCCCTGTCCCAGCCCCCCTCCCCCTCTCACGAGTTACCTCACCCAGGCCAGAGGGAAGAGGGAAGGAGGCCCTGGTCATACCAGCACGTCCTCCCACCTCCCTCGGCCCTGGTCCACCCCCTCAGTGCTGGCCTCAGAGCACAGCTCTCTCCAAGCCAGGCCGCGCGCCATCCATCCTCCCTGTCCCCCAACGTCCTTGCCACAGATCATGTCCGCCCTGACACACATGGGTCTCAGCCATCTCTGCCCCAGTTAACTCCCCATCCATAAAGAGCACATGCCAGCTGACACCAAAATAATTCGGGATGGTTCCAGTTTAGACCTAAGTGGAAGGAGAAACCACCACCTGCCCTGCACCTTGTTTTTTGGTGACCTTGATAAACCATCTTCAGCCATGAAGCCAGCTGTCTCCCAGGAAGCTCCAGGGCGGTGCTTCCTCGGGAGCTGACTGATAGGTGGGAGGTGGCTGCCCCCTTGCACCCTCAGGTGACCCCACACAAGGCCACTGCTGGAGGCCCTGGGGACTCCAGGAATGTCAATCAGTGACCTGCCCCCCAGGCCCCACACAGCCATGGCTGCATAGAGGCCTGCCTCCAAGGGACCTGTCTGTCTGCCACTGTGGAGTCCCTACAGCGTGCCCCCCACAGGGGAGCTGGTTCTTTGACTGAGATCAGCTGGCAGCTCAGGGTCATCATTCCCAGAGGGAGCGGTGCCCTGGAGGCCACAGGCCTCCTCATGTGTGTCTGCGTCCGCTCGAGCTTACTGAGACACTAAATCTGTTGGTTTCTGCTGTGCCACCTACCCACCCTGTTGGTGTTGCTTTGTTCCTATTGCTAAAGACAGGAATGTCCAGGACACTGAGTGTGCAGGTGCCTGCTGGTTCTCACGTCCGAGCTGCTGAACTCCGCTGGGTCCTGCTTACTGATGGTCTTTGCTCTAGTGCTTTCCAGGGTCCGTGGAAGCTTTTCCTGGAATAAAGCCCACGCATCGACCCTCACAGCGCCTCCCCTCTTTGAGGCCCAGCAGATACCCCACTCCTGCCTTTCCAGCAAGATTTTTCAGATGCTGTGCATACTCATCATATTGATCACTTTTTTCTTCATGCCTGATTGTGATCTGTCAATTTCATGTCAGGAAAGGGAGTGACATTTTTACACTTAAGCGTTTGCTGAGCAAATGTCTGGGTCTTGCACAATGACAATGGGTCCCTGTTTTTCCCAGAGGCTCTTTTGTTCTGCAGGGATTGAAGACACTCCAGTCCCACAGTCCCCAGCTCCCCTGGGGCAGGGTTGGCAGAATTTCGACAACACATTTTTCCACCCTGACTAGGATGTGCTCCTCATGGCAGCTGGGAACCACTGTCCAATAAGGGCCTGGGCTTACACAGCTGCTTCTCATTGAGTTACACCCTTAATAAAATAATCCCATTTTATCCTTTTTGTCTCTCTGTCTTCCTCTCTCTCTGCCTTTCCTCTTCTCTCTCCTCCTCTCTCATCTCCAGGTGCAAATAGTCTACAAACCAGTTGACCTGAGCAAGGTGACCTTCAAGTGTGGCTCATTAGGCAACATCCATCATAAACCAGGTAGCCCTGTGGAAGGTGAGGGTTGGGACGGGAGGGTGCAGGGGGTGGAGGAGTCCTGGTGAGGCTGGAACTGCTCCAGACTTCAGAAGGGGCTGGAAAGGATATTTTAGGTAGACCTACATCAAGGAAAGTGTTGAGTGTGAAACTTGCGGGAGCCCAGGAGGCGTGGTGGCTCCAGCTCGCTCCTGCCCAGGCCATGCTGCCCAAGACAAGGTGAGGCGGGAGTGAAGTGAAATAAGGCAGGCACAGAAAGAAAGCACATATTCTCGGCCGGGCGCTGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAAAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAGCACATGTTCTCGCTTCTTTGTGGGATCCAGGAGATAGAGAATAGAAGGATGGTTACCAGAGGCTGGGAAGGGTAGTGAGGGGATGGTGGGGGGATGGTCAATGGGTACAAAAAAAATAGAATAAGACCTAGTATTTGATAGTGCAACAGGGTGACTATAGTCAATAATAATTTAATTGTACATTTAAAAATAACTAAAAGATAGCCGGGTGCAGTGGCTTACGTCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCTTGCCACTGCACTCCAGCCTGGGTGACAGTGAAACTCCGTCTCAAAAATAAAAATAAAAATACAGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCGGATCACAAGGTCAGGAGATATAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTATAGTCCCAGCTACTCACAAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGAGAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAAAACAAACACACAACAAAAACCTAAAAGAATATAAATGGATTGTTTGTAACACAAAGGACAAATGTTTGAGGGGATGGATACCCCATTTTCCATGATGTGATTATTATACATTGTGTGTCTGTATCAAAACATCTCATGAGCCCCATAAATATATACACCTAACTATGTACCCACAAAAATTAAAAAAATATATTTTTTAAGGTGAAGAGGGAGGCGAGATGCTGGCCTTAACCCCTAACCCGTTGTTCTCCCTGCAAGCTGTCCACAGGGCCTCTCAGACTCGAGGTTCAGCTATATGGATGCATGAGCTTGGTCCCCAGCCAACATGGGAGACACTTCACCATCGGCAGCAGCTACAGCACAGGAACCCTGGGTCACTGCCATGTCCCCTCTGTGACTTTGTTTAAACAGAAAATGATGCTCTGGGCCGGCTGTGGTGGCCCACACCTATAATCCCAGCACCTTGGGAGGCGGGGGTGGGCAGATTGCCTGAGGTCAGGAGTTGGAGATCAGCCTGGCCGACATGGCGAAACCCCATGTCTACTAAAAATACAAAAACTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGCTGAG
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Task1_train_24818
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This genomic variant is located on Chromosome 17, within the MAPT (microtubule associated protein tau) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Frontotemporal dementia
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CTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACTTCTGCCTTAGGCCCTATTCAGGGCTGATTTTTACTTGAACCCTTACTGTGGGAAGAGAAGGCCATGAGAAGTTCAGTCTAGAATGTGACTCCTTATTTTCTGGCTCCCTTGGACACTTTGTGGGATTTAGTCTCCCTGTGGAAAGTATTCCACAAGTGGTGCCACCACCCCAGCTGTGAGAGCAGCTGGGAGCTGCTTTTGTCATCTTTCCCTGGAAAGTCCTGTGGGCTGTCTCTTCCTCATGCCTTGTCCCATGCTTGGGCATGGTGTCAAGCGTCAGGAGGGAGAAAGGGTCCTTATTTATTTATTTAGAGAGGGACCCTTCTTCTGTTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACATGCCAACATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTGTACTCTCATTGCCCAGGCTGGAATGTAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCTCAACTAATTTTTGTATTTTTTTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCCCGGCCTGAAAGGGTTCTTATTTAGTGTGCATTTTGACATTCAATTTAATTCCAAGGTCTTGTGGGGTCATGGTTTACAGGATGTTGATATAGAAAAGACTTCACTTAATGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCCACTCGGTTGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGACCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAAAAAAACAGACTTTACTTACTGGAAGCCAACCAATGTATATTTAGAGTAATTTTTCCTGGGCTGAGCTGTCATTTACTTTTGCAGTATCTCAAGAAGAAGAGTTTACAGTGTAAATATTTGATGCACACTTTGATTATATAGATGAAGCAAACTATTTTCAAGAGCTTTGCAAGGACTTACTTGTATCCAAACACCATTCTAAAGGAGTCTTACCTACTTCTAAAGGCTGGTCTCTACTTGGAACCACTTGCTTGGCCCTGGTTCAAGTCCTGCTGCAAACCTGGAAGTCCTGTCATTGTCTTCTTCCCTCCAGAGCAGTGGCACCCAATCTAATTTTTGCTGTGCCCCAGCAGCCCCTGGCACTTTGCCCTGTAGACTGCAGACCTCATGTAATGTATGTTAAGTCCACAGAACCACAGAAGATGATGGCAAGATGCTCTTGTGTGTGTTGTGTTCTAGGAGGTGGCCAGGTGGAAGTAAAATCTGAGAAGCTTGACTTCAAGGACAGAGTCCAGTCGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGGGGTAGGGTGGGTTGGATGCTGCCCTTGGGTATATGGGCATTAATCAAGTTGAGTGGACAAAGGCTGGTCCAGTTCCCAGAGGAGGAAAACAGAGGCTTCTGTGTTGACTGGCTGGATGTGGGCCCTCAGCAGCATCCAGTGGGTCTCCACTGCCTGTCTCAATCACCTGGAGCTTTAGCACGTTTCACACCTGGGCCCCAACCTGGAGAGGCTGACCAATGGGTCTCAGGGGCAGCTCGGTTGCTGGAGTTTTTGTTTTTATTTATTTTTATGTATTTAAGGCAGGGTCTCTGTATTAGTCCATTCTCACACTGCTAATAAAGACATACCCAAGACTGGGTAATTTATAAAGGAAAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCAAAATCATGGCGGAAGGCAAAGGAGAAGCAAAGGCATTTCTTACATGGCGACAGGCAAGAGAGCGTGTGCAGGGGAACTCCCATTTATAAAACCATCAGACCTCATGAGATTTATTCACTATCATGAGAACAGCATGGGAAAGACCCGCCCCCATGATTCAGTTACCTCCCACTGGGTCCCTCCCATGACACATGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAGTCTCCCTCTGTCATCCAGGCTGGAGTGCACTGGCATGATCTCGGCTCACTGCAGCCTCTACCTCCCTGGGTCAGGTGATCTTCCCACCTCAGCCTCCCAGGTAGCTGGAACTACAGGTACCTGCCACTATGCCTGGCTAAATATTTTGTATTTCCTGTGGAGACGAGGTTTTGCCACGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGCAATATGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACAGTGCTCGGCCTAAGTCACTGCAGTTTTTAAAGCTCCCAGGTGATTCTTCAGTGCAGTCAAAAGTGAGAACTGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCGAAGGTGGGCAGATGGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGGGACAGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCACAAAAAAAAAAAAAAAAGCGAGAACCACTGTCCTAGGCCCTGATGTTTGCAGGCAACTAAAAAAGGAAGTGGACATCCCCAGTCAGCTGTGGCGCACCAAGAACAAGTCATGGGAACATAACCTAATTTTCTAAATGGGTTACTAGGCACTTAGAGCAAAACAATGATGCCGAAATCCTGATTTCAGCAAAGCCTCTGCCTGCCTGTCTTGGAAGTATCCACATGAGGCTGCTGGGGCCTTGGTGTCCCCAGCAGTTTCTAGTCTCTAGGTCTTGCTGTGGGTGTCTGTGCAGTGAGGGTGTGTGTGGCGCTGGGTGAGCTCTGTCTAGGCCTGGCACAGGATGCGGTCTGGTAGCTGCTGCTTCTCTTCTGCAGAAGCGCAGCCAAGCACCCTCTGGGGTTTCAGGCCCACACCCAGCCTGAAGTTCTGGGAGTGGCTCACTTTCCAACCTTCAGGGTCTCCCAGCAGCTGACTGGGGAGTGGTGGAGGGAAAAGGGATTGTATTAGTCCGTTTTCACGCCGCTGATGAAGACATACCCGATACTGGGCAGTCTAAAAGATAGAGGTCTGATGGACTCACAGTTCCACGTGACTGGGGAGGCCTGACAATCATGGTGGAAGGTGAAAGGCTTGTCTCACACGGTGGCAGACAAGAGAAAAGAG
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CTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACTTCTGCCTTAGGCCCTATTCAGGGCTGATTTTTACTTGAACCCTTACTGTGGGAAGAGAAGGCCATGAGAAGTTCAGTCTAGAATGTGACTCCTTATTTTCTGGCTCCCTTGGACACTTTGTGGGATTTAGTCTCCCTGTGGAAAGTATTCCACAAGTGGTGCCACCACCCCAGCTGTGAGAGCAGCTGGGAGCTGCTTTTGTCATCTTTCCCTGGAAAGTCCTGTGGGCTGTCTCTTCCTCATGCCTTGTCCCATGCTTGGGCATGGTGTCAAGCGTCAGGAGGGAGAAAGGGTCCTTATTTATTTATTTAGAGAGGGACCCTTCTTCTGTTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACATGCCAACATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTGTACTCTCATTGCCCAGGCTGGAATGTAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCTCAACTAATTTTTGTATTTTTTTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCCCGGCCTGAAAGGGTTCTTATTTAGTGTGCATTTTGACATTCAATTTAATTCCAAGGTCTTGTGGGGTCATGGTTTACAGGATGTTGATATAGAAAAGACTTCACTTAATGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCCACTCGGTTGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGACCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAAAAAAACAGACTTTACTTACTGGAAGCCAACCAATGTATATTTAGAGTAATTTTTCCTGGGCTGAGCTGTCATTTACTTTTGCAGTATCTCAAGAAGAAGAGTTTACAGTGTAAATATTTGATGCACACTTTGATTATATAGATGAAGCAAACTATTTTCAAGAGCTTTGCAAGGACTTACTTGTATCCAAACACCATTCTAAAGGAGTCTTACCTACTTCTAAAGGCTGGTCTCTACTTGGAACCACTTGCTTGGCCCTGGTTCAAGTCCTGCTGCAAACCTGGAAGTCCTGTCATTGTCTTCTTCCCTCCAGAGCAGTGGCACCCAATCTAATTTTTGCTGTGCCCCAGCAGCCCCTGGCACTTTGCCCTGTAGACTGCAGACCTCATGTAATGTATGTTAAGTCCACAGAACCACAGAAGATGATGGCAAGATGCTCTTGTGTGTGTTGTGTTCTAGGAGGTGGCCAGATGGAAGTAAAATCTGAGAAGCTTGACTTCAAGGACAGAGTCCAGTCGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGGGGTAGGGTGGGTTGGATGCTGCCCTTGGGTATATGGGCATTAATCAAGTTGAGTGGACAAAGGCTGGTCCAGTTCCCAGAGGAGGAAAACAGAGGCTTCTGTGTTGACTGGCTGGATGTGGGCCCTCAGCAGCATCCAGTGGGTCTCCACTGCCTGTCTCAATCACCTGGAGCTTTAGCACGTTTCACACCTGGGCCCCAACCTGGAGAGGCTGACCAATGGGTCTCAGGGGCAGCTCGGTTGCTGGAGTTTTTGTTTTTATTTATTTTTATGTATTTAAGGCAGGGTCTCTGTATTAGTCCATTCTCACACTGCTAATAAAGACATACCCAAGACTGGGTAATTTATAAAGGAAAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCAAAATCATGGCGGAAGGCAAAGGAGAAGCAAAGGCATTTCTTACATGGCGACAGGCAAGAGAGCGTGTGCAGGGGAACTCCCATTTATAAAACCATCAGACCTCATGAGATTTATTCACTATCATGAGAACAGCATGGGAAAGACCCGCCCCCATGATTCAGTTACCTCCCACTGGGTCCCTCCCATGACACATGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAGTCTCCCTCTGTCATCCAGGCTGGAGTGCACTGGCATGATCTCGGCTCACTGCAGCCTCTACCTCCCTGGGTCAGGTGATCTTCCCACCTCAGCCTCCCAGGTAGCTGGAACTACAGGTACCTGCCACTATGCCTGGCTAAATATTTTGTATTTCCTGTGGAGACGAGGTTTTGCCACGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGCAATATGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACAGTGCTCGGCCTAAGTCACTGCAGTTTTTAAAGCTCCCAGGTGATTCTTCAGTGCAGTCAAAAGTGAGAACTGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCGAAGGTGGGCAGATGGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGGGACAGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCACAAAAAAAAAAAAAAAAGCGAGAACCACTGTCCTAGGCCCTGATGTTTGCAGGCAACTAAAAAAGGAAGTGGACATCCCCAGTCAGCTGTGGCGCACCAAGAACAAGTCATGGGAACATAACCTAATTTTCTAAATGGGTTACTAGGCACTTAGAGCAAAACAATGATGCCGAAATCCTGATTTCAGCAAAGCCTCTGCCTGCCTGTCTTGGAAGTATCCACATGAGGCTGCTGGGGCCTTGGTGTCCCCAGCAGTTTCTAGTCTCTAGGTCTTGCTGTGGGTGTCTGTGCAGTGAGGGTGTGTGTGGCGCTGGGTGAGCTCTGTCTAGGCCTGGCACAGGATGCGGTCTGGTAGCTGCTGCTTCTCTTCTGCAGAAGCGCAGCCAAGCACCCTCTGGGGTTTCAGGCCCACACCCAGCCTGAAGTTCTGGGAGTGGCTCACTTTCCAACCTTCAGGGTCTCCCAGCAGCTGACTGGGGAGTGGTGGAGGGAAAAGGGATTGTATTAGTCCGTTTTCACGCCGCTGATGAAGACATACCCGATACTGGGCAGTCTAAAAGATAGAGGTCTGATGGACTCACAGTTCCACGTGACTGGGGAGGCCTGACAATCATGGTGGAAGGTGAAAGGCTTGTCTCACACGGTGGCAGACAAGAGAAAAGAG
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Task1_train_24819
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Here is a genetic alteration in MAPT (microtubule associated protein tau) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Frontotemporal dementia
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CTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACTTCTGCCTTAGGCCCTATTCAGGGCTGATTTTTACTTGAACCCTTACTGTGGGAAGAGAAGGCCATGAGAAGTTCAGTCTAGAATGTGACTCCTTATTTTCTGGCTCCCTTGGACACTTTGTGGGATTTAGTCTCCCTGTGGAAAGTATTCCACAAGTGGTGCCACCACCCCAGCTGTGAGAGCAGCTGGGAGCTGCTTTTGTCATCTTTCCCTGGAAAGTCCTGTGGGCTGTCTCTTCCTCATGCCTTGTCCCATGCTTGGGCATGGTGTCAAGCGTCAGGAGGGAGAAAGGGTCCTTATTTATTTATTTAGAGAGGGACCCTTCTTCTGTTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACATGCCAACATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTGTACTCTCATTGCCCAGGCTGGAATGTAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCTCAACTAATTTTTGTATTTTTTTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCCCGGCCTGAAAGGGTTCTTATTTAGTGTGCATTTTGACATTCAATTTAATTCCAAGGTCTTGTGGGGTCATGGTTTACAGGATGTTGATATAGAAAAGACTTCACTTAATGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCCACTCGGTTGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGACCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAAAAAAACAGACTTTACTTACTGGAAGCCAACCAATGTATATTTAGAGTAATTTTTCCTGGGCTGAGCTGTCATTTACTTTTGCAGTATCTCAAGAAGAAGAGTTTACAGTGTAAATATTTGATGCACACTTTGATTATATAGATGAAGCAAACTATTTTCAAGAGCTTTGCAAGGACTTACTTGTATCCAAACACCATTCTAAAGGAGTCTTACCTACTTCTAAAGGCTGGTCTCTACTTGGAACCACTTGCTTGGCCCTGGTTCAAGTCCTGCTGCAAACCTGGAAGTCCTGTCATTGTCTTCTTCCCTCCAGAGCAGTGGCACCCAATCTAATTTTTGCTGTGCCCCAGCAGCCCCTGGCACTTTGCCCTGTAGACTGCAGACCTCATGTAATGTATGTTAAGTCCACAGAACCACAGAAGATGATGGCAAGATGCTCTTGTGTGTGTTGTGTTCTAGGAGGTGGCCAGGTGGAAGTAAAATCTGAGAAGCTTGACTTCAAGGACAGAGTCCAGTCGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGGGGTAGGGTGGGTTGGATGCTGCCCTTGGGTATATGGGCATTAATCAAGTTGAGTGGACAAAGGCTGGTCCAGTTCCCAGAGGAGGAAAACAGAGGCTTCTGTGTTGACTGGCTGGATGTGGGCCCTCAGCAGCATCCAGTGGGTCTCCACTGCCTGTCTCAATCACCTGGAGCTTTAGCACGTTTCACACCTGGGCCCCAACCTGGAGAGGCTGACCAATGGGTCTCAGGGGCAGCTCGGTTGCTGGAGTTTTTGTTTTTATTTATTTTTATGTATTTAAGGCAGGGTCTCTGTATTAGTCCATTCTCACACTGCTAATAAAGACATACCCAAGACTGGGTAATTTATAAAGGAAAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCAAAATCATGGCGGAAGGCAAAGGAGAAGCAAAGGCATTTCTTACATGGCGACAGGCAAGAGAGCGTGTGCAGGGGAACTCCCATTTATAAAACCATCAGACCTCATGAGATTTATTCACTATCATGAGAACAGCATGGGAAAGACCCGCCCCCATGATTCAGTTACCTCCCACTGGGTCCCTCCCATGACACATGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAGTCTCCCTCTGTCATCCAGGCTGGAGTGCACTGGCATGATCTCGGCTCACTGCAGCCTCTACCTCCCTGGGTCAGGTGATCTTCCCACCTCAGCCTCCCAGGTAGCTGGAACTACAGGTACCTGCCACTATGCCTGGCTAAATATTTTGTATTTCCTGTGGAGACGAGGTTTTGCCACGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGCAATATGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACAGTGCTCGGCCTAAGTCACTGCAGTTTTTAAAGCTCCCAGGTGATTCTTCAGTGCAGTCAAAAGTGAGAACTGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCGAAGGTGGGCAGATGGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGGGACAGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCACAAAAAAAAAAAAAAAAGCGAGAACCACTGTCCTAGGCCCTGATGTTTGCAGGCAACTAAAAAAGGAAGTGGACATCCCCAGTCAGCTGTGGCGCACCAAGAACAAGTCATGGGAACATAACCTAATTTTCTAAATGGGTTACTAGGCACTTAGAGCAAAACAATGATGCCGAAATCCTGATTTCAGCAAAGCCTCTGCCTGCCTGTCTTGGAAGTATCCACATGAGGCTGCTGGGGCCTTGGTGTCCCCAGCAGTTTCTAGTCTCTAGGTCTTGCTGTGGGTGTCTGTGCAGTGAGGGTGTGTGTGGCGCTGGGTGAGCTCTGTCTAGGCCTGGCACAGGATGCGGTCTGGTAGCTGCTGCTTCTCTTCTGCAGAAGCGCAGCCAAGCACCCTCTGGGGTTTCAGGCCCACACCCAGCCTGAAGTTCTGGGAGTGGCTCACTTTCCAACCTTCAGGGTCTCCCAGCAGCTGACTGGGGAGTGGTGGAGGGAAAAGGGATTGTATTAGTCCGTTTTCACGCCGCTGATGAAGACATACCCGATACTGGGCAGTCTAAAAGATAGAGGTCTGATGGACTCACAGTTCCACGTGACTGGGGAGGCCTGACAATCATGGTGGAAGGTGAAAGGCTTGTCTCACACGGTGGCAGACAAGAGAAAAGAGCTTGTGCAGGGGAACT
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CTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACTTCTGCCTTAGGCCCTATTCAGGGCTGATTTTTACTTGAACCCTTACTGTGGGAAGAGAAGGCCATGAGAAGTTCAGTCTAGAATGTGACTCCTTATTTTCTGGCTCCCTTGGACACTTTGTGGGATTTAGTCTCCCTGTGGAAAGTATTCCACAAGTGGTGCCACCACCCCAGCTGTGAGAGCAGCTGGGAGCTGCTTTTGTCATCTTTCCCTGGAAAGTCCTGTGGGCTGTCTCTTCCTCATGCCTTGTCCCATGCTTGGGCATGGTGTCAAGCGTCAGGAGGGAGAAAGGGTCCTTATTTATTTATTTAGAGAGGGACCCTTCTTCTGTTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACATGCCAACATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTGTACTCTCATTGCCCAGGCTGGAATGTAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCTCAACTAATTTTTGTATTTTTTTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCCCGGCCTGAAAGGGTTCTTATTTAGTGTGCATTTTGACATTCAATTTAATTCCAAGGTCTTGTGGGGTCATGGTTTACAGGATGTTGATATAGAAAAGACTTCACTTAATGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCCACTCGGTTGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGACCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAAAAAAACAGACTTTACTTACTGGAAGCCAACCAATGTATATTTAGAGTAATTTTTCCTGGGCTGAGCTGTCATTTACTTTTGCAGTATCTCAAGAAGAAGAGTTTACAGTGTAAATATTTGATGCACACTTTGATTATATAGATGAAGCAAACTATTTTCAAGAGCTTTGCAAGGACTTACTTGTATCCAAACACCATTCTAAAGGAGTCTTACCTACTTCTAAAGGCTGGTCTCTACTTGGAACCACTTGCTTGGCCCTGGTTCAAGTCCTGCTGCAAACCTGGAAGTCCTGTCATTGTCTTCTTCCCTCCAGAGCAGTGGCACCCAATCTAATTTTTGCTGTGCCCCAGCAGCCCCTGGCACTTTGCCCTGTAGACTGCAGACCTCATGTAATGTATGTTAAGTCCACAGAACCACAGAAGATGATGGCAAGATGCTCTTGTGTGTGTTGTGTTCTAGGAGGTGGCCAGGTGGAAGTAAAATCTGTGAAGCTTGACTTCAAGGACAGAGTCCAGTCGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGGGGTAGGGTGGGTTGGATGCTGCCCTTGGGTATATGGGCATTAATCAAGTTGAGTGGACAAAGGCTGGTCCAGTTCCCAGAGGAGGAAAACAGAGGCTTCTGTGTTGACTGGCTGGATGTGGGCCCTCAGCAGCATCCAGTGGGTCTCCACTGCCTGTCTCAATCACCTGGAGCTTTAGCACGTTTCACACCTGGGCCCCAACCTGGAGAGGCTGACCAATGGGTCTCAGGGGCAGCTCGGTTGCTGGAGTTTTTGTTTTTATTTATTTTTATGTATTTAAGGCAGGGTCTCTGTATTAGTCCATTCTCACACTGCTAATAAAGACATACCCAAGACTGGGTAATTTATAAAGGAAAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCAAAATCATGGCGGAAGGCAAAGGAGAAGCAAAGGCATTTCTTACATGGCGACAGGCAAGAGAGCGTGTGCAGGGGAACTCCCATTTATAAAACCATCAGACCTCATGAGATTTATTCACTATCATGAGAACAGCATGGGAAAGACCCGCCCCCATGATTCAGTTACCTCCCACTGGGTCCCTCCCATGACACATGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAGTCTCCCTCTGTCATCCAGGCTGGAGTGCACTGGCATGATCTCGGCTCACTGCAGCCTCTACCTCCCTGGGTCAGGTGATCTTCCCACCTCAGCCTCCCAGGTAGCTGGAACTACAGGTACCTGCCACTATGCCTGGCTAAATATTTTGTATTTCCTGTGGAGACGAGGTTTTGCCACGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGCAATATGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACAGTGCTCGGCCTAAGTCACTGCAGTTTTTAAAGCTCCCAGGTGATTCTTCAGTGCAGTCAAAAGTGAGAACTGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCGAAGGTGGGCAGATGGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGGGACAGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCACAAAAAAAAAAAAAAAAGCGAGAACCACTGTCCTAGGCCCTGATGTTTGCAGGCAACTAAAAAAGGAAGTGGACATCCCCAGTCAGCTGTGGCGCACCAAGAACAAGTCATGGGAACATAACCTAATTTTCTAAATGGGTTACTAGGCACTTAGAGCAAAACAATGATGCCGAAATCCTGATTTCAGCAAAGCCTCTGCCTGCCTGTCTTGGAAGTATCCACATGAGGCTGCTGGGGCCTTGGTGTCCCCAGCAGTTTCTAGTCTCTAGGTCTTGCTGTGGGTGTCTGTGCAGTGAGGGTGTGTGTGGCGCTGGGTGAGCTCTGTCTAGGCCTGGCACAGGATGCGGTCTGGTAGCTGCTGCTTCTCTTCTGCAGAAGCGCAGCCAAGCACCCTCTGGGGTTTCAGGCCCACACCCAGCCTGAAGTTCTGGGAGTGGCTCACTTTCCAACCTTCAGGGTCTCCCAGCAGCTGACTGGGGAGTGGTGGAGGGAAAAGGGATTGTATTAGTCCGTTTTCACGCCGCTGATGAAGACATACCCGATACTGGGCAGTCTAAAAGATAGAGGTCTGATGGACTCACAGTTCCACGTGACTGGGGAGGCCTGACAATCATGGTGGAAGGTGAAAGGCTTGTCTCACACGGTGGCAGACAAGAGAAAAGAGCTTGTGCAGGGGAACT
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Task1_train_24820
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Consider this mutation in MAPT (microtubule associated protein tau) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Supranuclear palsy, progressive, 1
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CGGGCATGGTGGCAGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACTTCTGCCTTAGGCCCTATTCAGGGCTGATTTTTACTTGAACCCTTACTGTGGGAAGAGAAGGCCATGAGAAGTTCAGTCTAGAATGTGACTCCTTATTTTCTGGCTCCCTTGGACACTTTGTGGGATTTAGTCTCCCTGTGGAAAGTATTCCACAAGTGGTGCCACCACCCCAGCTGTGAGAGCAGCTGGGAGCTGCTTTTGTCATCTTTCCCTGGAAAGTCCTGTGGGCTGTCTCTTCCTCATGCCTTGTCCCATGCTTGGGCATGGTGTCAAGCGTCAGGAGGGAGAAAGGGTCCTTATTTATTTATTTAGAGAGGGACCCTTCTTCTGTTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACATGCCAACATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTGTACTCTCATTGCCCAGGCTGGAATGTAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCTCAACTAATTTTTGTATTTTTTTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCCCGGCCTGAAAGGGTTCTTATTTAGTGTGCATTTTGACATTCAATTTAATTCCAAGGTCTTGTGGGGTCATGGTTTACAGGATGTTGATATAGAAAAGACTTCACTTAATGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCCACTCGGTTGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGACCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAAAAAAACAGACTTTACTTACTGGAAGCCAACCAATGTATATTTAGAGTAATTTTTCCTGGGCTGAGCTGTCATTTACTTTTGCAGTATCTCAAGAAGAAGAGTTTACAGTGTAAATATTTGATGCACACTTTGATTATATAGATGAAGCAAACTATTTTCAAGAGCTTTGCAAGGACTTACTTGTATCCAAACACCATTCTAAAGGAGTCTTACCTACTTCTAAAGGCTGGTCTCTACTTGGAACCACTTGCTTGGCCCTGGTTCAAGTCCTGCTGCAAACCTGGAAGTCCTGTCATTGTCTTCTTCCCTCCAGAGCAGTGGCACCCAATCTAATTTTTGCTGTGCCCCAGCAGCCCCTGGCACTTTGCCCTGTAGACTGCAGACCTCATGTAATGTATGTTAAGTCCACAGAACCACAGAAGATGATGGCAAGATGCTCTTGTGTGTGTTGTGTTCTAGGAGGTGGCCAGGTGGAAGTAAAATCTGAGAAGCTTGACTTCAAGGACAGAGTCCAGTCGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGGGGTAGGGTGGGTTGGATGCTGCCCTTGGGTATATGGGCATTAATCAAGTTGAGTGGACAAAGGCTGGTCCAGTTCCCAGAGGAGGAAAACAGAGGCTTCTGTGTTGACTGGCTGGATGTGGGCCCTCAGCAGCATCCAGTGGGTCTCCACTGCCTGTCTCAATCACCTGGAGCTTTAGCACGTTTCACACCTGGGCCCCAACCTGGAGAGGCTGACCAATGGGTCTCAGGGGCAGCTCGGTTGCTGGAGTTTTTGTTTTTATTTATTTTTATGTATTTAAGGCAGGGTCTCTGTATTAGTCCATTCTCACACTGCTAATAAAGACATACCCAAGACTGGGTAATTTATAAAGGAAAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCAAAATCATGGCGGAAGGCAAAGGAGAAGCAAAGGCATTTCTTACATGGCGACAGGCAAGAGAGCGTGTGCAGGGGAACTCCCATTTATAAAACCATCAGACCTCATGAGATTTATTCACTATCATGAGAACAGCATGGGAAAGACCCGCCCCCATGATTCAGTTACCTCCCACTGGGTCCCTCCCATGACACATGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAGTCTCCCTCTGTCATCCAGGCTGGAGTGCACTGGCATGATCTCGGCTCACTGCAGCCTCTACCTCCCTGGGTCAGGTGATCTTCCCACCTCAGCCTCCCAGGTAGCTGGAACTACAGGTACCTGCCACTATGCCTGGCTAAATATTTTGTATTTCCTGTGGAGACGAGGTTTTGCCACGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGCAATATGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACAGTGCTCGGCCTAAGTCACTGCAGTTTTTAAAGCTCCCAGGTGATTCTTCAGTGCAGTCAAAAGTGAGAACTGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCGAAGGTGGGCAGATGGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGGGACAGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCACAAAAAAAAAAAAAAAAGCGAGAACCACTGTCCTAGGCCCTGATGTTTGCAGGCAACTAAAAAAGGAAGTGGACATCCCCAGTCAGCTGTGGCGCACCAAGAACAAGTCATGGGAACATAACCTAATTTTCTAAATGGGTTACTAGGCACTTAGAGCAAAACAATGATGCCGAAATCCTGATTTCAGCAAAGCCTCTGCCTGCCTGTCTTGGAAGTATCCACATGAGGCTGCTGGGGCCTTGGTGTCCCCAGCAGTTTCTAGTCTCTAGGTCTTGCTGTGGGTGTCTGTGCAGTGAGGGTGTGTGTGGCGCTGGGTGAGCTCTGTCTAGGCCTGGCACAGGATGCGGTCTGGTAGCTGCTGCTTCTCTTCTGCAGAAGCGCAGCCAAGCACCCTCTGGGGTTTCAGGCCCACACCCAGCCTGAAGTTCTGGGAGTGGCTCACTTTCCAACCTTCAGGGTCTCCCAGCAGCTGACTGGGGAGTGGTGGAGGGAAAAGGGATTGTATTAGTCCGTTTTCACGCCGCTGATGAAGACATACCCGATACTGGGCAGTCTAAAAGATAGAGGTCTGATGGACTCACAGTTCCACGTGACTGGGGAGGCCTGACAATCATGGTGGAAGGTGAAAGGCTTGTCTCACACGGTGGCAGACAAGAGAAAAGAGCTTGTGCAGGGGAACTCCCCTTTATAAAACCATCAGATCTCGGGAG
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CGGGCATGGTGGCAGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACTTCTGCCTTAGGCCCTATTCAGGGCTGATTTTTACTTGAACCCTTACTGTGGGAAGAGAAGGCCATGAGAAGTTCAGTCTAGAATGTGACTCCTTATTTTCTGGCTCCCTTGGACACTTTGTGGGATTTAGTCTCCCTGTGGAAAGTATTCCACAAGTGGTGCCACCACCCCAGCTGTGAGAGCAGCTGGGAGCTGCTTTTGTCATCTTTCCCTGGAAAGTCCTGTGGGCTGTCTCTTCCTCATGCCTTGTCCCATGCTTGGGCATGGTGTCAAGCGTCAGGAGGGAGAAAGGGTCCTTATTTATTTATTTAGAGAGGGACCCTTCTTCTGTTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACATGCCAACATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTGTACTCTCATTGCCCAGGCTGGAATGTAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCTCAACTAATTTTTGTATTTTTTTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCCCGGCCTGAAAGGGTTCTTATTTAGTGTGCATTTTGACATTCAATTTAATTCCAAGGTCTTGTGGGGTCATGGTTTACAGGATGTTGATATAGAAAAGACTTCACTTAATGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCCACTCGGTTGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGACCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAAAAAAACAGACTTTACTTACTGGAAGCCAACCAATGTATATTTAGAGTAATTTTTCCTGGGCTGAGCTGTCATTTACTTTTGCAGTATCTCAAGAAGAAGAGTTTACAGTGTAAATATTTGATGCACACTTTGATTATATAGATGAAGCAAACTATTTTCAAGAGCTTTGCAAGGACTTACTTGTATCCAAACACCATTCTAAAGGAGTCTTACCTACTTCTAAAGGCTGGTCTCTACTTGGAACCACTTGCTTGGCCCTGGTTCAAGTCCTGCTGCAAACCTGGAAGTCCTGTCATTGTCTTCTTCCCTCCAGAGCAGTGGCACCCAATCTAATTTTTGCTGTGCCCCAGCAGCCCCTGGCACTTTGCCCTGTAGACTGCAGACCTCATGTAATGTATGTTAAGTCCACAGAACCACAGAAGATGATGGCAAGATGCTCTTGTGTGTGTTGTGTTCTAGGAGGTGGCCAGGTGGAAGTAAAATCTGAGAAGCTTGACTTCAAGGACAGAGTCCAGTTGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGGGGTAGGGTGGGTTGGATGCTGCCCTTGGGTATATGGGCATTAATCAAGTTGAGTGGACAAAGGCTGGTCCAGTTCCCAGAGGAGGAAAACAGAGGCTTCTGTGTTGACTGGCTGGATGTGGGCCCTCAGCAGCATCCAGTGGGTCTCCACTGCCTGTCTCAATCACCTGGAGCTTTAGCACGTTTCACACCTGGGCCCCAACCTGGAGAGGCTGACCAATGGGTCTCAGGGGCAGCTCGGTTGCTGGAGTTTTTGTTTTTATTTATTTTTATGTATTTAAGGCAGGGTCTCTGTATTAGTCCATTCTCACACTGCTAATAAAGACATACCCAAGACTGGGTAATTTATAAAGGAAAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCAAAATCATGGCGGAAGGCAAAGGAGAAGCAAAGGCATTTCTTACATGGCGACAGGCAAGAGAGCGTGTGCAGGGGAACTCCCATTTATAAAACCATCAGACCTCATGAGATTTATTCACTATCATGAGAACAGCATGGGAAAGACCCGCCCCCATGATTCAGTTACCTCCCACTGGGTCCCTCCCATGACACATGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAGTCTCCCTCTGTCATCCAGGCTGGAGTGCACTGGCATGATCTCGGCTCACTGCAGCCTCTACCTCCCTGGGTCAGGTGATCTTCCCACCTCAGCCTCCCAGGTAGCTGGAACTACAGGTACCTGCCACTATGCCTGGCTAAATATTTTGTATTTCCTGTGGAGACGAGGTTTTGCCACGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGCAATATGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACAGTGCTCGGCCTAAGTCACTGCAGTTTTTAAAGCTCCCAGGTGATTCTTCAGTGCAGTCAAAAGTGAGAACTGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCGAAGGTGGGCAGATGGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGGGACAGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCACAAAAAAAAAAAAAAAAGCGAGAACCACTGTCCTAGGCCCTGATGTTTGCAGGCAACTAAAAAAGGAAGTGGACATCCCCAGTCAGCTGTGGCGCACCAAGAACAAGTCATGGGAACATAACCTAATTTTCTAAATGGGTTACTAGGCACTTAGAGCAAAACAATGATGCCGAAATCCTGATTTCAGCAAAGCCTCTGCCTGCCTGTCTTGGAAGTATCCACATGAGGCTGCTGGGGCCTTGGTGTCCCCAGCAGTTTCTAGTCTCTAGGTCTTGCTGTGGGTGTCTGTGCAGTGAGGGTGTGTGTGGCGCTGGGTGAGCTCTGTCTAGGCCTGGCACAGGATGCGGTCTGGTAGCTGCTGCTTCTCTTCTGCAGAAGCGCAGCCAAGCACCCTCTGGGGTTTCAGGCCCACACCCAGCCTGAAGTTCTGGGAGTGGCTCACTTTCCAACCTTCAGGGTCTCCCAGCAGCTGACTGGGGAGTGGTGGAGGGAAAAGGGATTGTATTAGTCCGTTTTCACGCCGCTGATGAAGACATACCCGATACTGGGCAGTCTAAAAGATAGAGGTCTGATGGACTCACAGTTCCACGTGACTGGGGAGGCCTGACAATCATGGTGGAAGGTGAAAGGCTTGTCTCACACGGTGGCAGACAAGAGAAAAGAGCTTGTGCAGGGGAACTCCCCTTTATAAAACCATCAGATCTCGGGAG
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Task1_train_24821
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A mutation found in MAPT (microtubule associated protein tau) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Frontotemporal dementia
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TTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACTTCTGCCTTAGGCCCTATTCAGGGCTGATTTTTACTTGAACCCTTACTGTGGGAAGAGAAGGCCATGAGAAGTTCAGTCTAGAATGTGACTCCTTATTTTCTGGCTCCCTTGGACACTTTGTGGGATTTAGTCTCCCTGTGGAAAGTATTCCACAAGTGGTGCCACCACCCCAGCTGTGAGAGCAGCTGGGAGCTGCTTTTGTCATCTTTCCCTGGAAAGTCCTGTGGGCTGTCTCTTCCTCATGCCTTGTCCCATGCTTGGGCATGGTGTCAAGCGTCAGGAGGGAGAAAGGGTCCTTATTTATTTATTTAGAGAGGGACCCTTCTTCTGTTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACATGCCAACATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTGTACTCTCATTGCCCAGGCTGGAATGTAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCTCAACTAATTTTTGTATTTTTTTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCCCGGCCTGAAAGGGTTCTTATTTAGTGTGCATTTTGACATTCAATTTAATTCCAAGGTCTTGTGGGGTCATGGTTTACAGGATGTTGATATAGAAAAGACTTCACTTAATGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCCACTCGGTTGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGACCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAAAAAAACAGACTTTACTTACTGGAAGCCAACCAATGTATATTTAGAGTAATTTTTCCTGGGCTGAGCTGTCATTTACTTTTGCAGTATCTCAAGAAGAAGAGTTTACAGTGTAAATATTTGATGCACACTTTGATTATATAGATGAAGCAAACTATTTTCAAGAGCTTTGCAAGGACTTACTTGTATCCAAACACCATTCTAAAGGAGTCTTACCTACTTCTAAAGGCTGGTCTCTACTTGGAACCACTTGCTTGGCCCTGGTTCAAGTCCTGCTGCAAACCTGGAAGTCCTGTCATTGTCTTCTTCCCTCCAGAGCAGTGGCACCCAATCTAATTTTTGCTGTGCCCCAGCAGCCCCTGGCACTTTGCCCTGTAGACTGCAGACCTCATGTAATGTATGTTAAGTCCACAGAACCACAGAAGATGATGGCAAGATGCTCTTGTGTGTGTTGTGTTCTAGGAGGTGGCCAGGTGGAAGTAAAATCTGAGAAGCTTGACTTCAAGGACAGAGTCCAGTCGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGGGGTAGGGTGGGTTGGATGCTGCCCTTGGGTATATGGGCATTAATCAAGTTGAGTGGACAAAGGCTGGTCCAGTTCCCAGAGGAGGAAAACAGAGGCTTCTGTGTTGACTGGCTGGATGTGGGCCCTCAGCAGCATCCAGTGGGTCTCCACTGCCTGTCTCAATCACCTGGAGCTTTAGCACGTTTCACACCTGGGCCCCAACCTGGAGAGGCTGACCAATGGGTCTCAGGGGCAGCTCGGTTGCTGGAGTTTTTGTTTTTATTTATTTTTATGTATTTAAGGCAGGGTCTCTGTATTAGTCCATTCTCACACTGCTAATAAAGACATACCCAAGACTGGGTAATTTATAAAGGAAAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCAAAATCATGGCGGAAGGCAAAGGAGAAGCAAAGGCATTTCTTACATGGCGACAGGCAAGAGAGCGTGTGCAGGGGAACTCCCATTTATAAAACCATCAGACCTCATGAGATTTATTCACTATCATGAGAACAGCATGGGAAAGACCCGCCCCCATGATTCAGTTACCTCCCACTGGGTCCCTCCCATGACACATGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAGTCTCCCTCTGTCATCCAGGCTGGAGTGCACTGGCATGATCTCGGCTCACTGCAGCCTCTACCTCCCTGGGTCAGGTGATCTTCCCACCTCAGCCTCCCAGGTAGCTGGAACTACAGGTACCTGCCACTATGCCTGGCTAAATATTTTGTATTTCCTGTGGAGACGAGGTTTTGCCACGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGCAATATGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACAGTGCTCGGCCTAAGTCACTGCAGTTTTTAAAGCTCCCAGGTGATTCTTCAGTGCAGTCAAAAGTGAGAACTGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCGAAGGTGGGCAGATGGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGGGACAGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCACAAAAAAAAAAAAAAAAGCGAGAACCACTGTCCTAGGCCCTGATGTTTGCAGGCAACTAAAAAAGGAAGTGGACATCCCCAGTCAGCTGTGGCGCACCAAGAACAAGTCATGGGAACATAACCTAATTTTCTAAATGGGTTACTAGGCACTTAGAGCAAAACAATGATGCCGAAATCCTGATTTCAGCAAAGCCTCTGCCTGCCTGTCTTGGAAGTATCCACATGAGGCTGCTGGGGCCTTGGTGTCCCCAGCAGTTTCTAGTCTCTAGGTCTTGCTGTGGGTGTCTGTGCAGTGAGGGTGTGTGTGGCGCTGGGTGAGCTCTGTCTAGGCCTGGCACAGGATGCGGTCTGGTAGCTGCTGCTTCTCTTCTGCAGAAGCGCAGCCAAGCACCCTCTGGGGTTTCAGGCCCACACCCAGCCTGAAGTTCTGGGAGTGGCTCACTTTCCAACCTTCAGGGTCTCCCAGCAGCTGACTGGGGAGTGGTGGAGGGAAAAGGGATTGTATTAGTCCGTTTTCACGCCGCTGATGAAGACATACCCGATACTGGGCAGTCTAAAAGATAGAGGTCTGATGGACTCACAGTTCCACGTGACTGGGGAGGCCTGACAATCATGGTGGAAGGTGAAAGGCTTGTCTCACACGGTGGCAGACAAGAGAAAAGAGCTTGTGCAGGGGAACTCCCCTTTATAAAACCATCAGATCTCGGGAGACTTATTCACTATCATGAGAACAGCACGGGAAAGA
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TTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACTTCTGCCTTAGGCCCTATTCAGGGCTGATTTTTACTTGAACCCTTACTGTGGGAAGAGAAGGCCATGAGAAGTTCAGTCTAGAATGTGACTCCTTATTTTCTGGCTCCCTTGGACACTTTGTGGGATTTAGTCTCCCTGTGGAAAGTATTCCACAAGTGGTGCCACCACCCCAGCTGTGAGAGCAGCTGGGAGCTGCTTTTGTCATCTTTCCCTGGAAAGTCCTGTGGGCTGTCTCTTCCTCATGCCTTGTCCCATGCTTGGGCATGGTGTCAAGCGTCAGGAGGGAGAAAGGGTCCTTATTTATTTATTTAGAGAGGGACCCTTCTTCTGTTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACATGCCAACATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTGTACTCTCATTGCCCAGGCTGGAATGTAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCTCAACTAATTTTTGTATTTTTTTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCCCGGCCTGAAAGGGTTCTTATTTAGTGTGCATTTTGACATTCAATTTAATTCCAAGGTCTTGTGGGGTCATGGTTTACAGGATGTTGATATAGAAAAGACTTCACTTAATGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCCACTCGGTTGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGACCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAAAAAAACAGACTTTACTTACTGGAAGCCAACCAATGTATATTTAGAGTAATTTTTCCTGGGCTGAGCTGTCATTTACTTTTGCAGTATCTCAAGAAGAAGAGTTTACAGTGTAAATATTTGATGCACACTTTGATTATATAGATGAAGCAAACTATTTTCAAGAGCTTTGCAAGGACTTACTTGTATCCAAACACCATTCTAAAGGAGTCTTACCTACTTCTAAAGGCTGGTCTCTACTTGGAACCACTTGCTTGGCCCTGGTTCAAGTCCTGCTGCAAACCTGGAAGTCCTGTCATTGTCTTCTTCCCTCCAGAGCAGTGGCACCCAATCTAATTTTTGCTGTGCCCCAGCAGCCCCTGGCACTTTGCCCTGTAGACTGCAGACCTCATGTAATGTATGTTAAGTCCACAGAACCACAGAAGATGATGGCAAGATGCTCTTGTGTGTGTTGTGTTCTAGGAGGTGGCCAGGTGGAAGTAAAATCTGAGAAGCTTGACTTCAAGGACAGAGTCCAGTCGAAGATTGGGTCCCTGGACAATATCACCCACGTCTCTGGCGGAGGAAATAAAAAGGTAAAGGGGGTAGGGTGGGTTGGATGCTGCCCTTGGGTATATGGGCATTAATCAAGTTGAGTGGACAAAGGCTGGTCCAGTTCCCAGAGGAGGAAAACAGAGGCTTCTGTGTTGACTGGCTGGATGTGGGCCCTCAGCAGCATCCAGTGGGTCTCCACTGCCTGTCTCAATCACCTGGAGCTTTAGCACGTTTCACACCTGGGCCCCAACCTGGAGAGGCTGACCAATGGGTCTCAGGGGCAGCTCGGTTGCTGGAGTTTTTGTTTTTATTTATTTTTATGTATTTAAGGCAGGGTCTCTGTATTAGTCCATTCTCACACTGCTAATAAAGACATACCCAAGACTGGGTAATTTATAAAGGAAAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCAAAATCATGGCGGAAGGCAAAGGAGAAGCAAAGGCATTTCTTACATGGCGACAGGCAAGAGAGCGTGTGCAGGGGAACTCCCATTTATAAAACCATCAGACCTCATGAGATTTATTCACTATCATGAGAACAGCATGGGAAAGACCCGCCCCCATGATTCAGTTACCTCCCACTGGGTCCCTCCCATGACACATGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAGTCTCCCTCTGTCATCCAGGCTGGAGTGCACTGGCATGATCTCGGCTCACTGCAGCCTCTACCTCCCTGGGTCAGGTGATCTTCCCACCTCAGCCTCCCAGGTAGCTGGAACTACAGGTACCTGCCACTATGCCTGGCTAAATATTTTGTATTTCCTGTGGAGACGAGGTTTTGCCACGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGCAATATGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACAGTGCTCGGCCTAAGTCACTGCAGTTTTTAAAGCTCCCAGGTGATTCTTCAGTGCAGTCAAAAGTGAGAACTGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCGAAGGTGGGCAGATGGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGGGACAGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCACAAAAAAAAAAAAAAAAGCGAGAACCACTGTCCTAGGCCCTGATGTTTGCAGGCAACTAAAAAAGGAAGTGGACATCCCCAGTCAGCTGTGGCGCACCAAGAACAAGTCATGGGAACATAACCTAATTTTCTAAATGGGTTACTAGGCACTTAGAGCAAAACAATGATGCCGAAATCCTGATTTCAGCAAAGCCTCTGCCTGCCTGTCTTGGAAGTATCCACATGAGGCTGCTGGGGCCTTGGTGTCCCCAGCAGTTTCTAGTCTCTAGGTCTTGCTGTGGGTGTCTGTGCAGTGAGGGTGTGTGTGGCGCTGGGTGAGCTCTGTCTAGGCCTGGCACAGGATGCGGTCTGGTAGCTGCTGCTTCTCTTCTGCAGAAGCGCAGCCAAGCACCCTCTGGGGTTTCAGGCCCACACCCAGCCTGAAGTTCTGGGAGTGGCTCACTTTCCAACCTTCAGGGTCTCCCAGCAGCTGACTGGGGAGTGGTGGAGGGAAAAGGGATTGTATTAGTCCGTTTTCACGCCGCTGATGAAGACATACCCGATACTGGGCAGTCTAAAAGATAGAGGTCTGATGGACTCACAGTTCCACGTGACTGGGGAGGCCTGACAATCATGGTGGAAGGTGAAAGGCTTGTCTCACACGGTGGCAGACAAGAGAAAAGAGCTTGTGCAGGGGAACTCCCCTTTATAAAACCATCAGATCTCGGGAGACTTATTCACTATCATGAGAACAGCACGGGAAAGA
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Task1_train_24822
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With a mutation on Chromosome 17 in gene MAPT (microtubule associated protein tau), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Pick disease
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GGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACTTCTGCCTTAGGCCCTATTCAGGGCTGATTTTTACTTGAACCCTTACTGTGGGAAGAGAAGGCCATGAGAAGTTCAGTCTAGAATGTGACTCCTTATTTTCTGGCTCCCTTGGACACTTTGTGGGATTTAGTCTCCCTGTGGAAAGTATTCCACAAGTGGTGCCACCACCCCAGCTGTGAGAGCAGCTGGGAGCTGCTTTTGTCATCTTTCCCTGGAAAGTCCTGTGGGCTGTCTCTTCCTCATGCCTTGTCCCATGCTTGGGCATGGTGTCAAGCGTCAGGAGGGAGAAAGGGTCCTTATTTATTTATTTAGAGAGGGACCCTTCTTCTGTTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACATGCCAACATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTGTACTCTCATTGCCCAGGCTGGAATGTAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCTCAACTAATTTTTGTATTTTTTTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCCCGGCCTGAAAGGGTTCTTATTTAGTGTGCATTTTGACATTCAATTTAATTCCAAGGTCTTGTGGGGTCATGGTTTACAGGATGTTGATATAGAAAAGACTTCACTTAATGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCCACTCGGTTGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGACCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAAAAAAACAGACTTTACTTACTGGAAGCCAACCAATGTATATTTAGAGTAATTTTTCCTGGGCTGAGCTGTCATTTACTTTTGCAGTATCTCAAGAAGAAGAGTTTACAGTGTAAATATTTGATGCACACTTTGATTATATAGATGAAGCAAACTATTTTCAAGAGCTTTGCAAGGACTTACTTGTATCCAAACACCATTCTAAAGGAGTCTTACCTACTTCTAAAGGCTGGTCTCTACTTGGAACCACTTGCTTGGCCCTGGTTCAAGTCCTGCTGCAAACCTGGAAGTCCTGTCATTGTCTTCTTCCCTCCAGAGCAGTGGCACCCAATCTAATTTTTGCTGTGCCCCAGCAGCCCCTGGCACTTTGCCCTGTAGACTGCAGACCTCATGTAATGTATGTTAAGTCCACAGAACCACAGAAGATGATGGCAAGATGCTCTTGTGTGTGTTGTGTTCTAGGAGGTGGCCAGGTGGAAGTAAAATCTGAGAAGCTTGACTTCAAGGACAGAGTCCAGTCGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGGGGTAGGGTGGGTTGGATGCTGCCCTTGGGTATATGGGCATTAATCAAGTTGAGTGGACAAAGGCTGGTCCAGTTCCCAGAGGAGGAAAACAGAGGCTTCTGTGTTGACTGGCTGGATGTGGGCCCTCAGCAGCATCCAGTGGGTCTCCACTGCCTGTCTCAATCACCTGGAGCTTTAGCACGTTTCACACCTGGGCCCCAACCTGGAGAGGCTGACCAATGGGTCTCAGGGGCAGCTCGGTTGCTGGAGTTTTTGTTTTTATTTATTTTTATGTATTTAAGGCAGGGTCTCTGTATTAGTCCATTCTCACACTGCTAATAAAGACATACCCAAGACTGGGTAATTTATAAAGGAAAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCAAAATCATGGCGGAAGGCAAAGGAGAAGCAAAGGCATTTCTTACATGGCGACAGGCAAGAGAGCGTGTGCAGGGGAACTCCCATTTATAAAACCATCAGACCTCATGAGATTTATTCACTATCATGAGAACAGCATGGGAAAGACCCGCCCCCATGATTCAGTTACCTCCCACTGGGTCCCTCCCATGACACATGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAGTCTCCCTCTGTCATCCAGGCTGGAGTGCACTGGCATGATCTCGGCTCACTGCAGCCTCTACCTCCCTGGGTCAGGTGATCTTCCCACCTCAGCCTCCCAGGTAGCTGGAACTACAGGTACCTGCCACTATGCCTGGCTAAATATTTTGTATTTCCTGTGGAGACGAGGTTTTGCCACGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGCAATATGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACAGTGCTCGGCCTAAGTCACTGCAGTTTTTAAAGCTCCCAGGTGATTCTTCAGTGCAGTCAAAAGTGAGAACTGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCGAAGGTGGGCAGATGGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGGGACAGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCACAAAAAAAAAAAAAAAAGCGAGAACCACTGTCCTAGGCCCTGATGTTTGCAGGCAACTAAAAAAGGAAGTGGACATCCCCAGTCAGCTGTGGCGCACCAAGAACAAGTCATGGGAACATAACCTAATTTTCTAAATGGGTTACTAGGCACTTAGAGCAAAACAATGATGCCGAAATCCTGATTTCAGCAAAGCCTCTGCCTGCCTGTCTTGGAAGTATCCACATGAGGCTGCTGGGGCCTTGGTGTCCCCAGCAGTTTCTAGTCTCTAGGTCTTGCTGTGGGTGTCTGTGCAGTGAGGGTGTGTGTGGCGCTGGGTGAGCTCTGTCTAGGCCTGGCACAGGATGCGGTCTGGTAGCTGCTGCTTCTCTTCTGCAGAAGCGCAGCCAAGCACCCTCTGGGGTTTCAGGCCCACACCCAGCCTGAAGTTCTGGGAGTGGCTCACTTTCCAACCTTCAGGGTCTCCCAGCAGCTGACTGGGGAGTGGTGGAGGGAAAAGGGATTGTATTAGTCCGTTTTCACGCCGCTGATGAAGACATACCCGATACTGGGCAGTCTAAAAGATAGAGGTCTGATGGACTCACAGTTCCACGTGACTGGGGAGGCCTGACAATCATGGTGGAAGGTGAAAGGCTTGTCTCACACGGTGGCAGACAAGAGAAAAGAGCTTGTGCAGGGGAACTCCCCTTTATAAAACCATCAGATCTCGGGAGACTTATTCACTATCATGAGAACAGCACGGGAAAGACCCTCCTCTATGATTC
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GGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACTTCTGCCTTAGGCCCTATTCAGGGCTGATTTTTACTTGAACCCTTACTGTGGGAAGAGAAGGCCATGAGAAGTTCAGTCTAGAATGTGACTCCTTATTTTCTGGCTCCCTTGGACACTTTGTGGGATTTAGTCTCCCTGTGGAAAGTATTCCACAAGTGGTGCCACCACCCCAGCTGTGAGAGCAGCTGGGAGCTGCTTTTGTCATCTTTCCCTGGAAAGTCCTGTGGGCTGTCTCTTCCTCATGCCTTGTCCCATGCTTGGGCATGGTGTCAAGCGTCAGGAGGGAGAAAGGGTCCTTATTTATTTATTTAGAGAGGGACCCTTCTTCTGTTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACATGCCAACATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTGTACTCTCATTGCCCAGGCTGGAATGTAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCTCAACTAATTTTTGTATTTTTTTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCCCGGCCTGAAAGGGTTCTTATTTAGTGTGCATTTTGACATTCAATTTAATTCCAAGGTCTTGTGGGGTCATGGTTTACAGGATGTTGATATAGAAAAGACTTCACTTAATGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCCACTCGGTTGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGACCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAAAAAAACAGACTTTACTTACTGGAAGCCAACCAATGTATATTTAGAGTAATTTTTCCTGGGCTGAGCTGTCATTTACTTTTGCAGTATCTCAAGAAGAAGAGTTTACAGTGTAAATATTTGATGCACACTTTGATTATATAGATGAAGCAAACTATTTTCAAGAGCTTTGCAAGGACTTACTTGTATCCAAACACCATTCTAAAGGAGTCTTACCTACTTCTAAAGGCTGGTCTCTACTTGGAACCACTTGCTTGGCCCTGGTTCAAGTCCTGCTGCAAACCTGGAAGTCCTGTCATTGTCTTCTTCCCTCCAGAGCAGTGGCACCCAATCTAATTTTTGCTGTGCCCCAGCAGCCCCTGGCACTTTGCCCTGTAGACTGCAGACCTCATGTAATGTATGTTAAGTCCACAGAACCACAGAAGATGATGGCAAGATGCTCTTGTGTGTGTTGTGTTCTAGGAGGTGGCCAGGTGGAAGTAAAATCTGAGAAGCTTGACTTCAAGGACAGAGTCCAGTCGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATATAAAGGTAAAGGGGGTAGGGTGGGTTGGATGCTGCCCTTGGGTATATGGGCATTAATCAAGTTGAGTGGACAAAGGCTGGTCCAGTTCCCAGAGGAGGAAAACAGAGGCTTCTGTGTTGACTGGCTGGATGTGGGCCCTCAGCAGCATCCAGTGGGTCTCCACTGCCTGTCTCAATCACCTGGAGCTTTAGCACGTTTCACACCTGGGCCCCAACCTGGAGAGGCTGACCAATGGGTCTCAGGGGCAGCTCGGTTGCTGGAGTTTTTGTTTTTATTTATTTTTATGTATTTAAGGCAGGGTCTCTGTATTAGTCCATTCTCACACTGCTAATAAAGACATACCCAAGACTGGGTAATTTATAAAGGAAAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCAAAATCATGGCGGAAGGCAAAGGAGAAGCAAAGGCATTTCTTACATGGCGACAGGCAAGAGAGCGTGTGCAGGGGAACTCCCATTTATAAAACCATCAGACCTCATGAGATTTATTCACTATCATGAGAACAGCATGGGAAAGACCCGCCCCCATGATTCAGTTACCTCCCACTGGGTCCCTCCCATGACACATGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAGTCTCCCTCTGTCATCCAGGCTGGAGTGCACTGGCATGATCTCGGCTCACTGCAGCCTCTACCTCCCTGGGTCAGGTGATCTTCCCACCTCAGCCTCCCAGGTAGCTGGAACTACAGGTACCTGCCACTATGCCTGGCTAAATATTTTGTATTTCCTGTGGAGACGAGGTTTTGCCACGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGCAATATGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACAGTGCTCGGCCTAAGTCACTGCAGTTTTTAAAGCTCCCAGGTGATTCTTCAGTGCAGTCAAAAGTGAGAACTGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCGAAGGTGGGCAGATGGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCCAGGGGACAGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCACAAAAAAAAAAAAAAAAGCGAGAACCACTGTCCTAGGCCCTGATGTTTGCAGGCAACTAAAAAAGGAAGTGGACATCCCCAGTCAGCTGTGGCGCACCAAGAACAAGTCATGGGAACATAACCTAATTTTCTAAATGGGTTACTAGGCACTTAGAGCAAAACAATGATGCCGAAATCCTGATTTCAGCAAAGCCTCTGCCTGCCTGTCTTGGAAGTATCCACATGAGGCTGCTGGGGCCTTGGTGTCCCCAGCAGTTTCTAGTCTCTAGGTCTTGCTGTGGGTGTCTGTGCAGTGAGGGTGTGTGTGGCGCTGGGTGAGCTCTGTCTAGGCCTGGCACAGGATGCGGTCTGGTAGCTGCTGCTTCTCTTCTGCAGAAGCGCAGCCAAGCACCCTCTGGGGTTTCAGGCCCACACCCAGCCTGAAGTTCTGGGAGTGGCTCACTTTCCAACCTTCAGGGTCTCCCAGCAGCTGACTGGGGAGTGGTGGAGGGAAAAGGGATTGTATTAGTCCGTTTTCACGCCGCTGATGAAGACATACCCGATACTGGGCAGTCTAAAAGATAGAGGTCTGATGGACTCACAGTTCCACGTGACTGGGGAGGCCTGACAATCATGGTGGAAGGTGAAAGGCTTGTCTCACACGGTGGCAGACAAGAGAAAAGAGCTTGTGCAGGGGAACTCCCCTTTATAAAACCATCAGATCTCGGGAGACTTATTCACTATCATGAGAACAGCACGGGAAAGACCCTCCTCTATGATTC
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Task1_train_24823
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Here’s a variant in MAPT (microtubule associated protein tau) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Frontotemporal dementia
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCACGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCATGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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Task1_train_24824
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A variant was discovered on Chromosome 17, affecting MAPT (microtubule associated protein tau). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Progressive supranuclear palsy-parkinsonism syndrome
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCACGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCATGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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Task1_train_24825
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This is a variant in MAPT (microtubule associated protein tau), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Supranuclear palsy, progressive, 1
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCACGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCATGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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Task1_train_24826
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A genomic change on Chromosome 17 affects MAPT (microtubule associated protein tau). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Pick disease
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCACGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCATGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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Task1_train_24827
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The following genetic variant occurs in MAPT (microtubule associated protein tau) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Frontotemporal dementia
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCACGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCATGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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Task1_train_24828
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A genetic alteration is present in MAPT (microtubule associated protein tau) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Parkinson disease, late-onset
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCACGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCATGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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Task1_train_24829
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A genetic alteration is present in MAPT (microtubule associated protein tau) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Progressive supranuclear palsy-parkinsonism syndrome
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCACGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGTGACAAGGTGAATCTTTGTCTCAAAAAAAAAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCATGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGG
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Task1_train_24830
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A change on Chromosome 17 affects gene KANSL1 (KAT8 regulatory NSL complex subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Koolen-de Vries syndrome
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CAATGGTCTCAATTCTCAGCCTTCATCTTACTGATCCTGTCTGTAACAACTGACACAGACAATCCCTCCTCCTCCTCCCTCTCCAAAACACTTTCTCCCCTTGCCTTTCACATACCACACTCTCTTGGTTTTTCTTCTACTTTATTCGTCACTCCCTTCCCAATCCTTTCCTCATCTTTCACAGGAATGAGGAGGAATACCTAAGCTCTGGAATACATCAAAGGGCTAATCCATATACCTCTTCTTTATCTGAGCTCTCCAGCACTCTCTATTCCCTCCTCTATTGCATTTCTCTCTCCAGGATTTTTTTTAATTAATTAATTTTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTAGTTACATATGTATACGTGTGTTTTTTTTGTTTGTTTTTTTGTTTTTTTAAAAGACAGAGTCTCAATCACTCTGTCATCCAGGCTGGAGTGCAGTGGCACAACCATGGTTCACTGCAGTGTCAACCTGGTGGGCTCAAATGATCCTCCCGCCTCAGCCTCCTGAGCAAATGGACTACACACGCTCGCCCACAGCAGGCTTTTTTTTTTTTTAAAGATATGGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTGAACGCAAGTGATCCTCCTTCCTCAGCCTCCCAAAGTGCCAGGATTACAGGTATGAGCCACTGTGCCTAGCCTCTCTCCAAGATTTAATGCTATAGGACACACTGCAGAGTTCATTTATTATTTTCTTTCTCTTAACAACTAGAATATTTCATAGGGTAAGCACTTTTGTCTGTTTTGTTTAGTGTTGTATACCCAGTGACTAGACAGATTTAGCTCGTTGCAGGAAGCCAATAAATATTTGTTGAAAGAATGAATGAACAACAACAAAAGTGGTAACAATAACAGCCACTTTGTACGAGGAACTTATCAACCAGACATCCCAATAAGCATGTTACATATATTTCATTGAACCCTCAAACAACCCTATGAGATCTCTGAGGCTTTGGAGAGGAGTGGAAGTCAGGGTGGTTAACATGCACCAAATTACCAAACTACTAAGTGGTAGTACCATGATTCAAACCCAAGGTTATCATCTTCAAAGATAATGCTCTTAATTCCTGCACAGTACCAATTTTACTGGAATATTATTATCTCATTAGTTTTGGAATAAAGGCAACTGCTATTTGAAGAGTCAGCAATCTAAAATTCCCTACAGTTGTGAATTAATCTCCATTTCCTTTGTGAAGACAAACTTTTTTTTAGTAATATCAATTTAAAAACTTTAGTGAAGATTCCTTTTTTTCTCAGGCAGGGTCTCACTCTGTCACCCAAGCTTAAGTACAGTGGCACAAATACAGCTCAAAGCAGCCTCAACCTTATGGGTTCAAGCAATCCTGCCTCGGCCTCCTGAATAGCTGGGACTACAGGTGTGCACCACCATGCTTAATTTTTAAATACTTTGTAGAGATGAAGGTCTCACTATATTTTCCAGGCTGGTATTCAATTCCTAGGCTCAAGCAATCCTCCCGCCTTGGCCTCCCGAAGTGTTGGGATTACAGGCATGAGCCACTGCACATGGCCAAGATTCTTTTTTAGGGCAAAGGATTCTATACTGCCATTTTCAGTGATAACAGTGAAGGTGAGAGGGCACACTATTCTCCTTCAAAGTGTTAAGGGCAGTACTTAAACTTTCAGTCTCTCCCATTTCTATTAAAAAGCTCAAGACAGTGGTTTTCAAAACTAGCTGCAGAGTCACCGAGGAGCTTTGTGTTTTCTGAAAACAAGATTCCAACATCCAACTCCAGAGCAAACAGGGCCCAGGAACCTAGTATTTTATAAAGCTCCCCAGAAGACCTTGGTGGTTAGCCAAGTTTAGAAAACACCAAAGTTGGCAAGAGACTAACTCTATCTGAGCATCTGGCTCACTGCTTGACAATGACCAACTCTCATCTGTACCGACCTTCTTGGAAAGAGGAACGATGCTGTTGGGTCGAACAAGCCTCCGCTTCTTACAGCTCAGTACAGGACGTGTCCGGGCTGCCACACAGGTGCCATCAGATGATGAAGAGACGAGATTCAGTCGTTGCTTCTTATGTAATTGTTCCTCAGCATCAGAGCTGTCACCTGGAATGTGGTCTGCCAAGACAGGCTGAAGACTATACAAGGGGAAGGAAGAGTATTCTCAGAACACACAAAGAAACAAAATAAATAAACAACAAGAAAACACAAAGAAACAAAGCCTCTTATACTAGTTCAACCTCTATTTGCTAATGTTCAGACACAAAGAAGCATTCTAGAGCAGAAGCAGGTCTCCTCTTGATGTCTGTTAATCTACCTGTGTGTGCTTATGTGTAAGGTTCTTGGTGCACATTAACTACATCATGTCTGAAAGATAAAAGTCAATAAATAAACTCAAGTTCTAGTGATTGAGTTCTCCTCTACATCAAACACACGAGTAAATAAAGTCTAGAGAACTACAGTTGGTTAGAAAATGATGAATTTTGCAAATGTTAATGGGCTTCCTTAGAATCAGTTCTATGAAACCCGAATTTTAAGGGTGTTGTACACATCATTCACTTGTACAGAATCTCCCTGAATCTTTTGTTTTCTCCCTTGAATCTTCATAAATACAGATTTACAAACATAGCCCTTGGAGATCTAATCTGTCCTAAGCAGAGGAGGTTAATATAAGCACTTCTGAGGAATTCCTGCAAGATTAAAACAATAATAATTCACAGTAACTGTAGTGTCTTTTATTTTACTCCATGCCCACTCCATTTTAGTAGGTAAAAGGAAAATATACAATTAATTAAAATGCACTGCTTCATTATACAGTGAAGATTAAAAATGTTACTAAGTGATAAGGCTTCCGCTTCTTTAAACCAGGGTCAGTCCTGGCTAAAGAGAACTAAGAGCTCCAAAACACCTTTACAAGTCTACTAAGTGTAGGAAGTAGAAGAGCTAAAACTTACGTGTTAATAACTCCATTGACAGGTCTGAGTGCTCCACATGATTTGGTAGACAGTGACTCTGAAATATGACCAATAATAGGGGCACCATGGTTTTCCAATGGCTGAGAAACAGACTCAATCTGATTAAGAAAAAGGAAAAAAGAAATTAACATGTACCCAAGCGCACCCCTGCCTGAAAAGCACCACCACTTCATTTGCACAAAGCACCTAAAACTTCTGATGATCAATTTGAAAAACACAACTTGAATGACTGAAGAAAAAGAAAATAAGAGAATCAGTGGTCAGGTATGATGGCTCGCAACTATAATTGCAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTGAGACCAGGAGTTTTGAGACCAGCCTGGGCAACACAGCGAGACCTCATCTCTAATTAAAAAGAGAGAGAGAGAGGTTGACAGAGAGAAGGAGAATATTATATTAGCTTTTGCTTTGGGGGGAAGAGGGATGAGGAATCCAAATGTACAGACTAAAAGTAAGTACCTATTGACAGGAAAATGACCTCAATAATTCTATGGAACAGAAGCTTAGCAAAACAATTACACAGTAACATAAGCTTTCAACTAATGATCAAGAAGGATATACTAACATCAGTATCAAGATGACTAAGAGGAAATTTAAATGTAGTTAATATCTGCTTAACTCTAACAGAGTATGCTAGAAGCTTGTTTTCTAAAAACTATGCTTTGTTTAAAAATATACACACAGGCCGGGGATGGTGGCTCATGACTGTAACCCCAGTATTTTGAGAGGCAAAGGTAGGAGGATCTCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATGACAAAACCCCATCTCTACAACAAAAAAATACAAAATTAGCCGGGCATGGTGGTGCGTGCATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGAGGATCACCTGAGCCAGGAGGCAGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAATGAATAAATAAATAAATAAACACACACACACATTTTTCCCTGACAGAAAACAAAGTTAATAAAATCTCAATGAATCTAATTATCTGA
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CAATGGTCTCAATTCTCAGCCTTCATCTTACTGATCCTGTCTGTAACAACTGACACAGACAATCCCTCCTCCTCCTCCCTCTCCAAAACACTTTCTCCCCTTGCCTTTCACATACCACACTCTCTTGGTTTTTCTTCTACTTTATTCGTCACTCCCTTCCCAATCCTTTCCTCATCTTTCACAGGAATGAGGAGGAATACCTAAGCTCTGGAATACATCAAAGGGCTAATCCATATACCTCTTCTTTATCTGAGCTCTCCAGCACTCTCTATTCCCTCCTCTATTGCATTTCTCTCTCCAGGATTTTTTTTAATTAATTAATTTTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTAGTTACATATGTATACGTGTGTTTTTTTTGTTTGTTTTTTTGTTTTTTTAAAAGACAGAGTCTCAATCACTCTGTCATCCAGGCTGGAGTGCAGTGGCACAACCATGGTTCACTGCAGTGTCAACCTGGTGGGCTCAAATGATCCTCCCGCCTCAGCCTCCTGAGCAAATGGACTACACACGCTCGCCCACAGCAGGCTTTTTTTTTTTTTAAAGATATGGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTGAACGCAAGTGATCCTCCTTCCTCAGCCTCCCAAAGTGCCAGGATTACAGGTATGAGCCACTGTGCCTAGCCTCTCTCCAAGATTTAATGCTATAGGACACACTGCAGAGTTCATTTATTATTTTCTTTCTCTTAACAACTAGAATATTTCATAGGGTAAGCACTTTTGTCTGTTTTGTTTAGTGTTGTATACCCAGTGACTAGACAGATTTAGCTCGTTGCAGGAAGCCAATAAATATTTGTTGAAAGAATGAATGAACAACAACAAAAGTGGTAACAATAACAGCCACTTTGTACGAGGAACTTATCAACCAGACATCCCAATAAGCATGTTACATATATTTCATTGAACCCTCAAACAACCCTATGAGATCTCTGAGGCTTTGGAGAGGAGTGGAAGTCAGGGTGGTTAACATGCACCAAATTACCAAACTACTAAGTGGTAGTACCATGATTCAAACCCAAGGTTATCATCTTCAAAGATAATGCTCTTAATTCCTGCACAGTACCAATTTTACTGGAATATTATTATCTCATTAGTTTTGGAATAAAGGCAACTGCTATTTGAAGAGTCAGCAATCTAAAATTCCCTACAGTTGTGAATTAATCTCCATTTCCTTTGTGAAGACAAACTTTTTTTTAGTAATATCAATTTAAAAACTTTAGTGAAGATTCCTTTTTTTCTCAGGCAGGGTCTCACTCTGTCACCCAAGCTTAAGTACAGTGGCACAAATACAGCTCAAAGCAGCCTCAACCTTATGGGTTCAAGCAATCCTGCCTCGGCCTCCTGAATAGCTGGGACTACAGGTGTGCACCACCATGCTTAATTTTTAAATACTTTGTAGAGATGAAGGTCTCACTATATTTTCCAGGCTGGTATTCAATTCCTAGGCTCAAGCAATCCTCCCGCCTTGGCCTCCCGAAGTGTTGGGATTACAGGCATGAGCCACTGCACATGGCCAAGATTCTTTTTTAGGGCAAAGGATTCTATACTGCCATTTTCAGTGATAACAGTGAAGGTGAGAGGGCACACTATTCTCCTTCAAAGTGTTAAGGGCAGTACTTAAACTTTCAGTCTCTCCCATTTCTATTAAAAAGCTCAAGACAGTGGTTTTCAAAACTAGCTGCAGAGTCACCGAGGAGCTTTGTGTTTTCTGAAAACAAGATTCCAACATCCAACTCCAGAGCAAACAGGGCCCAGGAACCTAGTATTTTATAAAGCTCCCCAGAAGACCTTGGTGGTTAGCCAAGTTTAGAAAACACCAAAGTTGGCAAGAGACTAACTCTATCTGAGCATCTGGCTCACTGCTTGACAATGACCAACTCTCATCTGTACCGACCTTCTTGGAAAGAGGAACGATGCTGTTGGGTCGAACAAGCCTCCGCTTCTTACAGCTCAGTACAGGACGTGTCTGGGCTGCCACACAGGTGCCATCAGATGATGAAGAGACGAGATTCAGTCGTTGCTTCTTATGTAATTGTTCCTCAGCATCAGAGCTGTCACCTGGAATGTGGTCTGCCAAGACAGGCTGAAGACTATACAAGGGGAAGGAAGAGTATTCTCAGAACACACAAAGAAACAAAATAAATAAACAACAAGAAAACACAAAGAAACAAAGCCTCTTATACTAGTTCAACCTCTATTTGCTAATGTTCAGACACAAAGAAGCATTCTAGAGCAGAAGCAGGTCTCCTCTTGATGTCTGTTAATCTACCTGTGTGTGCTTATGTGTAAGGTTCTTGGTGCACATTAACTACATCATGTCTGAAAGATAAAAGTCAATAAATAAACTCAAGTTCTAGTGATTGAGTTCTCCTCTACATCAAACACACGAGTAAATAAAGTCTAGAGAACTACAGTTGGTTAGAAAATGATGAATTTTGCAAATGTTAATGGGCTTCCTTAGAATCAGTTCTATGAAACCCGAATTTTAAGGGTGTTGTACACATCATTCACTTGTACAGAATCTCCCTGAATCTTTTGTTTTCTCCCTTGAATCTTCATAAATACAGATTTACAAACATAGCCCTTGGAGATCTAATCTGTCCTAAGCAGAGGAGGTTAATATAAGCACTTCTGAGGAATTCCTGCAAGATTAAAACAATAATAATTCACAGTAACTGTAGTGTCTTTTATTTTACTCCATGCCCACTCCATTTTAGTAGGTAAAAGGAAAATATACAATTAATTAAAATGCACTGCTTCATTATACAGTGAAGATTAAAAATGTTACTAAGTGATAAGGCTTCCGCTTCTTTAAACCAGGGTCAGTCCTGGCTAAAGAGAACTAAGAGCTCCAAAACACCTTTACAAGTCTACTAAGTGTAGGAAGTAGAAGAGCTAAAACTTACGTGTTAATAACTCCATTGACAGGTCTGAGTGCTCCACATGATTTGGTAGACAGTGACTCTGAAATATGACCAATAATAGGGGCACCATGGTTTTCCAATGGCTGAGAAACAGACTCAATCTGATTAAGAAAAAGGAAAAAAGAAATTAACATGTACCCAAGCGCACCCCTGCCTGAAAAGCACCACCACTTCATTTGCACAAAGCACCTAAAACTTCTGATGATCAATTTGAAAAACACAACTTGAATGACTGAAGAAAAAGAAAATAAGAGAATCAGTGGTCAGGTATGATGGCTCGCAACTATAATTGCAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTGAGACCAGGAGTTTTGAGACCAGCCTGGGCAACACAGCGAGACCTCATCTCTAATTAAAAAGAGAGAGAGAGAGGTTGACAGAGAGAAGGAGAATATTATATTAGCTTTTGCTTTGGGGGGAAGAGGGATGAGGAATCCAAATGTACAGACTAAAAGTAAGTACCTATTGACAGGAAAATGACCTCAATAATTCTATGGAACAGAAGCTTAGCAAAACAATTACACAGTAACATAAGCTTTCAACTAATGATCAAGAAGGATATACTAACATCAGTATCAAGATGACTAAGAGGAAATTTAAATGTAGTTAATATCTGCTTAACTCTAACAGAGTATGCTAGAAGCTTGTTTTCTAAAAACTATGCTTTGTTTAAAAATATACACACAGGCCGGGGATGGTGGCTCATGACTGTAACCCCAGTATTTTGAGAGGCAAAGGTAGGAGGATCTCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATGACAAAACCCCATCTCTACAACAAAAAAATACAAAATTAGCCGGGCATGGTGGTGCGTGCATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGAGGATCACCTGAGCCAGGAGGCAGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAATGAATAAATAAATAAATAAACACACACACACATTTTTCCCTGACAGAAAACAAAGTTAATAAAATCTCAATGAATCTAATTATCTGA
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Task1_train_24831
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A genetic alteration is present in KANSL1 (KAT8 regulatory NSL complex subunit 1) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Koolen-de Vries syndrome
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GTAACTTAAATAGTCAACAAAGAAAGCCAATAGCATGCAGCCATTAAAAATGTTTTCCAAAAACCAACTGGGAAATATTCAGGGCACATACGTAACATGACTGTATTTGAACAAATTACTTATGTGCTAGGAAAATGTACCATAATGTTGGTAGCGAGATAATTTTGAGCTGTTGGGTTGTTTTTTTTTTTTTGGGGGGGGGGGGGGAGGGTGGGTGTCTTTTATACTTCTATGTCATTTCAGTTTCCTGAGAATTGATACACAGTATTTCATCAATTCTAAGAGGTACTCTCCCCACATGTCAACAACTTTTAAATCAAGATGCATTTTACAATTTCTGTTATGCCCTGGTTTAACTGAAATAATTTCTTTGTCGTACTTAAAACAATGGTACATCTTACAATCAATAGCATCTTAAGTTCTATGAAATGTAGCAGTTTTATAACAAGGAACTAAGATGATATAACATATACACATATATAAACCCACATATATATTTATGAATGTATATAAAAAGATGAAGCAGCACTTATGACTACTATTATACTAATCTCAGTTGTTACTAAGAGACTCTAGTTCTCAAATATAGAAAATCCCACTTAACTACTGGCTATAAAAACCTAGAAACAGACACTGAAGAGGTGTCTCTGATAGAGAAAGACTGTGTTTTTCTCCTCAGTACAGGCATATCCAGTCACCTCCTAGTTATTCTTAGTCATCATTCCAGTTCAAGTTCTACAAATCTCACTTTAAAATTTCCTTTGTGAAGACTTGGGAAAGCAAAATATGCACCAAATCTAGAATGTTTATTAGTTTTGTTCCAGCTAATTTTTAAATAAGTAAATCAGGATTTAATTTGTATGCTACCCTAAGGGAACAAACTAGTAAGAATAAAAAAGTGAGCCCTCTGGACTGTGTCCTCAATTAAAGTATGCTCTATTGAACTTTTAGGGGGAGGGGGAATATATATATATATATGTATCTCCAATCTGGAAAGAAGCTATAAGTCCGCAGTGACATTTTTAGAATAAAAGTTTAAATGATTAGATAGCCCACAGAACTTTCACTTCAAACCCTGATCATTCTGTTCATTTTATCAGTTGATCAACCTTCAACTTTTGGCCTACTAATTTAATGGATACTGTTCACAGGAAAGCCATTTTCTTAAGGCTTTGACTAGTACTAAGGTCAAAAAGGCATTTTGACCCTTATTTTTAGTAGCAATAGACTTTTTCTAGACATGGGTCTACATAAAGATAGAGCTCAGCCACACCAAGCTAATATAAAAAATACTTTGCAAGAATGTAAGCTTCATGAAGGTAGGATTTTTGAGAACACTGCTGAGACACAGTAAGCACTTAAAATAATGGTACATCTTACCATCAGTAGCATCTTAAGTTCTATGAAATGTGGCAGTTTTATAACAGGGAACTAACAAATATAAATCTAACAAATATGACAGTTAACATCAATGGCTTGCTTGCATTATTCAGTCTGTTTTCCTTGTTTCCTGTTAGCTCAGATACCCACACAGTTTTGTTCTAAATACACGTTCAGTTAAACATTATATTCTAATAGTGTTTTCCTTTTTATGAGACAGGCCTTTCTTAGTTGTCCAGGCTGGAGTGTGGTGGCACAATCTTGGCTCACTGCAACCTCCACTTCGTGGGCTCAAGCGATACTCCCACTTCAGCCTCCTAAGTAGCTGGGACTACAGGCACATGCTATCATGCTCAACTAATTTTTGTAATTTTTGTAAAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAAATGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATCACAAGAGTGAGCCACCACGCGCAGCCACATCAGGTTCTTAAATTAAACCACTATATCAGGTCATTAAACCATTTACTTTGCAATAGTTAAGAAGAGGGTTATGGGGGTTACGAGGTGGGAGGGGATGTGAGAAAAGCGATATTGATAGTTTTCGGCAGCATTTAAAAACATCAGATACTTATCCCTTACCTTATTAGCACGTATCTGTTTGTAAATGTCTGTTTGCTGACGAATTCGATATTCCAAGTCAGAAACATGAGCCTGAAGCCAGTTCCAGCGGCTGACAATAGCTGCCCGGTCTGCAGCCCATTTCCATTCTGACCTGCGTCTCCTAAAAGGAAATAAACTGAGTGAAATCCAAGAGTAGCAGTAATATCTATACCAGATTGGGGGGTGGGGAGTGGAATTTAACTTTTAAAGGCCCTTGCAGAGACTAACTCTAGTGTCAAGAAAAACCCAAGAGAGAGACAAGACACCTCCCGCTCATCAGGATGCACATGGATATAAACTTCCAAATAGGTATTTCCCAAATTAAGTGGAACTGCGTTCTAGCATCCTGATCCTGTGGCACACAGTTTCTCTGAAATCCCTTTAATTTCTCTGGGACAATAAAATTATTGTCCATGCCAAAATAAAACATACATTAAGAATAATCTATACAGGAAATCCAACTGACACTAAGAATTATTAAAACTAATAAAGAATTCAGCAAAAGTGTTCAGTAAAGAATATTTAAAAACTAATAAAGTAGAAAATATCATTAAGTACCATTCATAACACCAACAAAACTAATGATATATTAAATATCTTTACAGAGAAAATAACGCCTGAAAGCATGAAGATCTATACAAATGGTAGGACACATTTTTTTAGGATGGCGATTCTCATGAACATCTATAAATTCAAAGAAATTCCAATCAAATTGCCTACAGTATTTTTAATGAAAGCTGAGAAACAGATCTAAAAGTTCACATGGAATAAAGGACCAACAGCAAGAAATTTGCAAGAAGGCATGATGCAAATACACATTACCAGACAGCCAGATTTGCTGCAAAACTATAGAGAGCCTCAAAACGTAGAACTAGATACATAAAAGATAACGGGAAATTTTTAAAAAATCAGATCAGTGCAGAAACGATCAAACTACTCAATAAATAGTACTAAACTGGCCAGTTCTTTAAAGGAAAAAGTAAAATTAGTTCCCTTCTTCATGATATAATTACAAAATTTTGGCATTTCAAATTGCTAAATATGAACAGCCAAACTTAAAAGAATATCTTCGGGACTTAGAGCAGGGAGCATTTCTTAGATAATACACAAAGATTTCACCTACTTTTCAACATACAATAGAAAATCTAATAAAGTTAAAAGGCCAACTACATTTTGGTGGAAGATATCTAACACATATAACTGACGATTAAACATCAGAATATGTAACAGAACTCTCAGAAATAGGATAAAAGAAAAAAAGACAATCTTAACAGAAATAGGAAATTCACATAAAAGGCAAATAATAAATATATAAAAATGTGTCATCTCGTTAAAATTTGGTTAAAATATAAATATTAGGTAAAACATTAAGATGCTGTTTGAAATCTGGATGGGAAAACGCACAGTCTCATAAAGCCAACAGGTGGTGAGAAATGGAAAAGAGCAATTAATATATTGCTGGTAACAGTTAAAATTGGAACCACCATTTTTGAAAAATAATTTGAAAATACTTAGCGAGGTGTAAAATGTGCATACCCAACCATCATGATACTGTATTTTTTTTTTTTTTTTCCTGAGAGGCAGGGTCTCACACTCTATCATTGAGGCTGGATTGTGGTGGTGCAATCACAGCTCACTGTAACCTAGAGTTCCTTTGCTTAAGCTATCCTCCCACCTCAGTCTCCCAAGCAGCTAGGATCAGGAGCATACTACATACCTGGCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCTTTCACTCTGGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTTGGCTCACCACCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGACACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGGGATCCGCCCACCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCACCCAGC
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GTAACTTAAATAGTCAACAAAGAAAGCCAATAGCATGCAGCCATTAAAAATGTTTTCCAAAAACCAACTGGGAAATATTCAGGGCACATACGTAACATGACTGTATTTGAACAAATTACTTATGTGCTAGGAAAATGTACCATAATGTTGGTAGCGAGATAATTTTGAGCTGTTGGGTTGTTTTTTTTTTTTTGGGGGGGGGGGGGGAGGGTGGGTGTCTTTTATACTTCTATGTCATTTCAGTTTCCTGAGAATTGATACACAGTATTTCATCAATTCTAAGAGGTACTCTCCCCACATGTCAACAACTTTTAAATCAAGATGCATTTTACAATTTCTGTTATGCCCTGGTTTAACTGAAATAATTTCTTTGTCGTACTTAAAACAATGGTACATCTTACAATCAATAGCATCTTAAGTTCTATGAAATGTAGCAGTTTTATAACAAGGAACTAAGATGATATAACATATACACATATATAAACCCACATATATATTTATGAATGTATATAAAAAGATGAAGCAGCACTTATGACTACTATTATACTAATCTCAGTTGTTACTAAGAGACTCTAGTTCTCAAATATAGAAAATCCCACTTAACTACTGGCTATAAAAACCTAGAAACAGACACTGAAGAGGTGTCTCTGATAGAGAAAGACTGTGTTTTTCTCCTCAGTACAGGCATATCCAGTCACCTCCTAGTTATTCTTAGTCATCATTCCAGTTCAAGTTCTACAAATCTCACTTTAAAATTTCCTTTGTGAAGACTTGGGAAAGCAAAATATGCACCAAATCTAGAATGTTTATTAGTTTTGTTCCAGCTAATTTTTAAATAAGTAAATCAGGATTTAATTTGTATGCTACCCTAAGGGAACAAACTAGTAAGAATAAAAAAGTGAGCCCTCTGGACTGTGTCCTCAATTAAAGTATGCTCTATTGAACTTTTAGGGGGAGGGGGAATATATATATATATATGTATCTCCAATCTGGAAAGAAGCTATAAGTCCGCAGTGACATTTTTAGAATAAAAGTTTAAATGATTAGATAGCCCACAGAACTTTCACTTCAAACCCTGATCATTCTGTTCATTTTATCAGTTGATCAACCTTCAACTTTTGGCCTACTAATTTAATGGATACTGTTCACAGGAAAGCCATTTTCTTAAGGCTTTGACTAGTACTAAGGTCAAAAAGGCATTTTGACCCTTATTTTTAGTAGCAATAGACTTTTTCTAGACATGGGTCTACATAAAGATAGAGCTCAGCCACACCAAGCTAATATAAAAAATACTTTGCAAGAATGTAAGCTTCATGAAGGTAGGATTTTTGAGAACACTGCTGAGACACAGTAAGCACTTAAAATAATGGTACATCTTACCATCAGTAGCATCTTAAGTTCTATGAAATGTGGCAGTTTTATAACAGGGAACTAACAAATATAAATCTAACAAATATGACAGTTAACATCAATGGCTTGCTTGCATTATTCAGTCTGTTTTCCTTGTTTCCTGTTAGCTCAGATACCCACACAGTTTTGTTCTAAATACACGTTCAGTTAAACATTATATTCTAATAGTGTTTTCCTTTTTATGAGACAGGCCTTTCTTAGTTGTCCAGGCTGGAGTGTGGTGGCACAATCTTGGCTCACTGCAACCTCCACTTCGTGGGCTCAAGCGATACTCCCACTTCAGCCTCCTAAGTAGCTGGGACTACAGGCACATGCTATCATGCTCAACTAATTTTTGTAATTTTTGTAAAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAAATGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATCACAAGAGTGAGCCACCACGCGCAGCCACATCAGGTTCTTAAATTAAACCACTATATCAGGTCATTAAACCATTTACTTTGCAATAGTTAAGAAGAGGGTTATGGGGGTTACGAGGTGGGAGGGGATGTGAGAAAAGCGATATTGATAGTTTTCGGCAGCATTTAAAAACATCAGATACTTATCCCTTACCTTATTAGCACATATCTGTTTGTAAATGTCTGTTTGCTGACGAATTCGATATTCCAAGTCAGAAACATGAGCCTGAAGCCAGTTCCAGCGGCTGACAATAGCTGCCCGGTCTGCAGCCCATTTCCATTCTGACCTGCGTCTCCTAAAAGGAAATAAACTGAGTGAAATCCAAGAGTAGCAGTAATATCTATACCAGATTGGGGGGTGGGGAGTGGAATTTAACTTTTAAAGGCCCTTGCAGAGACTAACTCTAGTGTCAAGAAAAACCCAAGAGAGAGACAAGACACCTCCCGCTCATCAGGATGCACATGGATATAAACTTCCAAATAGGTATTTCCCAAATTAAGTGGAACTGCGTTCTAGCATCCTGATCCTGTGGCACACAGTTTCTCTGAAATCCCTTTAATTTCTCTGGGACAATAAAATTATTGTCCATGCCAAAATAAAACATACATTAAGAATAATCTATACAGGAAATCCAACTGACACTAAGAATTATTAAAACTAATAAAGAATTCAGCAAAAGTGTTCAGTAAAGAATATTTAAAAACTAATAAAGTAGAAAATATCATTAAGTACCATTCATAACACCAACAAAACTAATGATATATTAAATATCTTTACAGAGAAAATAACGCCTGAAAGCATGAAGATCTATACAAATGGTAGGACACATTTTTTTAGGATGGCGATTCTCATGAACATCTATAAATTCAAAGAAATTCCAATCAAATTGCCTACAGTATTTTTAATGAAAGCTGAGAAACAGATCTAAAAGTTCACATGGAATAAAGGACCAACAGCAAGAAATTTGCAAGAAGGCATGATGCAAATACACATTACCAGACAGCCAGATTTGCTGCAAAACTATAGAGAGCCTCAAAACGTAGAACTAGATACATAAAAGATAACGGGAAATTTTTAAAAAATCAGATCAGTGCAGAAACGATCAAACTACTCAATAAATAGTACTAAACTGGCCAGTTCTTTAAAGGAAAAAGTAAAATTAGTTCCCTTCTTCATGATATAATTACAAAATTTTGGCATTTCAAATTGCTAAATATGAACAGCCAAACTTAAAAGAATATCTTCGGGACTTAGAGCAGGGAGCATTTCTTAGATAATACACAAAGATTTCACCTACTTTTCAACATACAATAGAAAATCTAATAAAGTTAAAAGGCCAACTACATTTTGGTGGAAGATATCTAACACATATAACTGACGATTAAACATCAGAATATGTAACAGAACTCTCAGAAATAGGATAAAAGAAAAAAAGACAATCTTAACAGAAATAGGAAATTCACATAAAAGGCAAATAATAAATATATAAAAATGTGTCATCTCGTTAAAATTTGGTTAAAATATAAATATTAGGTAAAACATTAAGATGCTGTTTGAAATCTGGATGGGAAAACGCACAGTCTCATAAAGCCAACAGGTGGTGAGAAATGGAAAAGAGCAATTAATATATTGCTGGTAACAGTTAAAATTGGAACCACCATTTTTGAAAAATAATTTGAAAATACTTAGCGAGGTGTAAAATGTGCATACCCAACCATCATGATACTGTATTTTTTTTTTTTTTTTCCTGAGAGGCAGGGTCTCACACTCTATCATTGAGGCTGGATTGTGGTGGTGCAATCACAGCTCACTGTAACCTAGAGTTCCTTTGCTTAAGCTATCCTCCCACCTCAGTCTCCCAAGCAGCTAGGATCAGGAGCATACTACATACCTGGCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCTTTCACTCTGGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTTGGCTCACCACCAACCTTCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGACACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGGGATCCGCCCACCTCGACCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCACCCAGC
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Task1_train_24832
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A genomic change on Chromosome 17 affects LRRC37A2, NSF (leucine rich repeat containing 37 member A2| N-ethylmaleimide sensitive factor, vesicle fusing ATPase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Developmental and epileptic encephalopathy 96
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GCTCCAAGTGCTGATAAAGGCCTTGATGCTTCTCCAGATGTCTAAATGCTAGCTCCAGGTGCAGTAAGCAGACTATTTGGAGCTGGCACATAGATTCTGAAGCACAATGTATTAATACAAATGAAAGTTTTAGGTTCTTGGTCTCCTAGAGTAATGGTTCTTAAGCCTGGTTCAGTACCAGAATCACCTGTGGTACTTGGTAAAACTATAAAGACCCTCTAATAGGCCTGTTAAATCAAAATCCCGTGGGGAATGGGACTGAGCGCCTGTATATCTCTGAAGGCTCTGGAGGTTATTCTGATATGCAGCCAAGTATGGCTGTGTTTTCATTTCTGTATATATTTTCTTTTTGTATGGATTTTTCACTGTTCTTACTCTCTGTATGTATTTTTTCTTACTCATGCCTCATGAGTTAAAATGGCTATACAGTGTCCCTTGGTACAGATGTGTTCTAATTTACATAACTGATCCCCTCTTGGTAGACATTATTAATATGCTTCCCATCTTTTTTCATAACAAGTTACTTTAGTAGATATACTTGTACATATAACTTTGTACACATTTGTGAATATATTTAGGGGATAAATTACTAGAAGTGGACTTGTTCAGAGGATATATATATTTGTGAATTTGAGAGATGTGTTTTCTTTGATTCCAATTTTTAAAATTGTTTTAAAATGCCCATAAAATTGTCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGTGGTCACAAGGTCAGGAGATCAAGACCATCCTAGCTAATATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGCGTCCGAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAAAAACAGAAAACCATAAAATTTACCGTGTAACCATTTTAAATGTACAATTCAGTGGCATTAAATACATTCTTAATGTTGTGCAACCATCACTACCATTCATCTCCAGACCTCTTTTCATCTTGTAAAACTAAAACTCCATACCCATAAACAGTAACTCCCCATTCCTTCCTCTCCCTATCCCCTGGCAGCCACCATTTTACTTTCTGTCTCTTGGATATCAGCTACTCCAGGAACCTCATATAAGTGGATTGTACAGTATTTGCTTATTTAACTTAGCATATGGTCCTCAAGGTTCGTCATGTTGCAGGATATCAGAATTTTCTTTCTTTTTAATGCTGAATAATATTCCATTGTATGTACGTAACACATTTTGTTTATCCATTCCTCTGTCAATGGTCATATGGATTTCTTCCACATTTTAGCTATTGTGGGTAATGCTGTCATGAACAAGGCTGTACAGATATCTCTTCAAGACCCTGTTTTCAGTTCTTTGGGGGTATATACCCAGAAGTGGAATTGCTGGATCATATGATAATTCTATTTTTAATTTTATGAGGAACCACCATATTTTTGTTTTCCACAGTGACTCAACCATTTTACTTATGTTCCCACCAACAGTGCATAAGGGTTCTGATTTCTCCGCATCCTCACCAACACTTCTTATTTTCTGCATTTTTGTGGTAGTAGCCATCCTAATGAGTATGAAGTGAAATCTCTTTGTAGTTTGGATTTGCATTTCCCTAATGATTAGTGAGGTTGAACATCTTTTCATGTGCTTATTTAAGGCCATTTGTATATCTTCTTTGGAGAAATGTTTGTTTAAGTTCTTTGCCCATTTTTTATTTAGTTTTTTGTTGTTCAATTTTGGCAGTTCTCTATGTATTCTGGATATTAATCCCTTATCACATATATGGTTTGCAAATATTTCAGATTTTTTTATGTGTGAAAATATGCTTTTAAATCCTCAAGAGTTACGTTCTTAAACTGAATATATTCTTAACTATTCTTAAATCTTGGAAGTCCTTACATTTTGTTTTTATCTCTTCTTAGGCCAGTACTAAAGTGGAAGTGGACATGGAGAAAGCAGAAAGCCTGCAAGTGACGAGAGGAGACTTCCTTGCTTCTTTGGAGAATGATATCAAACCAGTGAGTATGCCCATTGAGTGATATATAGGCCAAAAAGTAATGATAATAATAACTCAGGCGAAAAGTAAGTGCCATTTACTCAGTATTATGGAAGGTTATAGCATATGCAGTTTCATAAAATGAGAAAATTTTAGTATTGGAAATGTTCAGTATGAGAAACATCTGTACAATAATCCTAGTGGCTGGTGATATTATTTACTGAAATATTTTCATGATAGGAAGCTTACCATCTTGTAAGGCAGGCCATTCAATTTTGAGACTTTCCAGTTATTGTTTTACTTTATATTGAACTAGAACTAATTTTCTTATTGGTTCTTATACAATCCCAAGCTACAGAAACCTAACTTCAGTCCATCTTCCATATGTCAGTTATTAGGATATTTAAAATTAACTCTCATATCCTCCTCTGTCTCTCTCTCTCTCTCTCTTTCTCTTCCTTTCCTCAGCCTCTTCCAAGGCATCCCTTTTTCTTGCTCAGTACATTTAGTTTCTCTGACTACTATAGTTTCTAAGACTTAAAAAGTGTCAGTTTTCTTAAAACGCACTCAAAATGGTCATAGTTGGAGCTTTAGAATACAGTTTAAGGTTATTAACCCATTTTCCTATAAAACAACTACTAACATTTGAGTAACTTTTGTTTAGAGTCCTGTGTTAATACAAAAACAAATTGTAGAAAGTCCCAGTTCTTAAAGAAGTGTGTGCTTTTCTTTCTTAAATGGACCTCAGGTCCATTAAGATTAATCTTAATCTTTATGACACACTGTTATTAGTCTGTATTTTCATGGCATGTAAAATAACATATGGTATATGTAGTTTTCTGGGACTTGCTATTTATTAAATATTTTATTACCAAGAGTCATCTATATCAGGGATCCCCAACCCTCAGTACTGGTCCATGGCCCGTTAGGAACTGGGCCACACAGCAGGAGGTGAGCAGCAAGTGAGTGAGCCTCATCTGTATTTACAGCCACTCCCTATTGCTCGTGTTACCACCTGAGCTCCACCTCCTGTCAGATCTGTGGTGACATTAGATTCTCATATGAGTATGAACCCTATTGTGAACTGCATATCTGAGGGATCTAGATTGCACACTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGATGGGACCATATAGTTGCAGGAAAACAAGCTCAGGGCTCCCACTGATGCTACATTATGGTGAGTTGTATAATTAGTTCATTATATATTACAATGTAATAATAATAGAAATAAAGTGCACAATAAATGTAATGTGCTTGGGCTGGGCATGGTGGCTCGTGTCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGATGTAGTGGTACGTGCCTGTAATCCCAGCTACTCACGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCTGTCTCAAAAAAAAAAAAATGTAACGCACTTGAAACATCCCGAAACCACCTCCTCCCCCAATGGAAAAATTATCTTCTATAAAACTGGTCCCCGATGCCACAAAGGTTGGGGACTGCTGATGTATATGATTTCTTGTAGCTAGACATCATTCATTTTCATGCTGAATAGCATTCCATTGTGTGAGTACCACAATTTATCTATTTTCCTGTCAATTGTGAATGTTACCAGTATTTTGTTATTAAAAAAAGATTTGTCGTAAGAATTCTTGAATGAATTTCTCTTATTTAGGAATAAAATTATTAGGTTGTTGGATATATGAATGTCCCGCTTTAAAAAAACATTTCCCAGTGGTTGAACCAACACTGCCCCCAATACTGTGAAACATATCCTCTT
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GCTCCAAGTGCTGATAAAGGCCTTGATGCTTCTCCAGATGTCTAAATGCTAGCTCCAGGTGCAGTAAGCAGACTATTTGGAGCTGGCACATAGATTCTGAAGCACAATGTATTAATACAAATGAAAGTTTTAGGTTCTTGGTCTCCTAGAGTAATGGTTCTTAAGCCTGGTTCAGTACCAGAATCACCTGTGGTACTTGGTAAAACTATAAAGACCCTCTAATAGGCCTGTTAAATCAAAATCCCGTGGGGAATGGGACTGAGCGCCTGTATATCTCTGAAGGCTCTGGAGGTTATTCTGATATGCAGCCAAGTATGGCTGTGTTTTCATTTCTGTATATATTTTCTTTTTGTATGGATTTTTCACTGTTCTTACTCTCTGTATGTATTTTTTCTTACTCATGCCTCATGAGTTAAAATGGCTATACAGTGTCCCTTGGTACAGATGTGTTCTAATTTACATAACTGATCCCCTCTTGGTAGACATTATTAATATGCTTCCCATCTTTTTTCATAACAAGTTACTTTAGTAGATATACTTGTACATATAACTTTGTACACATTTGTGAATATATTTAGGGGATAAATTACTAGAAGTGGACTTGTTCAGAGGATATATATATTTGTGAATTTGAGAGATGTGTTTTCTTTGATTCCAATTTTTAAAATTGTTTTAAAATGCCCATAAAATTGTCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGTGGTCACAAGGTCAGGAGATCAAGACCATCCTAGCTAATATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGCGTCCGAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAAAAACAGAAAACCATAAAATTTACCGTGTAACCATTTTAAATGTACAATTCAGTGGCATTAAATACATTCTTAATGTTGTGCAACCATCACTACCATTCATCTCCAGACCTCTTTTCATCTTGTAAAACTAAAACTCCATACCCATAAACAGTAACTCCCCATTCCTTCCTCTCCCTATCCCCTGGCAGCCACCATTTTACTTTCTGTCTCTTGGATATCAGCTACTCCAGGAACCTCATATAAGTGGATTGTACAGTATTTGCTTATTTAACTTAGCATATGGTCCTCAAGGTTCGTCATGTTGCAGGATATCAGAATTTTCTTTCTTTTTAATGCTGAATAATATTCCATTGTATGTACGTAACACATTTTGTTTATCCATTCCTCTGTCAATGGTCATATGGATTTCTTCCACATTTTAGCTATTGTGGGTAATGCTGTCATGAACAAGGCTGTACAGATATCTCTTCAAGACCCTGTTTTCAGTTCTTTGGGGGTATATACCCAGAAGTGGAATTGCTGGATCATATGATAATTCTATTTTTAATTTTATGAGGAACCACCATATTTTTGTTTTCCACAGTGACTCAACCATTTTACTTATGTTCCCACCAACAGTGCATAAGGGTTCTGATTTCTCCGCATCCTCACCAACACTTCTTATTTTCTGCATTTTTGTGGTAGTAGCCATCCTAATGAGTATGAAGTGAAATCTCTTTGTAGTTTGGATTTGCATTTCCCTAATGATTAGTGAGGTTGAACATCTTTTCATGTGCTTATTTAAGGCCATTTGTATATCTTCTTTGGAGAAATGTTTGTTTAAGTTCTTTGCCCATTTTTTATTTAGTTTTTTGTTGTTCAATTTTGGCAGTTCTCTATGTATTCTGGATATTAATCCCTTATCACATATATGGTTTGCAAATATTTCAGATTTTTTTATGTGTGAAAATATGCTTTTAAATCCTCAAGAGTTACGTTCTTAAACTGAATATATTCTTAACTATTCTTAAATCTTGGAAGTCCTTACATTTTGTTTTTATCTCTTCTTAGACCAGTACTAAAGTGGAAGTGGACATGGAGAAAGCAGAAAGCCTGCAAGTGACGAGAGGAGACTTCCTTGCTTCTTTGGAGAATGATATCAAACCAGTGAGTATGCCCATTGAGTGATATATAGGCCAAAAAGTAATGATAATAATAACTCAGGCGAAAAGTAAGTGCCATTTACTCAGTATTATGGAAGGTTATAGCATATGCAGTTTCATAAAATGAGAAAATTTTAGTATTGGAAATGTTCAGTATGAGAAACATCTGTACAATAATCCTAGTGGCTGGTGATATTATTTACTGAAATATTTTCATGATAGGAAGCTTACCATCTTGTAAGGCAGGCCATTCAATTTTGAGACTTTCCAGTTATTGTTTTACTTTATATTGAACTAGAACTAATTTTCTTATTGGTTCTTATACAATCCCAAGCTACAGAAACCTAACTTCAGTCCATCTTCCATATGTCAGTTATTAGGATATTTAAAATTAACTCTCATATCCTCCTCTGTCTCTCTCTCTCTCTCTCTTTCTCTTCCTTTCCTCAGCCTCTTCCAAGGCATCCCTTTTTCTTGCTCAGTACATTTAGTTTCTCTGACTACTATAGTTTCTAAGACTTAAAAAGTGTCAGTTTTCTTAAAACGCACTCAAAATGGTCATAGTTGGAGCTTTAGAATACAGTTTAAGGTTATTAACCCATTTTCCTATAAAACAACTACTAACATTTGAGTAACTTTTGTTTAGAGTCCTGTGTTAATACAAAAACAAATTGTAGAAAGTCCCAGTTCTTAAAGAAGTGTGTGCTTTTCTTTCTTAAATGGACCTCAGGTCCATTAAGATTAATCTTAATCTTTATGACACACTGTTATTAGTCTGTATTTTCATGGCATGTAAAATAACATATGGTATATGTAGTTTTCTGGGACTTGCTATTTATTAAATATTTTATTACCAAGAGTCATCTATATCAGGGATCCCCAACCCTCAGTACTGGTCCATGGCCCGTTAGGAACTGGGCCACACAGCAGGAGGTGAGCAGCAAGTGAGTGAGCCTCATCTGTATTTACAGCCACTCCCTATTGCTCGTGTTACCACCTGAGCTCCACCTCCTGTCAGATCTGTGGTGACATTAGATTCTCATATGAGTATGAACCCTATTGTGAACTGCATATCTGAGGGATCTAGATTGCACACTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGATGGGACCATATAGTTGCAGGAAAACAAGCTCAGGGCTCCCACTGATGCTACATTATGGTGAGTTGTATAATTAGTTCATTATATATTACAATGTAATAATAATAGAAATAAAGTGCACAATAAATGTAATGTGCTTGGGCTGGGCATGGTGGCTCGTGTCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGATGTAGTGGTACGTGCCTGTAATCCCAGCTACTCACGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCTGTCTCAAAAAAAAAAAAATGTAACGCACTTGAAACATCCCGAAACCACCTCCTCCCCCAATGGAAAAATTATCTTCTATAAAACTGGTCCCCGATGCCACAAAGGTTGGGGACTGCTGATGTATATGATTTCTTGTAGCTAGACATCATTCATTTTCATGCTGAATAGCATTCCATTGTGTGAGTACCACAATTTATCTATTTTCCTGTCAATTGTGAATGTTACCAGTATTTTGTTATTAAAAAAAGATTTGTCGTAAGAATTCTTGAATGAATTTCTCTTATTTAGGAATAAAATTATTAGGTTGTTGGATATATGAATGTCCCGCTTTAAAAAAACATTTCCCAGTGGTTGAACCAACACTGCCCCCAATACTGTGAAACATATCCTCTT
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Task1_train_24833
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This variant impacts the gene GOSR2, LRRC37A2 (golgi SNAP receptor complex member 2| leucine rich repeat containing 37 member A2) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; not provided
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GTTAGCACTCCCTTTGACAAGGATGGAAGAGGCCCTTGGGCCTGACAACACGCATACGGTTAAGGCATTACCACCTACTTCGTGGGATCTAACCATCGTTTTTGAAATGGTGCTGGGAAAACTAGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGACTTACATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGACAACGAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTACTCATCTGACAAAGAGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAACAAGTGGGCGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCGACCATTAAAAAGTCAGGAAACAACAGCTGCTGGAGAGGATGTGGAGAAATAAGAACACTTTTACACTGTTGGTGGGACTGTTAACTGGTTCAACCATTGTGGAAGACAGTGTGGAGATTTCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATTTACATGTATGTTTATTGCAGCACTATTCACAATAGCAAAGACCTGGAACCAACCCAAATGTCCAACAATGACAGACTGGATTAAGAAAATGTGGCATATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACACGGATGAAGCTGGAAACCAACATTCTCAGCAAACTATCGCAAGGACAAAAAAACAAACATTACATGTTCTCACTCATAGGTGGGAACTGAACGATGAGAACACTTGGACACAGGAAGGGGGACATCACACTTCGGGGCCTGTTGTGGGGTGGGGAGAGGGGGAAGGGATAGCATTAGGAGATATACCTAATGTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAACCCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAATAATAAAATAAAGAAAAAAAATCTATAACTACATTTCTTGTAATTTTGTCTTTTGAGAGTATACATATCTTATTTCCTTTCCCAGACCAGAACCTCTTTGAGGGCAGGAGGAACCCGGTTTTCCCTACTTTACACATGACACATAATAACCACTCATTCAATGTAGGTTTACTGGATGGATAAATAGGAATGGGGGGTAGATAGGCGGGAGAGTGAGTAGACAAATGCGAAACAGGAAAAGCTTGCGCCAGGAAAAACAGTGAAGAGCGAAATCTCCAGACCCCCGATTAAATGGTTTAAAGTGAAGCCAAGCAAGAACCTCCAGTCCTCTCTGCGGCAGAGAACAGCAGATGATAGCGGCTCGCCTTCAACTTTGCTCTGAGGACCTCTCGTTAGTATCCCGCGATTGTCCTTCCTAACGCCTGACTGAATCCTGAGGCTAGCCTTCAGCGAACATGTACACCGCCTTGCCCTTCACGTGAAGCCGAGCCTGTGACTACACTTATCCTTCCGTCGCCGGCCTCATTTCTCCTTCCCCTTCTCCGATCTCGCAACCACTGCTAGTAAGGCGCGCGTGCGGGCAGCCCTGGCCGGCAGGGGAGGGAGGGTCCTGCGACCGGAAGCCGGAAACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGAGCCGGAGCCGTGGCCTGCGGGGCCGGCGACATGGATCCCCTGTTCCAGCAAACGCACAAGTGAGGGCCGGTCGGGGAGCGGGCAGGGGCTAGACGAGGCGAGGCCAGGTGAGCCTGGCTTCTGGGGCTGAGGCCTCGGACGTCAGCCAGGGTAGAGGCCGAGTTTTTCCGCCAGGGCACTGCTGGGGATGCCTCCGAAGTGCTTAATCCTTGGCGGGACTCCCAGGTCAGCCACAGACAGTGGGTTCAGGCTGGGGCCTGGAGACGTGGGGCAGATGACTCCTGGGGTCTGCAAGTTCGTGACTACCTGCTGGGTAGACTGGGTGACGGGAAACTGGCACCTGCAGGTTATAAAACTTTGTCCAGCACTTGTCAACTCGGTGCTCCTGGTTGGTAGACCTCGAGAGGAGACACGGAGTAGGAGACACGGCCCCTGGCCGTAGGAGTGTACTGTTTAATTGGAGAGTCAGGGCACGTACGGGAAAGTATTTGTATTCTTATTCGATTTATACTAAAGACCACATTTTTATGGTACAAAGAAATTGCTGTCCACGTAGCATTCACTATTATTACTTGTTAATCGTATCTGGTTACAGGTTATCGCTAAGAAAATCAAATTGTAATTTAGTTTCTCATAACTTAAATTCCTTGGTAGTGTCCTTTATTCGCATCGTCCTGCACTTTCGGAATTGCTGAGATACGTAGTTGAGTATTAATGGGGCCATACTTACCCTATTTTTGGGGGCGGGGGGCAGAATTATGATTTTTACCCTGTTTTGGAGGGACGGAATTTTATGATTTTTATTTTTTATTGTAAAATATACACAACATAAGATTTACTGTTTTAACAATTTTTAAGTGTACAATTCAGTGACATTGAGTACATTCACAACTTACATCACTACGATCCATTTCCAGAACTTTTTCATCATCCCAGTGTGCCTGTTAATCAGTAGCACTTCATTTCTTCCTTCCAGAACACCTAGTAACCTCTGTTTTACTTCTCTCTATGAGTTTACCTATTCTAGATACTTAATATAAGTGGAGTCATACAGAATTTGTCCTTTTGTATCTGGCTTATTTCACTTAATGTTTTCAGGGTTCATCTATATTGTAGCCTGTTACCAGAATTTCATTCTGTTTTATGACGGAATAATATTCCGTTTTATGTGTCTACCACATTTTGTTATCCATTCATCTGTTGATGGACACTTGAGTTGTTTCCACCATTGGGCTGTTGAGAATAATACTGCTATGAACTCTGGTGTAGAAGTATCTGTTTTAGTTTCTCTTCTCAATTTTTTGAGGTATATACCTATCCTATTGAGAACTTTCAAACTTATGCTGTAGTTTTGTTGATTAAAACACTTAAAATCACACTCCCAAGGCCTGGAAATGAAATGCCCTGAAGCATGAGGAATAAGAGGGTGATGATCCTCTTTCTCTTTCATTTTCTAAGTTTATGGGTTTCTTTTATTTTGGCGATGAGGTGTTTCATTTGGACAGGCGAAAATACAGAACCTACTTTGTAATGACAGAATTTTCTTTTACACTGGGGAGCCCTATTCTCACATAAACGTTATAGGAAGGGACTTAAAACTAGTCTGTGAGTAATTTAGAGAAAGAATGAAACGAAATTATGTTCATGTTACTAAGAAAGGGCCTATCTTTCACAATAGCAGGGCACAATGGGCATAGTAGTGCCTTGAAGTTAATCTGTTATGTATGGTCTTATCTAGTTAATTTAGTTAAAGGATGTTGCCAAGAAGGCCATGACCCATTTTATATTCAAGAATAACTTTATTTAGAGAGTCTTAGACTACCTGTTTTCAGTGCAGCTAATCACAGAGAAAACTGCATGGCTCAGAAGAGGAATTCTAAATGGTACCCCAAACAAGGTGTGTGGAGTGTAGATGCTCTGTAGGCCTCCAACAATGCACCCTTGGACTCTAGCAGCTTGCCAGTTTTTTCTATTAAGGGCCAGATAGTAAATATTTTAGGCTCTGTGGGCTATACGGTCTCTGTAGTTACTACTCTGCTGTTATATTGGGAAAACAGCCATAGACAATATGTAAACTAA
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GTTAGCACTCCCTTTGACAAGGATGGAAGAGGCCCTTGGGCCTGACAACACGCATACGGTTAAGGCATTACCACCTACTTCGTGGGATCTAACCATCGTTTTTGAAATGGTGCTGGGAAAACTAGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGACTTACATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGACAACGAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTACTCATCTGACAAAGAGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAACAAGTGGGCGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCGACCATTAAAAAGTCAGGAAACAACAGCTGCTGGAGAGGATGTGGAGAAATAAGAACACTTTTACACTGTTGGTGGGACTGTTAACTGGTTCAACCATTGTGGAAGACAGTGTGGAGATTTCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATTTACATGTATGTTTATTGCAGCACTATTCACAATAGCAAAGACCTGGAACCAACCCAAATGTCCAACAATGACAGACTGGATTAAGAAAATGTGGCATATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACACGGATGAAGCTGGAAACCAACATTCTCAGCAAACTATCGCAAGGACAAAAAAACAAACATTACATGTTCTCACTCATAGGTGGGAACTGAACGATGAGAACACTTGGACACAGGAAGGGGGACATCACACTTCGGGGCCTGTTGTGGGGTGGGGAGAGGGGGAAGGGATAGCATTAGGAGATATACCTAATGTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAACCCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAATAATAAAATAAAGAAAAAAAATCTATAACTACATTTCTTGTAATTTTGTCTTTTGAGAGTATACATATCTTATTTCCTTTCCCAGACCAGAACCTCTTTGAGGGCAGGAGGAACCCGGTTTTCCCTACTTTACACATGACACATAATAACCACTCATTCAATGTAGGTTTACTGGATGGATAAATAGGAATGGGGGGTAGATAGGCGGGAGAGTGAGTAGACAAATGCGAAACAGGAAAAGCTTGCGCCAGGAAAAACAGTGAAGAGCGAAATCTCCAGACCCCCGATTAAATGGTTTAAAGTGAAGCCAAGCAAGAACCTCCAGTCCTCTCTGCGGCAGAGAACAGCAGATGATAGCGGCTCGCCTTCAACTTTGCTCTGAGGACCTCTCGTTAGTATCCCGCGATTGTCCTTCCTAACGCCTGACTGAATCCTGAGGCTAGCCTTCAGCGAACATGTACACCGCCTTGCCCTTCACGTGAAGCCGAGCCTGTGACTACACTTATCCTTCCGTCGCCGGCCTCATTTCTCCTTCCCCTTCTCCGATCTCGCAACCACTGCTAGTAAGGCGCGCGTGCGGGCAGCCCTGGCCGGCAGGGGAGGGAGGGTCCTGCGACCGGAAGCCGGAAACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGAGCCGGAGCCGTGGCCTGCGGGGCCGGCGACAGGGATCCCCTGTTCCAGCAAACGCACAAGTGAGGGCCGGTCGGGGAGCGGGCAGGGGCTAGACGAGGCGAGGCCAGGTGAGCCTGGCTTCTGGGGCTGAGGCCTCGGACGTCAGCCAGGGTAGAGGCCGAGTTTTTCCGCCAGGGCACTGCTGGGGATGCCTCCGAAGTGCTTAATCCTTGGCGGGACTCCCAGGTCAGCCACAGACAGTGGGTTCAGGCTGGGGCCTGGAGACGTGGGGCAGATGACTCCTGGGGTCTGCAAGTTCGTGACTACCTGCTGGGTAGACTGGGTGACGGGAAACTGGCACCTGCAGGTTATAAAACTTTGTCCAGCACTTGTCAACTCGGTGCTCCTGGTTGGTAGACCTCGAGAGGAGACACGGAGTAGGAGACACGGCCCCTGGCCGTAGGAGTGTACTGTTTAATTGGAGAGTCAGGGCACGTACGGGAAAGTATTTGTATTCTTATTCGATTTATACTAAAGACCACATTTTTATGGTACAAAGAAATTGCTGTCCACGTAGCATTCACTATTATTACTTGTTAATCGTATCTGGTTACAGGTTATCGCTAAGAAAATCAAATTGTAATTTAGTTTCTCATAACTTAAATTCCTTGGTAGTGTCCTTTATTCGCATCGTCCTGCACTTTCGGAATTGCTGAGATACGTAGTTGAGTATTAATGGGGCCATACTTACCCTATTTTTGGGGGCGGGGGGCAGAATTATGATTTTTACCCTGTTTTGGAGGGACGGAATTTTATGATTTTTATTTTTTATTGTAAAATATACACAACATAAGATTTACTGTTTTAACAATTTTTAAGTGTACAATTCAGTGACATTGAGTACATTCACAACTTACATCACTACGATCCATTTCCAGAACTTTTTCATCATCCCAGTGTGCCTGTTAATCAGTAGCACTTCATTTCTTCCTTCCAGAACACCTAGTAACCTCTGTTTTACTTCTCTCTATGAGTTTACCTATTCTAGATACTTAATATAAGTGGAGTCATACAGAATTTGTCCTTTTGTATCTGGCTTATTTCACTTAATGTTTTCAGGGTTCATCTATATTGTAGCCTGTTACCAGAATTTCATTCTGTTTTATGACGGAATAATATTCCGTTTTATGTGTCTACCACATTTTGTTATCCATTCATCTGTTGATGGACACTTGAGTTGTTTCCACCATTGGGCTGTTGAGAATAATACTGCTATGAACTCTGGTGTAGAAGTATCTGTTTTAGTTTCTCTTCTCAATTTTTTGAGGTATATACCTATCCTATTGAGAACTTTCAAACTTATGCTGTAGTTTTGTTGATTAAAACACTTAAAATCACACTCCCAAGGCCTGGAAATGAAATGCCCTGAAGCATGAGGAATAAGAGGGTGATGATCCTCTTTCTCTTTCATTTTCTAAGTTTATGGGTTTCTTTTATTTTGGCGATGAGGTGTTTCATTTGGACAGGCGAAAATACAGAACCTACTTTGTAATGACAGAATTTTCTTTTACACTGGGGAGCCCTATTCTCACATAAACGTTATAGGAAGGGACTTAAAACTAGTCTGTGAGTAATTTAGAGAAAGAATGAAACGAAATTATGTTCATGTTACTAAGAAAGGGCCTATCTTTCACAATAGCAGGGCACAATGGGCATAGTAGTGCCTTGAAGTTAATCTGTTATGTATGGTCTTATCTAGTTAATTTAGTTAAAGGATGTTGCCAAGAAGGCCATGACCCATTTTATATTCAAGAATAACTTTATTTAGAGAGTCTTAGACTACCTGTTTTCAGTGCAGCTAATCACAGAGAAAACTGCATGGCTCAGAAGAGGAATTCTAAATGGTACCCCAAACAAGGTGTGTGGAGTGTAGATGCTCTGTAGGCCTCCAACAATGCACCCTTGGACTCTAGCAGCTTGCCAGTTTTTTCTATTAAGGGCCAGATAGTAAATATTTTAGGCTCTGTGGGCTATACGGTCTCTGTAGTTACTACTCTGCTGTTATATTGGGAAAACAGCCATAGACAATATGTAAACTAA
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Task1_train_24834
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A variant found in Chromosome 17 affects GOSR2, LRRC37A2 (golgi SNAP receptor complex member 2| leucine rich repeat containing 37 member A2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Progressive myoclonic epilepsy
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GTGTTTAACAGTTCAAAAATTTAATGAACTATAAGACACACTAAAAGATGTTTGGATTTTAGATCGTTATAATGTAGTATTCAGGCCTTTTTTAGGCCAAGGATGATCGCTTGGGATTATTTTGTTTTTTGCCAGCCTGGCGTGATGCTGTGCACACCGTCAGTTCTTAATAAACATTGACTTGCCAGATGAAACTTCTTCCTGGTCATTCTACCATATGGAGCTATAATACATTTTTCTGAGAGATAATGGCCCATCAGCCATACTGTTTTAGATGGGAGGGTAAGAAAGATTTGTATGTGAATGGCATTTCATAAGTGCTAGTCAAATTACTGAAGAGAAGTCTCTGAGTCTTTCAAACGCCAGCATCTTCTGACACACTGGGCATTAGCTGCATGCAGAAAACTAGTTAATTCAGGCACTAGGAGTAAAGCACATGATGAAATTAAAAGACCTGACGCCTATCTGTGAGGAGCTCCCCTGTTAGCAGGGGCAGTTGAAAACACGTATGTGCAAAATGATTCCAAATCTGAGCAGCAAAGAAACAGTGGCATAACCTTTTTTTTTTTTTTGGACAATTGAAACTGGAATTTAGGTGGTAAAAACAGCACTAGTGGAGCAGGGCACAATGACACACGCCTGTGATCCCAGCACTTTGGGAGACCAAGGCAGTGGATTGTTCAGGAGTTCACCATCCTGGGTGACATGGTGAGACATTGTCTCTACAAAAAAATATAAAAATTAGCCGGGCGTGGTGGCGTGAGCCTGTGGTCCCAACTACTCTCTGGAGCCTGAGGTGAGAAGATCACTTAAGCCTGGTAGGTCAAGGCTGCTCTCTATCCTGGGTGACAGAGTGAGAGCCTGTCTCAAAAAAAAAAAAAACACGAAACAAACCCCAGCACTACTTGGCAGGAGAGCTTGTGATTGGCAGAAAAGAGAAGGGAACGCTCTCACAGCTGGCGAGGACTTGGCTCCTGCCTATAGTCCACTTTCAGAGCAAAAGTAGAGCCACCAGGATGGGCGTTGGTGTTTCCCTCTACAGTGTGGGTAACAGGGCAGGCCCTGCGCTCAGTACCCACATTCCCAGCTCCACTGGACTTCCAGCTCTGTGATCACTGGACACACTTCCAGCTGTGTGATCTTGGACAAGTTATTCTACCTCTCTGGGCATTTTTTCATCTATAAAATGGGGAGGCCTGTGGACAGATTCCTTGAGCACAGGAGTTGGAGACCAGCCTGAGCAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAAAAGAGAAAGAAAGAAAGAAAAAAGCTGGGCATGGTAGCATGCACCTATGGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGTTTGAGTCCAGGAGGCTAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCACCCTGGGTGACAGAGGGAAACCCTGTCTCAAAAAAAAAGAAAATGCAGAAGCACAGCCTCCTCTATCCTTAGTTAACTCTCAGTCTACTTGGAGAGGTAAACTATAGATAAAATAGCTAAAGGACACGAGCAAACATTTAACACTGCATTAAGGGGAAGCCATGGAAAGGAACATTTGGAACCAGCTAGGTTAGTGAGTAGTCAGAGAAAGCCTTTAGGAGACACCCAATGAGGTCTTGAAGGAATAGCTTTTCCTAAGAGGAGATCATGATACAGAGACAAGTATCGTTGGAATGAACGATACTTGTGGAGTGGAACTCATTTGGAGAGTGACAGATCTGAGGAAGTTCCTCTTCTGTGTGGACAGAGGCCACCCCAGGCCTTTGCTTTGCTTTTTCTTATCCATTAGGGTCCGCTGATTCTTTCACCAGCCCCTCCGGCTGTTCTGGCTTGGCCTTGGCCAAAAGACAGAGCAGTGAGACCCCAGGAACTGACTGATAAGCAAAGTTAATCAAGTGCCTGTGTTTCTTTCACAGGACTCTGACACCACCATACCAATGGACGAATCACTGCAGTTTAACTCCTCCCTCCAGAAAGTTCACAACGGCATGGATGACCTCATTTTAGATGGGCACAATATTTTAGATGGACTGAGGACCCAGAGACTGACCTTGAAGGTGGGGTCCCTGCTGGGGGACAGAGAGAAGGCCTCTTGTTTTAGCCTCATCCAACAGTTTAGTAACTGTGTTTATATTTTGATTACGTGTCCTCAAATTGTGATATTTTGATGACAAGACAGAGCCCTTGAGTTTGGGATCCTTTCTGTTGGAGTTGAGTTATTGTGAGCCTGAAAGTACCCAGTTCCTTTGCCAGTGCTTGAAACAAACCATGAAGTGGCCTCTCTTAGGATCCAGGTCTTTTCCCATTTACTGAACTTATCATGAAAGTGAGTGCTACTACGAGGGGTCCAATCACAGGCTGAGAAATTGTGTTACAGAATCTACTCTTGGAAGAATGAAGACGTGGCTGTCCTTTGGTACCTCGCTTTAAGGTGGCTTTCCCTTAGGACCCCTACTGTGGACTGCCTTATAACTAAAACCTTTTGTATTTTAGTAACTGAATCCCCACTGTGCAGTGTTAGGGCTGCCTGGTTGTTTGCAGTAGATTAGAGCTTTAGAAGCTTCTAGAGCTTCTAAAGCCCGTGCTGGTGATCCCAGCGACTCTTCACTCCCTAGCCTTAGGTATTCCTAGAAGCCCTGACCAGTTGGCACTGCTGAGACTCCAGCCCCTGGGAGTGGTTTACAGAAACATTACACAGACTCTGATGTCAGTCATGATGTTTCAGCCTCTGCCCTTTTCCTGTATCAACCCTGATGGATAATAGGGCGTGGGTTCTGTCTGTTATCAGGGTGTGGTCCCCTGTGAATGAAGCACTCCCAGCCACTGAGCTGTGAGAAACAGTCACTCGGAAGTGTGAGCTTTATCTTAGTTTTTGTTGGATCATGTTGAGTCTGTCAGCTCCACAGGACTTCAGTACGTTTCTGAACAGTCCCTGCCATCTCTACGGGGGAGAGGGTCAGGCAAGCTGCAAGTGACACTCACCTCCTGCTGACAGTTGCAGTGTCTCAGATGGCCTGGAAGGGTGGTCTCCAGCAGCCTGCTGGGCGCTCCCCTTTCATGAGAGCCACCTGCAGTGACCTGAACTGATACATGTTGATTAGTCTGCCCTTTCTTTAGAAAACTGCTACTCTCCTTTTCATATCTCAGAAAAACAGTAGAGGCCTTTTAGGACCAAACTCCATGTCACACTGATGAAGAGCCAGTGGGGGTTAGAGCGTCCTGTTAAGGCACATGCTAACTTCCCACTCAAGTCTGGCAGCGCTGGGGCATCAGCACACCTCTTGCCACCCACACTGATACCAGAGGGGAAGGCTGTGAGGTGGCTGGGGGTTGAGACTTGAGGTTTCTAACTTTCCTCTGCACACCTGTGGCTACCTGGTGTTTGTCTCTTGATTCCCTCCACCTGCCTCACACCCTGCCTCCGTCGGGATTTTCCACCTACACCATTCAAAAGGAACATAGGAGAGGGCATGAAGGGGCTAGGCTGAAGCACTCTGATGACTGGGGCCAATTTGTGGCTGAAAATGAATACATTTTTTGAAATTTATGGTCATTTTCAAGTGATTTAGAAGGTTGATCCTTAGCCTCATACAGTGATGAAATAATCTGTGTGTTCAGAGCCAAGCAGGACTTTAGCAAGAGTCTGATTGTATTGTCACTATCTCGGGGAAAAAAAAATACAAATACATTTCTCTGATCTCTGATGGCAATGAAGTTTGACTTGTAATTTCTCTGGCTGAGGCTTCTTAATTGCTTTCTGGGCAGAATGTAGATTTTGGATTCCTGTCCATGATGCCTAATGTTGATCTCACTTTCCTTGTTTCTCTCAGTTGCTCATTAATGTGTATTTATTAAAAAAAAAAAAAAAGGATATGGGGCATGAGGTTAGATGCCATGCATATAAGTTGCAGTGGGTGATATGTGCTGAGTGACTTGGGGTCTGCCCCGGCATTCACTTATACTTGTTTCTTACTAAGAAATTGAATGTGCTTTAAGCTGAAAATTAGAAAGCAGTAGGGAAGGACAGGCTGGATGGTTTGGGTTGTTGGTTTAGGAA
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GTGTTTAACAGTTCAAAAATTTAATGAACTATAAGACACACTAAAAGATGTTTGGATTTTAGATCGTTATAATGTAGTATTCAGGCCTTTTTTAGGCCAAGGATGATCGCTTGGGATTATTTTGTTTTTTGCCAGCCTGGCGTGATGCTGTGCACACCGTCAGTTCTTAATAAACATTGACTTGCCAGATGAAACTTCTTCCTGGTCATTCTACCATATGGAGCTATAATACATTTTTCTGAGAGATAATGGCCCATCAGCCATACTGTTTTAGATGGGAGGGTAAGAAAGATTTGTATGTGAATGGCATTTCATAAGTGCTAGTCAAATTACTGAAGAGAAGTCTCTGAGTCTTTCAAACGCCAGCATCTTCTGACACACTGGGCATTAGCTGCATGCAGAAAACTAGTTAATTCAGGCACTAGGAGTAAAGCACATGATGAAATTAAAAGACCTGACGCCTATCTGTGAGGAGCTCCCCTGTTAGCAGGGGCAGTTGAAAACACGTATGTGCAAAATGATTCCAAATCTGAGCAGCAAAGAAACAGTGGCATAACCTTTTTTTTTTTTTTGGACAATTGAAACTGGAATTTAGGTGGTAAAAACAGCACTAGTGGAGCAGGGCACAATGACACACGCCTGTGATCCCAGCACTTTGGGAGACCAAGGCAGTGGATTGTTCAGGAGTTCACCATCCTGGGTGACATGGTGAGACATTGTCTCTACAAAAAAATATAAAAATTAGCCGGGCGTGGTGGCGTGAGCCTGTGGTCCCAACTACTCTCTGGAGCCTGAGGTGAGAAGATCACTTAAGCCTGGTAGGTCAAGGCTGCTCTCTATCCTGGGTGACAGAGTGAGAGCCTGTCTCAAAAAAAAAAAAAACACGAAACAAACCCCAGCACTACTTGGCAGGAGAGCTTGTGATTGGCAGAAAAGAGAAGGGAACGCTCTCACAGCTGGCGAGGACTTGGCTCCTGCCTATAGTCCACTTTCAGAGCAAAAGTAGAGCCACCAGGATGGGCGTTGGTGTTTCCCTCTACAGTGTGGGTAACAGGGCAGGCCCTGCGCTCAGTACCCACATTCCCAGCTCCACTGGACTTCCAGCTCTGTGATCACTGGACACACTTCCAGCTGTGTGATCTTGGACAAGTTATTCTACCTCTCTGGGCATTTTTTCATCTATAAAATGGGGAGGCCTGTGGACAGATTCCTTGAGCACAGGAGTTGGAGACCAGCCTGAGCAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAAAAGAGAAAGAAAGAAAGAAAAAAGCTGGGCATGGTAGCATGCACCTATGGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGTTTGAGTCCAGGAGGCTAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCACCCTGGGTGACAGAGGGAAACCCTGTCTCAAAAAAAAAGAAAATGCAGAAGCACAGCCTCCTCTATCCTTAGTTAACTCTCAGTCTACTTGGAGAGGTAAACTATAGATAAAATAGCTAAAGGACACGAGCAAACATTTAACACTGCATTAAGGGGAAGCCATGGAAAGGAACATTTGGAACCAGCTAGGTTAGTGAGTAGTCAGAGAAAGCCTTTAGGAGACACCCAATGAGGTCTTGAAGGAATAGCTTTTCCTAAGAGGAGATCATGATACAGAGACAAGTATCGTTGGAATGAACGATACTTGTGGAGTGGAACTCATTTGGAGAGTGACAGATCTGAGGAAGTTCCTCTTCTGTGTGGACAGAGGCCACCCCAGGCCTTTGCTTTGCTTTTTCTTATCCATTAGGGTCCGCTGATTCTTTCACCAGCCCCTCCGGCTGTTCTGGCTTGGCCTTGGCCAAAAGACAGAGCAGTGAGACCCCAGGAACTGACTGATAAGCAAAGTTAATCAAGTGCCTGTGTTTCTTTCACAGGACTCTGACACCACCATACCAATGGACGAATCACTGCAGTTTAACTCCTCCCTCCAGAAAGTTCACAACGGCATGGATGACCTCATTTTAGATTGGCACAATATTTTAGATGGACTGAGGACCCAGAGACTGACCTTGAAGGTGGGGTCCCTGCTGGGGGACAGAGAGAAGGCCTCTTGTTTTAGCCTCATCCAACAGTTTAGTAACTGTGTTTATATTTTGATTACGTGTCCTCAAATTGTGATATTTTGATGACAAGACAGAGCCCTTGAGTTTGGGATCCTTTCTGTTGGAGTTGAGTTATTGTGAGCCTGAAAGTACCCAGTTCCTTTGCCAGTGCTTGAAACAAACCATGAAGTGGCCTCTCTTAGGATCCAGGTCTTTTCCCATTTACTGAACTTATCATGAAAGTGAGTGCTACTACGAGGGGTCCAATCACAGGCTGAGAAATTGTGTTACAGAATCTACTCTTGGAAGAATGAAGACGTGGCTGTCCTTTGGTACCTCGCTTTAAGGTGGCTTTCCCTTAGGACCCCTACTGTGGACTGCCTTATAACTAAAACCTTTTGTATTTTAGTAACTGAATCCCCACTGTGCAGTGTTAGGGCTGCCTGGTTGTTTGCAGTAGATTAGAGCTTTAGAAGCTTCTAGAGCTTCTAAAGCCCGTGCTGGTGATCCCAGCGACTCTTCACTCCCTAGCCTTAGGTATTCCTAGAAGCCCTGACCAGTTGGCACTGCTGAGACTCCAGCCCCTGGGAGTGGTTTACAGAAACATTACACAGACTCTGATGTCAGTCATGATGTTTCAGCCTCTGCCCTTTTCCTGTATCAACCCTGATGGATAATAGGGCGTGGGTTCTGTCTGTTATCAGGGTGTGGTCCCCTGTGAATGAAGCACTCCCAGCCACTGAGCTGTGAGAAACAGTCACTCGGAAGTGTGAGCTTTATCTTAGTTTTTGTTGGATCATGTTGAGTCTGTCAGCTCCACAGGACTTCAGTACGTTTCTGAACAGTCCCTGCCATCTCTACGGGGGAGAGGGTCAGGCAAGCTGCAAGTGACACTCACCTCCTGCTGACAGTTGCAGTGTCTCAGATGGCCTGGAAGGGTGGTCTCCAGCAGCCTGCTGGGCGCTCCCCTTTCATGAGAGCCACCTGCAGTGACCTGAACTGATACATGTTGATTAGTCTGCCCTTTCTTTAGAAAACTGCTACTCTCCTTTTCATATCTCAGAAAAACAGTAGAGGCCTTTTAGGACCAAACTCCATGTCACACTGATGAAGAGCCAGTGGGGGTTAGAGCGTCCTGTTAAGGCACATGCTAACTTCCCACTCAAGTCTGGCAGCGCTGGGGCATCAGCACACCTCTTGCCACCCACACTGATACCAGAGGGGAAGGCTGTGAGGTGGCTGGGGGTTGAGACTTGAGGTTTCTAACTTTCCTCTGCACACCTGTGGCTACCTGGTGTTTGTCTCTTGATTCCCTCCACCTGCCTCACACCCTGCCTCCGTCGGGATTTTCCACCTACACCATTCAAAAGGAACATAGGAGAGGGCATGAAGGGGCTAGGCTGAAGCACTCTGATGACTGGGGCCAATTTGTGGCTGAAAATGAATACATTTTTTGAAATTTATGGTCATTTTCAAGTGATTTAGAAGGTTGATCCTTAGCCTCATACAGTGATGAAATAATCTGTGTGTTCAGAGCCAAGCAGGACTTTAGCAAGAGTCTGATTGTATTGTCACTATCTCGGGGAAAAAAAAATACAAATACATTTCTCTGATCTCTGATGGCAATGAAGTTTGACTTGTAATTTCTCTGGCTGAGGCTTCTTAATTGCTTTCTGGGCAGAATGTAGATTTTGGATTCCTGTCCATGATGCCTAATGTTGATCTCACTTTCCTTGTTTCTCTCAGTTGCTCATTAATGTGTATTTATTAAAAAAAAAAAAAAAGGATATGGGGCATGAGGTTAGATGCCATGCATATAAGTTGCAGTGGGTGATATGTGCTGAGTGACTTGGGGTCTGCCCCGGCATTCACTTATACTTGTTTCTTACTAAGAAATTGAATGTGCTTTAAGCTGAAAATTAGAAAGCAGTAGGGAAGGACAGGCTGGATGGTTTGGGTTGTTGGTTTAGGAA
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Task1_train_24835
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Located on Chromosome 17, this mutation impacts GOSR2, LRRC37A2 (golgi SNAP receptor complex member 2| leucine rich repeat containing 37 member A2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Progressive myoclonic epilepsy type 6
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GTGTTTAACAGTTCAAAAATTTAATGAACTATAAGACACACTAAAAGATGTTTGGATTTTAGATCGTTATAATGTAGTATTCAGGCCTTTTTTAGGCCAAGGATGATCGCTTGGGATTATTTTGTTTTTTGCCAGCCTGGCGTGATGCTGTGCACACCGTCAGTTCTTAATAAACATTGACTTGCCAGATGAAACTTCTTCCTGGTCATTCTACCATATGGAGCTATAATACATTTTTCTGAGAGATAATGGCCCATCAGCCATACTGTTTTAGATGGGAGGGTAAGAAAGATTTGTATGTGAATGGCATTTCATAAGTGCTAGTCAAATTACTGAAGAGAAGTCTCTGAGTCTTTCAAACGCCAGCATCTTCTGACACACTGGGCATTAGCTGCATGCAGAAAACTAGTTAATTCAGGCACTAGGAGTAAAGCACATGATGAAATTAAAAGACCTGACGCCTATCTGTGAGGAGCTCCCCTGTTAGCAGGGGCAGTTGAAAACACGTATGTGCAAAATGATTCCAAATCTGAGCAGCAAAGAAACAGTGGCATAACCTTTTTTTTTTTTTTGGACAATTGAAACTGGAATTTAGGTGGTAAAAACAGCACTAGTGGAGCAGGGCACAATGACACACGCCTGTGATCCCAGCACTTTGGGAGACCAAGGCAGTGGATTGTTCAGGAGTTCACCATCCTGGGTGACATGGTGAGACATTGTCTCTACAAAAAAATATAAAAATTAGCCGGGCGTGGTGGCGTGAGCCTGTGGTCCCAACTACTCTCTGGAGCCTGAGGTGAGAAGATCACTTAAGCCTGGTAGGTCAAGGCTGCTCTCTATCCTGGGTGACAGAGTGAGAGCCTGTCTCAAAAAAAAAAAAAACACGAAACAAACCCCAGCACTACTTGGCAGGAGAGCTTGTGATTGGCAGAAAAGAGAAGGGAACGCTCTCACAGCTGGCGAGGACTTGGCTCCTGCCTATAGTCCACTTTCAGAGCAAAAGTAGAGCCACCAGGATGGGCGTTGGTGTTTCCCTCTACAGTGTGGGTAACAGGGCAGGCCCTGCGCTCAGTACCCACATTCCCAGCTCCACTGGACTTCCAGCTCTGTGATCACTGGACACACTTCCAGCTGTGTGATCTTGGACAAGTTATTCTACCTCTCTGGGCATTTTTTCATCTATAAAATGGGGAGGCCTGTGGACAGATTCCTTGAGCACAGGAGTTGGAGACCAGCCTGAGCAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAAAAGAGAAAGAAAGAAAGAAAAAAGCTGGGCATGGTAGCATGCACCTATGGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGTTTGAGTCCAGGAGGCTAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCACCCTGGGTGACAGAGGGAAACCCTGTCTCAAAAAAAAAGAAAATGCAGAAGCACAGCCTCCTCTATCCTTAGTTAACTCTCAGTCTACTTGGAGAGGTAAACTATAGATAAAATAGCTAAAGGACACGAGCAAACATTTAACACTGCATTAAGGGGAAGCCATGGAAAGGAACATTTGGAACCAGCTAGGTTAGTGAGTAGTCAGAGAAAGCCTTTAGGAGACACCCAATGAGGTCTTGAAGGAATAGCTTTTCCTAAGAGGAGATCATGATACAGAGACAAGTATCGTTGGAATGAACGATACTTGTGGAGTGGAACTCATTTGGAGAGTGACAGATCTGAGGAAGTTCCTCTTCTGTGTGGACAGAGGCCACCCCAGGCCTTTGCTTTGCTTTTTCTTATCCATTAGGGTCCGCTGATTCTTTCACCAGCCCCTCCGGCTGTTCTGGCTTGGCCTTGGCCAAAAGACAGAGCAGTGAGACCCCAGGAACTGACTGATAAGCAAAGTTAATCAAGTGCCTGTGTTTCTTTCACAGGACTCTGACACCACCATACCAATGGACGAATCACTGCAGTTTAACTCCTCCCTCCAGAAAGTTCACAACGGCATGGATGACCTCATTTTAGATGGGCACAATATTTTAGATGGACTGAGGACCCAGAGACTGACCTTGAAGGTGGGGTCCCTGCTGGGGGACAGAGAGAAGGCCTCTTGTTTTAGCCTCATCCAACAGTTTAGTAACTGTGTTTATATTTTGATTACGTGTCCTCAAATTGTGATATTTTGATGACAAGACAGAGCCCTTGAGTTTGGGATCCTTTCTGTTGGAGTTGAGTTATTGTGAGCCTGAAAGTACCCAGTTCCTTTGCCAGTGCTTGAAACAAACCATGAAGTGGCCTCTCTTAGGATCCAGGTCTTTTCCCATTTACTGAACTTATCATGAAAGTGAGTGCTACTACGAGGGGTCCAATCACAGGCTGAGAAATTGTGTTACAGAATCTACTCTTGGAAGAATGAAGACGTGGCTGTCCTTTGGTACCTCGCTTTAAGGTGGCTTTCCCTTAGGACCCCTACTGTGGACTGCCTTATAACTAAAACCTTTTGTATTTTAGTAACTGAATCCCCACTGTGCAGTGTTAGGGCTGCCTGGTTGTTTGCAGTAGATTAGAGCTTTAGAAGCTTCTAGAGCTTCTAAAGCCCGTGCTGGTGATCCCAGCGACTCTTCACTCCCTAGCCTTAGGTATTCCTAGAAGCCCTGACCAGTTGGCACTGCTGAGACTCCAGCCCCTGGGAGTGGTTTACAGAAACATTACACAGACTCTGATGTCAGTCATGATGTTTCAGCCTCTGCCCTTTTCCTGTATCAACCCTGATGGATAATAGGGCGTGGGTTCTGTCTGTTATCAGGGTGTGGTCCCCTGTGAATGAAGCACTCCCAGCCACTGAGCTGTGAGAAACAGTCACTCGGAAGTGTGAGCTTTATCTTAGTTTTTGTTGGATCATGTTGAGTCTGTCAGCTCCACAGGACTTCAGTACGTTTCTGAACAGTCCCTGCCATCTCTACGGGGGAGAGGGTCAGGCAAGCTGCAAGTGACACTCACCTCCTGCTGACAGTTGCAGTGTCTCAGATGGCCTGGAAGGGTGGTCTCCAGCAGCCTGCTGGGCGCTCCCCTTTCATGAGAGCCACCTGCAGTGACCTGAACTGATACATGTTGATTAGTCTGCCCTTTCTTTAGAAAACTGCTACTCTCCTTTTCATATCTCAGAAAAACAGTAGAGGCCTTTTAGGACCAAACTCCATGTCACACTGATGAAGAGCCAGTGGGGGTTAGAGCGTCCTGTTAAGGCACATGCTAACTTCCCACTCAAGTCTGGCAGCGCTGGGGCATCAGCACACCTCTTGCCACCCACACTGATACCAGAGGGGAAGGCTGTGAGGTGGCTGGGGGTTGAGACTTGAGGTTTCTAACTTTCCTCTGCACACCTGTGGCTACCTGGTGTTTGTCTCTTGATTCCCTCCACCTGCCTCACACCCTGCCTCCGTCGGGATTTTCCACCTACACCATTCAAAAGGAACATAGGAGAGGGCATGAAGGGGCTAGGCTGAAGCACTCTGATGACTGGGGCCAATTTGTGGCTGAAAATGAATACATTTTTTGAAATTTATGGTCATTTTCAAGTGATTTAGAAGGTTGATCCTTAGCCTCATACAGTGATGAAATAATCTGTGTGTTCAGAGCCAAGCAGGACTTTAGCAAGAGTCTGATTGTATTGTCACTATCTCGGGGAAAAAAAAATACAAATACATTTCTCTGATCTCTGATGGCAATGAAGTTTGACTTGTAATTTCTCTGGCTGAGGCTTCTTAATTGCTTTCTGGGCAGAATGTAGATTTTGGATTCCTGTCCATGATGCCTAATGTTGATCTCACTTTCCTTGTTTCTCTCAGTTGCTCATTAATGTGTATTTATTAAAAAAAAAAAAAAAGGATATGGGGCATGAGGTTAGATGCCATGCATATAAGTTGCAGTGGGTGATATGTGCTGAGTGACTTGGGGTCTGCCCCGGCATTCACTTATACTTGTTTCTTACTAAGAAATTGAATGTGCTTTAAGCTGAAAATTAGAAAGCAGTAGGGAAGGACAGGCTGGATGGTTTGGGTTGTTGGTTTAGGAA
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GTGTTTAACAGTTCAAAAATTTAATGAACTATAAGACACACTAAAAGATGTTTGGATTTTAGATCGTTATAATGTAGTATTCAGGCCTTTTTTAGGCCAAGGATGATCGCTTGGGATTATTTTGTTTTTTGCCAGCCTGGCGTGATGCTGTGCACACCGTCAGTTCTTAATAAACATTGACTTGCCAGATGAAACTTCTTCCTGGTCATTCTACCATATGGAGCTATAATACATTTTTCTGAGAGATAATGGCCCATCAGCCATACTGTTTTAGATGGGAGGGTAAGAAAGATTTGTATGTGAATGGCATTTCATAAGTGCTAGTCAAATTACTGAAGAGAAGTCTCTGAGTCTTTCAAACGCCAGCATCTTCTGACACACTGGGCATTAGCTGCATGCAGAAAACTAGTTAATTCAGGCACTAGGAGTAAAGCACATGATGAAATTAAAAGACCTGACGCCTATCTGTGAGGAGCTCCCCTGTTAGCAGGGGCAGTTGAAAACACGTATGTGCAAAATGATTCCAAATCTGAGCAGCAAAGAAACAGTGGCATAACCTTTTTTTTTTTTTTGGACAATTGAAACTGGAATTTAGGTGGTAAAAACAGCACTAGTGGAGCAGGGCACAATGACACACGCCTGTGATCCCAGCACTTTGGGAGACCAAGGCAGTGGATTGTTCAGGAGTTCACCATCCTGGGTGACATGGTGAGACATTGTCTCTACAAAAAAATATAAAAATTAGCCGGGCGTGGTGGCGTGAGCCTGTGGTCCCAACTACTCTCTGGAGCCTGAGGTGAGAAGATCACTTAAGCCTGGTAGGTCAAGGCTGCTCTCTATCCTGGGTGACAGAGTGAGAGCCTGTCTCAAAAAAAAAAAAAACACGAAACAAACCCCAGCACTACTTGGCAGGAGAGCTTGTGATTGGCAGAAAAGAGAAGGGAACGCTCTCACAGCTGGCGAGGACTTGGCTCCTGCCTATAGTCCACTTTCAGAGCAAAAGTAGAGCCACCAGGATGGGCGTTGGTGTTTCCCTCTACAGTGTGGGTAACAGGGCAGGCCCTGCGCTCAGTACCCACATTCCCAGCTCCACTGGACTTCCAGCTCTGTGATCACTGGACACACTTCCAGCTGTGTGATCTTGGACAAGTTATTCTACCTCTCTGGGCATTTTTTCATCTATAAAATGGGGAGGCCTGTGGACAGATTCCTTGAGCACAGGAGTTGGAGACCAGCCTGAGCAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAAAAGAGAAAGAAAGAAAGAAAAAAGCTGGGCATGGTAGCATGCACCTATGGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGTTTGAGTCCAGGAGGCTAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCACCCTGGGTGACAGAGGGAAACCCTGTCTCAAAAAAAAAGAAAATGCAGAAGCACAGCCTCCTCTATCCTTAGTTAACTCTCAGTCTACTTGGAGAGGTAAACTATAGATAAAATAGCTAAAGGACACGAGCAAACATTTAACACTGCATTAAGGGGAAGCCATGGAAAGGAACATTTGGAACCAGCTAGGTTAGTGAGTAGTCAGAGAAAGCCTTTAGGAGACACCCAATGAGGTCTTGAAGGAATAGCTTTTCCTAAGAGGAGATCATGATACAGAGACAAGTATCGTTGGAATGAACGATACTTGTGGAGTGGAACTCATTTGGAGAGTGACAGATCTGAGGAAGTTCCTCTTCTGTGTGGACAGAGGCCACCCCAGGCCTTTGCTTTGCTTTTTCTTATCCATTAGGGTCCGCTGATTCTTTCACCAGCCCCTCCGGCTGTTCTGGCTTGGCCTTGGCCAAAAGACAGAGCAGTGAGACCCCAGGAACTGACTGATAAGCAAAGTTAATCAAGTGCCTGTGTTTCTTTCACAGGACTCTGACACCACCATACCAATGGACGAATCACTGCAGTTTAACTCCTCCCTCCAGAAAGTTCACAACGGCATGGATGACCTCATTTTAGATTGGCACAATATTTTAGATGGACTGAGGACCCAGAGACTGACCTTGAAGGTGGGGTCCCTGCTGGGGGACAGAGAGAAGGCCTCTTGTTTTAGCCTCATCCAACAGTTTAGTAACTGTGTTTATATTTTGATTACGTGTCCTCAAATTGTGATATTTTGATGACAAGACAGAGCCCTTGAGTTTGGGATCCTTTCTGTTGGAGTTGAGTTATTGTGAGCCTGAAAGTACCCAGTTCCTTTGCCAGTGCTTGAAACAAACCATGAAGTGGCCTCTCTTAGGATCCAGGTCTTTTCCCATTTACTGAACTTATCATGAAAGTGAGTGCTACTACGAGGGGTCCAATCACAGGCTGAGAAATTGTGTTACAGAATCTACTCTTGGAAGAATGAAGACGTGGCTGTCCTTTGGTACCTCGCTTTAAGGTGGCTTTCCCTTAGGACCCCTACTGTGGACTGCCTTATAACTAAAACCTTTTGTATTTTAGTAACTGAATCCCCACTGTGCAGTGTTAGGGCTGCCTGGTTGTTTGCAGTAGATTAGAGCTTTAGAAGCTTCTAGAGCTTCTAAAGCCCGTGCTGGTGATCCCAGCGACTCTTCACTCCCTAGCCTTAGGTATTCCTAGAAGCCCTGACCAGTTGGCACTGCTGAGACTCCAGCCCCTGGGAGTGGTTTACAGAAACATTACACAGACTCTGATGTCAGTCATGATGTTTCAGCCTCTGCCCTTTTCCTGTATCAACCCTGATGGATAATAGGGCGTGGGTTCTGTCTGTTATCAGGGTGTGGTCCCCTGTGAATGAAGCACTCCCAGCCACTGAGCTGTGAGAAACAGTCACTCGGAAGTGTGAGCTTTATCTTAGTTTTTGTTGGATCATGTTGAGTCTGTCAGCTCCACAGGACTTCAGTACGTTTCTGAACAGTCCCTGCCATCTCTACGGGGGAGAGGGTCAGGCAAGCTGCAAGTGACACTCACCTCCTGCTGACAGTTGCAGTGTCTCAGATGGCCTGGAAGGGTGGTCTCCAGCAGCCTGCTGGGCGCTCCCCTTTCATGAGAGCCACCTGCAGTGACCTGAACTGATACATGTTGATTAGTCTGCCCTTTCTTTAGAAAACTGCTACTCTCCTTTTCATATCTCAGAAAAACAGTAGAGGCCTTTTAGGACCAAACTCCATGTCACACTGATGAAGAGCCAGTGGGGGTTAGAGCGTCCTGTTAAGGCACATGCTAACTTCCCACTCAAGTCTGGCAGCGCTGGGGCATCAGCACACCTCTTGCCACCCACACTGATACCAGAGGGGAAGGCTGTGAGGTGGCTGGGGGTTGAGACTTGAGGTTTCTAACTTTCCTCTGCACACCTGTGGCTACCTGGTGTTTGTCTCTTGATTCCCTCCACCTGCCTCACACCCTGCCTCCGTCGGGATTTTCCACCTACACCATTCAAAAGGAACATAGGAGAGGGCATGAAGGGGCTAGGCTGAAGCACTCTGATGACTGGGGCCAATTTGTGGCTGAAAATGAATACATTTTTTGAAATTTATGGTCATTTTCAAGTGATTTAGAAGGTTGATCCTTAGCCTCATACAGTGATGAAATAATCTGTGTGTTCAGAGCCAAGCAGGACTTTAGCAAGAGTCTGATTGTATTGTCACTATCTCGGGGAAAAAAAAATACAAATACATTTCTCTGATCTCTGATGGCAATGAAGTTTGACTTGTAATTTCTCTGGCTGAGGCTTCTTAATTGCTTTCTGGGCAGAATGTAGATTTTGGATTCCTGTCCATGATGCCTAATGTTGATCTCACTTTCCTTGTTTCTCTCAGTTGCTCATTAATGTGTATTTATTAAAAAAAAAAAAAAAGGATATGGGGCATGAGGTTAGATGCCATGCATATAAGTTGCAGTGGGTGATATGTGCTGAGTGACTTGGGGTCTGCCCCGGCATTCACTTATACTTGTTTCTTACTAAGAAATTGAATGTGCTTTAAGCTGAAAATTAGAAAGCAGTAGGGAAGGACAGGCTGGATGGTTTGGGTTGTTGGTTTAGGAA
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Task1_train_24836
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A variant on Chromosome 17 in gene CDC27 (cell division cycle 27) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Pulmonary artery atresia
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GTTATCAAAAGCATGCTCCTATACTTATAGACCTCAAAATTACAATTTCTAAAGGCTATGTAATAGTGTATTAGGTTAATATGCAGGTATTTCTCCTGAATTTTCAAAATGTCAAATGAATATAGTGTGGATGGTTTATATTACGGAGACTTCTCATGGCCATAACTAGATGATGATGATGATGATGATGATGATGATGATGATGATGATGGGGAATAAGCATCAAATGAATAAGAAAAAAGCACAACATATCTGCTTTATTTGAGTGGCTTTATATATCATTATACTTGTGTTATAGATGAAGAAAAGGTATTAAACACTATGCTAATGATAGTGAAAGTGAAAACAAAAGAAAGGCTATCTATTTTGTACTTAGAATAAAGTTGCTCAGTATTTAGTTACCTAAATACGTCAGCATTTAAACTCCTCCTAGTAAAAGCTTGCCAATCTGAATAATCCTCCTTTAAACACAATTTTTGATATGGTTAAGTTTTTTAAGAATGCAACTCCTGCAAAATAGCTGAACAGACAATACACATTTAAAAAAAAAACAACACAAGGATCAACCAGACTTGGGAAAAAATCAAAAACAACACAAGTCTTATTAAGAACTGAGTTCCTGGCCGGGTATGGTGGCTCATGCCTGTAATCCCAGCACTGGGAGGCCAAAGTGGGTGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCATACAGTGAGCCAAGATGGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCTGCCTCAAAAAACAAACAAACAAACAAAAAAAAAACTGAGTTCTTAAAATATTACAGAGAACATAGCTATCGGAAGAGACAGCAGCATTGGCAAGTTGATTGTTACATTGGTCAGCAAAAGCTAGCACTATTTTTTTGGCCATCTTTCAGGCAATGTAACTACTACTGCAAAATGAGACATAATCCATTAACAACATATTCACAAATCAAAAAATGTTTTAGTAATATAATGCTTCAGATTTAGAAGCAAATAGAATGATACAACTCAACTGCTATAATAACCCCAAAGATAACCGTATCTGACAAAAAAACTACCACAGAGTTATGGCTTCAGAATTATACCTTATCTTGATATTTAAACTATTAAGTCAGTCCAGAAAAATACAATAAATGTCAACAGTAAGTATGGTGTTGAGGCAGAAATAGGACCAAACTTTTTCATATCTTATTCAGTTGATAACAATATGACCTAGGTAGTAATTTCCTATGTGTCTACTTATACACAAGTACAAAAAAGTAAAATAGAGATACTGCTAAATAAAAGGGTACACTAAGTTCTTAATAGTAACTCAATAAACCAGAACACTGTCAAAAAGCAGCAACTAGTAAATTTTTTCAATTTTTTTTCCTATTATCCAATAAGTGAATTATGCTATTCCTTTCCAATTTCCCAAGCACTTTTCATCCCAATCACCATTTCGGTGTTCGAAGAAAAAGCAACAAAGTAACAAAACTAAACAAACAAAAAACAACTACAGTATCTGCAAAAGTTTGGTAGAAGGCTGAAACTGTTGAGTATAAGGATCTGGTATTCTATTATCATTAGTTAATTTAAGAGTTTGTTAAAGACGTACATTTCATAAGAAAACATTTTAGTTAGAAGTTATTGACCAGTATGTACCATCCCTAAGTATAAGTAACCAAATTCATGATAATAAAGAGCTATCTAACAAGAAAAATTAGTAAGTACCAGCACCATCAATACGACTTTGTCTTTGTACTTCATTACCACTTACCATGCATTATAATGTCTAGGATTGACTCTGATAGCATTTCGAAAACAAGCTAATGCTTTGTCCAATTCTTCAGTTAAGACAAACTCATGCCCTAATAGAGTATAGGCATAAGCGTAATTTGGATCAACTTGGATAGCTCTCTGGAAGAATTTAATTGCAATATCATGTTCCCGTTGCAGACTGAAACAGTTCCCTGCAGCACACCAGGCCTTAAAAAAATGGGAACAAAAACCAAACAGAATTAAAATTTTACTTTTTCTAAAACCAAATCTATGACTAAAATCAAGCCTCAACTTAGAACAGAAAGACAAAAATGGAGGAGCTTCAGTAGATACTCAATTCTAATTATTCACAGATTCCATATTTGTGAATTTGTCTGATTGCTAAAATTTATTTGTAAAACCAAAATCAATACTTGCAGTGCTTTCATAGTCATCAAAAGGTATGTTCTCATTTGAGGTTGAATAATGTGACTCTACCTTCTTGTTTTAGCTCTCATGCAGAGATGACCAGGGACAGAAACTCTGTGGGCTAGTTTAGTGTAGTGCAAGAAGCTTTGGCTCTGGGGACAGTTGGACAGAATTTGAATCCCACTGCTGGCACTTTTAAGTAGGATGGCTTCAGGCAAGTCACCTCTGAACCTCATTCTCTCTCTTTTTTTTTTTTTGAGATCTGGTCTTGTTCTGTTGTCCGGGCTGGAGGGCAGTGGTGTGATCTTGGCTCAATGCAACCTCCGCCACCTAGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCGAGCAGCTGGGACCACAGATGCCAGCCACCATACCTGGCTAATTTTTGTATTTTTTGTGGAGAAGGGTTTTGCCATGTTGCCGAGGCTGGTCTTGGAACTCCTGAGCTCAAGGAATCCGCCTGCCTCAGCCTCCCGAAGTGCTGGGATTATAGGTGTGAGCCACCACACCCAGCAGCATTCTCTCTTTTGTAAAGAAAATAGGATCTACCAGGATGAGTTATTTTTAGGATTCAAGATTATAATCCACAATCTATCTCTGTTTCAAACTCTCCATCACTCCCAGGAACATTGGTTCAGTAGCACTAATTCAGTGTTCATGTTGACTACAGAATTACCGCAAATAATGGGAGTTGACTGTGTTTAATTCTAAGCTTAGATATGTTACAAAAGTATCATTAAATATTTTTGAGATGCAATGAAATACAATCTTACAAGATTAGAGCATGTACATTAATTGCACCTATGTCTTACAATGACAATACTAATTTATTTTAATTTAAAATTATTAATTTTTTCAATCTATGTAACTTCTGCTCAACGAACCCTAATCTTGGTGACAACAGCAAATTTAACGTAGTCAAATCTCGATAAATCCTGAATGAAATAGCTGCTTTGTGATTTTTCTATTTGTGAATCTGCACCACACATTCTAGGACTTTCTCTTCCTCTCTGAGTCCCTGACTAGAGAGAGAGGAAAAAAAAGAAATAAGCGTGGGTGACACTAAATAGTGTTTGAATTGCTTGGTTCATCTCTATCTGTTGAGGGTGATCAAAAAGGTAACTATATAAGCAAAGTATTTTGGTTAACATACCTCTGGCGAATTTTTATCCATGTCTGTTAAGTCTTTTGACAGAACTGAAAGAGCAACATCTTTTTGAAGATGCCAAAGTGTTGTAGAGTAGATCTCCATGCCTTCAACTCTATAATTCTCAATCCTTCTAACCTCTGAGAATATTCTTTCAGCCTGAAATAAAAAAAACTAGTAAGAGAAAACAAGTTGATACAATTTATATATATACACAGGGAAAGCCCTGGTCATTATCTTCACAGGATCTAAATGCTGCCTTGTATTATGGTTTTTATGTGAATGAGTATTAACACAAGGACAAATTCAGCAATCTACTATGGCAGGTCAAATAGTGATGTAACCATATTGACAGTCAACCTAGTATTTATATACAAGCCATGGTAAGAACATGAACTCTGAAAAGGAAATTTGAGTTTCTACCAAAAAGACCGAAGAGAAATCTATACAAAGCTACAATTCAAAAGAAAAGTCAATATTTCCTTCTCAAAAACCTCATTTCCAAGTTTTAATAATGGCATTACAGAATAACTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC
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GTTATCAAAAGCATGCTCCTATACTTATAGACCTCAAAATTACAATTTCTAAAGGCTATGTAATAGTGTATTAGGTTAATATGCAGGTATTTCTCCTGAATTTTCAAAATGTCAAATGAATATAGTGTGGATGGTTTATATTACGGAGACTTCTCATGGCCATAACTAGATGATGATGATGATGATGATGATGATGATGATGATGATGATGGGGAATAAGCATCAAATGAATAAGAAAAAAGCACAACATATCTGCTTTATTTGAGTGGCTTTATATATCATTATACTTGTGTTATAGATGAAGAAAAGGTATTAAACACTATGCTAATGATAGTGAAAGTGAAAACAAAAGAAAGGCTATCTATTTTGTACTTAGAATAAAGTTGCTCAGTATTTAGTTACCTAAATACGTCAGCATTTAAACTCCTCCTAGTAAAAGCTTGCCAATCTGAATAATCCTCCTTTAAACACAATTTTTGATATGGTTAAGTTTTTTAAGAATGCAACTCCTGCAAAATAGCTGAACAGACAATACACATTTAAAAAAAAAACAACACAAGGATCAACCAGACTTGGGAAAAAATCAAAAACAACACAAGTCTTATTAAGAACTGAGTTCCTGGCCGGGTATGGTGGCTCATGCCTGTAATCCCAGCACTGGGAGGCCAAAGTGGGTGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCATACAGTGAGCCAAGATGGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCTGCCTCAAAAAACAAACAAACAAACAAAAAAAAAACTGAGTTCTTAAAATATTACAGAGAACATAGCTATCGGAAGAGACAGCAGCATTGGCAAGTTGATTGTTACATTGGTCAGCAAAAGCTAGCACTATTTTTTTGGCCATCTTTCAGGCAATGTAACTACTACTGCAAAATGAGACATAATCCATTAACAACATATTCACAAATCAAAAAATGTTTTAGTAATATAATGCTTCAGATTTAGAAGCAAATAGAATGATACAACTCAACTGCTATAATAACCCCAAAGATAACCGTATCTGACAAAAAAACTACCACAGAGTTATGGCTTCAGAATTATACCTTATCTTGATATTTAAACTATTAAGTCAGTCCAGAAAAATACAATAAATGTCAACAGTAAGTATGGTGTTGAGGCAGAAATAGGACCAAACTTTTTCATATCTTATTCAGTTGATAACAATATGACCTAGGTAGTAATTTCCTATGTGTCTACTTATACACAAGTACAAAAAAGTAAAATAGAGATACTGCTAAATAAAAGGGTACACTAAGTTCTTAATAGTAACTCAATAAACCAGAACACTGTCAAAAAGCAGCAACTAGTAAATTTTTTCAATTTTTTTTCCTATTATCCAATAAGTGAATTATGCTATTCCTTTCCAATTTCCCAAGCACTTTTCATCCCAATCACCATTTCGGTGTTCGAAGAAAAAGCAACAAAGTAACAAAACTAAACAAACAAAAAACAACTACAGTATCTGCAAAAGTTTGGTAGAAGGCTGAAACTGTTGAGTATAAGGATCTGGTATTCTATTATCATTAGTTAATTTAAGAGTTTGTTAAAGACGTACATTTCATAAGAAAACATTTTAGTTAGAAGTTATTGACCAGTATGTACCATCCCTAAGTATAAGTAACCAAATTCATGATAATAAAGAGCTATCTAACAAGAAAAATTAGTAAGTACCAGCACCATCAATACGACTTTGTCTTTGTACTTCATTACCACTTACCATGCATTATAATGTCTAGGATTGACTCTGATAGCATTTCGAAAACAAGCTAATGCTTTGTCCAATTCTTCAGTTAAGACAAACTCATGCCCTAATAGAGTATAGGCATAAGCGTAATTTGGATCAACTTGGATAGTTCTCTGGAAGAATTTAATTGCAATATCATGTTCCCGTTGCAGACTGAAACAGTTCCCTGCAGCACACCAGGCCTTAAAAAAATGGGAACAAAAACCAAACAGAATTAAAATTTTACTTTTTCTAAAACCAAATCTATGACTAAAATCAAGCCTCAACTTAGAACAGAAAGACAAAAATGGAGGAGCTTCAGTAGATACTCAATTCTAATTATTCACAGATTCCATATTTGTGAATTTGTCTGATTGCTAAAATTTATTTGTAAAACCAAAATCAATACTTGCAGTGCTTTCATAGTCATCAAAAGGTATGTTCTCATTTGAGGTTGAATAATGTGACTCTACCTTCTTGTTTTAGCTCTCATGCAGAGATGACCAGGGACAGAAACTCTGTGGGCTAGTTTAGTGTAGTGCAAGAAGCTTTGGCTCTGGGGACAGTTGGACAGAATTTGAATCCCACTGCTGGCACTTTTAAGTAGGATGGCTTCAGGCAAGTCACCTCTGAACCTCATTCTCTCTCTTTTTTTTTTTTTGAGATCTGGTCTTGTTCTGTTGTCCGGGCTGGAGGGCAGTGGTGTGATCTTGGCTCAATGCAACCTCCGCCACCTAGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCGAGCAGCTGGGACCACAGATGCCAGCCACCATACCTGGCTAATTTTTGTATTTTTTGTGGAGAAGGGTTTTGCCATGTTGCCGAGGCTGGTCTTGGAACTCCTGAGCTCAAGGAATCCGCCTGCCTCAGCCTCCCGAAGTGCTGGGATTATAGGTGTGAGCCACCACACCCAGCAGCATTCTCTCTTTTGTAAAGAAAATAGGATCTACCAGGATGAGTTATTTTTAGGATTCAAGATTATAATCCACAATCTATCTCTGTTTCAAACTCTCCATCACTCCCAGGAACATTGGTTCAGTAGCACTAATTCAGTGTTCATGTTGACTACAGAATTACCGCAAATAATGGGAGTTGACTGTGTTTAATTCTAAGCTTAGATATGTTACAAAAGTATCATTAAATATTTTTGAGATGCAATGAAATACAATCTTACAAGATTAGAGCATGTACATTAATTGCACCTATGTCTTACAATGACAATACTAATTTATTTTAATTTAAAATTATTAATTTTTTCAATCTATGTAACTTCTGCTCAACGAACCCTAATCTTGGTGACAACAGCAAATTTAACGTAGTCAAATCTCGATAAATCCTGAATGAAATAGCTGCTTTGTGATTTTTCTATTTGTGAATCTGCACCACACATTCTAGGACTTTCTCTTCCTCTCTGAGTCCCTGACTAGAGAGAGAGGAAAAAAAAGAAATAAGCGTGGGTGACACTAAATAGTGTTTGAATTGCTTGGTTCATCTCTATCTGTTGAGGGTGATCAAAAAGGTAACTATATAAGCAAAGTATTTTGGTTAACATACCTCTGGCGAATTTTTATCCATGTCTGTTAAGTCTTTTGACAGAACTGAAAGAGCAACATCTTTTTGAAGATGCCAAAGTGTTGTAGAGTAGATCTCCATGCCTTCAACTCTATAATTCTCAATCCTTCTAACCTCTGAGAATATTCTTTCAGCCTGAAATAAAAAAAACTAGTAAGAGAAAACAAGTTGATACAATTTATATATATACACAGGGAAAGCCCTGGTCATTATCTTCACAGGATCTAAATGCTGCCTTGTATTATGGTTTTTATGTGAATGAGTATTAACACAAGGACAAATTCAGCAATCTACTATGGCAGGTCAAATAGTGATGTAACCATATTGACAGTCAACCTAGTATTTATATACAAGCCATGGTAAGAACATGAACTCTGAAAAGGAAATTTGAGTTTCTACCAAAAAGACCGAAGAGAAATCTATACAAAGCTACAATTCAAAAGAAAAGTCAATATTTCCTTCTCAAAAACCTCATTTCCAAGTTTTAATAATGGCATTACAGAATAACTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC
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Task1_train_24837
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A genomic change on Chromosome 17 affects MYL4 (myosin light chain 4). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Atrial fibrillation, familial, 18
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TTGCCTGTAAAACAGCATGGGGCCAGATGATCTCTAAGGGTCCTTCTGGCTCTGAAGGCAATGATCTGGGGCATGGAACCTGTAGTTAGAGAGCTGGGAAATGGGCAGATGTGGGCTCCAGGGCACCCAGAATTGCAGGCTTAGGAGCTAACAGCAACCAGGATTCTGTAGTCTAGCAATCTTGCTTTACAGGTGAGGAAACTGGGCCTAGAAAGGCGAAGTGATTTTTTTGCCTCTCTCAGCTTTATTCCTCTTTTCCTCTGAACTGTAGAGTCTAAAGATTCAGCACAAAGCAGTTTTGTGTAGTGGATACATAAGCTTTTTTGTTGTTATTTTTCTGAATTATTTTGTTGACTTTCAAAGTTTTTTTTACATAAACAGTAAATGCTCGTTATAAAAATTTCCATTAATACAGGAAGTGAAAAAAGTAAAAAACTGCAAATTGCTGTTATCCTCCCACCCTTACCCCCTAGGTCCCCAGAGGTGTCTCTGTTAACAGTTCAGCGTGTATCCATCCTGACTCCTCCAATAAATGCAGAAACTTGTATGTCTCTCCCCGACAACTGGATTATCATATACATTATTCAAGCATAGGCTTTAGACTCAGACATATCTACATCTAATCCCAGCTTATAGCTAATTATTTGAGTGACCTTGGCCAAGTTGTTCATCCAGTTTTAGTCTCAATCTCCCCATGTGTAAAGTGAAAATAATAATAGTATCTACCTGGCCTGGCGTGGCGGCTTATGCCTATAATCCCAGCCCTTTGGAAGACCGAGGCTAGTGGATCCCTTGAGCTCAGGAGTTCAAGACCAACCTGGGCAATTTAGCAAGACCTCATCTCTACTGAAAAACAAAAAACAAAAAAACTCCCCCAAAATTAGCCAAGTGTGCTGGTGTGCACCTGTAGTCCCAGCTACTCGGAAGGCTGAGGTGGGAGAATCGCTTGAGCCAGGAAAGACGAGGCTGCAGTGAGCTGTGATTGCACCACTGCACTGCAACCTGAGCAACAGAGCGATACCTTGTTTCTGTTAAAACAAACAAACAAACAAAATAGTATCTACCTTATAGGATCATGGTGAAGATTTAATGAGATTTTATATGAATAGCACTTAACAGTTCCTGGTACTGATAGTAGTAAGCACTACACACACACACACACACACACACACACACACACACACAGAGCACAGAATGAGTTAGAGGTAAAGTGAAAACTAAACCCCAAGTTTTCTGACCCTCAGTCTCCTCGACTTTCTACCACATCTCTCTGCTTCTCTCCTAGGTGCCTAGGCATGGGTTCAGTGCTCACTACTTGTTGAATGAATGACTGAGGTTGTGTGTAAGGGGGTAGATCTAGGGATCTGAGGTCTGTGGAGTTCCTGGGATGCCTGCTCTGGAAAATGGAGGCTTTCATCCTGTGAGTTGGGAGGGTGTGGGGCAGTGTGGGTTGGCTGGACCAGCTGTTGCTTCAGAGCTCCATGCCTGGAGAGTTGGGCCTCTAGGCAGAGCTGAGGGCCCAGAGTGGCTCTCAGCTTAAAGGATCTTGGCTTAGAAGGAATGTGCAGTGGGCTGCCTCTGCTCGGGAGGGGCTAAAAAAAGCCTCACCCTCCCCTGGGCTTTGTGTGAGGCTTATCAACTGCTCAAGTCAGCTCATCTCTCTGGCTGCTCCGGCATATTTGAGAAGGTCTGTTTCCCTGGTCCTTCTGGGTTTCCACCAATTGGCAAGAAGGGATCAGCCTGTCCTAGAGGTGAAGAGAGAGCTGTGGCATGAAGGGGAGGGGGCTGGTGGCCCCAAACCTGGTGACAATACACAGTTGTCAGCTGTACCCTGCTGGCGTTTCTTCCTTTTATAGTCAGCAGCAGTTGCTCTTGCTTTCACCCAGCCCCTCTGTGGGGGCTCCTGCCCAGGATAAAAGGGAAGGGAGGCAGCCCAGGCTCCTATCTCATCTCCCAGACGCCACGTCTCTCGGTTTCTTCTTAGATCACTCCTCTGCCAAAGATCCCAACAAGACAACATGGCTCCCAAGAAGCCTGAGCCTAAGAAGGAGGCAGCCAAGCCAGCTCCAGCTCCAGCTCCAGCCCCTGCACCAGCCCCTGCCCCAGCTCCTGAGGCTCCCAAGGAACCTGCCTTTGACCCCAAGAGTGTAAAGGTAAGTGAGGCTCAGCCATTGGGATAGAGGTGGGGATGACATTGAGAGTCCTTTTGCTCTGGAGCTTAGCGATCTACTTTATGTGGGCTGGACTGGGATGAGGACTAGGGTGTCCATGCCCCAGATCGCAGTCCCATGGGGCAGTGGAGTGGGTGTTGGGGCTGATGAGGGGGAGATTGAGTCATAAACCTTTTCCGTCAAGAATGAGGTGCTGCTTTGAGGGAGCCCTGTCCTGCTACCCTAGATTTGTGCAGCTAAGTTGGGAATGGGGGGAGGTACAACCAACCATCCATCCACCCTTTTATAAGGCATTATGAGGACCACCATAGCAAAGTAAAACAGACTAGCCTTTTCCTAGGAGGTAGTGGGATATCTTTATGGAGAACAGACAGATCATGGCAGCTGCCAGTGTAACTTGGAGTAAGTGATATAAACAGTCAGGGAATATCCTCCCTGTGCATGGCAGTTTGGGAAAGGCTTCACTCACAAACACTCTTACGGCAGGTGAGGGCAGGGTGGGAAGGAGGTTGTGGTTAAGGTAAGAGGAGCCCGGATTCCTCTCTCTCTTTCCTTACCCAGACGGGCCTTTCCTTCTGTGGCCTTAGCCTGGGTTCCTATCTGTAGCATGCAGAGGACTGGCCCACCCTGGGCTGAGACCCTCTCTCCAACCGGGTCAGGAAGCTGGGCCTGGTTCCTTTGCCCCACCCTGCTCTCCTCACACAAAACATTCCTCTCCCTGGAGCTGGTGTGGGCCCTGCATGCTGACTCAGTCATTTTAGACCTCCCAGCTCTCTGGCCCAGCTGCTGAAGGAATGGAACTGGTGGGAGAGGGGTGGGCTGAAGAGGGAGGGGGCCAGAGACCTCTGAAGAGGAGCAGTTTTAAGCCTTGGCACCAGAGTGGAAAAGGTCAAGTGGCTACTGGTATGAAGAGCTATTAATAACAGGTTGGGAGTGCTGAGCCCCCAGGGATCTCAGCCTTAGGACAGGGCTGGGGGTGGTGAGGGATCAGGTCAAAATAAGAGCACAGGACAAGGTTCTGTGACAAGCAGGCAGGGAAATTAAAACCCAGAGCTCTAATTGTATGACCTCCCTGCCCTCTGAGAATTCCTCTCATACCCACAGCCGGGATAACCCTACAAGTATTATGCCAAAGACCCAGTCCCCGCAAGGGACAGGAACTGCTTAGCCAAGAGATGGAGGCAATTGTCCCTTTTCTGAGCTTGGTTATGGCTCACTCTGGGGAAACTGAGGCTACTGTAGGACCCTGAAAACACCTGCAGGTTTTCTAGGTCATACATCACTCCATTTACAAGCTGAGCCTGGCAGGAAAAGCTGACTATTTCACCCTTCAGGATCCCTCCTCGCCTTTATTTCTGATTTGTTCCCATAAAGCACTGTGCCTTTGGGTGGGTTGCCAGGCCTTGTCCCTGGTGTCTGGGCAACAGCTGCCTAGTGGCATCAAACTGGTGTCCTTCCCTTGGCCTGTCACTTCTTTCATTCACTCTCCTCTCTCAATTTCTCACCCGTGAGAAATTGCACCCCTGGTTGCAATCCTCTTTTCCATATCTGCATCTTCATGGGGGTTGTTGAAGTTGCTTTGAAGTAGAAAAAAAATAGGTATCTTTTATGAGAGACATTTTCCCTATTATTGTGTTATACTTACCCAGTTCCTTTGATTAGAAGGTTCTTTACTCCAAGACAGAAGAGAAGCCAGATGAGGTGATTCATGTTTATAATCCCAGCCCTTTGGGAGGCTGAGGCGGGAGGGTAATTTGAGGCCAGGCATTTGAGTCCAGCCTGGGCAACATGGCAAGATCCTTGTCTCTACAAATAAATAAATAAATTATAAAAAAGATTCGAAGATAGAACAGAAGCAAACTTAAGCCCAGTGTGTGTAGTTAGGACCACGTCTATTGAGATTTTAAGTTTTTACATTAATTGCT
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TTGCCTGTAAAACAGCATGGGGCCAGATGATCTCTAAGGGTCCTTCTGGCTCTGAAGGCAATGATCTGGGGCATGGAACCTGTAGTTAGAGAGCTGGGAAATGGGCAGATGTGGGCTCCAGGGCACCCAGAATTGCAGGCTTAGGAGCTAACAGCAACCAGGATTCTGTAGTCTAGCAATCTTGCTTTACAGGTGAGGAAACTGGGCCTAGAAAGGCGAAGTGATTTTTTTGCCTCTCTCAGCTTTATTCCTCTTTTCCTCTGAACTGTAGAGTCTAAAGATTCAGCACAAAGCAGTTTTGTGTAGTGGATACATAAGCTTTTTTGTTGTTATTTTTCTGAATTATTTTGTTGACTTTCAAAGTTTTTTTTACATAAACAGTAAATGCTCGTTATAAAAATTTCCATTAATACAGGAAGTGAAAAAAGTAAAAAACTGCAAATTGCTGTTATCCTCCCACCCTTACCCCCTAGGTCCCCAGAGGTGTCTCTGTTAACAGTTCAGCGTGTATCCATCCTGACTCCTCCAATAAATGCAGAAACTTGTATGTCTCTCCCCGACAACTGGATTATCATATACATTATTCAAGCATAGGCTTTAGACTCAGACATATCTACATCTAATCCCAGCTTATAGCTAATTATTTGAGTGACCTTGGCCAAGTTGTTCATCCAGTTTTAGTCTCAATCTCCCCATGTGTAAAGTGAAAATAATAATAGTATCTACCTGGCCTGGCGTGGCGGCTTATGCCTATAATCCCAGCCCTTTGGAAGACCGAGGCTAGTGGATCCCTTGAGCTCAGGAGTTCAAGACCAACCTGGGCAATTTAGCAAGACCTCATCTCTACTGAAAAACAAAAAACAAAAAAACTCCCCCAAAATTAGCCAAGTGTGCTGGTGTGCACCTGTAGTCCCAGCTACTCGGAAGGCTGAGGTGGGAGAATCGCTTGAGCCAGGAAAGACGAGGCTGCAGTGAGCTGTGATTGCACCACTGCACTGCAACCTGAGCAACAGAGCGATACCTTGTTTCTGTTAAAACAAACAAACAAACAAAATAGTATCTACCTTATAGGATCATGGTGAAGATTTAATGAGATTTTATATGAATAGCACTTAACAGTTCCTGGTACTGATAGTAGTAAGCACTACACACACACACACACACACACACACACACACACACACAGAGCACAGAATGAGTTAGAGGTAAAGTGAAAACTAAACCCCAAGTTTTCTGACCCTCAGTCTCCTCGACTTTCTACCACATCTCTCTGCTTCTCTCCTAGGTGCCTAGGCATGGGTTCAGTGCTCACTACTTGTTGAATGAATGACTGAGGTTGTGTGTAAGGGGGTAGATCTAGGGATCTGAGGTCTGTGGAGTTCCTGGGATGCCTGCTCTGGAAAATGGAGGCTTTCATCCTGTGAGTTGGGAGGGTGTGGGGCAGTGTGGGTTGGCTGGACCAGCTGTTGCTTCAGAGCTCCATGCCTGGAGAGTTGGGCCTCTAGGCAGAGCTGAGGGCCCAGAGTGGCTCTCAGCTTAAAGGATCTTGGCTTAGAAGGAATGTGCAGTGGGCTGCCTCTGCTCGGGAGGGGCTAAAAAAAGCCTCACCCTCCCCTGGGCTTTGTGTGAGGCTTATCAACTGCTCAAGTCAGCTCATCTCTCTGGCTGCTCCGGCATATTTGAGAAGGTCTGTTTCCCTGGTCCTTCTGGGTTTCCACCAATTGGCAAGAAGGGATCAGCCTGTCCTAGAGGTGAAGAGAGAGCTGTGGCATGAAGGGGAGGGGGCTGGTGGCCCCAAACCTGGTGACAATACACAGTTGTCAGCTGTACCCTGCTGGCGTTTCTTCCTTTTATAGTCAGCAGCAGTTGCTCTTGCTTTCACCCAGCCCCTCTGTGGGGGCTCCTGCCCAGGATAAAAGGGAAGGGAGGCAGCCCAGGCTCCTATCTCATCTCCCAGACGCCACGTCTCTCGGTTTCTTCTTAGATCACTCCTCTGCCAAAGATCCCAACAAGACAACATGGCTCCCAAGAAGCCTGAGCCTAAGAAGAAGGCAGCCAAGCCAGCTCCAGCTCCAGCTCCAGCCCCTGCACCAGCCCCTGCCCCAGCTCCTGAGGCTCCCAAGGAACCTGCCTTTGACCCCAAGAGTGTAAAGGTAAGTGAGGCTCAGCCATTGGGATAGAGGTGGGGATGACATTGAGAGTCCTTTTGCTCTGGAGCTTAGCGATCTACTTTATGTGGGCTGGACTGGGATGAGGACTAGGGTGTCCATGCCCCAGATCGCAGTCCCATGGGGCAGTGGAGTGGGTGTTGGGGCTGATGAGGGGGAGATTGAGTCATAAACCTTTTCCGTCAAGAATGAGGTGCTGCTTTGAGGGAGCCCTGTCCTGCTACCCTAGATTTGTGCAGCTAAGTTGGGAATGGGGGGAGGTACAACCAACCATCCATCCACCCTTTTATAAGGCATTATGAGGACCACCATAGCAAAGTAAAACAGACTAGCCTTTTCCTAGGAGGTAGTGGGATATCTTTATGGAGAACAGACAGATCATGGCAGCTGCCAGTGTAACTTGGAGTAAGTGATATAAACAGTCAGGGAATATCCTCCCTGTGCATGGCAGTTTGGGAAAGGCTTCACTCACAAACACTCTTACGGCAGGTGAGGGCAGGGTGGGAAGGAGGTTGTGGTTAAGGTAAGAGGAGCCCGGATTCCTCTCTCTCTTTCCTTACCCAGACGGGCCTTTCCTTCTGTGGCCTTAGCCTGGGTTCCTATCTGTAGCATGCAGAGGACTGGCCCACCCTGGGCTGAGACCCTCTCTCCAACCGGGTCAGGAAGCTGGGCCTGGTTCCTTTGCCCCACCCTGCTCTCCTCACACAAAACATTCCTCTCCCTGGAGCTGGTGTGGGCCCTGCATGCTGACTCAGTCATTTTAGACCTCCCAGCTCTCTGGCCCAGCTGCTGAAGGAATGGAACTGGTGGGAGAGGGGTGGGCTGAAGAGGGAGGGGGCCAGAGACCTCTGAAGAGGAGCAGTTTTAAGCCTTGGCACCAGAGTGGAAAAGGTCAAGTGGCTACTGGTATGAAGAGCTATTAATAACAGGTTGGGAGTGCTGAGCCCCCAGGGATCTCAGCCTTAGGACAGGGCTGGGGGTGGTGAGGGATCAGGTCAAAATAAGAGCACAGGACAAGGTTCTGTGACAAGCAGGCAGGGAAATTAAAACCCAGAGCTCTAATTGTATGACCTCCCTGCCCTCTGAGAATTCCTCTCATACCCACAGCCGGGATAACCCTACAAGTATTATGCCAAAGACCCAGTCCCCGCAAGGGACAGGAACTGCTTAGCCAAGAGATGGAGGCAATTGTCCCTTTTCTGAGCTTGGTTATGGCTCACTCTGGGGAAACTGAGGCTACTGTAGGACCCTGAAAACACCTGCAGGTTTTCTAGGTCATACATCACTCCATTTACAAGCTGAGCCTGGCAGGAAAAGCTGACTATTTCACCCTTCAGGATCCCTCCTCGCCTTTATTTCTGATTTGTTCCCATAAAGCACTGTGCCTTTGGGTGGGTTGCCAGGCCTTGTCCCTGGTGTCTGGGCAACAGCTGCCTAGTGGCATCAAACTGGTGTCCTTCCCTTGGCCTGTCACTTCTTTCATTCACTCTCCTCTCTCAATTTCTCACCCGTGAGAAATTGCACCCCTGGTTGCAATCCTCTTTTCCATATCTGCATCTTCATGGGGGTTGTTGAAGTTGCTTTGAAGTAGAAAAAAAATAGGTATCTTTTATGAGAGACATTTTCCCTATTATTGTGTTATACTTACCCAGTTCCTTTGATTAGAAGGTTCTTTACTCCAAGACAGAAGAGAAGCCAGATGAGGTGATTCATGTTTATAATCCCAGCCCTTTGGGAGGCTGAGGCGGGAGGGTAATTTGAGGCCAGGCATTTGAGTCCAGCCTGGGCAACATGGCAAGATCCTTGTCTCTACAAATAAATAAATAAATTATAAAAAAGATTCGAAGATAGAACAGAAGCAAACTTAAGCCCAGTGTGTGTAGTTAGGACCACGTCTATTGAGATTTTAAGTTTTTACATTAATTGCT
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Task1_train_24838
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Here is a mutation in ITGB3 (integrin subunit beta 3) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Glanzmann thrombasthenia
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GACAGTTGTGGGGGGGCTTATAATGTTATTTTTAGTTTACAGGTTCTTACAATTTACATAGAATTGTTCAATATTAATTCAACATAGGCTACTGTATGATAAGTTAAGGAGGAATATTGTAATACCTAGAGCAAACACACACACACACACACACACACACACACACACATGCAAACGAGGTGTAGCTAGGAAGCCAGTAGAGAAAAAAAAATTATCCCAAAAGAAAGCAGAAAAAGAGAAACAGAGAAACCAGCCAAAAAGATAGAACGAATAACAAGATAGTAAATGTAAACACAACCATCAATTACTATACTAAATGTGAATGGACTAGCTCCTTTGCCTTCCCTGGGGCTGGGAGTGCAGGATGGACTCACTTGCACAATTATGTCATGTTTGCTAGGGCTTGGGCTAGGGTTGTGGACTTAGCATACTTGCTGAGGCCAGTGCCCACCCCAAGTGGTTGCTGACAGCAGGGATAGGCTAAGGAGACACCTAAGTGGCTGGAGATTGGTTTTATATATATGGGAATGGAGCAGATAACTAAATACTTAGGCAGAGATGTAACCAGGCCATGTGACCTGAACTTTGCTCCAGGGCATTGACACTGCTGTTAAAATGCTTCTGGCCTAGAGGCCCTCTGCAGCCAGGGGAGGTAGATGGAGCTTCAGCCTGAAAACCCAGGTCAGAGGGCCCAAGTACCCTTTGCAGAGCTGGCTTTTCCCCTTGCAAATTGCTAGTGACGCTTCAGCTGATGTGTGTTACTATTAAGGTCCTAGTGTTTGGGAGGGTGGGGCAGGAGGTGGAGGATTGTCAGAAAAAAATTACATGGAAAAAGATGGCATCTGAGATGTTTTGAAAGATAAGTGGAATTTTCCAAGTGGAAAAAGGAAGGAAAATCAGTCAGATAGGAAGGCATGGAGCATTGGGGAATGACAAGTATCTTCTTGGACTAGGGTGGGAGATGGGCTGGAGAGATGGGTCAGGGCCAGTTGTCTGGCATCTTGTGTGTCTCAGAAGAGGGTGGGCACGCTGCGTAGGGAAGCCCAGGGCCACTCTGAAAGCCCTAAAGGGGAACTGATGCCTCTGGCCTTGTTTTTATCACCATCAGGACTACCCATTGAGGCAGGCTGCACTACCAGCTACTTCCTGGTGCCCTCTTGCTCATAGCCATAGTATTTTGCCTCTCTGAGCTTCCAGAGGTTTTAAGTCTGGGGAAGACCCAGGGACTCAAAGAAAGATTGGGGTGGGAGATAAGGGGCCACAGTTTGGGGGAGTCAGGCAGGAGGCCTTTGAGGAAAATAGATAAAGTCCCAAAGCCTGTGAGTGTGAATTTGGAGGCAATATGCTGTGTTCTGAAACGTTTTCAGACACTGGCTAGGTGCAAGCAAGTGTTTGTAGGGCGAGGCTCTTCATGGACCTATCACTGCTTACGCAAGCTTGGGATGTGGTCTTGCCCTCAACAGGTAGGTAGTCTACCGGAAAACCAAACTAAGGCAAGAAAAAAATTAGTGAATAATAAAGGACTGAACCGGTTCAGAGAAGGCATTCAGCAGATGTTTGCCAGTCAAATGAATTAAAGTGTGAATGAATGAAACTCGAGGTAGTGGGTGAATGTGTCCCAAGAATCCAGCGAAACAGGGTCTCCCAGGAGGCGGGACTGGAAGGGTCCGGAGAGGGGCCACAGGCTCCTGGCCTTTCTAAGCACACCAAGTGCCCAGTCGCGGACCCCCGGGACCAGGATGCGCTGACGACCCGGCTGGCAGGCGGGTCCTCGTGGGCGAGGCGAGGGAGGCGGCGAGAGAGGAGCAATAGTTTCCCACCGCTCCCTCTCAGGCGCAGGGTCTAGAGAAGCGCGAGGGGATCTAGAGAAGCCGGAGGGGAGGAAGCGCGAGTCCGCGGCCCGCCCCGTTGCGTCCCACCCACCGCGTCCCCTCCCCTCCCCTCCCGCTGCGGGAAAAGCGGCCGCGGGCGGCGGCGCCCACTGTGGGGCGGGCGGAGCGCCGCGGGAGGCGGACGAGATGCGAGCGCGGCCGCGGCCCCGGCCGCTCTGGGCGACTGTGCTGGCGCTGGGGGCGCTGGCGGGCGTTGGCGTAGGAGGTGAGTGAGGCTCCGGCTCGGCAGCGTCGCAGCTGCCCCAGGATCTGCGCCCCGGTCAAGTTGCGGACTTGGAGCCGGCAAACGCGGAGGGCTGGTCCCGCGCGTCTGCGCTGGGAATGCGCGTGTCCTGGCTGGCGCGGTCGGAGCCGGGAGCTGGGGACCTTCCTGGCCCGGCGGTGGCGGGGCTGAGAGGTGCCTGGTGCCTGGGAGCGGGTCCTCCGAGACGCCGAAGCCATCAGCCAGGCTGAGCGCCTTCCCGGCCGCCGCGGCGCGCACGGTGCGGTGGGCGCATCTCTGAGCCCCGCGCTCACCCGGGGCTGCGCGCGTCGCGGGTGGTCCTGGTCGGGCCAAGGACGACTGGCCCAGGAGCCAAGGCGAGGTGGGGCTTCCGGGGGTTGTTCCCGCGCCTTGGCAGAGGGATGCCGCTGTAGCTTCCTGGGTGAGAGCGTGCGCGCGCGCGGGTTTGCCAGTTTCCCCACATTTCCAATTTCTCCTGTTACGCTTTCTCCAGAAGGTTTTTTCTTTTCCTTTTTTCTTTCTTTCTTTCTTTTTTTTACCTTCAACTTGGCTTCCTGCGGGGTTGTTTTGGAGCAGGATGAGGGCTTTGCCTCCTCCAGTGTCCCCAGGTGGCAGCGGTGCCTCTGCTCCCAGGGCAGACCCTGCACCCGAAAAATCTCTAGTGTATTCGGGGAGCCATGAAAAGGCTCCCTTGGGCCGGTGGGATCCTTGGCTTTGTCTCTGGCTGCTGCGCACACCGTCAGCCGTCAGGGCAATTGGCATTCGGCCTCTTTGGTACTGGGGACACAGGTGGAGGGATGGAGCGGGCACAGCCCGGGGTTGCTGCCCGTGGTCCTCTCTGAGTCCTTGGTGATTTTGCCTGGGCTGGAGAGAAACCCTGGCTCCTGGTCTGCTGGGGCCGCCTCTGCCTCAGAGGATGACACAAGAGTGCATGTAAGTATTTTTAATAAAAACTGTAGTACTCGTAAAACAATCTACACCCTGCAGAAGGGATTTGTTATTTTATTTTATTATTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGTTCTCGGCTCACTGCAACTTCTGCCTCCTGGGTTTAAGCGATTCTTCTGGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGGCCGGCTAATTTTTGTATTTTTAGTAGAGACGCGGTTTCACCATGTTGGCCAGGCTGGTCTGGAGCTCCTGGCCTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGCCACCGCACCTGGCCAGGATTTATTTTAAAAAGGGAAGATTTGTTGATAAATTCACTTCAAAGATAAACTATTCGAAAATACTTTAGTGATTCCCGTCAAGACTCTTCTGTGTATGTATAGACGTATAACTCATTCTGGACAGGGCAAGGATATCTTTTTTTGTTTGTTTGTTTGTTTTGAGATGGACTCTCGCTGTCGCCAGGCTAGAGTGCAGTGGCGCGATTTCAGCTCACTGCAACCTCCGCTTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCACGCCCTACTAATTTTTGTATTTTTAGTAGAGACGGGATTTCCCCATGTTGGCCAGGATGATCTCGATCTCTTGACCCCGTGATCAGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAAGGGTATCTTGAAGGAGGGATTACAGTTGATATGTAGAGGAATATTGCAGTGGTTATTGCTGCATTTCCTATGTGACTGGGACTAAAACAGATCAGCTGATAGTGTTAGCGTGCAGTGAGCAGTCTGATGACTATGACACAGAAATAAGAATCTCCAGCATTCTGCCCTGGGACATGTGGAGCCTTGGGTCAGATGCTGCTGGCTATTGATGCCGGGAA
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GACAGTTGTGGGGGGGCTTATAATGTTATTTTTAGTTTACAGGTTCTTACAATTTACATAGAATTGTTCAATATTAATTCAACATAGGCTACTGTATGATAAGTTAAGGAGGAATATTGTAATACCTAGAGCAAACACACACACACACACACACACACACACACACACATGCAAACGAGGTGTAGCTAGGAAGCCAGTAGAGAAAAAAAAATTATCCCAAAAGAAAGCAGAAAAAGAGAAACAGAGAAACCAGCCAAAAAGATAGAACGAATAACAAGATAGTAAATGTAAACACAACCATCAATTACTATACTAAATGTGAATGGACTAGCTCCTTTGCCTTCCCTGGGGCTGGGAGTGCAGGATGGACTCACTTGCACAATTATGTCATGTTTGCTAGGGCTTGGGCTAGGGTTGTGGACTTAGCATACTTGCTGAGGCCAGTGCCCACCCCAAGTGGTTGCTGACAGCAGGGATAGGCTAAGGAGACACCTAAGTGGCTGGAGATTGGTTTTATATATATGGGAATGGAGCAGATAACTAAATACTTAGGCAGAGATGTAACCAGGCCATGTGACCTGAACTTTGCTCCAGGGCATTGACACTGCTGTTAAAATGCTTCTGGCCTAGAGGCCCTCTGCAGCCAGGGGAGGTAGATGGAGCTTCAGCCTGAAAACCCAGGTCAGAGGGCCCAAGTACCCTTTGCAGAGCTGGCTTTTCCCCTTGCAAATTGCTAGTGACGCTTCAGCTGATGTGTGTTACTATTAAGGTCCTAGTGTTTGGGAGGGTGGGGCAGGAGGTGGAGGATTGTCAGAAAAAAATTACATGGAAAAAGATGGCATCTGAGATGTTTTGAAAGATAAGTGGAATTTTCCAAGTGGAAAAAGGAAGGAAAATCAGTCAGATAGGAAGGCATGGAGCATTGGGGAATGACAAGTATCTTCTTGGACTAGGGTGGGAGATGGGCTGGAGAGATGGGTCAGGGCCAGTTGTCTGGCATCTTGTGTGTCTCAGAAGAGGGTGGGCACGCTGCGTAGGGAAGCCCAGGGCCACTCTGAAAGCCCTAAAGGGGAACTGATGCCTCTGGCCTTGTTTTTATCACCATCAGGACTACCCATTGAGGCAGGCTGCACTACCAGCTACTTCCTGGTGCCCTCTTGCTCATAGCCATAGTATTTTGCCTCTCTGAGCTTCCAGAGGTTTTAAGTCTGGGGAAGACCCAGGGACTCAAAGAAAGATTGGGGTGGGAGATAAGGGGCCACAGTTTGGGGGAGTCAGGCAGGAGGCCTTTGAGGAAAATAGATAAAGTCCCAAAGCCTGTGAGTGTGAATTTGGAGGCAATATGCTGTGTTCTGAAACGTTTTCAGACACTGGCTAGGTGCAAGCAAGTGTTTGTAGGGCGAGGCTCTTCATGGACCTATCACTGCTTACGCAAGCTTGGGATGTGGTCTTGCCCTCAACAGGTAGGTAGTCTACCGGAAAACCAAACTAAGGCAAGAAAAAAATTAGTGAATAATAAAGGACTGAACCGGTTCAGAGAAGGCATTCAGCAGATGTTTGCCAGTCAAATGAATTAAAGTGTGAATGAATGAAACTCGAGGTAGTGGGTGAATGTGTCCCAAGAATCCAGCGAAACAGGGTCTCCCAGGAGGCGGGACTGGAAGGGTCCGGAGAGGGGCCACAGGCTCCTGGCCTTTCTAAGCACACCAAGTGCCCAGTCGCGGACCCCCGGGACCAGGATGCGCTGACGACCCGGCTGGCAGGCGGGTCCTCGTGGGCGAGGCGAGGGAGGCGGCGAGAGAGGAGCAATAGTTTCCCACCGCTCCCTCTCAGGCGCAGGGTCTAGAGAAGCGCGAGGGGATCTAGAGAAGCCGGAGGGGAGGAAGCGCGAGTCCGCGGCCCGCCCCGTTGCGTCCCACCCACCGCGTCCCCTCCCCTCCCCTCCCGCTGCGGGAAAAGCGGCCGCGGGCGGCGGCGCCCACTGTGGGGCGGGCGGAGCGCCGCGGGAGGCGGACGAGATGCGAGCGCGGCCGCGGCCCCGGCCGCTCCGGGCGACTGTGCTGGCGCTGGGGGCGCTGGCGGGCGTTGGCGTAGGAGGTGAGTGAGGCTCCGGCTCGGCAGCGTCGCAGCTGCCCCAGGATCTGCGCCCCGGTCAAGTTGCGGACTTGGAGCCGGCAAACGCGGAGGGCTGGTCCCGCGCGTCTGCGCTGGGAATGCGCGTGTCCTGGCTGGCGCGGTCGGAGCCGGGAGCTGGGGACCTTCCTGGCCCGGCGGTGGCGGGGCTGAGAGGTGCCTGGTGCCTGGGAGCGGGTCCTCCGAGACGCCGAAGCCATCAGCCAGGCTGAGCGCCTTCCCGGCCGCCGCGGCGCGCACGGTGCGGTGGGCGCATCTCTGAGCCCCGCGCTCACCCGGGGCTGCGCGCGTCGCGGGTGGTCCTGGTCGGGCCAAGGACGACTGGCCCAGGAGCCAAGGCGAGGTGGGGCTTCCGGGGGTTGTTCCCGCGCCTTGGCAGAGGGATGCCGCTGTAGCTTCCTGGGTGAGAGCGTGCGCGCGCGCGGGTTTGCCAGTTTCCCCACATTTCCAATTTCTCCTGTTACGCTTTCTCCAGAAGGTTTTTTCTTTTCCTTTTTTCTTTCTTTCTTTCTTTTTTTTACCTTCAACTTGGCTTCCTGCGGGGTTGTTTTGGAGCAGGATGAGGGCTTTGCCTCCTCCAGTGTCCCCAGGTGGCAGCGGTGCCTCTGCTCCCAGGGCAGACCCTGCACCCGAAAAATCTCTAGTGTATTCGGGGAGCCATGAAAAGGCTCCCTTGGGCCGGTGGGATCCTTGGCTTTGTCTCTGGCTGCTGCGCACACCGTCAGCCGTCAGGGCAATTGGCATTCGGCCTCTTTGGTACTGGGGACACAGGTGGAGGGATGGAGCGGGCACAGCCCGGGGTTGCTGCCCGTGGTCCTCTCTGAGTCCTTGGTGATTTTGCCTGGGCTGGAGAGAAACCCTGGCTCCTGGTCTGCTGGGGCCGCCTCTGCCTCAGAGGATGACACAAGAGTGCATGTAAGTATTTTTAATAAAAACTGTAGTACTCGTAAAACAATCTACACCCTGCAGAAGGGATTTGTTATTTTATTTTATTATTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGTTCTCGGCTCACTGCAACTTCTGCCTCCTGGGTTTAAGCGATTCTTCTGGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGGCCGGCTAATTTTTGTATTTTTAGTAGAGACGCGGTTTCACCATGTTGGCCAGGCTGGTCTGGAGCTCCTGGCCTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGCCACCGCACCTGGCCAGGATTTATTTTAAAAAGGGAAGATTTGTTGATAAATTCACTTCAAAGATAAACTATTCGAAAATACTTTAGTGATTCCCGTCAAGACTCTTCTGTGTATGTATAGACGTATAACTCATTCTGGACAGGGCAAGGATATCTTTTTTTGTTTGTTTGTTTGTTTTGAGATGGACTCTCGCTGTCGCCAGGCTAGAGTGCAGTGGCGCGATTTCAGCTCACTGCAACCTCCGCTTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCACGCCCTACTAATTTTTGTATTTTTAGTAGAGACGGGATTTCCCCATGTTGGCCAGGATGATCTCGATCTCTTGACCCCGTGATCAGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAAGGGTATCTTGAAGGAGGGATTACAGTTGATATGTAGAGGAATATTGCAGTGGTTATTGCTGCATTTCCTATGTGACTGGGACTAAAACAGATCAGCTGATAGTGTTAGCGTGCAGTGAGCAGTCTGATGACTATGACACAGAAATAAGAATCTCCAGCATTCTGCCCTGGGACATGTGGAGCCTTGGGTCAGATGCTGCTGGCTATTGATGCCGGGAA
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Task1_train_24839
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This genomic variant is located on Chromosome 17, within the ITGB3 (integrin subunit beta 3) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Glanzmann thrombasthenia
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GAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAG
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GAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGAGGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAG
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Task1_train_24840
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This gene mutation involves ITGB3 (integrin subunit beta 3) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Glanzmann thrombasthenia
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GGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTT
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GGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGTACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTT
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Task1_train_24841
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Located on Chromosome 17, this mutation impacts ITGB3 (integrin subunit beta 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Glanzmann thrombasthenia
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CTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTG
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CTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCATCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTG
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Task1_train_24842
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This variant affects gene ITGB3 (integrin subunit beta 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Glanzmann thrombasthenia
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GTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGA
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GTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCCAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGA
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Task1_train_24843
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This gene mutation involves ITGB3 (integrin subunit beta 3) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Glanzmann thrombasthenia
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GGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAA
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GGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACAGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAA
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Task1_train_24844
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The gene ITGB3 (integrin subunit beta 3), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Glanzmann thrombasthenia
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GGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTT
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GGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCAAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTT
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Task1_train_24845
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Located on Chromosome 17, this mutation impacts ITGB3 (integrin subunit beta 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Glanzmann thrombasthenia
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ACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTTAAA
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ACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGTTGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTTAAA
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Task1_train_24846
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This variant impacts the gene ITGB3 (integrin subunit beta 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Glanzmann thrombasthenia
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ATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTTAAATTGAATCAGGAGAAATTACTATAAGCCATAAGAGAAATGTGCTGTAATGCTCTAGGTATCTGGGGCAGGTGTGAACTCTTCGTCTCCTAAGGACAATATAGCAACTTCCTCATCTAGGTGACTTAAAGGTGTACCTGTGTAAAGGCAGGAGACTGAGCTGAGGATCTAATGAGCTCCCTGCAAGGTCTAGGATCCCATGGACATGTTCACGATTCACCACCGCCCCCGCACAGTGTCCTTGAGTTCCTTGGTGTCAGCCATATCCAAGTCAAGCACTACCAGACAATGAGTCAGCAACATTTGACCCCTAATCTATGCAAGGCACTGGGCCAGGGGCTGAGGGAGGTAACAAGACTATGTATGGTTCTATCCTTGGGGAGTTTTTGGTCTACTTGAGGAGAAAGGATATATATATTTACAATAACACAAGATGCATGATTAGTGCCAAATGGGTGTGGCACAGCCAATGTGGCTATACGTATCCAAGGGAGGAAAGGTCATCATGAGCTGGGATGGCCAAGGAAGTCTCCTGAAGAAGGTGGGGGCTAAGCTAGGCCCTAAGAAAGGAGGAGGATTACCAACAAGAAGGCCACTCCAGGTGGGAGACAGTGGGCCAGATCACTGCTGAGTGGAAGAGGGAGAGAGGTGAGCAATATTTGGAAAGAAAGACTGAGACCACACGGTGGAGGATCACGAGGGCCAGGCCAAGGCATTTGTCAGTAGTTCCAAAACAGAGGCCTAACCCAGTCCCTTGTGCACGGAAGCAGCTCCATAGTATTAGT
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ATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCCGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTTAAATTGAATCAGGAGAAATTACTATAAGCCATAAGAGAAATGTGCTGTAATGCTCTAGGTATCTGGGGCAGGTGTGAACTCTTCGTCTCCTAAGGACAATATAGCAACTTCCTCATCTAGGTGACTTAAAGGTGTACCTGTGTAAAGGCAGGAGACTGAGCTGAGGATCTAATGAGCTCCCTGCAAGGTCTAGGATCCCATGGACATGTTCACGATTCACCACCGCCCCCGCACAGTGTCCTTGAGTTCCTTGGTGTCAGCCATATCCAAGTCAAGCACTACCAGACAATGAGTCAGCAACATTTGACCCCTAATCTATGCAAGGCACTGGGCCAGGGGCTGAGGGAGGTAACAAGACTATGTATGGTTCTATCCTTGGGGAGTTTTTGGTCTACTTGAGGAGAAAGGATATATATATTTACAATAACACAAGATGCATGATTAGTGCCAAATGGGTGTGGCACAGCCAATGTGGCTATACGTATCCAAGGGAGGAAAGGTCATCATGAGCTGGGATGGCCAAGGAAGTCTCCTGAAGAAGGTGGGGGCTAAGCTAGGCCCTAAGAAAGGAGGAGGATTACCAACAAGAAGGCCACTCCAGGTGGGAGACAGTGGGCCAGATCACTGCTGAGTGGAAGAGGGAGAGAGGTGAGCAATATTTGGAAAGAAAGACTGAGACCACACGGTGGAGGATCACGAGGGCCAGGCCAAGGCATTTGTCAGTAGTTCCAAAACAGAGGCCTAACCCAGTCCCTTGTGCACGGAAGCAGCTCCATAGTATTAGT
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Task1_train_24847
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This variant impacts the gene ITGB3 (integrin subunit beta 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Glanzmann thrombasthenia
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GCCATTTACAAGGCATATGGCCTTGGGAAAGTTACTTAACCTCTCTGACCTCAAAGGGTTGTTATAACAAATGAAAAGGATAACATACTAAAGAACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAGCCCACAAGCCTAGGCAATATAACAAGACTCCCATCTGTACAAAAACAAAAATAATTAGCCAGCTGCAGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAAGATCACTTGAGCCCAGGAGTTTGAAGTTACAGTGAGCAATGATTGCACCACTGCACTGTAGCCTGGGTGATAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGCAAATAAATAAAAAGAAAAAGAACTTGGCACAGTACTTGACACATATTAAATGCCTCCTTGGTTGGTTTGGAAAGTAGATACACATTCTCTTCTCTAAATGCTTTCCAAGTCTGTTCCACTGCACTCCCAGATATGATATGATGAGGTCAGATTGAGAAGGGAACCAGGTCAAGAAAGACAGGTTGTGTTGGTGAACTTGAACTGCGCCTGTAACTTTAAATAATTAATTAATTAAAAAAATGTTGAATTGTGGCAAACATTTCTCCACCTGTTGAGTGCAGAGGCAGGAACCAGGATGAGTCAACAGGGGCATGGGGGAGGCCATCGGGCTACGTGAGGTCATTACTAGTGATTGTCTCTACTGCTGTTCACCTTAGGAAAATCTCTCTTTTTTTCATTTAATTTCTCTTATTTTCTGACTTCTTTTCTCTATGGCATTCATGGGATTTGTTTAACTGCACTGGCCCTCGGCAGTCTGGGAGGTAGGGGATATTTGTTCTCTCTGCTTACTTGGCTCCGTTGGCCAACTCCATGGGTTCTCAGTGCCGTCCCTCTGCCCCTTGGATGCCCCACCCCATCTACCCATACATTCAGGGTGCTCTGTGTGCACTTTCCCTCTCTGCATTTGGAATAACCCCATGCCCTGGATCTCTCCTTTCCTTCTTTCCCTATGCTACAATTTTCCTGTCTTGTGCATGTGCCCTCAGAGCCCTGCTTCTCATCCTGCAAGGTAACACCTAGCTGATTTGAGAAATGGAAGTGGTGGCTGCTTTGTTAGTGGGACGGGACCAGCTCTTCCAAACTGGACCCTATGTTGTTGTCTAACCCAACTGGGTGGCCACGATGACGACAATGGTAGTAGGCCTCTCAGGTCAGGTAGGAGAGGCGAGCAGCGCTGTGTCAGGTCAAAGGGAGAGAGTTTTGGGGCCTGTGAGGCCTTTTGCCATCATCAAGTCACACCGTCAAGGCTACTGAGTGCCCTGTGTAGGTTCAGGGCTGTGGCTTTGTGCTGTGTCAGCCAAACTAGAAGGGCTAAAGAGCTTGCTTCTAGTTCTTAGACTAGAAGGAACTAAGTCTTCTAAGCCTCCTACCCTTTCTCTTGCCTTTCTCAGAAGGCAGAGGTATTCAGAAAAGGGCAAGAGAGAGGGCAAGAGGCCCAGGAGACTTAGTTCCTGAGAATCTTTTGCTCTACAGTGGCTCCGAGCAAGTCCTGCCATACCTTGGGACCCCTAGAAAACTGAGTTTGTCCCTGCTGGGTAGGACTCCCCTGGGTGGTGAGCCAATTCCCTGCCAACCTGGAGGATCATTATCTGTGTGGTTGGGAGAGCAGGATGGTCGTGTGTAGCCTGCTGCCATGGGAGTGGAGCTCTCGCCAGCGGGTCCACCTTCCTGGGCTGTGTGTTTTCAGGCCATGGCCAGTGCAGCTGTGGGGACTGCCTGTGTGACTCCGACTGGACCGGCTACTACTGCAACTGTACCACGCGTACTGACACCTGCATGTCCAGCAATGGGCTGCTGTGCAGCGGCCGCGGCAAGTGTGAATGTGGCAGCTGTGTCTGTATCCAGCCGGGCTCCTATGGGGACACCTGTGAGAAGTGCCCCACCTGCCCAGATGCCTGCACCTTTAAGAAGTGAGTGTGGAGTCTGGAGAGAGCCGGGAGGCTGGGAGGTAGGAGAGGATCCCCTGACTAGAATCCCCAGCTCTCCAGGTGTGTTTCTTGCTCACCAGAGCCTTAGGGAGAGGAGTCCACTCCAGCCAGATGGCTGTCTCTCCTTTTGCCAAAGGCTTTGGGCAAGTTGGAATAGAGCCAACTGTGAAGGAGCCAAAGTTGAACGAGCTGGACTTCGATTGAGAATGTCCTCTCCTAGGGTGACATCCTGACTCCCTCTGAGCTGGGAGGAAGGCTAAACCAGTCTGAGGAACAATCCAGTGCTAATGTTCTGATTCAGTGGGAGATGTGAGGGCTGGAATTATGGAGGACACTCTGTGAAACTACTACAAACCTCCCACTTTAGGGGCCAGAGGAAGCCCCATCAGCCTGAGTCCATGGCACTGCCATTCTGCTTACCACTTTAAGCAGGGCCAGATTTACGAGTGTGCAACCTATGCAGCTGTATAGGGCCCTGTGCCTACAAGGGCCTCATGCTTGTTTTAATGCTCTGCCATCACTGTCTTGACATTCTTAGTAATCTTTGAACAAGGGAGCTGACATTTTCATTTTGCACTGGGCCCCCAAATGACATGACTGGTTCTGACTTTATAGTTCTCAGAAATGGCATAGGGTTCACCATCCTGGCACAGCCCTGGATGGGACGGGAAGTTTAATGAAGGACCTGGGAGGCTTCTGGCTGCCAGGTGCTGCCTACAGGTGAGGGGGACACTCCCACCCCTGAACTCCACACTTGCCATTCAGGTCCCCAGGATTGTCTTACAGGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTTTTAATGGAGGTGGAGCAGCTTTCTGAATGCATGGAGATCAGAGCTGGACTGGGATACGCTTAGGCTTGCTCCTTCTTTGCCTTAATCACTGTGTCCTCTCTCCTTCAGAGAATGTGTGGAGTGTAAGAAGTTTGACCGGGGAGCCCTACATGACGAAAATACCTGCAACCGTTACTGCCGTGACGAGATTGAGTCAGTGAAAGAGCTTAGTAAGTTCAGCACATCTTAGAGTTGCACACACCCAGGTTCTAAATGTTTCTAATTCAATCCCAGAACCTATCCAACTCCCACCTGTAAAATGGAAGCGTGACTTCTACCTCAGGGAATGTTGTGCAGGCTTGAGGAACAATGGACACTTGATGTGAGCTGGTGTCTCTGAGAGTTGTCCTCCTCTCTTACTAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCAAGATTTTGCTTAAAGCTTTGCAGTTTGGAGGGAAACCTTCAACCTTATGGATAGGCAACCAAAAGCTTTATCTGAAGTCCTTCTGCCTCTCTGGGGCCCCTTTTGAAATAAGACAGACAGAAATACAAACAATAGGGAGAAAAAAAATCTTGCCTGCAATTATTCTTGAAGTATTCTCTGTCCTTCATCTTAACTTAAAAGGAGATGATCTTTGCTGCTGTCATCACATCTGATATAGTTATGTGGGCCAGCGAGGCATTGAGATGGTACTCTAGTACTAGAGAGATGGCAATCTCTCCATAGATAGCAATCTCCCATGAAGGCAGAAACACATTTCAGAGAGAGCCACAGTAA
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GCCATTTACAAGGCATATGGCCTTGGGAAAGTTACTTAACCTCTCTGACCTCAAAGGGTTGTTATAACAAATGAAAAGGATAACATACTAAAGAACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAGCCCACAAGCCTAGGCAATATAACAAGACTCCCATCTGTACAAAAACAAAAATAATTAGCCAGCTGCAGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAAGATCACTTGAGCCCAGGAGTTTGAAGTTACAGTGAGCAATGATTGCACCACTGCACTGTAGCCTGGGTGATAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGCAAATAAATAAAAAGAAAAAGAACTTGGCACAGTACTTGACACATATTAAATGCCTCCTTGGTTGGTTTGGAAAGTAGATACACATTCTCTTCTCTAAATGCTTTCCAAGTCTGTTCCACTGCACTCCCAGATATGATATGATGAGGTCAGATTGAGAAGGGAACCAGGTCAAGAAAGACAGGTTGTGTTGGTGAACTTGAACTGCGCCTGTAACTTTAAATAATTAATTAATTAAAAAAATGTTGAATTGTGGCAAACATTTCTCCACCTGTTGAGTGCAGAGGCAGGAACCAGGATGAGTCAACAGGGGCATGGGGGAGGCCATCGGGCTACGTGAGGTCATTACTAGTGATTGTCTCTACTGCTGTTCACCTTAGGAAAATCTCTCTTTTTTTCATTTAATTTCTCTTATTTTCTGACTTCTTTTCTCTATGGCATTCATGGGATTTGTTTAACTGCACTGGCCCTCGGCAGTCTGGGAGGTAGGGGATATTTGTTCTCTCTGCTTACTTGGCTCCGTTGGCCAACTCCATGGGTTCTCAGTGCCGTCCCTCTGCCCCTTGGATGCCCCACCCCATCTACCCATACATTCAGGGTGCTCTGTGTGCACTTTCCCTCTCTGCATTTGGAATAACCCCATGCCCTGGATCTCTCCTTTCCTTCTTTCCCTATGCTACAATTTTCCTGTCTTGTGCATGTGCCCTCAGAGCCCTGCTTCTCATCCTGCAAGGTAACACCTAGCTGATTTGAGAAATGGAAGTGGTGGCTGCTTTGTTAGTGGGACGGGACCAGCTCTTCCAAACTGGACCCTATGTTGTTGTCTAACCCAACTGGGTGGCCACGATGACGACAATGGTAGTAGGCCTCTCAGGTCAGGTAGGAGAGGCGAGCAGCGCTGTGTCAGGTCAAAGGGAGAGAGTTTTGGGGCCTGTGAGGCCTTTTGCCATCATCAAGTCACACCGTCAAGGCTACTGAGTGCCCTGTGTAGGTTCAGGGCTGTGGCTTTGTGCTGTGTCAGCCAAACTAGAAGGGCTAAAGAGCTTGCTTCTAGTTCTTAGACTAGAAGGAACTAAGTCTTCTAAGCCTCCTACCCTTTCTCTTGCCTTTCTCAGAAGGCAGAGGTATTCAGAAAAGGGCAAGAGAGAGGGCAAGAGGCCCAGGAGACTTAGTTCCTGAGAATCTTTTGCTCTACAGTGGCTCCGAGCAAGTCCTGCCATACCTTGGGACCCCTAGAAAACTGAGTTTGTCCCTGCTGGGTAGGACTCCCCTGGGTGGTGAGCCAATTCCCTGCCAACCTGGAGGATCATTATCTGTGTGGTTGGGAGAGCAGGATGGTCGTGTGTAGCCTGCTGCCATGGGAGTGGAGCTCTCGCCAGCGGGTCCACCTTCCTGGGCTGTGTGTTTTCAGGCCATGACCAGTGCAGCTGTGGGGACTGCCTGTGTGACTCCGACTGGACCGGCTACTACTGCAACTGTACCACGCGTACTGACACCTGCATGTCCAGCAATGGGCTGCTGTGCAGCGGCCGCGGCAAGTGTGAATGTGGCAGCTGTGTCTGTATCCAGCCGGGCTCCTATGGGGACACCTGTGAGAAGTGCCCCACCTGCCCAGATGCCTGCACCTTTAAGAAGTGAGTGTGGAGTCTGGAGAGAGCCGGGAGGCTGGGAGGTAGGAGAGGATCCCCTGACTAGAATCCCCAGCTCTCCAGGTGTGTTTCTTGCTCACCAGAGCCTTAGGGAGAGGAGTCCACTCCAGCCAGATGGCTGTCTCTCCTTTTGCCAAAGGCTTTGGGCAAGTTGGAATAGAGCCAACTGTGAAGGAGCCAAAGTTGAACGAGCTGGACTTCGATTGAGAATGTCCTCTCCTAGGGTGACATCCTGACTCCCTCTGAGCTGGGAGGAAGGCTAAACCAGTCTGAGGAACAATCCAGTGCTAATGTTCTGATTCAGTGGGAGATGTGAGGGCTGGAATTATGGAGGACACTCTGTGAAACTACTACAAACCTCCCACTTTAGGGGCCAGAGGAAGCCCCATCAGCCTGAGTCCATGGCACTGCCATTCTGCTTACCACTTTAAGCAGGGCCAGATTTACGAGTGTGCAACCTATGCAGCTGTATAGGGCCCTGTGCCTACAAGGGCCTCATGCTTGTTTTAATGCTCTGCCATCACTGTCTTGACATTCTTAGTAATCTTTGAACAAGGGAGCTGACATTTTCATTTTGCACTGGGCCCCCAAATGACATGACTGGTTCTGACTTTATAGTTCTCAGAAATGGCATAGGGTTCACCATCCTGGCACAGCCCTGGATGGGACGGGAAGTTTAATGAAGGACCTGGGAGGCTTCTGGCTGCCAGGTGCTGCCTACAGGTGAGGGGGACACTCCCACCCCTGAACTCCACACTTGCCATTCAGGTCCCCAGGATTGTCTTACAGGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTTTTAATGGAGGTGGAGCAGCTTTCTGAATGCATGGAGATCAGAGCTGGACTGGGATACGCTTAGGCTTGCTCCTTCTTTGCCTTAATCACTGTGTCCTCTCTCCTTCAGAGAATGTGTGGAGTGTAAGAAGTTTGACCGGGGAGCCCTACATGACGAAAATACCTGCAACCGTTACTGCCGTGACGAGATTGAGTCAGTGAAAGAGCTTAGTAAGTTCAGCACATCTTAGAGTTGCACACACCCAGGTTCTAAATGTTTCTAATTCAATCCCAGAACCTATCCAACTCCCACCTGTAAAATGGAAGCGTGACTTCTACCTCAGGGAATGTTGTGCAGGCTTGAGGAACAATGGACACTTGATGTGAGCTGGTGTCTCTGAGAGTTGTCCTCCTCTCTTACTAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCAAGATTTTGCTTAAAGCTTTGCAGTTTGGAGGGAAACCTTCAACCTTATGGATAGGCAACCAAAAGCTTTATCTGAAGTCCTTCTGCCTCTCTGGGGCCCCTTTTGAAATAAGACAGACAGAAATACAAACAATAGGGAGAAAAAAAATCTTGCCTGCAATTATTCTTGAAGTATTCTCTGTCCTTCATCTTAACTTAAAAGGAGATGATCTTTGCTGCTGTCATCACATCTGATATAGTTATGTGGGCCAGCGAGGCATTGAGATGGTACTCTAGTACTAGAGAGATGGCAATCTCTCCATAGATAGCAATCTCCCATGAAGGCAGAAACACATTTCAGAGAGAGCCACAGTAA
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Task1_train_24848
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A variant found in Chromosome 17 affects ITGB3 (integrin subunit beta 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Glanzmann thrombasthenia 2
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GAAAGTTACTTAACCTCTCTGACCTCAAAGGGTTGTTATAACAAATGAAAAGGATAACATACTAAAGAACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAGCCCACAAGCCTAGGCAATATAACAAGACTCCCATCTGTACAAAAACAAAAATAATTAGCCAGCTGCAGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAAGATCACTTGAGCCCAGGAGTTTGAAGTTACAGTGAGCAATGATTGCACCACTGCACTGTAGCCTGGGTGATAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGCAAATAAATAAAAAGAAAAAGAACTTGGCACAGTACTTGACACATATTAAATGCCTCCTTGGTTGGTTTGGAAAGTAGATACACATTCTCTTCTCTAAATGCTTTCCAAGTCTGTTCCACTGCACTCCCAGATATGATATGATGAGGTCAGATTGAGAAGGGAACCAGGTCAAGAAAGACAGGTTGTGTTGGTGAACTTGAACTGCGCCTGTAACTTTAAATAATTAATTAATTAAAAAAATGTTGAATTGTGGCAAACATTTCTCCACCTGTTGAGTGCAGAGGCAGGAACCAGGATGAGTCAACAGGGGCATGGGGGAGGCCATCGGGCTACGTGAGGTCATTACTAGTGATTGTCTCTACTGCTGTTCACCTTAGGAAAATCTCTCTTTTTTTCATTTAATTTCTCTTATTTTCTGACTTCTTTTCTCTATGGCATTCATGGGATTTGTTTAACTGCACTGGCCCTCGGCAGTCTGGGAGGTAGGGGATATTTGTTCTCTCTGCTTACTTGGCTCCGTTGGCCAACTCCATGGGTTCTCAGTGCCGTCCCTCTGCCCCTTGGATGCCCCACCCCATCTACCCATACATTCAGGGTGCTCTGTGTGCACTTTCCCTCTCTGCATTTGGAATAACCCCATGCCCTGGATCTCTCCTTTCCTTCTTTCCCTATGCTACAATTTTCCTGTCTTGTGCATGTGCCCTCAGAGCCCTGCTTCTCATCCTGCAAGGTAACACCTAGCTGATTTGAGAAATGGAAGTGGTGGCTGCTTTGTTAGTGGGACGGGACCAGCTCTTCCAAACTGGACCCTATGTTGTTGTCTAACCCAACTGGGTGGCCACGATGACGACAATGGTAGTAGGCCTCTCAGGTCAGGTAGGAGAGGCGAGCAGCGCTGTGTCAGGTCAAAGGGAGAGAGTTTTGGGGCCTGTGAGGCCTTTTGCCATCATCAAGTCACACCGTCAAGGCTACTGAGTGCCCTGTGTAGGTTCAGGGCTGTGGCTTTGTGCTGTGTCAGCCAAACTAGAAGGGCTAAAGAGCTTGCTTCTAGTTCTTAGACTAGAAGGAACTAAGTCTTCTAAGCCTCCTACCCTTTCTCTTGCCTTTCTCAGAAGGCAGAGGTATTCAGAAAAGGGCAAGAGAGAGGGCAAGAGGCCCAGGAGACTTAGTTCCTGAGAATCTTTTGCTCTACAGTGGCTCCGAGCAAGTCCTGCCATACCTTGGGACCCCTAGAAAACTGAGTTTGTCCCTGCTGGGTAGGACTCCCCTGGGTGGTGAGCCAATTCCCTGCCAACCTGGAGGATCATTATCTGTGTGGTTGGGAGAGCAGGATGGTCGTGTGTAGCCTGCTGCCATGGGAGTGGAGCTCTCGCCAGCGGGTCCACCTTCCTGGGCTGTGTGTTTTCAGGCCATGGCCAGTGCAGCTGTGGGGACTGCCTGTGTGACTCCGACTGGACCGGCTACTACTGCAACTGTACCACGCGTACTGACACCTGCATGTCCAGCAATGGGCTGCTGTGCAGCGGCCGCGGCAAGTGTGAATGTGGCAGCTGTGTCTGTATCCAGCCGGGCTCCTATGGGGACACCTGTGAGAAGTGCCCCACCTGCCCAGATGCCTGCACCTTTAAGAAGTGAGTGTGGAGTCTGGAGAGAGCCGGGAGGCTGGGAGGTAGGAGAGGATCCCCTGACTAGAATCCCCAGCTCTCCAGGTGTGTTTCTTGCTCACCAGAGCCTTAGGGAGAGGAGTCCACTCCAGCCAGATGGCTGTCTCTCCTTTTGCCAAAGGCTTTGGGCAAGTTGGAATAGAGCCAACTGTGAAGGAGCCAAAGTTGAACGAGCTGGACTTCGATTGAGAATGTCCTCTCCTAGGGTGACATCCTGACTCCCTCTGAGCTGGGAGGAAGGCTAAACCAGTCTGAGGAACAATCCAGTGCTAATGTTCTGATTCAGTGGGAGATGTGAGGGCTGGAATTATGGAGGACACTCTGTGAAACTACTACAAACCTCCCACTTTAGGGGCCAGAGGAAGCCCCATCAGCCTGAGTCCATGGCACTGCCATTCTGCTTACCACTTTAAGCAGGGCCAGATTTACGAGTGTGCAACCTATGCAGCTGTATAGGGCCCTGTGCCTACAAGGGCCTCATGCTTGTTTTAATGCTCTGCCATCACTGTCTTGACATTCTTAGTAATCTTTGAACAAGGGAGCTGACATTTTCATTTTGCACTGGGCCCCCAAATGACATGACTGGTTCTGACTTTATAGTTCTCAGAAATGGCATAGGGTTCACCATCCTGGCACAGCCCTGGATGGGACGGGAAGTTTAATGAAGGACCTGGGAGGCTTCTGGCTGCCAGGTGCTGCCTACAGGTGAGGGGGACACTCCCACCCCTGAACTCCACACTTGCCATTCAGGTCCCCAGGATTGTCTTACAGGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTTTTAATGGAGGTGGAGCAGCTTTCTGAATGCATGGAGATCAGAGCTGGACTGGGATACGCTTAGGCTTGCTCCTTCTTTGCCTTAATCACTGTGTCCTCTCTCCTTCAGAGAATGTGTGGAGTGTAAGAAGTTTGACCGGGGAGCCCTACATGACGAAAATACCTGCAACCGTTACTGCCGTGACGAGATTGAGTCAGTGAAAGAGCTTAGTAAGTTCAGCACATCTTAGAGTTGCACACACCCAGGTTCTAAATGTTTCTAATTCAATCCCAGAACCTATCCAACTCCCACCTGTAAAATGGAAGCGTGACTTCTACCTCAGGGAATGTTGTGCAGGCTTGAGGAACAATGGACACTTGATGTGAGCTGGTGTCTCTGAGAGTTGTCCTCCTCTCTTACTAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCAAGATTTTGCTTAAAGCTTTGCAGTTTGGAGGGAAACCTTCAACCTTATGGATAGGCAACCAAAAGCTTTATCTGAAGTCCTTCTGCCTCTCTGGGGCCCCTTTTGAAATAAGACAGACAGAAATACAAACAATAGGGAGAAAAAAAATCTTGCCTGCAATTATTCTTGAAGTATTCTCTGTCCTTCATCTTAACTTAAAAGGAGATGATCTTTGCTGCTGTCATCACATCTGATATAGTTATGTGGGCCAGCGAGGCATTGAGATGGTACTCTAGTACTAGAGAGATGGCAATCTCTCCATAGATAGCAATCTCCCATGAAGGCAGAAACACATTTCAGAGAGAGCCACAGTAAGACACAGCCAGCCAGTCAGCTTCCTG
|
GAAAGTTACTTAACCTCTCTGACCTCAAAGGGTTGTTATAACAAATGAAAAGGATAACATACTAAAGAACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAGCCCACAAGCCTAGGCAATATAACAAGACTCCCATCTGTACAAAAACAAAAATAATTAGCCAGCTGCAGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAAGATCACTTGAGCCCAGGAGTTTGAAGTTACAGTGAGCAATGATTGCACCACTGCACTGTAGCCTGGGTGATAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGCAAATAAATAAAAAGAAAAAGAACTTGGCACAGTACTTGACACATATTAAATGCCTCCTTGGTTGGTTTGGAAAGTAGATACACATTCTCTTCTCTAAATGCTTTCCAAGTCTGTTCCACTGCACTCCCAGATATGATATGATGAGGTCAGATTGAGAAGGGAACCAGGTCAAGAAAGACAGGTTGTGTTGGTGAACTTGAACTGCGCCTGTAACTTTAAATAATTAATTAATTAAAAAAATGTTGAATTGTGGCAAACATTTCTCCACCTGTTGAGTGCAGAGGCAGGAACCAGGATGAGTCAACAGGGGCATGGGGGAGGCCATCGGGCTACGTGAGGTCATTACTAGTGATTGTCTCTACTGCTGTTCACCTTAGGAAAATCTCTCTTTTTTTCATTTAATTTCTCTTATTTTCTGACTTCTTTTCTCTATGGCATTCATGGGATTTGTTTAACTGCACTGGCCCTCGGCAGTCTGGGAGGTAGGGGATATTTGTTCTCTCTGCTTACTTGGCTCCGTTGGCCAACTCCATGGGTTCTCAGTGCCGTCCCTCTGCCCCTTGGATGCCCCACCCCATCTACCCATACATTCAGGGTGCTCTGTGTGCACTTTCCCTCTCTGCATTTGGAATAACCCCATGCCCTGGATCTCTCCTTTCCTTCTTTCCCTATGCTACAATTTTCCTGTCTTGTGCATGTGCCCTCAGAGCCCTGCTTCTCATCCTGCAAGGTAACACCTAGCTGATTTGAGAAATGGAAGTGGTGGCTGCTTTGTTAGTGGGACGGGACCAGCTCTTCCAAACTGGACCCTATGTTGTTGTCTAACCCAACTGGGTGGCCACGATGACGACAATGGTAGTAGGCCTCTCAGGTCAGGTAGGAGAGGCGAGCAGCGCTGTGTCAGGTCAAAGGGAGAGAGTTTTGGGGCCTGTGAGGCCTTTTGCCATCATCAAGTCACACCGTCAAGGCTACTGAGTGCCCTGTGTAGGTTCAGGGCTGTGGCTTTGTGCTGTGTCAGCCAAACTAGAAGGGCTAAAGAGCTTGCTTCTAGTTCTTAGACTAGAAGGAACTAAGTCTTCTAAGCCTCCTACCCTTTCTCTTGCCTTTCTCAGAAGGCAGAGGTATTCAGAAAAGGGCAAGAGAGAGGGCAAGAGGCCCAGGAGACTTAGTTCCTGAGAATCTTTTGCTCTACAGTGGCTCCGAGCAAGTCCTGCCATACCTTGGGACCCCTAGAAAACTGAGTTTGTCCCTGCTGGGTAGGACTCCCCTGGGTGGTGAGCCAATTCCCTGCCAACCTGGAGGATCATTATCTGTGTGGTTGGGAGAGCAGGATGGTCGTGTGTAGCCTGCTGCCATGGGAGTGGAGCTCTCGCCAGCGGGTCCACCTTCCTGGGCTGTGTGTTTTCAGGCCATGGCCAGTGCAGCTGTGGGGACTGCCTGCGTGACTCCGACTGGACCGGCTACTACTGCAACTGTACCACGCGTACTGACACCTGCATGTCCAGCAATGGGCTGCTGTGCAGCGGCCGCGGCAAGTGTGAATGTGGCAGCTGTGTCTGTATCCAGCCGGGCTCCTATGGGGACACCTGTGAGAAGTGCCCCACCTGCCCAGATGCCTGCACCTTTAAGAAGTGAGTGTGGAGTCTGGAGAGAGCCGGGAGGCTGGGAGGTAGGAGAGGATCCCCTGACTAGAATCCCCAGCTCTCCAGGTGTGTTTCTTGCTCACCAGAGCCTTAGGGAGAGGAGTCCACTCCAGCCAGATGGCTGTCTCTCCTTTTGCCAAAGGCTTTGGGCAAGTTGGAATAGAGCCAACTGTGAAGGAGCCAAAGTTGAACGAGCTGGACTTCGATTGAGAATGTCCTCTCCTAGGGTGACATCCTGACTCCCTCTGAGCTGGGAGGAAGGCTAAACCAGTCTGAGGAACAATCCAGTGCTAATGTTCTGATTCAGTGGGAGATGTGAGGGCTGGAATTATGGAGGACACTCTGTGAAACTACTACAAACCTCCCACTTTAGGGGCCAGAGGAAGCCCCATCAGCCTGAGTCCATGGCACTGCCATTCTGCTTACCACTTTAAGCAGGGCCAGATTTACGAGTGTGCAACCTATGCAGCTGTATAGGGCCCTGTGCCTACAAGGGCCTCATGCTTGTTTTAATGCTCTGCCATCACTGTCTTGACATTCTTAGTAATCTTTGAACAAGGGAGCTGACATTTTCATTTTGCACTGGGCCCCCAAATGACATGACTGGTTCTGACTTTATAGTTCTCAGAAATGGCATAGGGTTCACCATCCTGGCACAGCCCTGGATGGGACGGGAAGTTTAATGAAGGACCTGGGAGGCTTCTGGCTGCCAGGTGCTGCCTACAGGTGAGGGGGACACTCCCACCCCTGAACTCCACACTTGCCATTCAGGTCCCCAGGATTGTCTTACAGGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTTTTAATGGAGGTGGAGCAGCTTTCTGAATGCATGGAGATCAGAGCTGGACTGGGATACGCTTAGGCTTGCTCCTTCTTTGCCTTAATCACTGTGTCCTCTCTCCTTCAGAGAATGTGTGGAGTGTAAGAAGTTTGACCGGGGAGCCCTACATGACGAAAATACCTGCAACCGTTACTGCCGTGACGAGATTGAGTCAGTGAAAGAGCTTAGTAAGTTCAGCACATCTTAGAGTTGCACACACCCAGGTTCTAAATGTTTCTAATTCAATCCCAGAACCTATCCAACTCCCACCTGTAAAATGGAAGCGTGACTTCTACCTCAGGGAATGTTGTGCAGGCTTGAGGAACAATGGACACTTGATGTGAGCTGGTGTCTCTGAGAGTTGTCCTCCTCTCTTACTAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCAAGATTTTGCTTAAAGCTTTGCAGTTTGGAGGGAAACCTTCAACCTTATGGATAGGCAACCAAAAGCTTTATCTGAAGTCCTTCTGCCTCTCTGGGGCCCCTTTTGAAATAAGACAGACAGAAATACAAACAATAGGGAGAAAAAAAATCTTGCCTGCAATTATTCTTGAAGTATTCTCTGTCCTTCATCTTAACTTAAAAGGAGATGATCTTTGCTGCTGTCATCACATCTGATATAGTTATGTGGGCCAGCGAGGCATTGAGATGGTACTCTAGTACTAGAGAGATGGCAATCTCTCCATAGATAGCAATCTCCCATGAAGGCAGAAACACATTTCAGAGAGAGCCACAGTAAGACACAGCCAGCCAGTCAGCTTCCTG
|
Task1_train_24849
|
A mutation found in ITGB3 (integrin subunit beta 3) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Glanzmann thrombasthenia
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GGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAGCCCACAAGCCTAGGCAATATAACAAGACTCCCATCTGTACAAAAACAAAAATAATTAGCCAGCTGCAGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAAGATCACTTGAGCCCAGGAGTTTGAAGTTACAGTGAGCAATGATTGCACCACTGCACTGTAGCCTGGGTGATAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGCAAATAAATAAAAAGAAAAAGAACTTGGCACAGTACTTGACACATATTAAATGCCTCCTTGGTTGGTTTGGAAAGTAGATACACATTCTCTTCTCTAAATGCTTTCCAAGTCTGTTCCACTGCACTCCCAGATATGATATGATGAGGTCAGATTGAGAAGGGAACCAGGTCAAGAAAGACAGGTTGTGTTGGTGAACTTGAACTGCGCCTGTAACTTTAAATAATTAATTAATTAAAAAAATGTTGAATTGTGGCAAACATTTCTCCACCTGTTGAGTGCAGAGGCAGGAACCAGGATGAGTCAACAGGGGCATGGGGGAGGCCATCGGGCTACGTGAGGTCATTACTAGTGATTGTCTCTACTGCTGTTCACCTTAGGAAAATCTCTCTTTTTTTCATTTAATTTCTCTTATTTTCTGACTTCTTTTCTCTATGGCATTCATGGGATTTGTTTAACTGCACTGGCCCTCGGCAGTCTGGGAGGTAGGGGATATTTGTTCTCTCTGCTTACTTGGCTCCGTTGGCCAACTCCATGGGTTCTCAGTGCCGTCCCTCTGCCCCTTGGATGCCCCACCCCATCTACCCATACATTCAGGGTGCTCTGTGTGCACTTTCCCTCTCTGCATTTGGAATAACCCCATGCCCTGGATCTCTCCTTTCCTTCTTTCCCTATGCTACAATTTTCCTGTCTTGTGCATGTGCCCTCAGAGCCCTGCTTCTCATCCTGCAAGGTAACACCTAGCTGATTTGAGAAATGGAAGTGGTGGCTGCTTTGTTAGTGGGACGGGACCAGCTCTTCCAAACTGGACCCTATGTTGTTGTCTAACCCAACTGGGTGGCCACGATGACGACAATGGTAGTAGGCCTCTCAGGTCAGGTAGGAGAGGCGAGCAGCGCTGTGTCAGGTCAAAGGGAGAGAGTTTTGGGGCCTGTGAGGCCTTTTGCCATCATCAAGTCACACCGTCAAGGCTACTGAGTGCCCTGTGTAGGTTCAGGGCTGTGGCTTTGTGCTGTGTCAGCCAAACTAGAAGGGCTAAAGAGCTTGCTTCTAGTTCTTAGACTAGAAGGAACTAAGTCTTCTAAGCCTCCTACCCTTTCTCTTGCCTTTCTCAGAAGGCAGAGGTATTCAGAAAAGGGCAAGAGAGAGGGCAAGAGGCCCAGGAGACTTAGTTCCTGAGAATCTTTTGCTCTACAGTGGCTCCGAGCAAGTCCTGCCATACCTTGGGACCCCTAGAAAACTGAGTTTGTCCCTGCTGGGTAGGACTCCCCTGGGTGGTGAGCCAATTCCCTGCCAACCTGGAGGATCATTATCTGTGTGGTTGGGAGAGCAGGATGGTCGTGTGTAGCCTGCTGCCATGGGAGTGGAGCTCTCGCCAGCGGGTCCACCTTCCTGGGCTGTGTGTTTTCAGGCCATGGCCAGTGCAGCTGTGGGGACTGCCTGTGTGACTCCGACTGGACCGGCTACTACTGCAACTGTACCACGCGTACTGACACCTGCATGTCCAGCAATGGGCTGCTGTGCAGCGGCCGCGGCAAGTGTGAATGTGGCAGCTGTGTCTGTATCCAGCCGGGCTCCTATGGGGACACCTGTGAGAAGTGCCCCACCTGCCCAGATGCCTGCACCTTTAAGAAGTGAGTGTGGAGTCTGGAGAGAGCCGGGAGGCTGGGAGGTAGGAGAGGATCCCCTGACTAGAATCCCCAGCTCTCCAGGTGTGTTTCTTGCTCACCAGAGCCTTAGGGAGAGGAGTCCACTCCAGCCAGATGGCTGTCTCTCCTTTTGCCAAAGGCTTTGGGCAAGTTGGAATAGAGCCAACTGTGAAGGAGCCAAAGTTGAACGAGCTGGACTTCGATTGAGAATGTCCTCTCCTAGGGTGACATCCTGACTCCCTCTGAGCTGGGAGGAAGGCTAAACCAGTCTGAGGAACAATCCAGTGCTAATGTTCTGATTCAGTGGGAGATGTGAGGGCTGGAATTATGGAGGACACTCTGTGAAACTACTACAAACCTCCCACTTTAGGGGCCAGAGGAAGCCCCATCAGCCTGAGTCCATGGCACTGCCATTCTGCTTACCACTTTAAGCAGGGCCAGATTTACGAGTGTGCAACCTATGCAGCTGTATAGGGCCCTGTGCCTACAAGGGCCTCATGCTTGTTTTAATGCTCTGCCATCACTGTCTTGACATTCTTAGTAATCTTTGAACAAGGGAGCTGACATTTTCATTTTGCACTGGGCCCCCAAATGACATGACTGGTTCTGACTTTATAGTTCTCAGAAATGGCATAGGGTTCACCATCCTGGCACAGCCCTGGATGGGACGGGAAGTTTAATGAAGGACCTGGGAGGCTTCTGGCTGCCAGGTGCTGCCTACAGGTGAGGGGGACACTCCCACCCCTGAACTCCACACTTGCCATTCAGGTCCCCAGGATTGTCTTACAGGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTTTTAATGGAGGTGGAGCAGCTTTCTGAATGCATGGAGATCAGAGCTGGACTGGGATACGCTTAGGCTTGCTCCTTCTTTGCCTTAATCACTGTGTCCTCTCTCCTTCAGAGAATGTGTGGAGTGTAAGAAGTTTGACCGGGGAGCCCTACATGACGAAAATACCTGCAACCGTTACTGCCGTGACGAGATTGAGTCAGTGAAAGAGCTTAGTAAGTTCAGCACATCTTAGAGTTGCACACACCCAGGTTCTAAATGTTTCTAATTCAATCCCAGAACCTATCCAACTCCCACCTGTAAAATGGAAGCGTGACTTCTACCTCAGGGAATGTTGTGCAGGCTTGAGGAACAATGGACACTTGATGTGAGCTGGTGTCTCTGAGAGTTGTCCTCCTCTCTTACTAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCAAGATTTTGCTTAAAGCTTTGCAGTTTGGAGGGAAACCTTCAACCTTATGGATAGGCAACCAAAAGCTTTATCTGAAGTCCTTCTGCCTCTCTGGGGCCCCTTTTGAAATAAGACAGACAGAAATACAAACAATAGGGAGAAAAAAAATCTTGCCTGCAATTATTCTTGAAGTATTCTCTGTCCTTCATCTTAACTTAAAAGGAGATGATCTTTGCTGCTGTCATCACATCTGATATAGTTATGTGGGCCAGCGAGGCATTGAGATGGTACTCTAGTACTAGAGAGATGGCAATCTCTCCATAGATAGCAATCTCCCATGAAGGCAGAAACACATTTCAGAGAGAGCCACAGTAAGACACAGCCAGCCAGTCAGCTTCCTGGTGGGCGTGTTATAGAAAAGAGTCAGCTCTCTGGGCCTTTTGGCTAATATCAGAAGTAGGGCTGGGGTGAGGTTAGCG
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GGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAGCCCACAAGCCTAGGCAATATAACAAGACTCCCATCTGTACAAAAACAAAAATAATTAGCCAGCTGCAGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAAGATCACTTGAGCCCAGGAGTTTGAAGTTACAGTGAGCAATGATTGCACCACTGCACTGTAGCCTGGGTGATAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGCAAATAAATAAAAAGAAAAAGAACTTGGCACAGTACTTGACACATATTAAATGCCTCCTTGGTTGGTTTGGAAAGTAGATACACATTCTCTTCTCTAAATGCTTTCCAAGTCTGTTCCACTGCACTCCCAGATATGATATGATGAGGTCAGATTGAGAAGGGAACCAGGTCAAGAAAGACAGGTTGTGTTGGTGAACTTGAACTGCGCCTGTAACTTTAAATAATTAATTAATTAAAAAAATGTTGAATTGTGGCAAACATTTCTCCACCTGTTGAGTGCAGAGGCAGGAACCAGGATGAGTCAACAGGGGCATGGGGGAGGCCATCGGGCTACGTGAGGTCATTACTAGTGATTGTCTCTACTGCTGTTCACCTTAGGAAAATCTCTCTTTTTTTCATTTAATTTCTCTTATTTTCTGACTTCTTTTCTCTATGGCATTCATGGGATTTGTTTAACTGCACTGGCCCTCGGCAGTCTGGGAGGTAGGGGATATTTGTTCTCTCTGCTTACTTGGCTCCGTTGGCCAACTCCATGGGTTCTCAGTGCCGTCCCTCTGCCCCTTGGATGCCCCACCCCATCTACCCATACATTCAGGGTGCTCTGTGTGCACTTTCCCTCTCTGCATTTGGAATAACCCCATGCCCTGGATCTCTCCTTTCCTTCTTTCCCTATGCTACAATTTTCCTGTCTTGTGCATGTGCCCTCAGAGCCCTGCTTCTCATCCTGCAAGGTAACACCTAGCTGATTTGAGAAATGGAAGTGGTGGCTGCTTTGTTAGTGGGACGGGACCAGCTCTTCCAAACTGGACCCTATGTTGTTGTCTAACCCAACTGGGTGGCCACGATGACGACAATGGTAGTAGGCCTCTCAGGTCAGGTAGGAGAGGCGAGCAGCGCTGTGTCAGGTCAAAGGGAGAGAGTTTTGGGGCCTGTGAGGCCTTTTGCCATCATCAAGTCACACCGTCAAGGCTACTGAGTGCCCTGTGTAGGTTCAGGGCTGTGGCTTTGTGCTGTGTCAGCCAAACTAGAAGGGCTAAAGAGCTTGCTTCTAGTTCTTAGACTAGAAGGAACTAAGTCTTCTAAGCCTCCTACCCTTTCTCTTGCCTTTCTCAGAAGGCAGAGGTATTCAGAAAAGGGCAAGAGAGAGGGCAAGAGGCCCAGGAGACTTAGTTCCTGAGAATCTTTTGCTCTACAGTGGCTCCGAGCAAGTCCTGCCATACCTTGGGACCCCTAGAAAACTGAGTTTGTCCCTGCTGGGTAGGACTCCCCTGGGTGGTGAGCCAATTCCCTGCCAACCTGGAGGATCATTATCTGTGTGGTTGGGAGAGCAGGATGGTCGTGTGTAGCCTGCTGCCATGGGAGTGGAGCTCTCGCCAGCGGGTCCACCTTCCTGGGCTGTGTGTTTTCAGGCCATGGCCAGTGCAGCTGTGGGGACTGCCTGTGTGACTCCGACTGGACCGGCTACTACTGCAACTGTACCACGCGTACTGACACCTGCATGTCCAGCAATGGGCTGCTGCGCAGCGGCCGCGGCAAGTGTGAATGTGGCAGCTGTGTCTGTATCCAGCCGGGCTCCTATGGGGACACCTGTGAGAAGTGCCCCACCTGCCCAGATGCCTGCACCTTTAAGAAGTGAGTGTGGAGTCTGGAGAGAGCCGGGAGGCTGGGAGGTAGGAGAGGATCCCCTGACTAGAATCCCCAGCTCTCCAGGTGTGTTTCTTGCTCACCAGAGCCTTAGGGAGAGGAGTCCACTCCAGCCAGATGGCTGTCTCTCCTTTTGCCAAAGGCTTTGGGCAAGTTGGAATAGAGCCAACTGTGAAGGAGCCAAAGTTGAACGAGCTGGACTTCGATTGAGAATGTCCTCTCCTAGGGTGACATCCTGACTCCCTCTGAGCTGGGAGGAAGGCTAAACCAGTCTGAGGAACAATCCAGTGCTAATGTTCTGATTCAGTGGGAGATGTGAGGGCTGGAATTATGGAGGACACTCTGTGAAACTACTACAAACCTCCCACTTTAGGGGCCAGAGGAAGCCCCATCAGCCTGAGTCCATGGCACTGCCATTCTGCTTACCACTTTAAGCAGGGCCAGATTTACGAGTGTGCAACCTATGCAGCTGTATAGGGCCCTGTGCCTACAAGGGCCTCATGCTTGTTTTAATGCTCTGCCATCACTGTCTTGACATTCTTAGTAATCTTTGAACAAGGGAGCTGACATTTTCATTTTGCACTGGGCCCCCAAATGACATGACTGGTTCTGACTTTATAGTTCTCAGAAATGGCATAGGGTTCACCATCCTGGCACAGCCCTGGATGGGACGGGAAGTTTAATGAAGGACCTGGGAGGCTTCTGGCTGCCAGGTGCTGCCTACAGGTGAGGGGGACACTCCCACCCCTGAACTCCACACTTGCCATTCAGGTCCCCAGGATTGTCTTACAGGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTTTTAATGGAGGTGGAGCAGCTTTCTGAATGCATGGAGATCAGAGCTGGACTGGGATACGCTTAGGCTTGCTCCTTCTTTGCCTTAATCACTGTGTCCTCTCTCCTTCAGAGAATGTGTGGAGTGTAAGAAGTTTGACCGGGGAGCCCTACATGACGAAAATACCTGCAACCGTTACTGCCGTGACGAGATTGAGTCAGTGAAAGAGCTTAGTAAGTTCAGCACATCTTAGAGTTGCACACACCCAGGTTCTAAATGTTTCTAATTCAATCCCAGAACCTATCCAACTCCCACCTGTAAAATGGAAGCGTGACTTCTACCTCAGGGAATGTTGTGCAGGCTTGAGGAACAATGGACACTTGATGTGAGCTGGTGTCTCTGAGAGTTGTCCTCCTCTCTTACTAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCAAGATTTTGCTTAAAGCTTTGCAGTTTGGAGGGAAACCTTCAACCTTATGGATAGGCAACCAAAAGCTTTATCTGAAGTCCTTCTGCCTCTCTGGGGCCCCTTTTGAAATAAGACAGACAGAAATACAAACAATAGGGAGAAAAAAAATCTTGCCTGCAATTATTCTTGAAGTATTCTCTGTCCTTCATCTTAACTTAAAAGGAGATGATCTTTGCTGCTGTCATCACATCTGATATAGTTATGTGGGCCAGCGAGGCATTGAGATGGTACTCTAGTACTAGAGAGATGGCAATCTCTCCATAGATAGCAATCTCCCATGAAGGCAGAAACACATTTCAGAGAGAGCCACAGTAAGACACAGCCAGCCAGTCAGCTTCCTGGTGGGCGTGTTATAGAAAAGAGTCAGCTCTCTGGGCCTTTTGGCTAATATCAGAAGTAGGGCTGGGGTGAGGTTAGCG
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Task1_train_24850
|
The gene ITGB3 (integrin subunit beta 3) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Glanzmann thrombasthenia
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GAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAGCCCACAAGCCTAGGCAATATAACAAGACTCCCATCTGTACAAAAACAAAAATAATTAGCCAGCTGCAGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAAGATCACTTGAGCCCAGGAGTTTGAAGTTACAGTGAGCAATGATTGCACCACTGCACTGTAGCCTGGGTGATAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGCAAATAAATAAAAAGAAAAAGAACTTGGCACAGTACTTGACACATATTAAATGCCTCCTTGGTTGGTTTGGAAAGTAGATACACATTCTCTTCTCTAAATGCTTTCCAAGTCTGTTCCACTGCACTCCCAGATATGATATGATGAGGTCAGATTGAGAAGGGAACCAGGTCAAGAAAGACAGGTTGTGTTGGTGAACTTGAACTGCGCCTGTAACTTTAAATAATTAATTAATTAAAAAAATGTTGAATTGTGGCAAACATTTCTCCACCTGTTGAGTGCAGAGGCAGGAACCAGGATGAGTCAACAGGGGCATGGGGGAGGCCATCGGGCTACGTGAGGTCATTACTAGTGATTGTCTCTACTGCTGTTCACCTTAGGAAAATCTCTCTTTTTTTCATTTAATTTCTCTTATTTTCTGACTTCTTTTCTCTATGGCATTCATGGGATTTGTTTAACTGCACTGGCCCTCGGCAGTCTGGGAGGTAGGGGATATTTGTTCTCTCTGCTTACTTGGCTCCGTTGGCCAACTCCATGGGTTCTCAGTGCCGTCCCTCTGCCCCTTGGATGCCCCACCCCATCTACCCATACATTCAGGGTGCTCTGTGTGCACTTTCCCTCTCTGCATTTGGAATAACCCCATGCCCTGGATCTCTCCTTTCCTTCTTTCCCTATGCTACAATTTTCCTGTCTTGTGCATGTGCCCTCAGAGCCCTGCTTCTCATCCTGCAAGGTAACACCTAGCTGATTTGAGAAATGGAAGTGGTGGCTGCTTTGTTAGTGGGACGGGACCAGCTCTTCCAAACTGGACCCTATGTTGTTGTCTAACCCAACTGGGTGGCCACGATGACGACAATGGTAGTAGGCCTCTCAGGTCAGGTAGGAGAGGCGAGCAGCGCTGTGTCAGGTCAAAGGGAGAGAGTTTTGGGGCCTGTGAGGCCTTTTGCCATCATCAAGTCACACCGTCAAGGCTACTGAGTGCCCTGTGTAGGTTCAGGGCTGTGGCTTTGTGCTGTGTCAGCCAAACTAGAAGGGCTAAAGAGCTTGCTTCTAGTTCTTAGACTAGAAGGAACTAAGTCTTCTAAGCCTCCTACCCTTTCTCTTGCCTTTCTCAGAAGGCAGAGGTATTCAGAAAAGGGCAAGAGAGAGGGCAAGAGGCCCAGGAGACTTAGTTCCTGAGAATCTTTTGCTCTACAGTGGCTCCGAGCAAGTCCTGCCATACCTTGGGACCCCTAGAAAACTGAGTTTGTCCCTGCTGGGTAGGACTCCCCTGGGTGGTGAGCCAATTCCCTGCCAACCTGGAGGATCATTATCTGTGTGGTTGGGAGAGCAGGATGGTCGTGTGTAGCCTGCTGCCATGGGAGTGGAGCTCTCGCCAGCGGGTCCACCTTCCTGGGCTGTGTGTTTTCAGGCCATGGCCAGTGCAGCTGTGGGGACTGCCTGTGTGACTCCGACTGGACCGGCTACTACTGCAACTGTACCACGCGTACTGACACCTGCATGTCCAGCAATGGGCTGCTGTGCAGCGGCCGCGGCAAGTGTGAATGTGGCAGCTGTGTCTGTATCCAGCCGGGCTCCTATGGGGACACCTGTGAGAAGTGCCCCACCTGCCCAGATGCCTGCACCTTTAAGAAGTGAGTGTGGAGTCTGGAGAGAGCCGGGAGGCTGGGAGGTAGGAGAGGATCCCCTGACTAGAATCCCCAGCTCTCCAGGTGTGTTTCTTGCTCACCAGAGCCTTAGGGAGAGGAGTCCACTCCAGCCAGATGGCTGTCTCTCCTTTTGCCAAAGGCTTTGGGCAAGTTGGAATAGAGCCAACTGTGAAGGAGCCAAAGTTGAACGAGCTGGACTTCGATTGAGAATGTCCTCTCCTAGGGTGACATCCTGACTCCCTCTGAGCTGGGAGGAAGGCTAAACCAGTCTGAGGAACAATCCAGTGCTAATGTTCTGATTCAGTGGGAGATGTGAGGGCTGGAATTATGGAGGACACTCTGTGAAACTACTACAAACCTCCCACTTTAGGGGCCAGAGGAAGCCCCATCAGCCTGAGTCCATGGCACTGCCATTCTGCTTACCACTTTAAGCAGGGCCAGATTTACGAGTGTGCAACCTATGCAGCTGTATAGGGCCCTGTGCCTACAAGGGCCTCATGCTTGTTTTAATGCTCTGCCATCACTGTCTTGACATTCTTAGTAATCTTTGAACAAGGGAGCTGACATTTTCATTTTGCACTGGGCCCCCAAATGACATGACTGGTTCTGACTTTATAGTTCTCAGAAATGGCATAGGGTTCACCATCCTGGCACAGCCCTGGATGGGACGGGAAGTTTAATGAAGGACCTGGGAGGCTTCTGGCTGCCAGGTGCTGCCTACAGGTGAGGGGGACACTCCCACCCCTGAACTCCACACTTGCCATTCAGGTCCCCAGGATTGTCTTACAGGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTTTTAATGGAGGTGGAGCAGCTTTCTGAATGCATGGAGATCAGAGCTGGACTGGGATACGCTTAGGCTTGCTCCTTCTTTGCCTTAATCACTGTGTCCTCTCTCCTTCAGAGAATGTGTGGAGTGTAAGAAGTTTGACCGGGGAGCCCTACATGACGAAAATACCTGCAACCGTTACTGCCGTGACGAGATTGAGTCAGTGAAAGAGCTTAGTAAGTTCAGCACATCTTAGAGTTGCACACACCCAGGTTCTAAATGTTTCTAATTCAATCCCAGAACCTATCCAACTCCCACCTGTAAAATGGAAGCGTGACTTCTACCTCAGGGAATGTTGTGCAGGCTTGAGGAACAATGGACACTTGATGTGAGCTGGTGTCTCTGAGAGTTGTCCTCCTCTCTTACTAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCAAGATTTTGCTTAAAGCTTTGCAGTTTGGAGGGAAACCTTCAACCTTATGGATAGGCAACCAAAAGCTTTATCTGAAGTCCTTCTGCCTCTCTGGGGCCCCTTTTGAAATAAGACAGACAGAAATACAAACAATAGGGAGAAAAAAAATCTTGCCTGCAATTATTCTTGAAGTATTCTCTGTCCTTCATCTTAACTTAAAAGGAGATGATCTTTGCTGCTGTCATCACATCTGATATAGTTATGTGGGCCAGCGAGGCATTGAGATGGTACTCTAGTACTAGAGAGATGGCAATCTCTCCATAGATAGCAATCTCCCATGAAGGCAGAAACACATTTCAGAGAGAGCCACAGTAAGACACAGCCAGCCAGTCAGCTTCCTGGTGGGCGTGTTATAGAAAAGAGTCAGCTCTCTGGGCCTTTTGGCTAATATCAGAAGTAGGGCTGGGGTGAGGTTAGCGATTTGGGGATTGAGTTTGAAGAAACAGTTTTTCCTCTGGAGGAGATTAGGCTTGCTATGATTAGTTCAGA
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GAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAGCCCACAAGCCTAGGCAATATAACAAGACTCCCATCTGTACAAAAACAAAAATAATTAGCCAGCTGCAGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAAGATCACTTGAGCCCAGGAGTTTGAAGTTACAGTGAGCAATGATTGCACCACTGCACTGTAGCCTGGGTGATAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGCAAATAAATAAAAAGAAAAAGAACTTGGCACAGTACTTGACACATATTAAATGCCTCCTTGGTTGGTTTGGAAAGTAGATACACATTCTCTTCTCTAAATGCTTTCCAAGTCTGTTCCACTGCACTCCCAGATATGATATGATGAGGTCAGATTGAGAAGGGAACCAGGTCAAGAAAGACAGGTTGTGTTGGTGAACTTGAACTGCGCCTGTAACTTTAAATAATTAATTAATTAAAAAAATGTTGAATTGTGGCAAACATTTCTCCACCTGTTGAGTGCAGAGGCAGGAACCAGGATGAGTCAACAGGGGCATGGGGGAGGCCATCGGGCTACGTGAGGTCATTACTAGTGATTGTCTCTACTGCTGTTCACCTTAGGAAAATCTCTCTTTTTTTCATTTAATTTCTCTTATTTTCTGACTTCTTTTCTCTATGGCATTCATGGGATTTGTTTAACTGCACTGGCCCTCGGCAGTCTGGGAGGTAGGGGATATTTGTTCTCTCTGCTTACTTGGCTCCGTTGGCCAACTCCATGGGTTCTCAGTGCCGTCCCTCTGCCCCTTGGATGCCCCACCCCATCTACCCATACATTCAGGGTGCTCTGTGTGCACTTTCCCTCTCTGCATTTGGAATAACCCCATGCCCTGGATCTCTCCTTTCCTTCTTTCCCTATGCTACAATTTTCCTGTCTTGTGCATGTGCCCTCAGAGCCCTGCTTCTCATCCTGCAAGGTAACACCTAGCTGATTTGAGAAATGGAAGTGGTGGCTGCTTTGTTAGTGGGACGGGACCAGCTCTTCCAAACTGGACCCTATGTTGTTGTCTAACCCAACTGGGTGGCCACGATGACGACAATGGTAGTAGGCCTCTCAGGTCAGGTAGGAGAGGCGAGCAGCGCTGTGTCAGGTCAAAGGGAGAGAGTTTTGGGGCCTGTGAGGCCTTTTGCCATCATCAAGTCACACCGTCAAGGCTACTGAGTGCCCTGTGTAGGTTCAGGGCTGTGGCTTTGTGCTGTGTCAGCCAAACTAGAAGGGCTAAAGAGCTTGCTTCTAGTTCTTAGACTAGAAGGAACTAAGTCTTCTAAGCCTCCTACCCTTTCTCTTGCCTTTCTCAGAAGGCAGAGGTATTCAGAAAAGGGCAAGAGAGAGGGCAAGAGGCCCAGGAGACTTAGTTCCTGAGAATCTTTTGCTCTACAGTGGCTCCGAGCAAGTCCTGCCATACCTTGGGACCCCTAGAAAACTGAGTTTGTCCCTGCTGGGTAGGACTCCCCTGGGTGGTGAGCCAATTCCCTGCCAACCTGGAGGATCATTATCTGTGTGGTTGGGAGAGCAGGATGGTCGTGTGTAGCCTGCTGCCATGGGAGTGGAGCTCTCGCCAGCGGGTCCACCTTCCTGGGCTGTGTGTTTTCAGGCCATGGCCAGTGCAGCTGTGGGGACTGCCTGTGTGACTCCGACTGGACCGGCTACTACTGCAACTGTACCACGCGTACTGACACCTGCATGTCCAGCAATGGGCTGCTGTGCAGCGGCCGCGGCAAGTGTGAATGTGGCAGCTGTGTCTGTATCCAGCCGGGCTCCTATGGGGACACCTATGAGAAGTGCCCCACCTGCCCAGATGCCTGCACCTTTAAGAAGTGAGTGTGGAGTCTGGAGAGAGCCGGGAGGCTGGGAGGTAGGAGAGGATCCCCTGACTAGAATCCCCAGCTCTCCAGGTGTGTTTCTTGCTCACCAGAGCCTTAGGGAGAGGAGTCCACTCCAGCCAGATGGCTGTCTCTCCTTTTGCCAAAGGCTTTGGGCAAGTTGGAATAGAGCCAACTGTGAAGGAGCCAAAGTTGAACGAGCTGGACTTCGATTGAGAATGTCCTCTCCTAGGGTGACATCCTGACTCCCTCTGAGCTGGGAGGAAGGCTAAACCAGTCTGAGGAACAATCCAGTGCTAATGTTCTGATTCAGTGGGAGATGTGAGGGCTGGAATTATGGAGGACACTCTGTGAAACTACTACAAACCTCCCACTTTAGGGGCCAGAGGAAGCCCCATCAGCCTGAGTCCATGGCACTGCCATTCTGCTTACCACTTTAAGCAGGGCCAGATTTACGAGTGTGCAACCTATGCAGCTGTATAGGGCCCTGTGCCTACAAGGGCCTCATGCTTGTTTTAATGCTCTGCCATCACTGTCTTGACATTCTTAGTAATCTTTGAACAAGGGAGCTGACATTTTCATTTTGCACTGGGCCCCCAAATGACATGACTGGTTCTGACTTTATAGTTCTCAGAAATGGCATAGGGTTCACCATCCTGGCACAGCCCTGGATGGGACGGGAAGTTTAATGAAGGACCTGGGAGGCTTCTGGCTGCCAGGTGCTGCCTACAGGTGAGGGGGACACTCCCACCCCTGAACTCCACACTTGCCATTCAGGTCCCCAGGATTGTCTTACAGGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTTTTAATGGAGGTGGAGCAGCTTTCTGAATGCATGGAGATCAGAGCTGGACTGGGATACGCTTAGGCTTGCTCCTTCTTTGCCTTAATCACTGTGTCCTCTCTCCTTCAGAGAATGTGTGGAGTGTAAGAAGTTTGACCGGGGAGCCCTACATGACGAAAATACCTGCAACCGTTACTGCCGTGACGAGATTGAGTCAGTGAAAGAGCTTAGTAAGTTCAGCACATCTTAGAGTTGCACACACCCAGGTTCTAAATGTTTCTAATTCAATCCCAGAACCTATCCAACTCCCACCTGTAAAATGGAAGCGTGACTTCTACCTCAGGGAATGTTGTGCAGGCTTGAGGAACAATGGACACTTGATGTGAGCTGGTGTCTCTGAGAGTTGTCCTCCTCTCTTACTAGTGTGTGCAGCCATCCACCACTTCTGCTTCCCAGAGCCCACAGACTCAGCAAGAGCCTGCAAAGCAAAGGGAGCAAGTGCCTCCCTAAGGAAGGGAAGAGAATGTATCCCATTTTACAGATGAAAAAACTGAGGCACAGAGCTGGGAAGTGGTTGCCTGTGATAGTCATCATCTTAGCTCAGTAGGCTAGTAAGCGTTTACCAAGTTTACTTAACTAAAAGTGTTATGCAGTGCCCAAGATTTTGCTTAAAGCTTTGCAGTTTGGAGGGAAACCTTCAACCTTATGGATAGGCAACCAAAAGCTTTATCTGAAGTCCTTCTGCCTCTCTGGGGCCCCTTTTGAAATAAGACAGACAGAAATACAAACAATAGGGAGAAAAAAAATCTTGCCTGCAATTATTCTTGAAGTATTCTCTGTCCTTCATCTTAACTTAAAAGGAGATGATCTTTGCTGCTGTCATCACATCTGATATAGTTATGTGGGCCAGCGAGGCATTGAGATGGTACTCTAGTACTAGAGAGATGGCAATCTCTCCATAGATAGCAATCTCCCATGAAGGCAGAAACACATTTCAGAGAGAGCCACAGTAAGACACAGCCAGCCAGTCAGCTTCCTGGTGGGCGTGTTATAGAAAAGAGTCAGCTCTCTGGGCCTTTTGGCTAATATCAGAAGTAGGGCTGGGGTGAGGTTAGCGATTTGGGGATTGAGTTTGAAGAAACAGTTTTTCCTCTGGAGGAGATTAGGCTTGCTATGATTAGTTCAGA
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Task1_train_24851
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Gene EFCAB13-DT, ITGB3 (EFCAB13 divergent transcript| integrin subunit beta 3) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Bleeding disorder, platelet-type, 24
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GGGAAGCAGAGCTCTGCAGAGTATACTCAGCCTGACCCCCAGAGGGGTGACATGCCTCTGTTTTAGTTGTTGACTGGGGTTGAACAGGAAGGCAGCTTTCAATAGGGTTATGATTTTAGATGACTAAGTATTTTGGGAAAGAACCCAAAATATTGTCTTGGCTGGCAGGTCCTGGTCTCTAAGAATGCAAAAAATGTCATTAGGTTCACAGCCCTCAGGAATGTAAATATCTGAACCAGGATAACAGACACAAATACTTACAGTGGCTAAGGAAGCAAATAAGTTAGTGAAAACAGCTGGGTGTAAGAAGATCCGTTACAACGGTAGCTGATATTTACTGAGCACTTACTCTGTGCCAGGCATTGTTCTGAGTTTTTAAGATATATTTAATTTAATCATTCCTCATAACAAGTTTCTTTTAAAGTCAGTGCTATTACTATCTTCATTTTAAAGATGGAGAAACAGGAAACAGACATTCAGAAAGGTTAAGTAATTTTCCAAAGATCATGTATAAAAGTTAAGTGATAAGTCAGGATTCAAACCCAGGGAGTCTGGCTGTAACATCCACAGGAGCGCAGACACACCAACAAGTCACACTGCCTTCCTCTAGGAGAGAGAAGGGAGAGTGGTGGGGATTCTGGTAAACTAGAAAACATGAGTTCCAACTAAAAGGAGCAGCTCCTCCTCAGCTCTAGCTAACTGCTGCTCTGCAGGAATATAAGAATCTCTCTCTTTCTGTATTTCTCTCTTTCTTTCTTTTGAGATAGTCTCTCCCTCTGTCATCCAGGCTGGAGAGCAGTGGCACGATCATGGCTCACTATGACCTTGACCTCCCAGGCTCAAACGATCCTCCCACCTCAGCATCCTGAGTAGCTGGGACTACAGGCATATGCCACAATGCCTGGCTAATTAAAAAAGACAATTTTGTAGAGGCAGAGCCTCACTATGTTGCCCAGGCTGGTCTTGAACTTCTGGACTCAAGCTGTCCTCCTGCCTCGGCCTCCCAAGTGCTGGCATTATAGGCATGAGCCACTGGGCCTGGCCTGGATTTTCTTTTTAAAGAGACTAATATGAAATTTTAGGGGGAGAATCTCCTGATTATTCAATATTGCCAATAAAGTCAATTTTTTATTTCTTATTCATTTATTTATTTATTTATTTATTTTGAGATGGAGTTTTGCTCTGTTACCCAGGCTGGAGTGTAATGGTGTGATCTCGGTTCACTGCAACCTCTACCTCCCAGGTTCAAGTGATTCTGTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCGCCACCATGCTAGGCTAATTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGCTCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCGGCTTTTTATTTTTAATTTTTTAAAAAACTTTTATTTTTGCTTTAGGGGTACATGTGTGGGTTTGTTCCGTAGATAAACTGTGAGTCATGGGGGTCTGGTGTACCTATTATTTCATCACCCAGGTAATAAGCATAGTGACTCATAGGTAGTTTTTCGATCCCCACCTCCTCCCCGTCTCCACCCTCAAGTAGGTCCCAGTGTCTGGTGTTCTCTTCTTTGTGTTTAATTTTTAAAATAAACACTTGGGTGAACCCCCACACAAAGGTGTGGCTGGGTTCTGTCTAGGGGTTACCAGGTCTAGACTTCTGATTTGAGCCACTCAGTGCAGATTATTGCTGTCCTAATGATTGTCTCCTTAAAAAAATTAATTTTTGAAAACTGTCCTATTTCCTTCAAGGACCTTAGTTACTTTGTCAAGAACACCTTTTTCATAGCCAGTTCAAGTGACTCCTGCTTCATTCACAACCGCCCTGCTCTGTGCTTCTTCCTCACAGAGTGTCCCAAGGGCCCTGACATCCTGGTGGTCCTGCTCTCAGTGATGGGGGCCATTCTGCTCATTGGCCTTGCCGCCCTGCTCATCTGGAAACTCCTCATCACCATCCACGACCGAAAAGAATTCGCTAAATTTGAGGAAGAACGCGCCAGAGCAAAATGGGACACAGTAAGAGACGGGGCTGGGCGTTTTCTAAAGTCATTGGTCTGAGACTCTTAAGTGGAAGCAGCAGATGCTTTGGGTGGTCATGTTCAGCCAGTACCATCGTCTTTCCATTATCCTCTGTTCTGGAAACTGGGAGAGATGGTCTCACTATCCCCTTGTCCTTCAGCTTCCTTCAGCCTCTTAGAAATAGTGGCAGGATGTCATTCCATCTCATTCTCTTCTTTCTCCTCAAATAAATGGTTACTTCCAGGCTGGGCCTGGTGGCGCGTGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACTTGAGCTCAAGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTATTAATAATATAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAAGCAGGAGGATTGCTTGAACCCAGTAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCCTGCTCTGGGTGACAGAGCAGGACTCGGTCTCAAAAATAATAATAATAATAATAATAATAATAAAATAAAATAAAAGGTTACTTCCAAATCAGACTCTACTCTTTTATCCTGATTTATTCCAATTAAATAAGCATTTACTGAGAACTTTCTATATACTTAATCTTACTCTATTCTCTTTTGGCTCTTCTTTCACATTTCAACTTTTTTCCTCGACCCTCCAAATGGCTATTTGACTCCCCAAATGTCCAGAGTTAGGCTGCAAGTTTGTTCCCATTTGATGTTGACCCCAGAGCTTTATACTCAAGGGTCCCAAGAAACTGAGATGTTTCTGTTAGAACAGTGTGGAACATCCTGTACCTATGAGGCCCACAGGAATGTGTTTCTTTCTCTTTTTTTTTGGAGACAGAGTCTTGCTCTGTCACCCAGGCTTGAGTGTAGCGATCTTGGCTCACTGCAACCTTGGCCTCTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGATTACAGGCGCCAGCCACTGTGCCCAGCTATTTTTTGTATTTTTAGTAGCGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTCCAGGCGTGAGCCACTGCGCCTGGCTAAGAATGTGTTTCTTGAAGCTACCATTATAGGATTTGTTACTTTCTGTTGGAAAATAGTTTGGGAAACCTAGTGAGGGTCTTACTTTTTCCTGATAACATGACAGTTTGTGGATAGTGCTTTCTCTTTCTCTCCCCTCCTCTCCCATTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTTCCTTTTACGCTTCCTCCCCTCCCCTTCCCTTCCTCCCCTCCTCTCCTTTTCTTTCCCTTCCCTTCCCTCCTTCCTTCTTTTTTTGAGACAGGGTCTCGCTCTGTCACCCATGCTGGAGTGCAGTGGTGCCATCATGGCTCAATGCAGCCTCCATCTCCTGGGCTCAAGTGATCCTCCCACCTCACCCTCCCAAGTAGCCAGGACTACAGGCACACATCACCGAGCCAGCTAATTTTTGTATTTTTTTCCCTTGTAGAGACAGGGTCTCACTCTGTTACCCAGGCTGGTCTAGAACTCCTGGGCTCAAGTGATCTTCCTACCTTGGCCCCTAAAAGTGCTGGGATTATAGGCATAAACCACCATGCCTGGCCATGGTTAGTGCTTGGCCAGATTAGATGAAAACAAATTAATAATTATTTGAGCAAAAGCTTTCCTCTGTGTTCTGAATTGCACCTGATACATTTCTGTCCCTTGTCCACATCTCCTATCACTGTCACAGGGAATGGAAAATAGGAGAAGGGCAAAAGAGACGGGGACACAGGGGTGAAATAGGAGAGGTTCTATCCCCGAATGCTGTGGAATCACTGAAGAGTGATAGGCTGAATATAGCTCCTTAGAAATAGTGGCAGGGAACAGGTGTGGTGGCT
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GGGAAGCAGAGCTCTGCAGAGTATACTCAGCCTGACCCCCAGAGGGGTGACATGCCTCTGTTTTAGTTGTTGACTGGGGTTGAACAGGAAGGCAGCTTTCAATAGGGTTATGATTTTAGATGACTAAGTATTTTGGGAAAGAACCCAAAATATTGTCTTGGCTGGCAGGTCCTGGTCTCTAAGAATGCAAAAAATGTCATTAGGTTCACAGCCCTCAGGAATGTAAATATCTGAACCAGGATAACAGACACAAATACTTACAGTGGCTAAGGAAGCAAATAAGTTAGTGAAAACAGCTGGGTGTAAGAAGATCCGTTACAACGGTAGCTGATATTTACTGAGCACTTACTCTGTGCCAGGCATTGTTCTGAGTTTTTAAGATATATTTAATTTAATCATTCCTCATAACAAGTTTCTTTTAAAGTCAGTGCTATTACTATCTTCATTTTAAAGATGGAGAAACAGGAAACAGACATTCAGAAAGGTTAAGTAATTTTCCAAAGATCATGTATAAAAGTTAAGTGATAAGTCAGGATTCAAACCCAGGGAGTCTGGCTGTAACATCCACAGGAGCGCAGACACACCAACAAGTCACACTGCCTTCCTCTAGGAGAGAGAAGGGAGAGTGGTGGGGATTCTGGTAAACTAGAAAACATGAGTTCCAACTAAAAGGAGCAGCTCCTCCTCAGCTCTAGCTAACTGCTGCTCTGCAGGAATATAAGAATCTCTCTCTTTCTGTATTTCTCTCTTTCTTTCTTTTGAGATAGTCTCTCCCTCTGTCATCCAGGCTGGAGAGCAGTGGCACGATCATGGCTCACTATGACCTTGACCTCCCAGGCTCAAACGATCCTCCCACCTCAGCATCCTGAGTAGCTGGGACTACAGGCATATGCCACAATGCCTGGCTAATTAAAAAAGACAATTTTGTAGAGGCAGAGCCTCACTATGTTGCCCAGGCTGGTCTTGAACTTCTGGACTCAAGCTGTCCTCCTGCCTCGGCCTCCCAAGTGCTGGCATTATAGGCATGAGCCACTGGGCCTGGCCTGGATTTTCTTTTTAAAGAGACTAATATGAAATTTTAGGGGGAGAATCTCCTGATTATTCAATATTGCCAATAAAGTCAATTTTTTATTTCTTATTCATTTATTTATTTATTTATTTATTTTGAGATGGAGTTTTGCTCTGTTACCCAGGCTGGAGTGTAATGGTGTGATCTCGGTTCACTGCAACCTCTACCTCCCAGGTTCAAGTGATTCTGTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCGCCACCATGCTAGGCTAATTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGCTCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCGGCTTTTTATTTTTAATTTTTTAAAAAACTTTTATTTTTGCTTTAGGGGTACATGTGTGGGTTTGTTCCGTAGATAAACTGTGAGTCATGGGGGTCTGGTGTACCTATTATTTCATCACCCAGGTAATAAGCATAGTGACTCATAGGTAGTTTTTCGATCCCCACCTCCTCCCCGTCTCCACCCTCAAGTAGGTCCCAGTGTCTGGTGTTCTCTTCTTTGTGTTTAATTTTTAAAATAAACACTTGGGTGAACCCCCACACAAAGGTGTGGCTGGGTTCTGTCTAGGGGTTACCAGGTCTAGACTTCTGATTTGAGCCACTCAGTGCAGATTATTGCTGTCCTAATGATTGTCTCCTTAAAAAAATTAATTTTTGAAAACTGTCCTATTTCCTTCAAGGACCTTAGTTACTTTGTCAAGAACACCTTTTTCATAGCCAGTTCAAGTGACTCCTGCTTCATTCACAACCGCCCTGCTCTGTGCTTCTTCCTCACAGAGTGTCCCAAGGGCCCTGACATCCTGGTGGTCCTGCTCTCAGTGATGGGGGCCATTCTGCTCATTGGCCTTGCCGCCCTGCTCATCTGGAAACTCCTCATCACCATCCACCACCGAAAAGAATTCGCTAAATTTGAGGAAGAACGCGCCAGAGCAAAATGGGACACAGTAAGAGACGGGGCTGGGCGTTTTCTAAAGTCATTGGTCTGAGACTCTTAAGTGGAAGCAGCAGATGCTTTGGGTGGTCATGTTCAGCCAGTACCATCGTCTTTCCATTATCCTCTGTTCTGGAAACTGGGAGAGATGGTCTCACTATCCCCTTGTCCTTCAGCTTCCTTCAGCCTCTTAGAAATAGTGGCAGGATGTCATTCCATCTCATTCTCTTCTTTCTCCTCAAATAAATGGTTACTTCCAGGCTGGGCCTGGTGGCGCGTGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACTTGAGCTCAAGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTATTAATAATATAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAAGCAGGAGGATTGCTTGAACCCAGTAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCCTGCTCTGGGTGACAGAGCAGGACTCGGTCTCAAAAATAATAATAATAATAATAATAATAATAAAATAAAATAAAAGGTTACTTCCAAATCAGACTCTACTCTTTTATCCTGATTTATTCCAATTAAATAAGCATTTACTGAGAACTTTCTATATACTTAATCTTACTCTATTCTCTTTTGGCTCTTCTTTCACATTTCAACTTTTTTCCTCGACCCTCCAAATGGCTATTTGACTCCCCAAATGTCCAGAGTTAGGCTGCAAGTTTGTTCCCATTTGATGTTGACCCCAGAGCTTTATACTCAAGGGTCCCAAGAAACTGAGATGTTTCTGTTAGAACAGTGTGGAACATCCTGTACCTATGAGGCCCACAGGAATGTGTTTCTTTCTCTTTTTTTTTGGAGACAGAGTCTTGCTCTGTCACCCAGGCTTGAGTGTAGCGATCTTGGCTCACTGCAACCTTGGCCTCTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGATTACAGGCGCCAGCCACTGTGCCCAGCTATTTTTTGTATTTTTAGTAGCGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTCCAGGCGTGAGCCACTGCGCCTGGCTAAGAATGTGTTTCTTGAAGCTACCATTATAGGATTTGTTACTTTCTGTTGGAAAATAGTTTGGGAAACCTAGTGAGGGTCTTACTTTTTCCTGATAACATGACAGTTTGTGGATAGTGCTTTCTCTTTCTCTCCCCTCCTCTCCCATTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTTCCTTTTACGCTTCCTCCCCTCCCCTTCCCTTCCTCCCCTCCTCTCCTTTTCTTTCCCTTCCCTTCCCTCCTTCCTTCTTTTTTTGAGACAGGGTCTCGCTCTGTCACCCATGCTGGAGTGCAGTGGTGCCATCATGGCTCAATGCAGCCTCCATCTCCTGGGCTCAAGTGATCCTCCCACCTCACCCTCCCAAGTAGCCAGGACTACAGGCACACATCACCGAGCCAGCTAATTTTTGTATTTTTTTCCCTTGTAGAGACAGGGTCTCACTCTGTTACCCAGGCTGGTCTAGAACTCCTGGGCTCAAGTGATCTTCCTACCTTGGCCCCTAAAAGTGCTGGGATTATAGGCATAAACCACCATGCCTGGCCATGGTTAGTGCTTGGCCAGATTAGATGAAAACAAATTAATAATTATTTGAGCAAAAGCTTTCCTCTGTGTTCTGAATTGCACCTGATACATTTCTGTCCCTTGTCCACATCTCCTATCACTGTCACAGGGAATGGAAAATAGGAGAAGGGCAAAAGAGACGGGGACACAGGGGTGAAATAGGAGAGGTTCTATCCCCGAATGCTGTGGAATCACTGAAGAGTGATAGGCTGAATATAGCTCCTTAGAAATAGTGGCAGGGAACAGGTGTGGTGGCT
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Task1_train_24852
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Here is a variant affecting EFCAB13-DT, ITGB3 (EFCAB13 divergent transcript| integrin subunit beta 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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GACCCCCAGAGGGGTGACATGCCTCTGTTTTAGTTGTTGACTGGGGTTGAACAGGAAGGCAGCTTTCAATAGGGTTATGATTTTAGATGACTAAGTATTTTGGGAAAGAACCCAAAATATTGTCTTGGCTGGCAGGTCCTGGTCTCTAAGAATGCAAAAAATGTCATTAGGTTCACAGCCCTCAGGAATGTAAATATCTGAACCAGGATAACAGACACAAATACTTACAGTGGCTAAGGAAGCAAATAAGTTAGTGAAAACAGCTGGGTGTAAGAAGATCCGTTACAACGGTAGCTGATATTTACTGAGCACTTACTCTGTGCCAGGCATTGTTCTGAGTTTTTAAGATATATTTAATTTAATCATTCCTCATAACAAGTTTCTTTTAAAGTCAGTGCTATTACTATCTTCATTTTAAAGATGGAGAAACAGGAAACAGACATTCAGAAAGGTTAAGTAATTTTCCAAAGATCATGTATAAAAGTTAAGTGATAAGTCAGGATTCAAACCCAGGGAGTCTGGCTGTAACATCCACAGGAGCGCAGACACACCAACAAGTCACACTGCCTTCCTCTAGGAGAGAGAAGGGAGAGTGGTGGGGATTCTGGTAAACTAGAAAACATGAGTTCCAACTAAAAGGAGCAGCTCCTCCTCAGCTCTAGCTAACTGCTGCTCTGCAGGAATATAAGAATCTCTCTCTTTCTGTATTTCTCTCTTTCTTTCTTTTGAGATAGTCTCTCCCTCTGTCATCCAGGCTGGAGAGCAGTGGCACGATCATGGCTCACTATGACCTTGACCTCCCAGGCTCAAACGATCCTCCCACCTCAGCATCCTGAGTAGCTGGGACTACAGGCATATGCCACAATGCCTGGCTAATTAAAAAAGACAATTTTGTAGAGGCAGAGCCTCACTATGTTGCCCAGGCTGGTCTTGAACTTCTGGACTCAAGCTGTCCTCCTGCCTCGGCCTCCCAAGTGCTGGCATTATAGGCATGAGCCACTGGGCCTGGCCTGGATTTTCTTTTTAAAGAGACTAATATGAAATTTTAGGGGGAGAATCTCCTGATTATTCAATATTGCCAATAAAGTCAATTTTTTATTTCTTATTCATTTATTTATTTATTTATTTATTTTGAGATGGAGTTTTGCTCTGTTACCCAGGCTGGAGTGTAATGGTGTGATCTCGGTTCACTGCAACCTCTACCTCCCAGGTTCAAGTGATTCTGTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCGCCACCATGCTAGGCTAATTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGCTCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCGGCTTTTTATTTTTAATTTTTTAAAAAACTTTTATTTTTGCTTTAGGGGTACATGTGTGGGTTTGTTCCGTAGATAAACTGTGAGTCATGGGGGTCTGGTGTACCTATTATTTCATCACCCAGGTAATAAGCATAGTGACTCATAGGTAGTTTTTCGATCCCCACCTCCTCCCCGTCTCCACCCTCAAGTAGGTCCCAGTGTCTGGTGTTCTCTTCTTTGTGTTTAATTTTTAAAATAAACACTTGGGTGAACCCCCACACAAAGGTGTGGCTGGGTTCTGTCTAGGGGTTACCAGGTCTAGACTTCTGATTTGAGCCACTCAGTGCAGATTATTGCTGTCCTAATGATTGTCTCCTTAAAAAAATTAATTTTTGAAAACTGTCCTATTTCCTTCAAGGACCTTAGTTACTTTGTCAAGAACACCTTTTTCATAGCCAGTTCAAGTGACTCCTGCTTCATTCACAACCGCCCTGCTCTGTGCTTCTTCCTCACAGAGTGTCCCAAGGGCCCTGACATCCTGGTGGTCCTGCTCTCAGTGATGGGGGCCATTCTGCTCATTGGCCTTGCCGCCCTGCTCATCTGGAAACTCCTCATCACCATCCACGACCGAAAAGAATTCGCTAAATTTGAGGAAGAACGCGCCAGAGCAAAATGGGACACAGTAAGAGACGGGGCTGGGCGTTTTCTAAAGTCATTGGTCTGAGACTCTTAAGTGGAAGCAGCAGATGCTTTGGGTGGTCATGTTCAGCCAGTACCATCGTCTTTCCATTATCCTCTGTTCTGGAAACTGGGAGAGATGGTCTCACTATCCCCTTGTCCTTCAGCTTCCTTCAGCCTCTTAGAAATAGTGGCAGGATGTCATTCCATCTCATTCTCTTCTTTCTCCTCAAATAAATGGTTACTTCCAGGCTGGGCCTGGTGGCGCGTGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACTTGAGCTCAAGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTATTAATAATATAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAAGCAGGAGGATTGCTTGAACCCAGTAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCCTGCTCTGGGTGACAGAGCAGGACTCGGTCTCAAAAATAATAATAATAATAATAATAATAATAAAATAAAATAAAAGGTTACTTCCAAATCAGACTCTACTCTTTTATCCTGATTTATTCCAATTAAATAAGCATTTACTGAGAACTTTCTATATACTTAATCTTACTCTATTCTCTTTTGGCTCTTCTTTCACATTTCAACTTTTTTCCTCGACCCTCCAAATGGCTATTTGACTCCCCAAATGTCCAGAGTTAGGCTGCAAGTTTGTTCCCATTTGATGTTGACCCCAGAGCTTTATACTCAAGGGTCCCAAGAAACTGAGATGTTTCTGTTAGAACAGTGTGGAACATCCTGTACCTATGAGGCCCACAGGAATGTGTTTCTTTCTCTTTTTTTTTGGAGACAGAGTCTTGCTCTGTCACCCAGGCTTGAGTGTAGCGATCTTGGCTCACTGCAACCTTGGCCTCTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGATTACAGGCGCCAGCCACTGTGCCCAGCTATTTTTTGTATTTTTAGTAGCGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTCCAGGCGTGAGCCACTGCGCCTGGCTAAGAATGTGTTTCTTGAAGCTACCATTATAGGATTTGTTACTTTCTGTTGGAAAATAGTTTGGGAAACCTAGTGAGGGTCTTACTTTTTCCTGATAACATGACAGTTTGTGGATAGTGCTTTCTCTTTCTCTCCCCTCCTCTCCCATTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTTCCTTTTACGCTTCCTCCCCTCCCCTTCCCTTCCTCCCCTCCTCTCCTTTTCTTTCCCTTCCCTTCCCTCCTTCCTTCTTTTTTTGAGACAGGGTCTCGCTCTGTCACCCATGCTGGAGTGCAGTGGTGCCATCATGGCTCAATGCAGCCTCCATCTCCTGGGCTCAAGTGATCCTCCCACCTCACCCTCCCAAGTAGCCAGGACTACAGGCACACATCACCGAGCCAGCTAATTTTTGTATTTTTTTCCCTTGTAGAGACAGGGTCTCACTCTGTTACCCAGGCTGGTCTAGAACTCCTGGGCTCAAGTGATCTTCCTACCTTGGCCCCTAAAAGTGCTGGGATTATAGGCATAAACCACCATGCCTGGCCATGGTTAGTGCTTGGCCAGATTAGATGAAAACAAATTAATAATTATTTGAGCAAAAGCTTTCCTCTGTGTTCTGAATTGCACCTGATACATTTCTGTCCCTTGTCCACATCTCCTATCACTGTCACAGGGAATGGAAAATAGGAGAAGGGCAAAAGAGACGGGGACACAGGGGTGAAATAGGAGAGGTTCTATCCCCGAATGCTGTGGAATCACTGAAGAGTGATAGGCTGAATATAGCTCCTTAGAAATAGTGGCAGGGAACAGGTGTGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGA
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GACCCCCAGAGGGGTGACATGCCTCTGTTTTAGTTGTTGACTGGGGTTGAACAGGAAGGCAGCTTTCAATAGGGTTATGATTTTAGATGACTAAGTATTTTGGGAAAGAACCCAAAATATTGTCTTGGCTGGCAGGTCCTGGTCTCTAAGAATGCAAAAAATGTCATTAGGTTCACAGCCCTCAGGAATGTAAATATCTGAACCAGGATAACAGACACAAATACTTACAGTGGCTAAGGAAGCAAATAAGTTAGTGAAAACAGCTGGGTGTAAGAAGATCCGTTACAACGGTAGCTGATATTTACTGAGCACTTACTCTGTGCCAGGCATTGTTCTGAGTTTTTAAGATATATTTAATTTAATCATTCCTCATAACAAGTTTCTTTTAAAGTCAGTGCTATTACTATCTTCATTTTAAAGATGGAGAAACAGGAAACAGACATTCAGAAAGGTTAAGTAATTTTCCAAAGATCATGTATAAAAGTTAAGTGATAAGTCAGGATTCAAACCCAGGGAGTCTGGCTGTAACATCCACAGGAGCGCAGACACACCAACAAGTCACACTGCCTTCCTCTAGGAGAGAGAAGGGAGAGTGGTGGGGATTCTGGTAAACTAGAAAACATGAGTTCCAACTAAAAGGAGCAGCTCCTCCTCAGCTCTAGCTAACTGCTGCTCTGCAGGAATATAAGAATCTCTCTCTTTCTGTATTTCTCTCTTTCTTTCTTTTGAGATAGTCTCTCCCTCTGTCATCCAGGCTGGAGAGCAGTGGCACGATCATGGCTCACTATGACCTTGACCTCCCAGGCTCAAACGATCCTCCCACCTCAGCATCCTGAGTAGCTGGGACTACAGGCATATGCCACAATGCCTGGCTAATTAAAAAAGACAATTTTGTAGAGGCAGAGCCTCACTATGTTGCCCAGGCTGGTCTTGAACTTCTGGACTCAAGCTGTCCTCCTGCCTCGGCCTCCCAAGTGCTGGCATTATAGGCATGAGCCACTGGGCCTGGCCTGGATTTTCTTTTTAAAGAGACTAATATGAAATTTTAGGGGGAGAATCTCCTGATTATTCAATATTGCCAATAAAGTCAATTTTTTATTTCTTATTCATTTATTTATTTATTTATTTATTTTGAGATGGAGTTTTGCTCTGTTACCCAGGCTGGAGTGTAATGGTGTGATCTCGGTTCACTGCAACCTCTACCTCCCAGGTTCAAGTGATTCTGTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCGCCACCATGCTAGGCTAATTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGCTCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACTCGGCTTTTTATTTTTAATTTTTTAAAAAACTTTTATTTTTGCTTTAGGGGTACATGTGTGGGTTTGTTCCGTAGATAAACTGTGAGTCATGGGGGTCTGGTGTACCTATTATTTCATCACCCAGGTAATAAGCATAGTGACTCATAGGTAGTTTTTCGATCCCCACCTCCTCCCCGTCTCCACCCTCAAGTAGGTCCCAGTGTCTGGTGTTCTCTTCTTTGTGTTTAATTTTTAAAATAAACACTTGGGTGAACCCCCACACAAAGGTGTGGCTGGGTTCTGTCTAGGGGTTACCAGGTCTAGACTTCTGATTTGAGCCACTCAGTGCAGATTATTGCTGTCCTAATGATTGTCTCCTTAAAAAAATTAATTTTTGAAAACTGTCCTATTTCCTTCAAGGACCTTAGTTACTTTGTCAAGAACACCTTTTTCATAGCCAGTTCAAGTGACTCCTGCTTCATTCACAACCGCCCTGCTCTGTGCTTCTTCCTCACAGAGTGTCCCAAGGGCCCTGACATCCTGGTGGTCCTGCTCTCAGTGATGGGGGCCATTCTGCTCATTGGCCTTGCCGCCCTGCTCATCTGGAAACTCCTCATCACCATCCACGACCGAAAAGAATTCGCTAAATTTGAGGAAGAATGCGCCAGAGCAAAATGGGACACAGTAAGAGACGGGGCTGGGCGTTTTCTAAAGTCATTGGTCTGAGACTCTTAAGTGGAAGCAGCAGATGCTTTGGGTGGTCATGTTCAGCCAGTACCATCGTCTTTCCATTATCCTCTGTTCTGGAAACTGGGAGAGATGGTCTCACTATCCCCTTGTCCTTCAGCTTCCTTCAGCCTCTTAGAAATAGTGGCAGGATGTCATTCCATCTCATTCTCTTCTTTCTCCTCAAATAAATGGTTACTTCCAGGCTGGGCCTGGTGGCGCGTGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACTTGAGCTCAAGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTATTAATAATATAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAAGCAGGAGGATTGCTTGAACCCAGTAGGTAGAGGTTGTAGTGAGCTGAGATTGCACCCTGCTCTGGGTGACAGAGCAGGACTCGGTCTCAAAAATAATAATAATAATAATAATAATAATAAAATAAAATAAAAGGTTACTTCCAAATCAGACTCTACTCTTTTATCCTGATTTATTCCAATTAAATAAGCATTTACTGAGAACTTTCTATATACTTAATCTTACTCTATTCTCTTTTGGCTCTTCTTTCACATTTCAACTTTTTTCCTCGACCCTCCAAATGGCTATTTGACTCCCCAAATGTCCAGAGTTAGGCTGCAAGTTTGTTCCCATTTGATGTTGACCCCAGAGCTTTATACTCAAGGGTCCCAAGAAACTGAGATGTTTCTGTTAGAACAGTGTGGAACATCCTGTACCTATGAGGCCCACAGGAATGTGTTTCTTTCTCTTTTTTTTTGGAGACAGAGTCTTGCTCTGTCACCCAGGCTTGAGTGTAGCGATCTTGGCTCACTGCAACCTTGGCCTCTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGATTACAGGCGCCAGCCACTGTGCCCAGCTATTTTTTGTATTTTTAGTAGCGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTCCAGGCGTGAGCCACTGCGCCTGGCTAAGAATGTGTTTCTTGAAGCTACCATTATAGGATTTGTTACTTTCTGTTGGAAAATAGTTTGGGAAACCTAGTGAGGGTCTTACTTTTTCCTGATAACATGACAGTTTGTGGATAGTGCTTTCTCTTTCTCTCCCCTCCTCTCCCATTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTTCCTTTTACGCTTCCTCCCCTCCCCTTCCCTTCCTCCCCTCCTCTCCTTTTCTTTCCCTTCCCTTCCCTCCTTCCTTCTTTTTTTGAGACAGGGTCTCGCTCTGTCACCCATGCTGGAGTGCAGTGGTGCCATCATGGCTCAATGCAGCCTCCATCTCCTGGGCTCAAGTGATCCTCCCACCTCACCCTCCCAAGTAGCCAGGACTACAGGCACACATCACCGAGCCAGCTAATTTTTGTATTTTTTTCCCTTGTAGAGACAGGGTCTCACTCTGTTACCCAGGCTGGTCTAGAACTCCTGGGCTCAAGTGATCTTCCTACCTTGGCCCCTAAAAGTGCTGGGATTATAGGCATAAACCACCATGCCTGGCCATGGTTAGTGCTTGGCCAGATTAGATGAAAACAAATTAATAATTATTTGAGCAAAAGCTTTCCTCTGTGTTCTGAATTGCACCTGATACATTTCTGTCCCTTGTCCACATCTCCTATCACTGTCACAGGGAATGGAAAATAGGAGAAGGGCAAAAGAGACGGGGACACAGGGGTGAAATAGGAGAGGTTCTATCCCCGAATGCTGTGGAATCACTGAAGAGTGATAGGCTGAATATAGCTCCTTAGAAATAGTGGCAGGGAACAGGTGTGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGA
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Task1_train_24853
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Here’s a variant in PNPO (pyridoxamine 5'-phosphate oxidase) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Inborn genetic diseases
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CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTTCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGACAACTTCAACAGGAAAGTAAATCTACTCAACTTTCTCTCAATTATGCTGATGGAGGAAAATGATGGCAGCACAAAAAAATCCAACCAGTGGAGAATCCATAGACCAATATCATTAAGCCTTGAGACATGTATTATTTCTTTGCAGCAAAATTGTCTTCCAGATTCTATCTGGCTCAAGCTATGTACACATAAAGGATGACAGGTATCTAATGTAGGGCTTCATGAAGCTCAGCTGTAATGCAGACACCTGGCCAGGCCAGGAAGTTCCCCTTACCTGGCACAGTCCTGGGTGCCTGCCTAGATGGCTCTTGCAGTTCCCCTTCCTGATGCTGGTGGAAAGCAGGGCTACAGAGAGGTCTCGACCCAAGGCCGCCCCAGCCAGCTCAGAATTGGACTGGGCATGAGTGGGTTTCCCATTTTTCAGCCTTGCATCCACAGCCTGGAAAGGCTATGCACAGCCACCTGCTCAGTGTACTCTCAGTTGGCAATTGCTTGCATTGACCTAGGGGCTAGACTCCTACTACCTAGCATGGGCAAAATGTGGAAAAAGGGAAGCTTGACAAAGATTGGGGAGACCCTGGAGAAATGGGACATTGGCAGCCTTGCTATCTACCAGGACACTGGCTCCTATGAACTCCAGTGCACCATGGCAGGGGAAACCATGAGCAAAGGGAGTAAAATGCTCTGACCCTTGCTTAAATAAATGAGGCTGGAGGGAAGGGGTTTAAAACTAGAAGAGGTGGCGGGCGCGGTGGCTCACGCCTATAATCCCGGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGATCAGGAGTTTGAGACTAGCCTGGCCAACATGGTGAAACACCGTCTCTACTAAAAATACAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACCCGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGAGCGACAGAGCTAGTCTCCGTCTCAAACAAAACAAAACAAAACCAAAACTAGAAGAGGAAAACCACTCTGGTCTGGGATACCTTGGTCCCAAATTTCCTTCTTCCCCCTTCCCATTCAGCCATCTTCCTTCTCACCTCACCGTCTCTTCCTCACCCCACTGCACCTCCCCACTCGGGGCATGGTCCACAAGTCATTTCAACCTCTCCCACTCTCATGCCCTAATTTCTCCCCACAACCAGATTACCCTTTTCTCTATGTGTCCCCATCACCTTGCCTCAGAGTCTGGCCCCTAATTCCATTTTCCATTTTTCTTTTCCCATTCCACTAGTCTCCCTTCCCAGGGGGTACTTCCTGCCCTAAGCTCACCTACAGGCACCTACTATGGGCCAGCCACTTAATACTGACTACTCCCCTCAAGCCCCCGGGACACATCCTCCGCCCCGCCTGAGCTGCAAGAGATCCTCCTATACCTTTAACCAACCTCCACGTGCGTGTTAACCGCGGTGACAGCATTTCCTTGTCTCTCTGCTCCCGCCCCCAAAGGCGCTACCCATTGGCCGCTGGGTTCCTCTGTTCTCGCTCTAATTGGCCTCGTTACCGAAAAGCTCCAACCAATGACCTCTCCGTGTCTGTCTCCCTCCTCCGATCCTGGAAACTCATTGGCTCCGAGGACTTAGGACCTGTTAGCTTGGTTGGGCGACTGGCAAATCCTTCCTTCCCCGGGGTAGAAGTCCAGGGTGAGAAATTGGTTCCGAACTCAAAGGAACCCAGTGCCGGGCCACAGCCGGGTCACGTGGCCGGCGGCCCCCCATGACGTGCTGGCTGCGGGGCGTCACGGCGACGTTCGGGCGACCTGCCGAGTGGCCAGGCTACCTCAGTCACCTGTGTGGTCGCAGTGCTGCCATGGACCTGGGACCCATGCGCAAGAGTTACCGCGGGGACCGAGAGGTGCCGCCGCTAGGGCCAGGCCTCCTGCAGGGGCGGGGGAAAAGGGGTCCCCGGAGTCATCTACAGCGGGGAGGGGAGTAGTAGGAGCCCCTCGGGGCTTCTGGGGCCACCCGGTGGGGCAAGGAGGTTTGAGGATCACCCCCCGTGGGAAAAGGGGGCTTCAAAGACATCCCACCAGGGGAGGAGTTCCGGGGAAACGCAAATGAAGATGGGTTCAAAAGGCAGCCTTTCGTAATGGGTAAGAGCTCGAACTTTGGAGCCTGCCTGGGTTGGAATGTTTAATGTATCTGGGCCTCAGTTTCCTCATCTGGGAAGTGATAGTATCTGCCTCACGGGGATGTTATGGTCTAAGATGTTTGTAAAGTGCTTAGAACCCTGCTACTCGACAGGTAGCAAGGTCAAATAACTTGCTCAGTCCCACAGCTAGTGATGAATGAATCGGGGTTTCATGTGATGGATGTCAGGACTGTGCTGGGCCTCCCTCAAGGGCGGGGGAAGAGGGGTCCTCGGAGTCATCTACTGGGGGGAGGGGAGTAGGAGGAAACAGCCCCTCAGGGCTTCTGGGGCCACCCCCTGGGGCAAGGAGATTTGGGGGTCACCCAAACCTCCTTGTGCCAGGTGGGCATGGTCATGGGCCCCTCTTTAGGTGGGTACAGTGACAAACAGCTTACAAACTGTTTGACAAAAAAGTAAGTGGAATATGGGGGAAGGGGACTAGCTCGGGGAGGAGGGGAGGAGAAAGCTCTTAGCTTACTGCCTTCAGTACTTTCTGCTGACCACTGGGAAGTTCTTTTCCTTTTCGCTCCTCAGGAGGGGAACCAAGAGAACCTTTTAGGAATTGGGGTCCAGGGCCCTGGTTGCCAAATCTGGTTGCATGTGGGCATTTCTAGAAACGCTTGTTTAAAATGCAGTTTTTCCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACAAAAAATTAAAATTAGTCGAGCATGTTGGAGCGTGCCTGTAATTCCAGCTACTTGGGAGGATGAGGTTGGAGGATTGCTTGAGCTCAGGAAGTTGAGACTGCAGTAAGCCGAGATCACACCACCGCACTCCAGCCTAGGTGACAGAGTGAGACCCTGTCTAAAATAAATAAATAAATAAATAAAAATGCAGTTTTTGATGAAGCCTCAGACCTGCTGAATGAGAAATTTTGGGGGTGGAGCCCAGAAAGTTTTTTTTATGCTCCCCAGGTGATTCTGATGCACAGACAGTTTTGACACCCATGACATGTAACCCTGATTTATCCATCACTAGCTGTGGGACAGCAAGTTGTCTGAGTTTTTATGCCTGTTTCCTCACCTGTAAAATGGGGCACAGAATCTTCTTACTGCATACTATTTCTTATTTTAAGGTCATTGTCATGAGGACTAAATGAGTTGATTTTTGAAAAGTGACTAGAACAGTGCCAGGTCCATAGTAAGCACTATATATGTTTATTAAATGAAATAAATCTCCTTTCCTAGGCATTTGAGGAGACTCATCTGACCTCCCTTGACCCAGTGAAACAGTTTGCTGCCTGGTTTGAGGAGGCTGTTCAGTGTCCTGACATAGGGGAAGCCAATGCCATGTGTCTGGCTACCTGCACCAGGTGGGCATGGCTGTGGGCCCCTCTTTGGGTGGATACATATGAACTAGGAAGCTTATGAAGCTCTCTACTCTGGATGCCAATTTTATGGTTCCAGCTCTGTTATTAACATGCTCTGTGGCTTTAGGCAAGATACTTGTCCTCTCTGGGCCTGTGTCCTTACCTATAAACCAAAGACCAGGCCACAAAATTACATTTCAGTGATAAAAATGCAGTGCCTTGTTCATTTCTGCCCTTGATACATCCACACACAACCCCTTGCCTCCCTCATCTCCCCATCTACCCAAGCCCCGTCTGCCATTCAGGAGCTACTTCTCCTGGTGAAGCTCTGTCTCTCTCTCGAAATCTAGCACAGTGCTTGACTATATCATTCCTTTGACAATCATATGCCCT
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CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTTCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGACAACTTCAACAGGAAAGTAAATCTACTCAACTTTCTCTCAATTATGCTGATGGAGGAAAATGATGGCAGCACAAAAAAATCCAACCAGTGGAGAATCCATAGACCAATATCATTAAGCCTTGAGACATGTATTATTTCTTTGCAGCAAAATTGTCTTCCAGATTCTATCTGGCTCAAGCTATGTACACATAAAGGATGACAGGTATCTAATGTAGGGCTTCATGAAGCTCAGCTGTAATGCAGACACCTGGCCAGGCCAGGAAGTTCCCCTTACCTGGCACAGTCCTGGGTGCCTGCCTAGATGGCTCTTGCAGTTCCCCTTCCTGATGCTGGTGGAAAGCAGGGCTACAGAGAGGTCTCGACCCAAGGCCGCCCCAGCCAGCTCAGAATTGGACTGGGCATGAGTGGGTTTCCCATTTTTCAGCCTTGCATCCACAGCCTGGAAAGGCTATGCACAGCCACCTGCTCAGTGTACTCTCAGTTGGCAATTGCTTGCATTGACCTAGGGGCTAGACTCCTACTACCTAGCATGGGCAAAATGTGGAAAAAGGGAAGCTTGACAAAGATTGGGGAGACCCTGGAGAAATGGGACATTGGCAGCCTTGCTATCTACCAGGACACTGGCTCCTATGAACTCCAGTGCACCATGGCAGGGGAAACCATGAGCAAAGGGAGTAAAATGCTCTGACCCTTGCTTAAATAAATGAGGCTGGAGGGAAGGGGTTTAAAACTAGAAGAGGTGGCGGGCGCGGTGGCTCACGCCTATAATCCCGGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGATCAGGAGTTTGAGACTAGCCTGGCCAACATGGTGAAACACCGTCTCTACTAAAAATACAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACCCGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGAGCGACAGAGCTAGTCTCCGTCTCAAACAAAACAAAACAAAACCAAAACTAGAAGAGGAAAACCACTCTGGTCTGGGATACCTTGGTCCCAAATTTCCTTCTTCCCCCTTCCCATTCAGCCATCTTCCTTCTCACCTCACCGTCTCTTCCTCACCCCACTGCACCTCCCCACTCGGGGCATGGTCCACAAGTCATTTCAACCTCTCCCACTCTCATGCCCTAATTTCTCCCCACAACCAGATTACCCTTTTCTCTATGTGTCCCCATCACCTTGCCTCAGAGTCTGGCCCCTAATTCCATTTTCCATTTTTCTTTTCCCATTCCACTAGTCTCCCTTCCCAGGGGGTACTTCCTGCCCTAAGCTCACCTACAGGCACCTACTATGGGCCAGCCACTTAATACTGACTACTCCCCTCAAGCCCCCGGGACACATCCTCCGCCCCGCCTGAGCTGCAAGAGATCCTCCTATACCTTTAACCAACCTCCACGTGCGTGTTAACCGCGGTGACAGCATTTCCTTGTCTCTCTGCTCCCGCCCCCAAAGGCGCTACCCATTGGCCGCTGGGTTCCTCTGTTCTCGCTCTAATTGGCCTCGTTACCGAAAAGCTCCAACCAATGACCTCTCCGTGTCTGTCTCCCTCCTCCGATCCTGGAAACTCATTGGCTCCGAGGACTTAGGACCTGTTAGCTTGGTTGGGCGACTGGCAAATCCTTCCTTCCCCGGGGTAGAAGTCCAGGGTGAGAAATTGGTTCCGAACTCAAAGGAACCCAGTGCCGGGCCACAGCCGGGTCACGTGGCCGGCGGCCCCCCATGACGTGCTGGCTGCGGGGCGTCACGGCGACGTTCGGGCGACCTGCCGAGTGGCCAGGCTACCTCAGTCACCTGTGTGGTCGCAGTGCTGCCATGGTCCTGGGACCCATGCGCAAGAGTTACCGCGGGGACCGAGAGGTGCCGCCGCTAGGGCCAGGCCTCCTGCAGGGGCGGGGGAAAAGGGGTCCCCGGAGTCATCTACAGCGGGGAGGGGAGTAGTAGGAGCCCCTCGGGGCTTCTGGGGCCACCCGGTGGGGCAAGGAGGTTTGAGGATCACCCCCCGTGGGAAAAGGGGGCTTCAAAGACATCCCACCAGGGGAGGAGTTCCGGGGAAACGCAAATGAAGATGGGTTCAAAAGGCAGCCTTTCGTAATGGGTAAGAGCTCGAACTTTGGAGCCTGCCTGGGTTGGAATGTTTAATGTATCTGGGCCTCAGTTTCCTCATCTGGGAAGTGATAGTATCTGCCTCACGGGGATGTTATGGTCTAAGATGTTTGTAAAGTGCTTAGAACCCTGCTACTCGACAGGTAGCAAGGTCAAATAACTTGCTCAGTCCCACAGCTAGTGATGAATGAATCGGGGTTTCATGTGATGGATGTCAGGACTGTGCTGGGCCTCCCTCAAGGGCGGGGGAAGAGGGGTCCTCGGAGTCATCTACTGGGGGGAGGGGAGTAGGAGGAAACAGCCCCTCAGGGCTTCTGGGGCCACCCCCTGGGGCAAGGAGATTTGGGGGTCACCCAAACCTCCTTGTGCCAGGTGGGCATGGTCATGGGCCCCTCTTTAGGTGGGTACAGTGACAAACAGCTTACAAACTGTTTGACAAAAAAGTAAGTGGAATATGGGGGAAGGGGACTAGCTCGGGGAGGAGGGGAGGAGAAAGCTCTTAGCTTACTGCCTTCAGTACTTTCTGCTGACCACTGGGAAGTTCTTTTCCTTTTCGCTCCTCAGGAGGGGAACCAAGAGAACCTTTTAGGAATTGGGGTCCAGGGCCCTGGTTGCCAAATCTGGTTGCATGTGGGCATTTCTAGAAACGCTTGTTTAAAATGCAGTTTTTCCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACAAAAAATTAAAATTAGTCGAGCATGTTGGAGCGTGCCTGTAATTCCAGCTACTTGGGAGGATGAGGTTGGAGGATTGCTTGAGCTCAGGAAGTTGAGACTGCAGTAAGCCGAGATCACACCACCGCACTCCAGCCTAGGTGACAGAGTGAGACCCTGTCTAAAATAAATAAATAAATAAATAAAAATGCAGTTTTTGATGAAGCCTCAGACCTGCTGAATGAGAAATTTTGGGGGTGGAGCCCAGAAAGTTTTTTTTATGCTCCCCAGGTGATTCTGATGCACAGACAGTTTTGACACCCATGACATGTAACCCTGATTTATCCATCACTAGCTGTGGGACAGCAAGTTGTCTGAGTTTTTATGCCTGTTTCCTCACCTGTAAAATGGGGCACAGAATCTTCTTACTGCATACTATTTCTTATTTTAAGGTCATTGTCATGAGGACTAAATGAGTTGATTTTTGAAAAGTGACTAGAACAGTGCCAGGTCCATAGTAAGCACTATATATGTTTATTAAATGAAATAAATCTCCTTTCCTAGGCATTTGAGGAGACTCATCTGACCTCCCTTGACCCAGTGAAACAGTTTGCTGCCTGGTTTGAGGAGGCTGTTCAGTGTCCTGACATAGGGGAAGCCAATGCCATGTGTCTGGCTACCTGCACCAGGTGGGCATGGCTGTGGGCCCCTCTTTGGGTGGATACATATGAACTAGGAAGCTTATGAAGCTCTCTACTCTGGATGCCAATTTTATGGTTCCAGCTCTGTTATTAACATGCTCTGTGGCTTTAGGCAAGATACTTGTCCTCTCTGGGCCTGTGTCCTTACCTATAAACCAAAGACCAGGCCACAAAATTACATTTCAGTGATAAAAATGCAGTGCCTTGTTCATTTCTGCCCTTGATACATCCACACACAACCCCTTGCCTCCCTCATCTCCCCATCTACCCAAGCCCCGTCTGCCATTCAGGAGCTACTTCTCCTGGTGAAGCTCTGTCTCTCTCTCGAAATCTAGCACAGTGCTTGACTATATCATTCCTTTGACAATCATATGCCCT
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Task1_train_24854
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The gene PNPO (pyridoxamine 5'-phosphate oxidase) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Pyridoxal phosphate-responsive seizures
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CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTTCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGACAACTTCAACAGGAAAGTAAATCTACTCAACTTTCTCTCAATTATGCTGATGGAGGAAAATGATGGCAGCACAAAAAAATCCAACCAGTGGAGAATCCATAGACCAATATCATTAAGCCTTGAGACATGTATTATTTCTTTGCAGCAAAATTGTCTTCCAGATTCTATCTGGCTCAAGCTATGTACACATAAAGGATGACAGGTATCTAATGTAGGGCTTCATGAAGCTCAGCTGTAATGCAGACACCTGGCCAGGCCAGGAAGTTCCCCTTACCTGGCACAGTCCTGGGTGCCTGCCTAGATGGCTCTTGCAGTTCCCCTTCCTGATGCTGGTGGAAAGCAGGGCTACAGAGAGGTCTCGACCCAAGGCCGCCCCAGCCAGCTCAGAATTGGACTGGGCATGAGTGGGTTTCCCATTTTTCAGCCTTGCATCCACAGCCTGGAAAGGCTATGCACAGCCACCTGCTCAGTGTACTCTCAGTTGGCAATTGCTTGCATTGACCTAGGGGCTAGACTCCTACTACCTAGCATGGGCAAAATGTGGAAAAAGGGAAGCTTGACAAAGATTGGGGAGACCCTGGAGAAATGGGACATTGGCAGCCTTGCTATCTACCAGGACACTGGCTCCTATGAACTCCAGTGCACCATGGCAGGGGAAACCATGAGCAAAGGGAGTAAAATGCTCTGACCCTTGCTTAAATAAATGAGGCTGGAGGGAAGGGGTTTAAAACTAGAAGAGGTGGCGGGCGCGGTGGCTCACGCCTATAATCCCGGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGATCAGGAGTTTGAGACTAGCCTGGCCAACATGGTGAAACACCGTCTCTACTAAAAATACAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACCCGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGAGCGACAGAGCTAGTCTCCGTCTCAAACAAAACAAAACAAAACCAAAACTAGAAGAGGAAAACCACTCTGGTCTGGGATACCTTGGTCCCAAATTTCCTTCTTCCCCCTTCCCATTCAGCCATCTTCCTTCTCACCTCACCGTCTCTTCCTCACCCCACTGCACCTCCCCACTCGGGGCATGGTCCACAAGTCATTTCAACCTCTCCCACTCTCATGCCCTAATTTCTCCCCACAACCAGATTACCCTTTTCTCTATGTGTCCCCATCACCTTGCCTCAGAGTCTGGCCCCTAATTCCATTTTCCATTTTTCTTTTCCCATTCCACTAGTCTCCCTTCCCAGGGGGTACTTCCTGCCCTAAGCTCACCTACAGGCACCTACTATGGGCCAGCCACTTAATACTGACTACTCCCCTCAAGCCCCCGGGACACATCCTCCGCCCCGCCTGAGCTGCAAGAGATCCTCCTATACCTTTAACCAACCTCCACGTGCGTGTTAACCGCGGTGACAGCATTTCCTTGTCTCTCTGCTCCCGCCCCCAAAGGCGCTACCCATTGGCCGCTGGGTTCCTCTGTTCTCGCTCTAATTGGCCTCGTTACCGAAAAGCTCCAACCAATGACCTCTCCGTGTCTGTCTCCCTCCTCCGATCCTGGAAACTCATTGGCTCCGAGGACTTAGGACCTGTTAGCTTGGTTGGGCGACTGGCAAATCCTTCCTTCCCCGGGGTAGAAGTCCAGGGTGAGAAATTGGTTCCGAACTCAAAGGAACCCAGTGCCGGGCCACAGCCGGGTCACGTGGCCGGCGGCCCCCCATGACGTGCTGGCTGCGGGGCGTCACGGCGACGTTCGGGCGACCTGCCGAGTGGCCAGGCTACCTCAGTCACCTGTGTGGTCGCAGTGCTGCCATGGACCTGGGACCCATGCGCAAGAGTTACCGCGGGGACCGAGAGGTGCCGCCGCTAGGGCCAGGCCTCCTGCAGGGGCGGGGGAAAAGGGGTCCCCGGAGTCATCTACAGCGGGGAGGGGAGTAGTAGGAGCCCCTCGGGGCTTCTGGGGCCACCCGGTGGGGCAAGGAGGTTTGAGGATCACCCCCCGTGGGAAAAGGGGGCTTCAAAGACATCCCACCAGGGGAGGAGTTCCGGGGAAACGCAAATGAAGATGGGTTCAAAAGGCAGCCTTTCGTAATGGGTAAGAGCTCGAACTTTGGAGCCTGCCTGGGTTGGAATGTTTAATGTATCTGGGCCTCAGTTTCCTCATCTGGGAAGTGATAGTATCTGCCTCACGGGGATGTTATGGTCTAAGATGTTTGTAAAGTGCTTAGAACCCTGCTACTCGACAGGTAGCAAGGTCAAATAACTTGCTCAGTCCCACAGCTAGTGATGAATGAATCGGGGTTTCATGTGATGGATGTCAGGACTGTGCTGGGCCTCCCTCAAGGGCGGGGGAAGAGGGGTCCTCGGAGTCATCTACTGGGGGGAGGGGAGTAGGAGGAAACAGCCCCTCAGGGCTTCTGGGGCCACCCCCTGGGGCAAGGAGATTTGGGGGTCACCCAAACCTCCTTGTGCCAGGTGGGCATGGTCATGGGCCCCTCTTTAGGTGGGTACAGTGACAAACAGCTTACAAACTGTTTGACAAAAAAGTAAGTGGAATATGGGGGAAGGGGACTAGCTCGGGGAGGAGGGGAGGAGAAAGCTCTTAGCTTACTGCCTTCAGTACTTTCTGCTGACCACTGGGAAGTTCTTTTCCTTTTCGCTCCTCAGGAGGGGAACCAAGAGAACCTTTTAGGAATTGGGGTCCAGGGCCCTGGTTGCCAAATCTGGTTGCATGTGGGCATTTCTAGAAACGCTTGTTTAAAATGCAGTTTTTCCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACAAAAAATTAAAATTAGTCGAGCATGTTGGAGCGTGCCTGTAATTCCAGCTACTTGGGAGGATGAGGTTGGAGGATTGCTTGAGCTCAGGAAGTTGAGACTGCAGTAAGCCGAGATCACACCACCGCACTCCAGCCTAGGTGACAGAGTGAGACCCTGTCTAAAATAAATAAATAAATAAATAAAAATGCAGTTTTTGATGAAGCCTCAGACCTGCTGAATGAGAAATTTTGGGGGTGGAGCCCAGAAAGTTTTTTTTATGCTCCCCAGGTGATTCTGATGCACAGACAGTTTTGACACCCATGACATGTAACCCTGATTTATCCATCACTAGCTGTGGGACAGCAAGTTGTCTGAGTTTTTATGCCTGTTTCCTCACCTGTAAAATGGGGCACAGAATCTTCTTACTGCATACTATTTCTTATTTTAAGGTCATTGTCATGAGGACTAAATGAGTTGATTTTTGAAAAGTGACTAGAACAGTGCCAGGTCCATAGTAAGCACTATATATGTTTATTAAATGAAATAAATCTCCTTTCCTAGGCATTTGAGGAGACTCATCTGACCTCCCTTGACCCAGTGAAACAGTTTGCTGCCTGGTTTGAGGAGGCTGTTCAGTGTCCTGACATAGGGGAAGCCAATGCCATGTGTCTGGCTACCTGCACCAGGTGGGCATGGCTGTGGGCCCCTCTTTGGGTGGATACATATGAACTAGGAAGCTTATGAAGCTCTCTACTCTGGATGCCAATTTTATGGTTCCAGCTCTGTTATTAACATGCTCTGTGGCTTTAGGCAAGATACTTGTCCTCTCTGGGCCTGTGTCCTTACCTATAAACCAAAGACCAGGCCACAAAATTACATTTCAGTGATAAAAATGCAGTGCCTTGTTCATTTCTGCCCTTGATACATCCACACACAACCCCTTGCCTCCCTCATCTCCCCATCTACCCAAGCCCCGTCTGCCATTCAGGAGCTACTTCTCCTGGTGAAGCTCTGTCTCTCTCTCGAAATCTAGCACAGTGCTTGACTATATCATTCCTTTGACAATCATATGCCCT
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CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTTCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGACAACTTCAACAGGAAAGTAAATCTACTCAACTTTCTCTCAATTATGCTGATGGAGGAAAATGATGGCAGCACAAAAAAATCCAACCAGTGGAGAATCCATAGACCAATATCATTAAGCCTTGAGACATGTATTATTTCTTTGCAGCAAAATTGTCTTCCAGATTCTATCTGGCTCAAGCTATGTACACATAAAGGATGACAGGTATCTAATGTAGGGCTTCATGAAGCTCAGCTGTAATGCAGACACCTGGCCAGGCCAGGAAGTTCCCCTTACCTGGCACAGTCCTGGGTGCCTGCCTAGATGGCTCTTGCAGTTCCCCTTCCTGATGCTGGTGGAAAGCAGGGCTACAGAGAGGTCTCGACCCAAGGCCGCCCCAGCCAGCTCAGAATTGGACTGGGCATGAGTGGGTTTCCCATTTTTCAGCCTTGCATCCACAGCCTGGAAAGGCTATGCACAGCCACCTGCTCAGTGTACTCTCAGTTGGCAATTGCTTGCATTGACCTAGGGGCTAGACTCCTACTACCTAGCATGGGCAAAATGTGGAAAAAGGGAAGCTTGACAAAGATTGGGGAGACCCTGGAGAAATGGGACATTGGCAGCCTTGCTATCTACCAGGACACTGGCTCCTATGAACTCCAGTGCACCATGGCAGGGGAAACCATGAGCAAAGGGAGTAAAATGCTCTGACCCTTGCTTAAATAAATGAGGCTGGAGGGAAGGGGTTTAAAACTAGAAGAGGTGGCGGGCGCGGTGGCTCACGCCTATAATCCCGGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTGAGATCAGGAGTTTGAGACTAGCCTGGCCAACATGGTGAAACACCGTCTCTACTAAAAATACAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACCCGGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGAGCGACAGAGCTAGTCTCCGTCTCAAACAAAACAAAACAAAACCAAAACTAGAAGAGGAAAACCACTCTGGTCTGGGATACCTTGGTCCCAAATTTCCTTCTTCCCCCTTCCCATTCAGCCATCTTCCTTCTCACCTCACCGTCTCTTCCTCACCCCACTGCACCTCCCCACTCGGGGCATGGTCCACAAGTCATTTCAACCTCTCCCACTCTCATGCCCTAATTTCTCCCCACAACCAGATTACCCTTTTCTCTATGTGTCCCCATCACCTTGCCTCAGAGTCTGGCCCCTAATTCCATTTTCCATTTTTCTTTTCCCATTCCACTAGTCTCCCTTCCCAGGGGGTACTTCCTGCCCTAAGCTCACCTACAGGCACCTACTATGGGCCAGCCACTTAATACTGACTACTCCCCTCAAGCCCCCGGGACACATCCTCCGCCCCGCCTGAGCTGCAAGAGATCCTCCTATACCTTTAACCAACCTCCACGTGCGTGTTAACCGCGGTGACAGCATTTCCTTGTCTCTCTGCTCCCGCCCCCAAAGGCGCTACCCATTGGCCGCTGGGTTCCTCTGTTCTCGCTCTAATTGGCCTCGTTACCGAAAAGCTCCAACCAATGACCTCTCCGTGTCTGTCTCCCTCCTCCGATCCTGGAAACTCATTGGCTCCGAGGACTTAGGACCTGTTAGCTTGGTTGGGCGACTGGCAAATCCTTCCTTCCCCGGGGTAGAAGTCCAGGGTGAGAAATTGGTTCCGAACTCAAAGGAACCCAGTGCCGGGCCACAGCCGGGTCACGTGGCCGGCGGCCCCCCATGACGTGCTGGCTGCGGGGCGTCACGGCGACGTTCGGGCGACCTGCCGAGTGGCCAGGCTACCTCAGTCACCTGTGTGGTCGCAGTGCTGCCATGGTCCTGGGACCCATGCGCAAGAGTTACCGCGGGGACCGAGAGGTGCCGCCGCTAGGGCCAGGCCTCCTGCAGGGGCGGGGGAAAAGGGGTCCCCGGAGTCATCTACAGCGGGGAGGGGAGTAGTAGGAGCCCCTCGGGGCTTCTGGGGCCACCCGGTGGGGCAAGGAGGTTTGAGGATCACCCCCCGTGGGAAAAGGGGGCTTCAAAGACATCCCACCAGGGGAGGAGTTCCGGGGAAACGCAAATGAAGATGGGTTCAAAAGGCAGCCTTTCGTAATGGGTAAGAGCTCGAACTTTGGAGCCTGCCTGGGTTGGAATGTTTAATGTATCTGGGCCTCAGTTTCCTCATCTGGGAAGTGATAGTATCTGCCTCACGGGGATGTTATGGTCTAAGATGTTTGTAAAGTGCTTAGAACCCTGCTACTCGACAGGTAGCAAGGTCAAATAACTTGCTCAGTCCCACAGCTAGTGATGAATGAATCGGGGTTTCATGTGATGGATGTCAGGACTGTGCTGGGCCTCCCTCAAGGGCGGGGGAAGAGGGGTCCTCGGAGTCATCTACTGGGGGGAGGGGAGTAGGAGGAAACAGCCCCTCAGGGCTTCTGGGGCCACCCCCTGGGGCAAGGAGATTTGGGGGTCACCCAAACCTCCTTGTGCCAGGTGGGCATGGTCATGGGCCCCTCTTTAGGTGGGTACAGTGACAAACAGCTTACAAACTGTTTGACAAAAAAGTAAGTGGAATATGGGGGAAGGGGACTAGCTCGGGGAGGAGGGGAGGAGAAAGCTCTTAGCTTACTGCCTTCAGTACTTTCTGCTGACCACTGGGAAGTTCTTTTCCTTTTCGCTCCTCAGGAGGGGAACCAAGAGAACCTTTTAGGAATTGGGGTCCAGGGCCCTGGTTGCCAAATCTGGTTGCATGTGGGCATTTCTAGAAACGCTTGTTTAAAATGCAGTTTTTCCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACAAAAAATTAAAATTAGTCGAGCATGTTGGAGCGTGCCTGTAATTCCAGCTACTTGGGAGGATGAGGTTGGAGGATTGCTTGAGCTCAGGAAGTTGAGACTGCAGTAAGCCGAGATCACACCACCGCACTCCAGCCTAGGTGACAGAGTGAGACCCTGTCTAAAATAAATAAATAAATAAATAAAAATGCAGTTTTTGATGAAGCCTCAGACCTGCTGAATGAGAAATTTTGGGGGTGGAGCCCAGAAAGTTTTTTTTATGCTCCCCAGGTGATTCTGATGCACAGACAGTTTTGACACCCATGACATGTAACCCTGATTTATCCATCACTAGCTGTGGGACAGCAAGTTGTCTGAGTTTTTATGCCTGTTTCCTCACCTGTAAAATGGGGCACAGAATCTTCTTACTGCATACTATTTCTTATTTTAAGGTCATTGTCATGAGGACTAAATGAGTTGATTTTTGAAAAGTGACTAGAACAGTGCCAGGTCCATAGTAAGCACTATATATGTTTATTAAATGAAATAAATCTCCTTTCCTAGGCATTTGAGGAGACTCATCTGACCTCCCTTGACCCAGTGAAACAGTTTGCTGCCTGGTTTGAGGAGGCTGTTCAGTGTCCTGACATAGGGGAAGCCAATGCCATGTGTCTGGCTACCTGCACCAGGTGGGCATGGCTGTGGGCCCCTCTTTGGGTGGATACATATGAACTAGGAAGCTTATGAAGCTCTCTACTCTGGATGCCAATTTTATGGTTCCAGCTCTGTTATTAACATGCTCTGTGGCTTTAGGCAAGATACTTGTCCTCTCTGGGCCTGTGTCCTTACCTATAAACCAAAGACCAGGCCACAAAATTACATTTCAGTGATAAAAATGCAGTGCCTTGTTCATTTCTGCCCTTGATACATCCACACACAACCCCTTGCCTCCCTCATCTCCCCATCTACCCAAGCCCCGTCTGCCATTCAGGAGCTACTTCTCCTGGTGAAGCTCTGTCTCTCTCTCGAAATCTAGCACAGTGCTTGACTATATCATTCCTTTGACAATCATATGCCCT
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Task1_train_24855
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This variant impacts the gene PNPO (pyridoxamine 5'-phosphate oxidase) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Pyridoxal phosphate-responsive seizures
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GAAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTCAGCCCACATGTTACCTCCTCAGGAAGGCCTTCCTTGACTCTCACTCAGACTCAGCCCCTCATGCTGTTTGCTGCCATTATAACTTGCAACTTTCTTTTTTGTCTTCTTCTTCAGTTTGTAACTGAGCATTTGTTTGGGTGATTATGTAACTGATATTTGTCTCCTCTGCTCAACAGTAAGCTCTGTAGGAGTGGAGGCTGCTCTGTTTTATCTCTGCTGTATCCCCCGCACGTCTCCTGTTGTCAGACCCAGAGTGGGCACTTCGCGTGCATTCAATGAATGAATCCAAAATGAGTAAACCTCCCTGAGTCCATGCCAGCCAAGCATGCATTTCTCAAGACTCACAAATCTGTGGGTGAGAGAAATCACCCAGTCTCACTTTGGAGTCCGACTGGCTTAAACTTAGCTCCACCACTTCCTGCAGGAACTTGGGCACGTGACTTAGCCTGTCTCTGTGTCTGTGACAATAGGCCTACTTTTGAGGGTTTAAATGAGCTCTTACGGTGGGTGCATCTGCTGTGGGCCTGCGCACTACAGCTCTCCTGCCTTTTCCCTGCATGCCGGAGGCCTCCTCTCCCTGTCCTGATGGCTGGCTGTGGATTCTCTTTTACTTCTAGGACTCTAATCCCTTTGCTTCCCTTGTCTTCTACTGGGAGCCACTTAACCGTCAGGTGAGTGAATTTTCCCAGGACAGCCTGGGATGGGCTGGGTTGGCAGGGCCTGAGTTTATGGCTACGTCTAGCGAAGGTCCCCAGACTGGGCAAACATCCCAGCTGGGCACTCTGCCTCTAAAATAGCCCTCAGTTAGTTGGAGCCAAGAGTGGTGGGGCAGCCGATCGAACAGAGAGGAACGGGGCCTGTGCTGGTAGGGAGGGCAGGTGGCATTTAATGCCATTCACCCAGAGCCATCCCTGAGCAGGTGCGTGTGGAAGGCCCTGTGAAGAAACTGCCTGAGGAGGAGGCTGAGTGCTACTTCCACTCCCGCCCCAAGAGCAGCCAGATTGGGGCTGTGGTCAGCCACCAGAGTTCTGTGATCCCTGATCGGGAGGTGAGTGGAGCTCCGCTGTAGTCCTCCAGGTGGTGGAGGCTTTGGCTTATCCCCAGAAGCTGTCCCCAGGAGATGCCAGGAGATGTCCCCAGGAGATGTCCTCTCTCTCCAGCCCAGTGAAAACAGTGAAAAGGACAGTGAGAAGGGAAAGTGGGGGTAGGGAGAGGGGAAATAGGCCTCCTCTGTCCATCTGGCCATCCTGTTGACTGCTCCTGGAGGACAGAGGCCAGTCTGCTCTGCTCACCCATGTCCCCAGCACATATCCCCAGGAAGTCCTTGTTAATGAATCATTGACTGGGCCTGGCCCTTCTTCTAACTCTTCCCCCTGGACAGTATCTGAGAAAGAAAAATGAGGAACTGGAACAGCTCTACCAGGATCAAGAGGTGCCCAAGCCAAAATCCTGGTGAGTGACATCTGGTAGTCCTCTAGAAAGGGACACCAGGCCCCTGTGTTTACTTGAAGCCACCTGCCTGGGGAATCACAGATCTCCTCCTCCCTGGCCACCCTTGTCAGATGCATCCCAGCAACTTCCTTCAAGAGGCCCTGGGATGAGGGGTGAGGGTGGGAGAGTGACCTGGCTAGAAAACTCCACAGAGCACTGAAACCTCTGCTTCTCCTTATAGGGGTGGCTATGTCCTGTACCCTCAGGTGATGGAGTTCTGGCAAGGTCAAACCAACCGCCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACCCACAGGAGATTCCCCTTTGGGGCCCATGACCCACCGCGGGGAGGAAGACTGGCTCTATGAGAGACTTGCACCTTAACTCTGGGACCTGCTGGCCCAGAGTGGAGCTAGGGCTAGGTGTCAAGAGAGGGTGTGGGATTGGGACCCAGGCCCTTCTTTCTAAACTCAACCCATTTCCCTCCCTACCCCTTATCTTCAGGACTCTTCAGAGCTAATCCTCTAAGTTCTCTGTACTCAGTTGGTTCTCAGTTAGCTGGTCAAGTGGAGTGTAATGGTGGCGTAGAGAATCACAAATGGAAAATAATTCCATAATTATTTTTTTGACCTTGCCTATGATTGATTAGGATAGCTCCCTCTAGGGGTAGCAGCCGGTGTGACTCCCTTTCTGGTGACAGACAGGGCCCCAGCAGCCCTGTCTGTTACCATGTGAGTCATACTGGCCAAAGCTTAGTCCTAGCATATGCACCTGAGCCAACCTGGCCAATCAGATTGTTTTGTCAATAATTTGAAATTTGAACTGGAGAGATCCAGAACCTTGGGAGTCATTAAAGCCAAGTCATTCATAGCAGCCAGGAAACAATAGGAACCAAAAGCCTCTGCCTGCTGCTATTGCAATTCCCAGGATCTCTCCTTCCCTGGATCCCTCCCTCCCAGGTCTGGGCTGTGCAGTTCCTCCCCCTGCCTTAAAACACCCCACTATCTCTGTAAAGTCTCTCTCTCTCTTTTTTTTTTTTTTACTTAATCTAGCTAGAATCTATTTCTGTTGATTACAACTTAACTAACTCATTTACGGATAGGACTTTTTTTTTTCTTTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATTGTCTCCATCTCTTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCGAGACGGGGTTTCATTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTAAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCTTGGCCGGGATAGTATATTTTTATAGCACTTCCCCTACTGATTGCTGCCTTCTCTGTGGCTACAAGGGACCCACAGAATTACAGGGAAGTTACAGGGAAGCAGGTTTCATCTCAATATTGGGAGAGATTTCAAACAATCACACCTGCCTGAGAAGGAGTGGGCTGTCACTAGGAATTTTTATTCCCAGTCCGTCAGGAATTTTGTAGAAGGGCTTCATGTGCTGGTACCAATAGGACAGGAAGATTTTAATCAGCTTTACTATCTATGTTTTTTTATGGAAACTGTGTGTATGTATACATACATTTTCCAAAAAGAAAAATTAAATGATTATAGAGATTATGTTTTTCAGACTACTCACGTATCTGCTTTTCTTACTCCCCACCTCTGCTGATAATTCCTAGTTCATTGGTTTTTCCCCCACACTGGAATTACCTGGGGAGCTTAAAAAACCCTGATGCCTGGGTCCCACCCTCAGAGATGATTGAACCAGCCTGGCCAGCATGGCAAAACCCTGTCTCTACTATGATATGAATGCAGCCTGGGCACTGGGAAATTTAAAAACTCCCCAGATAATTCTGTGCAGCCAAGGTTGAGACCTCCTAGTCTAGAGCTTTGCTATACACAGGGTGGTCCACAAGCCAGGAGCATCAGCATCACTTGGCAGCGCCTTAGAGATTCAGACCCCAGACCCACTGAATCTGACCCTGCATTTTCACTAGACCCCAGGTGATCAGCTGCACTAGACTCAACCTCTAAACCAAGACCTCCCACCCTCACAGT
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GAAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTCAGCCCACATGTTACCTCCTCAGGAAGGCCTTCCTTGACTCTCACTCAGACTCAGCCCCTCATGCTGTTTGCTGCCATTATAACTTGCAACTTTCTTTTTTGTCTTCTTCTTCAGTTTGTAACTGAGCATTTGTTTGGGTGATTATGTAACTGATATTTGTCTCCTCTGCTCAACAGTAAGCTCTGTAGGAGTGGAGGCTGCTCTGTTTTATCTCTGCTGTATCCCCCGCACGTCTCCTGTTGTCAGACCCAGAGTGGGCACTTCGCGTGCATTCAATGAATGAATCCAAAATGAGTAAACCTCCCTGAGTCCATGCCAGCCAAGCATGCATTTCTCAAGACTCACAAATCTGTGGGTGAGAGAAATCACCCAGTCTCACTTTGGAGTCCGACTGGCTTAAACTTAGCTCCACCACTTCCTGCAGGAACTTGGGCACGTGACTTAGCCTGTCTCTGTGTCTGTGACAATAGGCCTACTTTTGAGGGTTTAAATGAGCTCTTACGGTGGGTGCATCTGCTGTGGGCCTGCGCACTACAGCTCTCCTGCCTTTTCCCTGCATGCCGGAGGCCTCCTCTCCCTGTCCTGATGGCTGGCTGTGGATTCTCTTTTACTTCTAGGACTCTAATCCCTTTGCTTCCCTTGTCTTCTACTGGGAGCCACTTAACCGTCAGGTGAGTGAATTTTCCCAGGACAGCCTGGGATGGGCTGGGTTGGCAGGGCCTGAGTTTATGGCTACGTCTAGCGAAGGTCCCCAGACTGGGCAAACATCCCAGCTGGGCACTCTGCCTCTAAAATAGCCCTCAGTTAGTTGGAGCCAAGAGTGGTGGGGCAGCCGATCGAACAGAGAGGAACGGGGCCTGTGCTGGTAGGGAGGGCAGGTGGCATTTAATGCCATTCACCCAGAGCCATCCCTGAGCAGGTGCGTGTGGAAGGCCCTGTGAAGAAACTGCCTGAGGAGGAGGCTGAGTGCTACTTCCACTCCCGCCCCAAGAGCAGCCAGATTGGGGCTGTGGTCAGCCACCAGAGTTCTGTGATCCCTGATCGGGAGGTGAGTGGAGCTCCGCTGTAGTCCTCCAGGTGGTGGAGGCTTTGGCTTATCCCCAGAAGCTGTCCCCAGGAGATGCCAGGAGATGTCCCCAGGAGATGTCCTCTCTCTCCAGCCCAGTGAAAACAGTGAAAAGGACAGTGAGAAGGGAAAGTGGGGGTAGGGAGAGGGGAAATAGGCCTCCTCTGTCCATCTGGCCATCCTGTTGACTGCTCCTGGAGGACAGAGGCCAGTCTGCTCTGCTCACCCATGTCCCCAGCACATATCCCCAGGAAGTCCTTGTTAATGAATCATTGACTGGGCCTGGCCCTTCTTCTAACTCTTCCCCCTGGACAGTATCTGAGAAAGAAAAATGAGGAACTGGAACAGCTCTACCAGGATCAAGAGGTGCCCAAGCCAAAATCCTGGTGAGTGACATCTGGTAGTCCTCTAGAAAGGGACACCAGGCCCCTGTGTTTACTTGAAGCCACCTGCCTGGGGAATCACAGATCTCCTCCTCCCTGGCCACCCTTGTCAGATGCATCCCAGCAACTTCCTTCAAGAGGCCCTGGGATGAGGGGTGAGGGTGGGAGAGTGACCTGGCTAGAAAACTCCACAGAGCACTGAAACCTCTGCTTCTCCTTATAGGGGTGGCTATGTCCTGTACCCTCAGGTGATGGAGTTCTGGCAAGGTCAAACCAACTGCCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACCCACAGGAGATTCCCCTTTGGGGCCCATGACCCACCGCGGGGAGGAAGACTGGCTCTATGAGAGACTTGCACCTTAACTCTGGGACCTGCTGGCCCAGAGTGGAGCTAGGGCTAGGTGTCAAGAGAGGGTGTGGGATTGGGACCCAGGCCCTTCTTTCTAAACTCAACCCATTTCCCTCCCTACCCCTTATCTTCAGGACTCTTCAGAGCTAATCCTCTAAGTTCTCTGTACTCAGTTGGTTCTCAGTTAGCTGGTCAAGTGGAGTGTAATGGTGGCGTAGAGAATCACAAATGGAAAATAATTCCATAATTATTTTTTTGACCTTGCCTATGATTGATTAGGATAGCTCCCTCTAGGGGTAGCAGCCGGTGTGACTCCCTTTCTGGTGACAGACAGGGCCCCAGCAGCCCTGTCTGTTACCATGTGAGTCATACTGGCCAAAGCTTAGTCCTAGCATATGCACCTGAGCCAACCTGGCCAATCAGATTGTTTTGTCAATAATTTGAAATTTGAACTGGAGAGATCCAGAACCTTGGGAGTCATTAAAGCCAAGTCATTCATAGCAGCCAGGAAACAATAGGAACCAAAAGCCTCTGCCTGCTGCTATTGCAATTCCCAGGATCTCTCCTTCCCTGGATCCCTCCCTCCCAGGTCTGGGCTGTGCAGTTCCTCCCCCTGCCTTAAAACACCCCACTATCTCTGTAAAGTCTCTCTCTCTCTTTTTTTTTTTTTTACTTAATCTAGCTAGAATCTATTTCTGTTGATTACAACTTAACTAACTCATTTACGGATAGGACTTTTTTTTTTCTTTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATTGTCTCCATCTCTTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCGAGACGGGGTTTCATTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTAAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCTTGGCCGGGATAGTATATTTTTATAGCACTTCCCCTACTGATTGCTGCCTTCTCTGTGGCTACAAGGGACCCACAGAATTACAGGGAAGTTACAGGGAAGCAGGTTTCATCTCAATATTGGGAGAGATTTCAAACAATCACACCTGCCTGAGAAGGAGTGGGCTGTCACTAGGAATTTTTATTCCCAGTCCGTCAGGAATTTTGTAGAAGGGCTTCATGTGCTGGTACCAATAGGACAGGAAGATTTTAATCAGCTTTACTATCTATGTTTTTTTATGGAAACTGTGTGTATGTATACATACATTTTCCAAAAAGAAAAATTAAATGATTATAGAGATTATGTTTTTCAGACTACTCACGTATCTGCTTTTCTTACTCCCCACCTCTGCTGATAATTCCTAGTTCATTGGTTTTTCCCCCACACTGGAATTACCTGGGGAGCTTAAAAAACCCTGATGCCTGGGTCCCACCCTCAGAGATGATTGAACCAGCCTGGCCAGCATGGCAAAACCCTGTCTCTACTATGATATGAATGCAGCCTGGGCACTGGGAAATTTAAAAACTCCCCAGATAATTCTGTGCAGCCAAGGTTGAGACCTCCTAGTCTAGAGCTTTGCTATACACAGGGTGGTCCACAAGCCAGGAGCATCAGCATCACTTGGCAGCGCCTTAGAGATTCAGACCCCAGACCCACTGAATCTGACCCTGCATTTTCACTAGACCCCAGGTGATCAGCTGCACTAGACTCAACCTCTAAACCAAGACCTCCCACCCTCACAGT
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Task1_train_24856
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Given a variant located on Chromosome 17 and affecting PNPO (pyridoxamine 5'-phosphate oxidase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; PNPO-related disorder
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GAAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTCAGCCCACATGTTACCTCCTCAGGAAGGCCTTCCTTGACTCTCACTCAGACTCAGCCCCTCATGCTGTTTGCTGCCATTATAACTTGCAACTTTCTTTTTTGTCTTCTTCTTCAGTTTGTAACTGAGCATTTGTTTGGGTGATTATGTAACTGATATTTGTCTCCTCTGCTCAACAGTAAGCTCTGTAGGAGTGGAGGCTGCTCTGTTTTATCTCTGCTGTATCCCCCGCACGTCTCCTGTTGTCAGACCCAGAGTGGGCACTTCGCGTGCATTCAATGAATGAATCCAAAATGAGTAAACCTCCCTGAGTCCATGCCAGCCAAGCATGCATTTCTCAAGACTCACAAATCTGTGGGTGAGAGAAATCACCCAGTCTCACTTTGGAGTCCGACTGGCTTAAACTTAGCTCCACCACTTCCTGCAGGAACTTGGGCACGTGACTTAGCCTGTCTCTGTGTCTGTGACAATAGGCCTACTTTTGAGGGTTTAAATGAGCTCTTACGGTGGGTGCATCTGCTGTGGGCCTGCGCACTACAGCTCTCCTGCCTTTTCCCTGCATGCCGGAGGCCTCCTCTCCCTGTCCTGATGGCTGGCTGTGGATTCTCTTTTACTTCTAGGACTCTAATCCCTTTGCTTCCCTTGTCTTCTACTGGGAGCCACTTAACCGTCAGGTGAGTGAATTTTCCCAGGACAGCCTGGGATGGGCTGGGTTGGCAGGGCCTGAGTTTATGGCTACGTCTAGCGAAGGTCCCCAGACTGGGCAAACATCCCAGCTGGGCACTCTGCCTCTAAAATAGCCCTCAGTTAGTTGGAGCCAAGAGTGGTGGGGCAGCCGATCGAACAGAGAGGAACGGGGCCTGTGCTGGTAGGGAGGGCAGGTGGCATTTAATGCCATTCACCCAGAGCCATCCCTGAGCAGGTGCGTGTGGAAGGCCCTGTGAAGAAACTGCCTGAGGAGGAGGCTGAGTGCTACTTCCACTCCCGCCCCAAGAGCAGCCAGATTGGGGCTGTGGTCAGCCACCAGAGTTCTGTGATCCCTGATCGGGAGGTGAGTGGAGCTCCGCTGTAGTCCTCCAGGTGGTGGAGGCTTTGGCTTATCCCCAGAAGCTGTCCCCAGGAGATGCCAGGAGATGTCCCCAGGAGATGTCCTCTCTCTCCAGCCCAGTGAAAACAGTGAAAAGGACAGTGAGAAGGGAAAGTGGGGGTAGGGAGAGGGGAAATAGGCCTCCTCTGTCCATCTGGCCATCCTGTTGACTGCTCCTGGAGGACAGAGGCCAGTCTGCTCTGCTCACCCATGTCCCCAGCACATATCCCCAGGAAGTCCTTGTTAATGAATCATTGACTGGGCCTGGCCCTTCTTCTAACTCTTCCCCCTGGACAGTATCTGAGAAAGAAAAATGAGGAACTGGAACAGCTCTACCAGGATCAAGAGGTGCCCAAGCCAAAATCCTGGTGAGTGACATCTGGTAGTCCTCTAGAAAGGGACACCAGGCCCCTGTGTTTACTTGAAGCCACCTGCCTGGGGAATCACAGATCTCCTCCTCCCTGGCCACCCTTGTCAGATGCATCCCAGCAACTTCCTTCAAGAGGCCCTGGGATGAGGGGTGAGGGTGGGAGAGTGACCTGGCTAGAAAACTCCACAGAGCACTGAAACCTCTGCTTCTCCTTATAGGGGTGGCTATGTCCTGTACCCTCAGGTGATGGAGTTCTGGCAAGGTCAAACCAACCGCCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACCCACAGGAGATTCCCCTTTGGGGCCCATGACCCACCGCGGGGAGGAAGACTGGCTCTATGAGAGACTTGCACCTTAACTCTGGGACCTGCTGGCCCAGAGTGGAGCTAGGGCTAGGTGTCAAGAGAGGGTGTGGGATTGGGACCCAGGCCCTTCTTTCTAAACTCAACCCATTTCCCTCCCTACCCCTTATCTTCAGGACTCTTCAGAGCTAATCCTCTAAGTTCTCTGTACTCAGTTGGTTCTCAGTTAGCTGGTCAAGTGGAGTGTAATGGTGGCGTAGAGAATCACAAATGGAAAATAATTCCATAATTATTTTTTTGACCTTGCCTATGATTGATTAGGATAGCTCCCTCTAGGGGTAGCAGCCGGTGTGACTCCCTTTCTGGTGACAGACAGGGCCCCAGCAGCCCTGTCTGTTACCATGTGAGTCATACTGGCCAAAGCTTAGTCCTAGCATATGCACCTGAGCCAACCTGGCCAATCAGATTGTTTTGTCAATAATTTGAAATTTGAACTGGAGAGATCCAGAACCTTGGGAGTCATTAAAGCCAAGTCATTCATAGCAGCCAGGAAACAATAGGAACCAAAAGCCTCTGCCTGCTGCTATTGCAATTCCCAGGATCTCTCCTTCCCTGGATCCCTCCCTCCCAGGTCTGGGCTGTGCAGTTCCTCCCCCTGCCTTAAAACACCCCACTATCTCTGTAAAGTCTCTCTCTCTCTTTTTTTTTTTTTTACTTAATCTAGCTAGAATCTATTTCTGTTGATTACAACTTAACTAACTCATTTACGGATAGGACTTTTTTTTTTCTTTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATTGTCTCCATCTCTTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCGAGACGGGGTTTCATTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTAAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCTTGGCCGGGATAGTATATTTTTATAGCACTTCCCCTACTGATTGCTGCCTTCTCTGTGGCTACAAGGGACCCACAGAATTACAGGGAAGTTACAGGGAAGCAGGTTTCATCTCAATATTGGGAGAGATTTCAAACAATCACACCTGCCTGAGAAGGAGTGGGCTGTCACTAGGAATTTTTATTCCCAGTCCGTCAGGAATTTTGTAGAAGGGCTTCATGTGCTGGTACCAATAGGACAGGAAGATTTTAATCAGCTTTACTATCTATGTTTTTTTATGGAAACTGTGTGTATGTATACATACATTTTCCAAAAAGAAAAATTAAATGATTATAGAGATTATGTTTTTCAGACTACTCACGTATCTGCTTTTCTTACTCCCCACCTCTGCTGATAATTCCTAGTTCATTGGTTTTTCCCCCACACTGGAATTACCTGGGGAGCTTAAAAAACCCTGATGCCTGGGTCCCACCCTCAGAGATGATTGAACCAGCCTGGCCAGCATGGCAAAACCCTGTCTCTACTATGATATGAATGCAGCCTGGGCACTGGGAAATTTAAAAACTCCCCAGATAATTCTGTGCAGCCAAGGTTGAGACCTCCTAGTCTAGAGCTTTGCTATACACAGGGTGGTCCACAAGCCAGGAGCATCAGCATCACTTGGCAGCGCCTTAGAGATTCAGACCCCAGACCCACTGAATCTGACCCTGCATTTTCACTAGACCCCAGGTGATCAGCTGCACTAGACTCAACCTCTAAACCAAGACCTCCCACCCTCACAGT
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GAAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTCAGCCCACATGTTACCTCCTCAGGAAGGCCTTCCTTGACTCTCACTCAGACTCAGCCCCTCATGCTGTTTGCTGCCATTATAACTTGCAACTTTCTTTTTTGTCTTCTTCTTCAGTTTGTAACTGAGCATTTGTTTGGGTGATTATGTAACTGATATTTGTCTCCTCTGCTCAACAGTAAGCTCTGTAGGAGTGGAGGCTGCTCTGTTTTATCTCTGCTGTATCCCCCGCACGTCTCCTGTTGTCAGACCCAGAGTGGGCACTTCGCGTGCATTCAATGAATGAATCCAAAATGAGTAAACCTCCCTGAGTCCATGCCAGCCAAGCATGCATTTCTCAAGACTCACAAATCTGTGGGTGAGAGAAATCACCCAGTCTCACTTTGGAGTCCGACTGGCTTAAACTTAGCTCCACCACTTCCTGCAGGAACTTGGGCACGTGACTTAGCCTGTCTCTGTGTCTGTGACAATAGGCCTACTTTTGAGGGTTTAAATGAGCTCTTACGGTGGGTGCATCTGCTGTGGGCCTGCGCACTACAGCTCTCCTGCCTTTTCCCTGCATGCCGGAGGCCTCCTCTCCCTGTCCTGATGGCTGGCTGTGGATTCTCTTTTACTTCTAGGACTCTAATCCCTTTGCTTCCCTTGTCTTCTACTGGGAGCCACTTAACCGTCAGGTGAGTGAATTTTCCCAGGACAGCCTGGGATGGGCTGGGTTGGCAGGGCCTGAGTTTATGGCTACGTCTAGCGAAGGTCCCCAGACTGGGCAAACATCCCAGCTGGGCACTCTGCCTCTAAAATAGCCCTCAGTTAGTTGGAGCCAAGAGTGGTGGGGCAGCCGATCGAACAGAGAGGAACGGGGCCTGTGCTGGTAGGGAGGGCAGGTGGCATTTAATGCCATTCACCCAGAGCCATCCCTGAGCAGGTGCGTGTGGAAGGCCCTGTGAAGAAACTGCCTGAGGAGGAGGCTGAGTGCTACTTCCACTCCCGCCCCAAGAGCAGCCAGATTGGGGCTGTGGTCAGCCACCAGAGTTCTGTGATCCCTGATCGGGAGGTGAGTGGAGCTCCGCTGTAGTCCTCCAGGTGGTGGAGGCTTTGGCTTATCCCCAGAAGCTGTCCCCAGGAGATGCCAGGAGATGTCCCCAGGAGATGTCCTCTCTCTCCAGCCCAGTGAAAACAGTGAAAAGGACAGTGAGAAGGGAAAGTGGGGGTAGGGAGAGGGGAAATAGGCCTCCTCTGTCCATCTGGCCATCCTGTTGACTGCTCCTGGAGGACAGAGGCCAGTCTGCTCTGCTCACCCATGTCCCCAGCACATATCCCCAGGAAGTCCTTGTTAATGAATCATTGACTGGGCCTGGCCCTTCTTCTAACTCTTCCCCCTGGACAGTATCTGAGAAAGAAAAATGAGGAACTGGAACAGCTCTACCAGGATCAAGAGGTGCCCAAGCCAAAATCCTGGTGAGTGACATCTGGTAGTCCTCTAGAAAGGGACACCAGGCCCCTGTGTTTACTTGAAGCCACCTGCCTGGGGAATCACAGATCTCCTCCTCCCTGGCCACCCTTGTCAGATGCATCCCAGCAACTTCCTTCAAGAGGCCCTGGGATGAGGGGTGAGGGTGGGAGAGTGACCTGGCTAGAAAACTCCACAGAGCACTGAAACCTCTGCTTCTCCTTATAGGGGTGGCTATGTCCTGTACCCTCAGGTGATGGAGTTCTGGCAAGGTCAAACCAACTGCCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACCCACAGGAGATTCCCCTTTGGGGCCCATGACCCACCGCGGGGAGGAAGACTGGCTCTATGAGAGACTTGCACCTTAACTCTGGGACCTGCTGGCCCAGAGTGGAGCTAGGGCTAGGTGTCAAGAGAGGGTGTGGGATTGGGACCCAGGCCCTTCTTTCTAAACTCAACCCATTTCCCTCCCTACCCCTTATCTTCAGGACTCTTCAGAGCTAATCCTCTAAGTTCTCTGTACTCAGTTGGTTCTCAGTTAGCTGGTCAAGTGGAGTGTAATGGTGGCGTAGAGAATCACAAATGGAAAATAATTCCATAATTATTTTTTTGACCTTGCCTATGATTGATTAGGATAGCTCCCTCTAGGGGTAGCAGCCGGTGTGACTCCCTTTCTGGTGACAGACAGGGCCCCAGCAGCCCTGTCTGTTACCATGTGAGTCATACTGGCCAAAGCTTAGTCCTAGCATATGCACCTGAGCCAACCTGGCCAATCAGATTGTTTTGTCAATAATTTGAAATTTGAACTGGAGAGATCCAGAACCTTGGGAGTCATTAAAGCCAAGTCATTCATAGCAGCCAGGAAACAATAGGAACCAAAAGCCTCTGCCTGCTGCTATTGCAATTCCCAGGATCTCTCCTTCCCTGGATCCCTCCCTCCCAGGTCTGGGCTGTGCAGTTCCTCCCCCTGCCTTAAAACACCCCACTATCTCTGTAAAGTCTCTCTCTCTCTTTTTTTTTTTTTTACTTAATCTAGCTAGAATCTATTTCTGTTGATTACAACTTAACTAACTCATTTACGGATAGGACTTTTTTTTTTCTTTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATTGTCTCCATCTCTTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCGAGACGGGGTTTCATTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTAAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCTTGGCCGGGATAGTATATTTTTATAGCACTTCCCCTACTGATTGCTGCCTTCTCTGTGGCTACAAGGGACCCACAGAATTACAGGGAAGTTACAGGGAAGCAGGTTTCATCTCAATATTGGGAGAGATTTCAAACAATCACACCTGCCTGAGAAGGAGTGGGCTGTCACTAGGAATTTTTATTCCCAGTCCGTCAGGAATTTTGTAGAAGGGCTTCATGTGCTGGTACCAATAGGACAGGAAGATTTTAATCAGCTTTACTATCTATGTTTTTTTATGGAAACTGTGTGTATGTATACATACATTTTCCAAAAAGAAAAATTAAATGATTATAGAGATTATGTTTTTCAGACTACTCACGTATCTGCTTTTCTTACTCCCCACCTCTGCTGATAATTCCTAGTTCATTGGTTTTTCCCCCACACTGGAATTACCTGGGGAGCTTAAAAAACCCTGATGCCTGGGTCCCACCCTCAGAGATGATTGAACCAGCCTGGCCAGCATGGCAAAACCCTGTCTCTACTATGATATGAATGCAGCCTGGGCACTGGGAAATTTAAAAACTCCCCAGATAATTCTGTGCAGCCAAGGTTGAGACCTCCTAGTCTAGAGCTTTGCTATACACAGGGTGGTCCACAAGCCAGGAGCATCAGCATCACTTGGCAGCGCCTTAGAGATTCAGACCCCAGACCCACTGAATCTGACCCTGCATTTTCACTAGACCCCAGGTGATCAGCTGCACTAGACTCAACCTCTAAACCAAGACCTCCCACCCTCACAGT
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Task1_train_24857
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This variant affects the gene PNPO (pyridoxamine 5'-phosphate oxidase) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Neuronopathy, distal hereditary motor, type 5A
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AAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTCAGCCCACATGTTACCTCCTCAGGAAGGCCTTCCTTGACTCTCACTCAGACTCAGCCCCTCATGCTGTTTGCTGCCATTATAACTTGCAACTTTCTTTTTTGTCTTCTTCTTCAGTTTGTAACTGAGCATTTGTTTGGGTGATTATGTAACTGATATTTGTCTCCTCTGCTCAACAGTAAGCTCTGTAGGAGTGGAGGCTGCTCTGTTTTATCTCTGCTGTATCCCCCGCACGTCTCCTGTTGTCAGACCCAGAGTGGGCACTTCGCGTGCATTCAATGAATGAATCCAAAATGAGTAAACCTCCCTGAGTCCATGCCAGCCAAGCATGCATTTCTCAAGACTCACAAATCTGTGGGTGAGAGAAATCACCCAGTCTCACTTTGGAGTCCGACTGGCTTAAACTTAGCTCCACCACTTCCTGCAGGAACTTGGGCACGTGACTTAGCCTGTCTCTGTGTCTGTGACAATAGGCCTACTTTTGAGGGTTTAAATGAGCTCTTACGGTGGGTGCATCTGCTGTGGGCCTGCGCACTACAGCTCTCCTGCCTTTTCCCTGCATGCCGGAGGCCTCCTCTCCCTGTCCTGATGGCTGGCTGTGGATTCTCTTTTACTTCTAGGACTCTAATCCCTTTGCTTCCCTTGTCTTCTACTGGGAGCCACTTAACCGTCAGGTGAGTGAATTTTCCCAGGACAGCCTGGGATGGGCTGGGTTGGCAGGGCCTGAGTTTATGGCTACGTCTAGCGAAGGTCCCCAGACTGGGCAAACATCCCAGCTGGGCACTCTGCCTCTAAAATAGCCCTCAGTTAGTTGGAGCCAAGAGTGGTGGGGCAGCCGATCGAACAGAGAGGAACGGGGCCTGTGCTGGTAGGGAGGGCAGGTGGCATTTAATGCCATTCACCCAGAGCCATCCCTGAGCAGGTGCGTGTGGAAGGCCCTGTGAAGAAACTGCCTGAGGAGGAGGCTGAGTGCTACTTCCACTCCCGCCCCAAGAGCAGCCAGATTGGGGCTGTGGTCAGCCACCAGAGTTCTGTGATCCCTGATCGGGAGGTGAGTGGAGCTCCGCTGTAGTCCTCCAGGTGGTGGAGGCTTTGGCTTATCCCCAGAAGCTGTCCCCAGGAGATGCCAGGAGATGTCCCCAGGAGATGTCCTCTCTCTCCAGCCCAGTGAAAACAGTGAAAAGGACAGTGAGAAGGGAAAGTGGGGGTAGGGAGAGGGGAAATAGGCCTCCTCTGTCCATCTGGCCATCCTGTTGACTGCTCCTGGAGGACAGAGGCCAGTCTGCTCTGCTCACCCATGTCCCCAGCACATATCCCCAGGAAGTCCTTGTTAATGAATCATTGACTGGGCCTGGCCCTTCTTCTAACTCTTCCCCCTGGACAGTATCTGAGAAAGAAAAATGAGGAACTGGAACAGCTCTACCAGGATCAAGAGGTGCCCAAGCCAAAATCCTGGTGAGTGACATCTGGTAGTCCTCTAGAAAGGGACACCAGGCCCCTGTGTTTACTTGAAGCCACCTGCCTGGGGAATCACAGATCTCCTCCTCCCTGGCCACCCTTGTCAGATGCATCCCAGCAACTTCCTTCAAGAGGCCCTGGGATGAGGGGTGAGGGTGGGAGAGTGACCTGGCTAGAAAACTCCACAGAGCACTGAAACCTCTGCTTCTCCTTATAGGGGTGGCTATGTCCTGTACCCTCAGGTGATGGAGTTCTGGCAAGGTCAAACCAACCGCCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACCCACAGGAGATTCCCCTTTGGGGCCCATGACCCACCGCGGGGAGGAAGACTGGCTCTATGAGAGACTTGCACCTTAACTCTGGGACCTGCTGGCCCAGAGTGGAGCTAGGGCTAGGTGTCAAGAGAGGGTGTGGGATTGGGACCCAGGCCCTTCTTTCTAAACTCAACCCATTTCCCTCCCTACCCCTTATCTTCAGGACTCTTCAGAGCTAATCCTCTAAGTTCTCTGTACTCAGTTGGTTCTCAGTTAGCTGGTCAAGTGGAGTGTAATGGTGGCGTAGAGAATCACAAATGGAAAATAATTCCATAATTATTTTTTTGACCTTGCCTATGATTGATTAGGATAGCTCCCTCTAGGGGTAGCAGCCGGTGTGACTCCCTTTCTGGTGACAGACAGGGCCCCAGCAGCCCTGTCTGTTACCATGTGAGTCATACTGGCCAAAGCTTAGTCCTAGCATATGCACCTGAGCCAACCTGGCCAATCAGATTGTTTTGTCAATAATTTGAAATTTGAACTGGAGAGATCCAGAACCTTGGGAGTCATTAAAGCCAAGTCATTCATAGCAGCCAGGAAACAATAGGAACCAAAAGCCTCTGCCTGCTGCTATTGCAATTCCCAGGATCTCTCCTTCCCTGGATCCCTCCCTCCCAGGTCTGGGCTGTGCAGTTCCTCCCCCTGCCTTAAAACACCCCACTATCTCTGTAAAGTCTCTCTCTCTCTTTTTTTTTTTTTTACTTAATCTAGCTAGAATCTATTTCTGTTGATTACAACTTAACTAACTCATTTACGGATAGGACTTTTTTTTTTCTTTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATTGTCTCCATCTCTTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCGAGACGGGGTTTCATTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTAAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCTTGGCCGGGATAGTATATTTTTATAGCACTTCCCCTACTGATTGCTGCCTTCTCTGTGGCTACAAGGGACCCACAGAATTACAGGGAAGTTACAGGGAAGCAGGTTTCATCTCAATATTGGGAGAGATTTCAAACAATCACACCTGCCTGAGAAGGAGTGGGCTGTCACTAGGAATTTTTATTCCCAGTCCGTCAGGAATTTTGTAGAAGGGCTTCATGTGCTGGTACCAATAGGACAGGAAGATTTTAATCAGCTTTACTATCTATGTTTTTTTATGGAAACTGTGTGTATGTATACATACATTTTCCAAAAAGAAAAATTAAATGATTATAGAGATTATGTTTTTCAGACTACTCACGTATCTGCTTTTCTTACTCCCCACCTCTGCTGATAATTCCTAGTTCATTGGTTTTTCCCCCACACTGGAATTACCTGGGGAGCTTAAAAAACCCTGATGCCTGGGTCCCACCCTCAGAGATGATTGAACCAGCCTGGCCAGCATGGCAAAACCCTGTCTCTACTATGATATGAATGCAGCCTGGGCACTGGGAAATTTAAAAACTCCCCAGATAATTCTGTGCAGCCAAGGTTGAGACCTCCTAGTCTAGAGCTTTGCTATACACAGGGTGGTCCACAAGCCAGGAGCATCAGCATCACTTGGCAGCGCCTTAGAGATTCAGACCCCAGACCCACTGAATCTGACCCTGCATTTTCACTAGACCCCAGGTGATCAGCTGCACTAGACTCAACCTCTAAACCAAGACCTCCCACCCTCACAGTC
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AAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTCAGCCCACATGTTACCTCCTCAGGAAGGCCTTCCTTGACTCTCACTCAGACTCAGCCCCTCATGCTGTTTGCTGCCATTATAACTTGCAACTTTCTTTTTTGTCTTCTTCTTCAGTTTGTAACTGAGCATTTGTTTGGGTGATTATGTAACTGATATTTGTCTCCTCTGCTCAACAGTAAGCTCTGTAGGAGTGGAGGCTGCTCTGTTTTATCTCTGCTGTATCCCCCGCACGTCTCCTGTTGTCAGACCCAGAGTGGGCACTTCGCGTGCATTCAATGAATGAATCCAAAATGAGTAAACCTCCCTGAGTCCATGCCAGCCAAGCATGCATTTCTCAAGACTCACAAATCTGTGGGTGAGAGAAATCACCCAGTCTCACTTTGGAGTCCGACTGGCTTAAACTTAGCTCCACCACTTCCTGCAGGAACTTGGGCACGTGACTTAGCCTGTCTCTGTGTCTGTGACAATAGGCCTACTTTTGAGGGTTTAAATGAGCTCTTACGGTGGGTGCATCTGCTGTGGGCCTGCGCACTACAGCTCTCCTGCCTTTTCCCTGCATGCCGGAGGCCTCCTCTCCCTGTCCTGATGGCTGGCTGTGGATTCTCTTTTACTTCTAGGACTCTAATCCCTTTGCTTCCCTTGTCTTCTACTGGGAGCCACTTAACCGTCAGGTGAGTGAATTTTCCCAGGACAGCCTGGGATGGGCTGGGTTGGCAGGGCCTGAGTTTATGGCTACGTCTAGCGAAGGTCCCCAGACTGGGCAAACATCCCAGCTGGGCACTCTGCCTCTAAAATAGCCCTCAGTTAGTTGGAGCCAAGAGTGGTGGGGCAGCCGATCGAACAGAGAGGAACGGGGCCTGTGCTGGTAGGGAGGGCAGGTGGCATTTAATGCCATTCACCCAGAGCCATCCCTGAGCAGGTGCGTGTGGAAGGCCCTGTGAAGAAACTGCCTGAGGAGGAGGCTGAGTGCTACTTCCACTCCCGCCCCAAGAGCAGCCAGATTGGGGCTGTGGTCAGCCACCAGAGTTCTGTGATCCCTGATCGGGAGGTGAGTGGAGCTCCGCTGTAGTCCTCCAGGTGGTGGAGGCTTTGGCTTATCCCCAGAAGCTGTCCCCAGGAGATGCCAGGAGATGTCCCCAGGAGATGTCCTCTCTCTCCAGCCCAGTGAAAACAGTGAAAAGGACAGTGAGAAGGGAAAGTGGGGGTAGGGAGAGGGGAAATAGGCCTCCTCTGTCCATCTGGCCATCCTGTTGACTGCTCCTGGAGGACAGAGGCCAGTCTGCTCTGCTCACCCATGTCCCCAGCACATATCCCCAGGAAGTCCTTGTTAATGAATCATTGACTGGGCCTGGCCCTTCTTCTAACTCTTCCCCCTGGACAGTATCTGAGAAAGAAAAATGAGGAACTGGAACAGCTCTACCAGGATCAAGAGGTGCCCAAGCCAAAATCCTGGTGAGTGACATCTGGTAGTCCTCTAGAAAGGGACACCAGGCCCCTGTGTTTACTTGAAGCCACCTGCCTGGGGAATCACAGATCTCCTCCTCCCTGGCCACCCTTGTCAGATGCATCCCAGCAACTTCCTTCAAGAGGCCCTGGGATGAGGGGTGAGGGTGGGAGAGTGACCTGGCTAGAAAACTCCACAGAGCACTGAAACCTCTGCTTCTCCTTATAGGGGTGGCTATGTCCTGTACCCTCAGGTGATGGAGTTCTGGCAAGGTCAAACCAACCACCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACCCACAGGAGATTCCCCTTTGGGGCCCATGACCCACCGCGGGGAGGAAGACTGGCTCTATGAGAGACTTGCACCTTAACTCTGGGACCTGCTGGCCCAGAGTGGAGCTAGGGCTAGGTGTCAAGAGAGGGTGTGGGATTGGGACCCAGGCCCTTCTTTCTAAACTCAACCCATTTCCCTCCCTACCCCTTATCTTCAGGACTCTTCAGAGCTAATCCTCTAAGTTCTCTGTACTCAGTTGGTTCTCAGTTAGCTGGTCAAGTGGAGTGTAATGGTGGCGTAGAGAATCACAAATGGAAAATAATTCCATAATTATTTTTTTGACCTTGCCTATGATTGATTAGGATAGCTCCCTCTAGGGGTAGCAGCCGGTGTGACTCCCTTTCTGGTGACAGACAGGGCCCCAGCAGCCCTGTCTGTTACCATGTGAGTCATACTGGCCAAAGCTTAGTCCTAGCATATGCACCTGAGCCAACCTGGCCAATCAGATTGTTTTGTCAATAATTTGAAATTTGAACTGGAGAGATCCAGAACCTTGGGAGTCATTAAAGCCAAGTCATTCATAGCAGCCAGGAAACAATAGGAACCAAAAGCCTCTGCCTGCTGCTATTGCAATTCCCAGGATCTCTCCTTCCCTGGATCCCTCCCTCCCAGGTCTGGGCTGTGCAGTTCCTCCCCCTGCCTTAAAACACCCCACTATCTCTGTAAAGTCTCTCTCTCTCTTTTTTTTTTTTTTACTTAATCTAGCTAGAATCTATTTCTGTTGATTACAACTTAACTAACTCATTTACGGATAGGACTTTTTTTTTTCTTTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATTGTCTCCATCTCTTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCGAGACGGGGTTTCATTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTAAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCTTGGCCGGGATAGTATATTTTTATAGCACTTCCCCTACTGATTGCTGCCTTCTCTGTGGCTACAAGGGACCCACAGAATTACAGGGAAGTTACAGGGAAGCAGGTTTCATCTCAATATTGGGAGAGATTTCAAACAATCACACCTGCCTGAGAAGGAGTGGGCTGTCACTAGGAATTTTTATTCCCAGTCCGTCAGGAATTTTGTAGAAGGGCTTCATGTGCTGGTACCAATAGGACAGGAAGATTTTAATCAGCTTTACTATCTATGTTTTTTTATGGAAACTGTGTGTATGTATACATACATTTTCCAAAAAGAAAAATTAAATGATTATAGAGATTATGTTTTTCAGACTACTCACGTATCTGCTTTTCTTACTCCCCACCTCTGCTGATAATTCCTAGTTCATTGGTTTTTCCCCCACACTGGAATTACCTGGGGAGCTTAAAAAACCCTGATGCCTGGGTCCCACCCTCAGAGATGATTGAACCAGCCTGGCCAGCATGGCAAAACCCTGTCTCTACTATGATATGAATGCAGCCTGGGCACTGGGAAATTTAAAAACTCCCCAGATAATTCTGTGCAGCCAAGGTTGAGACCTCCTAGTCTAGAGCTTTGCTATACACAGGGTGGTCCACAAGCCAGGAGCATCAGCATCACTTGGCAGCGCCTTAGAGATTCAGACCCCAGACCCACTGAATCTGACCCTGCATTTTCACTAGACCCCAGGTGATCAGCTGCACTAGACTCAACCTCTAAACCAAGACCTCCCACCCTCACAGTC
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Task1_train_24858
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A variant was discovered on Chromosome 17, affecting PNPO (pyridoxamine 5'-phosphate oxidase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Pyridoxal phosphate-responsive seizures
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AAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTCAGCCCACATGTTACCTCCTCAGGAAGGCCTTCCTTGACTCTCACTCAGACTCAGCCCCTCATGCTGTTTGCTGCCATTATAACTTGCAACTTTCTTTTTTGTCTTCTTCTTCAGTTTGTAACTGAGCATTTGTTTGGGTGATTATGTAACTGATATTTGTCTCCTCTGCTCAACAGTAAGCTCTGTAGGAGTGGAGGCTGCTCTGTTTTATCTCTGCTGTATCCCCCGCACGTCTCCTGTTGTCAGACCCAGAGTGGGCACTTCGCGTGCATTCAATGAATGAATCCAAAATGAGTAAACCTCCCTGAGTCCATGCCAGCCAAGCATGCATTTCTCAAGACTCACAAATCTGTGGGTGAGAGAAATCACCCAGTCTCACTTTGGAGTCCGACTGGCTTAAACTTAGCTCCACCACTTCCTGCAGGAACTTGGGCACGTGACTTAGCCTGTCTCTGTGTCTGTGACAATAGGCCTACTTTTGAGGGTTTAAATGAGCTCTTACGGTGGGTGCATCTGCTGTGGGCCTGCGCACTACAGCTCTCCTGCCTTTTCCCTGCATGCCGGAGGCCTCCTCTCCCTGTCCTGATGGCTGGCTGTGGATTCTCTTTTACTTCTAGGACTCTAATCCCTTTGCTTCCCTTGTCTTCTACTGGGAGCCACTTAACCGTCAGGTGAGTGAATTTTCCCAGGACAGCCTGGGATGGGCTGGGTTGGCAGGGCCTGAGTTTATGGCTACGTCTAGCGAAGGTCCCCAGACTGGGCAAACATCCCAGCTGGGCACTCTGCCTCTAAAATAGCCCTCAGTTAGTTGGAGCCAAGAGTGGTGGGGCAGCCGATCGAACAGAGAGGAACGGGGCCTGTGCTGGTAGGGAGGGCAGGTGGCATTTAATGCCATTCACCCAGAGCCATCCCTGAGCAGGTGCGTGTGGAAGGCCCTGTGAAGAAACTGCCTGAGGAGGAGGCTGAGTGCTACTTCCACTCCCGCCCCAAGAGCAGCCAGATTGGGGCTGTGGTCAGCCACCAGAGTTCTGTGATCCCTGATCGGGAGGTGAGTGGAGCTCCGCTGTAGTCCTCCAGGTGGTGGAGGCTTTGGCTTATCCCCAGAAGCTGTCCCCAGGAGATGCCAGGAGATGTCCCCAGGAGATGTCCTCTCTCTCCAGCCCAGTGAAAACAGTGAAAAGGACAGTGAGAAGGGAAAGTGGGGGTAGGGAGAGGGGAAATAGGCCTCCTCTGTCCATCTGGCCATCCTGTTGACTGCTCCTGGAGGACAGAGGCCAGTCTGCTCTGCTCACCCATGTCCCCAGCACATATCCCCAGGAAGTCCTTGTTAATGAATCATTGACTGGGCCTGGCCCTTCTTCTAACTCTTCCCCCTGGACAGTATCTGAGAAAGAAAAATGAGGAACTGGAACAGCTCTACCAGGATCAAGAGGTGCCCAAGCCAAAATCCTGGTGAGTGACATCTGGTAGTCCTCTAGAAAGGGACACCAGGCCCCTGTGTTTACTTGAAGCCACCTGCCTGGGGAATCACAGATCTCCTCCTCCCTGGCCACCCTTGTCAGATGCATCCCAGCAACTTCCTTCAAGAGGCCCTGGGATGAGGGGTGAGGGTGGGAGAGTGACCTGGCTAGAAAACTCCACAGAGCACTGAAACCTCTGCTTCTCCTTATAGGGGTGGCTATGTCCTGTACCCTCAGGTGATGGAGTTCTGGCAAGGTCAAACCAACCGCCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACCCACAGGAGATTCCCCTTTGGGGCCCATGACCCACCGCGGGGAGGAAGACTGGCTCTATGAGAGACTTGCACCTTAACTCTGGGACCTGCTGGCCCAGAGTGGAGCTAGGGCTAGGTGTCAAGAGAGGGTGTGGGATTGGGACCCAGGCCCTTCTTTCTAAACTCAACCCATTTCCCTCCCTACCCCTTATCTTCAGGACTCTTCAGAGCTAATCCTCTAAGTTCTCTGTACTCAGTTGGTTCTCAGTTAGCTGGTCAAGTGGAGTGTAATGGTGGCGTAGAGAATCACAAATGGAAAATAATTCCATAATTATTTTTTTGACCTTGCCTATGATTGATTAGGATAGCTCCCTCTAGGGGTAGCAGCCGGTGTGACTCCCTTTCTGGTGACAGACAGGGCCCCAGCAGCCCTGTCTGTTACCATGTGAGTCATACTGGCCAAAGCTTAGTCCTAGCATATGCACCTGAGCCAACCTGGCCAATCAGATTGTTTTGTCAATAATTTGAAATTTGAACTGGAGAGATCCAGAACCTTGGGAGTCATTAAAGCCAAGTCATTCATAGCAGCCAGGAAACAATAGGAACCAAAAGCCTCTGCCTGCTGCTATTGCAATTCCCAGGATCTCTCCTTCCCTGGATCCCTCCCTCCCAGGTCTGGGCTGTGCAGTTCCTCCCCCTGCCTTAAAACACCCCACTATCTCTGTAAAGTCTCTCTCTCTCTTTTTTTTTTTTTTACTTAATCTAGCTAGAATCTATTTCTGTTGATTACAACTTAACTAACTCATTTACGGATAGGACTTTTTTTTTTCTTTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATTGTCTCCATCTCTTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCGAGACGGGGTTTCATTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTAAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCTTGGCCGGGATAGTATATTTTTATAGCACTTCCCCTACTGATTGCTGCCTTCTCTGTGGCTACAAGGGACCCACAGAATTACAGGGAAGTTACAGGGAAGCAGGTTTCATCTCAATATTGGGAGAGATTTCAAACAATCACACCTGCCTGAGAAGGAGTGGGCTGTCACTAGGAATTTTTATTCCCAGTCCGTCAGGAATTTTGTAGAAGGGCTTCATGTGCTGGTACCAATAGGACAGGAAGATTTTAATCAGCTTTACTATCTATGTTTTTTTATGGAAACTGTGTGTATGTATACATACATTTTCCAAAAAGAAAAATTAAATGATTATAGAGATTATGTTTTTCAGACTACTCACGTATCTGCTTTTCTTACTCCCCACCTCTGCTGATAATTCCTAGTTCATTGGTTTTTCCCCCACACTGGAATTACCTGGGGAGCTTAAAAAACCCTGATGCCTGGGTCCCACCCTCAGAGATGATTGAACCAGCCTGGCCAGCATGGCAAAACCCTGTCTCTACTATGATATGAATGCAGCCTGGGCACTGGGAAATTTAAAAACTCCCCAGATAATTCTGTGCAGCCAAGGTTGAGACCTCCTAGTCTAGAGCTTTGCTATACACAGGGTGGTCCACAAGCCAGGAGCATCAGCATCACTTGGCAGCGCCTTAGAGATTCAGACCCCAGACCCACTGAATCTGACCCTGCATTTTCACTAGACCCCAGGTGATCAGCTGCACTAGACTCAACCTCTAAACCAAGACCTCCCACCCTCACAGTC
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AAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTCAGCCCACATGTTACCTCCTCAGGAAGGCCTTCCTTGACTCTCACTCAGACTCAGCCCCTCATGCTGTTTGCTGCCATTATAACTTGCAACTTTCTTTTTTGTCTTCTTCTTCAGTTTGTAACTGAGCATTTGTTTGGGTGATTATGTAACTGATATTTGTCTCCTCTGCTCAACAGTAAGCTCTGTAGGAGTGGAGGCTGCTCTGTTTTATCTCTGCTGTATCCCCCGCACGTCTCCTGTTGTCAGACCCAGAGTGGGCACTTCGCGTGCATTCAATGAATGAATCCAAAATGAGTAAACCTCCCTGAGTCCATGCCAGCCAAGCATGCATTTCTCAAGACTCACAAATCTGTGGGTGAGAGAAATCACCCAGTCTCACTTTGGAGTCCGACTGGCTTAAACTTAGCTCCACCACTTCCTGCAGGAACTTGGGCACGTGACTTAGCCTGTCTCTGTGTCTGTGACAATAGGCCTACTTTTGAGGGTTTAAATGAGCTCTTACGGTGGGTGCATCTGCTGTGGGCCTGCGCACTACAGCTCTCCTGCCTTTTCCCTGCATGCCGGAGGCCTCCTCTCCCTGTCCTGATGGCTGGCTGTGGATTCTCTTTTACTTCTAGGACTCTAATCCCTTTGCTTCCCTTGTCTTCTACTGGGAGCCACTTAACCGTCAGGTGAGTGAATTTTCCCAGGACAGCCTGGGATGGGCTGGGTTGGCAGGGCCTGAGTTTATGGCTACGTCTAGCGAAGGTCCCCAGACTGGGCAAACATCCCAGCTGGGCACTCTGCCTCTAAAATAGCCCTCAGTTAGTTGGAGCCAAGAGTGGTGGGGCAGCCGATCGAACAGAGAGGAACGGGGCCTGTGCTGGTAGGGAGGGCAGGTGGCATTTAATGCCATTCACCCAGAGCCATCCCTGAGCAGGTGCGTGTGGAAGGCCCTGTGAAGAAACTGCCTGAGGAGGAGGCTGAGTGCTACTTCCACTCCCGCCCCAAGAGCAGCCAGATTGGGGCTGTGGTCAGCCACCAGAGTTCTGTGATCCCTGATCGGGAGGTGAGTGGAGCTCCGCTGTAGTCCTCCAGGTGGTGGAGGCTTTGGCTTATCCCCAGAAGCTGTCCCCAGGAGATGCCAGGAGATGTCCCCAGGAGATGTCCTCTCTCTCCAGCCCAGTGAAAACAGTGAAAAGGACAGTGAGAAGGGAAAGTGGGGGTAGGGAGAGGGGAAATAGGCCTCCTCTGTCCATCTGGCCATCCTGTTGACTGCTCCTGGAGGACAGAGGCCAGTCTGCTCTGCTCACCCATGTCCCCAGCACATATCCCCAGGAAGTCCTTGTTAATGAATCATTGACTGGGCCTGGCCCTTCTTCTAACTCTTCCCCCTGGACAGTATCTGAGAAAGAAAAATGAGGAACTGGAACAGCTCTACCAGGATCAAGAGGTGCCCAAGCCAAAATCCTGGTGAGTGACATCTGGTAGTCCTCTAGAAAGGGACACCAGGCCCCTGTGTTTACTTGAAGCCACCTGCCTGGGGAATCACAGATCTCCTCCTCCCTGGCCACCCTTGTCAGATGCATCCCAGCAACTTCCTTCAAGAGGCCCTGGGATGAGGGGTGAGGGTGGGAGAGTGACCTGGCTAGAAAACTCCACAGAGCACTGAAACCTCTGCTTCTCCTTATAGGGGTGGCTATGTCCTGTACCCTCAGGTGATGGAGTTCTGGCAAGGTCAAACCAACCACCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACCCACAGGAGATTCCCCTTTGGGGCCCATGACCCACCGCGGGGAGGAAGACTGGCTCTATGAGAGACTTGCACCTTAACTCTGGGACCTGCTGGCCCAGAGTGGAGCTAGGGCTAGGTGTCAAGAGAGGGTGTGGGATTGGGACCCAGGCCCTTCTTTCTAAACTCAACCCATTTCCCTCCCTACCCCTTATCTTCAGGACTCTTCAGAGCTAATCCTCTAAGTTCTCTGTACTCAGTTGGTTCTCAGTTAGCTGGTCAAGTGGAGTGTAATGGTGGCGTAGAGAATCACAAATGGAAAATAATTCCATAATTATTTTTTTGACCTTGCCTATGATTGATTAGGATAGCTCCCTCTAGGGGTAGCAGCCGGTGTGACTCCCTTTCTGGTGACAGACAGGGCCCCAGCAGCCCTGTCTGTTACCATGTGAGTCATACTGGCCAAAGCTTAGTCCTAGCATATGCACCTGAGCCAACCTGGCCAATCAGATTGTTTTGTCAATAATTTGAAATTTGAACTGGAGAGATCCAGAACCTTGGGAGTCATTAAAGCCAAGTCATTCATAGCAGCCAGGAAACAATAGGAACCAAAAGCCTCTGCCTGCTGCTATTGCAATTCCCAGGATCTCTCCTTCCCTGGATCCCTCCCTCCCAGGTCTGGGCTGTGCAGTTCCTCCCCCTGCCTTAAAACACCCCACTATCTCTGTAAAGTCTCTCTCTCTCTTTTTTTTTTTTTTACTTAATCTAGCTAGAATCTATTTCTGTTGATTACAACTTAACTAACTCATTTACGGATAGGACTTTTTTTTTTCTTTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATTGTCTCCATCTCTTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCGAGACGGGGTTTCATTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTAAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCTTGGCCGGGATAGTATATTTTTATAGCACTTCCCCTACTGATTGCTGCCTTCTCTGTGGCTACAAGGGACCCACAGAATTACAGGGAAGTTACAGGGAAGCAGGTTTCATCTCAATATTGGGAGAGATTTCAAACAATCACACCTGCCTGAGAAGGAGTGGGCTGTCACTAGGAATTTTTATTCCCAGTCCGTCAGGAATTTTGTAGAAGGGCTTCATGTGCTGGTACCAATAGGACAGGAAGATTTTAATCAGCTTTACTATCTATGTTTTTTTATGGAAACTGTGTGTATGTATACATACATTTTCCAAAAAGAAAAATTAAATGATTATAGAGATTATGTTTTTCAGACTACTCACGTATCTGCTTTTCTTACTCCCCACCTCTGCTGATAATTCCTAGTTCATTGGTTTTTCCCCCACACTGGAATTACCTGGGGAGCTTAAAAAACCCTGATGCCTGGGTCCCACCCTCAGAGATGATTGAACCAGCCTGGCCAGCATGGCAAAACCCTGTCTCTACTATGATATGAATGCAGCCTGGGCACTGGGAAATTTAAAAACTCCCCAGATAATTCTGTGCAGCCAAGGTTGAGACCTCCTAGTCTAGAGCTTTGCTATACACAGGGTGGTCCACAAGCCAGGAGCATCAGCATCACTTGGCAGCGCCTTAGAGATTCAGACCCCAGACCCACTGAATCTGACCCTGCATTTTCACTAGACCCCAGGTGATCAGCTGCACTAGACTCAACCTCTAAACCAAGACCTCCCACCCTCACAGTC
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Task1_train_24859
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Here is a genetic alteration in PNPO (pyridoxamine 5'-phosphate oxidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Pyridoxal phosphate-responsive seizures
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AAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTCAGCCCACATGTTACCTCCTCAGGAAGGCCTTCCTTGACTCTCACTCAGACTCAGCCCCTCATGCTGTTTGCTGCCATTATAACTTGCAACTTTCTTTTTTGTCTTCTTCTTCAGTTTGTAACTGAGCATTTGTTTGGGTGATTATGTAACTGATATTTGTCTCCTCTGCTCAACAGTAAGCTCTGTAGGAGTGGAGGCTGCTCTGTTTTATCTCTGCTGTATCCCCCGCACGTCTCCTGTTGTCAGACCCAGAGTGGGCACTTCGCGTGCATTCAATGAATGAATCCAAAATGAGTAAACCTCCCTGAGTCCATGCCAGCCAAGCATGCATTTCTCAAGACTCACAAATCTGTGGGTGAGAGAAATCACCCAGTCTCACTTTGGAGTCCGACTGGCTTAAACTTAGCTCCACCACTTCCTGCAGGAACTTGGGCACGTGACTTAGCCTGTCTCTGTGTCTGTGACAATAGGCCTACTTTTGAGGGTTTAAATGAGCTCTTACGGTGGGTGCATCTGCTGTGGGCCTGCGCACTACAGCTCTCCTGCCTTTTCCCTGCATGCCGGAGGCCTCCTCTCCCTGTCCTGATGGCTGGCTGTGGATTCTCTTTTACTTCTAGGACTCTAATCCCTTTGCTTCCCTTGTCTTCTACTGGGAGCCACTTAACCGTCAGGTGAGTGAATTTTCCCAGGACAGCCTGGGATGGGCTGGGTTGGCAGGGCCTGAGTTTATGGCTACGTCTAGCGAAGGTCCCCAGACTGGGCAAACATCCCAGCTGGGCACTCTGCCTCTAAAATAGCCCTCAGTTAGTTGGAGCCAAGAGTGGTGGGGCAGCCGATCGAACAGAGAGGAACGGGGCCTGTGCTGGTAGGGAGGGCAGGTGGCATTTAATGCCATTCACCCAGAGCCATCCCTGAGCAGGTGCGTGTGGAAGGCCCTGTGAAGAAACTGCCTGAGGAGGAGGCTGAGTGCTACTTCCACTCCCGCCCCAAGAGCAGCCAGATTGGGGCTGTGGTCAGCCACCAGAGTTCTGTGATCCCTGATCGGGAGGTGAGTGGAGCTCCGCTGTAGTCCTCCAGGTGGTGGAGGCTTTGGCTTATCCCCAGAAGCTGTCCCCAGGAGATGCCAGGAGATGTCCCCAGGAGATGTCCTCTCTCTCCAGCCCAGTGAAAACAGTGAAAAGGACAGTGAGAAGGGAAAGTGGGGGTAGGGAGAGGGGAAATAGGCCTCCTCTGTCCATCTGGCCATCCTGTTGACTGCTCCTGGAGGACAGAGGCCAGTCTGCTCTGCTCACCCATGTCCCCAGCACATATCCCCAGGAAGTCCTTGTTAATGAATCATTGACTGGGCCTGGCCCTTCTTCTAACTCTTCCCCCTGGACAGTATCTGAGAAAGAAAAATGAGGAACTGGAACAGCTCTACCAGGATCAAGAGGTGCCCAAGCCAAAATCCTGGTGAGTGACATCTGGTAGTCCTCTAGAAAGGGACACCAGGCCCCTGTGTTTACTTGAAGCCACCTGCCTGGGGAATCACAGATCTCCTCCTCCCTGGCCACCCTTGTCAGATGCATCCCAGCAACTTCCTTCAAGAGGCCCTGGGATGAGGGGTGAGGGTGGGAGAGTGACCTGGCTAGAAAACTCCACAGAGCACTGAAACCTCTGCTTCTCCTTATAGGGGTGGCTATGTCCTGTACCCTCAGGTGATGGAGTTCTGGCAAGGTCAAACCAACCGCCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACCCACAGGAGATTCCCCTTTGGGGCCCATGACCCACCGCGGGGAGGAAGACTGGCTCTATGAGAGACTTGCACCTTAACTCTGGGACCTGCTGGCCCAGAGTGGAGCTAGGGCTAGGTGTCAAGAGAGGGTGTGGGATTGGGACCCAGGCCCTTCTTTCTAAACTCAACCCATTTCCCTCCCTACCCCTTATCTTCAGGACTCTTCAGAGCTAATCCTCTAAGTTCTCTGTACTCAGTTGGTTCTCAGTTAGCTGGTCAAGTGGAGTGTAATGGTGGCGTAGAGAATCACAAATGGAAAATAATTCCATAATTATTTTTTTGACCTTGCCTATGATTGATTAGGATAGCTCCCTCTAGGGGTAGCAGCCGGTGTGACTCCCTTTCTGGTGACAGACAGGGCCCCAGCAGCCCTGTCTGTTACCATGTGAGTCATACTGGCCAAAGCTTAGTCCTAGCATATGCACCTGAGCCAACCTGGCCAATCAGATTGTTTTGTCAATAATTTGAAATTTGAACTGGAGAGATCCAGAACCTTGGGAGTCATTAAAGCCAAGTCATTCATAGCAGCCAGGAAACAATAGGAACCAAAAGCCTCTGCCTGCTGCTATTGCAATTCCCAGGATCTCTCCTTCCCTGGATCCCTCCCTCCCAGGTCTGGGCTGTGCAGTTCCTCCCCCTGCCTTAAAACACCCCACTATCTCTGTAAAGTCTCTCTCTCTCTTTTTTTTTTTTTTACTTAATCTAGCTAGAATCTATTTCTGTTGATTACAACTTAACTAACTCATTTACGGATAGGACTTTTTTTTTTCTTTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATTGTCTCCATCTCTTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCGAGACGGGGTTTCATTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTAAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCTTGGCCGGGATAGTATATTTTTATAGCACTTCCCCTACTGATTGCTGCCTTCTCTGTGGCTACAAGGGACCCACAGAATTACAGGGAAGTTACAGGGAAGCAGGTTTCATCTCAATATTGGGAGAGATTTCAAACAATCACACCTGCCTGAGAAGGAGTGGGCTGTCACTAGGAATTTTTATTCCCAGTCCGTCAGGAATTTTGTAGAAGGGCTTCATGTGCTGGTACCAATAGGACAGGAAGATTTTAATCAGCTTTACTATCTATGTTTTTTTATGGAAACTGTGTGTATGTATACATACATTTTCCAAAAAGAAAAATTAAATGATTATAGAGATTATGTTTTTCAGACTACTCACGTATCTGCTTTTCTTACTCCCCACCTCTGCTGATAATTCCTAGTTCATTGGTTTTTCCCCCACACTGGAATTACCTGGGGAGCTTAAAAAACCCTGATGCCTGGGTCCCACCCTCAGAGATGATTGAACCAGCCTGGCCAGCATGGCAAAACCCTGTCTCTACTATGATATGAATGCAGCCTGGGCACTGGGAAATTTAAAAACTCCCCAGATAATTCTGTGCAGCCAAGGTTGAGACCTCCTAGTCTAGAGCTTTGCTATACACAGGGTGGTCCACAAGCCAGGAGCATCAGCATCACTTGGCAGCGCCTTAGAGATTCAGACCCCAGACCCACTGAATCTGACCCTGCATTTTCACTAGACCCCAGGTGATCAGCTGCACTAGACTCAACCTCTAAACCAAGACCTCCCACCCTCACAGTC
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AAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTCAGCCCACATGTTACCTCCTCAGGAAGGCCTTCCTTGACTCTCACTCAGACTCAGCCCCTCATGCTGTTTGCTGCCATTATAACTTGCAACTTTCTTTTTTGTCTTCTTCTTCAGTTTGTAACTGAGCATTTGTTTGGGTGATTATGTAACTGATATTTGTCTCCTCTGCTCAACAGTAAGCTCTGTAGGAGTGGAGGCTGCTCTGTTTTATCTCTGCTGTATCCCCCGCACGTCTCCTGTTGTCAGACCCAGAGTGGGCACTTCGCGTGCATTCAATGAATGAATCCAAAATGAGTAAACCTCCCTGAGTCCATGCCAGCCAAGCATGCATTTCTCAAGACTCACAAATCTGTGGGTGAGAGAAATCACCCAGTCTCACTTTGGAGTCCGACTGGCTTAAACTTAGCTCCACCACTTCCTGCAGGAACTTGGGCACGTGACTTAGCCTGTCTCTGTGTCTGTGACAATAGGCCTACTTTTGAGGGTTTAAATGAGCTCTTACGGTGGGTGCATCTGCTGTGGGCCTGCGCACTACAGCTCTCCTGCCTTTTCCCTGCATGCCGGAGGCCTCCTCTCCCTGTCCTGATGGCTGGCTGTGGATTCTCTTTTACTTCTAGGACTCTAATCCCTTTGCTTCCCTTGTCTTCTACTGGGAGCCACTTAACCGTCAGGTGAGTGAATTTTCCCAGGACAGCCTGGGATGGGCTGGGTTGGCAGGGCCTGAGTTTATGGCTACGTCTAGCGAAGGTCCCCAGACTGGGCAAACATCCCAGCTGGGCACTCTGCCTCTAAAATAGCCCTCAGTTAGTTGGAGCCAAGAGTGGTGGGGCAGCCGATCGAACAGAGAGGAACGGGGCCTGTGCTGGTAGGGAGGGCAGGTGGCATTTAATGCCATTCACCCAGAGCCATCCCTGAGCAGGTGCGTGTGGAAGGCCCTGTGAAGAAACTGCCTGAGGAGGAGGCTGAGTGCTACTTCCACTCCCGCCCCAAGAGCAGCCAGATTGGGGCTGTGGTCAGCCACCAGAGTTCTGTGATCCCTGATCGGGAGGTGAGTGGAGCTCCGCTGTAGTCCTCCAGGTGGTGGAGGCTTTGGCTTATCCCCAGAAGCTGTCCCCAGGAGATGCCAGGAGATGTCCCCAGGAGATGTCCTCTCTCTCCAGCCCAGTGAAAACAGTGAAAAGGACAGTGAGAAGGGAAAGTGGGGGTAGGGAGAGGGGAAATAGGCCTCCTCTGTCCATCTGGCCATCCTGTTGACTGCTCCTGGAGGACAGAGGCCAGTCTGCTCTGCTCACCCATGTCCCCAGCACATATCCCCAGGAAGTCCTTGTTAATGAATCATTGACTGGGCCTGGCCCTTCTTCTAACTCTTCCCCCTGGACAGTATCTGAGAAAGAAAAATGAGGAACTGGAACAGCTCTACCAGGATCAAGAGGTGCCCAAGCCAAAATCCTGGTGAGTGACATCTGGTAGTCCTCTAGAAAGGGACACCAGGCCCCTGTGTTTACTTGAAGCCACCTGCCTGGGGAATCACAGATCTCCTCCTCCCTGGCCACCCTTGTCAGATGCATCCCAGCAACTTCCTTCAAGAGGCCCTGGGATGAGGGGTGAGGGTGGGAGAGTGACCTGGCTAGAAAACTCCACAGAGCACTGAAACCTCTGCTTCTCCTTATAGGGGTGGCTATGTCCTGTACCCTCAGGTGATGGAGTTCTGGCAAGGTCAAACCAACCTCCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACCCACAGGAGATTCCCCTTTGGGGCCCATGACCCACCGCGGGGAGGAAGACTGGCTCTATGAGAGACTTGCACCTTAACTCTGGGACCTGCTGGCCCAGAGTGGAGCTAGGGCTAGGTGTCAAGAGAGGGTGTGGGATTGGGACCCAGGCCCTTCTTTCTAAACTCAACCCATTTCCCTCCCTACCCCTTATCTTCAGGACTCTTCAGAGCTAATCCTCTAAGTTCTCTGTACTCAGTTGGTTCTCAGTTAGCTGGTCAAGTGGAGTGTAATGGTGGCGTAGAGAATCACAAATGGAAAATAATTCCATAATTATTTTTTTGACCTTGCCTATGATTGATTAGGATAGCTCCCTCTAGGGGTAGCAGCCGGTGTGACTCCCTTTCTGGTGACAGACAGGGCCCCAGCAGCCCTGTCTGTTACCATGTGAGTCATACTGGCCAAAGCTTAGTCCTAGCATATGCACCTGAGCCAACCTGGCCAATCAGATTGTTTTGTCAATAATTTGAAATTTGAACTGGAGAGATCCAGAACCTTGGGAGTCATTAAAGCCAAGTCATTCATAGCAGCCAGGAAACAATAGGAACCAAAAGCCTCTGCCTGCTGCTATTGCAATTCCCAGGATCTCTCCTTCCCTGGATCCCTCCCTCCCAGGTCTGGGCTGTGCAGTTCCTCCCCCTGCCTTAAAACACCCCACTATCTCTGTAAAGTCTCTCTCTCTCTTTTTTTTTTTTTTACTTAATCTAGCTAGAATCTATTTCTGTTGATTACAACTTAACTAACTCATTTACGGATAGGACTTTTTTTTTTCTTTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATTGTCTCCATCTCTTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCGAGACGGGGTTTCATTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTAAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCTTGGCCGGGATAGTATATTTTTATAGCACTTCCCCTACTGATTGCTGCCTTCTCTGTGGCTACAAGGGACCCACAGAATTACAGGGAAGTTACAGGGAAGCAGGTTTCATCTCAATATTGGGAGAGATTTCAAACAATCACACCTGCCTGAGAAGGAGTGGGCTGTCACTAGGAATTTTTATTCCCAGTCCGTCAGGAATTTTGTAGAAGGGCTTCATGTGCTGGTACCAATAGGACAGGAAGATTTTAATCAGCTTTACTATCTATGTTTTTTTATGGAAACTGTGTGTATGTATACATACATTTTCCAAAAAGAAAAATTAAATGATTATAGAGATTATGTTTTTCAGACTACTCACGTATCTGCTTTTCTTACTCCCCACCTCTGCTGATAATTCCTAGTTCATTGGTTTTTCCCCCACACTGGAATTACCTGGGGAGCTTAAAAAACCCTGATGCCTGGGTCCCACCCTCAGAGATGATTGAACCAGCCTGGCCAGCATGGCAAAACCCTGTCTCTACTATGATATGAATGCAGCCTGGGCACTGGGAAATTTAAAAACTCCCCAGATAATTCTGTGCAGCCAAGGTTGAGACCTCCTAGTCTAGAGCTTTGCTATACACAGGGTGGTCCACAAGCCAGGAGCATCAGCATCACTTGGCAGCGCCTTAGAGATTCAGACCCCAGACCCACTGAATCTGACCCTGCATTTTCACTAGACCCCAGGTGATCAGCTGCACTAGACTCAACCTCTAAACCAAGACCTCCCACCCTCACAGTC
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Task1_train_24860
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Consider a variant on Chromosome 17 in gene HOXB1 (homeobox B1). Determine its clinical classification and disease relevance.
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Pathogenic; Facial paresis, hereditary congenital, 3
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ACCCGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGAAAGCGGAGGCGGGCAGATCACTTGAGCCCGGGAGTTGGAGACCATCCTGGGCGAAATGGCAAAACCCTGTCTCTACAAAAATACAAAAATCAGCCGGGAGTGGTGGTGTGCGCCTGTGGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAACCTGAGAGGCAGAGGTTGCAGTGAACGGAGATTATGCCACTGTACTCCAGCCTGAGCAACAGAGCGAGACCCTGTCTCAAACAAACAAACAAACAAAAACCAAAACACAAAACCAAAAAACAAAACACAAACCAAAAAACTGCACTCCAGCCTGAGCGACAGAGCCAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGAAAGAAAGCAAGAAAGAAAGAAAAAAAGAAAAGAAAAAGAAAAATCTCTGGGAATTGCATTCATTCCACAGACTTCTTCCATGCTTTTCTGGATTCTCCCAATAACCAAGGGACTGACAACTGTCAAGCCTGAATGCCTGGGACCCAATCCTGCTTAGGCCACACCCAGTAAGTCCTTCTCTTTATCCAGCTGAGATCTTAAAGCTCAGTTCATTCCAGCCCAACCAGCCAATGGCCACTCTTTCTTCACCTCTTCTCCACGGTGCACGGAGTATGAGGCCTCTTCTACCCCTGAATGGAGAAACAGAAGCAGGCAGGAAGAAGGGAAAACACAGACTTTATTGAAATGAGGTAGTTGCAGGTACAGAGAGAACCCGGGCTCACTTGGGGCTCAGGTTTCCAGAAACTTAGATGGCTCCTCCTCTTTCTCAAAGGTTCAGATAAATCCTTGCAGCTGTTGGGAGCCCTCATTGTGCCTGGCTCTCCCTGGGCTGCCCCCAGGGGTAGGGGTGGAGATGGGGAAGAGGGTCCTGGGTTTTCCAGGAGGCAATAAATAGGGGAGGAGCTAGTGGGGGCGTGCCTGCACCTTCCTGGTTGTGGCTTGCTGGGGGCAGGCCTTGCACGGCGTTCCAGAAGTCTCTGGAATACCAAGTTCCAAAACACTTTGGTGACATAGTGATGAGGTCGCTGGTGTGAGGAGGCAGGTCTCAGAAAACAACCTCTGAAGGCTGCATTAGTGCAATATAAATATGCCAGGAGAGGGCTAATGGGGTTAGATGGGGGCGGGGGGCTTTTTGGTCTGTCACAAGGCAGCTGGTGCTATTGTAAGGTCTGTGGTGACTGGATTAAGCATTGATAATAATATGGCTGCACCCAAACACCTCCCACACAAGAAAATTTAAGGTTCTGTGTCAGGCCTAGAAGGGGGAGTTAGGATAAGAGTGCGTGAGGAGACTCCTCAAAGCTCGAAGGCACTGAACCGAATAAACCCAAGTTGGAAGGGAAAGGAGGATGAATCCAGGAGGATGAGGCTGGCCCCCACCCCCACCACATGTTGACACTGAGCTGATCCCCAGATCAAAGGCAGAAGCCCTTCCCTCTACATTTGACAGGTTCCATGCCTCCCAGGCCTCTGGTCCTGTAGGGCCCCCAGCCACCCAGGTCTGAGAAAAATGTTTCCCCATCCCCCCTCCCACCCCCAGGCAGCTCTAAACTGGCATTTCAGCCCTAGAGAGGATCCCCAGGCCAGTGAAGCCCAGGCCTGGGGTTGGGGAGAGCCTGGGATAGGGCTGGACTGGGGCGCTCCAGTGCCTGGAAGCCCCATTGGTGGCTAGGTTCAGTTCAGGAGGTGACAGAGCTGGGTGAGGCTTCCGGGGAGGTGCATGTCGACTGGTCTGAGGCATCTCCAGCTGCCTCCTTGGGGCAGCCTGGTGGGGCTGGGGGGACCCGACCTTCCTCTCGCTCGCGCTTCTTCTGCTTCATTCGTCGGTTCTGGAACCAAATCTTGACCTGTGTTTCATTGAGCTCCAGGGTGGCGGCAATCTCCACCCTCCGGGCCCGGCTCAGGTACTTGTTGAAATGGAACTCCTTTTCCAGTTCTGTCAGCTGCCTTGTGGTGAAGTTGGTGCGGAGGCCACTGGGCGAGCCCAGGCCTGGCTCTGACACCTTCGCTAGGGGCGGGGCAGGGAGAAAGGCCAGGTCAATTCTCTCACCTCTTTCTCCTTCCGCTTCCCTCCTCCCGGGGCTGGCTCTGGACCTCCATTTGCCATTCTGCCCAAGTACAGTTGTCAAAGTTCCCAGGGACCACCAGGTACCCCCATGGTGATCACCAAGTCTGGAGCAGCCTTCCCCATACTTCCATCCCCCATGCACACCAGGTCCTGGGTCTGTGCTGGGTGCACAGATCAGGAAGTGGGGTGTGTATGGAAACTTACTCCTGGGGTGACCGGTTACATACTGGGTGGGGAGACCTCACCTGACCTGAGACGTAGGTTGTGCTCTTACCTGTGTCTACCAGAGCCGCTGAAAGAGAAGAACCCAGCCCAGACCCAGGACATGTCACTGCAGGGGAAGCAGAGATGCTTTGGGCCCCGGAGAAGGGGTGGCCACATCTGAGCCCTACCTGTCTTGGGTGGGTTTCTCTTAACCTTCATCCAGTCGAAGGTCCGGGCCGTGGGGGTGTTAGGTTCTGAAGGGCAGGGTGTTTCCTTGTCCTCGGAGAGGAGATCAGCATAGGCCGGTGCAAAGCTCGCGGTCTGCTCGTTCCCATAAGGGGGATGCTGCGGAGGATATGGCCCCGGACCGGCTCCACCTGCTCCGTAGCCATCGGACAAGCCCCCTAGCTGGGCCCCGTAGCTCGAGGGATGAAAATAGCCTCCGTCTCCTTCTGATTGACCCAGAGGGTAGTACTGAGAAGGCCCGTAGCTGGGGCTGCAGGCGGCAGGAGCATACCCCGAGGGCGCGGAGCTGGGGAAGGGCACCCCCAGGGTCGAAGGCGGCTGCTGGGCGGGATAGCCGGAGTTCTGCTGAAACGCAGGGCTGGACAGCCCCCCACCGTAGCGGCCCTCGCTTGCATAGCTGTCAACCGCCTGAGCCGAGCTTGGGGGAAAGGAGGTTGGGGCGCTGTGGGCGCTGTAGGCGCTGGGTCCCCGGTTACAGAGTGGGTACTCTAAGAAGGAGTTCATCCTATTATAGTCCATGCGTCAAGGCCGCAGGAGGGTCGGCCCGTTTGGGGGAGACACCCTCTTGCCCTACAACCTTTCGGCAGTATGTCACAGCGCTGGGGCTCGAATCCATGGCCTGACCCGCTCGCCTGGGCAAGCGCTTCCCTAGGAAGGGGGTAGGGAGTGGGGGTGAGGGGGCACATGTGATCTCTCCCAGGCCAATGGGCTAAGCGGGCCAGAGTTTGGCAGCCCCAGCGCCCATCCATCACCCCCCAAGCATTAGCATGACAAAGACACTTCAATCACCCGCAGCCCATCCATCTGAGAGCGACATGGAAGCGTCAAAAACATCTTTCTTCAAAGACTTTTGGAAAGAAGGGACCAGAGGGAGAGGGGGAAAAAGTTAGGAGAATATTCAAGACTTTCCTTCCCTCCCAACCCCCAAGGCCTTCAATAGGCTCCTGGGTTATTAGATTTGGACAAATTCAAGCCAGCTGCCCCTCACTCTTCCCACCCCTCAGAGAAACCTTCCCCCTAAGTCTGTGGACCTGGAGGTGGGGAATCCAGCTTCCATACTTTGCCCAGAACTCCCAAACCATGTTCCTTTCTTCCAATTTGTCTTAGGGTGGTGGGCTAGGACAGCCGGGTGAGGTATGTTATCTTGGGCCAAATGGATGACTGTGTGGTGGGGAGGTGGGGGAAGGTGGTGCAAAAACACCTAAGGGTGTGGGGCAGGATCTAGAATCTAGAGGAAGAATTCATGAAGCCAGGGGTGGGAAATTGGCATTTCAGGGAGCAAGGCAGGACTACAGAAATGTGGAGAAAAGGATGAGAAATGCCCCATCTTCCCTCTCTCTCTCTTTGCATAAATGTTCTCTCCTCATTCACACATCCATTTCTCTCCCTCAGCCTCTCTTTATATTCTCTCTGTCTCAATCCATCTCTCTGTTCGTCCATCTTTCTCCATATTTATATTCGTTCCCTACCTCTCATCTCTCTAGATGTATTTATC
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ACCCGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGAAAGCGGAGGCGGGCAGATCACTTGAGCCCGGGAGTTGGAGACCATCCTGGGCGAAATGGCAAAACCCTGTCTCTACAAAAATACAAAAATCAGCCGGGAGTGGTGGTGTGCGCCTGTGGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAACCTGAGAGGCAGAGGTTGCAGTGAACGGAGATTATGCCACTGTACTCCAGCCTGAGCAACAGAGCGAGACCCTGTCTCAAACAAACAAACAAACAAAAACCAAAACACAAAACCAAAAAACAAAACACAAACCAAAAAACTGCACTCCAGCCTGAGCGACAGAGCCAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGAAAGAAAGCAAGAAAGAAAGAAAAAAAGAAAAGAAAAAGAAAAATCTCTGGGAATTGCATTCATTCCACAGACTTCTTCCATGCTTTTCTGGATTCTCCCAATAACCAAGGGACTGACAACTGTCAAGCCTGAATGCCTGGGACCCAATCCTGCTTAGGCCACACCCAGTAAGTCCTTCTCTTTATCCAGCTGAGATCTTAAAGCTCAGTTCATTCCAGCCCAACCAGCCAATGGCCACTCTTTCTTCACCTCTTCTCCACGGTGCACGGAGTATGAGGCCTCTTCTACCCCTGAATGGAGAAACAGAAGCAGGCAGGAAGAAGGGAAAACACAGACTTTATTGAAATGAGGTAGTTGCAGGTACAGAGAGAACCCGGGCTCACTTGGGGCTCAGGTTTCCAGAAACTTAGATGGCTCCTCCTCTTTCTCAAAGGTTCAGATAAATCCTTGCAGCTGTTGGGAGCCCTCATTGTGCCTGGCTCTCCCTGGGCTGCCCCCAGGGGTAGGGGTGGAGATGGGGAAGAGGGTCCTGGGTTTTCCAGGAGGCAATAAATAGGGGAGGAGCTAGTGGGGGCGTGCCTGCACCTTCCTGGTTGTGGCTTGCTGGGGGCAGGCCTTGCACGGCGTTCCAGAAGTCTCTGGAATACCAAGTTCCAAAACACTTTGGTGACATAGTGATGAGGTCGCTGGTGTGAGGAGGCAGGTCTCAGAAAACAACCTCTGAAGGCTGCATTAGTGCAATATAAATATGCCAGGAGAGGGCTAATGGGGTTAGATGGGGGCGGGGGGCTTTTTGGTCTGTCACAAGGCAGCTGGTGCTATTGTAAGGTCTGTGGTGACTGGATTAAGCATTGATAATAATATGGCTGCACCCAAACACCTCCCACACAAGAAAATTTAAGGTTCTGTGTCAGGCCTAGAAGGGGGAGTTAGGATAAGAGTGCGTGAGGAGACTCCTCAAAGCTCGAAGGCACTGAACCGAATAAACCCAAGTTGGAAGGGAAAGGAGGATGAATCCAGGAGGATGAGGCTGGCCCCCACCCCCACCACATGTTGACACTGAGCTGATCCCCAGATCAAAGGCAGAAGCCCTTCCCTCTACATTTGACAGGTTCCATGCCTCCCAGGCCTCTGGTCCTGTAGGGCCCCCAGCCACCCAGGTCTGAGAAAAATGTTTCCCCATCCCCCCTCCCACCCCCAGGCAGCTCTAAACTGGCATTTCAGCCCTAGAGAGGATCCCCAGGCCAGTGAAGCCCAGGCCTGGGGTTGGGGAGAGCCTGGGATAGGGCTGGACTGGGGCGCTCCAGTGCCTGGAAGCCCCATTGGTGGCTAGGTTCAGTTCAGGAGGTGACAGAGCTGGGTGAGGCTTCCGGGGAGGTGCATGTCGACTGGTCTGAGGCATCTCCAGCTGCCTCCTTGGGGCAGCCTGGTGGGGCTGGGGGGACCCGACCTTCCTCTCGCTCGCGCTTCTTCTGCTTCATTCGTCGGTTCTGGAACCAAATCTTGACCTGTGTTTCATTGAGCTCCAGGGTGGCGGCAATCTCCACCCTCCGGGCCCGGCTCAGGTACTTGTTGAAATGGAACTCCTTTTCCAGTTCTGTCAGCTGCCTTGTGGTGAAGTTGGTGTGGAGGCCACTGGGCGAGCCCAGGCCTGGCTCTGACACCTTCGCTAGGGGCGGGGCAGGGAGAAAGGCCAGGTCAATTCTCTCACCTCTTTCTCCTTCCGCTTCCCTCCTCCCGGGGCTGGCTCTGGACCTCCATTTGCCATTCTGCCCAAGTACAGTTGTCAAAGTTCCCAGGGACCACCAGGTACCCCCATGGTGATCACCAAGTCTGGAGCAGCCTTCCCCATACTTCCATCCCCCATGCACACCAGGTCCTGGGTCTGTGCTGGGTGCACAGATCAGGAAGTGGGGTGTGTATGGAAACTTACTCCTGGGGTGACCGGTTACATACTGGGTGGGGAGACCTCACCTGACCTGAGACGTAGGTTGTGCTCTTACCTGTGTCTACCAGAGCCGCTGAAAGAGAAGAACCCAGCCCAGACCCAGGACATGTCACTGCAGGGGAAGCAGAGATGCTTTGGGCCCCGGAGAAGGGGTGGCCACATCTGAGCCCTACCTGTCTTGGGTGGGTTTCTCTTAACCTTCATCCAGTCGAAGGTCCGGGCCGTGGGGGTGTTAGGTTCTGAAGGGCAGGGTGTTTCCTTGTCCTCGGAGAGGAGATCAGCATAGGCCGGTGCAAAGCTCGCGGTCTGCTCGTTCCCATAAGGGGGATGCTGCGGAGGATATGGCCCCGGACCGGCTCCACCTGCTCCGTAGCCATCGGACAAGCCCCCTAGCTGGGCCCCGTAGCTCGAGGGATGAAAATAGCCTCCGTCTCCTTCTGATTGACCCAGAGGGTAGTACTGAGAAGGCCCGTAGCTGGGGCTGCAGGCGGCAGGAGCATACCCCGAGGGCGCGGAGCTGGGGAAGGGCACCCCCAGGGTCGAAGGCGGCTGCTGGGCGGGATAGCCGGAGTTCTGCTGAAACGCAGGGCTGGACAGCCCCCCACCGTAGCGGCCCTCGCTTGCATAGCTGTCAACCGCCTGAGCCGAGCTTGGGGGAAAGGAGGTTGGGGCGCTGTGGGCGCTGTAGGCGCTGGGTCCCCGGTTACAGAGTGGGTACTCTAAGAAGGAGTTCATCCTATTATAGTCCATGCGTCAAGGCCGCAGGAGGGTCGGCCCGTTTGGGGGAGACACCCTCTTGCCCTACAACCTTTCGGCAGTATGTCACAGCGCTGGGGCTCGAATCCATGGCCTGACCCGCTCGCCTGGGCAAGCGCTTCCCTAGGAAGGGGGTAGGGAGTGGGGGTGAGGGGGCACATGTGATCTCTCCCAGGCCAATGGGCTAAGCGGGCCAGAGTTTGGCAGCCCCAGCGCCCATCCATCACCCCCCAAGCATTAGCATGACAAAGACACTTCAATCACCCGCAGCCCATCCATCTGAGAGCGACATGGAAGCGTCAAAAACATCTTTCTTCAAAGACTTTTGGAAAGAAGGGACCAGAGGGAGAGGGGGAAAAAGTTAGGAGAATATTCAAGACTTTCCTTCCCTCCCAACCCCCAAGGCCTTCAATAGGCTCCTGGGTTATTAGATTTGGACAAATTCAAGCCAGCTGCCCCTCACTCTTCCCACCCCTCAGAGAAACCTTCCCCCTAAGTCTGTGGACCTGGAGGTGGGGAATCCAGCTTCCATACTTTGCCCAGAACTCCCAAACCATGTTCCTTTCTTCCAATTTGTCTTAGGGTGGTGGGCTAGGACAGCCGGGTGAGGTATGTTATCTTGGGCCAAATGGATGACTGTGTGGTGGGGAGGTGGGGGAAGGTGGTGCAAAAACACCTAAGGGTGTGGGGCAGGATCTAGAATCTAGAGGAAGAATTCATGAAGCCAGGGGTGGGAAATTGGCATTTCAGGGAGCAAGGCAGGACTACAGAAATGTGGAGAAAAGGATGAGAAATGCCCCATCTTCCCTCTCTCTCTCTTTGCATAAATGTTCTCTCCTCATTCACACATCCATTTCTCTCCCTCAGCCTCTCTTTATATTCTCTCTGTCTCAATCCATCTCTCTGTTCGTCCATCTTTCTCCATATTTATATTCGTTCCCTACCTCTCATCTCTCTAGATGTATTTATC
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Task1_train_24861
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This variant impacts the gene HOXB1 (homeobox B1) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Facial paresis, hereditary congenital, 3
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CCCGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGAAAGCGGAGGCGGGCAGATCACTTGAGCCCGGGAGTTGGAGACCATCCTGGGCGAAATGGCAAAACCCTGTCTCTACAAAAATACAAAAATCAGCCGGGAGTGGTGGTGTGCGCCTGTGGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAACCTGAGAGGCAGAGGTTGCAGTGAACGGAGATTATGCCACTGTACTCCAGCCTGAGCAACAGAGCGAGACCCTGTCTCAAACAAACAAACAAACAAAAACCAAAACACAAAACCAAAAAACAAAACACAAACCAAAAAACTGCACTCCAGCCTGAGCGACAGAGCCAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGAAAGAAAGCAAGAAAGAAAGAAAAAAAGAAAAGAAAAAGAAAAATCTCTGGGAATTGCATTCATTCCACAGACTTCTTCCATGCTTTTCTGGATTCTCCCAATAACCAAGGGACTGACAACTGTCAAGCCTGAATGCCTGGGACCCAATCCTGCTTAGGCCACACCCAGTAAGTCCTTCTCTTTATCCAGCTGAGATCTTAAAGCTCAGTTCATTCCAGCCCAACCAGCCAATGGCCACTCTTTCTTCACCTCTTCTCCACGGTGCACGGAGTATGAGGCCTCTTCTACCCCTGAATGGAGAAACAGAAGCAGGCAGGAAGAAGGGAAAACACAGACTTTATTGAAATGAGGTAGTTGCAGGTACAGAGAGAACCCGGGCTCACTTGGGGCTCAGGTTTCCAGAAACTTAGATGGCTCCTCCTCTTTCTCAAAGGTTCAGATAAATCCTTGCAGCTGTTGGGAGCCCTCATTGTGCCTGGCTCTCCCTGGGCTGCCCCCAGGGGTAGGGGTGGAGATGGGGAAGAGGGTCCTGGGTTTTCCAGGAGGCAATAAATAGGGGAGGAGCTAGTGGGGGCGTGCCTGCACCTTCCTGGTTGTGGCTTGCTGGGGGCAGGCCTTGCACGGCGTTCCAGAAGTCTCTGGAATACCAAGTTCCAAAACACTTTGGTGACATAGTGATGAGGTCGCTGGTGTGAGGAGGCAGGTCTCAGAAAACAACCTCTGAAGGCTGCATTAGTGCAATATAAATATGCCAGGAGAGGGCTAATGGGGTTAGATGGGGGCGGGGGGCTTTTTGGTCTGTCACAAGGCAGCTGGTGCTATTGTAAGGTCTGTGGTGACTGGATTAAGCATTGATAATAATATGGCTGCACCCAAACACCTCCCACACAAGAAAATTTAAGGTTCTGTGTCAGGCCTAGAAGGGGGAGTTAGGATAAGAGTGCGTGAGGAGACTCCTCAAAGCTCGAAGGCACTGAACCGAATAAACCCAAGTTGGAAGGGAAAGGAGGATGAATCCAGGAGGATGAGGCTGGCCCCCACCCCCACCACATGTTGACACTGAGCTGATCCCCAGATCAAAGGCAGAAGCCCTTCCCTCTACATTTGACAGGTTCCATGCCTCCCAGGCCTCTGGTCCTGTAGGGCCCCCAGCCACCCAGGTCTGAGAAAAATGTTTCCCCATCCCCCCTCCCACCCCCAGGCAGCTCTAAACTGGCATTTCAGCCCTAGAGAGGATCCCCAGGCCAGTGAAGCCCAGGCCTGGGGTTGGGGAGAGCCTGGGATAGGGCTGGACTGGGGCGCTCCAGTGCCTGGAAGCCCCATTGGTGGCTAGGTTCAGTTCAGGAGGTGACAGAGCTGGGTGAGGCTTCCGGGGAGGTGCATGTCGACTGGTCTGAGGCATCTCCAGCTGCCTCCTTGGGGCAGCCTGGTGGGGCTGGGGGGACCCGACCTTCCTCTCGCTCGCGCTTCTTCTGCTTCATTCGTCGGTTCTGGAACCAAATCTTGACCTGTGTTTCATTGAGCTCCAGGGTGGCGGCAATCTCCACCCTCCGGGCCCGGCTCAGGTACTTGTTGAAATGGAACTCCTTTTCCAGTTCTGTCAGCTGCCTTGTGGTGAAGTTGGTGCGGAGGCCACTGGGCGAGCCCAGGCCTGGCTCTGACACCTTCGCTAGGGGCGGGGCAGGGAGAAAGGCCAGGTCAATTCTCTCACCTCTTTCTCCTTCCGCTTCCCTCCTCCCGGGGCTGGCTCTGGACCTCCATTTGCCATTCTGCCCAAGTACAGTTGTCAAAGTTCCCAGGGACCACCAGGTACCCCCATGGTGATCACCAAGTCTGGAGCAGCCTTCCCCATACTTCCATCCCCCATGCACACCAGGTCCTGGGTCTGTGCTGGGTGCACAGATCAGGAAGTGGGGTGTGTATGGAAACTTACTCCTGGGGTGACCGGTTACATACTGGGTGGGGAGACCTCACCTGACCTGAGACGTAGGTTGTGCTCTTACCTGTGTCTACCAGAGCCGCTGAAAGAGAAGAACCCAGCCCAGACCCAGGACATGTCACTGCAGGGGAAGCAGAGATGCTTTGGGCCCCGGAGAAGGGGTGGCCACATCTGAGCCCTACCTGTCTTGGGTGGGTTTCTCTTAACCTTCATCCAGTCGAAGGTCCGGGCCGTGGGGGTGTTAGGTTCTGAAGGGCAGGGTGTTTCCTTGTCCTCGGAGAGGAGATCAGCATAGGCCGGTGCAAAGCTCGCGGTCTGCTCGTTCCCATAAGGGGGATGCTGCGGAGGATATGGCCCCGGACCGGCTCCACCTGCTCCGTAGCCATCGGACAAGCCCCCTAGCTGGGCCCCGTAGCTCGAGGGATGAAAATAGCCTCCGTCTCCTTCTGATTGACCCAGAGGGTAGTACTGAGAAGGCCCGTAGCTGGGGCTGCAGGCGGCAGGAGCATACCCCGAGGGCGCGGAGCTGGGGAAGGGCACCCCCAGGGTCGAAGGCGGCTGCTGGGCGGGATAGCCGGAGTTCTGCTGAAACGCAGGGCTGGACAGCCCCCCACCGTAGCGGCCCTCGCTTGCATAGCTGTCAACCGCCTGAGCCGAGCTTGGGGGAAAGGAGGTTGGGGCGCTGTGGGCGCTGTAGGCGCTGGGTCCCCGGTTACAGAGTGGGTACTCTAAGAAGGAGTTCATCCTATTATAGTCCATGCGTCAAGGCCGCAGGAGGGTCGGCCCGTTTGGGGGAGACACCCTCTTGCCCTACAACCTTTCGGCAGTATGTCACAGCGCTGGGGCTCGAATCCATGGCCTGACCCGCTCGCCTGGGCAAGCGCTTCCCTAGGAAGGGGGTAGGGAGTGGGGGTGAGGGGGCACATGTGATCTCTCCCAGGCCAATGGGCTAAGCGGGCCAGAGTTTGGCAGCCCCAGCGCCCATCCATCACCCCCCAAGCATTAGCATGACAAAGACACTTCAATCACCCGCAGCCCATCCATCTGAGAGCGACATGGAAGCGTCAAAAACATCTTTCTTCAAAGACTTTTGGAAAGAAGGGACCAGAGGGAGAGGGGGAAAAAGTTAGGAGAATATTCAAGACTTTCCTTCCCTCCCAACCCCCAAGGCCTTCAATAGGCTCCTGGGTTATTAGATTTGGACAAATTCAAGCCAGCTGCCCCTCACTCTTCCCACCCCTCAGAGAAACCTTCCCCCTAAGTCTGTGGACCTGGAGGTGGGGAATCCAGCTTCCATACTTTGCCCAGAACTCCCAAACCATGTTCCTTTCTTCCAATTTGTCTTAGGGTGGTGGGCTAGGACAGCCGGGTGAGGTATGTTATCTTGGGCCAAATGGATGACTGTGTGGTGGGGAGGTGGGGGAAGGTGGTGCAAAAACACCTAAGGGTGTGGGGCAGGATCTAGAATCTAGAGGAAGAATTCATGAAGCCAGGGGTGGGAAATTGGCATTTCAGGGAGCAAGGCAGGACTACAGAAATGTGGAGAAAAGGATGAGAAATGCCCCATCTTCCCTCTCTCTCTCTTTGCATAAATGTTCTCTCCTCATTCACACATCCATTTCTCTCCCTCAGCCTCTCTTTATATTCTCTCTGTCTCAATCCATCTCTCTGTTCGTCCATCTTTCTCCATATTTATATTCGTTCCCTACCTCTCATCTCTCTAGATGTATTTATCC
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CCCGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGAAAGCGGAGGCGGGCAGATCACTTGAGCCCGGGAGTTGGAGACCATCCTGGGCGAAATGGCAAAACCCTGTCTCTACAAAAATACAAAAATCAGCCGGGAGTGGTGGTGTGCGCCTGTGGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAACCTGAGAGGCAGAGGTTGCAGTGAACGGAGATTATGCCACTGTACTCCAGCCTGAGCAACAGAGCGAGACCCTGTCTCAAACAAACAAACAAACAAAAACCAAAACACAAAACCAAAAAACAAAACACAAACCAAAAAACTGCACTCCAGCCTGAGCGACAGAGCCAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAGAAAGAAAGCAAGAAAGAAAGAAAAAAAGAAAAGAAAAAGAAAAATCTCTGGGAATTGCATTCATTCCACAGACTTCTTCCATGCTTTTCTGGATTCTCCCAATAACCAAGGGACTGACAACTGTCAAGCCTGAATGCCTGGGACCCAATCCTGCTTAGGCCACACCCAGTAAGTCCTTCTCTTTATCCAGCTGAGATCTTAAAGCTCAGTTCATTCCAGCCCAACCAGCCAATGGCCACTCTTTCTTCACCTCTTCTCCACGGTGCACGGAGTATGAGGCCTCTTCTACCCCTGAATGGAGAAACAGAAGCAGGCAGGAAGAAGGGAAAACACAGACTTTATTGAAATGAGGTAGTTGCAGGTACAGAGAGAACCCGGGCTCACTTGGGGCTCAGGTTTCCAGAAACTTAGATGGCTCCTCCTCTTTCTCAAAGGTTCAGATAAATCCTTGCAGCTGTTGGGAGCCCTCATTGTGCCTGGCTCTCCCTGGGCTGCCCCCAGGGGTAGGGGTGGAGATGGGGAAGAGGGTCCTGGGTTTTCCAGGAGGCAATAAATAGGGGAGGAGCTAGTGGGGGCGTGCCTGCACCTTCCTGGTTGTGGCTTGCTGGGGGCAGGCCTTGCACGGCGTTCCAGAAGTCTCTGGAATACCAAGTTCCAAAACACTTTGGTGACATAGTGATGAGGTCGCTGGTGTGAGGAGGCAGGTCTCAGAAAACAACCTCTGAAGGCTGCATTAGTGCAATATAAATATGCCAGGAGAGGGCTAATGGGGTTAGATGGGGGCGGGGGGCTTTTTGGTCTGTCACAAGGCAGCTGGTGCTATTGTAAGGTCTGTGGTGACTGGATTAAGCATTGATAATAATATGGCTGCACCCAAACACCTCCCACACAAGAAAATTTAAGGTTCTGTGTCAGGCCTAGAAGGGGGAGTTAGGATAAGAGTGCGTGAGGAGACTCCTCAAAGCTCGAAGGCACTGAACCGAATAAACCCAAGTTGGAAGGGAAAGGAGGATGAATCCAGGAGGATGAGGCTGGCCCCCACCCCCACCACATGTTGACACTGAGCTGATCCCCAGATCAAAGGCAGAAGCCCTTCCCTCTACATTTGACAGGTTCCATGCCTCCCAGGCCTCTGGTCCTGTAGGGCCCCCAGCCACCCAGGTCTGAGAAAAATGTTTCCCCATCCCCCCTCCCACCCCCAGGCAGCTCTAAACTGGCATTTCAGCCCTAGAGAGGATCCCCAGGCCAGTGAAGCCCAGGCCTGGGGTTGGGGAGAGCCTGGGATAGGGCTGGACTGGGGCGCTCCAGTGCCTGGAAGCCCCATTGGTGGCTAGGTTCAGTTCAGGAGGTGACAGAGCTGGGTGAGGCTTCCGGGGAGGTGCATGTCGACTGGTCTGAGGCATCTCCAGCTGCCTCCTTGGGGCAGCCTGGTGGGGCTGGGGGGACCCGACCTTCCTCTCGCTCGCGCTTCTTCTGCTTCATTCGTCGGTTCTGGAACCAAATCTTGACCTGTGTTTCATTGAGCTCCAGGGTGGCGGCAATCTCCACCCTCCGGGCCCGGCTCAGGTACTTGTTGAAATGGAACTCCTTTTCCAGTTCTGTCAGCTGCCTTGTGGTGAAGTTGGTGCAGAGGCCACTGGGCGAGCCCAGGCCTGGCTCTGACACCTTCGCTAGGGGCGGGGCAGGGAGAAAGGCCAGGTCAATTCTCTCACCTCTTTCTCCTTCCGCTTCCCTCCTCCCGGGGCTGGCTCTGGACCTCCATTTGCCATTCTGCCCAAGTACAGTTGTCAAAGTTCCCAGGGACCACCAGGTACCCCCATGGTGATCACCAAGTCTGGAGCAGCCTTCCCCATACTTCCATCCCCCATGCACACCAGGTCCTGGGTCTGTGCTGGGTGCACAGATCAGGAAGTGGGGTGTGTATGGAAACTTACTCCTGGGGTGACCGGTTACATACTGGGTGGGGAGACCTCACCTGACCTGAGACGTAGGTTGTGCTCTTACCTGTGTCTACCAGAGCCGCTGAAAGAGAAGAACCCAGCCCAGACCCAGGACATGTCACTGCAGGGGAAGCAGAGATGCTTTGGGCCCCGGAGAAGGGGTGGCCACATCTGAGCCCTACCTGTCTTGGGTGGGTTTCTCTTAACCTTCATCCAGTCGAAGGTCCGGGCCGTGGGGGTGTTAGGTTCTGAAGGGCAGGGTGTTTCCTTGTCCTCGGAGAGGAGATCAGCATAGGCCGGTGCAAAGCTCGCGGTCTGCTCGTTCCCATAAGGGGGATGCTGCGGAGGATATGGCCCCGGACCGGCTCCACCTGCTCCGTAGCCATCGGACAAGCCCCCTAGCTGGGCCCCGTAGCTCGAGGGATGAAAATAGCCTCCGTCTCCTTCTGATTGACCCAGAGGGTAGTACTGAGAAGGCCCGTAGCTGGGGCTGCAGGCGGCAGGAGCATACCCCGAGGGCGCGGAGCTGGGGAAGGGCACCCCCAGGGTCGAAGGCGGCTGCTGGGCGGGATAGCCGGAGTTCTGCTGAAACGCAGGGCTGGACAGCCCCCCACCGTAGCGGCCCTCGCTTGCATAGCTGTCAACCGCCTGAGCCGAGCTTGGGGGAAAGGAGGTTGGGGCGCTGTGGGCGCTGTAGGCGCTGGGTCCCCGGTTACAGAGTGGGTACTCTAAGAAGGAGTTCATCCTATTATAGTCCATGCGTCAAGGCCGCAGGAGGGTCGGCCCGTTTGGGGGAGACACCCTCTTGCCCTACAACCTTTCGGCAGTATGTCACAGCGCTGGGGCTCGAATCCATGGCCTGACCCGCTCGCCTGGGCAAGCGCTTCCCTAGGAAGGGGGTAGGGAGTGGGGGTGAGGGGGCACATGTGATCTCTCCCAGGCCAATGGGCTAAGCGGGCCAGAGTTTGGCAGCCCCAGCGCCCATCCATCACCCCCCAAGCATTAGCATGACAAAGACACTTCAATCACCCGCAGCCCATCCATCTGAGAGCGACATGGAAGCGTCAAAAACATCTTTCTTCAAAGACTTTTGGAAAGAAGGGACCAGAGGGAGAGGGGGAAAAAGTTAGGAGAATATTCAAGACTTTCCTTCCCTCCCAACCCCCAAGGCCTTCAATAGGCTCCTGGGTTATTAGATTTGGACAAATTCAAGCCAGCTGCCCCTCACTCTTCCCACCCCTCAGAGAAACCTTCCCCCTAAGTCTGTGGACCTGGAGGTGGGGAATCCAGCTTCCATACTTTGCCCAGAACTCCCAAACCATGTTCCTTTCTTCCAATTTGTCTTAGGGTGGTGGGCTAGGACAGCCGGGTGAGGTATGTTATCTTGGGCCAAATGGATGACTGTGTGGTGGGGAGGTGGGGGAAGGTGGTGCAAAAACACCTAAGGGTGTGGGGCAGGATCTAGAATCTAGAGGAAGAATTCATGAAGCCAGGGGTGGGAAATTGGCATTTCAGGGAGCAAGGCAGGACTACAGAAATGTGGAGAAAAGGATGAGAAATGCCCCATCTTCCCTCTCTCTCTCTTTGCATAAATGTTCTCTCCTCATTCACACATCCATTTCTCTCCCTCAGCCTCTCTTTATATTCTCTCTGTCTCAATCCATCTCTCTGTTCGTCCATCTTTCTCCATATTTATATTCGTTCCCTACCTCTCATCTCTCTAGATGTATTTATCC
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Task1_train_24862
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Mutation context: Chromosome 17, Gene SPOP (speckle type BTB/POZ protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Neurodevelopmental disorder with microcephaly and dysmorphic facies
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AGAATTTCATATGGGGAAGTGAAGGGAGAGAGCGAGCGAGCTGGAACTTGGCCTCGGATTTAACCACAGGATAAGAGACTGCCAAGTGAGGGCAGGCCAACTGGCTTCCAAATCAAGACTGTGAAGACAGGGGTTGGAGCAGCTGGAATGGATTGGGAAGAGAGGGGGAAGCATATGAGAAAAGGCTGGACCCACTGTGGACTCAAAAAAGCTGCAGTAAAGGTTATGGTATTGCCTAACACTGCCAGATGCAGTATTTAGGGGAGATTTTCTTCAGAGAACAGTTTAAAGATTGGCTTTCATTTCCAATAGAAACTAGAATTTTCTACTATTTTTAAGTTTTTCTGAAATGCAAGTCTGTAAGATAGGTGAAGATTCAAACTGTGATCTGTTTACATAACATCTAACCTCATGTAAAACCAACTAAATTCTCATTTCTTCATTCAGGCAACTGAGTATAATCTGTGACGTTAGATTTACACAGAATTCACACTCCAAGTTTATCAGACATAAAAGAACTGCCACATTTTATGTATTTATTATAGATGCTATCACTCTAGTATTTCCTTCTTTTACTTGGTAATTAAAAAGGAGAGGGGATACCAAATTATGCAAACTATATTTTACATATTTAGTGTGGTATTATAAGAAACTGCCTCCAAAGTTTTCTAATCATTTGCAACTACTCTGTTGCAATACAGAAGGCTGGCTGGGCGTGGTGGCTCACATCTGTAATCCCAACACTTTGGCAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCCCTACTAAAAATACAAGAATTAGCCAGGCCTGGTGGCATACACCTATAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTTGCGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGCAATACATAAGCCTGCTACCGACCGCTAGGCCTTTTCTGCAAAAGGGCAAGATTCCTAAGGGACTCCATTCCCTGCTACTCAGGTGGTGATATGCCTTTGAAACTGTCATTAACTCACAGTGTGAGCCTATTATTTGACCGAGCGAGTTGGCAATTGGGGAACAACTGTACCATCCCCCATGATGATACACTGTTTATTATTATCAAGCGGTGCTGCTCAGGAAGTGGTTCCTCAACCTATGTGCAGGGAACACTAATGCCCCAGTTGACTGGAGATTTTATTCATTTATTACACTGTGAGCTTGTCAGTATTTCTAAATGTATTCATAACAGCATGAAATGACTAATCAGTATATACTCATTAAAGAAACCACTTTCCAACTCATTCTTGGTTTGGGAATTTTATTTCAAGGCTTCTCCTGTAAACCTGGGAAAAGCTCTTAGGTCACTGGTGAGAGGACTTTCCTAACTGACTACAGATAACTCTGTGAGCTAACTGTGAGTTAGAGAGCTTTACATAGCCTTCACCCTAGAAAAAAAATGGTTCTCACCTTCTTATTTCACAATTACTCCAGCAAGACAAACCATAGGCCTCAACTCTTGATAAGAATCTAGTTCAAAGAGCAGAAAAGGTAAGTAATCTGCAAACACACATGGCCCTCACACTTAAGGAGCCAGAAAGTATAAACAACAGATACACATATTTAGCTTGATGTGACAGTCCTTTCAAATGCTATCTGAAAAAAATCCCACAGTGAAAACTCCTGACCCAAGCAACTTAAAACTGACACATACCAAGGTAGCATACATACAACCTTTGTTTTTAAGAACAGTAACAAGTGGAAAGCTGAGATGCCCAACAACCTTGAAATCATCAGGTAGCTCAATCAGTCACATAAATAACATTTGTGCAGCACTACTCCACTTGGGGCTTTTTCTTACTCTACATCCCTGATACAATATAATTAAGTCTACCAATACTCATCAGATCTGGGAACTGCTAGTCTCAGCAGAATACAAGGACTCACCTCGCAGAAGAGGGTAAGCTTGTCATCAGGGAGAAGCCCGTTGGCCTCATCCAAAAGAAAATCTCTACGGATGAATTTCTTGAATCCCCAGTCTTTGCCTTGCACAAACCTATATGCCCGTTGACTCTCTGGGGTGGGGAAAAAAAAAGTCATATTTAAGGTTACGCAAAAACCAGATCAAAGCCACAACTTGTCAGTGTATGAAACTTCTGGATGTGAAACTTAAGAGTTGAACAAAGAGGAGAACATTTACCCATAGCTTTGGTTTCTTCTCCCTTGGCATTCAGGATGGAGAATTTGAATTTTGCCCGAACTTCACTCTTTGGACAGCTGACCAGTAACAGGTAAAGTGACAGGTAATCTTTGCTTTCTTCATCTAACCCTTTGGGGTTTACTCGCAAACACCTGTCCAAAACAGATAGAAAAAAAAAATGTCAAAAGCATCCATTTTGATAGAACTGGAAATCAGACTCAAGAGAGGGAGATGTTTAAAAAACAAATGCAGGCCCCATAGAAGAATATAATTCAGTAGAATGACTAGTTGGGAACAACTTTTTTCTCTTTTTTTTTGAGACATGGTCTTACTCTATCGTCCAGGCTGGAGTGCAGTGGTATGATCATGGCTTACTGCAACCTCGATCTCCCTGGGCTCAGGTGATCCTCCCACCCCAGCCTCCCGAGTAGCGGGGACTACAGATGTGCACCACCATGGCCAGCTAATTTTTGTAGAGATGGGGTTTCGCCATATTGCCCAGGCTGGTCTTGAATGCTTGAGCTCAAGCGATCCGTCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGAATAAGCAACCACACCTGGCTGGGAACCACTTTCGTAAAGCAAAATGGGTCACCTTTTAAAAAGTAAACAACAGGCTGGGTGCGGTGGCTCACCCCTGTAATCTCAGCACTTTGGGAGGCCAAAGCGGGCGCATCACTTGAGGTCAGGACTTCGAGGCCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATAAAAAATAAAGAAAAAAACTAGTTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTACGCTCCAGCCTGGGTAACAAGAACGAAACTCCATCTCAAAAAAGAAAAAGAAAAAAAAAAGAAATGTGTGGACCAGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGTTCGAGAATGGCCTGACCAACATGGTGTAATCCTGTCTCTACTAAAAATACCAGGCGTGCTAGTGGGCACCTGTAATCCCTGCTTCTCTGGAGGCTGAGGCAGGAGAATCACTTTAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTGTGAATAATCTTTTATAGATAATAATATACATAATCTTTTATAGATATTTTACCAATCTGGCAACAATATTCTAAGACTAAAATAAAAGAGGCAATATGAAGGAAGCACAGACAAAAGTAAATTATCATTACGCAGCACAGAATTCCAGGCCAGACTTCTAAATAGTGTTAGAGATGCCAATCTGTTACGGAGAGATCAAAACAAAATTCAGACAGAATAGGTTCAACTAAGTTGTAAATGTCATTAGTCAAATGCATGGGTTTCAGGCACTGCTTCTACCACATGCAATACACAGGTCATATGTATCCTTAAGCCTTATCTGTATTATTGCACCTCTCTCAAACAGGTGGCCCAATCCAGTGTCTCTCTAGGGAGTGCATATGCTACATACATTACTATACACCTTGCTAATGATGAGGATTTAAATACAATGTCTAAGAATAAACATCTCTCTCAACACTTAGTAGTAAAATGCACAATATATAGCCAAAAAATACTAAATGAATGAAAAAATAACTTTTGGTGGGTTATCAGAGGTCAA
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AGAATTTCATATGGGGAAGTGAAGGGAGAGAGCGAGCGAGCTGGAACTTGGCCTCGGATTTAACCACAGGATAAGAGACTGCCAAGTGAGGGCAGGCCAACTGGCTTCCAAATCAAGACTGTGAAGACAGGGGTTGGAGCAGCTGGAATGGATTGGGAAGAGAGGGGGAAGCATATGAGAAAAGGCTGGACCCACTGTGGACTCAAAAAAGCTGCAGTAAAGGTTATGGTATTGCCTAACACTGCCAGATGCAGTATTTAGGGGAGATTTTCTTCAGAGAACAGTTTAAAGATTGGCTTTCATTTCCAATAGAAACTAGAATTTTCTACTATTTTTAAGTTTTTCTGAAATGCAAGTCTGTAAGATAGGTGAAGATTCAAACTGTGATCTGTTTACATAACATCTAACCTCATGTAAAACCAACTAAATTCTCATTTCTTCATTCAGGCAACTGAGTATAATCTGTGACGTTAGATTTACACAGAATTCACACTCCAAGTTTATCAGACATAAAAGAACTGCCACATTTTATGTATTTATTATAGATGCTATCACTCTAGTATTTCCTTCTTTTACTTGGTAATTAAAAAGGAGAGGGGATACCAAATTATGCAAACTATATTTTACATATTTAGTGTGGTATTATAAGAAACTGCCTCCAAAGTTTTCTAATCATTTGCAACTACTCTGTTGCAATACAGAAGGCTGGCTGGGCGTGGTGGCTCACATCTGTAATCCCAACACTTTGGCAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCCCTACTAAAAATACAAGAATTAGCCAGGCCTGGTGGCATACACCTATAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTTGCGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGCAATACATAAGCCTGCTACCGACCGCTAGGCCTTTTCTGCAAAAGGGCAAGATTCCTAAGGGACTCCATTCCCTGCTACTCAGGTGGTGATATGCCTTTGAAACTGTCATTAACTCACAGTGTGAGCCTATTATTTGACCGAGCGAGTTGGCAATTGGGGAACAACTGTACCATCCCCCATGATGATACACTGTTTATTATTATCAAGCGGTGCTGCTCAGGAAGTGGTTCCTCAACCTATGTGCAGGGAACACTAATGCCCCAGTTGACTGGAGATTTTATTCATTTATTACACTGTGAGCTTGTCAGTATTTCTAAATGTATTCATAACAGCATGAAATGACTAATCAGTATATACTCATTAAAGAAACCACTTTCCAACTCATTCTTGGTTTGGGAATTTTATTTCAAGGCTTCTCCTGTAAACCTGGGAAAAGCTCTTAGGTCACTGGTGAGAGGACTTTCCTAACTGACTACAGATAACTCTGTGAGCTAACTGTGAGTTAGAGAGCTTTACATAGCCTTCACCCTAGAAAAAAAATGGTTCTCACCTTCTTATTTCACAATTACTCCAGCAAGACAAACCATAGGCCTCAACTCTTGATAAGAATCTAGTTCAAAGAGCAGAAAAGGTAAGTAATCTGCAAACACACATGGCCCTCACACTTAAGGAGCCAGAAAGTATAAACAACAGATACACATATTTAGCTTGATGTGACAGTCCTTTCAAATGCTATCTGAAAAAAATCCCACAGTGAAAACTCCTGACCCAAGCAACTTAAAACTGACACATACCAAGGTAGCATACATACAACCTTTGTTTTTAAGAACAGTAACAAGTGGAAAGCTGAGATGCCCAACAACCTTGAAATCATCAGGTAGCTCAATCAGTCACATAAATAACATTTGTGCAGCACTACTCCACTTGGGGCTTTTTCTTACTCTACATCCCTGATACAATATAATTAAGTCTACCAATACTCATCAGATCTGGGAACTGCTAGTCTCAGCAGAATACAAGGACTCACCTTGCAGAAGAGGGTAAGCTTGTCATCAGGGAGAAGCCCGTTGGCCTCATCCAAAAGAAAATCTCTACGGATGAATTTCTTGAATCCCCAGTCTTTGCCTTGCACAAACCTATATGCCCGTTGACTCTCTGGGGTGGGGAAAAAAAAAGTCATATTTAAGGTTACGCAAAAACCAGATCAAAGCCACAACTTGTCAGTGTATGAAACTTCTGGATGTGAAACTTAAGAGTTGAACAAAGAGGAGAACATTTACCCATAGCTTTGGTTTCTTCTCCCTTGGCATTCAGGATGGAGAATTTGAATTTTGCCCGAACTTCACTCTTTGGACAGCTGACCAGTAACAGGTAAAGTGACAGGTAATCTTTGCTTTCTTCATCTAACCCTTTGGGGTTTACTCGCAAACACCTGTCCAAAACAGATAGAAAAAAAAAATGTCAAAAGCATCCATTTTGATAGAACTGGAAATCAGACTCAAGAGAGGGAGATGTTTAAAAAACAAATGCAGGCCCCATAGAAGAATATAATTCAGTAGAATGACTAGTTGGGAACAACTTTTTTCTCTTTTTTTTTGAGACATGGTCTTACTCTATCGTCCAGGCTGGAGTGCAGTGGTATGATCATGGCTTACTGCAACCTCGATCTCCCTGGGCTCAGGTGATCCTCCCACCCCAGCCTCCCGAGTAGCGGGGACTACAGATGTGCACCACCATGGCCAGCTAATTTTTGTAGAGATGGGGTTTCGCCATATTGCCCAGGCTGGTCTTGAATGCTTGAGCTCAAGCGATCCGTCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGAATAAGCAACCACACCTGGCTGGGAACCACTTTCGTAAAGCAAAATGGGTCACCTTTTAAAAAGTAAACAACAGGCTGGGTGCGGTGGCTCACCCCTGTAATCTCAGCACTTTGGGAGGCCAAAGCGGGCGCATCACTTGAGGTCAGGACTTCGAGGCCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATAAAAAATAAAGAAAAAAACTAGTTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTACGCTCCAGCCTGGGTAACAAGAACGAAACTCCATCTCAAAAAAGAAAAAGAAAAAAAAAAGAAATGTGTGGACCAGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGTTCGAGAATGGCCTGACCAACATGGTGTAATCCTGTCTCTACTAAAAATACCAGGCGTGCTAGTGGGCACCTGTAATCCCTGCTTCTCTGGAGGCTGAGGCAGGAGAATCACTTTAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTGTGAATAATCTTTTATAGATAATAATATACATAATCTTTTATAGATATTTTACCAATCTGGCAACAATATTCTAAGACTAAAATAAAAGAGGCAATATGAAGGAAGCACAGACAAAAGTAAATTATCATTACGCAGCACAGAATTCCAGGCCAGACTTCTAAATAGTGTTAGAGATGCCAATCTGTTACGGAGAGATCAAAACAAAATTCAGACAGAATAGGTTCAACTAAGTTGTAAATGTCATTAGTCAAATGCATGGGTTTCAGGCACTGCTTCTACCACATGCAATACACAGGTCATATGTATCCTTAAGCCTTATCTGTATTATTGCACCTCTCTCAAACAGGTGGCCCAATCCAGTGTCTCTCTAGGGAGTGCATATGCTACATACATTACTATACACCTTGCTAATGATGAGGATTTAAATACAATGTCTAAGAATAAACATCTCTCTCAACACTTAGTAGTAAAATGCACAATATATAGCCAAAAAATACTAAATGAATGAAAAAATAACTTTTGGTGGGTTATCAGAGGTCAA
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Task1_train_24863
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The gene SPOP (speckle type BTB/POZ protein), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; SPOP-related neurodevelopmental condition
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ACTGTGATCTGTTTACATAACATCTAACCTCATGTAAAACCAACTAAATTCTCATTTCTTCATTCAGGCAACTGAGTATAATCTGTGACGTTAGATTTACACAGAATTCACACTCCAAGTTTATCAGACATAAAAGAACTGCCACATTTTATGTATTTATTATAGATGCTATCACTCTAGTATTTCCTTCTTTTACTTGGTAATTAAAAAGGAGAGGGGATACCAAATTATGCAAACTATATTTTACATATTTAGTGTGGTATTATAAGAAACTGCCTCCAAAGTTTTCTAATCATTTGCAACTACTCTGTTGCAATACAGAAGGCTGGCTGGGCGTGGTGGCTCACATCTGTAATCCCAACACTTTGGCAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCCCTACTAAAAATACAAGAATTAGCCAGGCCTGGTGGCATACACCTATAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTTGCGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGCAATACATAAGCCTGCTACCGACCGCTAGGCCTTTTCTGCAAAAGGGCAAGATTCCTAAGGGACTCCATTCCCTGCTACTCAGGTGGTGATATGCCTTTGAAACTGTCATTAACTCACAGTGTGAGCCTATTATTTGACCGAGCGAGTTGGCAATTGGGGAACAACTGTACCATCCCCCATGATGATACACTGTTTATTATTATCAAGCGGTGCTGCTCAGGAAGTGGTTCCTCAACCTATGTGCAGGGAACACTAATGCCCCAGTTGACTGGAGATTTTATTCATTTATTACACTGTGAGCTTGTCAGTATTTCTAAATGTATTCATAACAGCATGAAATGACTAATCAGTATATACTCATTAAAGAAACCACTTTCCAACTCATTCTTGGTTTGGGAATTTTATTTCAAGGCTTCTCCTGTAAACCTGGGAAAAGCTCTTAGGTCACTGGTGAGAGGACTTTCCTAACTGACTACAGATAACTCTGTGAGCTAACTGTGAGTTAGAGAGCTTTACATAGCCTTCACCCTAGAAAAAAAATGGTTCTCACCTTCTTATTTCACAATTACTCCAGCAAGACAAACCATAGGCCTCAACTCTTGATAAGAATCTAGTTCAAAGAGCAGAAAAGGTAAGTAATCTGCAAACACACATGGCCCTCACACTTAAGGAGCCAGAAAGTATAAACAACAGATACACATATTTAGCTTGATGTGACAGTCCTTTCAAATGCTATCTGAAAAAAATCCCACAGTGAAAACTCCTGACCCAAGCAACTTAAAACTGACACATACCAAGGTAGCATACATACAACCTTTGTTTTTAAGAACAGTAACAAGTGGAAAGCTGAGATGCCCAACAACCTTGAAATCATCAGGTAGCTCAATCAGTCACATAAATAACATTTGTGCAGCACTACTCCACTTGGGGCTTTTTCTTACTCTACATCCCTGATACAATATAATTAAGTCTACCAATACTCATCAGATCTGGGAACTGCTAGTCTCAGCAGAATACAAGGACTCACCTCGCAGAAGAGGGTAAGCTTGTCATCAGGGAGAAGCCCGTTGGCCTCATCCAAAAGAAAATCTCTACGGATGAATTTCTTGAATCCCCAGTCTTTGCCTTGCACAAACCTATATGCCCGTTGACTCTCTGGGGTGGGGAAAAAAAAAGTCATATTTAAGGTTACGCAAAAACCAGATCAAAGCCACAACTTGTCAGTGTATGAAACTTCTGGATGTGAAACTTAAGAGTTGAACAAAGAGGAGAACATTTACCCATAGCTTTGGTTTCTTCTCCCTTGGCATTCAGGATGGAGAATTTGAATTTTGCCCGAACTTCACTCTTTGGACAGCTGACCAGTAACAGGTAAAGTGACAGGTAATCTTTGCTTTCTTCATCTAACCCTTTGGGGTTTACTCGCAAACACCTGTCCAAAACAGATAGAAAAAAAAAATGTCAAAAGCATCCATTTTGATAGAACTGGAAATCAGACTCAAGAGAGGGAGATGTTTAAAAAACAAATGCAGGCCCCATAGAAGAATATAATTCAGTAGAATGACTAGTTGGGAACAACTTTTTTCTCTTTTTTTTTGAGACATGGTCTTACTCTATCGTCCAGGCTGGAGTGCAGTGGTATGATCATGGCTTACTGCAACCTCGATCTCCCTGGGCTCAGGTGATCCTCCCACCCCAGCCTCCCGAGTAGCGGGGACTACAGATGTGCACCACCATGGCCAGCTAATTTTTGTAGAGATGGGGTTTCGCCATATTGCCCAGGCTGGTCTTGAATGCTTGAGCTCAAGCGATCCGTCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGAATAAGCAACCACACCTGGCTGGGAACCACTTTCGTAAAGCAAAATGGGTCACCTTTTAAAAAGTAAACAACAGGCTGGGTGCGGTGGCTCACCCCTGTAATCTCAGCACTTTGGGAGGCCAAAGCGGGCGCATCACTTGAGGTCAGGACTTCGAGGCCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATAAAAAATAAAGAAAAAAACTAGTTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTACGCTCCAGCCTGGGTAACAAGAACGAAACTCCATCTCAAAAAAGAAAAAGAAAAAAAAAAGAAATGTGTGGACCAGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGTTCGAGAATGGCCTGACCAACATGGTGTAATCCTGTCTCTACTAAAAATACCAGGCGTGCTAGTGGGCACCTGTAATCCCTGCTTCTCTGGAGGCTGAGGCAGGAGAATCACTTTAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTGTGAATAATCTTTTATAGATAATAATATACATAATCTTTTATAGATATTTTACCAATCTGGCAACAATATTCTAAGACTAAAATAAAAGAGGCAATATGAAGGAAGCACAGACAAAAGTAAATTATCATTACGCAGCACAGAATTCCAGGCCAGACTTCTAAATAGTGTTAGAGATGCCAATCTGTTACGGAGAGATCAAAACAAAATTCAGACAGAATAGGTTCAACTAAGTTGTAAATGTCATTAGTCAAATGCATGGGTTTCAGGCACTGCTTCTACCACATGCAATACACAGGTCATATGTATCCTTAAGCCTTATCTGTATTATTGCACCTCTCTCAAACAGGTGGCCCAATCCAGTGTCTCTCTAGGGAGTGCATATGCTACATACATTACTATACACCTTGCTAATGATGAGGATTTAAATACAATGTCTAAGAATAAACATCTCTCTCAACACTTAGTAGTAAAATGCACAATATATAGCCAAAAAATACTAAATGAATGAAAAAATAACTTTTGGTGGGTTATCAGAGGTCAAAACTGGTGGTTCAGAGACTTGCGTTTTGGTCTTTGCAGTGGGTATATGGTTGTATCCTCAACTGCCTGCTCCTCAGGCAAGATGACACATAGTCTGAATGAGACTGATCCTCACTCCTGGATCATATTTTCCCTGCTCCAGGGATTGGTTCAGGGAATGCAAACGTAAAACAATTGGTGCATGTACGACATATTCCTGGCCACACAGTTCAGAGAAAGCTCAAAGACTTTTGCTAGCATGTAGTAGATTATACCCATTGGTACTGCCAGTTATCCCTTAAGCACAAGAGAAGCCAGACCTGAGATGTCCAAGAGCGTGGAGAACAGGGCCAGGGCAGAGATGGTGTTCTTACTCTAACTACTGGCTTGCTGGATCAAGCT
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ACTGTGATCTGTTTACATAACATCTAACCTCATGTAAAACCAACTAAATTCTCATTTCTTCATTCAGGCAACTGAGTATAATCTGTGACGTTAGATTTACACAGAATTCACACTCCAAGTTTATCAGACATAAAAGAACTGCCACATTTTATGTATTTATTATAGATGCTATCACTCTAGTATTTCCTTCTTTTACTTGGTAATTAAAAAGGAGAGGGGATACCAAATTATGCAAACTATATTTTACATATTTAGTGTGGTATTATAAGAAACTGCCTCCAAAGTTTTCTAATCATTTGCAACTACTCTGTTGCAATACAGAAGGCTGGCTGGGCGTGGTGGCTCACATCTGTAATCCCAACACTTTGGCAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCCCTACTAAAAATACAAGAATTAGCCAGGCCTGGTGGCATACACCTATAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTTGCGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAGCAATACATAAGCCTGCTACCGACCGCTAGGCCTTTTCTGCAAAAGGGCAAGATTCCTAAGGGACTCCATTCCCTGCTACTCAGGTGGTGATATGCCTTTGAAACTGTCATTAACTCACAGTGTGAGCCTATTATTTGACCGAGCGAGTTGGCAATTGGGGAACAACTGTACCATCCCCCATGATGATACACTGTTTATTATTATCAAGCGGTGCTGCTCAGGAAGTGGTTCCTCAACCTATGTGCAGGGAACACTAATGCCCCAGTTGACTGGAGATTTTATTCATTTATTACACTGTGAGCTTGTCAGTATTTCTAAATGTATTCATAACAGCATGAAATGACTAATCAGTATATACTCATTAAAGAAACCACTTTCCAACTCATTCTTGGTTTGGGAATTTTATTTCAAGGCTTCTCCTGTAAACCTGGGAAAAGCTCTTAGGTCACTGGTGAGAGGACTTTCCTAACTGACTACAGATAACTCTGTGAGCTAACTGTGAGTTAGAGAGCTTTACATAGCCTTCACCCTAGAAAAAAAATGGTTCTCACCTTCTTATTTCACAATTACTCCAGCAAGACAAACCATAGGCCTCAACTCTTGATAAGAATCTAGTTCAAAGAGCAGAAAAGGTAAGTAATCTGCAAACACACATGGCCCTCACACTTAAGGAGCCAGAAAGTATAAACAACAGATACACATATTTAGCTTGATGTGACAGTCCTTTCAAATGCTATCTGAAAAAAATCCCACAGTGAAAACTCCTGACCCAAGCAACTTAAAACTGACACATACCAAGGTAGCATACATACAACCTTTGTTTTTAAGAACAGTAACAAGTGGAAAGCTGAGATGCCCAACAACCTTGAAATCATCAGGTAGCTCAATCAGTCACATAAATAACATTTGTGCAGCACTACTCCACTTGGGGCTTTTTCTTACTCTACATCCCTGATACAATATAATTAAGTCTACCAATACTCATCAGATCTGGGAACTGCTAGTCTCAGCAGAATACAAGGACTCACCTCGCAGAAGAGGGTAAGCTTGTCATCAGGGAGAAGCCCGTTGGCCTCATCCAAAAGAAAATCTCTACGGATGAATTTCTTGAATCCCCAGTCTTTGCCTTGCACAAACCTATATGCCCGTTGACTCTCTGGGGTGGGGAAAAAAAAAGTCATATTTAAGGTTACGCAAAAACCAGATCAAAGCCACAACTTGTCAGTGTATGAAACTTCTGGATGTGAAACTTAAGAGTTGAACAAAGAGGAGAACATTTACCCATAGCTTTGGTTTCTTCTCCCTTGGCATTCAGGATGGAGAATTTGAATTTTGCCCGAACTTCACTCTTTGGACAGCTGACCAGTAACAGGTAAAGTGACAGGTAATCTTTGCTTTCTTCATCTAACCTTTTGGGGTTTACTCGCAAACACCTGTCCAAAACAGATAGAAAAAAAAAATGTCAAAAGCATCCATTTTGATAGAACTGGAAATCAGACTCAAGAGAGGGAGATGTTTAAAAAACAAATGCAGGCCCCATAGAAGAATATAATTCAGTAGAATGACTAGTTGGGAACAACTTTTTTCTCTTTTTTTTTGAGACATGGTCTTACTCTATCGTCCAGGCTGGAGTGCAGTGGTATGATCATGGCTTACTGCAACCTCGATCTCCCTGGGCTCAGGTGATCCTCCCACCCCAGCCTCCCGAGTAGCGGGGACTACAGATGTGCACCACCATGGCCAGCTAATTTTTGTAGAGATGGGGTTTCGCCATATTGCCCAGGCTGGTCTTGAATGCTTGAGCTCAAGCGATCCGTCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGAATAAGCAACCACACCTGGCTGGGAACCACTTTCGTAAAGCAAAATGGGTCACCTTTTAAAAAGTAAACAACAGGCTGGGTGCGGTGGCTCACCCCTGTAATCTCAGCACTTTGGGAGGCCAAAGCGGGCGCATCACTTGAGGTCAGGACTTCGAGGCCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATAAAAAATAAAGAAAAAAACTAGTTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTACGCTCCAGCCTGGGTAACAAGAACGAAACTCCATCTCAAAAAAGAAAAAGAAAAAAAAAAGAAATGTGTGGACCAGGCACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGTTCGAGAATGGCCTGACCAACATGGTGTAATCCTGTCTCTACTAAAAATACCAGGCGTGCTAGTGGGCACCTGTAATCCCTGCTTCTCTGGAGGCTGAGGCAGGAGAATCACTTTAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTGTGAATAATCTTTTATAGATAATAATATACATAATCTTTTATAGATATTTTACCAATCTGGCAACAATATTCTAAGACTAAAATAAAAGAGGCAATATGAAGGAAGCACAGACAAAAGTAAATTATCATTACGCAGCACAGAATTCCAGGCCAGACTTCTAAATAGTGTTAGAGATGCCAATCTGTTACGGAGAGATCAAAACAAAATTCAGACAGAATAGGTTCAACTAAGTTGTAAATGTCATTAGTCAAATGCATGGGTTTCAGGCACTGCTTCTACCACATGCAATACACAGGTCATATGTATCCTTAAGCCTTATCTGTATTATTGCACCTCTCTCAAACAGGTGGCCCAATCCAGTGTCTCTCTAGGGAGTGCATATGCTACATACATTACTATACACCTTGCTAATGATGAGGATTTAAATACAATGTCTAAGAATAAACATCTCTCTCAACACTTAGTAGTAAAATGCACAATATATAGCCAAAAAATACTAAATGAATGAAAAAATAACTTTTGGTGGGTTATCAGAGGTCAAAACTGGTGGTTCAGAGACTTGCGTTTTGGTCTTTGCAGTGGGTATATGGTTGTATCCTCAACTGCCTGCTCCTCAGGCAAGATGACACATAGTCTGAATGAGACTGATCCTCACTCCTGGATCATATTTTCCCTGCTCCAGGGATTGGTTCAGGGAATGCAAACGTAAAACAATTGGTGCATGTACGACATATTCCTGGCCACACAGTTCAGAGAAAGCTCAAAGACTTTTGCTAGCATGTAGTAGATTATACCCATTGGTACTGCCAGTTATCCCTTAAGCACAAGAGAAGCCAGACCTGAGATGTCCAAGAGCGTGGAGAACAGGGCCAGGGCAGAGATGGTGTTCTTACTCTAACTACTGGCTTGCTGGATCAAGCT
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Task1_train_24864
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This is a variant in DLX3 (distal-less homeobox 3), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
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GGCAAGGGAGGGGGAAAGGGAGTTCCTTTTCCCTGTGCTCCTCGATGATTCCTGAGTGGCTAGGACGGAGGCGCCTTCTGCCTGGTCCTGGGGTCCTTTGTCAAGGGTGCAGGCCAGATGGGTGCTCAGTACACAGCCCCAGGGTTGGGCGGGGGCCCGGGAGAGGCATGGTGCAGGGTGGCTGGCTGAGGCGGCTGCTGCTGTAAGTGGGGTCCACTCAGGTTCTGTGCGTGATACCAGGAGTTGGTGGGGTCGTCCAGGTAGCTGGGGGAGGCACTGTATGGGAGCGGCGGGGGCAGCTGACTGCGGGCAGGGGCCGGAGTGGAGTGGGAAGAGGTGTCCCAGAGGGCGGGTGATGGTGGTGAGTTGCAGGCCATGGAATCACTGTTATTGGGACTGTGCTCCAGCGGCACCTCCCCGTTCTTGTAGAGTTTCTTGAACTTGGAACGGCGGTTCTGGAACCAGATTTTCACCTGGGCCAGAGAAGAAAGGGGTAGCTAGTTAGCCTCTCAGAATGCTAAAACAACCCTGGGAAGAACCTAGCCAAGAAAAAGAAAGGCCAGAACCCAATTTCACATAAGAATCAGGCAAAAAACAGGCCTCCTGACTCCCAGTTTCTTGGATCTGGGATAGAATTGTGGCTAGGAACGTTCAGCTGCCTGGGTCCAAATTCTGCTCTGTCACTTACTAAGCGTGACCTTGGGCAAGTTGTTTAACCTCTCTTGTTCTTGACTTCCTCTTGTCTGCAAAATGGGGATGAGAACAGCACTATTACCTGCCTCATAGGGTCATTCTGAGGCTCAAATAAGGTACGACATATAAAAAACTTAAAGCAGCCTGGTATGTAGTAAGCACTCAATAAAAGGCCGTTGAGGTGGGAGATGGACGGTTTGTAGCATTTCATTCACATTAGACACCCATAAGCAGAGGTGCACAGATACACAGAGACAAACACACCCACATACACATCTCCATACCCAGCCACGTTCCCACTCACAGCCTCACACACAGACACCAGACAATAAAAATACACGCAGACACAGATACACCCAGATAAGCACCCCACAACATGAGCACCCACATTCACACACTCAGGTGTGGAGAAGTTCTCCTGGGCTCGGGCTGGATAATGGGGGTGACCTGGGGACTCAGGAGCAGGTGAGCCATGATTCCCCAAATTTCCCCTGGGGTATCTCCCCCTCCCCCTGCCACTCCCCACCCCATGACTGGTACAAACAATGAATCAGCTCCTCACCAGGTGACCCAGATTCCCGGCGGATGGGGCCCCACGCAGCCACAGCCACAACCTAGGCCCGCCTGTCAACACCTGGAGGGAGCCAGGCATCCACTGCTCCTCCCCTGAGCAGTGACAGGCTGCTGGGGGCTTTAGGGACTGGATGAGGGTGGGGGTGCGGCACTCACTTTTGAGTCCCCATCTCCTTCAGGTAGGGAATTTGGCCTCTCTTGAGCGTTCAAGTGCTGAGCAGGAATGTGGTATTTTGATGCAAGCACACATTTCTGAACATGCATTCAGAACGCATATACATTCAGGGCGCACAGTCACACACACATGCCCCCATCGTTATGCACAATGACCCCGGCAGGATCACACTCCTTACATGAGCATCCTCCGGTGCATGCAGACCCACACAGCATGTGTGCAAACACACTCGCCTATACATGCACACAGACAGTCTGCACACATGCCTAGCCTGGAGGGAAAACACGATGTGGACTCCTACTAAGTGACTAGCACTGCTGGGGGACTTGGGAGCTGGGAATTCTGGAGTAGGGGAACATACACAGTTGCACGGGTTCACAACTATGCTCACTTGTACACGTGCTAACGCAGAACCTTCCCACCGAAGTTGAACCTCGCAGGCCCCCATCCCAAAGGCAAGAGTTCCAGGAGCCCGCAGGGCCCTTCAGTGGCCAGCCAGGCTCGGCAGCGCGCGGGGAACTACGGGGTCCCGCGCGCCCCCGCGGCCCTGGACAGCCAAACACCAACCTGTGTCTGCGTGAGGCCCAGCTGCGCGGCCAGCTCGGCGCGCTCGGGCAGCGCCAGGTACTGGGCCTTCTGGAAGCGGCGCTGCAGGGCGGCCAGCTGGTAGCTGGAGTAGATCGTACGCGGCTTTCGGACCTTCTTGGGCTTCCCATTCACCATGCGCACCTCTGCTTCCGGCTCCTCCTTCACCGACACTGCGGGGAACGCACCGGGCGGAAGAGGGGGCGGTTCAGCCTCGGCCTGCGACTCCTGCGACCCTCCAGGGCCCCGCCGGACGCCCCTCGCTTCCGCCCACCGACTCGCCGCGGGATTCCCGGCCGCGCGCTCCGCTGCCCGCGGCCCAGGGGGGAGCCGCGGCCCCAGAGCCAGAACTGGCCGCGGCCCACAACGCGGCGCTCCCAGCTCCGCGCCCGGCCGCCGCAGCACTGTCCCCGGCGCCAGCCGCCGCCTGCGCCAGGACCGCCTCGGCTTCGCTCACGACGCCTTCCCGGCTCGCCTCCCAGCCTCGGGGCTCCTCGCCGCCCGGCTGCTAGCCGCCCCCTTCCCAGTCCCATCTCGCCGTCGGTTGTTTCTCTCGCTCCTTCCCGTCCGCCCCCCGCCCTTTAAAAAAGTTTCATTTTAGAATCTCTTTAGATTTTCAGAAAAGTTGCAAGGATAGTGCAGACTTTCTTTCTTTCCCTGTCCCCCTTCTTCCCCCCTTCCTTCTCTCCTTCCTTTCTTGTTTCTTCTGCCCTTTCTCTCACTGTCTTTCCATACTTCCCTCTTGCTGCCTTCACTTTTCCCTTTTTCAGCTTCTCTGCCTCTCGGTGGCTGCTTCCCTCCGCTTTCCCGCAACTTCCGTGGGTCCTTCTCATTGCCCCCTCACGACTCCTAGTCTCCCCATCCCTTATCCAAAGGAGGGCCCCTAGAGTTTCCAGCCCCTGCCGCCTACCCCCAAGCCCTCTGCGACTTGATCGAGGATCGCCTGCTGAAATGCCCACGAAATCACCTCGATTCGGAGGTTTCCTAACAACCCACAGCCTTCCCCTTCCTCTCTCAGCTCATCCCGATCCTCATCCGGGACCGCGGCGCACTGCGCACATCGCGCCCCAAATGCTTGCACACCCGGGGCTGGAAGGTCGCCTGGTCCCTCTGAGGGTCATCTAGGCCAACTTCTCTAACTCCAGACAGTACTTTTCTTAGAAGTTTTCCTAGATTTTGGCTTCCAGTCCATGCCTTTTCCTCCCTCGGGAACCTTCCAGTGTCTCCCACTGTCCTCGCGACCCCGTGGCCCTCACCTGGGTCCTGGGCTGGCAGCGGCTGCTCCCGATACGCCCCGTATTGCCGGTAGGAGGCTCCGTAGGTATATTCCGACTTGGGCGAGTAAGCGCCCGTGCCTGCAAGCCCATTGAGATTGAATTGGTGGTGGTAGGTGTAGGGGTTCACCGTCTGGCCATAGGGCTGGCCCGAGTAGTAATCGTGCTGGGGAGCGCTGTAGTAGCCCAGGTCAGTGACAGAAGACTCGGGCAGGGTAGGCGAGTCCTTGGAGCCCGCATGGCAGCTAAGGGAGCTGGAGATGTCGGTGAGGATGCTGCTGAGCTTGCGATCGAAGGAGCCACTCATCCTGGCGGGCGCTGCACCTCCCCAGGGCTGGCCTCCGCAGAGGACAGGAACGGACCGGAGTGCGAGAGAGGCGGAAGAGACGAGGCAGGGGTGTGTGTCCAGAAGGCGAAGGGAGGACCCGGCCGCGTCTGGGGGGAGGGGGAGGCCGAGAGGCGCTTACACCATTGCCTGCCGTCAGGCGGTCGCTGCGCGCCTCTCCTCGCGTCCCAAGCCACAATCAAATGCTGCCAGCTCCGCCCGGCCAGCCGGTTATAGACTCAATAGTGGAGTCGCCGAGGGAGGCTCCTACGCGCTGATTGGCTGCAAGTCTTGCCTTCCAGGCAAAACACGCTTTTGCTCTCTCGCTCCTATGCTCTCCTCTCTCTCTCTCTCTCCCTTTTCCTTCTCTCCTCCCTCCTCTCTCTTCTTTTTCCCCAGTCTTTGTTGTTACTCAAAACACACACACACACACACACACACACACACACCCTCGCTACTCTTGTAGCTCCA
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GGCAAGGGAGGGGGAAAGGGAGTTCCTTTTCCCTGTGCTCCTCGATGATTCCTGAGTGGCTAGGACGGAGGCGCCTTCTGCCTGGTCCTGGGGTCCTTTGTCAAGGGTGCAGGCCAGATGGGTGCTCAGTACACAGCCCCAGGGTTGGGCGGGGGCCCGGGAGAGGCATGGTGCAGGGTGGCTGGCTGAGGCGGCTGCTGCTGTAAGTGGGGTCCACTCAGGTTCTGTGCGTGATACCAGGAGTTGGTGGGGTCGTCCAGGTAGCTGGGGGAGGCACTGTATGGGAGCGGCGGGGGCAGCTGACTGCGGGCAGGGGCCGGAGTGGAGTGGGAAGAGGTGTCCCAGAGGGCGGGTGATGGTGGTGAGTTGCAGGCCATGGAATCACTGTTATTGGGACTGTGCTCCAGCGGCACCTCCCCGTTCTTGTAGAGTTTCTTGAACTTGGAACGGCGGTTCTGGAACCAGATTTTCACCTGGGCCAGAGAAGAAAGGGGTAGCTAGTTAGCCTCTCAGAATGCTAAAACAACCCTGGGAAGAACCTAGCCAAGAAAAAGAAAGGCCAGAACCCAATTTCACATAAGAATCAGGCAAAAAACAGGCCTCCTGACTCCCAGTTTCTTGGATCTGGGATAGAATTGTGGCTAGGAACGTTCAGCTGCCTGGGTCCAAATTCTGCTCTGTCACTTACTAAGCGTGACCTTGGGCAAGTTGTTTAACCTCTCTTGTTCTTGACTTCCTCTTGTCTGCAAAATGGGGATGAGAACAGCACTATTACCTGCCTCATAGGGTCATTCTGAGGCTCAAATAAGGTACGACATATAAAAAACTTAAAGCAGCCTGGTATGTAGTAAGCACTCAATAAAAGGCCGTTGAGGTGGGAGATGGACGGTTTGTAGCATTTCATTCACATTAGACACCCATAAGCAGAGGTGCACAGATACACAGAGACAAACACACCCACATACACATCTCCATACCCAGCCACGTTCCCACTCACAGCCTCACACACAGACACCAGACAATAAAAATACACGCAGACACAGATACACCCAGATAAGCACCCCACAACATGAGCACCCACATTCACACACTCAGGTGTGGAGAAGTTCTCCTGGGCTCGGGCTGGATAATGGGGGTGACCTGGGGACTCAGGAGCAGGTGAGCCATGATTCCCCAAATTTCCCCTGGGGTATCTCCCCCTCCCCCTGCCACTCCCCACCCCATGACTGGTACAAACAATGAATCAGCTCCTCACCAGGTGACCCAGATTCCCGGCGGATGGGGCCCCACGCAGCCACAGCCACAACCTAGGCCCGCCTGTCAACACCTGGAGGGAGCCAGGCATCCACTGCTCCTCCCCTGAGCAGTGACAGGCTGCTGGGGGCTTTAGGGACTGGATGAGGGTGGGGGTGCGGCACTCACTTTTGAGTCCCCATCTCCTTCAGGTAGGGAATTTGGCCTCTCTTGAGCGTTCAAGTGCTGAGCAGGAATGTGGTATTTTGATGCAAGCACACATTTCTGAACATGCATTCAGAACGCATATACATTCAGGGCGCACAGTCACACACACATGCCCCCATCGTTATGCACAATGACCCCGGCAGGATCACACTCCTTACATGAGCATCCTCCGGTGCATGCAGACCCACACAGCATGTGTGCAAACACACTCGCCTATACATGCACACAGACAGTCTGCACACATGCCTAGCCTGGAGGGAAAACACGATGTGGACTCCTACTAAGTGACTAGCACTGCTGGGGGACTTGGGAGCTGGGAATTCTGGAGTAGGGGAACATACACAGTTGCACGGGTTCACAACTATGCTCACTTGTACACGTGCTAACGCAGAACCTTCCCACCGAAGTTGAACCTCGCAGGCCCCCATCCCAAAGGCAAGAGTTCCAGGAGCCCGCAGGGCCCTTCAGTGGCCAGCCAGGCTCGGCAGCGCGCGGGGAACTACGGGGTCCCGCGCGCCCCCGCGGCCCTGGACAGCCAAACACCAACCTGTGTCTGCGTGAGGCCCAGCTGCGCGGCCAGCTCGGCGAGCTCGGGCAGCGCCAGGTACTGGGCCTTCTGGAAGCGGCGCTGCAGGGCGGCCAGCTGGTAGCTGGAGTAGATCGTACGCGGCTTTCGGACCTTCTTGGGCTTCCCATTCACCATGCGCACCTCTGCTTCCGGCTCCTCCTTCACCGACACTGCGGGGAACGCACCGGGCGGAAGAGGGGGCGGTTCAGCCTCGGCCTGCGACTCCTGCGACCCTCCAGGGCCCCGCCGGACGCCCCTCGCTTCCGCCCACCGACTCGCCGCGGGATTCCCGGCCGCGCGCTCCGCTGCCCGCGGCCCAGGGGGGAGCCGCGGCCCCAGAGCCAGAACTGGCCGCGGCCCACAACGCGGCGCTCCCAGCTCCGCGCCCGGCCGCCGCAGCACTGTCCCCGGCGCCAGCCGCCGCCTGCGCCAGGACCGCCTCGGCTTCGCTCACGACGCCTTCCCGGCTCGCCTCCCAGCCTCGGGGCTCCTCGCCGCCCGGCTGCTAGCCGCCCCCTTCCCAGTCCCATCTCGCCGTCGGTTGTTTCTCTCGCTCCTTCCCGTCCGCCCCCCGCCCTTTAAAAAAGTTTCATTTTAGAATCTCTTTAGATTTTCAGAAAAGTTGCAAGGATAGTGCAGACTTTCTTTCTTTCCCTGTCCCCCTTCTTCCCCCCTTCCTTCTCTCCTTCCTTTCTTGTTTCTTCTGCCCTTTCTCTCACTGTCTTTCCATACTTCCCTCTTGCTGCCTTCACTTTTCCCTTTTTCAGCTTCTCTGCCTCTCGGTGGCTGCTTCCCTCCGCTTTCCCGCAACTTCCGTGGGTCCTTCTCATTGCCCCCTCACGACTCCTAGTCTCCCCATCCCTTATCCAAAGGAGGGCCCCTAGAGTTTCCAGCCCCTGCCGCCTACCCCCAAGCCCTCTGCGACTTGATCGAGGATCGCCTGCTGAAATGCCCACGAAATCACCTCGATTCGGAGGTTTCCTAACAACCCACAGCCTTCCCCTTCCTCTCTCAGCTCATCCCGATCCTCATCCGGGACCGCGGCGCACTGCGCACATCGCGCCCCAAATGCTTGCACACCCGGGGCTGGAAGGTCGCCTGGTCCCTCTGAGGGTCATCTAGGCCAACTTCTCTAACTCCAGACAGTACTTTTCTTAGAAGTTTTCCTAGATTTTGGCTTCCAGTCCATGCCTTTTCCTCCCTCGGGAACCTTCCAGTGTCTCCCACTGTCCTCGCGACCCCGTGGCCCTCACCTGGGTCCTGGGCTGGCAGCGGCTGCTCCCGATACGCCCCGTATTGCCGGTAGGAGGCTCCGTAGGTATATTCCGACTTGGGCGAGTAAGCGCCCGTGCCTGCAAGCCCATTGAGATTGAATTGGTGGTGGTAGGTGTAGGGGTTCACCGTCTGGCCATAGGGCTGGCCCGAGTAGTAATCGTGCTGGGGAGCGCTGTAGTAGCCCAGGTCAGTGACAGAAGACTCGGGCAGGGTAGGCGAGTCCTTGGAGCCCGCATGGCAGCTAAGGGAGCTGGAGATGTCGGTGAGGATGCTGCTGAGCTTGCGATCGAAGGAGCCACTCATCCTGGCGGGCGCTGCACCTCCCCAGGGCTGGCCTCCGCAGAGGACAGGAACGGACCGGAGTGCGAGAGAGGCGGAAGAGACGAGGCAGGGGTGTGTGTCCAGAAGGCGAAGGGAGGACCCGGCCGCGTCTGGGGGGAGGGGGAGGCCGAGAGGCGCTTACACCATTGCCTGCCGTCAGGCGGTCGCTGCGCGCCTCTCCTCGCGTCCCAAGCCACAATCAAATGCTGCCAGCTCCGCCCGGCCAGCCGGTTATAGACTCAATAGTGGAGTCGCCGAGGGAGGCTCCTACGCGCTGATTGGCTGCAAGTCTTGCCTTCCAGGCAAAACACGCTTTTGCTCTCTCGCTCCTATGCTCTCCTCTCTCTCTCTCTCTCCCTTTTCCTTCTCTCCTCCCTCCTCTCTCTTCTTTTTCCCCAGTCTTTGTTGTTACTCAAAACACACACACACACACACACACACACACACACCCTCGCTACTCTTGTAGCTCCA
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Task1_train_24865
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Given this variant in gene DLX3 (distal-less homeobox 3) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Tricho-dento-osseous syndrome
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GGCAAGGGAGGGGGAAAGGGAGTTCCTTTTCCCTGTGCTCCTCGATGATTCCTGAGTGGCTAGGACGGAGGCGCCTTCTGCCTGGTCCTGGGGTCCTTTGTCAAGGGTGCAGGCCAGATGGGTGCTCAGTACACAGCCCCAGGGTTGGGCGGGGGCCCGGGAGAGGCATGGTGCAGGGTGGCTGGCTGAGGCGGCTGCTGCTGTAAGTGGGGTCCACTCAGGTTCTGTGCGTGATACCAGGAGTTGGTGGGGTCGTCCAGGTAGCTGGGGGAGGCACTGTATGGGAGCGGCGGGGGCAGCTGACTGCGGGCAGGGGCCGGAGTGGAGTGGGAAGAGGTGTCCCAGAGGGCGGGTGATGGTGGTGAGTTGCAGGCCATGGAATCACTGTTATTGGGACTGTGCTCCAGCGGCACCTCCCCGTTCTTGTAGAGTTTCTTGAACTTGGAACGGCGGTTCTGGAACCAGATTTTCACCTGGGCCAGAGAAGAAAGGGGTAGCTAGTTAGCCTCTCAGAATGCTAAAACAACCCTGGGAAGAACCTAGCCAAGAAAAAGAAAGGCCAGAACCCAATTTCACATAAGAATCAGGCAAAAAACAGGCCTCCTGACTCCCAGTTTCTTGGATCTGGGATAGAATTGTGGCTAGGAACGTTCAGCTGCCTGGGTCCAAATTCTGCTCTGTCACTTACTAAGCGTGACCTTGGGCAAGTTGTTTAACCTCTCTTGTTCTTGACTTCCTCTTGTCTGCAAAATGGGGATGAGAACAGCACTATTACCTGCCTCATAGGGTCATTCTGAGGCTCAAATAAGGTACGACATATAAAAAACTTAAAGCAGCCTGGTATGTAGTAAGCACTCAATAAAAGGCCGTTGAGGTGGGAGATGGACGGTTTGTAGCATTTCATTCACATTAGACACCCATAAGCAGAGGTGCACAGATACACAGAGACAAACACACCCACATACACATCTCCATACCCAGCCACGTTCCCACTCACAGCCTCACACACAGACACCAGACAATAAAAATACACGCAGACACAGATACACCCAGATAAGCACCCCACAACATGAGCACCCACATTCACACACTCAGGTGTGGAGAAGTTCTCCTGGGCTCGGGCTGGATAATGGGGGTGACCTGGGGACTCAGGAGCAGGTGAGCCATGATTCCCCAAATTTCCCCTGGGGTATCTCCCCCTCCCCCTGCCACTCCCCACCCCATGACTGGTACAAACAATGAATCAGCTCCTCACCAGGTGACCCAGATTCCCGGCGGATGGGGCCCCACGCAGCCACAGCCACAACCTAGGCCCGCCTGTCAACACCTGGAGGGAGCCAGGCATCCACTGCTCCTCCCCTGAGCAGTGACAGGCTGCTGGGGGCTTTAGGGACTGGATGAGGGTGGGGGTGCGGCACTCACTTTTGAGTCCCCATCTCCTTCAGGTAGGGAATTTGGCCTCTCTTGAGCGTTCAAGTGCTGAGCAGGAATGTGGTATTTTGATGCAAGCACACATTTCTGAACATGCATTCAGAACGCATATACATTCAGGGCGCACAGTCACACACACATGCCCCCATCGTTATGCACAATGACCCCGGCAGGATCACACTCCTTACATGAGCATCCTCCGGTGCATGCAGACCCACACAGCATGTGTGCAAACACACTCGCCTATACATGCACACAGACAGTCTGCACACATGCCTAGCCTGGAGGGAAAACACGATGTGGACTCCTACTAAGTGACTAGCACTGCTGGGGGACTTGGGAGCTGGGAATTCTGGAGTAGGGGAACATACACAGTTGCACGGGTTCACAACTATGCTCACTTGTACACGTGCTAACGCAGAACCTTCCCACCGAAGTTGAACCTCGCAGGCCCCCATCCCAAAGGCAAGAGTTCCAGGAGCCCGCAGGGCCCTTCAGTGGCCAGCCAGGCTCGGCAGCGCGCGGGGAACTACGGGGTCCCGCGCGCCCCCGCGGCCCTGGACAGCCAAACACCAACCTGTGTCTGCGTGAGGCCCAGCTGCGCGGCCAGCTCGGCGCGCTCGGGCAGCGCCAGGTACTGGGCCTTCTGGAAGCGGCGCTGCAGGGCGGCCAGCTGGTAGCTGGAGTAGATCGTACGCGGCTTTCGGACCTTCTTGGGCTTCCCATTCACCATGCGCACCTCTGCTTCCGGCTCCTCCTTCACCGACACTGCGGGGAACGCACCGGGCGGAAGAGGGGGCGGTTCAGCCTCGGCCTGCGACTCCTGCGACCCTCCAGGGCCCCGCCGGACGCCCCTCGCTTCCGCCCACCGACTCGCCGCGGGATTCCCGGCCGCGCGCTCCGCTGCCCGCGGCCCAGGGGGGAGCCGCGGCCCCAGAGCCAGAACTGGCCGCGGCCCACAACGCGGCGCTCCCAGCTCCGCGCCCGGCCGCCGCAGCACTGTCCCCGGCGCCAGCCGCCGCCTGCGCCAGGACCGCCTCGGCTTCGCTCACGACGCCTTCCCGGCTCGCCTCCCAGCCTCGGGGCTCCTCGCCGCCCGGCTGCTAGCCGCCCCCTTCCCAGTCCCATCTCGCCGTCGGTTGTTTCTCTCGCTCCTTCCCGTCCGCCCCCCGCCCTTTAAAAAAGTTTCATTTTAGAATCTCTTTAGATTTTCAGAAAAGTTGCAAGGATAGTGCAGACTTTCTTTCTTTCCCTGTCCCCCTTCTTCCCCCCTTCCTTCTCTCCTTCCTTTCTTGTTTCTTCTGCCCTTTCTCTCACTGTCTTTCCATACTTCCCTCTTGCTGCCTTCACTTTTCCCTTTTTCAGCTTCTCTGCCTCTCGGTGGCTGCTTCCCTCCGCTTTCCCGCAACTTCCGTGGGTCCTTCTCATTGCCCCCTCACGACTCCTAGTCTCCCCATCCCTTATCCAAAGGAGGGCCCCTAGAGTTTCCAGCCCCTGCCGCCTACCCCCAAGCCCTCTGCGACTTGATCGAGGATCGCCTGCTGAAATGCCCACGAAATCACCTCGATTCGGAGGTTTCCTAACAACCCACAGCCTTCCCCTTCCTCTCTCAGCTCATCCCGATCCTCATCCGGGACCGCGGCGCACTGCGCACATCGCGCCCCAAATGCTTGCACACCCGGGGCTGGAAGGTCGCCTGGTCCCTCTGAGGGTCATCTAGGCCAACTTCTCTAACTCCAGACAGTACTTTTCTTAGAAGTTTTCCTAGATTTTGGCTTCCAGTCCATGCCTTTTCCTCCCTCGGGAACCTTCCAGTGTCTCCCACTGTCCTCGCGACCCCGTGGCCCTCACCTGGGTCCTGGGCTGGCAGCGGCTGCTCCCGATACGCCCCGTATTGCCGGTAGGAGGCTCCGTAGGTATATTCCGACTTGGGCGAGTAAGCGCCCGTGCCTGCAAGCCCATTGAGATTGAATTGGTGGTGGTAGGTGTAGGGGTTCACCGTCTGGCCATAGGGCTGGCCCGAGTAGTAATCGTGCTGGGGAGCGCTGTAGTAGCCCAGGTCAGTGACAGAAGACTCGGGCAGGGTAGGCGAGTCCTTGGAGCCCGCATGGCAGCTAAGGGAGCTGGAGATGTCGGTGAGGATGCTGCTGAGCTTGCGATCGAAGGAGCCACTCATCCTGGCGGGCGCTGCACCTCCCCAGGGCTGGCCTCCGCAGAGGACAGGAACGGACCGGAGTGCGAGAGAGGCGGAAGAGACGAGGCAGGGGTGTGTGTCCAGAAGGCGAAGGGAGGACCCGGCCGCGTCTGGGGGGAGGGGGAGGCCGAGAGGCGCTTACACCATTGCCTGCCGTCAGGCGGTCGCTGCGCGCCTCTCCTCGCGTCCCAAGCCACAATCAAATGCTGCCAGCTCCGCCCGGCCAGCCGGTTATAGACTCAATAGTGGAGTCGCCGAGGGAGGCTCCTACGCGCTGATTGGCTGCAAGTCTTGCCTTCCAGGCAAAACACGCTTTTGCTCTCTCGCTCCTATGCTCTCCTCTCTCTCTCTCTCTCCCTTTTCCTTCTCTCCTCCCTCCTCTCTCTTCTTTTTCCCCAGTCTTTGTTGTTACTCAAAACACACACACACACACACACACACACACACACCCTCGCTACTCTTGTAGCTCCA
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GGCAAGGGAGGGGGAAAGGGAGTTCCTTTTCCCTGTGCTCCTCGATGATTCCTGAGTGGCTAGGACGGAGGCGCCTTCTGCCTGGTCCTGGGGTCCTTTGTCAAGGGTGCAGGCCAGATGGGTGCTCAGTACACAGCCCCAGGGTTGGGCGGGGGCCCGGGAGAGGCATGGTGCAGGGTGGCTGGCTGAGGCGGCTGCTGCTGTAAGTGGGGTCCACTCAGGTTCTGTGCGTGATACCAGGAGTTGGTGGGGTCGTCCAGGTAGCTGGGGGAGGCACTGTATGGGAGCGGCGGGGGCAGCTGACTGCGGGCAGGGGCCGGAGTGGAGTGGGAAGAGGTGTCCCAGAGGGCGGGTGATGGTGGTGAGTTGCAGGCCATGGAATCACTGTTATTGGGACTGTGCTCCAGCGGCACCTCCCCGTTCTTGTAGAGTTTCTTGAACTTGGAACGGCGGTTCTGGAACCAGATTTTCACCTGGGCCAGAGAAGAAAGGGGTAGCTAGTTAGCCTCTCAGAATGCTAAAACAACCCTGGGAAGAACCTAGCCAAGAAAAAGAAAGGCCAGAACCCAATTTCACATAAGAATCAGGCAAAAAACAGGCCTCCTGACTCCCAGTTTCTTGGATCTGGGATAGAATTGTGGCTAGGAACGTTCAGCTGCCTGGGTCCAAATTCTGCTCTGTCACTTACTAAGCGTGACCTTGGGCAAGTTGTTTAACCTCTCTTGTTCTTGACTTCCTCTTGTCTGCAAAATGGGGATGAGAACAGCACTATTACCTGCCTCATAGGGTCATTCTGAGGCTCAAATAAGGTACGACATATAAAAAACTTAAAGCAGCCTGGTATGTAGTAAGCACTCAATAAAAGGCCGTTGAGGTGGGAGATGGACGGTTTGTAGCATTTCATTCACATTAGACACCCATAAGCAGAGGTGCACAGATACACAGAGACAAACACACCCACATACACATCTCCATACCCAGCCACGTTCCCACTCACAGCCTCACACACAGACACCAGACAATAAAAATACACGCAGACACAGATACACCCAGATAAGCACCCCACAACATGAGCACCCACATTCACACACTCAGGTGTGGAGAAGTTCTCCTGGGCTCGGGCTGGATAATGGGGGTGACCTGGGGACTCAGGAGCAGGTGAGCCATGATTCCCCAAATTTCCCCTGGGGTATCTCCCCCTCCCCCTGCCACTCCCCACCCCATGACTGGTACAAACAATGAATCAGCTCCTCACCAGGTGACCCAGATTCCCGGCGGATGGGGCCCCACGCAGCCACAGCCACAACCTAGGCCCGCCTGTCAACACCTGGAGGGAGCCAGGCATCCACTGCTCCTCCCCTGAGCAGTGACAGGCTGCTGGGGGCTTTAGGGACTGGATGAGGGTGGGGGTGCGGCACTCACTTTTGAGTCCCCATCTCCTTCAGGTAGGGAATTTGGCCTCTCTTGAGCGTTCAAGTGCTGAGCAGGAATGTGGTATTTTGATGCAAGCACACATTTCTGAACATGCATTCAGAACGCATATACATTCAGGGCGCACAGTCACACACACATGCCCCCATCGTTATGCACAATGACCCCGGCAGGATCACACTCCTTACATGAGCATCCTCCGGTGCATGCAGACCCACACAGCATGTGTGCAAACACACTCGCCTATACATGCACACAGACAGTCTGCACACATGCCTAGCCTGGAGGGAAAACACGATGTGGACTCCTACTAAGTGACTAGCACTGCTGGGGGACTTGGGAGCTGGGAATTCTGGAGTAGGGGAACATACACAGTTGCACGGGTTCACAACTATGCTCACTTGTACACGTGCTAACGCAGAACCTTCCCACCGAAGTTGAACCTCGCAGGCCCCCATCCCAAAGGCAAGAGTTCCAGGAGCCCGCAGGGCCCTTCAGTGGCCAGCCAGGCTCGGCAGCGCGCGGGGAACTACGGGGTCCCGCGCGCCCCCGCGGCCCTGGACAGCCAAACACCAACCTGTGTCTGCGTGAGGCCCAGCTGCGCGGCCAGCTCGGCGAGCTCGGGCAGCGCCAGGTACTGGGCCTTCTGGAAGCGGCGCTGCAGGGCGGCCAGCTGGTAGCTGGAGTAGATCGTACGCGGCTTTCGGACCTTCTTGGGCTTCCCATTCACCATGCGCACCTCTGCTTCCGGCTCCTCCTTCACCGACACTGCGGGGAACGCACCGGGCGGAAGAGGGGGCGGTTCAGCCTCGGCCTGCGACTCCTGCGACCCTCCAGGGCCCCGCCGGACGCCCCTCGCTTCCGCCCACCGACTCGCCGCGGGATTCCCGGCCGCGCGCTCCGCTGCCCGCGGCCCAGGGGGGAGCCGCGGCCCCAGAGCCAGAACTGGCCGCGGCCCACAACGCGGCGCTCCCAGCTCCGCGCCCGGCCGCCGCAGCACTGTCCCCGGCGCCAGCCGCCGCCTGCGCCAGGACCGCCTCGGCTTCGCTCACGACGCCTTCCCGGCTCGCCTCCCAGCCTCGGGGCTCCTCGCCGCCCGGCTGCTAGCCGCCCCCTTCCCAGTCCCATCTCGCCGTCGGTTGTTTCTCTCGCTCCTTCCCGTCCGCCCCCCGCCCTTTAAAAAAGTTTCATTTTAGAATCTCTTTAGATTTTCAGAAAAGTTGCAAGGATAGTGCAGACTTTCTTTCTTTCCCTGTCCCCCTTCTTCCCCCCTTCCTTCTCTCCTTCCTTTCTTGTTTCTTCTGCCCTTTCTCTCACTGTCTTTCCATACTTCCCTCTTGCTGCCTTCACTTTTCCCTTTTTCAGCTTCTCTGCCTCTCGGTGGCTGCTTCCCTCCGCTTTCCCGCAACTTCCGTGGGTCCTTCTCATTGCCCCCTCACGACTCCTAGTCTCCCCATCCCTTATCCAAAGGAGGGCCCCTAGAGTTTCCAGCCCCTGCCGCCTACCCCCAAGCCCTCTGCGACTTGATCGAGGATCGCCTGCTGAAATGCCCACGAAATCACCTCGATTCGGAGGTTTCCTAACAACCCACAGCCTTCCCCTTCCTCTCTCAGCTCATCCCGATCCTCATCCGGGACCGCGGCGCACTGCGCACATCGCGCCCCAAATGCTTGCACACCCGGGGCTGGAAGGTCGCCTGGTCCCTCTGAGGGTCATCTAGGCCAACTTCTCTAACTCCAGACAGTACTTTTCTTAGAAGTTTTCCTAGATTTTGGCTTCCAGTCCATGCCTTTTCCTCCCTCGGGAACCTTCCAGTGTCTCCCACTGTCCTCGCGACCCCGTGGCCCTCACCTGGGTCCTGGGCTGGCAGCGGCTGCTCCCGATACGCCCCGTATTGCCGGTAGGAGGCTCCGTAGGTATATTCCGACTTGGGCGAGTAAGCGCCCGTGCCTGCAAGCCCATTGAGATTGAATTGGTGGTGGTAGGTGTAGGGGTTCACCGTCTGGCCATAGGGCTGGCCCGAGTAGTAATCGTGCTGGGGAGCGCTGTAGTAGCCCAGGTCAGTGACAGAAGACTCGGGCAGGGTAGGCGAGTCCTTGGAGCCCGCATGGCAGCTAAGGGAGCTGGAGATGTCGGTGAGGATGCTGCTGAGCTTGCGATCGAAGGAGCCACTCATCCTGGCGGGCGCTGCACCTCCCCAGGGCTGGCCTCCGCAGAGGACAGGAACGGACCGGAGTGCGAGAGAGGCGGAAGAGACGAGGCAGGGGTGTGTGTCCAGAAGGCGAAGGGAGGACCCGGCCGCGTCTGGGGGGAGGGGGAGGCCGAGAGGCGCTTACACCATTGCCTGCCGTCAGGCGGTCGCTGCGCGCCTCTCCTCGCGTCCCAAGCCACAATCAAATGCTGCCAGCTCCGCCCGGCCAGCCGGTTATAGACTCAATAGTGGAGTCGCCGAGGGAGGCTCCTACGCGCTGATTGGCTGCAAGTCTTGCCTTCCAGGCAAAACACGCTTTTGCTCTCTCGCTCCTATGCTCTCCTCTCTCTCTCTCTCTCCCTTTTCCTTCTCTCCTCCCTCCTCTCTCTTCTTTTTCCCCAGTCTTTGTTGTTACTCAAAACACACACACACACACACACACACACACACACCCTCGCTACTCTTGTAGCTCCA
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Task1_train_24866
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A variant was discovered in gene SGCA (sarcoglycan alpha), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D
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ACAAACGTGACAAGATCCTAGTCTTCGAGGAGCTTGGAGCAGTCTGTGTGATTGTGTTGTGCCCAGGAAAGCACGCAGGGGCTAAGGGGACACCCAGCTTGGCCTAGCAGAAGAAGGGAGGTCAGAAAGGCTTCAGAGAGGAGAGGACATCTGTGCAGAGTCTGGAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGTCCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACA
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ACAAACGTGACAAGATCCTAGTCTTCGAGGAGCTTGGAGCAGTCTGTGTGATTGTGTTGTGCCCAGGAAAGCACGCAGGGGCTAAGGGGACACCCAGCTTGGCCTAGCAGAAGAAGGGAGGTCAGAAAGGCTTCAGAGAGGAGAGGACATCTGTGCAGAGTCTGGAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGTCCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGCGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACA
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Task1_train_24867
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A variant was discovered in gene SGCA (sarcoglycan alpha), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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GTGACAAGATCCTAGTCTTCGAGGAGCTTGGAGCAGTCTGTGTGATTGTGTTGTGCCCAGGAAAGCACGCAGGGGCTAAGGGGACACCCAGCTTGGCCTAGCAGAAGAAGGGAGGTCAGAAAGGCTTCAGAGAGGAGAGGACATCTGTGCAGAGTCTGGAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGTCCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGG
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GTGACAAGATCCTAGTCTTCGAGGAGCTTGGAGCAGTCTGTGTGATTGTGTTGTGCCCAGGAAAGCACGCAGGGGCTAAGGGGACACCCAGCTTGGCCTAGCAGAAGAAGGGAGGTCAGAAAGGCTTCAGAGAGGAGAGGACATCTGTGCAGAGTCTGGAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGTCCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCATGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGG
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Task1_train_24868
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This alteration in SGCA (sarcoglycan alpha) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D
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GAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGTCCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTA
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GAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGTCCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGAACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTA
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Task1_train_24869
|
A genomic change on Chromosome 17 affects SGCA (sarcoglycan alpha). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D
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CAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGTCCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTATAAACCAAAGATGCT
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CAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGTCCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCGCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTATAAACCAAAGATGCT
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Task1_train_24870
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With a mutation on Chromosome 17 in gene SGCA (sarcoglycan alpha), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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GCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGTCCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTATAAACCAAAGATGCTCACAACAGCTC
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GCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGTCCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCTGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTATAAACCAAAGATGCTCACAACAGCTC
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Task1_train_24871
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A change on Chromosome 17 affects gene SGCA (sarcoglycan alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D
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GAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGTCCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTATAAACCAAAGATGCTCACAACAGCTCTTTGGATACTGAGCTGAGGTTCACAGGATCCCACGGCTGGTGTACACTGTTCCTGTGAATTGA
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GAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTCTCCTCCCTGCCCCCTGTCTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACTCCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAGGATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGTGAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGAATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGTCCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATGGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTATAAACCAAAGATGCTCACAACAGCTCTTTGGATACTGAGCTGAGGTTCACAGGATCCCACGGCTGGTGTACACTGTTCCTGTGAATTGA
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Task1_train_24872
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Here is a variant affecting SGCA (sarcoglycan alpha) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D
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GGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTATAAACCAAAGATGCTCACAACAGCTCTTTGGATACTGAGCTGAGGTTCACAGGATCCCACGGCTGGTGTACACTGTTCCTGTGAATTGACCAACAGAGCAGGGACTCATTCAGGGTCCACAGCCAGCGACTGGTAATTGACAACATTCTTGAGCACTTGCTATGTGCTTGGCACTGTCCCATCAACATATTTTATGCTCACCACCACTCCAGGAGACAGGTGCTACTATTATCCTTCTGACATTACAGGTGATGAAACAGAGGCACATAATCATCCTAGCTAAGCACTTGTCTGAGTCTGGATTCAAACCAGGAGGTCAGACCCTAGAGCTGTGCGCTAACCAGTGCACTGTCCCGCCTCTGCTGGACTTTGTGTCTCCTGCCTCCTAGTCCTGGCCCCTGCCATGTTCCTGGGGACCTCTGTGTCCAGCCAGCCACTTCCTGCGTCAGCCCTGAGCTCTCTGTGCAGGTGGATAAGTCAGTGCCGGAGCCTGCAGATGAGGTGCCCACCCCAGGTGATGGGATCCTGGAGCATGACCCGTTCTTCTGCCCACCCACTGAGGCCCCAGACCGTGACTTCTTGGTGGATGCTCTGGTCACCCTCCTGGTGCCCCTGCTGGTGGCCCTGCTTCTCACCTTGCTGCTGGCCTATGTCATGTGCTGCCGGCGGGAGGGAAGGTGAATGTGGGCATGAAGGGCGGGGGAGCACCTGCTGGAGCTCACACCCATGGGACTCACAGTGGCACTTGTGCTGTATGGGACCCAGACACCA
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GGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGGGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTATAAACCAAAGATGCTCACAACAGCTCTTTGGATACTGAGCTGAGGTTCACAGGATCCCACGGCTGGTGTACACTGTTCCTGTGAATTGACCAACAGAGCAGGGACTCATTCAGGGTCCACAGCCAGCGACTGGTAATTGACAACATTCTTGAGCACTTGCTATGTGCTTGGCACTGTCCCATCAACATATTTTATGCTCACCACCACTCCAGGAGACAGGTGCTACTATTATCCTTCTGACATTACAGGTGATGAAACAGAGGCACATAATCATCCTAGCTAAGCACTTGTCTGAGTCTGGATTCAAACCAGGAGGTCAGACCCTAGAGCTGTGCGCTAACCAGTGCACTGTCCCGCCTCTGCTGGACTTTGTGTCTCCTGCCTCCTAGTCCTGGCCCCTGCCATGTTCCTGGGGACCTCTGTGTCCAGCCAGCCACTTCCTGCGTCAGCCCTGAGCTCTCTGTGCAGGTGGATAAGTCAGTGCCGGAGCCTGCAGATGAGGTGCCCACCCCAGGTGATGGGATCCTGGAGCATGACCCGTTCTTCTGCCCACCCACTGAGGCCCCAGACCGTGACTTCTTGGTGGATGCTCTGGTCACCCTCCTGGTGCCCCTGCTGGTGGCCCTGCTTCTCACCTTGCTGCTGGCCTATGTCATGTGCTGCCGGCGGGAGGGAAGGTGAATGTGGGCATGAAGGGCGGGGGAGCACCTGCTGGAGCTCACACCCATGGGACTCACAGTGGCACTTGTGCTGTATGGGACCCAGACACCA
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Task1_train_24873
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This variant impacts the gene SGCA (sarcoglycan alpha) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D
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CCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTATAAACCAAAGATGCTCACAACAGCTCTTTGGATACTGAGCTGAGGTTCACAGGATCCCACGGCTGGTGTACACTGTTCCTGTGAATTGACCAACAGAGCAGGGACTCATTCAGGGTCCACAGCCAGCGACTGGTAATTGACAACATTCTTGAGCACTTGCTATGTGCTTGGCACTGTCCCATCAACATATTTTATGCTCACCACCACTCCAGGAGACAGGTGCTACTATTATCCTTCTGACATTACAGGTGATGAAACAGAGGCACATAATCATCCTAGCTAAGCACTTGTCTGAGTCTGGATTCAAACCAGGAGGTCAGACCCTAGAGCTGTGCGCTAACCAGTGCACTGTCCCGCCTCTGCTGGACTTTGTGTCTCCTGCCTCCTAGTCCTGGCCCCTGCCATGTTCCTGGGGACCTCTGTGTCCAGCCAGCCACTTCCTGCGTCAGCCCTGAGCTCTCTGTGCAGGTGGATAAGTCAGTGCCGGAGCCTGCAGATGAGGTGCCCACCCCAGGTGATGGGATCCTGGAGCATGACCCGTTCTTCTGCCCACCCACTGAGGCCCCAGACCGTGACTTCTTGGTGGATGCTCTGGTCACCCTCCTGGTGCCCCTGCTGGTGGCCCTGCTTCTCACCTTGCTGCTGGCCTATGTCATGTGCTGCCGGCGGGAGGGAAGGTGAATGTGGGCATGAAGGGCGGGGGAGCACCTGCTGGAGCTCACACCCATGGGACTCACAGTGGCACTTGTGCTGTATGGGACCCAGACACCATGGGAATGGGGTTCTCAGGCACAAAAGGAGTGTGGGGCCCCTTTCTAGGCAACTTGGGGCTTGAGACCTGCCTGGCCTGGCACCAGGAGGGCATTGTGGATAATTGCACACAGA
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CCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCACACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAACACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACACACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACACACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCAAACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTTGTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAGGGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCTCTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGACTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTGGGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCTCTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGGCTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTCAGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCGGCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCTTCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGAGAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAATGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACTATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGCCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTATAAACCAAAGATGCTCACAACAGCTCTTTGGATACTGAGCTGAGGTTCACAGGATCCCACGGCTGGTGTACACTGTTCCTGTGAATTGACCAACAGAGCAGGGACTCATTCAGGGTCCACAGCCAGCGACTGGTAATTGACAACATTCTTGAGCACTTGCTATGTGCTTGGCACTGTCCCATCAACATATTTTATGCTCACCACCACTCCAGGAGACAGGTGCTACTATTATCCTTCTGACATTACAGGTGATGAAACAGAGGCACATAATCATCCTAGCTAAGCACTTGTCTGAGTCTGGATTCAAACCAGGAGGTCAGACCCTAGAGCTGTGCGCTAACCAGTGCACTGTCCCGCCTCTGCTGGACTTTGTGTCTCCTGCCTCCTAGTCCTGGCCCCTGCCATGTTCCTGGGGACCTCTGTGTCCAGCCAGCCACTTCCTGCGTCAGCCCTGAGCTCTCTGTGCAGGTGGATAAGTCAGTGCCGGAGCCTGCAGATGAGGTGCCCACCCCAGGTGATGGGATCCTGGAGCATGACCCGTTCTTCTGCCCACCCACTGAGGCCCCAGACCGTGACTTCTTGGTGGATGCTCTGGTCACCCTCCTGGTGCCCCTGCTGGTGGCCCTGCTTCTCACCTTGCTGCTGGCCTATGTCATGTGCTGCCGGCGGGAGGGAAGGTGAATGTGGGCATGAAGGGCGGGGGAGCACCTGCTGGAGCTCACACCCATGGGACTCACAGTGGCACTTGTGCTGTATGGGACCCAGACACCATGGGAATGGGGTTCTCAGGCACAAAAGGAGTGTGGGGCCCCTTTCTAGGCAACTTGGGGCTTGAGACCTGCCTGGCCTGGCACCAGGAGGGCATTGTGGATAATTGCACACAGA
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Task1_train_24874
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A mutation found in SGCA (sarcoglycan alpha) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D
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GATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTATAAACCAAAGATGCTCACAACAGCTCTTTGGATACTGAGCTGAGGTTCACAGGATCCCACGGCTGGTGTACACTGTTCCTGTGAATTGACCAACAGAGCAGGGACTCATTCAGGGTCCACAGCCAGCGACTGGTAATTGACAACATTCTTGAGCACTTGCTATGTGCTTGGCACTGTCCCATCAACATATTTTATGCTCACCACCACTCCAGGAGACAGGTGCTACTATTATCCTTCTGACATTACAGGTGATGAAACAGAGGCACATAATCATCCTAGCTAAGCACTTGTCTGAGTCTGGATTCAAACCAGGAGGTCAGACCCTAGAGCTGTGCGCTAACCAGTGCACTGTCCCGCCTCTGCTGGACTTTGTGTCTCCTGCCTCCTAGTCCTGGCCCCTGCCATGTTCCTGGGGACCTCTGTGTCCAGCCAGCCACTTCCTGCGTCAGCCCTGAGCTCTCTGTGCAGGTGGATAAGTCAGTGCCGGAGCCTGCAGATGAGGTGCCCACCCCAGGTGATGGGATCCTGGAGCATGACCCGTTCTTCTGCCCACCCACTGAGGCCCCAGACCGTGACTTCTTGGTGGATGCTCTGGTCACCCTCCTGGTGCCCCTGCTGGTGGCCCTGCTTCTCACCTTGCTGCTGGCCTATGTCATGTGCTGCCGGCGGGAGGGAAGGTGAATGTGGGCATGAAGGGCGGGGGAGCACCTGCTGGAGCTCACACCCATGGGACTCACAGTGGCACTTGTGCTGTATGGGACCCAGACACCATGGGAATGGGGTTCTCAGGCACAAAAGGAGTGTGGGGCCCCTTTCTAGGCAACTTGGGGCTTGAGACCTGCCTGGCCTGGCACCAGGAGGGCATTGTGGATAATTGCACACAGACCTCCACTCACATTGGAGCCCTGGGGCACCTTGGGGCGAAACCCAGAGCTGGGCTAACCCTCTCCTTCACTTTTCCACAGGCTGAAGAGAGACCTGGCTACCTCCGAGTGAGTAAAGGAAAGCTGGGGGTGGGGTGGGAGCCCACCTAGACAGTTGTTGGACCCCGCCACCAAACTATGCCATGAACAGCAGAGACAAAATAAATAACTCCAGGGTGATGCTCACCCCTTCCCTTGACCTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGGTTGAGCCTGGAAGTTTGAGGCCAGCCTGGGCAACACAGTGAGACCCCATCTCAACAAAAAAAAAATTTTTTAACTAGCCAGGCGTGGTGGAGCATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGATAGGAGAATCGCTTGAGCCTGGGAGATTGAGGCTGCAGTGAGCCGTAATCGTGCCACGGCACTCCAGCCTGGGCGACAGAGTGAAACTCTTTCCCCCAAAAAAGAAAAGCCTGTTGTGACACAGGGGAATGGGACCTGCTGCCACTCTGGGGGAAAGGGCTTGAGAAGCAACTTAAGAGACTCCCAGTATCAGTATGAGTCAGACACCTGCGGTCCAGGCCAGGCTCTGCCACACAATTACTCTGTCACCCTTCTTTCTGGCTTCAGATGCTCCACCTGCAAGATCACGAGGTTGGACTAGCTGGTGTCTATGAGTGCTTCCAATTCTGCCAGCCCTTTCCAAATCCTTCCTCTCTTATTTTGGCCTGGTTTCCCCTACTCATGGCCTTACCCCTCCTATGTGCCCCCAGCCCTCTTCCTCTCCCAATACCCTGAACCCTAGATTCCAGGAGGCAGATGTGAAATAAGTTATGTTCCTTTTATTCCCACTGCACTGAGCCAATGGCGGTCTTGGCACCCCTGACTGCTTGCCTGGCCTGCCTCATTAATTGCAGTGGCACTTGGCCACCCTTCGAACCCCCTTGATAAGCCGCTTGTGCCCCTGTTTGGAGCCCAGTAGTGACCTGTGCTGTCCAAAGGGGCGCTGCCCAGAGCGCCACCTCTGCTGTCGTTGCCTCTTGACCTTGAGCTTGGACTTGGAGGCCTGCTTCTTGCCCAGGGTGAAGGAGCCTGAGGCCCCCCTGCCGGTCACCTGCTGAGCCCTTGTCCACCAGCCCCTTGAGCACACGCTTGAAGTGATAGGCATTTCGGGCCATGTCGTAGCCCGTGGTGGAAACAGCCTTCTTCAGGGTGGCCAGGGACACATACTTGCAGGTCCCCTTGTCCGCCACAGCCCTCAGGATCACCTTGGACGTGCTGGGCTTCTGGCAGGGTTTGGCACAGGTGCGTTGCCCAGTCGCTGTCTTGCTAGGGACACGCTGCCCTGCTGGCCTCCACCCATGGCAGTATTTGAGTTCAACAGCACTGATGGAGACAGTGGCGAAGTGCCTTTCTGCTTCTCTCCCTGGGGTAGGTGAAGTGTCTTGGGTGCAAGGACCTCCAGGGCGGCTGGAAGTCTCCACTGGGCTGCCCCTCACAGGATGGCTGAGGTGTGTCCCGGTTCCTGGTCCTCGCTGAGGCTTCCTCTTGAGCTCCGGCCCTCACCTTTACCTGTGTGGCCAGAAAGAGGATCAAGGACGGTCACCCACGGCTGGCCTCCACAGACTTGTGCTCTTGGTGCAGGGGTTGGTGAGGTTATCTCTGTGGTGACCTCAGAGGCTACCAGAATTCTGTGTGGGTCACAGTGGCCCCATTGTTTCCTCCGGGGAGGGGTGGACCGG
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GATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCTCCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTCACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTACCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGACATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCACCATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTCCTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAATTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTGCTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTTTTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCAGCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCCCAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACCATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACACACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAGAGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACAGCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTCTGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCTCTTCACACTATAAACCAAAGATGCTCACAACAGCTCTTTGGATACTGAGCTGAGGTTCACAGGATCCCACGGCTGGTGTACACTGTTCCTGTGAATTGACCAACAGAGCAGGGACTCATTCAGGGTCCACAGCCAGCGACTGGTAATTGACAACATTCTTGAGCACTTGCTATGTGCTTGGCACTGTCCCATCAACATATTTTATGCTCACCACCACTCCAGGAGACAGGTGCTACTATTATCCTTCTGACATTACAGGTGATGAAACAGAGGCACATAATCATCCTAGCTAAGCACTTGTCTGAGTCTGGATTCAAACCAGGAGGTCAGACCCTAGAGCTGTGCGCTAACCAGTGCACTGTCCCGCCTCTGCTGGACTTTGTGTCTCCTGCCTCCTAGTCCTGGCCCCTGCCATGTTCCTGGGGACCTCTGTGTCCAGCCAGCCACTTCCTGCGTCAGCCCTGAGCTCTCTGTGCAGGTGGATAAGTCAGTGCCGGAGCCTGCAGATGAGGTGCCCACCCCAGGTGATGGGATCCTGGAGCATGACCCGTTCTTCTGCCCACCCACTGAGGCCCCAGACCGTGACTTCTTGGTGGATGCTCTGGTCACCCTCCTGGTGCCCCTGCTGGTGGCCCGGCTTCTCACCTTGCTGCTGGCCTATGTCATGTGCTGCCGGCGGGAGGGAAGGTGAATGTGGGCATGAAGGGCGGGGGAGCACCTGCTGGAGCTCACACCCATGGGACTCACAGTGGCACTTGTGCTGTATGGGACCCAGACACCATGGGAATGGGGTTCTCAGGCACAAAAGGAGTGTGGGGCCCCTTTCTAGGCAACTTGGGGCTTGAGACCTGCCTGGCCTGGCACCAGGAGGGCATTGTGGATAATTGCACACAGACCTCCACTCACATTGGAGCCCTGGGGCACCTTGGGGCGAAACCCAGAGCTGGGCTAACCCTCTCCTTCACTTTTCCACAGGCTGAAGAGAGACCTGGCTACCTCCGAGTGAGTAAAGGAAAGCTGGGGGTGGGGTGGGAGCCCACCTAGACAGTTGTTGGACCCCGCCACCAAACTATGCCATGAACAGCAGAGACAAAATAAATAACTCCAGGGTGATGCTCACCCCTTCCCTTGACCTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGGTTGAGCCTGGAAGTTTGAGGCCAGCCTGGGCAACACAGTGAGACCCCATCTCAACAAAAAAAAAATTTTTTAACTAGCCAGGCGTGGTGGAGCATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGATAGGAGAATCGCTTGAGCCTGGGAGATTGAGGCTGCAGTGAGCCGTAATCGTGCCACGGCACTCCAGCCTGGGCGACAGAGTGAAACTCTTTCCCCCAAAAAAGAAAAGCCTGTTGTGACACAGGGGAATGGGACCTGCTGCCACTCTGGGGGAAAGGGCTTGAGAAGCAACTTAAGAGACTCCCAGTATCAGTATGAGTCAGACACCTGCGGTCCAGGCCAGGCTCTGCCACACAATTACTCTGTCACCCTTCTTTCTGGCTTCAGATGCTCCACCTGCAAGATCACGAGGTTGGACTAGCTGGTGTCTATGAGTGCTTCCAATTCTGCCAGCCCTTTCCAAATCCTTCCTCTCTTATTTTGGCCTGGTTTCCCCTACTCATGGCCTTACCCCTCCTATGTGCCCCCAGCCCTCTTCCTCTCCCAATACCCTGAACCCTAGATTCCAGGAGGCAGATGTGAAATAAGTTATGTTCCTTTTATTCCCACTGCACTGAGCCAATGGCGGTCTTGGCACCCCTGACTGCTTGCCTGGCCTGCCTCATTAATTGCAGTGGCACTTGGCCACCCTTCGAACCCCCTTGATAAGCCGCTTGTGCCCCTGTTTGGAGCCCAGTAGTGACCTGTGCTGTCCAAAGGGGCGCTGCCCAGAGCGCCACCTCTGCTGTCGTTGCCTCTTGACCTTGAGCTTGGACTTGGAGGCCTGCTTCTTGCCCAGGGTGAAGGAGCCTGAGGCCCCCCTGCCGGTCACCTGCTGAGCCCTTGTCCACCAGCCCCTTGAGCACACGCTTGAAGTGATAGGCATTTCGGGCCATGTCGTAGCCCGTGGTGGAAACAGCCTTCTTCAGGGTGGCCAGGGACACATACTTGCAGGTCCCCTTGTCCGCCACAGCCCTCAGGATCACCTTGGACGTGCTGGGCTTCTGGCAGGGTTTGGCACAGGTGCGTTGCCCAGTCGCTGTCTTGCTAGGGACACGCTGCCCTGCTGGCCTCCACCCATGGCAGTATTTGAGTTCAACAGCACTGATGGAGACAGTGGCGAAGTGCCTTTCTGCTTCTCTCCCTGGGGTAGGTGAAGTGTCTTGGGTGCAAGGACCTCCAGGGCGGCTGGAAGTCTCCACTGGGCTGCCCCTCACAGGATGGCTGAGGTGTGTCCCGGTTCCTGGTCCTCGCTGAGGCTTCCTCTTGAGCTCCGGCCCTCACCTTTACCTGTGTGGCCAGAAAGAGGATCAAGGACGGTCACCCACGGCTGGCCTCCACAGACTTGTGCTCTTGGTGCAGGGGTTGGTGAGGTTATCTCTGTGGTGACCTCAGAGGCTACCAGAATTCTGTGTGGGTCACAGTGGCCCCATTGTTTCCTCCGGGGAGGGGTGGACCGG
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Task1_train_24875
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Given this context: Chromosome 17, gene COL1A1 (collagen type I alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Osteogenesis imperfecta type I
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CTCTCCCAGGTGTCTGTCTCCCTCACTCCCCCAGGGCCAGGACAGCGAGCAGGGAGCACGCCTTCCTCCTGGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAA
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CTCTCCCAGGTGTCTGTCTCCCTCACTCCCCCAGGGCCAGGACAGCGAGCAGGGAGCACGCCTTCCTCCTGGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACGGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAA
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Task1_train_24876
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With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Osteogenesis imperfecta type I
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GGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTG
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GGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATAGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTG
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Task1_train_24877
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This mutation is located in gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; COL1A1-related disorder
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GGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTG
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GGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATAGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTG
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Task1_train_24878
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With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Osteogenesis imperfecta type I
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GGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTG
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GGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATGGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTG
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Task1_train_24879
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With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Osteogenesis imperfecta type I
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CAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGA
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CAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGATTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGA
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Task1_train_24880
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Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance.
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Pathogenic; Osteogenesis imperfecta, perinatal lethal
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AGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCAC
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AGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCACCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCAC
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Task1_train_24881
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This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Osteogenesis imperfecta type I
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TGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGC
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TGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCGGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGC
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Task1_train_24882
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With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Osteogenesis imperfecta, perinatal lethal
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GTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCAC
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GTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAAAATAATTAAAAACATCTCAAATTATTATACACATACAAAATAGGTACAGAGTCTTTTGCTTCCTCCCACCCCTAGGGGGAAAAACTGCTTTGTGCTTTGGGAAGTTGTCTCTGAAACCCGGGGACAGAGGACGCAGGACAGACTAGGAGGGAGCCGGGAGGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGACCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCAC
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Task1_train_24883
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The gene COL1A1 (collagen type I alpha 1 chain), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Osteogenesis imperfecta, perinatal lethal
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GGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGAT
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GGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGCACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGAT
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Task1_train_24884
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A variant was discovered in gene COL1A1 (collagen type I alpha 1 chain), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Osteogenesis imperfecta type 2, thin-bone
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GTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTG
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GTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTAACAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTG
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Task1_train_24885
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This sequence variant lies in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Osteogenesis imperfecta type I
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GAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGG
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GAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACCCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGG
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Task1_train_24886
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The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; COL1A1-related disorder
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GAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGG
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GAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACCCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGG
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Task1_train_24887
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This is a variant in COL1A1 (collagen type I alpha 1 chain), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Osteoporosis
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGTTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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Task1_train_24888
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Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance.
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Pathogenic; Osteogenesis imperfecta type III
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGTTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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Task1_train_24889
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Here is a mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGTTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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Task1_train_24890
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A variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Infantile cortical hyperostosis
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGTTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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Task1_train_24891
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A variant has been detected on Chromosome 17 in COL1A1 (collagen type I alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGTTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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Task1_train_24892
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This sequence change occurs on Chromosome 17, altering COL1A1 (collagen type I alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGTTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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Task1_train_24893
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This variant lies on Chromosome 17 and affects the gene COL1A1 (collagen type I alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Osteogenesis imperfecta type I
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGTTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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Task1_train_24894
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Gene COL1A1 (collagen type I alpha 1 chain), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Osteogenesis imperfecta, perinatal lethal
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGTTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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Task1_train_24895
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This variant affects the gene COL1A1 (collagen type I alpha 1 chain) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Osteogenesis imperfecta type I
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGTTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGC
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Task1_train_24896
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The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Osteogenesis imperfecta type I
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ACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGG
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ACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCTTCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGG
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Task1_train_24897
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A variant found in Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Osteogenesis imperfecta type I
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AGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAA
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AGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACACCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAA
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Task1_train_24898
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A variant has been detected on Chromosome 17 in COL1A1 (collagen type I alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form
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CTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAG
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CTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATTAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAG
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Task1_train_24899
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This variant impacts the gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; not provided
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TCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGCCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA
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TCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTGTGTCTTCTGGGGAGACAGATTTGGGAAGGAGTGGAGGGGAGGCCCCAAGGGGGGTGTGGAGAAAGGAGCAGAAAGGGCAGCATTGGGGTTTCATAAGCCCAACGGGCAGAAAGGGACTTACCCCCGCATGGGTCTTCAAGCAAGTGGACCAAGCTTCCTTTTTTAAAAAGTTATTTATTTATTCTTTTTTTTTTTTTTTTTTTGGTAAGGTTGAATGCACTTTTGGTTTTTGGTCATGTTCGGTTGGTCAAAGATAAAAACTAAGTTTGAGAGATGAATGCAAAGGAAAAAAATATTTTCCAAAGTCCATGTGAAATTGTCTCCCATTTTTTGGCTTTTGAGGGGGTTCAGTTTGGGTTGCTTGTCTGTTTCCGGGTTGGGGGGAAAGTTGGTTGGGTGGGAGGGAGCCAGGTTGGGATGGAGGGAGTTTACAGGAAGCAGACAGGGCCAACGTCGAAGCCGAATTCCTGGTCTGGGGCACCAACGTCCAAGGGGGCCACATCGATGATGGGCAGGCGGGAGGTCTTGGTGGTTTTGTATTCAATCACTGTCTTGCCCCAGGCTCCGGTGTGACTCTGGGGTGGGGCGGAGACAACGGGAGGGGGCATTACCACGTGGGAGTGATGGAGAGAGGGCACTATGGCCTGGCCAAAAAGCCCAAGGCCGGAGAGGTGGGGCCCTGCCTGGGGATTCTGGGCACTCACCGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCGTTGGAGCCCTGGAGGAGCAGGGCCTTCTTGAGGTTGCCAGTCTGCTGGTCCATGTAGGCCACGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGGCCTCGGTGGACATCAGGCGCAGGAAGGTCAGCTGGATGGCCACATCGGCAGGGTCGGAGCCCTGGCCGCCATACTCGAACTGCAGGGGAGGGGAGAGAGGGAAGAGTGAGCCGCTATGCGGGAACCTCTAGTCCTGCCTGGCCTCCCTGTCCAGGGTCCTCAGAGAGCTGCCCAATGCACCGTTATATCGAGAGGAGGCACCACCTGCCCATCGGCAGCCTGTGTCTGAACCACTATCAGGGACCTGAGACCCCTGCCTCCCAGCCCAGCTCTGTCCATCACCCTTAGCAGAGACCTACTCCAGGACTTCATGTCCCTTCTGAGCACTGGGCTAGCCCATCTCCTAACACTGGCTCTGAGGTCCAGCTCACGCACCTGGAATCCATCGGTCATGCTCTCGCCGAACCAGACATGCCTCTTGTCCTTGGGGTTCTTGCTGATGTACCAGTTCTTCTGGGCCACACTGGGCTGAGTGGGGTACACGCAGGTCTCACCAGTCTCCATGTTGCAGAAGACTTTGATGGCATCCAGGTTGCAGCCTTGGTTGGGGTCAATCCAGTACTCTCCTGTGGTAGGGCAGGGCAAGATGGAGTCAGGGAAAGGGAGCAGCCAGCACCATATGGTAGGGGCACATATGGGCATGGGGACCCTGGCATGGCAGGAGTAGGAGGGAGGGAGAGGCTAGGGCAGGCCCTCACCACTCTTCCAGTCAGAGTGGCACATCTTGAGGTCACGGCAGGTGCGGGCGGGGTTCTTGCGGCTGCCCTCTGGGCTCCGGATGTTCTCGATCTGCTGGCTCAGGCTCTTGAGGGTGGTGTCCACCTCGAGGTCACGGTCACGAACCACATTGGCATCATCAGGCCGGTAGTAGCGGCCACCATCGTGAGCCTTCTCTTGAGGTGGCTGGGGCAGGAAGCTGAAGTCGAAACCAGCGCTGGGAGGACCAGGGGGACCAGGAGGTCCAGGAGGGCCGGGGGGACCCTGCACAGAGAGGGAAGAGAGTGGGGATTACCGGCATCCAAGTGCTTTGGGGGCTGGAGGGCCATGAGCAGAGGGGATGAGGGGCTACATACAACAGGACCAGCATCACCAGTGCGACCGCGAGGACCAGGGGGCCCAATGGGGCCAGGGAGACCGTTGAGTCCATCTTTGCCAGGAGCACCAGCAGAGCCAGGGGGACCCTGGAGTGGGGGAAATGGTTTGAGAAAGGCTGCCAGAAGCCCGAACAACCCCAGCTCTGGAGGAGAGGCCCACCACCCTCCCTGCTGGCTCTGGCCCCACGGCTCATAGAGCCAGCCTCAGCCTCTTTCCATAGGACATGCCATAGCTCCTCCCAGCCGCTGAGCCAGGGGAGGACGGATTGGGGAGCAGAGAGGCCAAAGCTAGATCAGATTGTTTGTTCAGGATTCTTCCTCTCTTTGCCCACTCCCTGTCCCTGAACCCTTCTCCAGAGAGGCAAAGGGTGCCTGGGTCCCTGGCAAGGGTCCCCGAGGTGAGCCTGGGCTTGGGGCTCAGGAAGAGGAGAGAGAAGGCATGACTTACTCGGGGACCAGCAGGACCAGAGGCTCCAGAGGGACCTTGTTCACCAGGAGAGCCCTGAAGGACAGATAAAAAAGGCAGTTCAGGCCCAGTGAGCGTCAAATGTAGCCTGAGGGCCTGGCTGGAGAGACAAGGGCAGTGTGGGCAACCCATGCCCCTTCATTATTCTGGAAATCTAGCCCGAGGGTGTCCATAGGCAGAGACCTCTCCCATAATCCCTCTCTGTGTACCCCTCACCCTCTCAGAAGCTACTTGGACATGCCCACAAATCTTCAGACCCCAGTCCCCACTAGGGAGGGGAAAGAATGACTATCCAGAGGGGGAAACTGAGGCGAAGCTCCCCCTCCTATCCCACAGCACAGCATGGGGACTGGGGAGGGGCTGAGCATACTTACAGGAGGGCCAGGGGGACCCTGGAGGCCAGAGAAGCCACGGTGACCCTTTATGCCTCTGTCGCCCTGTTCGCCTGTCTCACCCTTGTCACCACGGGGGCCTTGGGGTCCCTAGAAGAGAGAAAGGGACAAACTGTCAGGCGGAAGTTCCATTGGCATCGAGTGGGGCACTGTCTGCATCTGTAGAGTTCTAAAGGCATGGGGGACACAGCAGGGTACTTACGGCGGGGCCACGGGCGCCAACAGGGCCGACAGGACCGGCGGGACCAGCAGGACCCTGGGGAGAGCAAGGAAAGCATGAGCTCTTGGCCAGGGAAGGCTGAGGCTGGGGCTGCAGGATGAGGCCTCCCCTCTGCTGGATCTCTCTCTCCTCAGCTGCTTCCCACTGTGGCCATCTCTCCCAACTCCCAGGGAAACCTCCCCACTGCAATCTTCACGGGAGCTGGGGCCAACTCATGGGAGAGGCGGTCCTGTCTGGGAGAGGGGACTTGGGGCTGAGCTTTAACTCAGTTTTTTGGATTAAGGCCCTGACATCTTGCAGGATCTCCTTTCCTCCCCCTGCCTGGGTGAAGTCCGACACCCATCCCCAGGCCTCTAAGGAGGCCTGAAGAGTCCCTGGCCTGACCAGGTACAGGGAACTGGAGCCCAGCTACTTACAGTCTCACCACGATCACCACTCTTGCCAGCAGGGCCAACGGGGCCAGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGGGCCGGTCTCACCACGGTCACCCTGGCGGGGAGAGCAGGGGAATATGGGTCAGCCCCGGGTGAAGGGCCAGGATGGGGCAGGGAAGCAGCAGACAAGGCTGTGGTCATGGAGTGTTGCCATCTTACCTTGGCGCCAGGAGAACCGTCTCGTCCAGGGGAACCTTCGGCACCAGGAGCCCCCTGCAGAGAGAGAGAGAGAGAAGTGAGAGTCAGCCGGGGAAGAGGGCTTAGGCA
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Subsets and Splits
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