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_13200
|
A variant found in Chromosome 9 affects STXBP1 (syntaxin binding protein 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Epileptic encephalopathy
|
GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTC
|
GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCTGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTC
|
Task1_train_13201
|
Given a variant located on Chromosome 9 and affecting STXBP1 (syntaxin binding protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Developmental and epileptic encephalopathy, 4
|
GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTC
|
GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCTGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTC
|
Task1_train_13202
|
This sequence variant lies in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTC
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GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCTGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTC
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Task1_train_13203
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This alteration occurs within gene STXBP1 (syntaxin binding protein 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
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Pathogenic; Developmental and epileptic encephalopathy, 4
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AAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTG
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AAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATCGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTG
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Task1_train_13204
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An alteration has been detected in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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AACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTG
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AACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACCGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTG
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Task1_train_13205
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This variant lies on Chromosome 9 and affects the gene STXBP1 (syntaxin binding protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Developmental and epileptic encephalopathy, 4
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CTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGA
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CTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACAGGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGA
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Task1_train_13206
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Consider this mutation in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is this a benign change or a disease-causing variant?
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Pathogenic; Developmental and epileptic encephalopathy, 4
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TCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTC
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TCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACTTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTC
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Task1_train_13207
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Consider this mutation in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is this a benign change or a disease-causing variant?
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Pathogenic; Intellectual disability
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TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTCCTATAATAGAGACTCCTCTAGGGTGCCGCATCCAGAGGGGTCCAAGTGTATCTCAAAGGTCAGATGAGTGACATCACATCTCCACACAGGTGCAGTGGCTCAGCACACTTCCCCAGCACGGCCCTGCCTGCCCCGCCCTGCCCTCCTCCTGCTGTTCCCTACCTGAGCCTCCACACACCAGCAAATCGGATTCTGCTCCTCTGGCCAAAGCAGCCCCTTGCCTGGCATATTCTCACCCCTCCACTCCCCTTCCCAGATCCTGCTTTCCATCCAAGCCCCTCTTGAATCTTACCATTTCCATCTGCCGCCCCACCTGTCTGACCACTCAGCACACAGGGGCCTCCCCTGGACTCCTTAGTGCACATGTGCCTCTTGGTGCCTCGGGTCGCCTTTTTGTTTGTTGGTCCTGTCCCCTCAGCTGCTGTGTCATCTGCACAGAGCCTCTAGTGCAGCAGGTGTTTTTGCAGTTGTTGGCTGGAAGGTGTATAAGGTGGTGGCCACCGCAGTAGCCCTGTGGGGTCACTCCCTTCTCTCCTTGTAGCGGGAAGAGACCCTGCATAGAATCCTGCACCACTAGATCTTTCCAACTTGATTAGTGAACAAAACTGGGGTCTAGAGAATGAAGGGGTTTTTCTCGGGATCCCTTAGTTAATTCCTGGCAGCCCAGGTGTTCCTATTGAATTGTACATTAATATAAATGTATTTTAAATATATAGAGTGAGTCAGCTCCCATTTTTAAAATCCACAAACTAAAAGGATGGGTGAACATGAAACATCTAGAAACCAATTATATCTCTTTGCTTGTTGGGATAGCCAACCCCTCTGTCTCATTCCTTCCTTTGTTCTCTGCTCCCTTTTGCTCCCCCTCCTCTCCGATCCCCTAAAGAGACATGTGTAGGCTTCATGTGGGAGCTGTAAAGAAGAGTGTGGATTTCTAGGCAGCAGGAGGTAGATGGTGAGAGTCCACCCACCAGATAATTAGACACTTGAAAAACGGAGGGGGTAAGGCTTCTTCATGCAGGAGAGACACTGCTTGTGCCTGGTTTCTACAAGGCTGATGGCAAGTATCAGGAATTTATTGGACAGAATGCATCATTTATAAAACCTCACATAGATTATGAAAGTGAATAAACTGGAAGAGAAGCAAGAAAAAACTTCTCTTAAAAAGCAGGCTATCTCAGTGTAGCAGCTAGTTACAAAGCATCTGCTATAACTGAGCCCTGTGCTAGGCACCTCTGGCCGCAGGGAAGGGAGCTCTGGTTGTTGCAAACCTGGCCATGGCTTTGCCAAGTGACATGTTCTACAGATCATCTGGCCTTGGTTCCTATCAGCACTTTTCAGACAGATGGCAAGCTAATATCTGTCTCTTTTCCTTCTAGGACACTATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGGTAGGTGAAAATCCCTTAGCAAGGACAGAGGGGAGCCAGCTCTGGTTGGATGTCAGCTCTGCGGCAGACCCACTGTACGGCTGTGTGATCTACCAGAGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGA
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TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCTGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTCCTATAATAGAGACTCCTCTAGGGTGCCGCATCCAGAGGGGTCCAAGTGTATCTCAAAGGTCAGATGAGTGACATCACATCTCCACACAGGTGCAGTGGCTCAGCACACTTCCCCAGCACGGCCCTGCCTGCCCCGCCCTGCCCTCCTCCTGCTGTTCCCTACCTGAGCCTCCACACACCAGCAAATCGGATTCTGCTCCTCTGGCCAAAGCAGCCCCTTGCCTGGCATATTCTCACCCCTCCACTCCCCTTCCCAGATCCTGCTTTCCATCCAAGCCCCTCTTGAATCTTACCATTTCCATCTGCCGCCCCACCTGTCTGACCACTCAGCACACAGGGGCCTCCCCTGGACTCCTTAGTGCACATGTGCCTCTTGGTGCCTCGGGTCGCCTTTTTGTTTGTTGGTCCTGTCCCCTCAGCTGCTGTGTCATCTGCACAGAGCCTCTAGTGCAGCAGGTGTTTTTGCAGTTGTTGGCTGGAAGGTGTATAAGGTGGTGGCCACCGCAGTAGCCCTGTGGGGTCACTCCCTTCTCTCCTTGTAGCGGGAAGAGACCCTGCATAGAATCCTGCACCACTAGATCTTTCCAACTTGATTAGTGAACAAAACTGGGGTCTAGAGAATGAAGGGGTTTTTCTCGGGATCCCTTAGTTAATTCCTGGCAGCCCAGGTGTTCCTATTGAATTGTACATTAATATAAATGTATTTTAAATATATAGAGTGAGTCAGCTCCCATTTTTAAAATCCACAAACTAAAAGGATGGGTGAACATGAAACATCTAGAAACCAATTATATCTCTTTGCTTGTTGGGATAGCCAACCCCTCTGTCTCATTCCTTCCTTTGTTCTCTGCTCCCTTTTGCTCCCCCTCCTCTCCGATCCCCTAAAGAGACATGTGTAGGCTTCATGTGGGAGCTGTAAAGAAGAGTGTGGATTTCTAGGCAGCAGGAGGTAGATGGTGAGAGTCCACCCACCAGATAATTAGACACTTGAAAAACGGAGGGGGTAAGGCTTCTTCATGCAGGAGAGACACTGCTTGTGCCTGGTTTCTACAAGGCTGATGGCAAGTATCAGGAATTTATTGGACAGAATGCATCATTTATAAAACCTCACATAGATTATGAAAGTGAATAAACTGGAAGAGAAGCAAGAAAAAACTTCTCTTAAAAAGCAGGCTATCTCAGTGTAGCAGCTAGTTACAAAGCATCTGCTATAACTGAGCCCTGTGCTAGGCACCTCTGGCCGCAGGGAAGGGAGCTCTGGTTGTTGCAAACCTGGCCATGGCTTTGCCAAGTGACATGTTCTACAGATCATCTGGCCTTGGTTCCTATCAGCACTTTTCAGACAGATGGCAAGCTAATATCTGTCTCTTTTCCTTCTAGGACACTATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGGTAGGTGAAAATCCCTTAGCAAGGACAGAGGGGAGCCAGCTCTGGTTGGATGTCAGCTCTGCGGCAGACCCACTGTACGGCTGTGTGATCTACCAGAGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGA
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Task1_train_13208
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Here is a variant affecting STXBP1 (syntaxin binding protein 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Inborn genetic diseases
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TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTCCTATAATAGAGACTCCTCTAGGGTGCCGCATCCAGAGGGGTCCAAGTGTATCTCAAAGGTCAGATGAGTGACATCACATCTCCACACAGGTGCAGTGGCTCAGCACACTTCCCCAGCACGGCCCTGCCTGCCCCGCCCTGCCCTCCTCCTGCTGTTCCCTACCTGAGCCTCCACACACCAGCAAATCGGATTCTGCTCCTCTGGCCAAAGCAGCCCCTTGCCTGGCATATTCTCACCCCTCCACTCCCCTTCCCAGATCCTGCTTTCCATCCAAGCCCCTCTTGAATCTTACCATTTCCATCTGCCGCCCCACCTGTCTGACCACTCAGCACACAGGGGCCTCCCCTGGACTCCTTAGTGCACATGTGCCTCTTGGTGCCTCGGGTCGCCTTTTTGTTTGTTGGTCCTGTCCCCTCAGCTGCTGTGTCATCTGCACAGAGCCTCTAGTGCAGCAGGTGTTTTTGCAGTTGTTGGCTGGAAGGTGTATAAGGTGGTGGCCACCGCAGTAGCCCTGTGGGGTCACTCCCTTCTCTCCTTGTAGCGGGAAGAGACCCTGCATAGAATCCTGCACCACTAGATCTTTCCAACTTGATTAGTGAACAAAACTGGGGTCTAGAGAATGAAGGGGTTTTTCTCGGGATCCCTTAGTTAATTCCTGGCAGCCCAGGTGTTCCTATTGAATTGTACATTAATATAAATGTATTTTAAATATATAGAGTGAGTCAGCTCCCATTTTTAAAATCCACAAACTAAAAGGATGGGTGAACATGAAACATCTAGAAACCAATTATATCTCTTTGCTTGTTGGGATAGCCAACCCCTCTGTCTCATTCCTTCCTTTGTTCTCTGCTCCCTTTTGCTCCCCCTCCTCTCCGATCCCCTAAAGAGACATGTGTAGGCTTCATGTGGGAGCTGTAAAGAAGAGTGTGGATTTCTAGGCAGCAGGAGGTAGATGGTGAGAGTCCACCCACCAGATAATTAGACACTTGAAAAACGGAGGGGGTAAGGCTTCTTCATGCAGGAGAGACACTGCTTGTGCCTGGTTTCTACAAGGCTGATGGCAAGTATCAGGAATTTATTGGACAGAATGCATCATTTATAAAACCTCACATAGATTATGAAAGTGAATAAACTGGAAGAGAAGCAAGAAAAAACTTCTCTTAAAAAGCAGGCTATCTCAGTGTAGCAGCTAGTTACAAAGCATCTGCTATAACTGAGCCCTGTGCTAGGCACCTCTGGCCGCAGGGAAGGGAGCTCTGGTTGTTGCAAACCTGGCCATGGCTTTGCCAAGTGACATGTTCTACAGATCATCTGGCCTTGGTTCCTATCAGCACTTTTCAGACAGATGGCAAGCTAATATCTGTCTCTTTTCCTTCTAGGACACTATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGGTAGGTGAAAATCCCTTAGCAAGGACAGAGGGGAGCCAGCTCTGGTTGGATGTCAGCTCTGCGGCAGACCCACTGTACGGCTGTGTGATCTACCAGAGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGA
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TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCTGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTCCTATAATAGAGACTCCTCTAGGGTGCCGCATCCAGAGGGGTCCAAGTGTATCTCAAAGGTCAGATGAGTGACATCACATCTCCACACAGGTGCAGTGGCTCAGCACACTTCCCCAGCACGGCCCTGCCTGCCCCGCCCTGCCCTCCTCCTGCTGTTCCCTACCTGAGCCTCCACACACCAGCAAATCGGATTCTGCTCCTCTGGCCAAAGCAGCCCCTTGCCTGGCATATTCTCACCCCTCCACTCCCCTTCCCAGATCCTGCTTTCCATCCAAGCCCCTCTTGAATCTTACCATTTCCATCTGCCGCCCCACCTGTCTGACCACTCAGCACACAGGGGCCTCCCCTGGACTCCTTAGTGCACATGTGCCTCTTGGTGCCTCGGGTCGCCTTTTTGTTTGTTGGTCCTGTCCCCTCAGCTGCTGTGTCATCTGCACAGAGCCTCTAGTGCAGCAGGTGTTTTTGCAGTTGTTGGCTGGAAGGTGTATAAGGTGGTGGCCACCGCAGTAGCCCTGTGGGGTCACTCCCTTCTCTCCTTGTAGCGGGAAGAGACCCTGCATAGAATCCTGCACCACTAGATCTTTCCAACTTGATTAGTGAACAAAACTGGGGTCTAGAGAATGAAGGGGTTTTTCTCGGGATCCCTTAGTTAATTCCTGGCAGCCCAGGTGTTCCTATTGAATTGTACATTAATATAAATGTATTTTAAATATATAGAGTGAGTCAGCTCCCATTTTTAAAATCCACAAACTAAAAGGATGGGTGAACATGAAACATCTAGAAACCAATTATATCTCTTTGCTTGTTGGGATAGCCAACCCCTCTGTCTCATTCCTTCCTTTGTTCTCTGCTCCCTTTTGCTCCCCCTCCTCTCCGATCCCCTAAAGAGACATGTGTAGGCTTCATGTGGGAGCTGTAAAGAAGAGTGTGGATTTCTAGGCAGCAGGAGGTAGATGGTGAGAGTCCACCCACCAGATAATTAGACACTTGAAAAACGGAGGGGGTAAGGCTTCTTCATGCAGGAGAGACACTGCTTGTGCCTGGTTTCTACAAGGCTGATGGCAAGTATCAGGAATTTATTGGACAGAATGCATCATTTATAAAACCTCACATAGATTATGAAAGTGAATAAACTGGAAGAGAAGCAAGAAAAAACTTCTCTTAAAAAGCAGGCTATCTCAGTGTAGCAGCTAGTTACAAAGCATCTGCTATAACTGAGCCCTGTGCTAGGCACCTCTGGCCGCAGGGAAGGGAGCTCTGGTTGTTGCAAACCTGGCCATGGCTTTGCCAAGTGACATGTTCTACAGATCATCTGGCCTTGGTTCCTATCAGCACTTTTCAGACAGATGGCAAGCTAATATCTGTCTCTTTTCCTTCTAGGACACTATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGGTAGGTGAAAATCCCTTAGCAAGGACAGAGGGGAGCCAGCTCTGGTTGGATGTCAGCTCTGCGGCAGACCCACTGTACGGCTGTGTGATCTACCAGAGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGA
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Task1_train_13209
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This variant affects the gene STXBP1 (syntaxin binding protein 1) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Developmental and epileptic encephalopathy, 4
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TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTCCTATAATAGAGACTCCTCTAGGGTGCCGCATCCAGAGGGGTCCAAGTGTATCTCAAAGGTCAGATGAGTGACATCACATCTCCACACAGGTGCAGTGGCTCAGCACACTTCCCCAGCACGGCCCTGCCTGCCCCGCCCTGCCCTCCTCCTGCTGTTCCCTACCTGAGCCTCCACACACCAGCAAATCGGATTCTGCTCCTCTGGCCAAAGCAGCCCCTTGCCTGGCATATTCTCACCCCTCCACTCCCCTTCCCAGATCCTGCTTTCCATCCAAGCCCCTCTTGAATCTTACCATTTCCATCTGCCGCCCCACCTGTCTGACCACTCAGCACACAGGGGCCTCCCCTGGACTCCTTAGTGCACATGTGCCTCTTGGTGCCTCGGGTCGCCTTTTTGTTTGTTGGTCCTGTCCCCTCAGCTGCTGTGTCATCTGCACAGAGCCTCTAGTGCAGCAGGTGTTTTTGCAGTTGTTGGCTGGAAGGTGTATAAGGTGGTGGCCACCGCAGTAGCCCTGTGGGGTCACTCCCTTCTCTCCTTGTAGCGGGAAGAGACCCTGCATAGAATCCTGCACCACTAGATCTTTCCAACTTGATTAGTGAACAAAACTGGGGTCTAGAGAATGAAGGGGTTTTTCTCGGGATCCCTTAGTTAATTCCTGGCAGCCCAGGTGTTCCTATTGAATTGTACATTAATATAAATGTATTTTAAATATATAGAGTGAGTCAGCTCCCATTTTTAAAATCCACAAACTAAAAGGATGGGTGAACATGAAACATCTAGAAACCAATTATATCTCTTTGCTTGTTGGGATAGCCAACCCCTCTGTCTCATTCCTTCCTTTGTTCTCTGCTCCCTTTTGCTCCCCCTCCTCTCCGATCCCCTAAAGAGACATGTGTAGGCTTCATGTGGGAGCTGTAAAGAAGAGTGTGGATTTCTAGGCAGCAGGAGGTAGATGGTGAGAGTCCACCCACCAGATAATTAGACACTTGAAAAACGGAGGGGGTAAGGCTTCTTCATGCAGGAGAGACACTGCTTGTGCCTGGTTTCTACAAGGCTGATGGCAAGTATCAGGAATTTATTGGACAGAATGCATCATTTATAAAACCTCACATAGATTATGAAAGTGAATAAACTGGAAGAGAAGCAAGAAAAAACTTCTCTTAAAAAGCAGGCTATCTCAGTGTAGCAGCTAGTTACAAAGCATCTGCTATAACTGAGCCCTGTGCTAGGCACCTCTGGCCGCAGGGAAGGGAGCTCTGGTTGTTGCAAACCTGGCCATGGCTTTGCCAAGTGACATGTTCTACAGATCATCTGGCCTTGGTTCCTATCAGCACTTTTCAGACAGATGGCAAGCTAATATCTGTCTCTTTTCCTTCTAGGACACTATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGGTAGGTGAAAATCCCTTAGCAAGGACAGAGGGGAGCCAGCTCTGGTTGGATGTCAGCTCTGCGGCAGACCCACTGTACGGCTGTGTGATCTACCAGAGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGA
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TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCTGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTCCTATAATAGAGACTCCTCTAGGGTGCCGCATCCAGAGGGGTCCAAGTGTATCTCAAAGGTCAGATGAGTGACATCACATCTCCACACAGGTGCAGTGGCTCAGCACACTTCCCCAGCACGGCCCTGCCTGCCCCGCCCTGCCCTCCTCCTGCTGTTCCCTACCTGAGCCTCCACACACCAGCAAATCGGATTCTGCTCCTCTGGCCAAAGCAGCCCCTTGCCTGGCATATTCTCACCCCTCCACTCCCCTTCCCAGATCCTGCTTTCCATCCAAGCCCCTCTTGAATCTTACCATTTCCATCTGCCGCCCCACCTGTCTGACCACTCAGCACACAGGGGCCTCCCCTGGACTCCTTAGTGCACATGTGCCTCTTGGTGCCTCGGGTCGCCTTTTTGTTTGTTGGTCCTGTCCCCTCAGCTGCTGTGTCATCTGCACAGAGCCTCTAGTGCAGCAGGTGTTTTTGCAGTTGTTGGCTGGAAGGTGTATAAGGTGGTGGCCACCGCAGTAGCCCTGTGGGGTCACTCCCTTCTCTCCTTGTAGCGGGAAGAGACCCTGCATAGAATCCTGCACCACTAGATCTTTCCAACTTGATTAGTGAACAAAACTGGGGTCTAGAGAATGAAGGGGTTTTTCTCGGGATCCCTTAGTTAATTCCTGGCAGCCCAGGTGTTCCTATTGAATTGTACATTAATATAAATGTATTTTAAATATATAGAGTGAGTCAGCTCCCATTTTTAAAATCCACAAACTAAAAGGATGGGTGAACATGAAACATCTAGAAACCAATTATATCTCTTTGCTTGTTGGGATAGCCAACCCCTCTGTCTCATTCCTTCCTTTGTTCTCTGCTCCCTTTTGCTCCCCCTCCTCTCCGATCCCCTAAAGAGACATGTGTAGGCTTCATGTGGGAGCTGTAAAGAAGAGTGTGGATTTCTAGGCAGCAGGAGGTAGATGGTGAGAGTCCACCCACCAGATAATTAGACACTTGAAAAACGGAGGGGGTAAGGCTTCTTCATGCAGGAGAGACACTGCTTGTGCCTGGTTTCTACAAGGCTGATGGCAAGTATCAGGAATTTATTGGACAGAATGCATCATTTATAAAACCTCACATAGATTATGAAAGTGAATAAACTGGAAGAGAAGCAAGAAAAAACTTCTCTTAAAAAGCAGGCTATCTCAGTGTAGCAGCTAGTTACAAAGCATCTGCTATAACTGAGCCCTGTGCTAGGCACCTCTGGCCGCAGGGAAGGGAGCTCTGGTTGTTGCAAACCTGGCCATGGCTTTGCCAAGTGACATGTTCTACAGATCATCTGGCCTTGGTTCCTATCAGCACTTTTCAGACAGATGGCAAGCTAATATCTGTCTCTTTTCCTTCTAGGACACTATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGGTAGGTGAAAATCCCTTAGCAAGGACAGAGGGGAGCCAGCTCTGGTTGGATGTCAGCTCTGCGGCAGACCCACTGTACGGCTGTGTGATCTACCAGAGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGA
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Task1_train_13210
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Given a variant located on Chromosome 9 and affecting STXBP1 (syntaxin binding protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTCCTATAATAGAGACTCCTCTAGGGTGCCGCATCCAGAGGGGTCCAAGTGTATCTCAAAGGTCAGATGAGTGACATCACATCTCCACACAGGTGCAGTGGCTCAGCACACTTCCCCAGCACGGCCCTGCCTGCCCCGCCCTGCCCTCCTCCTGCTGTTCCCTACCTGAGCCTCCACACACCAGCAAATCGGATTCTGCTCCTCTGGCCAAAGCAGCCCCTTGCCTGGCATATTCTCACCCCTCCACTCCCCTTCCCAGATCCTGCTTTCCATCCAAGCCCCTCTTGAATCTTACCATTTCCATCTGCCGCCCCACCTGTCTGACCACTCAGCACACAGGGGCCTCCCCTGGACTCCTTAGTGCACATGTGCCTCTTGGTGCCTCGGGTCGCCTTTTTGTTTGTTGGTCCTGTCCCCTCAGCTGCTGTGTCATCTGCACAGAGCCTCTAGTGCAGCAGGTGTTTTTGCAGTTGTTGGCTGGAAGGTGTATAAGGTGGTGGCCACCGCAGTAGCCCTGTGGGGTCACTCCCTTCTCTCCTTGTAGCGGGAAGAGACCCTGCATAGAATCCTGCACCACTAGATCTTTCCAACTTGATTAGTGAACAAAACTGGGGTCTAGAGAATGAAGGGGTTTTTCTCGGGATCCCTTAGTTAATTCCTGGCAGCCCAGGTGTTCCTATTGAATTGTACATTAATATAAATGTATTTTAAATATATAGAGTGAGTCAGCTCCCATTTTTAAAATCCACAAACTAAAAGGATGGGTGAACATGAAACATCTAGAAACCAATTATATCTCTTTGCTTGTTGGGATAGCCAACCCCTCTGTCTCATTCCTTCCTTTGTTCTCTGCTCCCTTTTGCTCCCCCTCCTCTCCGATCCCCTAAAGAGACATGTGTAGGCTTCATGTGGGAGCTGTAAAGAAGAGTGTGGATTTCTAGGCAGCAGGAGGTAGATGGTGAGAGTCCACCCACCAGATAATTAGACACTTGAAAAACGGAGGGGGTAAGGCTTCTTCATGCAGGAGAGACACTGCTTGTGCCTGGTTTCTACAAGGCTGATGGCAAGTATCAGGAATTTATTGGACAGAATGCATCATTTATAAAACCTCACATAGATTATGAAAGTGAATAAACTGGAAGAGAAGCAAGAAAAAACTTCTCTTAAAAAGCAGGCTATCTCAGTGTAGCAGCTAGTTACAAAGCATCTGCTATAACTGAGCCCTGTGCTAGGCACCTCTGGCCGCAGGGAAGGGAGCTCTGGTTGTTGCAAACCTGGCCATGGCTTTGCCAAGTGACATGTTCTACAGATCATCTGGCCTTGGTTCCTATCAGCACTTTTCAGACAGATGGCAAGCTAATATCTGTCTCTTTTCCTTCTAGGACACTATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGGTAGGTGAAAATCCCTTAGCAAGGACAGAGGGGAGCCAGCTCTGGTTGGATGTCAGCTCTGCGGCAGACCCACTGTACGGCTGTGTGATCTACCAGAGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGA
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TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAGTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCTGATTATCAAGGACATCATGGAGGTTAGTGCTGGGGCACAGGGAGGAAAAACCAGGCCCAGGGCCCTTGGCTTGTCAGCCTGGATGCTTCCAGCTTCACCTGCGGCGAGGTGCTGCTGACTTCACAGGTACTGCCTCCACTTGAGGATTTGCATCCAGGCCTCCTTCGGCCCTCATGGTGCCCCTTGCCTGGGGGTTTCTGAAGAGCTGAGAGACTGTGAAGCACAGCCCCAGATCTATTTGTTGTTATGTCTTGGAGGACTCAGCTCCTATAATAGAGACTCCTCTAGGGTGCCGCATCCAGAGGGGTCCAAGTGTATCTCAAAGGTCAGATGAGTGACATCACATCTCCACACAGGTGCAGTGGCTCAGCACACTTCCCCAGCACGGCCCTGCCTGCCCCGCCCTGCCCTCCTCCTGCTGTTCCCTACCTGAGCCTCCACACACCAGCAAATCGGATTCTGCTCCTCTGGCCAAAGCAGCCCCTTGCCTGGCATATTCTCACCCCTCCACTCCCCTTCCCAGATCCTGCTTTCCATCCAAGCCCCTCTTGAATCTTACCATTTCCATCTGCCGCCCCACCTGTCTGACCACTCAGCACACAGGGGCCTCCCCTGGACTCCTTAGTGCACATGTGCCTCTTGGTGCCTCGGGTCGCCTTTTTGTTTGTTGGTCCTGTCCCCTCAGCTGCTGTGTCATCTGCACAGAGCCTCTAGTGCAGCAGGTGTTTTTGCAGTTGTTGGCTGGAAGGTGTATAAGGTGGTGGCCACCGCAGTAGCCCTGTGGGGTCACTCCCTTCTCTCCTTGTAGCGGGAAGAGACCCTGCATAGAATCCTGCACCACTAGATCTTTCCAACTTGATTAGTGAACAAAACTGGGGTCTAGAGAATGAAGGGGTTTTTCTCGGGATCCCTTAGTTAATTCCTGGCAGCCCAGGTGTTCCTATTGAATTGTACATTAATATAAATGTATTTTAAATATATAGAGTGAGTCAGCTCCCATTTTTAAAATCCACAAACTAAAAGGATGGGTGAACATGAAACATCTAGAAACCAATTATATCTCTTTGCTTGTTGGGATAGCCAACCCCTCTGTCTCATTCCTTCCTTTGTTCTCTGCTCCCTTTTGCTCCCCCTCCTCTCCGATCCCCTAAAGAGACATGTGTAGGCTTCATGTGGGAGCTGTAAAGAAGAGTGTGGATTTCTAGGCAGCAGGAGGTAGATGGTGAGAGTCCACCCACCAGATAATTAGACACTTGAAAAACGGAGGGGGTAAGGCTTCTTCATGCAGGAGAGACACTGCTTGTGCCTGGTTTCTACAAGGCTGATGGCAAGTATCAGGAATTTATTGGACAGAATGCATCATTTATAAAACCTCACATAGATTATGAAAGTGAATAAACTGGAAGAGAAGCAAGAAAAAACTTCTCTTAAAAAGCAGGCTATCTCAGTGTAGCAGCTAGTTACAAAGCATCTGCTATAACTGAGCCCTGTGCTAGGCACCTCTGGCCGCAGGGAAGGGAGCTCTGGTTGTTGCAAACCTGGCCATGGCTTTGCCAAGTGACATGTTCTACAGATCATCTGGCCTTGGTTCCTATCAGCACTTTTCAGACAGATGGCAAGCTAATATCTGTCTCTTTTCCTTCTAGGACACTATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGGTAGGTGAAAATCCCTTAGCAAGGACAGAGGGGAGCCAGCTCTGGTTGGATGTCAGCTCTGCGGCAGACCCACTGTACGGCTGTGTGATCTACCAGAGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGA
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Task1_train_13211
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Given a variant located on Chromosome 9 and affecting STXBP1 (syntaxin binding protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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ATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCT
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ATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGAGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCT
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Task1_train_13212
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A variant was discovered in gene STXBP1 (syntaxin binding protein 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Developmental and epileptic encephalopathy, 4
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CCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGA
|
CCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGTGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGA
|
Task1_train_13213
|
Here is a genetic alteration in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
|
CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAA
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CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGATGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAA
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Task1_train_13214
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Here is a genetic alteration in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Developmental and epileptic encephalopathy, 4
|
CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAA
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CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGATGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAA
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Task1_train_13215
|
This variant impacts the gene STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAA
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CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGTTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAA
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Task1_train_13216
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Located on Chromosome 9, this mutation impacts STXBP1 (syntaxin binding protein 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Developmental and epileptic encephalopathy, 4
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CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAA
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CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGTTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAA
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Task1_train_13217
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Consider a variant on Chromosome 9 in gene STXBP1 (syntaxin binding protein 1). Determine its clinical classification and disease relevance.
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Pathogenic; See cases
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TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAAGGGCTTTCTTTGATTATTCC
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TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGTGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAAGGGCTTTCTTTGATTATTCC
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Task1_train_13218
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This genomic variant is located on Chromosome 9, within the STXBP1 (syntaxin binding protein 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Developmental and epileptic encephalopathy, 4
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TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAAGGGCTTTCTTTGATTATTCC
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TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGTGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAAGGGCTTTCTTTGATTATTCC
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Task1_train_13219
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This mutation is located in gene STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Developmental disorder
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TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAAGGGCTTTCTTTGATTATTCC
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TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGTGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAAGGGCTTTCTTTGATTATTCC
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Task1_train_13220
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The gene STXBP1 (syntaxin binding protein 1) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAAGGGCTTTCTTTGATTATTCC
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TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGTGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAAGGGCTTTCTTTGATTATTCC
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Task1_train_13221
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This is a variant in STXBP1 (syntaxin binding protein 1), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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CACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAAGGGCTTTCTTTGATTATTCCG
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CACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCCCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAAGGGCTTTCTTTGATTATTCCG
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Task1_train_13222
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This variant affects gene STXBP1 (syntaxin binding protein 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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TTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAAGGGCTTTCTTTGATTATTCCGTCACTCTTTTTCTTTATTTCTTCCTTTTTAGTTTATTATTTATTTGATTT
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TTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATGTCAAACAAAGAAAAAATATGTCTGCATGGCTTGCCTCTTATCTCCTTTGGTCTTTAATCAAGTGTTACCTTCTCCAATCTTCCCTCACCACCCTGTTTAAAATTGCAGTGCATCAGCGTTCACAGCTTTACTCATGCAGTCCAAGTGTGGAGCAGCCCACATGTCCCCCAGCTGACGAGTGGGTAACACACGTGGTCTCTCCACACAGTGGCTCCTGAGAACAGTCAGGGCTGAGCACGCACTCGGGATGGTAGAGTTAGCAGCTCGAGAGGGCGACCCTGGCACTGCAGCTGTGCCACACCTGGCACCCCAGGATGTGCACATCTCTGTCCCTCCTCTCCTGCTTTCCCCACCTGTCTTCTCTTTTGCGTCTCTTCTCTCTGTGTTCACTTTTGGCTTCAGCTGGGCCAGAGGCCTGTGGTGGCCTCTGTGTCATTGTGCAGCCCTTCTCATGGCAGCAGAGGTAAAACGTTTTTTGCCAAATATGGCATAAAATACAAAATCCCAAGTAGCGCCACAGTCAGGCTGGGTGATGAGAATGGGATATCAAATGATTGCACAAGGAAAGAAAGCAACTGTGAGATTCTCTGTTGGCCCAAACGGTGCCCCAAACGGTGTCTTCCTGGTTTGGAAAGTGACTGTAAAGCTGTCATGAGTCAGGAAGAAAGGCGACGCATTGCAGTGGCCAGAAAGGACTTGCTCCTTTCATCTCATTTTTCTCATTTTCTTAACCTGGGAACAACCCATTTATTCCTGTTTCTCAGTCAAAGGTAAAGAGCTATTGAAGGAAGCCCAGGTTCAGAGGGAGGCCCCTCTGGGAGCAGCCTTGCCACTGAAGTACTCTTCCTCCCTGGCTTCGCCGCAATTTCCAGGAGGCAGCTCAGGGATGGAGAAGCCTCCCCAGTGGTGCCCGGACAGGGTTCCAGGGCTTCCCTGTGCTTGGCCCTATAGCACAGAGCTCTTCATCAGACCAGGATTTGGGCTCACTTCCTTCTCCCCACCTGCCCCATTCAATGATGACCTCTTGGTCAAGGCCTGTGTCTCCTTAGGATGTGGTACTGGGGAGGCCCTGGCCTCCAAGAGGCACTCACTCAGTACATGTTTTCAAGGGATCTATGTGCCAGCCTGAAGGCAGATCTTAGACTGTCATCACTGTGCACTGACAGCAGAGTGTCCCAGGCAAGCTCAGAGGCATGTGTGACTTGGGGTAGACGTCTGCATGAGCCTCTAGCAGGGGGATGCTACAGAACTTGACCCAGCAAACGTCAGAGCTGAACTGATCCTGTCTGTTGCCTGCATGTTTCTAAGAGTGACAAGGTCACAGCAGCACAGGCATTCATAGTGACTCTTCTCCTGGGAACCAATCCACTTGAAAATTGCATTGCAGTGAAATTTCAGCCAGCACTCACTAAGCATCTACACTGTTTGGGGCACAAGTGTACAGACCTAATAAGTAAACAAACCACTGGGGTATGAAGCACTAGATGCCGTGAGTGCAGATAAACTGACTGACATTCTCTTTCTCTCTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATACGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGTAAAAGCAGCTTATTACAGAAAAGAAACTCTTCCACTCTGAAGGGCTTTCTTTGATTATTCCGTCACTCTTTTTCTTTATTTCTTCCTTTTTAGTTTATTATTTATTTGATTT
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Task1_train_13223
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Consider this mutation in ENG (endoglin) on Chromosome 9. Is this a benign change or a disease-causing variant?
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Pathogenic; Pulmonary hypertension, primary, 1
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TCTTTTTTAAGGCTCTGTGCCTTGGTCTCTCCTTCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTGCCTCCTGGCTCAGGCCCAGCTTATTGTGTGCGCTGCCTGGCCAGGCCCTGGGTCTTGCCATGTGCTGGGTGGTAGATTTCCTCCTCCCAGTGCCTTCTGGGAAGGGAGAGGGCCTCTGCCTGGGACACTGCGGGACAGAGGGTGGCTGGAGTGAATTAAAGCCTTTGTTTTTTAAAGAAATGGCAAAGCCTTCGACTGACCCTTGACCCCCTGCTCCCTCAGCAGAGACGGAGGGAGGGGCTGCTGGTGGTCAGGGACCTGCACTGTGTAGAGGGAGCCTGGCTGTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAGGTGGCCTGTCTGTGAGATGAGAAGAAGACCAGACTGAAGCCTGTTCACCATATGCCAGGCAGTGCTTTCTGCAGACCCCCTTGCAGAGACCTTGTGATGGAGAATTATACACATTTGACAGACGAGGGAACTGTGGCTGGTTTCAAGAAGCCATGGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAAGAGGTCGAGACCATCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTATTAGCTGGACGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGAGATAGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGCCATGGGACCTGCCTACAGTCACAGGCCAACAAGGTGGCAGGTCCAGGATTTGAACTTAGAGCAGTCGAGGGCCTGTGTTCGGAACCCCAGAGTGAGAGTGTGGATGGGGCCTCCTGGTGTTTGCTTTCTTGCAGCCTAGACCCTGGGGTGTGCTGTCGAGTGGGTGAATGGCAGAGGGGAACTGGCTGAATGAAAACCTGCTGTGCCCTGGATGCTGCTACTGTTCAGGATGCCACCCCTGCCACCAGGCCAGCCCAGTGGGGGCCAACTACAAAAGCAGCCCTGTCCTGTGCCCTCACCCCACCCTGGCTTTGAATGTCACTGCCCTTCTCCCAGCCCAACCCATCACTGGTTTCATGGTCTGATTTATTGGTGGTGAATACACAGGGGCAGGCCCAGGACAAGCAGCTTGGCTACTCCCCCTCTGCTGGCTGCCCGACCGGCAGAGGGGGCTCCATGTGGCAGGAGCTAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGG
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TCTTTTTTAAGGCTCTGTGCCTTGGTCTCTCCTTCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTGCCTCCTGGCTCAGGCCCAGCTTATTGTGTGCGCTGCCTGGCCAGGCCCTGGGTCTTGCCATGTGCTGGGTGGTAGATTTCCTCCTCCCAGTGCCTTCTGGGAAGGGAGAGGGCCTCTGCCTGGGACACTGCGGGACAGAGGGTGGCTGGAGTGAATTAAAGCCTTTGTTTTTTAAAGAAATGGCAAAGCCTTCGACTGACCCTTGACCCCCTGCTCCCTCAGCAGAGACGGAGGGAGGGGCTGCTGGTGGTCAGGGACCTGCACTGTGTAGAGGGAGCCTGGCTGTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAGGTGGCCTGTCTGTGAGATGAGAAGAAGACCAGACTGAAGCCTGTTCACCATATGCCAGGCAGTGCTTTCTGCAGACCCCCTTGCAGAGACCTTGTGATGGAGAATTATACACATTTGACAGACGAGGGAACTGTGGCTGGTTTCAAGAAGCCATGGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAAGAGGTCGAGACCATCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTATTAGCTGGACGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATAGAGATAGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGCCATGGGACCTGCCTACAGTCACAGGCCAACAAGGTGGCAGGTCCAGGATTTGAACTTAGAGCAGTCGAGGGCCTGTGTTCGGAACCCCAGAGTGAGAGTGTGGATGGGGCCTCCTGGTGTTTGCTTTCTTGCAGCCTAGACCCTGGGGTGTGCTGTCGAGTGGGTGAATGGCAGAGGGGAACTGGCTGAATGAAAACCTGCTGTGCCCTGGATGCTGCTACTGTTCAGGATGCCACCCCTGCCACCAGGCCAGCCCAGTGGGGGCCAACTACAAAAGCAGCCCTGTCCTGTGCCCTCACCCCACCCTGGCTTTGAATGTCACTGCCCTTCTCCCAGCCCAACCCATCACTGGTTTCATGGTCTGATTTATTGGTGGTGAATACACAGGGGCAGGCCCAGGACAAGCAGCTTGGCTACTCCCCCTCTGCTGGCTGCCCGACCGGCAGAGGGGGCTCCATGTGGCAGGAGCTAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAAACTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGG
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Task1_train_13224
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This gene mutation involves ENG, LOC102723566 (endoglin| uncharacterized LOC102723566) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hereditary hemorrhagic telangiectasia
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GTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTTTTTTTTTTTTAAACTAATATTTATCAAGGAGGCACCAGCTGCCAGGCTGTGTGAAGAGCTTCCACACAGCACCTCATTGGCTGCCCAGAAGCACCCTGTGGCGCAGAGTCCTTTCTTAGGCCACCTTTGGGCCCAGAAAACTAAAGTGACTTGCCCAAGGCCACACAGCCAGTATGTGCTAAGCCCTCTGACTTGAGAGACCAAGAGCGTCACCCTCAGCAGTCCTGCTCCGGTCATACAGAAGGGGAGACCGAGGCATTCCAGACACACATGGCTTGCCAGGAGTTTCCCGAGGCCTGCTCCCTCCCAGGCCAGGAAGAGGCCCCGGCCCAGCAGCAGCCCCTGGGCCAGGTGGGTTAGCACGTGACTGTCCATCTCACCCGCTGTGGTGATGAGCTCGACAGGATATTGACCACCGCCTGCGGGGATAAAGCCAGGGAGCTGGTCAGAGCCAGAAAGGACCCCAGAGGGTATCCCACCCAATACGCCCATTTTTGCAGATGGGGAGACTAAGCCAACCAATGGCCAAGCTTGTCTTGTGTTCTGAGCCCCTGCAGCCTGCTCTCCCAAACACACCTCCACCCTGGGGGATCAGGGAGGGCACCTGAGGGGGCACCAACCAGGCTGGTCCTGATACCTTTTTGGCCCCAGCTCTTACCTCATTGCTGATCATACTTGCTGACACCTGCATGCCACAGCTGGAGTAAGCACTGCGCAAGACAAACTTGTCACCCCTGTCCTCTGCCTCACAGCTGGGGTCCCAGAAGGTCAGGCCCGTGATGGTGCACTTCAAATGCTGGGTCGGAAGAGAGGGGCACCATCAGGAGGCACTGGGGTCTCTGTGGCCTGCCACACCCCAGCACCAAGGACTGACCACAACCCAGGGGTCCCAAGTCACAGCCATTCCCCTGCCCTGCTCCCTCTTCATTTTTGTTAGATGTCATCATCCTACACCACTTAAAAGTT
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GTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGTAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTTTTTTTTTTTTAAACTAATATTTATCAAGGAGGCACCAGCTGCCAGGCTGTGTGAAGAGCTTCCACACAGCACCTCATTGGCTGCCCAGAAGCACCCTGTGGCGCAGAGTCCTTTCTTAGGCCACCTTTGGGCCCAGAAAACTAAAGTGACTTGCCCAAGGCCACACAGCCAGTATGTGCTAAGCCCTCTGACTTGAGAGACCAAGAGCGTCACCCTCAGCAGTCCTGCTCCGGTCATACAGAAGGGGAGACCGAGGCATTCCAGACACACATGGCTTGCCAGGAGTTTCCCGAGGCCTGCTCCCTCCCAGGCCAGGAAGAGGCCCCGGCCCAGCAGCAGCCCCTGGGCCAGGTGGGTTAGCACGTGACTGTCCATCTCACCCGCTGTGGTGATGAGCTCGACAGGATATTGACCACCGCCTGCGGGGATAAAGCCAGGGAGCTGGTCAGAGCCAGAAAGGACCCCAGAGGGTATCCCACCCAATACGCCCATTTTTGCAGATGGGGAGACTAAGCCAACCAATGGCCAAGCTTGTCTTGTGTTCTGAGCCCCTGCAGCCTGCTCTCCCAAACACACCTCCACCCTGGGGGATCAGGGAGGGCACCTGAGGGGGCACCAACCAGGCTGGTCCTGATACCTTTTTGGCCCCAGCTCTTACCTCATTGCTGATCATACTTGCTGACACCTGCATGCCACAGCTGGAGTAAGCACTGCGCAAGACAAACTTGTCACCCCTGTCCTCTGCCTCACAGCTGGGGTCCCAGAAGGTCAGGCCCGTGATGGTGCACTTCAAATGCTGGGTCGGAAGAGAGGGGCACCATCAGGAGGCACTGGGGTCTCTGTGGCCTGCCACACCCCAGCACCAAGGACTGACCACAACCCAGGGGTCCCAAGTCACAGCCATTCCCCTGCCCTGCTCCCTCTTCATTTTTGTTAGATGTCATCATCCTACACCACTTAAAAGTT
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Task1_train_13225
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A mutation on Chromosome 9 affecting ENG, LOC102723566 (endoglin| uncharacterized LOC102723566) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 1
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ATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTTTTTTTTTTTTAAACTAATATTTATCAAGGAGGCACCAGCTGCCAGGCTGTGTGAAGAGCTTCCACACAGCACCTCATTGGCTGCCCAGAAGCACCCTGTGGCGCAGAGTCCTTTCTTAGGCCACCTTTGGGCCCAGAAAACTAAAGTGACTTGCCCAAGGCCACACAGCCAGTATGTGCTAAGCCCTCTGACTTGAGAGACCAAGAGCGTCACCCTCAGCAGTCCTGCTCCGGTCATACAGAAGGGGAGACCGAGGCATTCCAGACACACATGGCTTGCCAGGAGTTTCCCGAGGCCTGCTCCCTCCCAGGCCAGGAAGAGGCCCCGGCCCAGCAGCAGCCCCTGGGCCAGGTGGGTTAGCACGTGACTGTCCATCTCACCCGCTGTGGTGATGAGCTCGACAGGATATTGACCACCGCCTGCGGGGATAAAGCCAGGGAGCTGGTCAGAGCCAGAAAGGACCCCAGAGGGTATCCCACCCAATACGCCCATTTTTGCAGATGGGGAGACTAAGCCAACCAATGGCCAAGCTTGTCTTGTGTTCTGAGCCCCTGCAGCCTGCTCTCCCAAACACACCTCCACCCTGGGGGATCAGGGAGGGCACCTGAGGGGGCACCAACCAGGCTGGTCCTGATACCTTTTTGGCCCCAGCTCTTACCTCATTGCTGATCATACTTGCTGACACCTGCATGCCACAGCTGGAGTAAGCACTGCGCAAGACAAACTTGTCACCCCTGTCCTCTGCCTCACAGCTGGGGTCCCAGAAGGTCAGGCCCGTGATGGTGCACTTCAAATGCTGGGTCGGAAGAGAGGGGCACCATCAGGAGGCACTGGGGTCTCTGTGGCCTGCCACACCCCAGCACCAAGGACTGACCACAACCCAGGGGTCCCAAGTCACAGCCATTCCCCTGCCCTGCTCCCTCTTCATTTTTGTTAGATGTCATCATCCTACACCACTTAAAAGTTCTTTTTTTTGAGATGGAGTCTCACTCTTTTTGCCCAGGTGCAGTGGCTCGATCTTGGCTCACTACAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTTGGCCTCCTGAGTTGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTACTTTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCATTGCAGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAAATTTTCTTATATCTATCAAAATAAATACAGAACTATTAAAAATATTCCTTCAGGCCGGGTACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCTCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCGTGAGCCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAATATATATATATATATTCCTTCAAGTTCCACATATAATCATCACTCACAGCCCCAAGGGCATGCAAACCCTGCAAGCATAATCCAGTCTCAGGCCTGGCGTGGGCGAAGTGTTCCTATAAAGAGCCAGATAGTAAATACTGTCATGCACCATGGGACAATGTTGTGGTCGGTGATGGACTGTGTATATGATGGTGGTCCCTGGTCCCATAAAATTATAACGAAGCTGAAAAATTTCTATTGCCTAGTGTTTGTGGTGATGCTGGTGTAAGCAAACTTATTGCACTGCCGGTCATATAAAAGTCTAGCACAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTAGGCAGAGGCAGGCAGATCACAGGAGGCCAGAAGTTCGAGACCTGCCTAGCCAACATAGTGAAACCCGACTCTACTAAAATTATAAAAATTAGCCAGGTGTGGTGGCAGACACCCATAGTCCCAGCTACTGGGAAGGCTGAGGCACAAGAATCGCTTGAACCTGAGAGGAGGAGGCTGCAGTGAGCCGAGATCACATCATTGCACTCCAGCCTTGGTGACAGAGCGAGACCTCGTCTCTAAAACAAGAAAAAGAAGGCCAGTTGCAGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCTGAGGTAGGCAGATGACCTGAGGTCGGAAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGTAGCTAGGCTGCGGACCAGGCGCCTGATTTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTGCTAAAAAAAAAAATACAAAAAATAAGCCAAGAGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTTCAGTGAGCCGAGATTGTGCCATTGTACTCCAGCCCGGGCAATAGTGTGAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCGTGGTGGTGCACGCCTGTATTCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGT
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ATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTTTTTTTTTTTTAAACTAATATTTATCAAGGAGGCACCAGCTGCCAGGCTGTGTGAAGAGCTTCCACACAGCACCTCATTGGCTGCCCAGAAGCACCCTGTGGCGCAGAGTCCTTTCTTAGGCCACCTTTGGGCCCAGAAAACTAAAGTGACTTGCCCAAGGCCACACAGCCAGTATGTGCTAAGCCCTCTGACTTGAGAGACCAAGAGCGTCACCCTCAGCAGTCCTGCTCCGGTCATACAGAAGGGGAGACCGAGGCATTCCAGACACACATGGCTTGCCAGGAGTTTCCCGAGGCCTGCTCCCTCCCAGGCCAGGAAGAGGCCCCGGCCCAGCAGCAGCCCCTGGGCCAGGTGGGTTAGCACGTGACTGTCCATCTCACCCGCTGTGGTGATGAGCTCGACAGGATATTGACCACCGCCTGCGGGGATAAAGCCAGGGAGCTGGTCAGAGCCAGAAAGGACCCCAGAGGGTATCCCACCCAATACGCCCATTTTTGCAGATGGGGAGACTAAGCCAACCAATGGCCAAGCTTGTCTTGTGTTCTGAGCCCCTGCAGCCTGCTCTCCCAAACACACCTCCACCCTGGGGGATCAGGGAGGGCACCTGAGGGGGCACCAACCAGGCTGGTCCTGATACCTTTTTGGCCCCAGCTCTTACCTCATTGCTGATCATACTTGCTGACACCTGCATGACACAGCTGGAGTAAGCACTGCGCAAGACAAACTTGTCACCCCTGTCCTCTGCCTCACAGCTGGGGTCCCAGAAGGTCAGGCCCGTGATGGTGCACTTCAAATGCTGGGTCGGAAGAGAGGGGCACCATCAGGAGGCACTGGGGTCTCTGTGGCCTGCCACACCCCAGCACCAAGGACTGACCACAACCCAGGGGTCCCAAGTCACAGCCATTCCCCTGCCCTGCTCCCTCTTCATTTTTGTTAGATGTCATCATCCTACACCACTTAAAAGTTCTTTTTTTTGAGATGGAGTCTCACTCTTTTTGCCCAGGTGCAGTGGCTCGATCTTGGCTCACTACAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTTGGCCTCCTGAGTTGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTACTTTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCATTGCAGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAAATTTTCTTATATCTATCAAAATAAATACAGAACTATTAAAAATATTCCTTCAGGCCGGGTACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCTCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCGTGAGCCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAATATATATATATATATTCCTTCAAGTTCCACATATAATCATCACTCACAGCCCCAAGGGCATGCAAACCCTGCAAGCATAATCCAGTCTCAGGCCTGGCGTGGGCGAAGTGTTCCTATAAAGAGCCAGATAGTAAATACTGTCATGCACCATGGGACAATGTTGTGGTCGGTGATGGACTGTGTATATGATGGTGGTCCCTGGTCCCATAAAATTATAACGAAGCTGAAAAATTTCTATTGCCTAGTGTTTGTGGTGATGCTGGTGTAAGCAAACTTATTGCACTGCCGGTCATATAAAAGTCTAGCACAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTAGGCAGAGGCAGGCAGATCACAGGAGGCCAGAAGTTCGAGACCTGCCTAGCCAACATAGTGAAACCCGACTCTACTAAAATTATAAAAATTAGCCAGGTGTGGTGGCAGACACCCATAGTCCCAGCTACTGGGAAGGCTGAGGCACAAGAATCGCTTGAACCTGAGAGGAGGAGGCTGCAGTGAGCCGAGATCACATCATTGCACTCCAGCCTTGGTGACAGAGCGAGACCTCGTCTCTAAAACAAGAAAAAGAAGGCCAGTTGCAGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCTGAGGTAGGCAGATGACCTGAGGTCGGAAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGTAGCTAGGCTGCGGACCAGGCGCCTGATTTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTGCTAAAAAAAAAAATACAAAAAATAAGCCAAGAGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTTCAGTGAGCCGAGATTGTGCCATTGTACTCCAGCCCGGGCAATAGTGTGAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCGTGGTGGTGCACGCCTGTATTCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGT
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Task1_train_13226
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This gene mutation involves ENG (endoglin) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hereditary hemorrhagic telangiectasia
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CAGAGAATTACAACTAAAACAAGAATGGAACGCCATGTGCCTCTTCCCACACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGAGTTAATTATAGCATGTCAATATGATGGAATAATATGTGCTTATTAAACATGATATTAGGTACAGCTGTCAAAGCTCTAAAAATACATTAAGTGAAATAGTAAGAGACAAATGAACACATCTCTTATGATTACATCAATATAAGAAATACACAGAGAAAACGCTCTAGAAAGAAGCACACCAAAATGTTGGCAGCCATTGTCTTTGTGTCAGAAGGTTAAGATTTTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGAGACGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCGGCTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTGTGCCACGTGATTGGCCTGTCAGACTGCCTTTAATTCTCACCACGTGGTAGGTACCATTATCAATTCCATTATACAAGTGGGAAAACTAAGGCTTGCAGAGGGACGTGACTTGCCCCCCTGCCTGGGCTAGGACCCCAAGAGTCTTGGGCTAGGGGAGGAACCAGATGTCCATGTCATCCTGAGCCAGAGGGGCAGGAGTTCCCTTACCGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCACACTTTGTCTGGATCAAGGACATGAGCAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGGTCTGGATCGGTGCGGGTGAGGTCTGCAGCCTACCACCTGTGGGGTAGCAGAGGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCC
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CAGAGAATTACAACTAAAACAAGAATGGAACGCCATGTGCCTCTTCCCACACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGAGTTAATTATAGCATGTCAATATGATGGAATAATATGTGCTTATTAAACATGATATTAGGTACAGCTGTCAAAGCTCTAAAAATACATTAAGTGAAATAGTAAGAGACAAATGAACACATCTCTTATGATTACATCAATATAAGAAATACACAGAGAAAACGCTCTAGAAAGAAGCACACCAAAATGTTGGCAGCCATTGTCTTTGTGTCAGAAGGTTAAGATTTTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGAGACGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCGGCTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTGTGCCACGTGATTGGCCTGTCAGACTGCCTTTAATTCTCACCACGTGGTAGGTACCATTATCAATTCCATTATACAAGTGGGAAAACTAAGGCTTGCAGAGGGACGTGACTTGCCCCCCTGCCTGGGCTAGGACCCCAAGAGTCTTGGGCTAGGGGAGGAACCAGATGTCCATGTCATCCTGAGCCAGAGGGGCAGGAGTTCCCTTATCGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCACACTTTGTCTGGATCAAGGACATGAGCAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGGTCTGGATCGGTGCGGGTGAGGTCTGCAGCCTACCACCTGTGGGGTAGCAGAGGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCC
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Task1_train_13227
|
A mutation found in ENG (endoglin) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Cardiovascular phenotype
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CACACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGAGTTAATTATAGCATGTCAATATGATGGAATAATATGTGCTTATTAAACATGATATTAGGTACAGCTGTCAAAGCTCTAAAAATACATTAAGTGAAATAGTAAGAGACAAATGAACACATCTCTTATGATTACATCAATATAAGAAATACACAGAGAAAACGCTCTAGAAAGAAGCACACCAAAATGTTGGCAGCCATTGTCTTTGTGTCAGAAGGTTAAGATTTTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGAGACGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCGGCTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTGTGCCACGTGATTGGCCTGTCAGACTGCCTTTAATTCTCACCACGTGGTAGGTACCATTATCAATTCCATTATACAAGTGGGAAAACTAAGGCTTGCAGAGGGACGTGACTTGCCCCCCTGCCTGGGCTAGGACCCCAAGAGTCTTGGGCTAGGGGAGGAACCAGATGTCCATGTCATCCTGAGCCAGAGGGGCAGGAGTTCCCTTACCGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCACACTTTGTCTGGATCAAGGACATGAGCAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGGTCTGGATCGGTGCGGGTGAGGTCTGCAGCCTACCACCTGTGGGGTAGCAGAGGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCA
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CACACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGAGTTAATTATAGCATGTCAATATGATGGAATAATATGTGCTTATTAAACATGATATTAGGTACAGCTGTCAAAGCTCTAAAAATACATTAAGTGAAATAGTAAGAGACAAATGAACACATCTCTTATGATTACATCAATATAAGAAATACACAGAGAAAACGCTCTAGAAAGAAGCACACCAAAATGTTGGCAGCCATTGTCTTTGTGTCAGAAGGTTAAGATTTTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGAGACGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCGGCTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTGTGCCACGTGATTGGCCTGTCAGACTGCCTTTAATTCTCACCACGTGGTAGGTACCATTATCAATTCCATTATACAAGTGGGAAAACTAAGGCTTGCAGAGGGACGTGACTTGCCCCCCTGCCTGGGCTAGGACCCCAAGAGTCTTGGGCTAGGGGAGGAACCAGATGTCCATGTCATCCTGAGCCAGAGGGGCAGGAGTTCCCTTACCGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCATACTTTGTCTGGATCAAGGACATGAGCAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGGTCTGGATCGGTGCGGGTGAGGTCTGCAGCCTACCACCTGTGGGGTAGCAGAGGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCA
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Task1_train_13228
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This alteration in ENG (endoglin) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Hereditary hemorrhagic telangiectasia
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TTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGAGACGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCGGCTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTGTGCCACGTGATTGGCCTGTCAGACTGCCTTTAATTCTCACCACGTGGTAGGTACCATTATCAATTCCATTATACAAGTGGGAAAACTAAGGCTTGCAGAGGGACGTGACTTGCCCCCCTGCCTGGGCTAGGACCCCAAGAGTCTTGGGCTAGGGGAGGAACCAGATGTCCATGTCATCCTGAGCCAGAGGGGCAGGAGTTCCCTTACCGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCACACTTTGTCTGGATCAAGGACATGAGCAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGGTCTGGATCGGTGCGGGTGAGGTCTGCAGCCTACCACCTGTGGGGTAGCAGAGGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCC
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TTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGAGACGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCGGCTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTGTGCCACGTGATTGGCCTGTCAGACTGCCTTTAATTCTCACCACGTGGTAGGTACCATTATCAATTCCATTATACAAGTGGGAAAACTAAGGCTTGCAGAGGGACGTGACTTGCCCCCCTGCCTGGGCTAGGACCCCAAGAGTCTTGGGCTAGGGGAGGAACCAGATGTCCATGTCATCCTGAGCCAGAGGGGCAGGAGTTCCCTTACCGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCACACTTTGTCTGGATCAAGGACATGAGCAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGGTCTGGATCGGTGCGGGTGAGGTCTGCAGCCTACCACCTGTGGGGTAGCAGAGGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCCCAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCC
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Task1_train_13229
|
Gene ENG (endoglin) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Hereditary hemorrhagic telangiectasia
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TGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCGGCTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTGTGCCACGTGATTGGCCTGTCAGACTGCCTTTAATTCTCACCACGTGGTAGGTACCATTATCAATTCCATTATACAAGTGGGAAAACTAAGGCTTGCAGAGGGACGTGACTTGCCCCCCTGCCTGGGCTAGGACCCCAAGAGTCTTGGGCTAGGGGAGGAACCAGATGTCCATGTCATCCTGAGCCAGAGGGGCAGGAGTTCCCTTACCGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCACACTTTGTCTGGATCAAGGACATGAGCAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGGTCTGGATCGGTGCGGGTGAGGTCTGCAGCCTACCACCTGTGGGGTAGCAGAGGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTA
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TGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCGGCTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTGTGCCACGTGATTGGCCTGTCAGACTGCCTTTAATTCTCACCACGTGGTAGGTACCATTATCAATTCCATTATACAAGTGGGAAAACTAAGGCTTGCAGAGGGACGTGACTTGCCCCCCTGCCTGGGCTAGGACCCCAAGAGTCTTGGGCTAGGGGAGGAACCAGATGTCCATGTCATCCTGAGCCAGAGGGGCAGGAGTTCCCTTACCGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCACACTTTGTCTGGATCAAGGACATGAGCAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGGTCTGGATCGGTGCGGGTGAGGTCTGCAGCCTACCACCTGTGGGGTAGCAGAGGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCCTGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTA
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Task1_train_13230
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This gene mutation involves ENG (endoglin) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hereditary hemorrhagic telangiectasia
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CAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCGGCTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTGTGCCACGTGATTGGCCTGTCAGACTGCCTTTAATTCTCACCACGTGGTAGGTACCATTATCAATTCCATTATACAAGTGGGAAAACTAAGGCTTGCAGAGGGACGTGACTTGCCCCCCTGCCTGGGCTAGGACCCCAAGAGTCTTGGGCTAGGGGAGGAACCAGATGTCCATGTCATCCTGAGCCAGAGGGGCAGGAGTTCCCTTACCGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCACACTTTGTCTGGATCAAGGACATGAGCAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGGTCTGGATCGGTGCGGGTGAGGTCTGCAGCCTACCACCTGTGGGGTAGCAGAGGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGA
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CAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCGGCTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTGTGCCACGTGATTGGCCTGTCAGACTGCCTTTAATTCTCACCACGTGGTAGGTACCATTATCAATTCCATTATACAAGTGGGAAAACTAAGGCTTGCAGAGGGACGTGACTTGCCCCCCTGCCTGGGCTAGGACCCCAAGAGTCTTGGGCTAGGGGAGGAACCAGATGTCCATGTCATCCTGAGCCAGAGGGGCAGGAGTTCCCTTACCGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCACACTTTGTCTGGATCAAGGACATGAGCAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGGTCTGGATCGGTGCGGGTGAGGTCTGCAGCCTACCACCTGTGGGGTAGCAGAGGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGGTGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGA
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Task1_train_13231
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Consider a variant on Chromosome 9 in gene ENG (endoglin). Determine its clinical classification and disease relevance.
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Pathogenic; Hereditary hemorrhagic telangiectasia
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TTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTGTGCCACGTGATTGGCCTGTCAGACTGCCTTTAATTCTCACCACGTGGTAGGTACCATTATCAATTCCATTATACAAGTGGGAAAACTAAGGCTTGCAGAGGGACGTGACTTGCCCCCCTGCCTGGGCTAGGACCCCAAGAGTCTTGGGCTAGGGGAGGAACCAGATGTCCATGTCATCCTGAGCCAGAGGGGCAGGAGTTCCCTTACCGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCACACTTTGTCTGGATCAAGGACATGAGCAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGGTCTGGATCGGTGCGGGTGAGGTCTGCAGCCTACCACCTGTGGGGTAGCAGAGGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCA
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TTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTGTGCCACGTGATTGGCCTGTCAGACTGCCTTTAATTCTCACCACGTGGTAGGTACCATTATCAATTCCATTATACAAGTGGGAAAACTAAGGCTTGCAGAGGGACGTGACTTGCCCCCCTGCCTGGGCTAGGACCCCAAGAGTCTTGGGCTAGGGGAGGAACCAGATGTCCATGTCATCCTGAGCCAGAGGGGCAGGAGTTCCCTTACCGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCACACTTTGTCTGGATCAAGGACATGAGCAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGGTCTGGATCGGTGCGGGTGAGGTCTGCAGCCTACCACCTGTGGGGTAGCAGAGGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCCGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCA
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Task1_train_13232
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The gene ENG (endoglin) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Cardiovascular phenotype
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GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTG
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GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACGTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTG
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Task1_train_13233
|
This alteration in ENG (endoglin) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Hereditary hemorrhagic telangiectasia
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GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTG
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GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACGTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTG
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Task1_train_13234
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This variant affects the gene ENG (endoglin) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hereditary hemorrhagic telangiectasia
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GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTG
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GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACTTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTG
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Task1_train_13235
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With a mutation on Chromosome 9 in gene ENG (endoglin), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Cardiovascular phenotype
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GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTG
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GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACTTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTG
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Task1_train_13236
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Given this variant in gene ENG (endoglin) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Hereditary hemorrhagic telangiectasia
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TCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTGCACGGACTCAGATCGGGAAGGGGGAGGAT
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TCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGAGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTGCACGGACTCAGATCGGGAAGGGGGAGGAT
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Task1_train_13237
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This sequence variant lies in ENG (endoglin) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 1
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AGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTGCACGGACTCAGATCGGGAAGGGGGAGGATCCATGGTAAAGGCCACGCCCCCTCTGGGACCTCGATTCCCCTTCTGG
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AGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCGCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTGCACGGACTCAGATCGGGAAGGGGGAGGATCCATGGTAAAGGCCACGCCCCCTCTGGGACCTCGATTCCCCTTCTGG
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Task1_train_13238
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This is a variant in ENG (endoglin), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; Hereditary hemorrhagic telangiectasia
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ACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTGCACGGACTCAGATCGGGAAGGGGGAGGATCCATGGTAAAGGCCACGCCCCCTCTGGGACCTCGATTCCCCTTCTGGGCGGCCGAGGGATGGGCTGCAAGGAGTCAAATCCTCTTGGCCCTGGTGGTTGGATTTGGCCCCCTCCCTCCTAGGACTTTGGCATGCTGGCTTGGTCATGTCTGACTGTCTCTGTGCTGTCCCTGTCACCAGTCCGGAAGCTTCTCCCCTGTCCCCCACGCCCAACTTCGCTCAAGCCTGCCTCCCTCCCGCAGTGGGCATGTTTCTTTCTATGCCTCTCTCCCCTTTGCTATCTTTGCTCTCCCCCGGGCTCTCCCCTTCCTACCCTCTGCTTTCTCTGTTGTAAACAACAGCTGCTCACATCTGGGGGCCACCTCCCAGACATTCCTCATGGAGGAGGCAGTGCTGGCAAGCCACCCTGCCTCCTCCAGCCCTGACCTCTGGCAGTGGGTCCCAGCTCCCTGACCTCCTCTCTCTGGTGGATATAGCTAACACTTTTAAAAGTTGAGGCTTTTGGTTGTTTGTTTTTAATTGTTTTTCCCAAATCCACAGCTGACCTGAAAACTTGAGTTTTTTAAAAATACTTTTTTCTCCAAAATAGGCCAAATCCATTTAGAGCAACTCTTGCAAACTCAACAAAGTGTGAAGAACCAACTAAATGTCTCTCCTAATCCCACTTCCCAGCCATAACCACTGTTAACACGTTAGGTTTTCTCCTGGCCCTTTTCCTCTGTCTTTAAATATTTTCAAATATATGTCGTGTAACTTTTTCAAAGACAATGAAAAGATTATCATATAAAATATTGAGTTCAGTTGTCCCACTGGACAGAGAGGCAAACTGAGCCTATGCAGAGGATCAGAGTTGGCCAGGGCTGCACATCAACCTGACTCCCACCTCTTGGTCTAGACTCTTTACTGTAGTCCTGGTGCCCTCTGGGTTCTCTCTGGTAGAGACCATTGGCTTCACCAGGCAGGACCCTGGTGAATAATGTCAAGATGAAAGGGAGAAGCAGGGCTGGGCCGCTGGGGTGGGAGACCCTGACCCACAGAGATGGACAGTAGGGACCTCCCATGGCCAGAGCCTCAGCCTGGGGTTGGAGGGAACACACTCACGTAGGCCAAGTGCAGTGGGATTCCCAGGGCCTGGAGATGCAGGAAGACACTGCTGTTTACACTGAGGACCAGAAGCACCTCTCGGGGCCAGGTGCCATTTTGCTTGGATGCCTGGAGAGTCAGCTCCAGCTGTGACGGGCCCTGGGGGACACAGAGGAGAGACACACACAGTCCAGTCAGATTTGTATAGGTTGTGCCACCCAGACAGGCAGTGATGATTTGGATGCTTCCACTCCACTCTCCCTGCCTGCTCTGTCCACCCTCACCTCCCAGTGCCCAGGGTAGTGCCTGTCCCTCTGGCCATCCTCAGGGAATTCACAATAAACAAATGAAGGAGGTAAGCCCGGCAAATCTGAAGAGAGAAAAAAAATTAGGCTGGGCACGGTGGCTCACGTCTGTAATCCCAATACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTATAATCTCAGCCACTGGGGAGGCTGAGACACAAGAATTGCTTGAACCCTGGGGGCAGAGGTGGCATTGAGCTGAGATGGCACCACTGCATTCTAGCCTGGGCAACAGAGTGAGACTCCATCTAAAAAAAAAAAAAAAAAAAAGGCCGGGCATGGTGGTTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGTCTGTCCAACATGGTGAAACCCCGTCTTTACTAAAAATACAAAAAATTAGCCAGGTGGGGTGGTGGTGGATGCCTGTAATTCCAACTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCGCTATTGCACTCCAGCCTGGGCAACAAGAATGACGCTCCGTCTCAAAAAAAAAAACAAAAAACAAACAAAAAAAAGGGATGAGCCTGAACTTCATCCATCAAGGATCAAATGAGAACCTGTTGTGTACTGGGCCTTAGGGAGTGTCCTGTGCATGGAGGCAGCGATCCCCTGCCCCATCGTCCCCACCACCTTTCCTGCAGTCCCTGAGTGACAGCTCTGCTTCCAGCCCACATGAGACAGTCACAATTGCTCTCCCAGTTTGCAATATTCCTGCTTGTCTTACCGTTTTAAAGTACTAAAATCCTGGGGGGTTGTTTTGGTATAATGCCATTATTTTGATATAAGAATGTGAAGTTGAAATCATTTATGTCTTGAGACGTACCCACTGCATTAAAATTTTTAATTGTTCAATGATGTATACATTTAGAATGTTTTTATAACAACAGCAATACCTACCTACCACGTAAATAGGGCCTATTAAATCCCAGCAGTGTTCTAAGTGCTTTACACATTAACTCATTTAATCCTTTCAACAACCTTAAGACGTAAATACCATTTTTTTTTTTTTTTTTTAGAGACAGAGTCTCCCTCTGTTGTCCAGACTGGAGTGCAGTGATGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTGCAGGTGCCCACCACGACGCATGGCTAATTTTTTGTATTTTTACTAGAGATGGAGTTTCACCATGTTGGCCAGGTTGGCTTTTTTTTTTTTTCTTTTTTTTTCTTTGAGGCGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAATGGGGCGATCTTGGCTCACTGCAACCTTCGCGTACCAGGTTCAATTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCACTACCATGCCTGGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCCTGCCTGGCCTTTTTTTTTTTTTTTTCTTTCTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAACCCAGTGGCACAATCTCAGCTCACTACAACCTCTGCC
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ACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTGCACGGACTCAGATCGGGAAGGGGGAGGATCCATGGTAAAGGCCACGCCCCCTCTGGGACCTCGATTCCCCTTCTGGGCGGCCGAGGGATGGGCTGCAAGGAGTCAAATCCTCTTGGCCCTGGTGGTTGGATTTGGCCCCCTCCCTCCTAGGACTTTGGCATGCTGGCTTGGTCATGTCTGACTGTCTCTGTGCTGTCCCTGTCACCAGTCCGGAAGCTTCTCCCCTGTCCCCCACGCCCAACTTCGCTCAAGCCTGCCTCCCTCCCGCAGTGGGCATGTTTCTTTCTATGCCTCTCTCCCCTTTGCTATCTTTGCTCTCCCCCGGGCTCTCCCCTTCCTACCCTCTGCTTTCTCTGTTGTAAACAACAGCTGCTCACATCTGGGGGCCACCTCCCAGACATTCCTCATGGAGGAGGCAGTGCTGGCAAGCCACCCTGCCTCCTCCAGCCCTGACCTCTGGCAGTGGGTCCCAGCTCCCTGACCTCCTCTCTCTGGTGGATATAGCTAACACTTTTAAAAGTTGAGGCTTTTGGTTGTTTGTTTTTAATTGTTTTTCCCAAATCCACAGCTGACCTGAAAACTTGAGTTTTTTAAAAATACTTTTTTCTCCAAAATAGGCCAAATCCATTTAGAGCAACTCTTGCAAACTCAACAAAGTGTGAAGAACCAACTAAATGTCTCTCCTAATCCCACTTCCCAGCCATAACCACTGTTAACACGTTAGGTTTTCTCCTGGCCCTTTTCCTCTGTCTTTAAATATTTTCAAATATATGTCGTGTAACTTTTTCAAAGACAATGAAAAGATTATCATATAAAATATTGAGTTCAGTTGTCCCACTGGACAGAGAGGCAAACTGAGCCTATGCAGAGGATCAGAGTTGGCCAGGGCTGCACATCAACCTGACTCCCACCTCTTGGTCTAGACTCTTTACTGTAGTCCTGGTGCCCTCTGGGTTCTCTCTGGTAGAGACCATTGGCTTCACCAGGCAGGACCCTGGTGAATAATGTCAAGATGAAAGGGAGAAGCAGGGCTGGGCCGCTGGGGTGGGAGACCCTGACCCACAGAGATGGACAGTAGGGACCTCCCATGGCCAGAGCCTCAGCCTGGGGTTGGAGGGAACACACTCACGTAGGCCAAGTGCAGTGGGATTCCCAGGGCCTGGAGATGCAGGAAGTCACTGCTGTTTACACTGAGGACCAGAAGCACCTCTCGGGGCCAGGTGCCATTTTGCTTGGATGCCTGGAGAGTCAGCTCCAGCTGTGACGGGCCCTGGGGGACACAGAGGAGAGACACACACAGTCCAGTCAGATTTGTATAGGTTGTGCCACCCAGACAGGCAGTGATGATTTGGATGCTTCCACTCCACTCTCCCTGCCTGCTCTGTCCACCCTCACCTCCCAGTGCCCAGGGTAGTGCCTGTCCCTCTGGCCATCCTCAGGGAATTCACAATAAACAAATGAAGGAGGTAAGCCCGGCAAATCTGAAGAGAGAAAAAAAATTAGGCTGGGCACGGTGGCTCACGTCTGTAATCCCAATACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTATAATCTCAGCCACTGGGGAGGCTGAGACACAAGAATTGCTTGAACCCTGGGGGCAGAGGTGGCATTGAGCTGAGATGGCACCACTGCATTCTAGCCTGGGCAACAGAGTGAGACTCCATCTAAAAAAAAAAAAAAAAAAAAGGCCGGGCATGGTGGTTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGTCTGTCCAACATGGTGAAACCCCGTCTTTACTAAAAATACAAAAAATTAGCCAGGTGGGGTGGTGGTGGATGCCTGTAATTCCAACTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCGCTATTGCACTCCAGCCTGGGCAACAAGAATGACGCTCCGTCTCAAAAAAAAAAACAAAAAACAAACAAAAAAAAGGGATGAGCCTGAACTTCATCCATCAAGGATCAAATGAGAACCTGTTGTGTACTGGGCCTTAGGGAGTGTCCTGTGCATGGAGGCAGCGATCCCCTGCCCCATCGTCCCCACCACCTTTCCTGCAGTCCCTGAGTGACAGCTCTGCTTCCAGCCCACATGAGACAGTCACAATTGCTCTCCCAGTTTGCAATATTCCTGCTTGTCTTACCGTTTTAAAGTACTAAAATCCTGGGGGGTTGTTTTGGTATAATGCCATTATTTTGATATAAGAATGTGAAGTTGAAATCATTTATGTCTTGAGACGTACCCACTGCATTAAAATTTTTAATTGTTCAATGATGTATACATTTAGAATGTTTTTATAACAACAGCAATACCTACCTACCACGTAAATAGGGCCTATTAAATCCCAGCAGTGTTCTAAGTGCTTTACACATTAACTCATTTAATCCTTTCAACAACCTTAAGACGTAAATACCATTTTTTTTTTTTTTTTTTAGAGACAGAGTCTCCCTCTGTTGTCCAGACTGGAGTGCAGTGATGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTGCAGGTGCCCACCACGACGCATGGCTAATTTTTTGTATTTTTACTAGAGATGGAGTTTCACCATGTTGGCCAGGTTGGCTTTTTTTTTTTTTCTTTTTTTTTCTTTGAGGCGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAATGGGGCGATCTTGGCTCACTGCAACCTTCGCGTACCAGGTTCAATTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCACTACCATGCCTGGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCCTGCCTGGCCTTTTTTTTTTTTTTTTCTTTCTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAACCCAGTGGCACAATCTCAGCTCACTACAACCTCTGCC
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Task1_train_13239
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This gene mutation involves ENG (endoglin) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hereditary hemorrhagic telangiectasia
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AACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTGCACGGACTCAGATCGGGAAGGGGGAGGATCCATGGTAAAGGCCACGCCCCCTCTGGGACCTCGATTCCCCTTCTGGGCGGCCGAGGGATGGGCTGCAAGGAGTCAAATCCTCTTGGCCCTGGTGGTTGGATTTGGCCCCCTCCCTCCTAGGACTTTGGCATGCTGGCTTGGTCATGTCTGACTGTCTCTGTGCTGTCCCTGTCACCAGTCCGGAAGCTTCTCCCCTGTCCCCCACGCCCAACTTCGCTCAAGCCTGCCTCCCTCCCGCAGTGGGCATGTTTCTTTCTATGCCTCTCTCCCCTTTGCTATCTTTGCTCTCCCCCGGGCTCTCCCCTTCCTACCCTCTGCTTTCTCTGTTGTAAACAACAGCTGCTCACATCTGGGGGCCACCTCCCAGACATTCCTCATGGAGGAGGCAGTGCTGGCAAGCCACCCTGCCTCCTCCAGCCCTGACCTCTGGCAGTGGGTCCCAGCTCCCTGACCTCCTCTCTCTGGTGGATATAGCTAACACTTTTAAAAGTTGAGGCTTTTGGTTGTTTGTTTTTAATTGTTTTTCCCAAATCCACAGCTGACCTGAAAACTTGAGTTTTTTAAAAATACTTTTTTCTCCAAAATAGGCCAAATCCATTTAGAGCAACTCTTGCAAACTCAACAAAGTGTGAAGAACCAACTAAATGTCTCTCCTAATCCCACTTCCCAGCCATAACCACTGTTAACACGTTAGGTTTTCTCCTGGCCCTTTTCCTCTGTCTTTAAATATTTTCAAATATATGTCGTGTAACTTTTTCAAAGACAATGAAAAGATTATCATATAAAATATTGAGTTCAGTTGTCCCACTGGACAGAGAGGCAAACTGAGCCTATGCAGAGGATCAGAGTTGGCCAGGGCTGCACATCAACCTGACTCCCACCTCTTGGTCTAGACTCTTTACTGTAGTCCTGGTGCCCTCTGGGTTCTCTCTGGTAGAGACCATTGGCTTCACCAGGCAGGACCCTGGTGAATAATGTCAAGATGAAAGGGAGAAGCAGGGCTGGGCCGCTGGGGTGGGAGACCCTGACCCACAGAGATGGACAGTAGGGACCTCCCATGGCCAGAGCCTCAGCCTGGGGTTGGAGGGAACACACTCACGTAGGCCAAGTGCAGTGGGATTCCCAGGGCCTGGAGATGCAGGAAGACACTGCTGTTTACACTGAGGACCAGAAGCACCTCTCGGGGCCAGGTGCCATTTTGCTTGGATGCCTGGAGAGTCAGCTCCAGCTGTGACGGGCCCTGGGGGACACAGAGGAGAGACACACACAGTCCAGTCAGATTTGTATAGGTTGTGCCACCCAGACAGGCAGTGATGATTTGGATGCTTCCACTCCACTCTCCCTGCCTGCTCTGTCCACCCTCACCTCCCAGTGCCCAGGGTAGTGCCTGTCCCTCTGGCCATCCTCAGGGAATTCACAATAAACAAATGAAGGAGGTAAGCCCGGCAAATCTGAAGAGAGAAAAAAAATTAGGCTGGGCACGGTGGCTCACGTCTGTAATCCCAATACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTATAATCTCAGCCACTGGGGAGGCTGAGACACAAGAATTGCTTGAACCCTGGGGGCAGAGGTGGCATTGAGCTGAGATGGCACCACTGCATTCTAGCCTGGGCAACAGAGTGAGACTCCATCTAAAAAAAAAAAAAAAAAAAAGGCCGGGCATGGTGGTTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGTCTGTCCAACATGGTGAAACCCCGTCTTTACTAAAAATACAAAAAATTAGCCAGGTGGGGTGGTGGTGGATGCCTGTAATTCCAACTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCGCTATTGCACTCCAGCCTGGGCAACAAGAATGACGCTCCGTCTCAAAAAAAAAAACAAAAAACAAACAAAAAAAAGGGATGAGCCTGAACTTCATCCATCAAGGATCAAATGAGAACCTGTTGTGTACTGGGCCTTAGGGAGTGTCCTGTGCATGGAGGCAGCGATCCCCTGCCCCATCGTCCCCACCACCTTTCCTGCAGTCCCTGAGTGACAGCTCTGCTTCCAGCCCACATGAGACAGTCACAATTGCTCTCCCAGTTTGCAATATTCCTGCTTGTCTTACCGTTTTAAAGTACTAAAATCCTGGGGGGTTGTTTTGGTATAATGCCATTATTTTGATATAAGAATGTGAAGTTGAAATCATTTATGTCTTGAGACGTACCCACTGCATTAAAATTTTTAATTGTTCAATGATGTATACATTTAGAATGTTTTTATAACAACAGCAATACCTACCTACCACGTAAATAGGGCCTATTAAATCCCAGCAGTGTTCTAAGTGCTTTACACATTAACTCATTTAATCCTTTCAACAACCTTAAGACGTAAATACCATTTTTTTTTTTTTTTTTTAGAGACAGAGTCTCCCTCTGTTGTCCAGACTGGAGTGCAGTGATGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTGCAGGTGCCCACCACGACGCATGGCTAATTTTTTGTATTTTTACTAGAGATGGAGTTTCACCATGTTGGCCAGGTTGGCTTTTTTTTTTTTTCTTTTTTTTTCTTTGAGGCGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAATGGGGCGATCTTGGCTCACTGCAACCTTCGCGTACCAGGTTCAATTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCACTACCATGCCTGGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCCTGCCTGGCCTTTTTTTTTTTTTTTTCTTTCTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAACCCAGTGGCACAATCTCAGCTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTG
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AACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTGCACGGACTCAGATCGGGAAGGGGGAGGATCCATGGTAAAGGCCACGCCCCCTCTGGGACCTCGATTCCCCTTCTGGGCGGCCGAGGGATGGGCTGCAAGGAGTCAAATCCTCTTGGCCCTGGTGGTTGGATTTGGCCCCCTCCCTCCTAGGACTTTGGCATGCTGGCTTGGTCATGTCTGACTGTCTCTGTGCTGTCCCTGTCACCAGTCCGGAAGCTTCTCCCCTGTCCCCCACGCCCAACTTCGCTCAAGCCTGCCTCCCTCCCGCAGTGGGCATGTTTCTTTCTATGCCTCTCTCCCCTTTGCTATCTTTGCTCTCCCCCGGGCTCTCCCCTTCCTACCCTCTGCTTTCTCTGTTGTAAACAACAGCTGCTCACATCTGGGGGCCACCTCCCAGACATTCCTCATGGAGGAGGCAGTGCTGGCAAGCCACCCTGCCTCCTCCAGCCCTGACCTCTGGCAGTGGGTCCCAGCTCCCTGACCTCCTCTCTCTGGTGGATATAGCTAACACTTTTAAAAGTTGAGGCTTTTGGTTGTTTGTTTTTAATTGTTTTTCCCAAATCCACAGCTGACCTGAAAACTTGAGTTTTTTAAAAATACTTTTTTCTCCAAAATAGGCCAAATCCATTTAGAGCAACTCTTGCAAACTCAACAAAGTGTGAAGAACCAACTAAATGTCTCTCCTAATCCCACTTCCCAGCCATAACCACTGTTAACACGTTAGGTTTTCTCCTGGCCCTTTTCCTCTGTCTTTAAATATTTTCAAATATATGTCGTGTAACTTTTTCAAAGACAATGAAAAGATTATCATATAAAATATTGAGTTCAGTTGTCCCACTGGACAGAGAGGCAAACTGAGCCTATGCAGAGGATCAGAGTTGGCCAGGGCTGCACATCAACCTGACTCCCACCTCTTGGTCTAGACTCTTTACTGTAGTCCTGGTGCCCTCTGGGTTCTCTCTGGTAGAGACCATTGGCTTCACCAGGCAGGACCCTGGTGAATAATGTCAAGATGAAAGGGAGAAGCAGGGCTGGGCCGCTGGGGTGGGAGACCCTGACCCACAGAGATGGACAGTAGGGACCTCCCATGGCCAGAGCCTCAGCCTGGGGTTGGAGGGAACACACTCACGTAGGCCAAGTGCAGTGGGATTCCCAGGGCCTGGAGATGCAGGAAGACACTGCTGTTTACACTGAGGACCCGAAGCACCTCTCGGGGCCAGGTGCCATTTTGCTTGGATGCCTGGAGAGTCAGCTCCAGCTGTGACGGGCCCTGGGGGACACAGAGGAGAGACACACACAGTCCAGTCAGATTTGTATAGGTTGTGCCACCCAGACAGGCAGTGATGATTTGGATGCTTCCACTCCACTCTCCCTGCCTGCTCTGTCCACCCTCACCTCCCAGTGCCCAGGGTAGTGCCTGTCCCTCTGGCCATCCTCAGGGAATTCACAATAAACAAATGAAGGAGGTAAGCCCGGCAAATCTGAAGAGAGAAAAAAAATTAGGCTGGGCACGGTGGCTCACGTCTGTAATCCCAATACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTATAATCTCAGCCACTGGGGAGGCTGAGACACAAGAATTGCTTGAACCCTGGGGGCAGAGGTGGCATTGAGCTGAGATGGCACCACTGCATTCTAGCCTGGGCAACAGAGTGAGACTCCATCTAAAAAAAAAAAAAAAAAAAAGGCCGGGCATGGTGGTTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGTCTGTCCAACATGGTGAAACCCCGTCTTTACTAAAAATACAAAAAATTAGCCAGGTGGGGTGGTGGTGGATGCCTGTAATTCCAACTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCGCTATTGCACTCCAGCCTGGGCAACAAGAATGACGCTCCGTCTCAAAAAAAAAAACAAAAAACAAACAAAAAAAAGGGATGAGCCTGAACTTCATCCATCAAGGATCAAATGAGAACCTGTTGTGTACTGGGCCTTAGGGAGTGTCCTGTGCATGGAGGCAGCGATCCCCTGCCCCATCGTCCCCACCACCTTTCCTGCAGTCCCTGAGTGACAGCTCTGCTTCCAGCCCACATGAGACAGTCACAATTGCTCTCCCAGTTTGCAATATTCCTGCTTGTCTTACCGTTTTAAAGTACTAAAATCCTGGGGGGTTGTTTTGGTATAATGCCATTATTTTGATATAAGAATGTGAAGTTGAAATCATTTATGTCTTGAGACGTACCCACTGCATTAAAATTTTTAATTGTTCAATGATGTATACATTTAGAATGTTTTTATAACAACAGCAATACCTACCTACCACGTAAATAGGGCCTATTAAATCCCAGCAGTGTTCTAAGTGCTTTACACATTAACTCATTTAATCCTTTCAACAACCTTAAGACGTAAATACCATTTTTTTTTTTTTTTTTTAGAGACAGAGTCTCCCTCTGTTGTCCAGACTGGAGTGCAGTGATGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTGCAGGTGCCCACCACGACGCATGGCTAATTTTTTGTATTTTTACTAGAGATGGAGTTTCACCATGTTGGCCAGGTTGGCTTTTTTTTTTTTTCTTTTTTTTTCTTTGAGGCGGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAATGGGGCGATCTTGGCTCACTGCAACCTTCGCGTACCAGGTTCAATTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCACTACCATGCCTGGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCCTGCCTGGCCTTTTTTTTTTTTTTTTCTTTCTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAACCCAGTGGCACAATCTCAGCTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTG
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Task1_train_13240
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Located on Chromosome 9, this mutation impacts ENG (endoglin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Hereditary hemorrhagic telangiectasia
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AGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAAACAATGCGAACTAACAGAGGCAGTCGTATTTTGAATATCATTACCAAATTTGAAAAAAAAAAATGACAATGCCTATGGAAACCACACAAAGTGTGTTTGGCACTATCTATGATTTGGAAATTATCAAAGCCCACAGTCCTCGTAGAGGGCAGGGCGGTGGGGAGCAGGGTCCCCCGATATTGGTGGTCTGAGCACTTTCTTATCACTGCACAAACGCAAGGCAACTTAACAGTTTTGGGGGCAGATTGGCCATAAGTTTACCCGGAGCTGACACGGCGAAGTCAGTATCGGGACCAAAGGCCACATCAACCAGGTGTAATCTCCAGTCCAACAGGCCAGAAGCCACCTGAACACTGAGATCCACGTGGGGAACCAAGTGGCAGGCTGGCTCTGGCATCCCCAGGGATCTGGTGTGAACTCTGGCCCTGGGCACGTCACTCCATCGCTCTCAGCCAGCCTCAGTTTCCTTCTCCAAGAAGTGGGGATAATAACAGACCCTGGCAGATGAGCCTTGGGAGGCTTAATACATGTGAGATGCTTAATTCCTGGCATAGAGTCGGCCCTAGCACAGTCTCTAGCACATAGCGCTTAACAAAGGTGTTGTTATTATTCAGGACAGACGTATCAGACAAACTGATGGTGGGCTGGGAGTGGGGGTCTCCTGGGGAGAATCGTCTCCAGGCCGGCAGCAGCCTTTGGATCTCTGAGGGTCACAGATATTCAGCAGGGGACATTCCAGGGAGAAAGATCTGGGCTCAACTGAAAAGCACTTCTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATGTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTACAGCTGGGATTACAGGCATGCGCCACTATGCCTAGCTAATTTTTGTATTTTTATTTTATTTTTATTTTTTTATTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCAGGCCAGAGTGCAGTGGCACAATCTCAAGCTCACTGCAACCTCCAACTCACTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCTCACCACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGAATGGTCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCTAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGGCTGGCCCAAGAAGCACTTTTCAAAGTCCAAGCTCCCTAGAGAGGAGCTGCATTCTTCTGAGATTCTGTGAGGTCTCCATCATTGGAGGTGCATAAGCAACACTCACCTGGTCCCCCCCACCCATCTGGCTCTTCTCTACTCAGCTCTTCCCACCTGAGTCTTCTGGTGGCACCCAAAAGACTGCCCTGATCCAGACCCTGCCCCTAGAAATGCCACCTCTTATGGGCCCTGTGAGATGCCCACATCACTCTCTTGGCAGGGGGCCTAACGAGGACTCAGCCACTGCCCCAGGGACAGCCACAAGGAAGGCACCCCTCACCCCATCTGCCTTGGAGCTTCCTCTGAGCCCCCACCCGACCCTGCCATGGGACACTCACCGTTGGGAACTCCAGGAAGAGGACATGGACTTCAAGGATGGCATTGGGGGCCTGAGCCACGCAGCCCTTCGAGACCTGGCTAGTGGTATATGTCACCTCGCCCCTCTCGGGGCCCACAGGCTGAAGGTCACAATGGACTGTTTCTGCAAGACCTGTTGGAGAAACATCCGGAAAGAGGCCAGGTGAGAATAAGGTGATGACAATGACTCCTACTTTCCAAACGTCTCCTAGGGACTTGACATGAGCTAACGGCTTTCCTGCATCATCACAGCCACCTTATGAGGTGGATATCATTATATTCGTTCCATGGATTAAAAAAAACCAAGGCTAGGAGAGGAAACGTCTCCTGCCCAAGGTCACAGCGCTACTACGTATAGGGTCGATGAATAGAAGGACACCCAGCTAAATTTAAATTTCAGATAAACAATGAGTGCATTTTTTTAAGTATTAGTATATTGCAAATATTGCATGGAACGTACTTATACTAAATTTTCATTGTTTATCTGAAATTCGGATTTCACTGGGCCCCATGTATATATGTGTGTGTGTATATATACATACACACACATATACATAGATCTACATATATACATACATATATACATATATAGATATACATATATACACCCACACATCCACATACATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTCTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGCGATGGGGTTTCTCCATGTTGCTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGCCTCCTATATTTTTATTTTTTATTTATTTTTAAAAATTATTTTTTATTATTTATTTTATTTTATTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAACAGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAAAGATGGGGCTTCTCCATGTTGGTCAGGCTCGTCTTGAACTCCCAACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCCTATTTTTTATTTTTTTGAGACAGACTCTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCAAAATCATAGCTCACTGCAGCCTCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCTCGGCCTCCTGAGTAGCTGGAACTATAGGCATGCACCACCACATCCAGCTAATTTTTGCATTTTTATAGAGATGAGGTTTCACCATGTTGCTCAAGCTGGTATTGAACTCCTGGACTCAAGAGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCGGCTGATTTTCATTTGATGTATCTGGCAACCCTAACTTCATGGCAGGGCCTAGGTGTGAACCCAAGTCTCCCTCCAGGTAAGGCAGGAGCTGAGCTCAGGAGACAAAGCTTCCCCTCTCTTGCCTCAAGGTGGTGGGAGGAATGGTCTGAAGGGGTTGAGAGTTCCCTAGCCCCAAGGGACAGGGCGAGCCGAGAAGGCGGCCCAGGTTTGGAGGCTGCCAGAGCAGACCGCAGAGCCCGGAAACACAGGTCCTGAGGGAAAGGAATGGAATTTCACCCTGACCCAGCAGGGTCGGAAAAGGAAATGAGGCTCCTACACCTCGTCCTGAGGAATGTGCCGGGGGAAGGGGGCTCCGGAGGAGGGAAGGAGGACAGAAGGGGAGACTGTTTGGAAGTTTGTGTCTCCATCTTGTCGCGCTCACTTCCTGTTTTCTTGGAGATCAAAGATGGGCGCGGAGAGACTGGCTTCATGTCCAGCCAAGGCCGGCTCA
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AGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAAACAATGCGAACTAACAGAGGCAGTCGTATTTTGAATATCATTACCAAATTTGAAAAAAAAAAATGACAATGCCTATGGAAACCACACAAAGTGTGTTTGGCACTATCTATGATTTGGAAATTATCAAAGCCCACAGTCCTCGTAGAGGGCAGGGCGGTGGGGAGCAGGGTCCCCCGATATTGGTGGTCTGAGCACTTTCTTATCACTGCACAAACGCAAGGCAACTTAACAGTTTTGGGGGCAGATTGGCCATAAGTTTACCCGGAGCTGACACGGCGAAGTCAGTATCGGGACCAAAGGCCACATCAACCAGGTGTAATCTCCAGTCCAACAGGCCAGAAGCCACCTGAACACTGAGATCCACGTGGGGAACCAAGTGGCAGGCTGGCTCTGGCATCCCCAGGGATCTGGTGTGAACTCTGGCCCTGGGCACGTCACTCCATCGCTCTCAGCCAGCCTCAGTTTCCTTCTCCAAGAAGTGGGGATAATAACAGACCCTGGCAGATGAGCCTTGGGAGGCTTAATACATGTGAGATGCTTAATTCCTGGCATAGAGTCGGCCCTAGCACAGTCTCTAGCACATAGCGCTTAACAAAGGTGTTGTTATTATTCAGGACAGACGTATCAGACAAACTGATGGTGGGCTGGGAGTGGGGGTCTCCTGGGGAGAATCGTCTCCAGGCCGGCAGCAGCCTTTGGATCTCTGAGGGTCACAGATATTCAGCAGGGGACATTCCAGGGAGAAAGATCTGGGCTCAACTGAAAAGCACTTCTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATGTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTACAGCTGGGATTACAGGCATGCGCCACTATGCCTAGCTAATTTTTGTATTTTTATTTTATTTTTATTTTTTTATTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCAGGCCAGAGTGCAGTGGCACAATCTCAAGCTCACTGCAACCTCCAACTCACTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCTCACCACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGAATGGTCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCTAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGGCTGGCCCAAGAAGCACTTTTCAAAGTCCAAGCTCCCTAGAGAGGAGCTGCATTCTTCTGAGATTCTGTGAGGTCTCCATCATTGGAGGTGCATAAGCAACACTCACCTGGTCCCCCCCACCCATCTGGCTCTTCTCTACTCAGCTCTTCCCACCTGAGTCTTCTGGTGGCACCCAAAAGACTGCCCTGATCCAGACCCTGCCCCTAGAAATGCCACCTCTTATGGGCCCTGTGAGATGCCCACATCACTCTCTTGGCAGGGGGCCTAACGAGGACTCAGCCACTGCCCCAGGGACAGCCACAAGGAAGGCACCCCTCACCCCATCTGCCTTGGAGCTTCCTCTGAGCCCCCACCCGACCCTGCCATGGGACACTCACCGTTGGGAACTCCAGGAAGAGGACATGGACTTCAAGGATGGCATTGGGGGCCTGAGCCACGCAGCCCTTCGAGAACTGGCTAGTGGTATATGTCACCTCGCCCCTCTCGGGGCCCACAGGCTGAAGGTCACAATGGACTGTTTCTGCAAGACCTGTTGGAGAAACATCCGGAAAGAGGCCAGGTGAGAATAAGGTGATGACAATGACTCCTACTTTCCAAACGTCTCCTAGGGACTTGACATGAGCTAACGGCTTTCCTGCATCATCACAGCCACCTTATGAGGTGGATATCATTATATTCGTTCCATGGATTAAAAAAAACCAAGGCTAGGAGAGGAAACGTCTCCTGCCCAAGGTCACAGCGCTACTACGTATAGGGTCGATGAATAGAAGGACACCCAGCTAAATTTAAATTTCAGATAAACAATGAGTGCATTTTTTTAAGTATTAGTATATTGCAAATATTGCATGGAACGTACTTATACTAAATTTTCATTGTTTATCTGAAATTCGGATTTCACTGGGCCCCATGTATATATGTGTGTGTGTATATATACATACACACACATATACATAGATCTACATATATACATACATATATACATATATAGATATACATATATACACCCACACATCCACATACATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTCTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGCGATGGGGTTTCTCCATGTTGCTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGCCTCCTATATTTTTATTTTTTATTTATTTTTAAAAATTATTTTTTATTATTTATTTTATTTTATTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAACAGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAAAGATGGGGCTTCTCCATGTTGGTCAGGCTCGTCTTGAACTCCCAACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCCTATTTTTTATTTTTTTGAGACAGACTCTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCAAAATCATAGCTCACTGCAGCCTCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCTCGGCCTCCTGAGTAGCTGGAACTATAGGCATGCACCACCACATCCAGCTAATTTTTGCATTTTTATAGAGATGAGGTTTCACCATGTTGCTCAAGCTGGTATTGAACTCCTGGACTCAAGAGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCGGCTGATTTTCATTTGATGTATCTGGCAACCCTAACTTCATGGCAGGGCCTAGGTGTGAACCCAAGTCTCCCTCCAGGTAAGGCAGGAGCTGAGCTCAGGAGACAAAGCTTCCCCTCTCTTGCCTCAAGGTGGTGGGAGGAATGGTCTGAAGGGGTTGAGAGTTCCCTAGCCCCAAGGGACAGGGCGAGCCGAGAAGGCGGCCCAGGTTTGGAGGCTGCCAGAGCAGACCGCAGAGCCCGGAAACACAGGTCCTGAGGGAAAGGAATGGAATTTCACCCTGACCCAGCAGGGTCGGAAAAGGAAATGAGGCTCCTACACCTCGTCCTGAGGAATGTGCCGGGGGAAGGGGGCTCCGGAGGAGGGAAGGAGGACAGAAGGGGAGACTGTTTGGAAGTTTGTGTCTCCATCTTGTCGCGCTCACTTCCTGTTTTCTTGGAGATCAAAGATGGGCGCGGAGAGACTGGCTTCATGTCCAGCCAAGGCCGGCTCA
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Task1_train_13241
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A mutation found in ENG (endoglin) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 1
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AGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAAACAATGCGAACTAACAGAGGCAGTCGTATTTTGAATATCATTACCAAATTTGAAAAAAAAAAATGACAATGCCTATGGAAACCACACAAAGTGTGTTTGGCACTATCTATGATTTGGAAATTATCAAAGCCCACAGTCCTCGTAGAGGGCAGGGCGGTGGGGAGCAGGGTCCCCCGATATTGGTGGTCTGAGCACTTTCTTATCACTGCACAAACGCAAGGCAACTTAACAGTTTTGGGGGCAGATTGGCCATAAGTTTACCCGGAGCTGACACGGCGAAGTCAGTATCGGGACCAAAGGCCACATCAACCAGGTGTAATCTCCAGTCCAACAGGCCAGAAGCCACCTGAACACTGAGATCCACGTGGGGAACCAAGTGGCAGGCTGGCTCTGGCATCCCCAGGGATCTGGTGTGAACTCTGGCCCTGGGCACGTCACTCCATCGCTCTCAGCCAGCCTCAGTTTCCTTCTCCAAGAAGTGGGGATAATAACAGACCCTGGCAGATGAGCCTTGGGAGGCTTAATACATGTGAGATGCTTAATTCCTGGCATAGAGTCGGCCCTAGCACAGTCTCTAGCACATAGCGCTTAACAAAGGTGTTGTTATTATTCAGGACAGACGTATCAGACAAACTGATGGTGGGCTGGGAGTGGGGGTCTCCTGGGGAGAATCGTCTCCAGGCCGGCAGCAGCCTTTGGATCTCTGAGGGTCACAGATATTCAGCAGGGGACATTCCAGGGAGAAAGATCTGGGCTCAACTGAAAAGCACTTCTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATGTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTACAGCTGGGATTACAGGCATGCGCCACTATGCCTAGCTAATTTTTGTATTTTTATTTTATTTTTATTTTTTTATTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCAGGCCAGAGTGCAGTGGCACAATCTCAAGCTCACTGCAACCTCCAACTCACTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCTCACCACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGAATGGTCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCTAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGGCTGGCCCAAGAAGCACTTTTCAAAGTCCAAGCTCCCTAGAGAGGAGCTGCATTCTTCTGAGATTCTGTGAGGTCTCCATCATTGGAGGTGCATAAGCAACACTCACCTGGTCCCCCCCACCCATCTGGCTCTTCTCTACTCAGCTCTTCCCACCTGAGTCTTCTGGTGGCACCCAAAAGACTGCCCTGATCCAGACCCTGCCCCTAGAAATGCCACCTCTTATGGGCCCTGTGAGATGCCCACATCACTCTCTTGGCAGGGGGCCTAACGAGGACTCAGCCACTGCCCCAGGGACAGCCACAAGGAAGGCACCCCTCACCCCATCTGCCTTGGAGCTTCCTCTGAGCCCCCACCCGACCCTGCCATGGGACACTCACCGTTGGGAACTCCAGGAAGAGGACATGGACTTCAAGGATGGCATTGGGGGCCTGAGCCACGCAGCCCTTCGAGACCTGGCTAGTGGTATATGTCACCTCGCCCCTCTCGGGGCCCACAGGCTGAAGGTCACAATGGACTGTTTCTGCAAGACCTGTTGGAGAAACATCCGGAAAGAGGCCAGGTGAGAATAAGGTGATGACAATGACTCCTACTTTCCAAACGTCTCCTAGGGACTTGACATGAGCTAACGGCTTTCCTGCATCATCACAGCCACCTTATGAGGTGGATATCATTATATTCGTTCCATGGATTAAAAAAAACCAAGGCTAGGAGAGGAAACGTCTCCTGCCCAAGGTCACAGCGCTACTACGTATAGGGTCGATGAATAGAAGGACACCCAGCTAAATTTAAATTTCAGATAAACAATGAGTGCATTTTTTTAAGTATTAGTATATTGCAAATATTGCATGGAACGTACTTATACTAAATTTTCATTGTTTATCTGAAATTCGGATTTCACTGGGCCCCATGTATATATGTGTGTGTGTATATATACATACACACACATATACATAGATCTACATATATACATACATATATACATATATAGATATACATATATACACCCACACATCCACATACATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTCTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGCGATGGGGTTTCTCCATGTTGCTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGCCTCCTATATTTTTATTTTTTATTTATTTTTAAAAATTATTTTTTATTATTTATTTTATTTTATTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAACAGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAAAGATGGGGCTTCTCCATGTTGGTCAGGCTCGTCTTGAACTCCCAACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCCTATTTTTTATTTTTTTGAGACAGACTCTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCAAAATCATAGCTCACTGCAGCCTCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCTCGGCCTCCTGAGTAGCTGGAACTATAGGCATGCACCACCACATCCAGCTAATTTTTGCATTTTTATAGAGATGAGGTTTCACCATGTTGCTCAAGCTGGTATTGAACTCCTGGACTCAAGAGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCGGCTGATTTTCATTTGATGTATCTGGCAACCCTAACTTCATGGCAGGGCCTAGGTGTGAACCCAAGTCTCCCTCCAGGTAAGGCAGGAGCTGAGCTCAGGAGACAAAGCTTCCCCTCTCTTGCCTCAAGGTGGTGGGAGGAATGGTCTGAAGGGGTTGAGAGTTCCCTAGCCCCAAGGGACAGGGCGAGCCGAGAAGGCGGCCCAGGTTTGGAGGCTGCCAGAGCAGACCGCAGAGCCCGGAAACACAGGTCCTGAGGGAAAGGAATGGAATTTCACCCTGACCCAGCAGGGTCGGAAAAGGAAATGAGGCTCCTACACCTCGTCCTGAGGAATGTGCCGGGGGAAGGGGGCTCCGGAGGAGGGAAGGAGGACAGAAGGGGAGACTGTTTGGAAGTTTGTGTCTCCATCTTGTCGCGCTCACTTCCTGTTTTCTTGGAGATCAAAGATGGGCGCGGAGAGACTGGCTTCATGTCCAGCCAAGGCCGGCTCA
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AGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAAACAATGCGAACTAACAGAGGCAGTCGTATTTTGAATATCATTACCAAATTTGAAAAAAAAAAATGACAATGCCTATGGAAACCACACAAAGTGTGTTTGGCACTATCTATGATTTGGAAATTATCAAAGCCCACAGTCCTCGTAGAGGGCAGGGCGGTGGGGAGCAGGGTCCCCCGATATTGGTGGTCTGAGCACTTTCTTATCACTGCACAAACGCAAGGCAACTTAACAGTTTTGGGGGCAGATTGGCCATAAGTTTACCCGGAGCTGACACGGCGAAGTCAGTATCGGGACCAAAGGCCACATCAACCAGGTGTAATCTCCAGTCCAACAGGCCAGAAGCCACCTGAACACTGAGATCCACGTGGGGAACCAAGTGGCAGGCTGGCTCTGGCATCCCCAGGGATCTGGTGTGAACTCTGGCCCTGGGCACGTCACTCCATCGCTCTCAGCCAGCCTCAGTTTCCTTCTCCAAGAAGTGGGGATAATAACAGACCCTGGCAGATGAGCCTTGGGAGGCTTAATACATGTGAGATGCTTAATTCCTGGCATAGAGTCGGCCCTAGCACAGTCTCTAGCACATAGCGCTTAACAAAGGTGTTGTTATTATTCAGGACAGACGTATCAGACAAACTGATGGTGGGCTGGGAGTGGGGGTCTCCTGGGGAGAATCGTCTCCAGGCCGGCAGCAGCCTTTGGATCTCTGAGGGTCACAGATATTCAGCAGGGGACATTCCAGGGAGAAAGATCTGGGCTCAACTGAAAAGCACTTCTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATGTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTACAGCTGGGATTACAGGCATGCGCCACTATGCCTAGCTAATTTTTGTATTTTTATTTTATTTTTATTTTTTTATTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCAGGCCAGAGTGCAGTGGCACAATCTCAAGCTCACTGCAACCTCCAACTCACTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCTCACCACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGAATGGTCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCTAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGGCTGGCCCAAGAAGCACTTTTCAAAGTCCAAGCTCCCTAGAGAGGAGCTGCATTCTTCTGAGATTCTGTGAGGTCTCCATCATTGGAGGTGCATAAGCAACACTCACCTGGTCCCCCCCACCCATCTGGCTCTTCTCTACTCAGCTCTTCCCACCTGAGTCTTCTGGTGGCACCCAAAAGACTGCCCTGATCCAGACCCTGCCCCTAGAAATGCCACCTCTTATGGGCCCTGTGAGATGCCCACATCACTCTCTTGGCAGGGGGCCTAACGAGGACTCAGCCACTGCCCCAGGGACAGCCACAAGGAAGGCACCCCTCACCCCATCTGCCTTGGAGCTTCCTCTGAGCCCCCACCCGACCCTGCCATGGGACACTCACCGTTGGGAACTCCAGGAAGAGGACATGGACTTCAAGGATGGCATTGGGGGCCTGAGCCACGCAGCCCTTCGAGAACTGGCTAGTGGTATATGTCACCTCGCCCCTCTCGGGGCCCACAGGCTGAAGGTCACAATGGACTGTTTCTGCAAGACCTGTTGGAGAAACATCCGGAAAGAGGCCAGGTGAGAATAAGGTGATGACAATGACTCCTACTTTCCAAACGTCTCCTAGGGACTTGACATGAGCTAACGGCTTTCCTGCATCATCACAGCCACCTTATGAGGTGGATATCATTATATTCGTTCCATGGATTAAAAAAAACCAAGGCTAGGAGAGGAAACGTCTCCTGCCCAAGGTCACAGCGCTACTACGTATAGGGTCGATGAATAGAAGGACACCCAGCTAAATTTAAATTTCAGATAAACAATGAGTGCATTTTTTTAAGTATTAGTATATTGCAAATATTGCATGGAACGTACTTATACTAAATTTTCATTGTTTATCTGAAATTCGGATTTCACTGGGCCCCATGTATATATGTGTGTGTGTATATATACATACACACACATATACATAGATCTACATATATACATACATATATACATATATAGATATACATATATACACCCACACATCCACATACATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTCTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGCGATGGGGTTTCTCCATGTTGCTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGCCTCCTATATTTTTATTTTTTATTTATTTTTAAAAATTATTTTTTATTATTTATTTTATTTTATTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAACAGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAAAGATGGGGCTTCTCCATGTTGGTCAGGCTCGTCTTGAACTCCCAACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCCTATTTTTTATTTTTTTGAGACAGACTCTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCAAAATCATAGCTCACTGCAGCCTCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCTCGGCCTCCTGAGTAGCTGGAACTATAGGCATGCACCACCACATCCAGCTAATTTTTGCATTTTTATAGAGATGAGGTTTCACCATGTTGCTCAAGCTGGTATTGAACTCCTGGACTCAAGAGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCGGCTGATTTTCATTTGATGTATCTGGCAACCCTAACTTCATGGCAGGGCCTAGGTGTGAACCCAAGTCTCCCTCCAGGTAAGGCAGGAGCTGAGCTCAGGAGACAAAGCTTCCCCTCTCTTGCCTCAAGGTGGTGGGAGGAATGGTCTGAAGGGGTTGAGAGTTCCCTAGCCCCAAGGGACAGGGCGAGCCGAGAAGGCGGCCCAGGTTTGGAGGCTGCCAGAGCAGACCGCAGAGCCCGGAAACACAGGTCCTGAGGGAAAGGAATGGAATTTCACCCTGACCCAGCAGGGTCGGAAAAGGAAATGAGGCTCCTACACCTCGTCCTGAGGAATGTGCCGGGGGAAGGGGGCTCCGGAGGAGGGAAGGAGGACAGAAGGGGAGACTGTTTGGAAGTTTGTGTCTCCATCTTGTCGCGCTCACTTCCTGTTTTCTTGGAGATCAAAGATGGGCGCGGAGAGACTGGCTTCATGTCCAGCCAAGGCCGGCTCA
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Task1_train_13242
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Gene ENG (endoglin) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Cardiovascular phenotype
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AGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAAACAATGCGAACTAACAGAGGCAGTCGTATTTTGAATATCATTACCAAATTTGAAAAAAAAAAATGACAATGCCTATGGAAACCACACAAAGTGTGTTTGGCACTATCTATGATTTGGAAATTATCAAAGCCCACAGTCCTCGTAGAGGGCAGGGCGGTGGGGAGCAGGGTCCCCCGATATTGGTGGTCTGAGCACTTTCTTATCACTGCACAAACGCAAGGCAACTTAACAGTTTTGGGGGCAGATTGGCCATAAGTTTACCCGGAGCTGACACGGCGAAGTCAGTATCGGGACCAAAGGCCACATCAACCAGGTGTAATCTCCAGTCCAACAGGCCAGAAGCCACCTGAACACTGAGATCCACGTGGGGAACCAAGTGGCAGGCTGGCTCTGGCATCCCCAGGGATCTGGTGTGAACTCTGGCCCTGGGCACGTCACTCCATCGCTCTCAGCCAGCCTCAGTTTCCTTCTCCAAGAAGTGGGGATAATAACAGACCCTGGCAGATGAGCCTTGGGAGGCTTAATACATGTGAGATGCTTAATTCCTGGCATAGAGTCGGCCCTAGCACAGTCTCTAGCACATAGCGCTTAACAAAGGTGTTGTTATTATTCAGGACAGACGTATCAGACAAACTGATGGTGGGCTGGGAGTGGGGGTCTCCTGGGGAGAATCGTCTCCAGGCCGGCAGCAGCCTTTGGATCTCTGAGGGTCACAGATATTCAGCAGGGGACATTCCAGGGAGAAAGATCTGGGCTCAACTGAAAAGCACTTCTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATGTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTACAGCTGGGATTACAGGCATGCGCCACTATGCCTAGCTAATTTTTGTATTTTTATTTTATTTTTATTTTTTTATTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCAGGCCAGAGTGCAGTGGCACAATCTCAAGCTCACTGCAACCTCCAACTCACTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCTCACCACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGAATGGTCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCTAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGGCTGGCCCAAGAAGCACTTTTCAAAGTCCAAGCTCCCTAGAGAGGAGCTGCATTCTTCTGAGATTCTGTGAGGTCTCCATCATTGGAGGTGCATAAGCAACACTCACCTGGTCCCCCCCACCCATCTGGCTCTTCTCTACTCAGCTCTTCCCACCTGAGTCTTCTGGTGGCACCCAAAAGACTGCCCTGATCCAGACCCTGCCCCTAGAAATGCCACCTCTTATGGGCCCTGTGAGATGCCCACATCACTCTCTTGGCAGGGGGCCTAACGAGGACTCAGCCACTGCCCCAGGGACAGCCACAAGGAAGGCACCCCTCACCCCATCTGCCTTGGAGCTTCCTCTGAGCCCCCACCCGACCCTGCCATGGGACACTCACCGTTGGGAACTCCAGGAAGAGGACATGGACTTCAAGGATGGCATTGGGGGCCTGAGCCACGCAGCCCTTCGAGACCTGGCTAGTGGTATATGTCACCTCGCCCCTCTCGGGGCCCACAGGCTGAAGGTCACAATGGACTGTTTCTGCAAGACCTGTTGGAGAAACATCCGGAAAGAGGCCAGGTGAGAATAAGGTGATGACAATGACTCCTACTTTCCAAACGTCTCCTAGGGACTTGACATGAGCTAACGGCTTTCCTGCATCATCACAGCCACCTTATGAGGTGGATATCATTATATTCGTTCCATGGATTAAAAAAAACCAAGGCTAGGAGAGGAAACGTCTCCTGCCCAAGGTCACAGCGCTACTACGTATAGGGTCGATGAATAGAAGGACACCCAGCTAAATTTAAATTTCAGATAAACAATGAGTGCATTTTTTTAAGTATTAGTATATTGCAAATATTGCATGGAACGTACTTATACTAAATTTTCATTGTTTATCTGAAATTCGGATTTCACTGGGCCCCATGTATATATGTGTGTGTGTATATATACATACACACACATATACATAGATCTACATATATACATACATATATACATATATAGATATACATATATACACCCACACATCCACATACATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTCTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGCGATGGGGTTTCTCCATGTTGCTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGCCTCCTATATTTTTATTTTTTATTTATTTTTAAAAATTATTTTTTATTATTTATTTTATTTTATTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAACAGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAAAGATGGGGCTTCTCCATGTTGGTCAGGCTCGTCTTGAACTCCCAACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCCTATTTTTTATTTTTTTGAGACAGACTCTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCAAAATCATAGCTCACTGCAGCCTCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCTCGGCCTCCTGAGTAGCTGGAACTATAGGCATGCACCACCACATCCAGCTAATTTTTGCATTTTTATAGAGATGAGGTTTCACCATGTTGCTCAAGCTGGTATTGAACTCCTGGACTCAAGAGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCGGCTGATTTTCATTTGATGTATCTGGCAACCCTAACTTCATGGCAGGGCCTAGGTGTGAACCCAAGTCTCCCTCCAGGTAAGGCAGGAGCTGAGCTCAGGAGACAAAGCTTCCCCTCTCTTGCCTCAAGGTGGTGGGAGGAATGGTCTGAAGGGGTTGAGAGTTCCCTAGCCCCAAGGGACAGGGCGAGCCGAGAAGGCGGCCCAGGTTTGGAGGCTGCCAGAGCAGACCGCAGAGCCCGGAAACACAGGTCCTGAGGGAAAGGAATGGAATTTCACCCTGACCCAGCAGGGTCGGAAAAGGAAATGAGGCTCCTACACCTCGTCCTGAGGAATGTGCCGGGGGAAGGGGGCTCCGGAGGAGGGAAGGAGGACAGAAGGGGAGACTGTTTGGAAGTTTGTGTCTCCATCTTGTCGCGCTCACTTCCTGTTTTCTTGGAGATCAAAGATGGGCGCGGAGAGACTGGCTTCATGTCCAGCCAAGGCCGGCTCA
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AGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAAACAATGCGAACTAACAGAGGCAGTCGTATTTTGAATATCATTACCAAATTTGAAAAAAAAAAATGACAATGCCTATGGAAACCACACAAAGTGTGTTTGGCACTATCTATGATTTGGAAATTATCAAAGCCCACAGTCCTCGTAGAGGGCAGGGCGGTGGGGAGCAGGGTCCCCCGATATTGGTGGTCTGAGCACTTTCTTATCACTGCACAAACGCAAGGCAACTTAACAGTTTTGGGGGCAGATTGGCCATAAGTTTACCCGGAGCTGACACGGCGAAGTCAGTATCGGGACCAAAGGCCACATCAACCAGGTGTAATCTCCAGTCCAACAGGCCAGAAGCCACCTGAACACTGAGATCCACGTGGGGAACCAAGTGGCAGGCTGGCTCTGGCATCCCCAGGGATCTGGTGTGAACTCTGGCCCTGGGCACGTCACTCCATCGCTCTCAGCCAGCCTCAGTTTCCTTCTCCAAGAAGTGGGGATAATAACAGACCCTGGCAGATGAGCCTTGGGAGGCTTAATACATGTGAGATGCTTAATTCCTGGCATAGAGTCGGCCCTAGCACAGTCTCTAGCACATAGCGCTTAACAAAGGTGTTGTTATTATTCAGGACAGACGTATCAGACAAACTGATGGTGGGCTGGGAGTGGGGGTCTCCTGGGGAGAATCGTCTCCAGGCCGGCAGCAGCCTTTGGATCTCTGAGGGTCACAGATATTCAGCAGGGGACATTCCAGGGAGAAAGATCTGGGCTCAACTGAAAAGCACTTCTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATGTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTACAGCTGGGATTACAGGCATGCGCCACTATGCCTAGCTAATTTTTGTATTTTTATTTTATTTTTATTTTTTTATTTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCAGGCCAGAGTGCAGTGGCACAATCTCAAGCTCACTGCAACCTCCAACTCACTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCTCACCACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGAATGGTCTCGATCTCCTGACCTCGTGATCTACCCGCCTCGGCCTCCTAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGGCTGGCCCAAGAAGCACTTTTCAAAGTCCAAGCTCCCTAGAGAGGAGCTGCATTCTTCTGAGATTCTGTGAGGTCTCCATCATTGGAGGTGCATAAGCAACACTCACCTGGTCCCCCCCACCCATCTGGCTCTTCTCTACTCAGCTCTTCCCACCTGAGTCTTCTGGTGGCACCCAAAAGACTGCCCTGATCCAGACCCTGCCCCTAGAAATGCCACCTCTTATGGGCCCTGTGAGATGCCCACATCACTCTCTTGGCAGGGGGCCTAACGAGGACTCAGCCACTGCCCCAGGGACAGCCACAAGGAAGGCACCCCTCACCCCATCTGCCTTGGAGCTTCCTCTGAGCCCCCACCCGACCCTGCCATGGGACACTCACCGTTGGGAACTCCAGGAAGAGGACATGGACTTCAAGGATGGCATTGGGGGCCTGAGCCACGCAGCCCTTCGAGAACTGGCTAGTGGTATATGTCACCTCGCCCCTCTCGGGGCCCACAGGCTGAAGGTCACAATGGACTGTTTCTGCAAGACCTGTTGGAGAAACATCCGGAAAGAGGCCAGGTGAGAATAAGGTGATGACAATGACTCCTACTTTCCAAACGTCTCCTAGGGACTTGACATGAGCTAACGGCTTTCCTGCATCATCACAGCCACCTTATGAGGTGGATATCATTATATTCGTTCCATGGATTAAAAAAAACCAAGGCTAGGAGAGGAAACGTCTCCTGCCCAAGGTCACAGCGCTACTACGTATAGGGTCGATGAATAGAAGGACACCCAGCTAAATTTAAATTTCAGATAAACAATGAGTGCATTTTTTTAAGTATTAGTATATTGCAAATATTGCATGGAACGTACTTATACTAAATTTTCATTGTTTATCTGAAATTCGGATTTCACTGGGCCCCATGTATATATGTGTGTGTGTATATATACATACACACACATATACATAGATCTACATATATACATACATATATACATATATAGATATACATATATACACCCACACATCCACATACATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTCTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGCGATGGGGTTTCTCCATGTTGCTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGCCTCCTATATTTTTATTTTTTATTTATTTTTAAAAATTATTTTTTATTATTTATTTTATTTTATTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAACAGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAAAGATGGGGCTTCTCCATGTTGGTCAGGCTCGTCTTGAACTCCCAACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCCTATTTTTTATTTTTTTGAGACAGACTCTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCAAAATCATAGCTCACTGCAGCCTCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCTCGGCCTCCTGAGTAGCTGGAACTATAGGCATGCACCACCACATCCAGCTAATTTTTGCATTTTTATAGAGATGAGGTTTCACCATGTTGCTCAAGCTGGTATTGAACTCCTGGACTCAAGAGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCGGCTGATTTTCATTTGATGTATCTGGCAACCCTAACTTCATGGCAGGGCCTAGGTGTGAACCCAAGTCTCCCTCCAGGTAAGGCAGGAGCTGAGCTCAGGAGACAAAGCTTCCCCTCTCTTGCCTCAAGGTGGTGGGAGGAATGGTCTGAAGGGGTTGAGAGTTCCCTAGCCCCAAGGGACAGGGCGAGCCGAGAAGGCGGCCCAGGTTTGGAGGCTGCCAGAGCAGACCGCAGAGCCCGGAAACACAGGTCCTGAGGGAAAGGAATGGAATTTCACCCTGACCCAGCAGGGTCGGAAAAGGAAATGAGGCTCCTACACCTCGTCCTGAGGAATGTGCCGGGGGAAGGGGGCTCCGGAGGAGGGAAGGAGGACAGAAGGGGAGACTGTTTGGAAGTTTGTGTCTCCATCTTGTCGCGCTCACTTCCTGTTTTCTTGGAGATCAAAGATGGGCGCGGAGAGACTGGCTTCATGTCCAGCCAAGGCCGGCTCA
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Task1_train_13243
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Here is a variant affecting ENG (endoglin) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Cardiovascular phenotype
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CATGCAAGGTACAGTTTTAGGAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGA
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CATGCAAGGTACAGTTTTAGGAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCGGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGA
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Task1_train_13244
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Here is a genetic alteration in ENG (endoglin) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Hereditary hemorrhagic telangiectasia
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CATGCAAGGTACAGTTTTAGGAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGA
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CATGCAAGGTACAGTTTTAGGAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCGGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGA
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Task1_train_13245
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Consider this mutation in ENG (endoglin) on Chromosome 9. Is this a benign change or a disease-causing variant?
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Pathogenic; Cardiovascular phenotype
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GAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTT
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GAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCAATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTT
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Task1_train_13246
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A genomic change on Chromosome 9 affects ENG (endoglin). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 1
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AGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTC
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AGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCCTGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTC
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Task1_train_13247
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A change on Chromosome 9 affects gene ENG (endoglin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Cardiovascular phenotype
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AGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTC
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AGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCGTGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTC
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Task1_train_13248
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This mutation is located in gene ENG (endoglin) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 1
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AGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTC
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AGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCGTGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTC
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Task1_train_13249
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This gene mutation involves ENG (endoglin) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 1
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GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTCT
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GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCACGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTCT
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Task1_train_13250
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This variant lies on Chromosome 9 and affects the gene ENG (endoglin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Cardiovascular phenotype
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GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTCT
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GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCACGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTCT
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Task1_train_13251
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A change on Chromosome 9 affects gene ENG (endoglin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Hereditary hemorrhagic telangiectasia
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GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTCT
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GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCACGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTCT
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Task1_train_13252
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A mutation on Chromosome 9 affecting ENG (endoglin) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not specified
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GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTCT
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GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCACGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTCT
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Task1_train_13253
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Here is a variant affecting ENG (endoglin) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Hereditary hemorrhagic telangiectasia
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GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCATGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTCT
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GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTTCTAATCGTTTTACACCCCTGACTGTCATCTCTGCTCTCGGTGTGATCTGCGCCTGCAGAGACTCTGGAGAACCAACCGCCAGGTGCTACCGGGCACTGATTCCCAGCTCCAAACTTGGTGAGTTGGTGGCTTGAAGTCAGCCGGGTGGGAGTACTTACGCTGTGAAAATCCACAAACGCTACAAATTGAGCTCCCCACCCCGTTGTTAATTATTCAGCAGCATATCACTGCCTTTGATCCTTTAAAACCAGGCCCTAAATGTCTGCATGGACCTTTCTCTAACGACCAAGAGGAAGAGAGTGTTACTGCAGCGACAAATACGAGAGAGGGAGATCTTGGAGCTCAGGTAGGGGCTCCGTCTTAGCCATGTGAACTTGGCAGGTTAGAGCCTCCCTTTTCTCTTCTGTAAAATGGGGATGATGATGGCAGCCATCTTGCAGGGTCGTTGTGAGCCGCATTAAGAGGGTTCGCCCTATCACACCTTACTAGGAGCAAACATTTAGGGAGCCGCAGGCCGGGAGTCAAATCCCTGCTAAGTCACTTAATATGTCTGAGACTCAGTTTCCTGTCAATCAGGTGGTGGGCAGAGCTTTAGAGACCCAGAATCAGGGACTCTAAAATGCCATCAGGTGGGGAGGTGGGGAGAAGTTGGCTGCCCCACCGCTGTTTTCCTTCCCCTTCCTCCCCACACTCTCAGCTCATTTCTGCCCCTCTTCCCCCAAATCTGTCAGGAAGCCCCTGGATGCACAGGTGGGTCAAAGGATGTCCACAGGACCGGCCAGCGGCTTGAGGTGGCCGAGGGATAGGGAGTGGGACATGGGGCTGGGGGTCCCTTGCTCCTCACCGCCCCTCCTCTGGTCAGTTTCAGAAAGCAGCAGAGGCCATGACCCCTTGGAAGAGCCCCCAGGCCAAGGAGCCCCACAGAACCCCTAACCTGGCCTGCACCCACTCCTGCACCCTTTCTGGGGATCAGGGAGGTAGGAGGGAGGCAGGGCAGGGCCCTGCAGCCTTGGCCTGTTCAAAGGGTTTGAGGAGCTGCCCAAAGGCCCTGGGGAAGGTGAGCTGGAGGAACTTAAAGCTAAAAATAAAACAACACAGAAGTGGCCAGTCTGCCAGAGCCCTCTCTGCAATGATCCCTCACCACCCACCTCCTCAGCAGCTCTGAGAGGGAAGTCTGTTCTCTTCCCCACTTCGCTCAGAGGCCCGAAGGCAGTCCCCCAGGATCACACCACAAGGAAGTGCCTATGTGAGATTTGAACCCAGAGACGGTGCTCAGAGCCCAGGCTGTGGGCCCTCCTTCCCATCCATTCCTCATGGGGAAACTCAAGGCCCAGAGAGGCCAGGAAACTCTCCCGTCGCTGCACAGCATTCTGGGACCTAGGCTTCCCGGGGAGTAATGGAACGCAGCTGGGTGAGCAGACGCCAGAGACCAGGGTTAAAGTGAAAGAGTCAGCCCAGTTTGCCCGAGGCTTTCTTTCAACACTGAAAGTCCTGCATAACCATTTAGTTCCAGCAAACTGGGAGGGTTGGTGACCCTCCAGAGCCCCAAGGATGGCTCTGCTGGGCGTGAGCTCAGGATACAGGAAGGAGGCCGGGAATACTTGGGGCCTGGTCCGTGCACCGGAGGCCGAGTCTCCCCACCCTGGGTCCCTGGACACCTACTTGTGGGGCTGAGGCTGCAGCTGGCCAGCAGCAGGGCAACAGCCAGAGGGAGCGTGCCGCGGTCCAGGCTGTCCACGTGGGGGCCTGTGCGCTGGGCCTTATCCTGTGTCCAGTGGCAGGGCTGCGGGCGGGCACCGGGGCCGGCGTGGGCTCGCACGGGGACCCGAGGGGAGCAGGCGGCCGGAGCGACGGCGTCCCTGCTCCAGCCTTCTGGGGTGGCGGCCGAGGGGTCAGGAGAAGTGGACACAGGGACGCGGGGCTGGGCTGGAGTTGCTGTCCGAAGGATGGGCGGGGAGGGGGTGCTGGGCTCCAATGGATGGCAGTGACAGCAGCAGTCCTGGCCCCAGGGCGCAGATGAAGGCTGTGGTATGACCGGCAGCAGGGAGCTCCTGGCTCATCCAGCCCGGCCGGCCCAGGGAGGCAGGAAATGCGCTTCCTTAGAGAAGGGGCTGGGCCAGGCCGCCTGCCAACCGGGTAGAGGAAGTGCCACGGGCTTTGTCACTGGGTGGGGGGCCCTGGGATGGGGGGAGGCAGTGGGGTGGGAGGGCCCAGGCTCTAGGCTTGTCTCCCCAAGCACCCCACCCTCCCATCCCACCCTCTCCAAGGCTGGTGGGTGGGACGCATCAGGGAGCCCCACAGATGAAAACAATCACCCTAACAGCCCACCGAGGGGAACTTTCAGGGGGCCGGTCTTGGCTAAAGTAGTTCCTGTAGAATTTGTGACCCACCTGAGCTCACTGATCCCATTTTGCAGATGAGGAAACAGAAATCCGATGTGTTGAGATCACTGGTTCAAGAAGATGGTAGCGCTGGGATCCTGCCCACCTCCACCACTTCACGTCTTGTCGGGCATCAAACCCGGCCTACTAAGTGCAGTTGACATGGGGCTGCCTAACAGGCAGGAAAACTGAAGCTCAGGCTAGGGAGGGAAGTCCCAAAGTGGCACAGCAAGGCGGCTAGGGCTGGCGTCTCTGGGCTCAGAGGAGCTGCCCAGGGCCACACACTTCACGTCTGACCCCTTCATGGGTGGAAAATCCTTCACCGACAAAACACAGCTCCAGGCCGAGTGTAGTGGCTCAAGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGACGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCATGATGACGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCTAGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCTGAGATCAGACCACTGCACTCCTGGCCTAGGTGACAGAGTGAGGCTCGGTCTCAAAAAAAAGAAAAGAAAAAAAAAAAGAAGACAGCTCCAAATTATGGGGACTTTAATGGCACTTCTGAAGTCACGTGGCCCTGGGTTCAAATCCGATTCTGCTTGCTCCTAGCCATGAGACCTTGGACAAGGCCCCTCAATTCTCAGCACCCCCTGTTTGCAAAGTGGGGCACGATGCCTTCCTGACCAAGCCATTATGAGATTTCTGAGGGTCAGGACACTACAGCACTGAGCCCTGGGACATACAGGAGATGCTTCCCCATCAGTGCTCCCTGAGCTGGGTGACAGTCCCCAAACTGTCCCATGTTCATTCTGCAAACAGTAAGCGCACCTACTATGTACCCACCGTGGGACTACTCACAGGTAGCACCCAGGGCCAGGCCCATGAAAGCTCAGAGAAGGAATCCTGGGCCACCTGGAGGGCCTGGTATTTAGGCCTGCCCTTTGAAAGACTGGGTGAGTTGGGATTGGGGAGAAGAAGGGGTGAGGAAAGCATGCCAGGCAGGGGTGCCAGACTAAGCAAAGGCACAGAAGCAGGAAACAGTCGGACCACCGTGAGACCAGCAGGGGTGTGGTGGGGACAGGAAGCTGGAGAGGCAGAGTCTGGCCCTGCATTGGGAGGGCCTCAAATGCCAGGACTTTGTCCTTAGGGCCACTGGGAGTCATGGAGAGTTCTTGAGCAGAAGGACGCTGGCAGAGCTAGGCTTTGAGAGGCCAAATCTTTGTGTGTGCTGGCAGGACCCACGGTGAGATGGAGCCAGAAGGTTCTTCT
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Task1_train_13254
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A genomic change on Chromosome 9 affects AK1, ST6GALNAC4-ST6GALNAC6-AK1 (adenylate kinase 1| ST6GALNAC4-ST6GALNAC6-AK1 readthrough). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Hemolytic anemia due to adenylate kinase deficiency
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GTCCCTGCGTGCCCCATCAGTTTTCTGCCGATGCGGAAAACCGAGGACCAGCTGCAGAGGCCTCCACACAGCCCCTACCCTCCACAACTTCCCTGGGACAGAATGGCTCCCCCTACATGCCTTGTCTTCTGCTAGCTCCGCTGAACTCCTGTTTATTTCTTTCATGTTCTTCTTTCAATAGATTCACCTTTTATAACTTAAAATCGTTTATTTTAAAGGAAACTTTAAATAACCAATGGAAATGAAAAACCAGCCCCACTTGCCATGAACAGCCCCAACTGTTCGGATTTCATTCGGGCAGGCGGGGTCCACAAGAGGCTCTCTTGGCTTAAAGGGAGCCCAGCTTGGGCCAGATCAGGTGTTAAGGACACGTGAGCACCAAATTGAGCCTTTCTCAGTGATGAGGTCAAAAAATGAAAGCGCGCAGGAAGGGTTCTCCCCAGGGGATTCTGGGGTGTCCCCAAGTCATCCGGGGCCCCGCACGCTTCGGGCCATGCTGTTCTGGTCTCCAGCCCTCATGGCCGTGGCAATGGACAGCGTCCACTCCTCACTCAGTGTGTTCTCATCCTGACCTTGAGGTGGGGGTGAGGGGGACATTGAGTCTGTTTTAGAATTGGAAACGGCTCACAGAGGGTGGGCTGTGTCCAGGGCCACACAGGGGGAGGTCCTTCAGGTCTCACCCCTGACCATGACTCCCCCAATTCAATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCATTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCATGAGTAGCTGGGAATACAGGCACATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAAATAAGGGGTTTTGCCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAGGGGATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCATTGGGCCTCCCCCATTCAATTTCAGTGACATGACTGACTCCCCACCCACCCATGCCATTGAGATGCCCTTTTCAGACCCTCAGAGCCTCTCGCGTCAAGGAAGCCAATTCACTACCCACTGGGCCAGCTGGCGTGGGCCGCCCCAACTGCCCAGGAAGCCCCACTCAGACCATGACCTTGCTGCCTGTGCAGTCCAGGCCCCGGCAAGGGCCAGGCATGGAACATATGCTCAGAGCGATGGGGGTCAGGGCCAAGGCCACAGAGCAAGATGCAGAGGAGCCCAGGCTGGGACCGGTTCTGCCTGAACATGAGCCCCTCGGAGCAGGGGCCCCGCCACTCAGCGCCGGGTCCTCAGGCCAGGCATGCCCTGTGCGAGGAAGGGCCCCGGGCCTCCCACCAGAGCTAGAGGAGGGGTGGCTGGCAAAGGGAGGCTGAGGAGGAACGGAGGGTTGAGGGGCTGGGGACTTGCGGCCAGGTAGGCACAAGCACATGAATCAACTCCAACTGGAAGCAGAGAAAAAGCAGTAAAACCAAATGTCCTTAGAAATTCCTTTAGTGCTCAGCTGTCCATGAAAACAGGATAAGCGGCTTCCTCCGTCTGTGCTCAGCAGGGCAGGGTGGAGGCGCTGCGCTCAGGCCAGGAGGACCTCGAATCAGGACGGGGTGGGGCGGGGCTCTGAGCTGGGGAAGCGGCTCCAGCGTTGCTACTTTAGGGCGTCCAGGTGGGTGCAGACCTGGGAGAAGACACTGTCCACGGAGCCCTCAGCGTTGACCTGTGGGGAGATGGGCCGTGAGGGCTGAGTCACCAGGTGGAGTGGGGTGGGCCTCACCATGGCAGGCCCCAGAGACCAGGCCTGCCTCCCCGAGCCCAACCTAATTGACAGCAGCCCCTCATTGAACCAGTGGGGAAACCAAGGCCCAGAGAGAGGGGCTGGCCTGAGGCCACACAGTGAGCTGAGGCGGAGCCACATAGGAACCCGTTCTTCCCGGAGCTGCCCCTGGGCCCGCGGGGCCCACCTTGCGCACAATGCCACGTTTCTCATAGAAGGCGATGACAGGTTCTGTGGCCTTGTAATAGGTCTCCAGCCGCTTTTTGATGGTCTCCTCATTGTCGTCCACACGCCCGCTGGTCTCTCCACGTTTCAAGAGCCGCTGGGTCATGGTCTCAGGGCCTGCGTCCACATACAGCAGCAGTGTGGGCTGTCCAATCTGCAGGCGGGCACCATGTCACAGGGACCCCATTCCTGCCCCCTAGGGCCATCTCCTCCCCATCTTCCCATCTATGAAGCCCCAGTAGATACCCCCTCAGACCTTCAATCCCTTCCCCAAGGCAGCCTGAAAGACCTTCCTAAAACCAATCTTTCCTGCCACTCCCCTGCTCAAACCTACACCATGGCTCCCCAGTGCCCTCAGGAGAAAGTCCACACTACTTGCCAGACTGAGAGAGCCTGACTCTCTCTGCTCTAGGCTCTCATCAACCTCCTTCCATGCCAGACCTGTGCTCATGCTGTTCCCTCTGCTAGGAGCCCTCTCCCCCGAGCCTGATCCTAACTCGCCTTCACCTCAATACCAAGCATCAGGTTTCAGTGCGAAGCTCACTTCCTCAGGGCAGTCTCTCTGATGCCACCCCCCGCCCCCCAGTACTCCCCGCCTCCTGGAACAGGCTCTTCCAGCGCCTTTATCTTTCCTTAAGCAGGTCTCCCAAGGGCCCCTGAGGGCAGGGAGGCACTTGTCTCACAATTCTGGGGTCCTTTGACAAAGGAACAAGGGATGAGGGAAGGGGTGAGGGGCTGCTGAGTCCTGGGGGGTTCTGAGCAATGTCCGTGTCATTGGAACAGCATGTCATCCATGTCATCCATGGGACGCCTTGGAAAGGCAAGAGGAATAAGGTTCTGCAGCCCCTGCCTCGCTCAATCCAGCTACCACAGCTGCCTGGTTGGGAGGGCAGAGCCACCCCAGAGTCACCCATGACTGCCACAGCTTTAGGAATGGGATTGGGACCTTCAAACCCTGTCTCCTGCTTCCAACTGCCTGGGCCAGCCCCCAAGGGTTTCTGCGCAGCTTTGGCCCTGGACCCCTGTCAAGGCCTTGGGGCACTGCCTCTCAGGTCAGGCTGTTTCGTGCCTCTGTCCAGCTGTGTAACCAAGAGGCTTGTCCAAGGCCACACAGCTGGACAGAGGCGAGAAGCAGCCTGACCTCCGGCGTCAGACTGACCTGGACCCAGGCTCACCCCTGCCTCTGTTCAGCTGTGTGACCTGGGGCAAGCCCTTTGTCCTCGCCTGCGATACCCATCCTAGCGCTCATCCCTAGCTCCTCCGTAGTTAAGGATTCAGGGTGACAGCGTCAGCTGCCTTCAGGGAGATGACTCCGTACCACCCAGCGGCTGCTTCTACCTTACAGATTACCATGGGGGCAAAGGCTGGGCCTGGATGCAGCAGTCTGACCTCAACTTCAAGGTCACCCACCCCCCATCATCATCCATCAGCTGCTGAGCTCCTCCAGGGCACAGACTCACAGTCTCTGGTTCATCTGGGTCTCCAGGACCAAGCACAGTAGGCTCTTTACACACACCCAGCAGAGGTGGTAAATCTGGGAGAGCCAGCTCAGCCTCTGGGCTTGAGATTCTGGCTGTGGGGCCTCAGTCTCCCTGTCAGGACAATGGACATCTAGCCCGGGGAGTCCACAACGGGCACTGCCAGTCTCCAGAAAAGCTTTGGGTGTGAGCCGGCCACACTTCCAGGCTGACCCTCCCTCCTTCGGTGAAGCCCTGGCGCCCCCTGGTGTCCAGAGCCAAGAAGACCAGCTGCCCGGACACCTGGAGGCCACAGCAGGGATGGGACCAGGGCTGAGCCTGCGGCCCTCAGCGGCACCTACAACAGCCCTGGAAGGGTGGGGACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTTGTTCAGGCTTGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGTCCAGCCAGGTTCAAATGATTCTCGTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTACATGAGT
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GTCCCTGCGTGCCCCATCAGTTTTCTGCCGATGCGGAAAACCGAGGACCAGCTGCAGAGGCCTCCACACAGCCCCTACCCTCCACAACTTCCCTGGGACAGAATGGCTCCCCCTACATGCCTTGTCTTCTGCTAGCTCCGCTGAACTCCTGTTTATTTCTTTCATGTTCTTCTTTCAATAGATTCACCTTTTATAACTTAAAATCGTTTATTTTAAAGGAAACTTTAAATAACCAATGGAAATGAAAAACCAGCCCCACTTGCCATGAACAGCCCCAACTGTTCGGATTTCATTCGGGCAGGCGGGGTCCACAAGAGGCTCTCTTGGCTTAAAGGGAGCCCAGCTTGGGCCAGATCAGGTGTTAAGGACACGTGAGCACCAAATTGAGCCTTTCTCAGTGATGAGGTCAAAAAATGAAAGCGCGCAGGAAGGGTTCTCCCCAGGGGATTCTGGGGTGTCCCCAAGTCATCCGGGGCCCCGCACGCTTCGGGCCATGCTGTTCTGGTCTCCAGCCCTCATGGCCGTGGCAATGGACAGCGTCCACTCCTCACTCAGTGTGTTCTCATCCTGACCTTGAGGTGGGGGTGAGGGGGACATTGAGTCTGTTTTAGAATTGGAAACGGCTCACAGAGGGTGGGCTGTGTCCAGGGCCACACAGGGGGAGGTCCTTCAGGTCTCACCCCTGACCATGACTCCCCCAATTCAATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCATTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCATGAGTAGCTGGGAATACAGGCACATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAAATAAGGGGTTTTGCCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAGGGGATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCATTGGGCCTCCCCCATTCAATTTCAGTGACATGACTGACTCCCCACCCACCCATGCCATTGAGATGCCCTTTTCAGACCCTCAGAGCCTCTCGCGTCAAGGAAGCCAATTCACTACCCACTGGGCCAGCTGGCGTGGGCCGCCCCAACTGCCCAGGAAGCCCCACTCAGACCATGACCTTGCTGCCTGTGCAGTCCAGGCCCCGGCAAGGGCCAGGCATGGAACATATGCTCAGAGCGATGGGGGTCAGGGCCAAGGCCACAGAGCAAGATGCAGAGGAGCCCAGGCTGGGACCGGTTCTGCCTGAACATGAGCCCCTCGGAGCAGGGGCCCCGCCACTCAGCGCCGGGTCCTCAGGCCAGGCATGCCCTGTGCGAGGAAGGGCCCCGGGCCTCCCACCAGAGCTAGAGGAGGGGTGGCTGGCAAAGGGAGGCTGAGGAGGAACGGAGGGTTGAGGGGCTGGGGACTTGCGGCCAGGTAGGCACAAGCACATGAATCAACTCCAACTGGAAGCAGAGAAAAAGCAGTAAAACCAAATGTCCTTAGAAATTCCTTTAGTGCTCAGCTGTCCATGAAAACAGGATAAGCGGCTTCCTCCGTCTGTGCTCAGCAGGGCAGGGTGGAGGCGCTGCGCTCAGGCCAGGAGGACCTCGAATCAGGACGGGGTGGGGCGGGGCTCTGAGCTGGGGAAGCGGCTCCAGCGTTGCTACTTTAGGGCGTCCAGGTGGGTGCAGACCTGGGAGAAGACACTGTCCACGGAGCCCTCAGCGTTGACCTGTGGGGAGATGGGCCGTGAGGGCTGAGTCACCAGGTGGAGTGGGGTGGGCCTCACCATGGCAGGCCCCAGAGACCAGGCCTGCCTCCCCGAGCCCAACCTAATTGACAGCAGCCCCTCATTGAACCAGTGGGGAAACCAAGGCCCAGAGAGAGGGGCTGGCCTGAGGCCACACAGTGAGCTGAGGCGGAGCCACATAGGAACCCGTTCTTCCCGGAGCTGCCCCTGGGCCCGCGGGGCCCACCTTGCGCACAATGCCACGTTTCTCACAGAAGGCGATGACAGGTTCTGTGGCCTTGTAATAGGTCTCCAGCCGCTTTTTGATGGTCTCCTCATTGTCGTCCACACGCCCGCTGGTCTCTCCACGTTTCAAGAGCCGCTGGGTCATGGTCTCAGGGCCTGCGTCCACATACAGCAGCAGTGTGGGCTGTCCAATCTGCAGGCGGGCACCATGTCACAGGGACCCCATTCCTGCCCCCTAGGGCCATCTCCTCCCCATCTTCCCATCTATGAAGCCCCAGTAGATACCCCCTCAGACCTTCAATCCCTTCCCCAAGGCAGCCTGAAAGACCTTCCTAAAACCAATCTTTCCTGCCACTCCCCTGCTCAAACCTACACCATGGCTCCCCAGTGCCCTCAGGAGAAAGTCCACACTACTTGCCAGACTGAGAGAGCCTGACTCTCTCTGCTCTAGGCTCTCATCAACCTCCTTCCATGCCAGACCTGTGCTCATGCTGTTCCCTCTGCTAGGAGCCCTCTCCCCCGAGCCTGATCCTAACTCGCCTTCACCTCAATACCAAGCATCAGGTTTCAGTGCGAAGCTCACTTCCTCAGGGCAGTCTCTCTGATGCCACCCCCCGCCCCCCAGTACTCCCCGCCTCCTGGAACAGGCTCTTCCAGCGCCTTTATCTTTCCTTAAGCAGGTCTCCCAAGGGCCCCTGAGGGCAGGGAGGCACTTGTCTCACAATTCTGGGGTCCTTTGACAAAGGAACAAGGGATGAGGGAAGGGGTGAGGGGCTGCTGAGTCCTGGGGGGTTCTGAGCAATGTCCGTGTCATTGGAACAGCATGTCATCCATGTCATCCATGGGACGCCTTGGAAAGGCAAGAGGAATAAGGTTCTGCAGCCCCTGCCTCGCTCAATCCAGCTACCACAGCTGCCTGGTTGGGAGGGCAGAGCCACCCCAGAGTCACCCATGACTGCCACAGCTTTAGGAATGGGATTGGGACCTTCAAACCCTGTCTCCTGCTTCCAACTGCCTGGGCCAGCCCCCAAGGGTTTCTGCGCAGCTTTGGCCCTGGACCCCTGTCAAGGCCTTGGGGCACTGCCTCTCAGGTCAGGCTGTTTCGTGCCTCTGTCCAGCTGTGTAACCAAGAGGCTTGTCCAAGGCCACACAGCTGGACAGAGGCGAGAAGCAGCCTGACCTCCGGCGTCAGACTGACCTGGACCCAGGCTCACCCCTGCCTCTGTTCAGCTGTGTGACCTGGGGCAAGCCCTTTGTCCTCGCCTGCGATACCCATCCTAGCGCTCATCCCTAGCTCCTCCGTAGTTAAGGATTCAGGGTGACAGCGTCAGCTGCCTTCAGGGAGATGACTCCGTACCACCCAGCGGCTGCTTCTACCTTACAGATTACCATGGGGGCAAAGGCTGGGCCTGGATGCAGCAGTCTGACCTCAACTTCAAGGTCACCCACCCCCCATCATCATCCATCAGCTGCTGAGCTCCTCCAGGGCACAGACTCACAGTCTCTGGTTCATCTGGGTCTCCAGGACCAAGCACAGTAGGCTCTTTACACACACCCAGCAGAGGTGGTAAATCTGGGAGAGCCAGCTCAGCCTCTGGGCTTGAGATTCTGGCTGTGGGGCCTCAGTCTCCCTGTCAGGACAATGGACATCTAGCCCGGGGAGTCCACAACGGGCACTGCCAGTCTCCAGAAAAGCTTTGGGTGTGAGCCGGCCACACTTCCAGGCTGACCCTCCCTCCTTCGGTGAAGCCCTGGCGCCCCCTGGTGTCCAGAGCCAAGAAGACCAGCTGCCCGGACACCTGGAGGCCACAGCAGGGATGGGACCAGGGCTGAGCCTGCGGCCCTCAGCGGCACCTACAACAGCCCTGGAAGGGTGGGGACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTTGTTCAGGCTTGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGTCCAGCCAGGTTCAAATGATTCTCGTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTACATGAGT
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Task1_train_13255
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A variant affecting Chromosome 9, within the gene ST6GALNAC4-ST6GALNAC6-AK1, AK1 (ST6GALNAC4-ST6GALNAC6-AK1 readthrough| adenylate kinase 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Hemolytic anemia due to adenylate kinase deficiency
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CCCCTACATGCCTTGTCTTCTGCTAGCTCCGCTGAACTCCTGTTTATTTCTTTCATGTTCTTCTTTCAATAGATTCACCTTTTATAACTTAAAATCGTTTATTTTAAAGGAAACTTTAAATAACCAATGGAAATGAAAAACCAGCCCCACTTGCCATGAACAGCCCCAACTGTTCGGATTTCATTCGGGCAGGCGGGGTCCACAAGAGGCTCTCTTGGCTTAAAGGGAGCCCAGCTTGGGCCAGATCAGGTGTTAAGGACACGTGAGCACCAAATTGAGCCTTTCTCAGTGATGAGGTCAAAAAATGAAAGCGCGCAGGAAGGGTTCTCCCCAGGGGATTCTGGGGTGTCCCCAAGTCATCCGGGGCCCCGCACGCTTCGGGCCATGCTGTTCTGGTCTCCAGCCCTCATGGCCGTGGCAATGGACAGCGTCCACTCCTCACTCAGTGTGTTCTCATCCTGACCTTGAGGTGGGGGTGAGGGGGACATTGAGTCTGTTTTAGAATTGGAAACGGCTCACAGAGGGTGGGCTGTGTCCAGGGCCACACAGGGGGAGGTCCTTCAGGTCTCACCCCTGACCATGACTCCCCCAATTCAATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCATTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCATGAGTAGCTGGGAATACAGGCACATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAAATAAGGGGTTTTGCCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAGGGGATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCATTGGGCCTCCCCCATTCAATTTCAGTGACATGACTGACTCCCCACCCACCCATGCCATTGAGATGCCCTTTTCAGACCCTCAGAGCCTCTCGCGTCAAGGAAGCCAATTCACTACCCACTGGGCCAGCTGGCGTGGGCCGCCCCAACTGCCCAGGAAGCCCCACTCAGACCATGACCTTGCTGCCTGTGCAGTCCAGGCCCCGGCAAGGGCCAGGCATGGAACATATGCTCAGAGCGATGGGGGTCAGGGCCAAGGCCACAGAGCAAGATGCAGAGGAGCCCAGGCTGGGACCGGTTCTGCCTGAACATGAGCCCCTCGGAGCAGGGGCCCCGCCACTCAGCGCCGGGTCCTCAGGCCAGGCATGCCCTGTGCGAGGAAGGGCCCCGGGCCTCCCACCAGAGCTAGAGGAGGGGTGGCTGGCAAAGGGAGGCTGAGGAGGAACGGAGGGTTGAGGGGCTGGGGACTTGCGGCCAGGTAGGCACAAGCACATGAATCAACTCCAACTGGAAGCAGAGAAAAAGCAGTAAAACCAAATGTCCTTAGAAATTCCTTTAGTGCTCAGCTGTCCATGAAAACAGGATAAGCGGCTTCCTCCGTCTGTGCTCAGCAGGGCAGGGTGGAGGCGCTGCGCTCAGGCCAGGAGGACCTCGAATCAGGACGGGGTGGGGCGGGGCTCTGAGCTGGGGAAGCGGCTCCAGCGTTGCTACTTTAGGGCGTCCAGGTGGGTGCAGACCTGGGAGAAGACACTGTCCACGGAGCCCTCAGCGTTGACCTGTGGGGAGATGGGCCGTGAGGGCTGAGTCACCAGGTGGAGTGGGGTGGGCCTCACCATGGCAGGCCCCAGAGACCAGGCCTGCCTCCCCGAGCCCAACCTAATTGACAGCAGCCCCTCATTGAACCAGTGGGGAAACCAAGGCCCAGAGAGAGGGGCTGGCCTGAGGCCACACAGTGAGCTGAGGCGGAGCCACATAGGAACCCGTTCTTCCCGGAGCTGCCCCTGGGCCCGCGGGGCCCACCTTGCGCACAATGCCACGTTTCTCATAGAAGGCGATGACAGGTTCTGTGGCCTTGTAATAGGTCTCCAGCCGCTTTTTGATGGTCTCCTCATTGTCGTCCACACGCCCGCTGGTCTCTCCACGTTTCAAGAGCCGCTGGGTCATGGTCTCAGGGCCTGCGTCCACATACAGCAGCAGTGTGGGCTGTCCAATCTGCAGGCGGGCACCATGTCACAGGGACCCCATTCCTGCCCCCTAGGGCCATCTCCTCCCCATCTTCCCATCTATGAAGCCCCAGTAGATACCCCCTCAGACCTTCAATCCCTTCCCCAAGGCAGCCTGAAAGACCTTCCTAAAACCAATCTTTCCTGCCACTCCCCTGCTCAAACCTACACCATGGCTCCCCAGTGCCCTCAGGAGAAAGTCCACACTACTTGCCAGACTGAGAGAGCCTGACTCTCTCTGCTCTAGGCTCTCATCAACCTCCTTCCATGCCAGACCTGTGCTCATGCTGTTCCCTCTGCTAGGAGCCCTCTCCCCCGAGCCTGATCCTAACTCGCCTTCACCTCAATACCAAGCATCAGGTTTCAGTGCGAAGCTCACTTCCTCAGGGCAGTCTCTCTGATGCCACCCCCCGCCCCCCAGTACTCCCCGCCTCCTGGAACAGGCTCTTCCAGCGCCTTTATCTTTCCTTAAGCAGGTCTCCCAAGGGCCCCTGAGGGCAGGGAGGCACTTGTCTCACAATTCTGGGGTCCTTTGACAAAGGAACAAGGGATGAGGGAAGGGGTGAGGGGCTGCTGAGTCCTGGGGGGTTCTGAGCAATGTCCGTGTCATTGGAACAGCATGTCATCCATGTCATCCATGGGACGCCTTGGAAAGGCAAGAGGAATAAGGTTCTGCAGCCCCTGCCTCGCTCAATCCAGCTACCACAGCTGCCTGGTTGGGAGGGCAGAGCCACCCCAGAGTCACCCATGACTGCCACAGCTTTAGGAATGGGATTGGGACCTTCAAACCCTGTCTCCTGCTTCCAACTGCCTGGGCCAGCCCCCAAGGGTTTCTGCGCAGCTTTGGCCCTGGACCCCTGTCAAGGCCTTGGGGCACTGCCTCTCAGGTCAGGCTGTTTCGTGCCTCTGTCCAGCTGTGTAACCAAGAGGCTTGTCCAAGGCCACACAGCTGGACAGAGGCGAGAAGCAGCCTGACCTCCGGCGTCAGACTGACCTGGACCCAGGCTCACCCCTGCCTCTGTTCAGCTGTGTGACCTGGGGCAAGCCCTTTGTCCTCGCCTGCGATACCCATCCTAGCGCTCATCCCTAGCTCCTCCGTAGTTAAGGATTCAGGGTGACAGCGTCAGCTGCCTTCAGGGAGATGACTCCGTACCACCCAGCGGCTGCTTCTACCTTACAGATTACCATGGGGGCAAAGGCTGGGCCTGGATGCAGCAGTCTGACCTCAACTTCAAGGTCACCCACCCCCCATCATCATCCATCAGCTGCTGAGCTCCTCCAGGGCACAGACTCACAGTCTCTGGTTCATCTGGGTCTCCAGGACCAAGCACAGTAGGCTCTTTACACACACCCAGCAGAGGTGGTAAATCTGGGAGAGCCAGCTCAGCCTCTGGGCTTGAGATTCTGGCTGTGGGGCCTCAGTCTCCCTGTCAGGACAATGGACATCTAGCCCGGGGAGTCCACAACGGGCACTGCCAGTCTCCAGAAAAGCTTTGGGTGTGAGCCGGCCACACTTCCAGGCTGACCCTCCCTCCTTCGGTGAAGCCCTGGCGCCCCCTGGTGTCCAGAGCCAAGAAGACCAGCTGCCCGGACACCTGGAGGCCACAGCAGGGATGGGACCAGGGCTGAGCCTGCGGCCCTCAGCGGCACCTACAACAGCCCTGGAAGGGTGGGGACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTTGTTCAGGCTTGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGTCCAGCCAGGTTCAAATGATTCTCGTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTACATGAGTTTTCACCATGTTGGCCAGGCTGGTTTTGACCCTGACCTCAAGTGATCTGCCCTCTTTGGCCTCCCAAAGTGCTAGGATCTCAGGCGTGAGCCACTGCACCCGGCCGACT
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CCCCTACATGCCTTGTCTTCTGCTAGCTCCGCTGAACTCCTGTTTATTTCTTTCATGTTCTTCTTTCAATAGATTCACCTTTTATAACTTAAAATCGTTTATTTTAAAGGAAACTTTAAATAACCAATGGAAATGAAAAACCAGCCCCACTTGCCATGAACAGCCCCAACTGTTCGGATTTCATTCGGGCAGGCGGGGTCCACAAGAGGCTCTCTTGGCTTAAAGGGAGCCCAGCTTGGGCCAGATCAGGTGTTAAGGACACGTGAGCACCAAATTGAGCCTTTCTCAGTGATGAGGTCAAAAAATGAAAGCGCGCAGGAAGGGTTCTCCCCAGGGGATTCTGGGGTGTCCCCAAGTCATCCGGGGCCCCGCACGCTTCGGGCCATGCTGTTCTGGTCTCCAGCCCTCATGGCCGTGGCAATGGACAGCGTCCACTCCTCACTCAGTGTGTTCTCATCCTGACCTTGAGGTGGGGGTGAGGGGGACATTGAGTCTGTTTTAGAATTGGAAACGGCTCACAGAGGGTGGGCTGTGTCCAGGGCCACACAGGGGGAGGTCCTTCAGGTCTCACCCCTGACCATGACTCCCCCAATTCAATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCATTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCATGAGTAGCTGGGAATACAGGCACATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAAATAAGGGGTTTTGCCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAGGGGATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCATTGGGCCTCCCCCATTCAATTTCAGTGACATGACTGACTCCCCACCCACCCATGCCATTGAGATGCCCTTTTCAGACCCTCAGAGCCTCTCGCGTCAAGGAAGCCAATTCACTACCCACTGGGCCAGCTGGCGTGGGCCGCCCCAACTGCCCAGGAAGCCCCACTCAGACCATGACCTTGCTGCCTGTGCAGTCCAGGCCCCGGCAAGGGCCAGGCATGGAACATATGCTCAGAGCGATGGGGGTCAGGGCCAAGGCCACAGAGCAAGATGCAGAGGAGCCCAGGCTGGGACCGGTTCTGCCTGAACATGAGCCCCTCGGAGCAGGGGCCCCGCCACTCAGCGCCGGGTCCTCAGGCCAGGCATGCCCTGTGCGAGGAAGGGCCCCGGGCCTCCCACCAGAGCTAGAGGAGGGGTGGCTGGCAAAGGGAGGCTGAGGAGGAACGGAGGGTTGAGGGGCTGGGGACTTGCGGCCAGGTAGGCACAAGCACATGAATCAACTCCAACTGGAAGCAGAGAAAAAGCAGTAAAACCAAATGTCCTTAGAAATTCCTTTAGTGCTCAGCTGTCCATGAAAACAGGATAAGCGGCTTCCTCCGTCTGTGCTCAGCAGGGCAGGGTGGAGGCGCTGCGCTCAGGCCAGGAGGACCTCGAATCAGGACGGGGTGGGGCGGGGCTCTGAGCTGGGGAAGCGGCTCCAGCGTTGCTACTTTAGGGCGTCCAGGTGGGTGCAGACCTGGGAGAAGACACTGTCCACGGAGCCCTCAGCGTTGACCTGTGGGGAGATGGGCCGTGAGGGCTGAGTCACCAGGTGGAGTGGGGTGGGCCTCACCATGGCAGGCCCCAGAGACCAGGCCTGCCTCCCCGAGCCCAACCTAATTGACAGCAGCCCCTCATTGAACCAGTGGGGAAACCAAGGCCCAGAGAGAGGGGCTGGCCTGAGGCCACACAGTGAGCTGAGGCGGAGCCACATAGGAACCCGTTCTTCCCGGAGCTGCCCCTGGGCCCGCGGGGCCCACCTTGCGCACAATGCCACGTTTCTCATAGAAGGCGATGACAGGTTCTGTGGCCTTGTAATAGGTCTCCAGCCGCTTTTTGATGGTCTCCTCATTGTCGTCCACACGCCCGCTGGTCTCTCCACGTTTCAAGAGCCACTGGGTCATGGTCTCAGGGCCTGCGTCCACATACAGCAGCAGTGTGGGCTGTCCAATCTGCAGGCGGGCACCATGTCACAGGGACCCCATTCCTGCCCCCTAGGGCCATCTCCTCCCCATCTTCCCATCTATGAAGCCCCAGTAGATACCCCCTCAGACCTTCAATCCCTTCCCCAAGGCAGCCTGAAAGACCTTCCTAAAACCAATCTTTCCTGCCACTCCCCTGCTCAAACCTACACCATGGCTCCCCAGTGCCCTCAGGAGAAAGTCCACACTACTTGCCAGACTGAGAGAGCCTGACTCTCTCTGCTCTAGGCTCTCATCAACCTCCTTCCATGCCAGACCTGTGCTCATGCTGTTCCCTCTGCTAGGAGCCCTCTCCCCCGAGCCTGATCCTAACTCGCCTTCACCTCAATACCAAGCATCAGGTTTCAGTGCGAAGCTCACTTCCTCAGGGCAGTCTCTCTGATGCCACCCCCCGCCCCCCAGTACTCCCCGCCTCCTGGAACAGGCTCTTCCAGCGCCTTTATCTTTCCTTAAGCAGGTCTCCCAAGGGCCCCTGAGGGCAGGGAGGCACTTGTCTCACAATTCTGGGGTCCTTTGACAAAGGAACAAGGGATGAGGGAAGGGGTGAGGGGCTGCTGAGTCCTGGGGGGTTCTGAGCAATGTCCGTGTCATTGGAACAGCATGTCATCCATGTCATCCATGGGACGCCTTGGAAAGGCAAGAGGAATAAGGTTCTGCAGCCCCTGCCTCGCTCAATCCAGCTACCACAGCTGCCTGGTTGGGAGGGCAGAGCCACCCCAGAGTCACCCATGACTGCCACAGCTTTAGGAATGGGATTGGGACCTTCAAACCCTGTCTCCTGCTTCCAACTGCCTGGGCCAGCCCCCAAGGGTTTCTGCGCAGCTTTGGCCCTGGACCCCTGTCAAGGCCTTGGGGCACTGCCTCTCAGGTCAGGCTGTTTCGTGCCTCTGTCCAGCTGTGTAACCAAGAGGCTTGTCCAAGGCCACACAGCTGGACAGAGGCGAGAAGCAGCCTGACCTCCGGCGTCAGACTGACCTGGACCCAGGCTCACCCCTGCCTCTGTTCAGCTGTGTGACCTGGGGCAAGCCCTTTGTCCTCGCCTGCGATACCCATCCTAGCGCTCATCCCTAGCTCCTCCGTAGTTAAGGATTCAGGGTGACAGCGTCAGCTGCCTTCAGGGAGATGACTCCGTACCACCCAGCGGCTGCTTCTACCTTACAGATTACCATGGGGGCAAAGGCTGGGCCTGGATGCAGCAGTCTGACCTCAACTTCAAGGTCACCCACCCCCCATCATCATCCATCAGCTGCTGAGCTCCTCCAGGGCACAGACTCACAGTCTCTGGTTCATCTGGGTCTCCAGGACCAAGCACAGTAGGCTCTTTACACACACCCAGCAGAGGTGGTAAATCTGGGAGAGCCAGCTCAGCCTCTGGGCTTGAGATTCTGGCTGTGGGGCCTCAGTCTCCCTGTCAGGACAATGGACATCTAGCCCGGGGAGTCCACAACGGGCACTGCCAGTCTCCAGAAAAGCTTTGGGTGTGAGCCGGCCACACTTCCAGGCTGACCCTCCCTCCTTCGGTGAAGCCCTGGCGCCCCCTGGTGTCCAGAGCCAAGAAGACCAGCTGCCCGGACACCTGGAGGCCACAGCAGGGATGGGACCAGGGCTGAGCCTGCGGCCCTCAGCGGCACCTACAACAGCCCTGGAAGGGTGGGGACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTTGTTCAGGCTTGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGTCCAGCCAGGTTCAAATGATTCTCGTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTACATGAGTTTTCACCATGTTGGCCAGGCTGGTTTTGACCCTGACCTCAAGTGATCTGCCCTCTTTGGCCTCCCAAAGTGCTAGGATCTCAGGCGTGAGCCACTGCACCCGGCCGACT
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Task1_train_13256
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This is a variant in AK1, ST6GALNAC4-ST6GALNAC6-AK1 (adenylate kinase 1| ST6GALNAC4-ST6GALNAC6-AK1 readthrough), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; Adenylate kinase deficiency
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TCCTCCAGGGCACAGACTCACAGTCTCTGGTTCATCTGGGTCTCCAGGACCAAGCACAGTAGGCTCTTTACACACACCCAGCAGAGGTGGTAAATCTGGGAGAGCCAGCTCAGCCTCTGGGCTTGAGATTCTGGCTGTGGGGCCTCAGTCTCCCTGTCAGGACAATGGACATCTAGCCCGGGGAGTCCACAACGGGCACTGCCAGTCTCCAGAAAAGCTTTGGGTGTGAGCCGGCCACACTTCCAGGCTGACCCTCCCTCCTTCGGTGAAGCCCTGGCGCCCCCTGGTGTCCAGAGCCAAGAAGACCAGCTGCCCGGACACCTGGAGGCCACAGCAGGGATGGGACCAGGGCTGAGCCTGCGGCCCTCAGCGGCACCTACAACAGCCCTGGAAGGGTGGGGACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTTGTTCAGGCTTGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGTCCAGCCAGGTTCAAATGATTCTCGTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTACATGAGTTTTCACCATGTTGGCCAGGCTGGTTTTGACCCTGACCTCAAGTGATCTGCCCTCTTTGGCCTCCCAAAGTGCTAGGATCTCAGGCGTGAGCCACTGCACCCGGCCGACTTTCATTAACTCTATTTTCTAGATGTGGCCCTGAGGGTCACAGGTGGTACCACACAGCTGGTATGTGTGAGCCAGGCCAGGACATCTTTCAGAACTGTGGCACCTAACACAGGGTCAGGGGTCTGAGGTCTGAAGGAATCCAGCTAACCCCCATTTCAGATAGGGAAGGTGAGGGGCAGAGTGGGGTAGACACTTTCCTGAGGTCTTGCAGCCACTCATGCAGCCACTCAGAGGTCAGAAAATATGGCCTCCTATCCCCAGATGAGGCTGGAAGCTACGGAAGCCCAGAAGGCCCTACGGAGACGGGGCATGGGAATGGGGCATGGGAATGGGGCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATGCTGGTTAGGCTCCCCCTAGCCCTTGCCGACCTCTCCCTCCTAGGCCCTTGCAGTCCCGTTTATTTCTCCCATACAGCCTTGTGACACCGAGGTAAAAGTGTATGTGTGTGCACAGGGCCATGTGTGCGAGCACGTGTGCATTCCTGCATATGTGTGCTGCGTCCGTGACATGCATGTGCAGGAGTGCAGTATCCACTGCCGTGTGTGTGCATGTGTGCACATGCCCCTGGCCTTGTGTGTATGAACTTGTGGGGCTTGTGCATGTGTATGTGCAAGCGTCCACGTGTGTGCGTGTGTGGGGTGCCCCATCCTGGGGAAGGTGTATCTGCAGGATGCTCGTGCTAGGAAGCTCAGGGCCATCATTTTCCAGGCCTGCTCTTTCCAGCCAGGCTCCTCATGACCCCTGGAAGGAGACTGATGTCCCTTTATGGCATTTGCAGCCTCCAGCCAGGCTGGAACCTCCCTTGTTGTCCTGCCCACATATTCTGTTCTCCCCACACTGGCCTTGCCTTTCCAGCCCTGCCAGTGCTGTTCCCTGCCCCTCTGTGTGTTTATAGGGAGCCAAGGCCCACACTGGAAGGGCACATCCTCTCCAGTCCCCACACTGTCCCTTAAGGCAGCTGTGACCTGGTCCTCCCACTCCCTGCATTTTGCAGATGGGAAAACTGAGGTTCAGGAGGCAGAATGACTGGCCCAAGATCTCAAGCCGTTGAGCTGGAATCTGAGCCCAGGTTTGGCAACTGCCCCTCCTGGCGCTTCCCCTTCTACACATTTTCTTCTACACTTCCAGAAAGTCTTCCTGGTTTTCCTCCTCACCCACACTCCATGAATCAGCCTCTGCTCAGAACTCTGACCTGCATCACAGCCCCCGCAGGCCCGCCCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATCCCCACTTGGGTCAGTGCCTTACCCGTCGCTCAAACTCTTCTCCTTGCTGCACCTCCCGCGGGTAGCCATCAATCAGGAAGCCTTTGGAAGTATTGACTTTGGCCACCATGGCATCCCGGAGCATGTCCAACACTGTCTCCTGGGGCACAGCAAAGGAGGAAGGGGCCATGAGCCTCTCCTCCCCATCCCTTCTCCCAGCCTCTGCTCACGCTGCTCCTGCCACCTGAAATGCCCTCTCCCCAACACAAATGTCCCAAACAAGCCTCCCCCTCCAGGAAGCTTCCTCGGAATTGTGGAGACCTGGACTGAGTGAATGAATGAATGAATGATGCATTCACTCAACAGTATTCACTGAGACCCTCCTTCCAGCCAGGTGCTGTCCTGGGTCCCGAGGACACGGCCATGGACCAATTAGGCCTTCCCTGCCCTGGGGAGCTCAGGGGCTGGTGAGGGGACAGACACATTCCACAGATGATTTCTCCATTTCTAAGCATGGCACAGGTTGTACGGGCAGAGAAGTGGGGCTTCTGGAGTAGAAAATTGGGGGGGGAGGTCTTAGGCCAAATCTGGGGAGTTAGGGAAGTCTGAAAGCTGAAGAGGAAAGAATATTCCAGGCTGGAAGGAGTATGGCTAGTCTGAGGGGACAGAGGCCAGGGTGGCTGAAGGATGGAGGGAAGGGAGAGAGTTGGGGGCAGGGCAGAGTCCTGCAAGGTCTTGGGAGCTTCTGGAAGGAACTTTCTGTCCAGGGCAATGGGGAACCACAGAAGGGTTTGGAGCCGGGGGCGGTTACGGTCAGCTTTGCCTGTGTGCCGTGGGCTTTGCTGCTGGTGGGACACCCACTCAGGGCTACTGTCATCCCCTGCCTCTCACCCCACCAGGGCCCACTCACCAGTGGAACCAGCTGCCCCTTCTCCATGATTTCCGACAGCTTCTTGCCCCTGGCCGAGCCTGAGCTGACCTCGGACCGCAGGAGGTCCCCGGTGGAGAGGTGGGTGTAGCCATACTTCTGCACGATCTTCTCACACTGGGTGCCCTTCCCTGAGCCAGGCCCACCTGCAAACGCCCACCCATTCATAAACCCCGAGACACAGGGTCCCAGGAGGAACAGGGGCTGCCAGGGTCTCCCAGAGAGGGAGGGGCAGAGCCCAGGGTGCAGCCCCAGGCCCGGGCTCCCTCCAGTGCCAGTGAAGACCCTTGCTGCACCACCCGCCTGCCCGCAACTCACCCACCACAAAGATGATCTTGGTTTTCTTCAGCTTCTCTGCGGGAGAGAAAAGGGGAGCAGGGCTCAGTCACTCGCTGGACCCACAGCCAGAGGCACCTCTGGAGTCCCAGGCCTGTGCTGGGCCCCAGGCGGAGGGACAGACACCGCTGGCGCTCCTGTCAGGGAGGCAGACAAGTCACAGCCCAGAGTCAGCAGGGATGTGAGTGAGCTCGGAGCCTGGGAGAGGTCAGGGAAGAGAGGGTGCTCCAGGCAGCCAGACGGGCAGAGGCAAAAGCCTAAAGGCTAAGTACTCTCCACACAGCCAGCGGGCTGGGCCGCCAGCCCTCATGGCGCCTCCCTGTGGGTGCCTGGACCCCGGGGCCGGTCACCTCTGGCTCTCAGATCGTCTTCTCTGCGGGGGTCACTCGAGGAGCAGCAGCCCATGGTCCCGTCCTGCCGTGTCTCCTGTGCACCCTGCCCTTCCCCTCTCAGGCCCTGGGCCGGCCCATCACCCGCCTCCCCCGGCAGTGGGGGCTTAGCAACCACAACATATGTTGCCATGGAGACAGTTGCCGGGGTGGAGGGCTGTGGTGGGCATGTGGAACTCTTGCCCAGAGAGGGCGGTGAGCTTGGCTCCAACCTCTGTCTCGTCCCGCCTGCTGTTAGATCCCAGCAAGGCCACAGCCCCACTGGGCAGAGGGAAACTGAGCTCGAGAGAGGGAAGGCCTGCTCAAGGGATGTCAGAACCAAAACCAGAACCCAAGCTCCCCACTGGGCTTTCAGGCTCCCCCGCTTCCCAGGGAAATAGAGGACCAGGCTGTATCCCACCTTGCTGTGTGACTTAGGAAAGGCCTGCCCCTCTCTGGTTCTCTGCCCCTTCCCCAGGGAG
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TCCTCCAGGGCACAGACTCACAGTCTCTGGTTCATCTGGGTCTCCAGGACCAAGCACAGTAGGCTCTTTACACACACCCAGCAGAGGTGGTAAATCTGGGAGAGCCAGCTCAGCCTCTGGGCTTGAGATTCTGGCTGTGGGGCCTCAGTCTCCCTGTCAGGACAATGGACATCTAGCCCGGGGAGTCCACAACGGGCACTGCCAGTCTCCAGAAAAGCTTTGGGTGTGAGCCGGCCACACTTCCAGGCTGACCCTCCCTCCTTCGGTGAAGCCCTGGCGCCCCCTGGTGTCCAGAGCCAAGAAGACCAGCTGCCCGGACACCTGGAGGCCACAGCAGGGATGGGACCAGGGCTGAGCCTGCGGCCCTCAGCGGCACCTACAACAGCCCTGGAAGGGTGGGGACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTTGTTCAGGCTTGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGTCCAGCCAGGTTCAAATGATTCTCGTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTACATGAGTTTTCACCATGTTGGCCAGGCTGGTTTTGACCCTGACCTCAAGTGATCTGCCCTCTTTGGCCTCCCAAAGTGCTAGGATCTCAGGCGTGAGCCACTGCACCCGGCCGACTTTCATTAACTCTATTTTCTAGATGTGGCCCTGAGGGTCACAGGTGGTACCACACAGCTGGTATGTGTGAGCCAGGCCAGGACATCTTTCAGAACTGTGGCACCTAACACAGGGTCAGGGGTCTGAGGTCTGAAGGAATCCAGCTAACCCCCATTTCAGATAGGGAAGGTGAGGGGCAGAGTGGGGTAGACACTTTCCTGAGGTCTTGCAGCCACTCATGCAGCCACTCAGAGGTCAGAAAATATGGCCTCCTATCCCCAGATGAGGCTGGAAGCTACGGAAGCCCAGAAGGCCCTACGGAGACGGGGCATGGGAATGGGGCATGGGAATGGGGCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATGCTGGTTAGGCTCCCCCTAGCCCTTGCCGACCTCTCCCTCCTAGGCCCTTGCAGTCCCGTTTATTTCTCCCATACAGCCTTGTGACACCGAGGTAAAAGTGTATGTGTGTGCACAGGGCCATGTGTGCGAGCACGTGTGCATTCCTGCATATGTGTGCTGCGTCCGTGACATGCATGTGCAGGAGTGCAGTATCCACTGCCGTGTGTGTGCATGTGTGCACATGCCCCTGGCCTTGTGTGTATGAACTTGTGGGGCTTGTGCATGTGTATGTGCAAGCGTCCACGTGTGTGCGTGTGTGGGGTGCCCCATCCTGGGGAAGGTGTATCTGCAGGATGCTCGTGCTAGGAAGCTCAGGGCCATCATTTTCCAGGCCTGCTCTTTCCAGCCAGGCTCCTCATGACCCCTGGAAGGAGACTGATGTCCCTTTATGGCATTTGCAGCCTCCAGCCAGGCTGGAACCTCCCTTGTTGTCCTGCCCACATATTCTGTTCTCCCCACACTGGCCTTGCCTTTCCAGCCCTGCCAGTGCTGTTCCCTGCCCCTCTGTGTGTTTATAGGGAGCCAAGGCCCACACTGGAAGGGCACATCCTCTCCAGTCCCCACACTGTCCCTTAAGGCAGCTGTGACCTGGTCCTCCCACTCCCTGCATTTTGCAGATGGGAAAACTGAGGTTCAGGAGGCAGAATGACTGGCCCAAGATCTCAAGCCGTTGAGCTGGAATCTGAGCCCAGGTTTGGCAACTGCCCCTCCTGGCGCTTCCCCTTCTACACATTTTCTTCTACACTTCCAGAAAGTCTTCCTGGTTTTCCTCCTCACCCACACTCCATGAATCAGCCTCTGCTCAGAACTCTGACCTGCATCACAGCCCCCGCAGGCCCGCCCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATCCCCACTTGGGTCAGTGCCTTACCCGTCGCTCAAACTCTTCTCCTTTCTGCACCTCCCGCGGGTAGCCATCAATCAGGAAGCCTTTGGAAGTATTGACTTTGGCCACCATGGCATCCCGGAGCATGTCCAACACTGTCTCCTGGGGCACAGCAAAGGAGGAAGGGGCCATGAGCCTCTCCTCCCCATCCCTTCTCCCAGCCTCTGCTCACGCTGCTCCTGCCACCTGAAATGCCCTCTCCCCAACACAAATGTCCCAAACAAGCCTCCCCCTCCAGGAAGCTTCCTCGGAATTGTGGAGACCTGGACTGAGTGAATGAATGAATGAATGATGCATTCACTCAACAGTATTCACTGAGACCCTCCTTCCAGCCAGGTGCTGTCCTGGGTCCCGAGGACACGGCCATGGACCAATTAGGCCTTCCCTGCCCTGGGGAGCTCAGGGGCTGGTGAGGGGACAGACACATTCCACAGATGATTTCTCCATTTCTAAGCATGGCACAGGTTGTACGGGCAGAGAAGTGGGGCTTCTGGAGTAGAAAATTGGGGGGGGAGGTCTTAGGCCAAATCTGGGGAGTTAGGGAAGTCTGAAAGCTGAAGAGGAAAGAATATTCCAGGCTGGAAGGAGTATGGCTAGTCTGAGGGGACAGAGGCCAGGGTGGCTGAAGGATGGAGGGAAGGGAGAGAGTTGGGGGCAGGGCAGAGTCCTGCAAGGTCTTGGGAGCTTCTGGAAGGAACTTTCTGTCCAGGGCAATGGGGAACCACAGAAGGGTTTGGAGCCGGGGGCGGTTACGGTCAGCTTTGCCTGTGTGCCGTGGGCTTTGCTGCTGGTGGGACACCCACTCAGGGCTACTGTCATCCCCTGCCTCTCACCCCACCAGGGCCCACTCACCAGTGGAACCAGCTGCCCCTTCTCCATGATTTCCGACAGCTTCTTGCCCCTGGCCGAGCCTGAGCTGACCTCGGACCGCAGGAGGTCCCCGGTGGAGAGGTGGGTGTAGCCATACTTCTGCACGATCTTCTCACACTGGGTGCCCTTCCCTGAGCCAGGCCCACCTGCAAACGCCCACCCATTCATAAACCCCGAGACACAGGGTCCCAGGAGGAACAGGGGCTGCCAGGGTCTCCCAGAGAGGGAGGGGCAGAGCCCAGGGTGCAGCCCCAGGCCCGGGCTCCCTCCAGTGCCAGTGAAGACCCTTGCTGCACCACCCGCCTGCCCGCAACTCACCCACCACAAAGATGATCTTGGTTTTCTTCAGCTTCTCTGCGGGAGAGAAAAGGGGAGCAGGGCTCAGTCACTCGCTGGACCCACAGCCAGAGGCACCTCTGGAGTCCCAGGCCTGTGCTGGGCCCCAGGCGGAGGGACAGACACCGCTGGCGCTCCTGTCAGGGAGGCAGACAAGTCACAGCCCAGAGTCAGCAGGGATGTGAGTGAGCTCGGAGCCTGGGAGAGGTCAGGGAAGAGAGGGTGCTCCAGGCAGCCAGACGGGCAGAGGCAAAAGCCTAAAGGCTAAGTACTCTCCACACAGCCAGCGGGCTGGGCCGCCAGCCCTCATGGCGCCTCCCTGTGGGTGCCTGGACCCCGGGGCCGGTCACCTCTGGCTCTCAGATCGTCTTCTCTGCGGGGGTCACTCGAGGAGCAGCAGCCCATGGTCCCGTCCTGCCGTGTCTCCTGTGCACCCTGCCCTTCCCCTCTCAGGCCCTGGGCCGGCCCATCACCCGCCTCCCCCGGCAGTGGGGGCTTAGCAACCACAACATATGTTGCCATGGAGACAGTTGCCGGGGTGGAGGGCTGTGGTGGGCATGTGGAACTCTTGCCCAGAGAGGGCGGTGAGCTTGGCTCCAACCTCTGTCTCGTCCCGCCTGCTGTTAGATCCCAGCAAGGCCACAGCCCCACTGGGCAGAGGGAAACTGAGCTCGAGAGAGGGAAGGCCTGCTCAAGGGATGTCAGAACCAAAACCAGAACCCAAGCTCCCCACTGGGCTTTCAGGCTCCCCCGCTTCCCAGGGAAATAGAGGACCAGGCTGTATCCCACCTTGCTGTGTGACTTAGGAAAGGCCTGCCCCTCTCTGGTTCTCTGCCCCTTCCCCAGGGAG
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Task1_train_13257
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Here is a genetic alteration in AK1, ST6GALNAC4-ST6GALNAC6-AK1 (adenylate kinase 1| ST6GALNAC4-ST6GALNAC6-AK1 readthrough) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Hemolytic anemia due to adenylate kinase deficiency
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AGATAGGGAAGGTGAGGGGCAGAGTGGGGTAGACACTTTCCTGAGGTCTTGCAGCCACTCATGCAGCCACTCAGAGGTCAGAAAATATGGCCTCCTATCCCCAGATGAGGCTGGAAGCTACGGAAGCCCAGAAGGCCCTACGGAGACGGGGCATGGGAATGGGGCATGGGAATGGGGCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATGCTGGTTAGGCTCCCCCTAGCCCTTGCCGACCTCTCCCTCCTAGGCCCTTGCAGTCCCGTTTATTTCTCCCATACAGCCTTGTGACACCGAGGTAAAAGTGTATGTGTGTGCACAGGGCCATGTGTGCGAGCACGTGTGCATTCCTGCATATGTGTGCTGCGTCCGTGACATGCATGTGCAGGAGTGCAGTATCCACTGCCGTGTGTGTGCATGTGTGCACATGCCCCTGGCCTTGTGTGTATGAACTTGTGGGGCTTGTGCATGTGTATGTGCAAGCGTCCACGTGTGTGCGTGTGTGGGGTGCCCCATCCTGGGGAAGGTGTATCTGCAGGATGCTCGTGCTAGGAAGCTCAGGGCCATCATTTTCCAGGCCTGCTCTTTCCAGCCAGGCTCCTCATGACCCCTGGAAGGAGACTGATGTCCCTTTATGGCATTTGCAGCCTCCAGCCAGGCTGGAACCTCCCTTGTTGTCCTGCCCACATATTCTGTTCTCCCCACACTGGCCTTGCCTTTCCAGCCCTGCCAGTGCTGTTCCCTGCCCCTCTGTGTGTTTATAGGGAGCCAAGGCCCACACTGGAAGGGCACATCCTCTCCAGTCCCCACACTGTCCCTTAAGGCAGCTGTGACCTGGTCCTCCCACTCCCTGCATTTTGCAGATGGGAAAACTGAGGTTCAGGAGGCAGAATGACTGGCCCAAGATCTCAAGCCGTTGAGCTGGAATCTGAGCCCAGGTTTGGCAACTGCCCCTCCTGGCGCTTCCCCTTCTACACATTTTCTTCTACACTTCCAGAAAGTCTTCCTGGTTTTCCTCCTCACCCACACTCCATGAATCAGCCTCTGCTCAGAACTCTGACCTGCATCACAGCCCCCGCAGGCCCGCCCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATCCCCACTTGGGTCAGTGCCTTACCCGTCGCTCAAACTCTTCTCCTTGCTGCACCTCCCGCGGGTAGCCATCAATCAGGAAGCCTTTGGAAGTATTGACTTTGGCCACCATGGCATCCCGGAGCATGTCCAACACTGTCTCCTGGGGCACAGCAAAGGAGGAAGGGGCCATGAGCCTCTCCTCCCCATCCCTTCTCCCAGCCTCTGCTCACGCTGCTCCTGCCACCTGAAATGCCCTCTCCCCAACACAAATGTCCCAAACAAGCCTCCCCCTCCAGGAAGCTTCCTCGGAATTGTGGAGACCTGGACTGAGTGAATGAATGAATGAATGATGCATTCACTCAACAGTATTCACTGAGACCCTCCTTCCAGCCAGGTGCTGTCCTGGGTCCCGAGGACACGGCCATGGACCAATTAGGCCTTCCCTGCCCTGGGGAGCTCAGGGGCTGGTGAGGGGACAGACACATTCCACAGATGATTTCTCCATTTCTAAGCATGGCACAGGTTGTACGGGCAGAGAAGTGGGGCTTCTGGAGTAGAAAATTGGGGGGGGAGGTCTTAGGCCAAATCTGGGGAGTTAGGGAAGTCTGAAAGCTGAAGAGGAAAGAATATTCCAGGCTGGAAGGAGTATGGCTAGTCTGAGGGGACAGAGGCCAGGGTGGCTGAAGGATGGAGGGAAGGGAGAGAGTTGGGGGCAGGGCAGAGTCCTGCAAGGTCTTGGGAGCTTCTGGAAGGAACTTTCTGTCCAGGGCAATGGGGAACCACAGAAGGGTTTGGAGCCGGGGGCGGTTACGGTCAGCTTTGCCTGTGTGCCGTGGGCTTTGCTGCTGGTGGGACACCCACTCAGGGCTACTGTCATCCCCTGCCTCTCACCCCACCAGGGCCCACTCACCAGTGGAACCAGCTGCCCCTTCTCCATGATTTCCGACAGCTTCTTGCCCCTGGCCGAGCCTGAGCTGACCTCGGACCGCAGGAGGTCCCCGGTGGAGAGGTGGGTGTAGCCATACTTCTGCACGATCTTCTCACACTGGGTGCCCTTCCCTGAGCCAGGCCCACCTGCAAACGCCCACCCATTCATAAACCCCGAGACACAGGGTCCCAGGAGGAACAGGGGCTGCCAGGGTCTCCCAGAGAGGGAGGGGCAGAGCCCAGGGTGCAGCCCCAGGCCCGGGCTCCCTCCAGTGCCAGTGAAGACCCTTGCTGCACCACCCGCCTGCCCGCAACTCACCCACCACAAAGATGATCTTGGTTTTCTTCAGCTTCTCTGCGGGAGAGAAAAGGGGAGCAGGGCTCAGTCACTCGCTGGACCCACAGCCAGAGGCACCTCTGGAGTCCCAGGCCTGTGCTGGGCCCCAGGCGGAGGGACAGACACCGCTGGCGCTCCTGTCAGGGAGGCAGACAAGTCACAGCCCAGAGTCAGCAGGGATGTGAGTGAGCTCGGAGCCTGGGAGAGGTCAGGGAAGAGAGGGTGCTCCAGGCAGCCAGACGGGCAGAGGCAAAAGCCTAAAGGCTAAGTACTCTCCACACAGCCAGCGGGCTGGGCCGCCAGCCCTCATGGCGCCTCCCTGTGGGTGCCTGGACCCCGGGGCCGGTCACCTCTGGCTCTCAGATCGTCTTCTCTGCGGGGGTCACTCGAGGAGCAGCAGCCCATGGTCCCGTCCTGCCGTGTCTCCTGTGCACCCTGCCCTTCCCCTCTCAGGCCCTGGGCCGGCCCATCACCCGCCTCCCCCGGCAGTGGGGGCTTAGCAACCACAACATATGTTGCCATGGAGACAGTTGCCGGGGTGGAGGGCTGTGGTGGGCATGTGGAACTCTTGCCCAGAGAGGGCGGTGAGCTTGGCTCCAACCTCTGTCTCGTCCCGCCTGCTGTTAGATCCCAGCAAGGCCACAGCCCCACTGGGCAGAGGGAAACTGAGCTCGAGAGAGGGAAGGCCTGCTCAAGGGATGTCAGAACCAAAACCAGAACCCAAGCTCCCCACTGGGCTTTCAGGCTCCCCCGCTTCCCAGGGAAATAGAGGACCAGGCTGTATCCCACCTTGCTGTGTGACTTAGGAAAGGCCTGCCCCTCTCTGGTTCTCTGCCCCTTCCCCAGGGAGGAGGTGGGCTGGGCGGCTCCCAGGGGCCCTCCCAGCCATAAGGCTGGAGCCCTACAGGAGCTGTCAAGAAGGGCTCCTCCTGTGGGCCCCTATCCCGGGGGTGCAGTGGCCGCAGCCCTATGGCTGTTGATATTTGGAGCTCAGGCAGAGCAGCAGCAGCAGCAGCAGCAGGCCCGCTGGGTGTCTTTAAGAGCTGCCCAGGCCAAGGCACAGTGCCAGGAACTGGACGGATGGTGCTGCCAGCAGCTGAGGGCGGGCCCGTTCTGGACTCTCTGCCTGCCCGTGTCTCCCTCTAAGTCCCAGCCCATAGGAACTAGGAGGGTCCAAGACTTCCTCAAGGCCCACCCTCACTGGATGATAGGGAAACTGAGTCCCGGAGAGGTACGGGGAATTGCCTTGTCCTCATTAGACCTGGTGTTTTGTGTATCTGTGGCCTCTCCATGGGGCAGGGTCTCAGCTCTATAAACCCAGCATAGGGGGTGTGCGCTGGGGCCCTCAGGAGCCTTGGGGAGGCCTCGTCACGTCTAAAATTAATCTTGGAGCTGGCACATCCCGTGAGAGGCCAGAGGAGGATACTGGAGGCTCCCAGCCAGGCCCCCTCCGGCAGCCCCAGAGCCTCCTCCAACCCCTCCCAGAATGTCTCCCTGAGAGCGCACCCCCTTAATAGTCAGGCACACTGAGGCCCAGGCAATGGGCAAAAGGAGAGGAGGCTCATACCTTCCATCCTGCCGAGGTCCCGGGAGCCGTGTCAGTGCTCTGTAAGACAAGGGCACAGGTTGGGGAGGGATTTTCCTCCTCACCCTGACTCACCTTCCACTAAGCCACACCCAAGGCAACTGGTGTGTGCCAGGCCCGACATGC
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AGATAGGGAAGGTGAGGGGCAGAGTGGGGTAGACACTTTCCTGAGGTCTTGCAGCCACTCATGCAGCCACTCAGAGGTCAGAAAATATGGCCTCCTATCCCCAGATGAGGCTGGAAGCTACGGAAGCCCAGAAGGCCCTACGGAGACGGGGCATGGGAATGGGGCATGGGAATGGGGCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATGCTGGTTAGGCTCCCCCTAGCCCTTGCCGACCTCTCCCTCCTAGGCCCTTGCAGTCCCGTTTATTTCTCCCATACAGCCTTGTGACACCGAGGTAAAAGTGTATGTGTGTGCACAGGGCCATGTGTGCGAGCACGTGTGCATTCCTGCATATGTGTGCTGCGTCCGTGACATGCATGTGCAGGAGTGCAGTATCCACTGCCGTGTGTGTGCATGTGTGCACATGCCCCTGGCCTTGTGTGTATGAACTTGTGGGGCTTGTGCATGTGTATGTGCAAGCGTCCACGTGTGTGCGTGTGTGGGGTGCCCCATCCTGGGGAAGGTGTATCTGCAGGATGCTCGTGCTAGGAAGCTCAGGGCCATCATTTTCCAGGCCTGCTCTTTCCAGCCAGGCTCCTCATGACCCCTGGAAGGAGACTGATGTCCCTTTATGGCATTTGCAGCCTCCAGCCAGGCTGGAACCTCCCTTGTTGTCCTGCCCACATATTCTGTTCTCCCCACACTGGCCTTGCCTTTCCAGCCCTGCCAGTGCTGTTCCCTGCCCCTCTGTGTGTTTATAGGGAGCCAAGGCCCACACTGGAAGGGCACATCCTCTCCAGTCCCCACACTGTCCCTTAAGGCAGCTGTGACCTGGTCCTCCCACTCCCTGCATTTTGCAGATGGGAAAACTGAGGTTCAGGAGGCAGAATGACTGGCCCAAGATCTCAAGCCGTTGAGCTGGAATCTGAGCCCAGGTTTGGCAACTGCCCCTCCTGGCGCTTCCCCTTCTACACATTTTCTTCTACACTTCCAGAAAGTCTTCCTGGTTTTCCTCCTCACCCACACTCCATGAATCAGCCTCTGCTCAGAACTCTGACCTGCATCACAGCCCCCGCAGGCCCGCCCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATCCCCACTTGGGTCAGTGCCTTACCCGTCGCTCAAACTCTTCTCCTTGCTGCACCTCCCGCGGGTAGCCATCAATCAGGAAGCCTTTGGAAGTATTGACTTTGGCCACCATGGCATCCCGGAGCATGTCCAACACTGTCTCCTGGGGCACAGCAAAGGAGGAAGGGGCCATGAGCCTCTCCTCCCCATCCCTTCTCCCAGCCTCTGCTCACGCTGCTCCTGCCACCTGAAATGCCCTCTCCCCAACACAAATGTCCCAAACAAGCCTCCCCCTCCAGGAAGCTTCCTCGGAATTGTGGAGACCTGGACTGAGTGAATGAATGAATGAATGATGCATTCACTCAACAGTATTCACTGAGACCCTCCTTCCAGCCAGGTGCTGTCCTGGGTCCCGAGGACACGGCCATGGACCAATTAGGCCTTCCCTGCCCTGGGGAGCTCAGGGGCTGGTGAGGGGACAGACACATTCCACAGATGATTTCTCCATTTCTAAGCATGGCACAGGTTGTACGGGCAGAGAAGTGGGGCTTCTGGAGTAGAAAATTGGGGGGGGAGGTCTTAGGCCAAATCTGGGGAGTTAGGGAAGTCTGAAAGCTGAAGAGGAAAGAATATTCCAGGCTGGAAGGAGTATGGCTAGTCTGAGGGGACAGAGGCCAGGGTGGCTGAAGGATGGAGGGAAGGGAGAGAGTTGGGGGCAGGGCAGAGTCCTGCAAGGTCTTGGGAGCTTCTGGAAGGAACTTTCTGTCCAGGGCAATGGGGAACCACAGAAGGGTTTGGAGCCGGGGGCGGTTACGGTCAGCTTTGCCTGTGTGCCGTGGGCTTTGCTGCTGGTGGGACACCCACTCAGGGCTACTGTCATCCCCTGCCTCTCACCCCACCAGGGCCCACTCACCAGTGGAACCAGCTGCCTCTTCTCCATGATTTCCGACAGCTTCTTGCCCCTGGCCGAGCCTGAGCTGACCTCGGACCGCAGGAGGTCCCCGGTGGAGAGGTGGGTGTAGCCATACTTCTGCACGATCTTCTCACACTGGGTGCCCTTCCCTGAGCCAGGCCCACCTGCAAACGCCCACCCATTCATAAACCCCGAGACACAGGGTCCCAGGAGGAACAGGGGCTGCCAGGGTCTCCCAGAGAGGGAGGGGCAGAGCCCAGGGTGCAGCCCCAGGCCCGGGCTCCCTCCAGTGCCAGTGAAGACCCTTGCTGCACCACCCGCCTGCCCGCAACTCACCCACCACAAAGATGATCTTGGTTTTCTTCAGCTTCTCTGCGGGAGAGAAAAGGGGAGCAGGGCTCAGTCACTCGCTGGACCCACAGCCAGAGGCACCTCTGGAGTCCCAGGCCTGTGCTGGGCCCCAGGCGGAGGGACAGACACCGCTGGCGCTCCTGTCAGGGAGGCAGACAAGTCACAGCCCAGAGTCAGCAGGGATGTGAGTGAGCTCGGAGCCTGGGAGAGGTCAGGGAAGAGAGGGTGCTCCAGGCAGCCAGACGGGCAGAGGCAAAAGCCTAAAGGCTAAGTACTCTCCACACAGCCAGCGGGCTGGGCCGCCAGCCCTCATGGCGCCTCCCTGTGGGTGCCTGGACCCCGGGGCCGGTCACCTCTGGCTCTCAGATCGTCTTCTCTGCGGGGGTCACTCGAGGAGCAGCAGCCCATGGTCCCGTCCTGCCGTGTCTCCTGTGCACCCTGCCCTTCCCCTCTCAGGCCCTGGGCCGGCCCATCACCCGCCTCCCCCGGCAGTGGGGGCTTAGCAACCACAACATATGTTGCCATGGAGACAGTTGCCGGGGTGGAGGGCTGTGGTGGGCATGTGGAACTCTTGCCCAGAGAGGGCGGTGAGCTTGGCTCCAACCTCTGTCTCGTCCCGCCTGCTGTTAGATCCCAGCAAGGCCACAGCCCCACTGGGCAGAGGGAAACTGAGCTCGAGAGAGGGAAGGCCTGCTCAAGGGATGTCAGAACCAAAACCAGAACCCAAGCTCCCCACTGGGCTTTCAGGCTCCCCCGCTTCCCAGGGAAATAGAGGACCAGGCTGTATCCCACCTTGCTGTGTGACTTAGGAAAGGCCTGCCCCTCTCTGGTTCTCTGCCCCTTCCCCAGGGAGGAGGTGGGCTGGGCGGCTCCCAGGGGCCCTCCCAGCCATAAGGCTGGAGCCCTACAGGAGCTGTCAAGAAGGGCTCCTCCTGTGGGCCCCTATCCCGGGGGTGCAGTGGCCGCAGCCCTATGGCTGTTGATATTTGGAGCTCAGGCAGAGCAGCAGCAGCAGCAGCAGCAGGCCCGCTGGGTGTCTTTAAGAGCTGCCCAGGCCAAGGCACAGTGCCAGGAACTGGACGGATGGTGCTGCCAGCAGCTGAGGGCGGGCCCGTTCTGGACTCTCTGCCTGCCCGTGTCTCCCTCTAAGTCCCAGCCCATAGGAACTAGGAGGGTCCAAGACTTCCTCAAGGCCCACCCTCACTGGATGATAGGGAAACTGAGTCCCGGAGAGGTACGGGGAATTGCCTTGTCCTCATTAGACCTGGTGTTTTGTGTATCTGTGGCCTCTCCATGGGGCAGGGTCTCAGCTCTATAAACCCAGCATAGGGGGTGTGCGCTGGGGCCCTCAGGAGCCTTGGGGAGGCCTCGTCACGTCTAAAATTAATCTTGGAGCTGGCACATCCCGTGAGAGGCCAGAGGAGGATACTGGAGGCTCCCAGCCAGGCCCCCTCCGGCAGCCCCAGAGCCTCCTCCAACCCCTCCCAGAATGTCTCCCTGAGAGCGCACCCCCTTAATAGTCAGGCACACTGAGGCCCAGGCAATGGGCAAAAGGAGAGGAGGCTCATACCTTCCATCCTGCCGAGGTCCCGGGAGCCGTGTCAGTGCTCTGTAAGACAAGGGCACAGGTTGGGGAGGGATTTTCCTCCTCACCCTGACTCACCTTCCACTAAGCCACACCCAAGGCAACTGGTGTGTGCCAGGCCCGACATGC
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Task1_train_13258
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This variant lies on Chromosome 9 and affects the gene AK1, ST6GALNAC4-ST6GALNAC6-AK1 (adenylate kinase 1| ST6GALNAC4-ST6GALNAC6-AK1 readthrough). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Hemolytic anemia due to adenylate kinase deficiency
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AGAGGTCAGAAAATATGGCCTCCTATCCCCAGATGAGGCTGGAAGCTACGGAAGCCCAGAAGGCCCTACGGAGACGGGGCATGGGAATGGGGCATGGGAATGGGGCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATGCTGGTTAGGCTCCCCCTAGCCCTTGCCGACCTCTCCCTCCTAGGCCCTTGCAGTCCCGTTTATTTCTCCCATACAGCCTTGTGACACCGAGGTAAAAGTGTATGTGTGTGCACAGGGCCATGTGTGCGAGCACGTGTGCATTCCTGCATATGTGTGCTGCGTCCGTGACATGCATGTGCAGGAGTGCAGTATCCACTGCCGTGTGTGTGCATGTGTGCACATGCCCCTGGCCTTGTGTGTATGAACTTGTGGGGCTTGTGCATGTGTATGTGCAAGCGTCCACGTGTGTGCGTGTGTGGGGTGCCCCATCCTGGGGAAGGTGTATCTGCAGGATGCTCGTGCTAGGAAGCTCAGGGCCATCATTTTCCAGGCCTGCTCTTTCCAGCCAGGCTCCTCATGACCCCTGGAAGGAGACTGATGTCCCTTTATGGCATTTGCAGCCTCCAGCCAGGCTGGAACCTCCCTTGTTGTCCTGCCCACATATTCTGTTCTCCCCACACTGGCCTTGCCTTTCCAGCCCTGCCAGTGCTGTTCCCTGCCCCTCTGTGTGTTTATAGGGAGCCAAGGCCCACACTGGAAGGGCACATCCTCTCCAGTCCCCACACTGTCCCTTAAGGCAGCTGTGACCTGGTCCTCCCACTCCCTGCATTTTGCAGATGGGAAAACTGAGGTTCAGGAGGCAGAATGACTGGCCCAAGATCTCAAGCCGTTGAGCTGGAATCTGAGCCCAGGTTTGGCAACTGCCCCTCCTGGCGCTTCCCCTTCTACACATTTTCTTCTACACTTCCAGAAAGTCTTCCTGGTTTTCCTCCTCACCCACACTCCATGAATCAGCCTCTGCTCAGAACTCTGACCTGCATCACAGCCCCCGCAGGCCCGCCCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATCCCCACTTGGGTCAGTGCCTTACCCGTCGCTCAAACTCTTCTCCTTGCTGCACCTCCCGCGGGTAGCCATCAATCAGGAAGCCTTTGGAAGTATTGACTTTGGCCACCATGGCATCCCGGAGCATGTCCAACACTGTCTCCTGGGGCACAGCAAAGGAGGAAGGGGCCATGAGCCTCTCCTCCCCATCCCTTCTCCCAGCCTCTGCTCACGCTGCTCCTGCCACCTGAAATGCCCTCTCCCCAACACAAATGTCCCAAACAAGCCTCCCCCTCCAGGAAGCTTCCTCGGAATTGTGGAGACCTGGACTGAGTGAATGAATGAATGAATGATGCATTCACTCAACAGTATTCACTGAGACCCTCCTTCCAGCCAGGTGCTGTCCTGGGTCCCGAGGACACGGCCATGGACCAATTAGGCCTTCCCTGCCCTGGGGAGCTCAGGGGCTGGTGAGGGGACAGACACATTCCACAGATGATTTCTCCATTTCTAAGCATGGCACAGGTTGTACGGGCAGAGAAGTGGGGCTTCTGGAGTAGAAAATTGGGGGGGGAGGTCTTAGGCCAAATCTGGGGAGTTAGGGAAGTCTGAAAGCTGAAGAGGAAAGAATATTCCAGGCTGGAAGGAGTATGGCTAGTCTGAGGGGACAGAGGCCAGGGTGGCTGAAGGATGGAGGGAAGGGAGAGAGTTGGGGGCAGGGCAGAGTCCTGCAAGGTCTTGGGAGCTTCTGGAAGGAACTTTCTGTCCAGGGCAATGGGGAACCACAGAAGGGTTTGGAGCCGGGGGCGGTTACGGTCAGCTTTGCCTGTGTGCCGTGGGCTTTGCTGCTGGTGGGACACCCACTCAGGGCTACTGTCATCCCCTGCCTCTCACCCCACCAGGGCCCACTCACCAGTGGAACCAGCTGCCCCTTCTCCATGATTTCCGACAGCTTCTTGCCCCTGGCCGAGCCTGAGCTGACCTCGGACCGCAGGAGGTCCCCGGTGGAGAGGTGGGTGTAGCCATACTTCTGCACGATCTTCTCACACTGGGTGCCCTTCCCTGAGCCAGGCCCACCTGCAAACGCCCACCCATTCATAAACCCCGAGACACAGGGTCCCAGGAGGAACAGGGGCTGCCAGGGTCTCCCAGAGAGGGAGGGGCAGAGCCCAGGGTGCAGCCCCAGGCCCGGGCTCCCTCCAGTGCCAGTGAAGACCCTTGCTGCACCACCCGCCTGCCCGCAACTCACCCACCACAAAGATGATCTTGGTTTTCTTCAGCTTCTCTGCGGGAGAGAAAAGGGGAGCAGGGCTCAGTCACTCGCTGGACCCACAGCCAGAGGCACCTCTGGAGTCCCAGGCCTGTGCTGGGCCCCAGGCGGAGGGACAGACACCGCTGGCGCTCCTGTCAGGGAGGCAGACAAGTCACAGCCCAGAGTCAGCAGGGATGTGAGTGAGCTCGGAGCCTGGGAGAGGTCAGGGAAGAGAGGGTGCTCCAGGCAGCCAGACGGGCAGAGGCAAAAGCCTAAAGGCTAAGTACTCTCCACACAGCCAGCGGGCTGGGCCGCCAGCCCTCATGGCGCCTCCCTGTGGGTGCCTGGACCCCGGGGCCGGTCACCTCTGGCTCTCAGATCGTCTTCTCTGCGGGGGTCACTCGAGGAGCAGCAGCCCATGGTCCCGTCCTGCCGTGTCTCCTGTGCACCCTGCCCTTCCCCTCTCAGGCCCTGGGCCGGCCCATCACCCGCCTCCCCCGGCAGTGGGGGCTTAGCAACCACAACATATGTTGCCATGGAGACAGTTGCCGGGGTGGAGGGCTGTGGTGGGCATGTGGAACTCTTGCCCAGAGAGGGCGGTGAGCTTGGCTCCAACCTCTGTCTCGTCCCGCCTGCTGTTAGATCCCAGCAAGGCCACAGCCCCACTGGGCAGAGGGAAACTGAGCTCGAGAGAGGGAAGGCCTGCTCAAGGGATGTCAGAACCAAAACCAGAACCCAAGCTCCCCACTGGGCTTTCAGGCTCCCCCGCTTCCCAGGGAAATAGAGGACCAGGCTGTATCCCACCTTGCTGTGTGACTTAGGAAAGGCCTGCCCCTCTCTGGTTCTCTGCCCCTTCCCCAGGGAGGAGGTGGGCTGGGCGGCTCCCAGGGGCCCTCCCAGCCATAAGGCTGGAGCCCTACAGGAGCTGTCAAGAAGGGCTCCTCCTGTGGGCCCCTATCCCGGGGGTGCAGTGGCCGCAGCCCTATGGCTGTTGATATTTGGAGCTCAGGCAGAGCAGCAGCAGCAGCAGCAGCAGGCCCGCTGGGTGTCTTTAAGAGCTGCCCAGGCCAAGGCACAGTGCCAGGAACTGGACGGATGGTGCTGCCAGCAGCTGAGGGCGGGCCCGTTCTGGACTCTCTGCCTGCCCGTGTCTCCCTCTAAGTCCCAGCCCATAGGAACTAGGAGGGTCCAAGACTTCCTCAAGGCCCACCCTCACTGGATGATAGGGAAACTGAGTCCCGGAGAGGTACGGGGAATTGCCTTGTCCTCATTAGACCTGGTGTTTTGTGTATCTGTGGCCTCTCCATGGGGCAGGGTCTCAGCTCTATAAACCCAGCATAGGGGGTGTGCGCTGGGGCCCTCAGGAGCCTTGGGGAGGCCTCGTCACGTCTAAAATTAATCTTGGAGCTGGCACATCCCGTGAGAGGCCAGAGGAGGATACTGGAGGCTCCCAGCCAGGCCCCCTCCGGCAGCCCCAGAGCCTCCTCCAACCCCTCCCAGAATGTCTCCCTGAGAGCGCACCCCCTTAATAGTCAGGCACACTGAGGCCCAGGCAATGGGCAAAAGGAGAGGAGGCTCATACCTTCCATCCTGCCGAGGTCCCGGGAGCCGTGTCAGTGCTCTGTAAGACAAGGGCACAGGTTGGGGAGGGATTTTCCTCCTCACCCTGACTCACCTTCCACTAAGCCACACCCAAGGCAACTGGTGTGTGCCAGGCCCGACATGCAGTCTGAGGGCAGAGGGGGCTGCTGGGGGCAGGGAAGGCCCAGGACCCCTTCCCTGAGAAAGCCACCTTGGG
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AGAGGTCAGAAAATATGGCCTCCTATCCCCAGATGAGGCTGGAAGCTACGGAAGCCCAGAAGGCCCTACGGAGACGGGGCATGGGAATGGGGCATGGGAATGGGGCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATGCTGGTTAGGCTCCCCCTAGCCCTTGCCGACCTCTCCCTCCTAGGCCCTTGCAGTCCCGTTTATTTCTCCCATACAGCCTTGTGACACCGAGGTAAAAGTGTATGTGTGTGCACAGGGCCATGTGTGCGAGCACGTGTGCATTCCTGCATATGTGTGCTGCGTCCGTGACATGCATGTGCAGGAGTGCAGTATCCACTGCCGTGTGTGTGCATGTGTGCACATGCCCCTGGCCTTGTGTGTATGAACTTGTGGGGCTTGTGCATGTGTATGTGCAAGCGTCCACGTGTGTGCGTGTGTGGGGTGCCCCATCCTGGGGAAGGTGTATCTGCAGGATGCTCGTGCTAGGAAGCTCAGGGCCATCATTTTCCAGGCCTGCTCTTTCCAGCCAGGCTCCTCATGACCCCTGGAAGGAGACTGATGTCCCTTTATGGCATTTGCAGCCTCCAGCCAGGCTGGAACCTCCCTTGTTGTCCTGCCCACATATTCTGTTCTCCCCACACTGGCCTTGCCTTTCCAGCCCTGCCAGTGCTGTTCCCTGCCCCTCTGTGTGTTTATAGGGAGCCAAGGCCCACACTGGAAGGGCACATCCTCTCCAGTCCCCACACTGTCCCTTAAGGCAGCTGTGACCTGGTCCTCCCACTCCCTGCATTTTGCAGATGGGAAAACTGAGGTTCAGGAGGCAGAATGACTGGCCCAAGATCTCAAGCCGTTGAGCTGGAATCTGAGCCCAGGTTTGGCAACTGCCCCTCCTGGCGCTTCCCCTTCTACACATTTTCTTCTACACTTCCAGAAAGTCTTCCTGGTTTTCCTCCTCACCCACACTCCATGAATCAGCCTCTGCTCAGAACTCTGACCTGCATCACAGCCCCCGCAGGCCCGCCCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATCCCCACTTGGGTCAGTGCCTTACCCGTCGCTCAAACTCTTCTCCTTGCTGCACCTCCCGCGGGTAGCCATCAATCAGGAAGCCTTTGGAAGTATTGACTTTGGCCACCATGGCATCCCGGAGCATGTCCAACACTGTCTCCTGGGGCACAGCAAAGGAGGAAGGGGCCATGAGCCTCTCCTCCCCATCCCTTCTCCCAGCCTCTGCTCACGCTGCTCCTGCCACCTGAAATGCCCTCTCCCCAACACAAATGTCCCAAACAAGCCTCCCCCTCCAGGAAGCTTCCTCGGAATTGTGGAGACCTGGACTGAGTGAATGAATGAATGAATGATGCATTCACTCAACAGTATTCACTGAGACCCTCCTTCCAGCCAGGTGCTGTCCTGGGTCCCGAGGACACGGCCATGGACCAATTAGGCCTTCCCTGCCCTGGGGAGCTCAGGGGCTGGTGAGGGGACAGACACATTCCACAGATGATTTCTCCATTTCTAAGCATGGCACAGGTTGTACGGGCAGAGAAGTGGGGCTTCTGGAGTAGAAAATTGGGGGGGGAGGTCTTAGGCCAAATCTGGGGAGTTAGGGAAGTCTGAAAGCTGAAGAGGAAAGAATATTCCAGGCTGGAAGGAGTATGGCTAGTCTGAGGGGACAGAGGCCAGGGTGGCTGAAGGATGGAGGGAAGGGAGAGAGTTGGGGGCAGGGCAGAGTCCTGCAAGGTCTTGGGAGCTTCTGGAAGGAACTTTCTGTCCAGGGCAATGGGGAACCACAGAAGGGTTTGGAGCCGGGGGCGGTTACGGTCAGCTTTGCCTGTGTGCCGTGGGCTTTGCTGCTGGTGGGACACCCACTCAGGGCTACTGTCATCCCCTGCCTCTCACCCCACCAGGGCCCACTCACCAGTGGAACCAGCTGCCCCTTCTCCATGATTTCCGACAGCTTCTTGCCCCTGGCCGAGCCTGAGCTGACCTCGGACCGCAGGAGGTCCCTGGTGGAGAGGTGGGTGTAGCCATACTTCTGCACGATCTTCTCACACTGGGTGCCCTTCCCTGAGCCAGGCCCACCTGCAAACGCCCACCCATTCATAAACCCCGAGACACAGGGTCCCAGGAGGAACAGGGGCTGCCAGGGTCTCCCAGAGAGGGAGGGGCAGAGCCCAGGGTGCAGCCCCAGGCCCGGGCTCCCTCCAGTGCCAGTGAAGACCCTTGCTGCACCACCCGCCTGCCCGCAACTCACCCACCACAAAGATGATCTTGGTTTTCTTCAGCTTCTCTGCGGGAGAGAAAAGGGGAGCAGGGCTCAGTCACTCGCTGGACCCACAGCCAGAGGCACCTCTGGAGTCCCAGGCCTGTGCTGGGCCCCAGGCGGAGGGACAGACACCGCTGGCGCTCCTGTCAGGGAGGCAGACAAGTCACAGCCCAGAGTCAGCAGGGATGTGAGTGAGCTCGGAGCCTGGGAGAGGTCAGGGAAGAGAGGGTGCTCCAGGCAGCCAGACGGGCAGAGGCAAAAGCCTAAAGGCTAAGTACTCTCCACACAGCCAGCGGGCTGGGCCGCCAGCCCTCATGGCGCCTCCCTGTGGGTGCCTGGACCCCGGGGCCGGTCACCTCTGGCTCTCAGATCGTCTTCTCTGCGGGGGTCACTCGAGGAGCAGCAGCCCATGGTCCCGTCCTGCCGTGTCTCCTGTGCACCCTGCCCTTCCCCTCTCAGGCCCTGGGCCGGCCCATCACCCGCCTCCCCCGGCAGTGGGGGCTTAGCAACCACAACATATGTTGCCATGGAGACAGTTGCCGGGGTGGAGGGCTGTGGTGGGCATGTGGAACTCTTGCCCAGAGAGGGCGGTGAGCTTGGCTCCAACCTCTGTCTCGTCCCGCCTGCTGTTAGATCCCAGCAAGGCCACAGCCCCACTGGGCAGAGGGAAACTGAGCTCGAGAGAGGGAAGGCCTGCTCAAGGGATGTCAGAACCAAAACCAGAACCCAAGCTCCCCACTGGGCTTTCAGGCTCCCCCGCTTCCCAGGGAAATAGAGGACCAGGCTGTATCCCACCTTGCTGTGTGACTTAGGAAAGGCCTGCCCCTCTCTGGTTCTCTGCCCCTTCCCCAGGGAGGAGGTGGGCTGGGCGGCTCCCAGGGGCCCTCCCAGCCATAAGGCTGGAGCCCTACAGGAGCTGTCAAGAAGGGCTCCTCCTGTGGGCCCCTATCCCGGGGGTGCAGTGGCCGCAGCCCTATGGCTGTTGATATTTGGAGCTCAGGCAGAGCAGCAGCAGCAGCAGCAGCAGGCCCGCTGGGTGTCTTTAAGAGCTGCCCAGGCCAAGGCACAGTGCCAGGAACTGGACGGATGGTGCTGCCAGCAGCTGAGGGCGGGCCCGTTCTGGACTCTCTGCCTGCCCGTGTCTCCCTCTAAGTCCCAGCCCATAGGAACTAGGAGGGTCCAAGACTTCCTCAAGGCCCACCCTCACTGGATGATAGGGAAACTGAGTCCCGGAGAGGTACGGGGAATTGCCTTGTCCTCATTAGACCTGGTGTTTTGTGTATCTGTGGCCTCTCCATGGGGCAGGGTCTCAGCTCTATAAACCCAGCATAGGGGGTGTGCGCTGGGGCCCTCAGGAGCCTTGGGGAGGCCTCGTCACGTCTAAAATTAATCTTGGAGCTGGCACATCCCGTGAGAGGCCAGAGGAGGATACTGGAGGCTCCCAGCCAGGCCCCCTCCGGCAGCCCCAGAGCCTCCTCCAACCCCTCCCAGAATGTCTCCCTGAGAGCGCACCCCCTTAATAGTCAGGCACACTGAGGCCCAGGCAATGGGCAAAAGGAGAGGAGGCTCATACCTTCCATCCTGCCGAGGTCCCGGGAGCCGTGTCAGTGCTCTGTAAGACAAGGGCACAGGTTGGGGAGGGATTTTCCTCCTCACCCTGACTCACCTTCCACTAAGCCACACCCAAGGCAACTGGTGTGTGCCAGGCCCGACATGCAGTCTGAGGGCAGAGGGGGCTGCTGGGGGCAGGGAAGGCCCAGGACCCCTTCCCTGAGAAAGCCACCTTGGG
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Task1_train_13259
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This mutation is located in gene DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Congenital muscular dystrophy with intellectual disability and severe epilepsy
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TGGGCAGTTCTGCCTGGACTGGAGGACAGAGCATGGAGCAGGTGGGGAGAGGGCAGGTGTCTGCAGTTGGCCTTTTTCCTCTGTGATGAGGAAGATACCTCCACCAACTGGAAGAAAAGTGAGGGAACCGGGTTTGAGGAATGGGGGTTTACACTAGGTGCCGTGGAAAATGGGAGAGCCAGCTGCCCAGGCACGGTGGGACTGCTGGAAGGCTAGGGGCTGGGCCAGTCCAGCCAACCTGAACACAGAGCAGCCTTCACTGCTCAGGGCCACGTTAAGTTGGGCTGTGGGGTTTTTAGGGGAGTGGCCCAAGGGTCCCTAAAGTAATAAATCCAACCCGGCCAAGCTGGCACAGGGGAGGCATGGCAGAGGGGTGCCAGGGCCTCCAATGACTCCCAGCTGTGAGCTCCATTGGGTAGGAAGCACATCTGTCCCAGTCCCTGCTTTATCCCCAGCGCACAGGGTCAGGGCAGAAGGCCCCCGAGTCACCCCTACTGTACAGGATCTCCTGACCCAAGACCGCTCCCAGCCCGCTCCAGCCCCGACCCTGGGTAAACACGGCACAGAGACAAACACACCATCAGTGTTTATTGGTCAGCTGTCCCAAACGGGCCAGCCCTGGGGCTTTGGGGCTGGGCCTCCGTGAGGAGAGGTCAGTCGGTCAGCGGCCCGGGGTGGCTGCCCTGAGCCCCAGGGCTGGTCCTGGGGTCTGTCAGTCCTTCCCCAGGCTTTCCAGGTCCAGAAGGCTTTGTGGGGTCTGGGGCTGTGTCAGGGTAAGGAAAGCTGCCTTGGTGGAGGAAGAGAAGTCAGAGAGGTCACACATGTGGCCTTAGAACCTGCTAAGTCCAACGTCAGCATGTGACAGGAGGGGAAGTGAGGCAAGACGGCAGAACCCAGGGGAAAAGGTGGCAGGGAGTCTGAGAGTGAGGTTGGGAGGACCAGCATCTTTTAGGCCCTGAGCAAGAAGGAGGTGACCGGAGTCTTCCAGGTATCCCTCCCTCCTAGCTTCTGGAAGTGGGAGTCGGGGAGGGGGCTCCAGTCAGTCAGGTGTAAGCTCCATGCCATGGGGACTCTGCAGGACAGGCAGGCTTGAGGAGCCACTGTGCCTGGACAGGTTCTGCAGGCTCCCCCACTTGGTCCCTGTGCTGGAGGGGAAGCAGAGAAGGGGCTGGCAGCCTCATCCCTGCGGGACCTTCACTGAGCCTTCTTGGTCACTCTCTTGGTCTTCAGCATCACATAGGAGATGAACAGTCCTGGGATACACAGACCAGAAAGGCCACATAAGATCTAAGCTCAGGGCTGCTGGGAGGCCAGGGCATGACACAGCAGAGCCACCCACACACAGGGCTGTGAACCTACCCAACCATCCTCCAGGGAACCTGCTTATCTCCCTAGTCATTCGTCAAGGCATATGTCTACTCACATTCACTCAACAAACACCAACTGAGTGCCTGCCTCAAGCAAGATGCTGCATTTAGTGTTTCAGATTCCAAGGGGAACAAGATCCACCCATCTATCGATCACCCGGTCAACCACTTGTCTGTCCACCTACATACCTACCCACCTCCTCCTACACCTCACCCACCCACCCATCCATCCACCCATCATCCAGGCACCCGGCTGTTGACTGACTCATCCAAATGACTTTCTGAGCACAGCCTCAGTGCCACAGCCTGTTCTAGATGTGCAGTAATGATGGAGACACAGTCCCCATCCCTAGGAAGCCATGAGAGAGAGAGGTGCAGGAATTAGAAGCCAGGGTGACAAGAGGGTGACTGAGGTGTGAGCAGAGTGATGATGGGGTTGGGGCAGGAAAGAGGTAGACAGGTCATTGGAGTCCAAAAAGCCTGGGGCACCAGGAAACCCAGAGGTTACTGACTGGCAGCCTCGAAGGATGAACAGGAAAACCCCACGGGTGAGTTCGGGGCAAGCAGCTTCCAGCACCGCCAAAGTGTGGAAGCATGTTCAGAGGTGGGGTCTTCCCGAAACCCTGCCCAGGGTCAAGGGGAGGAGGTGATGACTTACCCACAAACAGGAGCAGCAGGAGGCCTGCAGCCAGTGGGATGGCGACAGCATAGGCTCGGGGCAGGAAATACTTGTGGATGACATGCTGACTGTCGATGAATGGCTGGCATCGAGGGAAGAGCTCTGGTGTGTCTTGCTTGCCTTGCCGAGCCCCCAAGCCCAAACGTCCCACCTCCTCCATCTAAGGGGCTGACCCATTCAGAGGACTGGGACTGCATTTGCTTTTCTTTAAGATTACGGCATTTGGGTGTCGTGGTTTGTTTCTTTCCTTAATTTCTTATTGGTATTTACCGGGCACTTGCTTTGGTGCCTGCTATAGGTTGGTGGTGGGGACAAGAGAACAGGGCACAAGAGACCTGCCCTAAGGCACCTCACAGCCTAGCAAATGGTACTTGAGGAATCCTCGACTGACTCCCAACCTGGGCCTCCAGGGCTTCTTCACTAATATTTTTTCTCTAAAGGATACCAAGTTCTGCACTTCCAGACACACTGCACTTCTTAAGCAATAACCAACAAGTTTTCCCACAAGAAAAAAATATCCTAAAGGCCTTCACAAATATCACTGGCGTTTGCCATGCCTAAGAGTCAGCAGGCTAACCCAGAAGGAACAGAACTCCCCCAAAAGTCAAAGCAAGCCGGAAACAGAGTTATAAGTGTAGCGGCTAAGGATGCAATCTTGGGCCAGATCCTTCTCCCCTAGCCTCAGCTATCTCATCTATAAAATGCGGTACCACTGGCATCTTCCTCATAGAGTTGTTCTGGAGAGTTCAAGAGATGAGGCAGGCAATGAAGCCAGCGCCGTGCCTAGAGCCTATATAGTAGTTGCTCTGGCGGTGCCAGGGCTCGGGGAAGGTGAGCAGCGGACGGGGAGAATGACATACCAAGAGAATCACCCAGGCGGTGTAGTAGGTGAAGATGATCAGGCTAACGGCGACGAGGCCGAGTCCCACCACCTGGTCTGTCCCCGTGGCCTGGAGAAAAGGGAGGTCTCAGCTGACGAAGTGACCCTCTATTTCGGCGCACTAATGGAAGCGGGGCGTCGCGGCCCGATCACGGTCTAAGCTTCCCATTCAACAGATGGTAGAGGGCTGACTAGGGATCAGTTTCTAGGCTGGGAGAGAATGCTAGGCCTCCGCGTTGTCGTCCGTACAATAGTGGGGGCGGGAGAGCAATCCCCGTTCCAAGTGCCCATGCCCCAGCTCCTGAGCAGACCCGGGACCCCACCCCCAGACGCCCCTATCTCCGGCACACGGTGCCAATCTCACCATTTCCCCGCGCGCTCAGCCACCCGAGCCGCAAGCCACATCCGGTTCCGGGTCCACGCTCTTCCGGCTTTGGACTGCGGAGCACGCCGGGAGTCGTAGTCCCCAGGCCTGCTCGGGCCCACCTCGTCGGAGACGAGCAGGAACCGCCTCCTCTTCTTTGCATATCGGCGAAGTGTAGTTCTCAAGAGCATTGTGGGGCCGGTTGCTGCCCGAATCTCTCTAGGGAATGGGACCGAGTTGGGGACCCAGACTCCCTGGCCTTCATGGCCACAGTCCTGTCGCCGCCCCACCAAAAGCCAATCTCTAAGTATCCCAGAGTCCCGGGGCCAGAGTGGGATGGGAGTGCGGGATCGGAAGTTCCATTTTTCAGATGGGAAAAGTGAGGCTCAGAGAAAGGTAGATCCCATTCCGAGTCAGTGGTGAAGCCGACACGGAAACCGGGTGCCCTACTTAGTCTGTAGGTGGGAGAGGTGCAGAGAACGTTCACTTTCCAGCCTAGGGTGGGCGGGGGAGGGTCTGTCCCTAGCCCGCATGGATGGGGAGGATTTGGTGGAGAGGAGGCGCCCTCCTCACCATCGCCCGGCCTCCCGGGCCACCCTTCGGATGTCCCCTCCCTTCCTTCACCGACTGTCTCTCGCAGCAGCCCAGACACGTTTCGGACCGGGACCCACGCACAGGCCCCTCCCCGGTCTTGGAAGGCCCTTCCTCTGAGAACAAAGAGATGTTGGGCCAGATCATCTTCCACGCTTCTTCAGCTCCGAGATAGGAACGCGGTCCCCCACCACTCACAGGCCGGCTGCTCCTCA
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TGGGCAGTTCTGCCTGGACTGGAGGACAGAGCATGGAGCAGGTGGGGAGAGGGCAGGTGTCTGCAGTTGGCCTTTTTCCTCTGTGATGAGGAAGATACCTCCACCAACTGGAAGAAAAGTGAGGGAACCGGGTTTGAGGAATGGGGGTTTACACTAGGTGCCGTGGAAAATGGGAGAGCCAGCTGCCCAGGCACGGTGGGACTGCTGGAAGGCTAGGGGCTGGGCCAGTCCAGCCAACCTGAACACAGAGCAGCCTTCACTGCTCAGGGCCACGTTAAGTTGGGCTGTGGGGTTTTTAGGGGAGTGGCCCAAGGGTCCCTAAAGTAATAAATCCAACCCGGCCAAGCTGGCACAGGGGAGGCATGGCAGAGGGGTGCCAGGGCCTCCAATGACTCCCAGCTGTGAGCTCCATTGGGTAGGAAGCACATCTGTCCCAGTCCCTGCTTTATCCCCAGCGCACAGGGTCAGGGCAGAAGGCCCCCGAGTCACCCCTACTGTACAGGATCTCCTGACCCAAGACCGCTCCCAGCCCGCTCCAGCCCCGACCCTGGGTAAACACGGCACAGAGACAAACACACCATCAGTGTTTATTGGTCAGCTGTCCCAAACGGGCCAGCCCTGGGGCTTTGGGGCTGGGCCTCCGTGAGGAGAGGTCAGTCGGTCAGCGGCCCGGGGTGGCTGCCCTGAGCCCCAGGGCTGGTCCTGGGGTCTGTCAGTCCTTCCCCAGGCTTTCCAGGTCCAGAAGGCTTTGTGGGGTCTGGGGCTGTGTCAGGGTAAGGAAAGCTGCCTTGGTGGAGGAAGAGAAGTCAGAGAGGTCACACATGTGGCCTTAGAACCTGCTAAGTCCAACGTCAGCATGTGACAGGAGGGGAAGTGAGGCAAGACGGCAGAACCCAGGGGAAAAGGTGGCAGGGAGTCTGAGAGTGAGGTTGGGAGGACCAGCATCTTTTAGGCCCTGAGCAAGAAGGAGGTGACCGGAGTCTTCCAGGTATCCCTCCCTCCTAGCTTCTGGAAGTGGGAGTCGGGGAGGGGGCTCCAGTCAGTCAGGTGTAAGCTCCATGCCATGGGGACTCTGCAGGACAGGCAGGCTTGAGGAGCCACTGTGCCTGGACAGGTTCTGCAGGCTCCCCCACTTGGTCCCTGTGCTGGAGGGGAAGCAGAGAAGGGGCTGGCAGCCTCATCCCTGCGGGACCTTCACTGAGCCTTCTTGGTCACTCTCTTGGTCTTCAGCATCACATAGGAGATGAACAGTCCTGGGATACACAGACCAGAAAGGCCACATAAGATCTAAGCTCAGGGCTGCTGGGAGGCCAGGGCATGACACAGCAGAGCCACCCACACACAGGGCTGTGAACCTACCCAACCATCCTCCAGGGAACCTGCTTATCTCCCTAGTCATTCGTCAAGGCATATGTCTACTCACATTCACTCAACAAACACCAACTGAGTGCCTGCCTCAAGCAAGATGCTGCATTTAGTGTTTCAGATTCCAAGGGGAACAAGATCCACCCATCTATCGATCACCCGGTCAACCACTTGTCTGTCCACCTACATACCTACCCACCTCCTCCTACACCTCACCCACCCACCCATCCATCCACCCATCATCCAGGCACCCGGCTGTTGACTGACTCATCCAAATGACTTTCTGAGCACAGCCTCAGTGCCACAGCCTGTTCTAGATGTGCAGTAATGATGGAGACACAGTCCCCATCCCTAGGAAGCCATGAGAGAGAGAGGTGCAGGAATTAGAAGCCAGGGTGACAAGAGGGTGACTGAGGTGTGAGCAGAGTGATGATGGGGTTGGGGCAGGAAAGAGGTAGACAGGTCATTGGAGTCCAAAAAGCCTGGGGCACCAGGAAACCCAGAGGTTACTGACTGGCAGCCTCGAAGGATGAACAGGAAAACCCCACGGGTGAGTTCGGGGCAAGCAGCTTCCAGCACCGCCAAAGTGTGGAAGCATGTTCAGAGGTGGGGTCTTCCCGAAACCCTGCCCAGGGTCAAGGGGAGGAGGTGATGACTTACCCACAAACAGGAGCAGCAGGAGGTCTGCAGCCAGTGGGATGGCGACAGCATAGGCTCGGGGCAGGAAATACTTGTGGATGACATGCTGACTGTCGATGAATGGCTGGCATCGAGGGAAGAGCTCTGGTGTGTCTTGCTTGCCTTGCCGAGCCCCCAAGCCCAAACGTCCCACCTCCTCCATCTAAGGGGCTGACCCATTCAGAGGACTGGGACTGCATTTGCTTTTCTTTAAGATTACGGCATTTGGGTGTCGTGGTTTGTTTCTTTCCTTAATTTCTTATTGGTATTTACCGGGCACTTGCTTTGGTGCCTGCTATAGGTTGGTGGTGGGGACAAGAGAACAGGGCACAAGAGACCTGCCCTAAGGCACCTCACAGCCTAGCAAATGGTACTTGAGGAATCCTCGACTGACTCCCAACCTGGGCCTCCAGGGCTTCTTCACTAATATTTTTTCTCTAAAGGATACCAAGTTCTGCACTTCCAGACACACTGCACTTCTTAAGCAATAACCAACAAGTTTTCCCACAAGAAAAAAATATCCTAAAGGCCTTCACAAATATCACTGGCGTTTGCCATGCCTAAGAGTCAGCAGGCTAACCCAGAAGGAACAGAACTCCCCCAAAAGTCAAAGCAAGCCGGAAACAGAGTTATAAGTGTAGCGGCTAAGGATGCAATCTTGGGCCAGATCCTTCTCCCCTAGCCTCAGCTATCTCATCTATAAAATGCGGTACCACTGGCATCTTCCTCATAGAGTTGTTCTGGAGAGTTCAAGAGATGAGGCAGGCAATGAAGCCAGCGCCGTGCCTAGAGCCTATATAGTAGTTGCTCTGGCGGTGCCAGGGCTCGGGGAAGGTGAGCAGCGGACGGGGAGAATGACATACCAAGAGAATCACCCAGGCGGTGTAGTAGGTGAAGATGATCAGGCTAACGGCGACGAGGCCGAGTCCCACCACCTGGTCTGTCCCCGTGGCCTGGAGAAAAGGGAGGTCTCAGCTGACGAAGTGACCCTCTATTTCGGCGCACTAATGGAAGCGGGGCGTCGCGGCCCGATCACGGTCTAAGCTTCCCATTCAACAGATGGTAGAGGGCTGACTAGGGATCAGTTTCTAGGCTGGGAGAGAATGCTAGGCCTCCGCGTTGTCGTCCGTACAATAGTGGGGGCGGGAGAGCAATCCCCGTTCCAAGTGCCCATGCCCCAGCTCCTGAGCAGACCCGGGACCCCACCCCCAGACGCCCCTATCTCCGGCACACGGTGCCAATCTCACCATTTCCCCGCGCGCTCAGCCACCCGAGCCGCAAGCCACATCCGGTTCCGGGTCCACGCTCTTCCGGCTTTGGACTGCGGAGCACGCCGGGAGTCGTAGTCCCCAGGCCTGCTCGGGCCCACCTCGTCGGAGACGAGCAGGAACCGCCTCCTCTTCTTTGCATATCGGCGAAGTGTAGTTCTCAAGAGCATTGTGGGGCCGGTTGCTGCCCGAATCTCTCTAGGGAATGGGACCGAGTTGGGGACCCAGACTCCCTGGCCTTCATGGCCACAGTCCTGTCGCCGCCCCACCAAAAGCCAATCTCTAAGTATCCCAGAGTCCCGGGGCCAGAGTGGGATGGGAGTGCGGGATCGGAAGTTCCATTTTTCAGATGGGAAAAGTGAGGCTCAGAGAAAGGTAGATCCCATTCCGAGTCAGTGGTGAAGCCGACACGGAAACCGGGTGCCCTACTTAGTCTGTAGGTGGGAGAGGTGCAGAGAACGTTCACTTTCCAGCCTAGGGTGGGCGGGGGAGGGTCTGTCCCTAGCCCGCATGGATGGGGAGGATTTGGTGGAGAGGAGGCGCCCTCCTCACCATCGCCCGGCCTCCCGGGCCACCCTTCGGATGTCCCCTCCCTTCCTTCACCGACTGTCTCTCGCAGCAGCCCAGACACGTTTCGGACCGGGACCCACGCACAGGCCCCTCCCCGGTCTTGGAAGGCCCTTCCTCTGAGAACAAAGAGATGTTGGGCCAGATCATCTTCCACGCTTCTTCAGCTCCGAGATAGGAACGCGGTCCCCCACCACTCACAGGCCGGCTGCTCCTCA
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Task1_train_13260
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This gene mutation involves DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Congenital muscular dystrophy with intellectual disability and severe epilepsy
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ACGGCAGAACCCAGGGGAAAAGGTGGCAGGGAGTCTGAGAGTGAGGTTGGGAGGACCAGCATCTTTTAGGCCCTGAGCAAGAAGGAGGTGACCGGAGTCTTCCAGGTATCCCTCCCTCCTAGCTTCTGGAAGTGGGAGTCGGGGAGGGGGCTCCAGTCAGTCAGGTGTAAGCTCCATGCCATGGGGACTCTGCAGGACAGGCAGGCTTGAGGAGCCACTGTGCCTGGACAGGTTCTGCAGGCTCCCCCACTTGGTCCCTGTGCTGGAGGGGAAGCAGAGAAGGGGCTGGCAGCCTCATCCCTGCGGGACCTTCACTGAGCCTTCTTGGTCACTCTCTTGGTCTTCAGCATCACATAGGAGATGAACAGTCCTGGGATACACAGACCAGAAAGGCCACATAAGATCTAAGCTCAGGGCTGCTGGGAGGCCAGGGCATGACACAGCAGAGCCACCCACACACAGGGCTGTGAACCTACCCAACCATCCTCCAGGGAACCTGCTTATCTCCCTAGTCATTCGTCAAGGCATATGTCTACTCACATTCACTCAACAAACACCAACTGAGTGCCTGCCTCAAGCAAGATGCTGCATTTAGTGTTTCAGATTCCAAGGGGAACAAGATCCACCCATCTATCGATCACCCGGTCAACCACTTGTCTGTCCACCTACATACCTACCCACCTCCTCCTACACCTCACCCACCCACCCATCCATCCACCCATCATCCAGGCACCCGGCTGTTGACTGACTCATCCAAATGACTTTCTGAGCACAGCCTCAGTGCCACAGCCTGTTCTAGATGTGCAGTAATGATGGAGACACAGTCCCCATCCCTAGGAAGCCATGAGAGAGAGAGGTGCAGGAATTAGAAGCCAGGGTGACAAGAGGGTGACTGAGGTGTGAGCAGAGTGATGATGGGGTTGGGGCAGGAAAGAGGTAGACAGGTCATTGGAGTCCAAAAAGCCTGGGGCACCAGGAAACCCAGAGGTTACTGACTGGCAGCCTCGAAGGATGAACAGGAAAACCCCACGGGTGAGTTCGGGGCAAGCAGCTTCCAGCACCGCCAAAGTGTGGAAGCATGTTCAGAGGTGGGGTCTTCCCGAAACCCTGCCCAGGGTCAAGGGGAGGAGGTGATGACTTACCCACAAACAGGAGCAGCAGGAGGCCTGCAGCCAGTGGGATGGCGACAGCATAGGCTCGGGGCAGGAAATACTTGTGGATGACATGCTGACTGTCGATGAATGGCTGGCATCGAGGGAAGAGCTCTGGTGTGTCTTGCTTGCCTTGCCGAGCCCCCAAGCCCAAACGTCCCACCTCCTCCATCTAAGGGGCTGACCCATTCAGAGGACTGGGACTGCATTTGCTTTTCTTTAAGATTACGGCATTTGGGTGTCGTGGTTTGTTTCTTTCCTTAATTTCTTATTGGTATTTACCGGGCACTTGCTTTGGTGCCTGCTATAGGTTGGTGGTGGGGACAAGAGAACAGGGCACAAGAGACCTGCCCTAAGGCACCTCACAGCCTAGCAAATGGTACTTGAGGAATCCTCGACTGACTCCCAACCTGGGCCTCCAGGGCTTCTTCACTAATATTTTTTCTCTAAAGGATACCAAGTTCTGCACTTCCAGACACACTGCACTTCTTAAGCAATAACCAACAAGTTTTCCCACAAGAAAAAAATATCCTAAAGGCCTTCACAAATATCACTGGCGTTTGCCATGCCTAAGAGTCAGCAGGCTAACCCAGAAGGAACAGAACTCCCCCAAAAGTCAAAGCAAGCCGGAAACAGAGTTATAAGTGTAGCGGCTAAGGATGCAATCTTGGGCCAGATCCTTCTCCCCTAGCCTCAGCTATCTCATCTATAAAATGCGGTACCACTGGCATCTTCCTCATAGAGTTGTTCTGGAGAGTTCAAGAGATGAGGCAGGCAATGAAGCCAGCGCCGTGCCTAGAGCCTATATAGTAGTTGCTCTGGCGGTGCCAGGGCTCGGGGAAGGTGAGCAGCGGACGGGGAGAATGACATACCAAGAGAATCACCCAGGCGGTGTAGTAGGTGAAGATGATCAGGCTAACGGCGACGAGGCCGAGTCCCACCACCTGGTCTGTCCCCGTGGCCTGGAGAAAAGGGAGGTCTCAGCTGACGAAGTGACCCTCTATTTCGGCGCACTAATGGAAGCGGGGCGTCGCGGCCCGATCACGGTCTAAGCTTCCCATTCAACAGATGGTAGAGGGCTGACTAGGGATCAGTTTCTAGGCTGGGAGAGAATGCTAGGCCTCCGCGTTGTCGTCCGTACAATAGTGGGGGCGGGAGAGCAATCCCCGTTCCAAGTGCCCATGCCCCAGCTCCTGAGCAGACCCGGGACCCCACCCCCAGACGCCCCTATCTCCGGCACACGGTGCCAATCTCACCATTTCCCCGCGCGCTCAGCCACCCGAGCCGCAAGCCACATCCGGTTCCGGGTCCACGCTCTTCCGGCTTTGGACTGCGGAGCACGCCGGGAGTCGTAGTCCCCAGGCCTGCTCGGGCCCACCTCGTCGGAGACGAGCAGGAACCGCCTCCTCTTCTTTGCATATCGGCGAAGTGTAGTTCTCAAGAGCATTGTGGGGCCGGTTGCTGCCCGAATCTCTCTAGGGAATGGGACCGAGTTGGGGACCCAGACTCCCTGGCCTTCATGGCCACAGTCCTGTCGCCGCCCCACCAAAAGCCAATCTCTAAGTATCCCAGAGTCCCGGGGCCAGAGTGGGATGGGAGTGCGGGATCGGAAGTTCCATTTTTCAGATGGGAAAAGTGAGGCTCAGAGAAAGGTAGATCCCATTCCGAGTCAGTGGTGAAGCCGACACGGAAACCGGGTGCCCTACTTAGTCTGTAGGTGGGAGAGGTGCAGAGAACGTTCACTTTCCAGCCTAGGGTGGGCGGGGGAGGGTCTGTCCCTAGCCCGCATGGATGGGGAGGATTTGGTGGAGAGGAGGCGCCCTCCTCACCATCGCCCGGCCTCCCGGGCCACCCTTCGGATGTCCCCTCCCTTCCTTCACCGACTGTCTCTCGCAGCAGCCCAGACACGTTTCGGACCGGGACCCACGCACAGGCCCCTCCCCGGTCTTGGAAGGCCCTTCCTCTGAGAACAAAGAGATGTTGGGCCAGATCATCTTCCACGCTTCTTCAGCTCCGAGATAGGAACGCGGTCCCCCACCACTCACAGGCCGGCTGCTCCTCACCCATCCGGTCTCACTGGGACGCCACGTTCCTCAGGGAAGCCAGTCGGGAACGTTTTTTTTGTTTGTTTGTTTGTTTTTGAGACGGAGTTCTATGTTATCCAGGCTGGTGTCGAACTCCTGGGCTCAAGCGATCCTCCCAACTCGGCCTCCAAAAGTTTACAGGCGTGAGCCACGGTGCCCAGCCTCCTGTGCCTTTTAATTCACTGATGCAATTGTTGATCCAGCCCTGTCAGCCCCGAGGGTAGGGTCTGAGGTTGCTGCTGTATCCCTGGCACTCAGTGGAGGCTTGGCCCAAAGAAAGAGGTTTTTTTGTTTTTTTTTTTTTTTCCCAAGACGGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTACCGAGTAGCTGGGATTACAGGCACGTGTCAACACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCTAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCGAAAGTGCCTGGATTACAGGCGTAAGCCACTGCGCTCGGCCCAAAGTAAGAGCTTTGAACCTGTCAGCTTTAAGATTGAGTGATTGTTTAGATACTGGAGTACAGCATCTGGACTCCAGGCCTCCCTGAGGGGTTATGTGGAGGCCTTTGGCCTGCTGTCCCCACCTGGGGAGTTTGGGGAGAGATGTGCTTTGAGCCTGGCATGGTTCGCTCCCTCTGGCATTTATCTCCTTGGTTGGTTGGAAGCCCATCTCCAACTATGGAGTCTGCCCTCCCAAAGCTGACAAGAGCAACTTTTTTTTTTTTTTTT
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ACGGCAGAACCCAGGGGAAAAGGTGGCAGGGAGTCTGAGAGTGAGGTTGGGAGGACCAGCATCTTTTAGGCCCTGAGCAAGAAGGAGGTGACCGGAGTCTTCCAGGTATCCCTCCCTCCTAGCTTCTGGAAGTGGGAGTCGGGGAGGGGGCTCCAGTCAGTCAGGTGTAAGCTCCATGCCATGGGGACTCTGCAGGACAGGCAGGCTTGAGGAGCCACTGTGCCTGGACAGGTTCTGCAGGCTCCCCCACTTGGTCCCTGTGCTGGAGGGGAAGCAGAGAAGGGGCTGGCAGCCTCATCCCTGCGGGACCTTCACTGAGCCTTCTTGGTCACTCTCTTGGTCTTCAGCATCACATAGGAGATGAACAGTCCTGGGATACACAGACCAGAAAGGCCACATAAGATCTAAGCTCAGGGCTGCTGGGAGGCCAGGGCATGACACAGCAGAGCCACCCACACACAGGGCTGTGAACCTACCCAACCATCCTCCAGGGAACCTGCTTATCTCCCTAGTCATTCGTCAAGGCATATGTCTACTCACATTCACTCAACAAACACCAACTGAGTGCCTGCCTCAAGCAAGATGCTGCATTTAGTGTTTCAGATTCCAAGGGGAACAAGATCCACCCATCTATCGATCACCCGGTCAACCACTTGTCTGTCCACCTACATACCTACCCACCTCCTCCTACACCTCACCCACCCACCCATCCATCCACCCATCATCCAGGCACCCGGCTGTTGACTGACTCATCCAAATGACTTTCTGAGCACAGCCTCAGTGCCACAGCCTGTTCTAGATGTGCAGTAATGATGGAGACACAGTCCCCATCCCTAGGAAGCCATGAGAGAGAGAGGTGCAGGAATTAGAAGCCAGGGTGACAAGAGGGTGACTGAGGTGTGAGCAGAGTGATGATGGGGTTGGGGCAGGAAAGAGGTAGACAGGTCATTGGAGTCCAAAAAGCCTGGGGCACCAGGAAACCCAGAGGTTACTGACTGGCAGCCTCGAAGGATGAACAGGAAAACCCCACGGGTGAGTTCGGGGCAAGCAGCTTCCAGCACCGCCAAAGTGTGGAAGCATGTTCAGAGGTGGGGTCTTCCCGAAACCCTGCCCAGGGTCAAGGGGAGGAGGTGATGACTTACCCACAAACAGGAGCAGCAGGAGGCCTGCAGCCAGTGGGATGGCGACAGCATAGGCTCGGGGCAGGAAATACTTGTGGATGACATGCTGACTGTCGATGAATGGCTGGCATCGAGGGAAGAGCTCTGGTGTGTCTTGCTTGCCTTGCCGAGCCCCCAAGCCCAAACGTCCCACCTCCTCCATCTAAGGGGCTGACCCATTCAGAGGACTGGGACTGCATTTGCTTTTCTTTAAGATTACGGCATTTGGGTGTCGTGGTTTGTTTCTTTCCTTAATTTCTTATTGGTATTTACCGGGCACTTGCTTTGGTGCCTGCTATAGGTTGGTGGTGGGGACAAGAGAACAGGGCACAAGAGACCTGCCCTAAGGCACCTCACAGCCTAGCAAATGGTACTTGAGGAATCCTCGACTGACTCCCAACCTGGGCCTCCAGGGCTTCTTCACTAATATTTTTTCTCTAAAGGATACCAAGTTCTGCACTTCCAGACACACTGCACTTCTTAAGCAATAACCAACAAGTTTTCCCACAAGAAAAAAATATCCTAAAGGCCTTCACAAATATCACTGGCGTTTGCCATGCCTAAGAGTCAGCAGGCTAACCCAGAAGGAACAGAACTCCCCCAAAAGTCAAAGCAAGCCGGAAACAGAGTTATAAGTGTAGCGGCTAAGGATGCAATCTTGGGCCAGATCCTTCTCCCCTAGCCTCAGCTATCTCATCTATAAAATGCGGTACCACTGGCATCTTCCTCATAGAGTTGTTCTGGAGAGTTCAAGAGATGAGGCAGGCAATGAAGCCAGCGCCGTGCCTAGAGCCTATATAGTAGTTGCTCTGGCGGTGCCAGGGCTCGGGGAAGGTGAGCAGCGGACGGGGAGAATGACATACCAAGAGAATCACCCAGGCGGTGTAGCAGGTGAAGATGATCAGGCTAACGGCGACGAGGCCGAGTCCCACCACCTGGTCTGTCCCCGTGGCCTGGAGAAAAGGGAGGTCTCAGCTGACGAAGTGACCCTCTATTTCGGCGCACTAATGGAAGCGGGGCGTCGCGGCCCGATCACGGTCTAAGCTTCCCATTCAACAGATGGTAGAGGGCTGACTAGGGATCAGTTTCTAGGCTGGGAGAGAATGCTAGGCCTCCGCGTTGTCGTCCGTACAATAGTGGGGGCGGGAGAGCAATCCCCGTTCCAAGTGCCCATGCCCCAGCTCCTGAGCAGACCCGGGACCCCACCCCCAGACGCCCCTATCTCCGGCACACGGTGCCAATCTCACCATTTCCCCGCGCGCTCAGCCACCCGAGCCGCAAGCCACATCCGGTTCCGGGTCCACGCTCTTCCGGCTTTGGACTGCGGAGCACGCCGGGAGTCGTAGTCCCCAGGCCTGCTCGGGCCCACCTCGTCGGAGACGAGCAGGAACCGCCTCCTCTTCTTTGCATATCGGCGAAGTGTAGTTCTCAAGAGCATTGTGGGGCCGGTTGCTGCCCGAATCTCTCTAGGGAATGGGACCGAGTTGGGGACCCAGACTCCCTGGCCTTCATGGCCACAGTCCTGTCGCCGCCCCACCAAAAGCCAATCTCTAAGTATCCCAGAGTCCCGGGGCCAGAGTGGGATGGGAGTGCGGGATCGGAAGTTCCATTTTTCAGATGGGAAAAGTGAGGCTCAGAGAAAGGTAGATCCCATTCCGAGTCAGTGGTGAAGCCGACACGGAAACCGGGTGCCCTACTTAGTCTGTAGGTGGGAGAGGTGCAGAGAACGTTCACTTTCCAGCCTAGGGTGGGCGGGGGAGGGTCTGTCCCTAGCCCGCATGGATGGGGAGGATTTGGTGGAGAGGAGGCGCCCTCCTCACCATCGCCCGGCCTCCCGGGCCACCCTTCGGATGTCCCCTCCCTTCCTTCACCGACTGTCTCTCGCAGCAGCCCAGACACGTTTCGGACCGGGACCCACGCACAGGCCCCTCCCCGGTCTTGGAAGGCCCTTCCTCTGAGAACAAAGAGATGTTGGGCCAGATCATCTTCCACGCTTCTTCAGCTCCGAGATAGGAACGCGGTCCCCCACCACTCACAGGCCGGCTGCTCCTCACCCATCCGGTCTCACTGGGACGCCACGTTCCTCAGGGAAGCCAGTCGGGAACGTTTTTTTTGTTTGTTTGTTTGTTTTTGAGACGGAGTTCTATGTTATCCAGGCTGGTGTCGAACTCCTGGGCTCAAGCGATCCTCCCAACTCGGCCTCCAAAAGTTTACAGGCGTGAGCCACGGTGCCCAGCCTCCTGTGCCTTTTAATTCACTGATGCAATTGTTGATCCAGCCCTGTCAGCCCCGAGGGTAGGGTCTGAGGTTGCTGCTGTATCCCTGGCACTCAGTGGAGGCTTGGCCCAAAGAAAGAGGTTTTTTTGTTTTTTTTTTTTTTTCCCAAGACGGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTACCGAGTAGCTGGGATTACAGGCACGTGTCAACACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCTAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCGAAAGTGCCTGGATTACAGGCGTAAGCCACTGCGCTCGGCCCAAAGTAAGAGCTTTGAACCTGTCAGCTTTAAGATTGAGTGATTGTTTAGATACTGGAGTACAGCATCTGGACTCCAGGCCTCCCTGAGGGGTTATGTGGAGGCCTTTGGCCTGCTGTCCCCACCTGGGGAGTTTGGGGAGAGATGTGCTTTGAGCCTGGCATGGTTCGCTCCCTCTGGCATTTATCTCCTTGGTTGGTTGGAAGCCCATCTCCAACTATGGAGTCTGCCCTCCCAAAGCTGACAAGAGCAACTTTTTTTTTTTTTTTT
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Task1_train_13261
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The following genetic variant occurs in SLC25A25 (solute carrier family 25 member 25) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Nephrolithiasis
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CCCCTTGCCCGTACCTAGTACTTCTTGTGCCAGGAGCCCGGCTTGGAAGAGCTGCCTCCTTTCTCTCCCCAGTCTGCCTTGCTGGGCCTCCCTGTGTTGCACAGAGACAAAGGAAGCAGGTGGTTCAGGGCAGAATGCCTCGGGCTTGGACTCTGCCCAGGGCACCACCACAGCTGCCTCCCTCCCTCTTGTGGCCTTGAGCAAACCCCTTTCCCTCCCAGGACTTCCCCTCCTCTGTGAAAATAGGGGCTTGAACAACTGCCTCATCCTTTTGTTTTTTTAGCAGAATTATCAGGAATGTTGTAGAGATTGAAAGCAGGCCTTGGGTGAAATCAAATGCCTGGCGTGTGCCTTTAAACCAGCATGGGTGGGGCAGCAGGAGAGAGAGGTTGGCTGTGGTTTGATCATTGTCTAAGCTGAGTGGGCATTCATTCTATTTTTTAATATGTCTTAAGTTTTTTTAATAATGAAAAACTTTGATTTTTAAAAATTATTATTATTATTATTATTATTATTATTATTATTATATTTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTAGAGTACAGTGGTATGATCTCAGCTCACTGCAACCTCCCTCACTGGGTTCAAGCAATTCTACAGCCTCAGCCTCCCTAGTAGCTGGGATTATTACAGGCATGCGCTATCACCCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCATCATGTTGGCCAGGCTGGTCTCACACTCCTCACCTCATGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCAACACTCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAAAATAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGGGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACTGGTGCCTGCCACCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTGGGCTGGTCTCGAACTCCTGAACTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCTTGATTTTTTTTTTAAGTCATCTTTATGGAGATGTTCAGGACAAGGCTGGCAACCAGCAGATACCCAGTACGATGGAGCTGAGCCTCACTTAGCCGTGTTGGGTTACTTTGGGCTCATGATTCCAAGCTTGTCTTCAAAATGCACGGAAGAAAGGGCCTTCCCTTTGGCCGCAGCCGGTTGGCCAGCAGAGGCTCTTGGCCGGGTGAGGCAGCCTGTGGCCCCCCGGGTCCGTCTGACTGTTCGGTCCTCCCTCCCAGGTCCATGCCTCCCGCAGCAACAACATGGGCATCGTTGGTGGCTTCACTCAGATGATTCGAGAAGGAGGGGCCAGGTCACTCTGGCGGGGCAATGGCATCAACGTCCTCAAAATTGCCCCCGAATCAGCCATCAAATTCATGGCCTATGAGCAGGTGAGGACCCAGCTCCTCAGGAGGGTCACCGGCCAGTGGCTACTCACTGCCTGGACTTGCTGGCTTTCCCTGGGCTGAGCTCCCTGACACTTGGAGCCAGCCGTGGTACCCCAGGGACAGCAGGGCGAGGCAGGAGGCCCAGGCTCACCACGAGTTCCTTACATTTCTGGGTAGCATAAAATGTGCCGGGGACTCCTGGAAGGGAGGGGCAGCAGCAGGTGCCCCAACCTCTGGGTATATCAGGTGGTTTGTTTGTTCCTGGTTCTAGATCAAGCGCCTTGTTGGTAGTGACCAGGAGACTCTGAGGATTCACGAGAGGCTTGTGGCAGGGTCCTTGGCAGGGGCCATCGCCCAGAGCAGCATCTACCCAATGGAGGTGAGGGGCCGCCTGGGTCCTGGGGCGGGCAGTGGGCACAGGACTGGGGAGAGGCACAGGCTGTGCTCACGCGTCCCGCTGCTCCTGTTGTGCAGGTCCTGAAGACCCGGATGGCGCTGCGGAAGACAGGCCAGTACTCAGGAATGCTGGACTGCGCCAGGAGGATCCTGGCCAGAGAGGGGGTGGCCGCCTTCTACAAAGGCTATGTCCCCAACATGCTGGGCATCATCCCCTATGCCGGCATCGACCTTGCAGTCTACGAGGTGAGGCCCAAGCTGGACAGATTTAGAAACCTCCTCCCAGCACACCTCCACCTGCTGTCTCCCTCCTTGACGGACGCGTGGTTAGTGCAGGAAACTGCATCAAAGACTGCGCCTCCTTCCTGCTCTTCTGTTTACTGCAGCTTTCCTTCACCCTGCCTGCCCCTGGCAGACCCCAGCAGCTCCTGTGAGCCCTGCACCCAGGCTCTGCATCCCCAGAGGCTCAGCAGGCAGATCCCCAGAGCAGGGTGGCCCCCAGGAGCTCACAGGCCCCAGCACACTCTAGACAGACCCCAGAAGTCAGCCCTTCTGTGTGGGGAAGGAGGTGTTCCCTCTACCTTGTCCCGGAATTCCCAGTGACAGCAGAAACAGGGCAGCCAGGCTAGGAGCCCAGCCAGGCCCCAGGCGCGGCAGTCGGGTTCCAGTGGCCTGAGGACCCAGTAACAGCCCCGTCTCTTGCTGCCTCACTAGCCCTTCCTAGGGCTTATCCCATGCTCCCTTCTCCTTCTAGACGCTCAAGAATGCCTGGCTGCAGCACTATGCAGTGAACAGCGCGGACCCCGGCGTGTTTGTGCTCCTGGCCTGTGGCACCATGTCCAGTACCTGTGGCCAGCTGGCCAGCTACCCCCTGGCCCTAGTCAGGACCCGGATGCAGGCGCAAGGTAAGGCTGGCCCTGGACAGTCCCCTGGGAGGTCGGGGGGAGCGGACAGAAGCATCTGACTGGTGGCCTCCATCCTGCAGCCTCTATTGAGGGCGCTCCGGAGGTGACCATGAGCAGCCTCTTCAAACATATCCTGCGGACCGAGGGGGCCTTCGGGCTGTACAGGGGGCTGGCCCCCAACTTCATGAAGGTCATCCCAGCTGTGAGCATCAGCTACGTGGTCTACGAGAACCTGAAGATCACCCTGGGCGTGCAGTCGCGGTGACGGGGGGAGGGCCGCCCGGCAGTGGACTCGCTGATCCTGGGCCGCAGCCTGGGGTGTGCAGCCATCTCATTCTGTGAATGTGCCAACACTAAGCTGTCTCGAGCCAAGCTGTGAAAACCCTAGACGCACCCGCAGGGAGGGTGGGGAGAGCTGGCAGGCCCAGGGCTTGTCCTGCTGACCCCAGCAGACCCTCCTGTTGGTTCCAGCGAAGACCACAGGCATTCCTTAGGGTCCAGGGTCAGCAGGCTCCGGGCTCACATGTGTAAGGACAGGACATTTTCTGCAGTGCCTGCCAATAGCGAGCTTGGAGCCTGGAGGCCGGCTTAGTTCTTCCATTTCACCCTTGCAGCCAGCTGTTGGCCACGGCCCCTGCCCTCTGGTCTGCCGTGCATCTCCCTGTGCCCTCTTGCTGCCTGCCTGTCTGCTGAGGTAAGGTGGGAGGAGGGCTACAGCCCACATCCCACCCCCTCGTCCAATCCCATAATCCATGATGAAAGGTGAGGTCACGTGGCCTCCCAGGCCTGACTTCCCAACCTACAGCATTGACGCCAACTTGGCTGTGAAGGAAGAGGAAAGGATCTGGCCTTGTGGTCACTGGCATCTGAGCCCTGCTGATGGCTGGGGCTCTCGGGCATGCTTGGGAGTGCAGGGGGCTCGGGCTGCCTGGCCTGGCTGCACAGAAGGCAAGTGCTGGGGCTCATGGTGCTCTGAGCTGGCCTGGACCCTGTCAGGATGGGCCCCACCTCAGAACCAAACTCACTGTCCCCACTGTGGCATGAGGGCAGTGGAGCACCATGTTTGAGGGCGAAGGGCAGAGCGTTTGTGTGTTCTGGGGAGGGAAGGAAAAGGTGTTGGAGGCCTTAATTATGGACTGTTGGGAAAAGGGTTTTGTCCAGAAGGACAAGCCGGACAAATGAGCGACTTCTGTGCTTCCAGAGGAAGACGAGGGAGCAGGAGCTTGGCTGACTGCTCAGAGTCTGTTCTGACGCCCTGG
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CCCCTTGCCCGTACCTAGTACTTCTTGTGCCAGGAGCCCGGCTTGGAAGAGCTGCCTCCTTTCTCTCCCCAGTCTGCCTTGCTGGGCCTCCCTGTGTTGCACAGAGACAAAGGAAGCAGGTGGTTCAGGGCAGAATGCCTCGGGCTTGGACTCTGCCCAGGGCACCACCACAGCTGCCTCCCTCCCTCTTGTGGCCTTGAGCAAACCCCTTTCCCTCCCAGGACTTCCCCTCCTCTGTGAAAATAGGGGCTTGAACAACTGCCTCATCCTTTTGTTTTTTTAGCAGAATTATCAGGAATGTTGTAGAGATTGAAAGCAGGCCTTGGGTGAAATCAAATGCCTGGCGTGTGCCTTTAAACCAGCATGGGTGGGGCAGCAGGAGAGAGAGGTTGGCTGTGGTTTGATCATTGTCTAAGCTGAGTGGGCATTCATTCTATTTTTTAATATGTCTTAAGTTTTTTTAATAATGAAAAACTTTGATTTTTAAAAATTATTATTATTATTATTATTATTATTATTATTATTATATTTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTAGAGTACAGTGGTATGATCTCAGCTCACTGCAACCTCCCTCACTGGGTTCAAGCAATTCTACAGCCTCAGCCTCCCTAGTAGCTGGGATTATTACAGGCATGCGCTATCACCCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCATCATGTTGGCCAGGCTGGTCTCACACTCCTCACCTCATGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCAACACTCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAAAATAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGGGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACTGGTGCCTGCCACCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTGGGCTGGTCTCGAACTCCTGAACTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCTTGATTTTTTTTTTAAGTCATCTTTATGGAGATGTTCAGGACAAGGCTGGCAACCAGCAGATACCCAGTACGATGGAGCTGAGCCTCACTTAGCCGTGTTGGGTTACTTTGGGCTCATGATTCCAAGCTTGTCTTCAAAATGCACGGAAGAAAGGGCCTTCCCTTTGGCCGCAGCCGGTTGGCCAGCAGAGGCTCTTGGCCGGGTGAGGCAGCCTGTGGCCCCCCGGGTCCGTCTGACTGTTCGGTCCTCCCTCCCAGGTCCATGCCTCCCGCAGCAACAACATGGGCATCGTTGGTGGCTTCACTCAGATGATTCGAGAAGGAGGGGCCAGGTCACTCTGGCGGGGCAATGGCATCAACGTCCTCAAAATTGCCCCCGAATCAGCCATCAAATTCATGGCCTATGAGCAGGTGAGGACCCAGCTCCTCAGGAGGGTCACCGGCCAGTGGCTACTCACTGCCTGGACTTGCTGGCTTTCCCTGGGCTGAGCTCCCTGACACTTGGAGCCAGCCGTGGTACCCCAGGGACAGCAGGGCGAGGCAGGAGGCCCAGGCTCACCACGAGTTCCTTACATTTCTGGGTAGCATAAAATGTGCCGGGGACTCCTGGAAGGGAGGGGCAGCAGCAGGTGCCCCAACCTCTGGGTATATCAGGTGGTTTGTTTGTTCCTGGTTCTAGATCAAGCGCCTTGTTGGTAGTGACCAGGAGACTCTGAGGATTCACGAGAGGCTTGTGGCAGGGTCCTTGGCAGGGGCCATCGCCCAGAGCAGCATCTACCCAATGGAGGTGAGGGGCCGCCTGGGTCCTGGGGCGGGCAGTGGGCACAGGACTGGGGAGAGGCACAGGCTGTGCTCACGCGTCCCGCTGCTCCTGTTGTGCAGGTCCTGAAGACCCGGATGGCGCTGCGGAAGACAGGCCACTACTCAGGAATGCTGGACTGCGCCAGGAGGATCCTGGCCAGAGAGGGGGTGGCCGCCTTCTACAAAGGCTATGTCCCCAACATGCTGGGCATCATCCCCTATGCCGGCATCGACCTTGCAGTCTACGAGGTGAGGCCCAAGCTGGACAGATTTAGAAACCTCCTCCCAGCACACCTCCACCTGCTGTCTCCCTCCTTGACGGACGCGTGGTTAGTGCAGGAAACTGCATCAAAGACTGCGCCTCCTTCCTGCTCTTCTGTTTACTGCAGCTTTCCTTCACCCTGCCTGCCCCTGGCAGACCCCAGCAGCTCCTGTGAGCCCTGCACCCAGGCTCTGCATCCCCAGAGGCTCAGCAGGCAGATCCCCAGAGCAGGGTGGCCCCCAGGAGCTCACAGGCCCCAGCACACTCTAGACAGACCCCAGAAGTCAGCCCTTCTGTGTGGGGAAGGAGGTGTTCCCTCTACCTTGTCCCGGAATTCCCAGTGACAGCAGAAACAGGGCAGCCAGGCTAGGAGCCCAGCCAGGCCCCAGGCGCGGCAGTCGGGTTCCAGTGGCCTGAGGACCCAGTAACAGCCCCGTCTCTTGCTGCCTCACTAGCCCTTCCTAGGGCTTATCCCATGCTCCCTTCTCCTTCTAGACGCTCAAGAATGCCTGGCTGCAGCACTATGCAGTGAACAGCGCGGACCCCGGCGTGTTTGTGCTCCTGGCCTGTGGCACCATGTCCAGTACCTGTGGCCAGCTGGCCAGCTACCCCCTGGCCCTAGTCAGGACCCGGATGCAGGCGCAAGGTAAGGCTGGCCCTGGACAGTCCCCTGGGAGGTCGGGGGGAGCGGACAGAAGCATCTGACTGGTGGCCTCCATCCTGCAGCCTCTATTGAGGGCGCTCCGGAGGTGACCATGAGCAGCCTCTTCAAACATATCCTGCGGACCGAGGGGGCCTTCGGGCTGTACAGGGGGCTGGCCCCCAACTTCATGAAGGTCATCCCAGCTGTGAGCATCAGCTACGTGGTCTACGAGAACCTGAAGATCACCCTGGGCGTGCAGTCGCGGTGACGGGGGGAGGGCCGCCCGGCAGTGGACTCGCTGATCCTGGGCCGCAGCCTGGGGTGTGCAGCCATCTCATTCTGTGAATGTGCCAACACTAAGCTGTCTCGAGCCAAGCTGTGAAAACCCTAGACGCACCCGCAGGGAGGGTGGGGAGAGCTGGCAGGCCCAGGGCTTGTCCTGCTGACCCCAGCAGACCCTCCTGTTGGTTCCAGCGAAGACCACAGGCATTCCTTAGGGTCCAGGGTCAGCAGGCTCCGGGCTCACATGTGTAAGGACAGGACATTTTCTGCAGTGCCTGCCAATAGCGAGCTTGGAGCCTGGAGGCCGGCTTAGTTCTTCCATTTCACCCTTGCAGCCAGCTGTTGGCCACGGCCCCTGCCCTCTGGTCTGCCGTGCATCTCCCTGTGCCCTCTTGCTGCCTGCCTGTCTGCTGAGGTAAGGTGGGAGGAGGGCTACAGCCCACATCCCACCCCCTCGTCCAATCCCATAATCCATGATGAAAGGTGAGGTCACGTGGCCTCCCAGGCCTGACTTCCCAACCTACAGCATTGACGCCAACTTGGCTGTGAAGGAAGAGGAAAGGATCTGGCCTTGTGGTCACTGGCATCTGAGCCCTGCTGATGGCTGGGGCTCTCGGGCATGCTTGGGAGTGCAGGGGGCTCGGGCTGCCTGGCCTGGCTGCACAGAAGGCAAGTGCTGGGGCTCATGGTGCTCTGAGCTGGCCTGGACCCTGTCAGGATGGGCCCCACCTCAGAACCAAACTCACTGTCCCCACTGTGGCATGAGGGCAGTGGAGCACCATGTTTGAGGGCGAAGGGCAGAGCGTTTGTGTGTTCTGGGGAGGGAAGGAAAAGGTGTTGGAGGCCTTAATTATGGACTGTTGGGAAAAGGGTTTTGTCCAGAAGGACAAGCCGGACAAATGAGCGACTTCTGTGCTTCCAGAGGAAGACGAGGGAGCAGGAGCTTGGCTGACTGCTCAGAGTCTGTTCTGACGCCCTGG
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Task1_train_13262
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This mutation is located in gene DNM1, LOC113839516 (dynamin 1| H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:130980103-130981059 and GRCh37_chr9:130981060-130982015) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Developmental and epileptic encephalopathy, 31A
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GGATGACTTTGGGACCTCTCAGTCCAGTCCTTCAAAGGCGGCTCGGTTCACAGGGGGCTGAAGGGCAGGGGAGTGTCACTGCAGAGTCAAATATATCCGAGACCAGGGTCTGCTCTGCCAGATACTGGCTGTGCAACCTGAATGTCTCTAAGGTGCAGCTCCCTCATCTGCAAAATGGGGGTAATAACAGCACCTGCCTCATGGGGCTACAGTATGGAGCCCCACTAAGCGCCTGGCATGCAGTAGGCACTAAGAAGCATGAGTTTTTTTGTTTCTTTGTGGGTTTTTTTGAGGTGGAGTTTTGCTCTTGTCGCCTAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACCGTAACCTCCGCCTCCCGGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGTGCCTGACACCCCGCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATGAGTCCTTTTCCTTGCCACCTCCTTCCCCACTCTTCTTCAACCCTAGCCATATGGAGCCTGGAGAAGGGGAAGTGAGATGCTGCCCTGCCCCACAGCGGAAGGGAGGGGAGAAGTTACAGCTCTGTTTCCTGGGATCCACTCTGTGGGCATTGGACACATAGGCATGTGGGAGACCCCATGCCTCAGTTTTCTGGGGCTGAATGGCCGTGGCTGAGTTGGGGCAGGGACTTCCTATTGGTTCAAAACCAACACAGGACGTATCTAGGAGTTGATCCAGTCTCTTGGCAGCTCAGATGCATAAATTCTGTGACCCAGGCGACTTGAGGAAAAGTATTTTCCACCTTTCTGGGCTGCCATATGCTCTTAGTTACCTGAAGCCCCTGGGCTAAGGAGCGGTGGAGCCAGCACTTTGGAAGGAGCTTTGGCTTTCCCAGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTTCTGCTTGGGTGTGTCTAGGGGGTTCTATTACCGGTGGGAGATGAAAACCCCCAGGTGGGGTTCCAGACCTTGATGCCTACTGCCCTTCCCCTGCCCGCTTCTGGAGCAGAATATGCCGAGTTCCTGCACTGCAAGGGAAAGAAATTCACCGACTTCGAGGAGGTGCGCCTTGAGATCGAGGCCGAGACCGACAGGGTCACCGGCACCAACAAGGGCATCTCGCCGGTGCCTATCAACCTCCGCGTCTACTCGCCGCACGGTGAGGACCCTGGCCCCGCCCTAACCTCTAAGAATCATTTTCTTGGCCACGCACCTCTGCGTGCCTCGCTCCTCCTGCAGACTCCGCCCCTAGAATGACCCTGCCTCTGCATCATCCTATTCCAAGCTCCACCCTGCCGTGATTCCGCCCACTTCCGGCCACGCCTCCAACAGACTGCCACTTTCGCCCTGAGATTTCCTAGTCCCACCCACCTGCCACCCTGCTCCCAAGCAGCTTCTCTAACCCCGCCCTATTCTTTAACCTCGCCCGCGGCCACGCCCCTCGCCTTGAGCCCGCCCTCTCGCCGCCCTGTCCAGTGCTGAACCTGACCCTGGTGGACCTGCCCGGAATGACCAAGGTCCCGGTGGGGGACCAACCTCCCGACATCGAGTTCCAGATCCGAGACATGCTTATGCAGTTTGTCACCAAGGAGAACTGCCTCATCCTGGCCGTGTCCCCCGCCAACTCTGACCTGGCCAATTCTGACGCCCTCAAGGTCGCCAAGGAGGTGGACCCCCAGGGTAGGTTCCCACCCGGTGGCCAATGCACAAAACCCCAGGCTTGCAGGCTGTCTATTCTTAGTGTAAAGGGGAGCCTCTGAACGGTCTAAGAATAGCGGTGGGATCAGATTTGTACCTTTAAAAATCACTTTGGGGGTCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGAGGATTGCTTGAGCCCAGGAGTTCGAGACAAGGCTGGGCAACCTAGTGAGACCCCATTTCTACAAAAAATTTAAAAATTAGCCGGGCACCGTGGTGCACGCTTGTGGTCCCAGCTACTCGTGAGGCTGAGGCCAGAGAATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCCTACTCGCACCACTGCAGTCCAGCATGGGCAAGAGTGAGACCCTGTCTCAAAAAAGAAAAAAAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAACTTGGGAGGATCGCTTGAAGCCAGGAGTTGGAAACCAGCCTGGCAACAAAGCGAGATCCCATCTCTAACAAATAAAAAAACAAGAAGAATAAATAAAAATCATTTTGGCTACTCTGTGGAAAATGAATAAGGGGGAAAGAGAGGAGGCAGTGAGCAGGCAGGGGGCCGAGGAGAGCAGGGGGATGGGAGTGGGAGTGCATGGAATTGTGTGTGAGAGCGGGTGCAGCTGTAGACGGCCCTCCTGCTGGTGCACCCAGGCCAGCGCACCATCGGGGTCATCACCAAGCTGGACCTGATGGACGAGGGCACAGATGCCCGTGATGTGCTGGAGAACAAGCTGCTCCCCCTGCGCAGAGGTAAGCAGGCCATGCCCCTCAACCACTCCCCAGCCCTTCCCCACCCTTCCCCTCCTCTTGAGGCTGGTTGCCCTGACCTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACA
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GGATGACTTTGGGACCTCTCAGTCCAGTCCTTCAAAGGCGGCTCGGTTCACAGGGGGCTGAAGGGCAGGGGAGTGTCACTGCAGAGTCAAATATATCCGAGACCAGGGTCTGCTCTGCCAGATACTGGCTGTGCAACCTGAATGTCTCTAAGGTGCAGCTCCCTCATCTGCAAAATGGGGGTAATAACAGCACCTGCCTCATGGGGCTACAGTATGGAGCCCCACTAAGCGCCTGGCATGCAGTAGGCACTAAGAAGCATGAGTTTTTTTGTTTCTTTGTGGGTTTTTTTGAGGTGGAGTTTTGCTCTTGTCGCCTAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACCGTAACCTCCGCCTCCCGGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGTGCCTGACACCCCGCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATGAGTCCTTTTCCTTGCCACCTCCTTCCCCACTCTTCTTCAACCCTAGCCATATGGAGCCTGGAGAAGGGGAAGTGAGATGCTGCCCTGCCCCACAGCGGAAGGGAGGGGAGAAGTTACAGCTCTGTTTCCTGGGATCCACTCTGTGGGCATTGGACACATAGGCATGTGGGAGACCCCATGCCTCAGTTTTCTGGGGCTGAATGGCCGTGGCTGAGTTGGGGCAGGGACTTCCTATTGGTTCAAAACCAACACAGGACGTATCTAGGAGTTGATCCAGTCTCTTGGCAGCTCAGATGCATAAATTCTGTGACCCAGGCGACTTGAGGAAAAGTATTTTCCACCTTTCTGGGCTGCCATATGCTCTTAGTTACCTGAAGCCCCTGGGCTAAGGAGCGGTGGAGCCAGCACTTTGGAAGGAGCTTTGGCTTTCCCAGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTTCTGCTTGGGTGTGTCTAGGGGGTTCTATTACCGGTGGGAGATGAAAACCCCCAGGTGGGGTTCCAGACCTTGATGCCTACTGCCCTTCCCCTGCCCGCTTCTGGAGCAGAATATGCCGAGTTCCTGCACTGCAAGGGAAAGAAATTCACCGACTTCGAGGAGGTGCGCCTTGAGATCGAGGCCGAGACCGACAGGGTCACCGGCACCAACAAGGGCATCTCGCCGGTGCCTATCAACCTCCGCGTCTACTCGCCGCACGGTGAGGACCCTGGCCCCGCCCTAACCTCTAAGAATCATTTTCTTGGCCACGCACCTCTGCGTGCCTCGCTCCTCCTGCAGACTCCGCCCCTAGAATGACCCTGCCTCTGCATCATCCTATTCCAAGCTCCACCCTGCCGTGATTCCGCCCACTTCCGGCCACGCCTCCAACAGACTGCCACTTTCGCCCTGAGATTTCCTAGTCCCACCCACCTGCCACCCTGCTCCCAAGCAGCTTCTCTAACCCCGCCCTATTCTTTAACCTCGCCCGCGGCCACGCCCCTCGCCTTGAGCCCGCCCTCTCGCCGCCCTGTCCAGTGCTGAACCTGACCCTGGTGGACCTGCCCGGAATGACCAAGGTCCCGGTGGGGGACCAACCTCCCGACATCGAGTTCCAGATCCGAGACATGCTTATGCAGTTTGTCACCAAGGAGAACTGCCTCATCCTGGCCGTGTCCCCCCCCAACTCTGACCTGGCCAATTCTGACGCCCTCAAGGTCGCCAAGGAGGTGGACCCCCAGGGTAGGTTCCCACCCGGTGGCCAATGCACAAAACCCCAGGCTTGCAGGCTGTCTATTCTTAGTGTAAAGGGGAGCCTCTGAACGGTCTAAGAATAGCGGTGGGATCAGATTTGTACCTTTAAAAATCACTTTGGGGGTCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGAGGATTGCTTGAGCCCAGGAGTTCGAGACAAGGCTGGGCAACCTAGTGAGACCCCATTTCTACAAAAAATTTAAAAATTAGCCGGGCACCGTGGTGCACGCTTGTGGTCCCAGCTACTCGTGAGGCTGAGGCCAGAGAATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCCTACTCGCACCACTGCAGTCCAGCATGGGCAAGAGTGAGACCCTGTCTCAAAAAAGAAAAAAAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAACTTGGGAGGATCGCTTGAAGCCAGGAGTTGGAAACCAGCCTGGCAACAAAGCGAGATCCCATCTCTAACAAATAAAAAAACAAGAAGAATAAATAAAAATCATTTTGGCTACTCTGTGGAAAATGAATAAGGGGGAAAGAGAGGAGGCAGTGAGCAGGCAGGGGGCCGAGGAGAGCAGGGGGATGGGAGTGGGAGTGCATGGAATTGTGTGTGAGAGCGGGTGCAGCTGTAGACGGCCCTCCTGCTGGTGCACCCAGGCCAGCGCACCATCGGGGTCATCACCAAGCTGGACCTGATGGACGAGGGCACAGATGCCCGTGATGTGCTGGAGAACAAGCTGCTCCCCCTGCGCAGAGGTAAGCAGGCCATGCCCCTCAACCACTCCCCAGCCCTTCCCCACCCTTCCCCTCCTCTTGAGGCTGGTTGCCCTGACCTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACA
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Task1_train_13263
|
A mutation on Chromosome 9 affecting DNM1 (dynamin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; not provided
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AACACAGGACGTATCTAGGAGTTGATCCAGTCTCTTGGCAGCTCAGATGCATAAATTCTGTGACCCAGGCGACTTGAGGAAAAGTATTTTCCACCTTTCTGGGCTGCCATATGCTCTTAGTTACCTGAAGCCCCTGGGCTAAGGAGCGGTGGAGCCAGCACTTTGGAAGGAGCTTTGGCTTTCCCAGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTTCTGCTTGGGTGTGTCTAGGGGGTTCTATTACCGGTGGGAGATGAAAACCCCCAGGTGGGGTTCCAGACCTTGATGCCTACTGCCCTTCCCCTGCCCGCTTCTGGAGCAGAATATGCCGAGTTCCTGCACTGCAAGGGAAAGAAATTCACCGACTTCGAGGAGGTGCGCCTTGAGATCGAGGCCGAGACCGACAGGGTCACCGGCACCAACAAGGGCATCTCGCCGGTGCCTATCAACCTCCGCGTCTACTCGCCGCACGGTGAGGACCCTGGCCCCGCCCTAACCTCTAAGAATCATTTTCTTGGCCACGCACCTCTGCGTGCCTCGCTCCTCCTGCAGACTCCGCCCCTAGAATGACCCTGCCTCTGCATCATCCTATTCCAAGCTCCACCCTGCCGTGATTCCGCCCACTTCCGGCCACGCCTCCAACAGACTGCCACTTTCGCCCTGAGATTTCCTAGTCCCACCCACCTGCCACCCTGCTCCCAAGCAGCTTCTCTAACCCCGCCCTATTCTTTAACCTCGCCCGCGGCCACGCCCCTCGCCTTGAGCCCGCCCTCTCGCCGCCCTGTCCAGTGCTGAACCTGACCCTGGTGGACCTGCCCGGAATGACCAAGGTCCCGGTGGGGGACCAACCTCCCGACATCGAGTTCCAGATCCGAGACATGCTTATGCAGTTTGTCACCAAGGAGAACTGCCTCATCCTGGCCGTGTCCCCCGCCAACTCTGACCTGGCCAATTCTGACGCCCTCAAGGTCGCCAAGGAGGTGGACCCCCAGGGTAGGTTCCCACCCGGTGGCCAATGCACAAAACCCCAGGCTTGCAGGCTGTCTATTCTTAGTGTAAAGGGGAGCCTCTGAACGGTCTAAGAATAGCGGTGGGATCAGATTTGTACCTTTAAAAATCACTTTGGGGGTCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGAGGATTGCTTGAGCCCAGGAGTTCGAGACAAGGCTGGGCAACCTAGTGAGACCCCATTTCTACAAAAAATTTAAAAATTAGCCGGGCACCGTGGTGCACGCTTGTGGTCCCAGCTACTCGTGAGGCTGAGGCCAGAGAATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCCTACTCGCACCACTGCAGTCCAGCATGGGCAAGAGTGAGACCCTGTCTCAAAAAAGAAAAAAAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAACTTGGGAGGATCGCTTGAAGCCAGGAGTTGGAAACCAGCCTGGCAACAAAGCGAGATCCCATCTCTAACAAATAAAAAAACAAGAAGAATAAATAAAAATCATTTTGGCTACTCTGTGGAAAATGAATAAGGGGGAAAGAGAGGAGGCAGTGAGCAGGCAGGGGGCCGAGGAGAGCAGGGGGATGGGAGTGGGAGTGCATGGAATTGTGTGTGAGAGCGGGTGCAGCTGTAGACGGCCCTCCTGCTGGTGCACCCAGGCCAGCGCACCATCGGGGTCATCACCAAGCTGGACCTGATGGACGAGGGCACAGATGCCCGTGATGTGCTGGAGAACAAGCTGCTCCCCCTGCGCAGAGGTAAGCAGGCCATGCCCCTCAACCACTCCCCAGCCCTTCCCCACCCTTCCCCTCCTCTTGAGGCTGGTTGCCCTGACCTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTG
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AACACAGGACGTATCTAGGAGTTGATCCAGTCTCTTGGCAGCTCAGATGCATAAATTCTGTGACCCAGGCGACTTGAGGAAAAGTATTTTCCACCTTTCTGGGCTGCCATATGCTCTTAGTTACCTGAAGCCCCTGGGCTAAGGAGCGGTGGAGCCAGCACTTTGGAAGGAGCTTTGGCTTTCCCAGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTTCTGCTTGGGTGTGTCTAGGGGGTTCTATTACCGGTGGGAGATGAAAACCCCCAGGTGGGGTTCCAGACCTTGATGCCTACTGCCCTTCCCCTGCCCGCTTCTGGAGCAGAATATGCCGAGTTCCTGCACTGCAAGGGAAAGAAATTCACCGACTTCGAGGAGGTGCGCCTTGAGATCGAGGCCGAGACCGACAGGGTCACCGGCACCAACAAGGGCATCTCGCCGGTGCCTATCAACCTCCGCGTCTACTCGCCGCACGGTGAGGACCCTGGCCCCGCCCTAACCTCTAAGAATCATTTTCTTGGCCACGCACCTCTGCGTGCCTCGCTCCTCCTGCAGACTCCGCCCCTAGAATGACCCTGCCTCTGCATCATCCTATTCCAAGCTCCACCCTGCCGTGATTCCGCCCACTTCCGGCCACGCCTCCAACAGACTGCCACTTTCGCCCTGAGATTTCCTAGTCCCACCCACCTGCCACCCTGCTCCCAAGCAGCTTCTCTAACCCCGCCCTATTCTTTAACCTCGCCCGCGGCCACGCCCCTCGCCTTGAGCCCGCCCTCTCGCCGCCCTGTCCAGTGCTGAACCTGACCCTGGTGGACCTGCCCGGAATGACCAAGGTCCCGGTGGGGGACCAACCTCCCGACATCGAGTTCCAGATCCGAGACATGCTTATGCAGTTTGTCACCAAGGAGAACTGCCTCATCCTGGCCGTGTCCCCCGCCAACTCTGACCTGGCCAATTCTGACGCCCTCAAGGTCGCCAAGGAGGTGGACCCCCAGGGTAGGTTCCCACCCGGTGGCCAATGCACAAAACCCCAGGCTTGCAGGCTGTCTATTCTTAGTGTAAAGGGGAGCCTCTGAACGGTCTAAGAATAGCGGTGGGATCAGATTTGTACCTTTAAAAATCACTTTGGGGGTCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGAGGATTGCTTGAGCCCAGGAGTTCGAGACAAGGCTGGGCAACCTAGTGAGACCCCATTTCTACAAAAAATTTAAAAATTAGCCGGGCACCGTGGTGCACGCTTGTGGTCCCAGCTACTCGTGAGGCTGAGGCCAGAGAATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCCTACTCGCACCACTGCAGTCCAGCATGGGCAAGAGTGAGACCCTGTCTCAAAAAAGAAAAAAAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAACTTGGGAGGATCGCTTGAAGCCAGGAGTTGGAAACCAGCCTGGCAACAAAGCGAGATCCCATCTCTAACAAATAAAAAAACAAGAAGAATAAATAAAAATCATTTTGGCTACTCTGTGGAAAATGAATAAGGGGGAAAGAGAGGAGGCAGTGAGCAGGCAGGGGGCCGAGGAGAGCAGGGGGATGGGAGTGGGAGTGCATGGAATTGTGTGTGAGAGCGGGTGCAGCTGTAGACGGCCCTCCTGCTGGTGCACCCAGGCCAGCGCACCATCGGGGTCATCACCAACCTGGACCTGATGGACGAGGGCACAGATGCCCGTGATGTGCTGGAGAACAAGCTGCTCCCCCTGCGCAGAGGTAAGCAGGCCATGCCCCTCAACCACTCCCCAGCCCTTCCCCACCCTTCCCCTCCTCTTGAGGCTGGTTGCCCTGACCTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTG
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Task1_train_13264
|
This sequence variant lies in DNM1 (dynamin 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Developmental and epileptic encephalopathy, 31A
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AGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTTCTGCTTGGGTGTGTCTAGGGGGTTCTATTACCGGTGGGAGATGAAAACCCCCAGGTGGGGTTCCAGACCTTGATGCCTACTGCCCTTCCCCTGCCCGCTTCTGGAGCAGAATATGCCGAGTTCCTGCACTGCAAGGGAAAGAAATTCACCGACTTCGAGGAGGTGCGCCTTGAGATCGAGGCCGAGACCGACAGGGTCACCGGCACCAACAAGGGCATCTCGCCGGTGCCTATCAACCTCCGCGTCTACTCGCCGCACGGTGAGGACCCTGGCCCCGCCCTAACCTCTAAGAATCATTTTCTTGGCCACGCACCTCTGCGTGCCTCGCTCCTCCTGCAGACTCCGCCCCTAGAATGACCCTGCCTCTGCATCATCCTATTCCAAGCTCCACCCTGCCGTGATTCCGCCCACTTCCGGCCACGCCTCCAACAGACTGCCACTTTCGCCCTGAGATTTCCTAGTCCCACCCACCTGCCACCCTGCTCCCAAGCAGCTTCTCTAACCCCGCCCTATTCTTTAACCTCGCCCGCGGCCACGCCCCTCGCCTTGAGCCCGCCCTCTCGCCGCCCTGTCCAGTGCTGAACCTGACCCTGGTGGACCTGCCCGGAATGACCAAGGTCCCGGTGGGGGACCAACCTCCCGACATCGAGTTCCAGATCCGAGACATGCTTATGCAGTTTGTCACCAAGGAGAACTGCCTCATCCTGGCCGTGTCCCCCGCCAACTCTGACCTGGCCAATTCTGACGCCCTCAAGGTCGCCAAGGAGGTGGACCCCCAGGGTAGGTTCCCACCCGGTGGCCAATGCACAAAACCCCAGGCTTGCAGGCTGTCTATTCTTAGTGTAAAGGGGAGCCTCTGAACGGTCTAAGAATAGCGGTGGGATCAGATTTGTACCTTTAAAAATCACTTTGGGGGTCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGAGGATTGCTTGAGCCCAGGAGTTCGAGACAAGGCTGGGCAACCTAGTGAGACCCCATTTCTACAAAAAATTTAAAAATTAGCCGGGCACCGTGGTGCACGCTTGTGGTCCCAGCTACTCGTGAGGCTGAGGCCAGAGAATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCCTACTCGCACCACTGCAGTCCAGCATGGGCAAGAGTGAGACCCTGTCTCAAAAAAGAAAAAAAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAACTTGGGAGGATCGCTTGAAGCCAGGAGTTGGAAACCAGCCTGGCAACAAAGCGAGATCCCATCTCTAACAAATAAAAAAACAAGAAGAATAAATAAAAATCATTTTGGCTACTCTGTGGAAAATGAATAAGGGGGAAAGAGAGGAGGCAGTGAGCAGGCAGGGGGCCGAGGAGAGCAGGGGGATGGGAGTGGGAGTGCATGGAATTGTGTGTGAGAGCGGGTGCAGCTGTAGACGGCCCTCCTGCTGGTGCACCCAGGCCAGCGCACCATCGGGGTCATCACCAAGCTGGACCTGATGGACGAGGGCACAGATGCCCGTGATGTGCTGGAGAACAAGCTGCTCCCCCTGCGCAGAGGTAAGCAGGCCATGCCCCTCAACCACTCCCCAGCCCTTCCCCACCCTTCCCCTCCTCTTGAGGCTGGTTGCCCTGACCTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGC
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AGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTTCTGCTTGGGTGTGTCTAGGGGGTTCTATTACCGGTGGGAGATGAAAACCCCCAGGTGGGGTTCCAGACCTTGATGCCTACTGCCCTTCCCCTGCCCGCTTCTGGAGCAGAATATGCCGAGTTCCTGCACTGCAAGGGAAAGAAATTCACCGACTTCGAGGAGGTGCGCCTTGAGATCGAGGCCGAGACCGACAGGGTCACCGGCACCAACAAGGGCATCTCGCCGGTGCCTATCAACCTCCGCGTCTACTCGCCGCACGGTGAGGACCCTGGCCCCGCCCTAACCTCTAAGAATCATTTTCTTGGCCACGCACCTCTGCGTGCCTCGCTCCTCCTGCAGACTCCGCCCCTAGAATGACCCTGCCTCTGCATCATCCTATTCCAAGCTCCACCCTGCCGTGATTCCGCCCACTTCCGGCCACGCCTCCAACAGACTGCCACTTTCGCCCTGAGATTTCCTAGTCCCACCCACCTGCCACCCTGCTCCCAAGCAGCTTCTCTAACCCCGCCCTATTCTTTAACCTCGCCCGCGGCCACGCCCCTCGCCTTGAGCCCGCCCTCTCGCCGCCCTGTCCAGTGCTGAACCTGACCCTGGTGGACCTGCCCGGAATGACCAAGGTCCCGGTGGGGGACCAACCTCCCGACATCGAGTTCCAGATCCGAGACATGCTTATGCAGTTTGTCACCAAGGAGAACTGCCTCATCCTGGCCGTGTCCCCCGCCAACTCTGACCTGGCCAATTCTGACGCCCTCAAGGTCGCCAAGGAGGTGGACCCCCAGGGTAGGTTCCCACCCGGTGGCCAATGCACAAAACCCCAGGCTTGCAGGCTGTCTATTCTTAGTGTAAAGGGGAGCCTCTGAACGGTCTAAGAATAGCGGTGGGATCAGATTTGTACCTTTAAAAATCACTTTGGGGGTCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGAGGATTGCTTGAGCCCAGGAGTTCGAGACAAGGCTGGGCAACCTAGTGAGACCCCATTTCTACAAAAAATTTAAAAATTAGCCGGGCACCGTGGTGCACGCTTGTGGTCCCAGCTACTCGTGAGGCTGAGGCCAGAGAATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCCTACTCGCACCACTGCAGTCCAGCATGGGCAAGAGTGAGACCCTGTCTCAAAAAAGAAAAAAAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAACTTGGGAGGATCGCTTGAAGCCAGGAGTTGGAAACCAGCCTGGCAACAAAGCGAGATCCCATCTCTAACAAATAAAAAAACAAGAAGAATAAATAAAAATCATTTTGGCTACTCTGTGGAAAATGAATAAGGGGGAAAGAGAGGAGGCAGTGAGCAGGCAGGGGGCCGAGGAGAGCAGGGGGATGGGAGTGGGAGTGCATGGAATTGTGTGTGAGAGCGGGTGCAGCTGTAGACGGCCCTCCTGCTGGTGCACCCAGGCCAGCGCACCATCGGGGTCATCACCAAGCTGGACCTGATGGACGAGGGCACAGATGCCCGTGATGTGCTGGAGAACAAGCTGCTCCCCCTGCGCAGAGGTAAGCAGGCCATGCCCCTCAACCACTCCCCAGCCCTTCCCCACCCTTCCCCTCCTCTTGAGGCTGGTTGCCCTGACCTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACTGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGC
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Task1_train_13265
|
This sequence change occurs on Chromosome 9, altering DNM1 (dynamin 1). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Inborn genetic diseases
|
AGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTTCTGCTTGGGTGTGTCTAGGGGGTTCTATTACCGGTGGGAGATGAAAACCCCCAGGTGGGGTTCCAGACCTTGATGCCTACTGCCCTTCCCCTGCCCGCTTCTGGAGCAGAATATGCCGAGTTCCTGCACTGCAAGGGAAAGAAATTCACCGACTTCGAGGAGGTGCGCCTTGAGATCGAGGCCGAGACCGACAGGGTCACCGGCACCAACAAGGGCATCTCGCCGGTGCCTATCAACCTCCGCGTCTACTCGCCGCACGGTGAGGACCCTGGCCCCGCCCTAACCTCTAAGAATCATTTTCTTGGCCACGCACCTCTGCGTGCCTCGCTCCTCCTGCAGACTCCGCCCCTAGAATGACCCTGCCTCTGCATCATCCTATTCCAAGCTCCACCCTGCCGTGATTCCGCCCACTTCCGGCCACGCCTCCAACAGACTGCCACTTTCGCCCTGAGATTTCCTAGTCCCACCCACCTGCCACCCTGCTCCCAAGCAGCTTCTCTAACCCCGCCCTATTCTTTAACCTCGCCCGCGGCCACGCCCCTCGCCTTGAGCCCGCCCTCTCGCCGCCCTGTCCAGTGCTGAACCTGACCCTGGTGGACCTGCCCGGAATGACCAAGGTCCCGGTGGGGGACCAACCTCCCGACATCGAGTTCCAGATCCGAGACATGCTTATGCAGTTTGTCACCAAGGAGAACTGCCTCATCCTGGCCGTGTCCCCCGCCAACTCTGACCTGGCCAATTCTGACGCCCTCAAGGTCGCCAAGGAGGTGGACCCCCAGGGTAGGTTCCCACCCGGTGGCCAATGCACAAAACCCCAGGCTTGCAGGCTGTCTATTCTTAGTGTAAAGGGGAGCCTCTGAACGGTCTAAGAATAGCGGTGGGATCAGATTTGTACCTTTAAAAATCACTTTGGGGGTCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGAGGATTGCTTGAGCCCAGGAGTTCGAGACAAGGCTGGGCAACCTAGTGAGACCCCATTTCTACAAAAAATTTAAAAATTAGCCGGGCACCGTGGTGCACGCTTGTGGTCCCAGCTACTCGTGAGGCTGAGGCCAGAGAATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCCTACTCGCACCACTGCAGTCCAGCATGGGCAAGAGTGAGACCCTGTCTCAAAAAAGAAAAAAAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAACTTGGGAGGATCGCTTGAAGCCAGGAGTTGGAAACCAGCCTGGCAACAAAGCGAGATCCCATCTCTAACAAATAAAAAAACAAGAAGAATAAATAAAAATCATTTTGGCTACTCTGTGGAAAATGAATAAGGGGGAAAGAGAGGAGGCAGTGAGCAGGCAGGGGGCCGAGGAGAGCAGGGGGATGGGAGTGGGAGTGCATGGAATTGTGTGTGAGAGCGGGTGCAGCTGTAGACGGCCCTCCTGCTGGTGCACCCAGGCCAGCGCACCATCGGGGTCATCACCAAGCTGGACCTGATGGACGAGGGCACAGATGCCCGTGATGTGCTGGAGAACAAGCTGCTCCCCCTGCGCAGAGGTAAGCAGGCCATGCCCCTCAACCACTCCCCAGCCCTTCCCCACCCTTCCCCTCCTCTTGAGGCTGGTTGCCCTGACCTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGC
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AGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTTCTGCTTGGGTGTGTCTAGGGGGTTCTATTACCGGTGGGAGATGAAAACCCCCAGGTGGGGTTCCAGACCTTGATGCCTACTGCCCTTCCCCTGCCCGCTTCTGGAGCAGAATATGCCGAGTTCCTGCACTGCAAGGGAAAGAAATTCACCGACTTCGAGGAGGTGCGCCTTGAGATCGAGGCCGAGACCGACAGGGTCACCGGCACCAACAAGGGCATCTCGCCGGTGCCTATCAACCTCCGCGTCTACTCGCCGCACGGTGAGGACCCTGGCCCCGCCCTAACCTCTAAGAATCATTTTCTTGGCCACGCACCTCTGCGTGCCTCGCTCCTCCTGCAGACTCCGCCCCTAGAATGACCCTGCCTCTGCATCATCCTATTCCAAGCTCCACCCTGCCGTGATTCCGCCCACTTCCGGCCACGCCTCCAACAGACTGCCACTTTCGCCCTGAGATTTCCTAGTCCCACCCACCTGCCACCCTGCTCCCAAGCAGCTTCTCTAACCCCGCCCTATTCTTTAACCTCGCCCGCGGCCACGCCCCTCGCCTTGAGCCCGCCCTCTCGCCGCCCTGTCCAGTGCTGAACCTGACCCTGGTGGACCTGCCCGGAATGACCAAGGTCCCGGTGGGGGACCAACCTCCCGACATCGAGTTCCAGATCCGAGACATGCTTATGCAGTTTGTCACCAAGGAGAACTGCCTCATCCTGGCCGTGTCCCCCGCCAACTCTGACCTGGCCAATTCTGACGCCCTCAAGGTCGCCAAGGAGGTGGACCCCCAGGGTAGGTTCCCACCCGGTGGCCAATGCACAAAACCCCAGGCTTGCAGGCTGTCTATTCTTAGTGTAAAGGGGAGCCTCTGAACGGTCTAAGAATAGCGGTGGGATCAGATTTGTACCTTTAAAAATCACTTTGGGGGTCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGAGGATTGCTTGAGCCCAGGAGTTCGAGACAAGGCTGGGCAACCTAGTGAGACCCCATTTCTACAAAAAATTTAAAAATTAGCCGGGCACCGTGGTGCACGCTTGTGGTCCCAGCTACTCGTGAGGCTGAGGCCAGAGAATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCCTACTCGCACCACTGCAGTCCAGCATGGGCAAGAGTGAGACCCTGTCTCAAAAAAGAAAAAAAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAACTTGGGAGGATCGCTTGAAGCCAGGAGTTGGAAACCAGCCTGGCAACAAAGCGAGATCCCATCTCTAACAAATAAAAAAACAAGAAGAATAAATAAAAATCATTTTGGCTACTCTGTGGAAAATGAATAAGGGGGAAAGAGAGGAGGCAGTGAGCAGGCAGGGGGCCGAGGAGAGCAGGGGGATGGGAGTGGGAGTGCATGGAATTGTGTGTGAGAGCGGGTGCAGCTGTAGACGGCCCTCCTGCTGGTGCACCCAGGCCAGCGCACCATCGGGGTCATCACCAAGCTGGACCTGATGGACGAGGGCACAGATGCCCGTGATGTGCTGGAGAACAAGCTGCTCCCCCTGCGCAGAGGTAAGCAGGCCATGCCCCTCAACCACTCCCCAGCCCTTCCCCACCCTTCCCCTCCTCTTGAGGCTGGTTGCCCTGACCTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACTGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGC
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Task1_train_13266
|
A variant found in Chromosome 9 affects DNM1 (dynamin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Inborn genetic diseases
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GCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTTCTGCTTGGGTGTGTCTAGGGGGTTCTATTACCGGTGGGAGATGAAAACCCCCAGGTGGGGTTCCAGACCTTGATGCCTACTGCCCTTCCCCTGCCCGCTTCTGGAGCAGAATATGCCGAGTTCCTGCACTGCAAGGGAAAGAAATTCACCGACTTCGAGGAGGTGCGCCTTGAGATCGAGGCCGAGACCGACAGGGTCACCGGCACCAACAAGGGCATCTCGCCGGTGCCTATCAACCTCCGCGTCTACTCGCCGCACGGTGAGGACCCTGGCCCCGCCCTAACCTCTAAGAATCATTTTCTTGGCCACGCACCTCTGCGTGCCTCGCTCCTCCTGCAGACTCCGCCCCTAGAATGACCCTGCCTCTGCATCATCCTATTCCAAGCTCCACCCTGCCGTGATTCCGCCCACTTCCGGCCACGCCTCCAACAGACTGCCACTTTCGCCCTGAGATTTCCTAGTCCCACCCACCTGCCACCCTGCTCCCAAGCAGCTTCTCTAACCCCGCCCTATTCTTTAACCTCGCCCGCGGCCACGCCCCTCGCCTTGAGCCCGCCCTCTCGCCGCCCTGTCCAGTGCTGAACCTGACCCTGGTGGACCTGCCCGGAATGACCAAGGTCCCGGTGGGGGACCAACCTCCCGACATCGAGTTCCAGATCCGAGACATGCTTATGCAGTTTGTCACCAAGGAGAACTGCCTCATCCTGGCCGTGTCCCCCGCCAACTCTGACCTGGCCAATTCTGACGCCCTCAAGGTCGCCAAGGAGGTGGACCCCCAGGGTAGGTTCCCACCCGGTGGCCAATGCACAAAACCCCAGGCTTGCAGGCTGTCTATTCTTAGTGTAAAGGGGAGCCTCTGAACGGTCTAAGAATAGCGGTGGGATCAGATTTGTACCTTTAAAAATCACTTTGGGGGTCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGAGGATTGCTTGAGCCCAGGAGTTCGAGACAAGGCTGGGCAACCTAGTGAGACCCCATTTCTACAAAAAATTTAAAAATTAGCCGGGCACCGTGGTGCACGCTTGTGGTCCCAGCTACTCGTGAGGCTGAGGCCAGAGAATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCCTACTCGCACCACTGCAGTCCAGCATGGGCAAGAGTGAGACCCTGTCTCAAAAAAGAAAAAAAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAACTTGGGAGGATCGCTTGAAGCCAGGAGTTGGAAACCAGCCTGGCAACAAAGCGAGATCCCATCTCTAACAAATAAAAAAACAAGAAGAATAAATAAAAATCATTTTGGCTACTCTGTGGAAAATGAATAAGGGGGAAAGAGAGGAGGCAGTGAGCAGGCAGGGGGCCGAGGAGAGCAGGGGGATGGGAGTGGGAGTGCATGGAATTGTGTGTGAGAGCGGGTGCAGCTGTAGACGGCCCTCCTGCTGGTGCACCCAGGCCAGCGCACCATCGGGGTCATCACCAAGCTGGACCTGATGGACGAGGGCACAGATGCCCGTGATGTGCTGGAGAACAAGCTGCTCCCCCTGCGCAGAGGTAAGCAGGCCATGCCCCTCAACCACTCCCCAGCCCTTCCCCACCCTTCCCCTCCTCTTGAGGCTGGTTGCCCTGACCTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAG
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GCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTTCTGCTTGGGTGTGTCTAGGGGGTTCTATTACCGGTGGGAGATGAAAACCCCCAGGTGGGGTTCCAGACCTTGATGCCTACTGCCCTTCCCCTGCCCGCTTCTGGAGCAGAATATGCCGAGTTCCTGCACTGCAAGGGAAAGAAATTCACCGACTTCGAGGAGGTGCGCCTTGAGATCGAGGCCGAGACCGACAGGGTCACCGGCACCAACAAGGGCATCTCGCCGGTGCCTATCAACCTCCGCGTCTACTCGCCGCACGGTGAGGACCCTGGCCCCGCCCTAACCTCTAAGAATCATTTTCTTGGCCACGCACCTCTGCGTGCCTCGCTCCTCCTGCAGACTCCGCCCCTAGAATGACCCTGCCTCTGCATCATCCTATTCCAAGCTCCACCCTGCCGTGATTCCGCCCACTTCCGGCCACGCCTCCAACAGACTGCCACTTTCGCCCTGAGATTTCCTAGTCCCACCCACCTGCCACCCTGCTCCCAAGCAGCTTCTCTAACCCCGCCCTATTCTTTAACCTCGCCCGCGGCCACGCCCCTCGCCTTGAGCCCGCCCTCTCGCCGCCCTGTCCAGTGCTGAACCTGACCCTGGTGGACCTGCCCGGAATGACCAAGGTCCCGGTGGGGGACCAACCTCCCGACATCGAGTTCCAGATCCGAGACATGCTTATGCAGTTTGTCACCAAGGAGAACTGCCTCATCCTGGCCGTGTCCCCCGCCAACTCTGACCTGGCCAATTCTGACGCCCTCAAGGTCGCCAAGGAGGTGGACCCCCAGGGTAGGTTCCCACCCGGTGGCCAATGCACAAAACCCCAGGCTTGCAGGCTGTCTATTCTTAGTGTAAAGGGGAGCCTCTGAACGGTCTAAGAATAGCGGTGGGATCAGATTTGTACCTTTAAAAATCACTTTGGGGGTCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCGGGAGGATTGCTTGAGCCCAGGAGTTCGAGACAAGGCTGGGCAACCTAGTGAGACCCCATTTCTACAAAAAATTTAAAAATTAGCCGGGCACCGTGGTGCACGCTTGTGGTCCCAGCTACTCGTGAGGCTGAGGCCAGAGAATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCCTACTCGCACCACTGCAGTCCAGCATGGGCAAGAGTGAGACCCTGTCTCAAAAAAGAAAAAAAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAACTTGGGAGGATCGCTTGAAGCCAGGAGTTGGAAACCAGCCTGGCAACAAAGCGAGATCCCATCTCTAACAAATAAAAAAACAAGAAGAATAAATAAAAATCATTTTGGCTACTCTGTGGAAAATGAATAAGGGGGAAAGAGAGGAGGCAGTGAGCAGGCAGGGGGCCGAGGAGAGCAGGGGGATGGGAGTGGGAGTGCATGGAATTGTGTGTGAGAGCGGGTGCAGCTGTAGACGGCCCTCCTGCTGGTGCACCCAGGCCAGCGCACCATCGGGGTCATCACCAAGCTGGACCTGATGGACGAGGGCACAGATGCCCGTGATGTGCTGGAGAACAAGCTGCTCCCCCTGCGCAGAGGTAAGCAGGCCATGCCCCTCAACCACTCCCCAGCCCTTCCCCACCCTTCCCCTCCTCTTGAGGCTGGTTGCCCTGACCTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACCGGATCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAG
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Task1_train_13267
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This variant affects gene DNM1 (dynamin 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
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Pathogenic; Developmental and epileptic encephalopathy, 31A
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CTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCT
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CTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACTTCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCT
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Task1_train_13268
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With a mutation on Chromosome 9 in gene DNM1 (dynamin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Developmental and epileptic encephalopathy, 31A
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ACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATCCGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGACAGTGCACCAAGAAGGTAACCCGGAGGCCCGGGCCAGCCCCCACCGCCTCTGCCCCGCCCTGCACTGCTGCCAGGCGCTCCTTCCCCATGTCCCCCCCTGCCTCCTCGGTAGCATGTACAGACCTCAGCGGGGTGGGGAGGCAGGCCACCACTGAATAGGAGACAATGTGCCTCTGA
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ACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGAGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATCCGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGACAGTGCACCAAGAAGGTAACCCGGAGGCCCGGGCCAGCCCCCACCGCCTCTGCCCCGCCCTGCACTGCTGCCAGGCGCTCCTTCCCCATGTCCCCCCCTGCCTCCTCGGTAGCATGTACAGACCTCAGCGGGGTGGGGAGGCAGGCCACCACTGAATAGGAGACAATGTGCCTCTGA
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Task1_train_13269
|
This mutation occurs in DNM1 (dynamin 1) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; not provided
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CTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATCCGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGACAGTGCACCAAGAAGGTAACCCGGAGGCCCGGGCCAGCCCCCACCGCCTCTGCCCCGCCCTGCACTGCTGCCAGGCGCTCCTTCCCCATGTCCCCCCCTGCCTCCTCGGTAGCATGTACAGACCTCAGCGGGGTGGGGAGGCAGGCCACCACTGAATAGGAGACAATGTGCCTCTGAG
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CTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGTCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATCCGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGACAGTGCACCAAGAAGGTAACCCGGAGGCCCGGGCCAGCCCCCACCGCCTCTGCCCCGCCCTGCACTGCTGCCAGGCGCTCCTTCCCCATGTCCCCCCCTGCCTCCTCGGTAGCATGTACAGACCTCAGCGGGGTGGGGAGGCAGGCCACCACTGAATAGGAGACAATGTGCCTCTGAG
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Task1_train_13270
|
This sequence change occurs on Chromosome 9, altering DNM1 (dynamin 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Inborn genetic diseases
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CACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATCCGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGACAGTGCACCAAGAAGGTAACCCGGAGGCCCGGGCCAGCCCCCACCGCCTCTGCCCCGCCCTGCACTGCTGCCAGGCGCTCCTTCCCCATGTCCCCCCCTGCCTCCTCGGTAGCATGTACAGACCTCAGCGGGGTGGGGAGGCAGGCCACCACTGAATAGGAGACAATGTGCCTCTGAGAGGGCCTCACCCACCCCTGGCCCCCAGGTCTGGGGACC
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CACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGAGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATCCGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGACAGTGCACCAAGAAGGTAACCCGGAGGCCCGGGCCAGCCCCCACCGCCTCTGCCCCGCCCTGCACTGCTGCCAGGCGCTCCTTCCCCATGTCCCCCCCTGCCTCCTCGGTAGCATGTACAGACCTCAGCGGGGTGGGGAGGCAGGCCACCACTGAATAGGAGACAATGTGCCTCTGAGAGGGCCTCACCCACCCCTGGCCCCCAGGTCTGGGGACC
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Task1_train_13271
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Here’s a variant in DNM1 (dynamin 1) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Developmental and epileptic encephalopathy, 31A
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CACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATCCGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGACAGTGCACCAAGAAGGTAACCCGGAGGCCCGGGCCAGCCCCCACCGCCTCTGCCCCGCCCTGCACTGCTGCCAGGCGCTCCTTCCCCATGTCCCCCCCTGCCTCCTCGGTAGCATGTACAGACCTCAGCGGGGTGGGGAGGCAGGCCACCACTGAATAGGAGACAATGTGCCTCTGAGAGGGCCTCACCCACCCCTGGCCCCCAGGTCTGGGGACC
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CACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGAGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATCCGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGACAGTGCACCAAGAAGGTAACCCGGAGGCCCGGGCCAGCCCCCACCGCCTCTGCCCCGCCCTGCACTGCTGCCAGGCGCTCCTTCCCCATGTCCCCCCCTGCCTCCTCGGTAGCATGTACAGACCTCAGCGGGGTGGGGAGGCAGGCCACCACTGAATAGGAGACAATGTGCCTCTGAGAGGGCCTCACCCACCCCTGGCCCCCAGGTCTGGGGACC
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Task1_train_13272
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Here is a mutation in DNM1 (dynamin 1) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Inborn genetic diseases
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TCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATCCGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGACAGTGCACCAAGAAGGTAACCCGGAGGCCCGGGCCAGCCCCCACCGCCTCTGCCCCGCCCTGCACTGCTGCCAGGCGCTCCTTCCCCATGTCCCCCCCTGCCTCCTCGGTAGCATGTACAGACCTCAGCGGGGTGGGGAGGCAGGCCACCACTGAATAGGAGACAATGTGCCTCTGAGAGGGCCTCACCCACCCCTGGCCCCCAGGTCTGGGGACCCAGGGATTGGACATGGGTGAGACGGGGATGATGGCTGGCTGTTTACCCCAAGAGCCCACCAAGAGCTCCCCCAGCTCAGAGAATAGGGCTTGAGGGGACCCTGAGCCCCCTCCCTGTCCTCGGAGGTGTCATCTTTGGGAGCTCCAGGGAGGGGTCTGGGGAAACCTTAGCCTTGGAGACAGGTGAAATGCAGGGCCTTCTCGGGCACTGCTCGGTGGGCCTGGGTGGCCAGAGGGGGTGCAGAGGACCCAGGACTAGCAGGTGCCCTGGCTCCCCGCTGTCCTTCATCCTCCCCATACTCATCTCACCCT
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TCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGACATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATCCGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGACAGTGCACCAAGAAGGTAACCCGGAGGCCCGGGCCAGCCCCCACCGCCTCTGCCCCGCCCTGCACTGCTGCCAGGCGCTCCTTCCCCATGTCCCCCCCTGCCTCCTCGGTAGCATGTACAGACCTCAGCGGGGTGGGGAGGCAGGCCACCACTGAATAGGAGACAATGTGCCTCTGAGAGGGCCTCACCCACCCCTGGCCCCCAGGTCTGGGGACCCAGGGATTGGACATGGGTGAGACGGGGATGATGGCTGGCTGTTTACCCCAAGAGCCCACCAAGAGCTCCCCCAGCTCAGAGAATAGGGCTTGAGGGGACCCTGAGCCCCCTCCCTGTCCTCGGAGGTGTCATCTTTGGGAGCTCCAGGGAGGGGTCTGGGGAAACCTTAGCCTTGGAGACAGGTGAAATGCAGGGCCTTCTCGGGCACTGCTCGGTGGGCCTGGGTGGCCAGAGGGGGTGCAGAGGACCCAGGACTAGCAGGTGCCCTGGCTCCCCGCTGTCCTTCATCCTCCCCATACTCATCTCACCCT
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Task1_train_13273
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This gene mutation involves DNM1 (dynamin 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Developmental and epileptic encephalopathy, 31A
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TCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATCCGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGACAGTGCACCAAGAAGGTAACCCGGAGGCCCGGGCCAGCCCCCACCGCCTCTGCCCCGCCCTGCACTGCTGCCAGGCGCTCCTTCCCCATGTCCCCCCCTGCCTCCTCGGTAGCATGTACAGACCTCAGCGGGGTGGGGAGGCAGGCCACCACTGAATAGGAGACAATGTGCCTCTGAGAGGGCCTCACCCACCCCTGGCCCCCAGGTCTGGGGACCCAGGGATTGGACATGGGTGAGACGGGGATGATGGCTGGCTGTTTACCCCAAGAGCCCACCAAGAGCTCCCCCAGCTCAGAGAATAGGGCTTGAGGGGACCCTGAGCCCCCTCCCTGTCCTCGGAGGTGTCATCTTTGGGAGCTCCAGGGAGGGGTCTGGGGAAACCTTAGCCTTGGAGACAGGTGAAATGCAGGGCCTTCTCGGGCACTGCTCGGTGGGCCTGGGTGGCCAGAGGGGGTGCAGAGGACCCAGGACTAGCAGGTGCCCTGGCTCCCCGCTGTCCTTCATCCTCCCCATACTCATCTCACCCTCACTC
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TCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAGGGATTCTCCTACCTCAGCCTCCCAGGTAGCTGGGATTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGTACTCCTGACATCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCATAATCGTGCCTGGCCTCTGAGCCTCTATTTCTGCATCTGTAAAATGGAGACAATGGTGATCAGACCTGTTTCATAGGATTGTTGTAAAGGTTCAGGGAGATACTGTGTGGGGGCACCTAGTGAGCATGAGTGCTAGAACTTGAGAATGACCTTAAAGGAGGCTTTAAACCCAGAGGGTCCAAGGGGCAGCCCTCTGGCCACCCCTGCCTCAGACGCACGTCTAAAAATATTAAATTGGGATGGTATGGTGGTTCATGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAAAAGTTCGACACCAGCCTGGCCAACAAGGCGAAAACCTGTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGAGATCGCAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGACGAGTGAAACTCCGTCTCAAAAAAATAATAATAATAAATAAAAATAAAAAGATTAAATTGGCCAAAAATCAGGAAATTCCAAATACAAATCCAGATTTCTGGCTTTATTGAAAATTATGCACTCATTAATTCAACTAATACATCTCTGCAAGCTCCTTCTATGAACCAGTTTTCTTGCTAGTGGCCCGGGCAGCAGTGGCAGGGCTGCCCTCCATAGCTCTCCACCTCACCACGTTCACACAGTCCCCTGGCATCCAAGTCCCTTCCTGGCCCTGTGACCATCTGTCCTCAACCCTTTCCTCACCCTTACCCCCAGCAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTGCAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGATGACCCAGCTCGCAAGACCAAGGCCCTGCTGCAGTGAGGCTCCCCCAGCTCCTATCACTGAATCCCCGCCCCCAGCCTCTCAGCGTGGGGCTCTCCCAGGGTTCCCTTTGCTGGGCTGCTCCTGCCCCCTCAGGCCACACCACTCTCCCACCAGGATGGTCCAGCAGTTCGCCGTAGACTTTGAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAGGTAGGTCAGGCAGCCCTGGGGACAGGATGGCTCAGGACTCCCCCCACCCTCACTCAGGACTCTCTCTGCGTGTGTTTTTGCTGGCCCCCACCCCACAGGCCCTGATGCCCAGCCCTAGGTGTGGGGTGGGCCCTGTCTTGACCTCCCAGGTAGTAGGACAGGCCCTGACCAGGCTTTTCTCTGCTTTTCTACACAGATGGAGTTTGATGAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTTGGCACGTATTGGGGCCTGGGAGGGTGGCTGAACCCCAGAAGTAGGGGGTCTGGGACAGAGGCACAGGGAGTGATGAAGTGGGCCTCCCTCAGGAAGGACTGAAAGCTCTGTTCCCCAGTCCTCTCGACCCCAACTTTCTGGCTCCCTGCATGACAGGCTCCAGCTTGGGGAGGTGGACCCGGGCCACCCCGCCTACTGCAACTTGCTGGGCCAACTGGGCACAGCCCAGGGCGCAGGTGGCCGGGGAAACACCCTCTGGGGCTGGGCCCATCCCCAGGGTGAGATAGCTCCCCCAGTGCCACCCAGGTAACCGGACAAAGATGTCCAAACCACTACGAGGGCCTGGGGTGGAGCATCTAAGTATGAGGCTGTGTCCTTTTATGACGGCCGGGGACTTTGCAATCCTCCACACCCTCCTGTATTCACAGTAGCCCAGAGTCAGTCCCATTCCACCCCACCGCCCTCCTTCTAGGCAACCCGTGGAGTAGGAAACAGGATTGGGAGGTGGAATCTGTTCCTTAAAAGCTTAGATCCCCTTCAGGGACCCAGATCTATGCTGTGTTCATCCAACAAATCCACTGGGCCGGAAAATTTAAAGCACCTACCCTATGCCAAGCAGTGAACAAGACCCAGTGTCCCCTTGCTCTCATGCAGGTTCATTTCCAAGATTTGGCATGGAATTTACTTCCTGATAACTGCACTGGCCAATTCACAGAAAAAAGATCTCTTTCCTAGTCTTAAAACAAAACACTCTATTCCTGGAAAGGCTCTTATGGAGAACCACGTTTGGCAATTTTCAAGCCATTTCTGGCCATAGAACTTCCTATATGCACAGACCCTTACGAGGAAGCAGGACTTACATATCAGATACTCAACCACCTTGTCTTGCCCCAAAGAGCCTCATTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACGAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAATAACAACAACAACAAAAAACCCTTCATTAGAACCCCTCCCTCCCATTTTACAACTGGGGACACTGAGGCCCAGAGAGGGGTAGTGGAAGGGCCCCTCAGGCAGAGTTCGTGGGCTTGGGGAGGAGCCTCGGCCTGGCCCTCCTGGCCGGCACTGGCCTGTGACACTCTGCCCTTCTCCCGCTCCGGGCGTTCAGAACGGGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATCCGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGACAGTGCACCAAGAAGGTAACCCGGAGGCCCGGGCCAGCCCCCACCGCCTCTGCCCCGCCCTGCACTGCTGCCAGGCGCTCCTTCCCCATGTCCCCCCCTGCCTCCTCGGTAGCATGTACAGACCTCAGCGGGGTGGGGAGGCAGGCCACCACTGAATAGGAGACAATGTGCCTCTGAGAGGGCCTCACCCACCCCTGGCCCCCAGGTCTGGGGACCCAGGGATTGGACATGGGTGAGACGGGGATGATGGCTGGCTGTTTACCCCAAGAGCCCACCAAGAGCTCCCCCAGCTCAGAGAATAGGGCTTGAGGGGACCCTGAGCCCCCTCCCTGTCCTCGGAGGTGTCATCTTTGGGAGCTCCAGGGAGGGGTCTGGGGAAACCTTAGCCTTGGAGACAGGTGAAATGCAGGGCCTTCTCGGGCACTGCTCGGTGGGCCTGGGTGGCCAGAGGGGGTGCAGAGGACCCAGGACTAGCAGGTGCCCTGGCTCCCCGCTGTCCTTCATCCTCCCCATACTCATCTCACCCTCACTC
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Task1_train_13274
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Here is a variant affecting COQ4, LOC130002704 (coenzyme Q4| ATAC-STARR-seq lymphoblastoid silent region 20335) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
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GCTGGGATTACAGGCGTGAGCCACCACGCCTAGCTAGATTACTTATAATGCCTAATATAATGCCTATGCATCACCTTGAGTGGATTCAACACAGTACTAGGTGCACAGCAAATTCAAGTTTTGCTTTTTGGAACTTTGTGTTTTTCTTCCCAAATACTGCCAATCTGAAGCTGGATCATGGGATGTGGAACTCATGGACTCAGAGGCAACTGTACTTAGTGACACGTGAAAATTACCTGAAGTTCAAATATGAATATTCATAAAGTTCTATTGGAATACAGCTAGGCTCATTCCTTTAGATACTGTCTATAGCTGTTTGGCACTACATTGGCAGAGTTGAGCAGTTCCAACGGAAATCACATGGCCTGAAAACTAAAACATTCAGTATCTGGCCCTTTCCAAGGAAATCTGCCAATTCCTGGTCTAATACCTCACTCCTCTGTGGACCTTCAAGGGCCTGGCACAGGAATCTGAGCACTGGGACACTGACTCGGCTCAGGGATTTCCTGGGAAGTGACACACAGGATCCTGCTTAAATCTGCCTTACCCAGTGGATGGTTGATGAAAGAGGGTACGCTGGTGGCTGTGAGGGTCAGCTCCTTCTCTTCGCTGCCTTCCATGGGGCCCAGCAAGAAGCGAACACGCTGTTTAGGAGCGGGAGGCTTCCTGGCATTGAGACCTGAACACACAGAGATAATATATACACACATACATACAAATATATGTACATATAAAATATTTTTTAAGAGACAGGGCCTCGTTCTGTAGCCCAGGCTGAAGTGCAATGGCGCCATCATAGCTCACTGTAACGTCAAACTCTTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGCACCACGATGCTGACCAGGAATATCTTGTTCTGTCCAAACACTTGGGGGATTAGACAACAGGGAAGTATGATGTAGAAGACAAAGCAGAAGCCCATGGTGCAGAGGGCAGTATAGCAGTAGTTAAGAAACAGGCGGATTCAAACAGACTCTACAACGTAGTAACCGTGTGACAAGGAACAATACTGAGTCAGTTTCCCCCTCGGAAAACAGAGGAAAGTGAGGAGTAAGAAAGCACAGAGAACAGGCGTTTGGGAAAGCGCTCTGCCCAGGTGAATAGGTCACGTGATTTTGTTTTGGGGTAAGGACCAGAAGCGGAGATGGACTTCCAAGAGAACGAGAGCGGGAACGTGGGTCTGGTTCGAGGCACTCACCCTTCAGAAGTTGTAGCTCCACTGTATCCCGCAGGTGCTTCCATTTTAGCCCCGGGGGCTTATAGACCGCGAAAAGCCCATGCAGCCGCGACAAGCCAGCAGACCCCATACTTGAAGATCACAGCACCCGCTGGACCTGGACGGAAGTACCGCCAGGCCCCGCCCCCAAATGTGGTCCTTTCCACGGGCGCCGCCATGTTCCACAGCCGGAAGAGGTTCGCATTTTATAGTCTTCGGGGAAAACCGGCTGTGGAGAAGGAAATAGGGCCCGGCGCTGAGTGAGCGTGGTTGCGTGTCCTTTGCAGACACTTTCTGGGGCGAGGTGACATGGCGAGAGTCTTGGATCGGTGGACGTAGACGGTAGACAGTTCGCGTGCGTTTCCTTCGCCTACTTGGCCTACATGCCTTCTGCCCGTGAAGCGATGTTTCCCCTCGAAAGGCCGTAGGCTACGCCGTCAGAATCGGTTTTTCAGTGAGTTTTGACCCCTCCGACGCTCCGTCGCCTGACAGAATCGCGGCGTTCTTCGTACCCGCCCATCCTCCGCGGACGCCCGCTGCCATGGCGACTCTGCTGCGCCCTGTCCTCCGTCGGCTCTGCGGGCTCCCGGGCCTACAGCGGCCTGCGGCAGGCAAGTGGCGCCGGGTTCTGGGCGCAGGCGGGAAGGAGCCTGAGGGCGCCCGGCTCCTCTGACCTCGGCCTTTTTCTTGCCCCGCAGAAATGCCCCTCCGGGCTAGGAGCGACGGCGCCGGCCCGCTATACTCGCACCACCTCCCCACCTCCCCGCTGCAGAAAGGGCTGTTGGCCGCCGGCTCCGCGGCGATGGCGCTCTATAACCCCTACCGCCACGGTAAGGCCGCCCGCGCCTCGCCCCCGTGGGGGCGGCTTGGAGCCGTTTCCTGTGGGTAACTGGAACATAGCCTAGGTCGGGGTACCCAAACCTGGTTGCAGCTCGTAACCACTCGGAACGTTTATGAAAATGCAGATTCCTGGATCCCACCTAAACGCACTGAATCTGAATCTGAATCTGCAGTGGAGGGAGAAATGGGCGTGAAACCGAAAGTCTGTCTTTAAACTACTTGGGAGAATCTGTCATGCAGCCATATTGAGAACATCTAGACTAAATAGATGATTCATAAGTACCGATCAGTTTATAATATCCTACTAGAAAGTCAACTCCGAGGTCGAGGACCATGTCTGCCTCGTTCCACTGCATCTGCAGCCTTCTGGATAGTGCCTGGCACATAGTAAATGCTCAATAAATGTTTGCTGGATGTGTGACTAGAACATTCTAGGGTTCTACAGTGTTTTTCTTATGCCTCCTAGATTTTTGAGTTCTGGGAAGTACTGTTATTCCTACTAACAAAAACAGGCTAGGCGCTATTATAGTGGCTCACGCCTATAATCCCTATCGGGGGGCCGAAGCGGGCAGATGGCTTGAGCTGAGGAGTTTGAAACCAGCCTGGGCAACACGGTGAATCCCCATCTCTACAAAAAAAAATACAAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCTGTGCGGCCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGATTTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCGGCCAAGACCAGCGAATTTTTTAATTTTTTTGTAGAGACGGCGTCTTGCCACGTTGCCCAGGCTGCTCTGGAACTCTTGGCCTCAAGTGATCCTCCTGCCTCAGCCCCCCAGTGTTGAGATTACAGGTGTCAGCCGCTACACTTGGCCACTAAGTGTTATATATATATGATTTTCATGGTTTCTCACATTAACCAGCTAAGAAAGGTGTTGTCTGCACTTCACAAATTAAGACACTGAGGCTGAAAAATGTGAAGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAATCCAAGGTGGGAGGATCACTTGGGGCCAAAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAGAAAATTTAAAAAACTAGCTGCATGCCTGTAGTCCTAGCAGTGAGCTATGATCACACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAAACAAAACAGAAATGTGAAGCAATTTGTACTAGGTCACCTAGATAGTGAACACACCTGGACTGTAGCCCAGCATCTCTGATGCCTAAGCCTCTACCAATCAATGGAGACATGATATTGTATTGTGAAAAGTGATTTATAAAATCTTTACAACGTTGTGCTAACTAGAGCTGTCCCGCCCCAGTAGATTAAGAATAAGAACTATAGATATGTATACTGATCCCTTGTTGTGTGCTGGGTAATTTGCTAAGTGTTTAGCCTGAATCCTTATAACAAAGAGCTAGACATCATCCCTAATTTATCCTGTAGGAAACAAAGGCTCAGACCAGGTCAGCTAACTTACCTAAGATGACATCCCCCATTTGTGCCCGTTTCTGTCCTTTCAGACATG
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GCTGGGATTACAGGCGTGAGCCACCACGCCTAGCTAGATTACTTATAATGCCTAATATAATGCCTATGCATCACCTTGAGTGGATTCAACACAGTACTAGGTGCACAGCAAATTCAAGTTTTGCTTTTTGGAACTTTGTGTTTTTCTTCCCAAATACTGCCAATCTGAAGCTGGATCATGGGATGTGGAACTCATGGACTCAGAGGCAACTGTACTTAGTGACACGTGAAAATTACCTGAAGTTCAAATATGAATATTCATAAAGTTCTATTGGAATACAGCTAGGCTCATTCCTTTAGATACTGTCTATAGCTGTTTGGCACTACATTGGCAGAGTTGAGCAGTTCCAACGGAAATCACATGGCCTGAAAACTAAAACATTCAGTATCTGGCCCTTTCCAAGGAAATCTGCCAATTCCTGGTCTAATACCTCACTCCTCTGTGGACCTTCAAGGGCCTGGCACAGGAATCTGAGCACTGGGACACTGACTCGGCTCAGGGATTTCCTGGGAAGTGACACACAGGATCCTGCTTAAATCTGCCTTACCCAGTGGATGGTTGATGAAAGAGGGTACGCTGGTGGCTGTGAGGGTCAGCTCCTTCTCTTCGCTGCCTTCCATGGGGCCCAGCAAGAAGCGAACACGCTGTTTAGGAGCGGGAGGCTTCCTGGCATTGAGACCTGAACACACAGAGATAATATATACACACATACATACAAATATATGTACATATAAAATATTTTTTAAGAGACAGGGCCTCGTTCTGTAGCCCAGGCTGAAGTGCAATGGCGCCATCATAGCTCACTGTAACGTCAAACTCTTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGCACCACGATGCTGACCAGGAATATCTTGTTCTGTCCAAACACTTGGGGGATTAGACAACAGGGAAGTATGATGTAGAAGACAAAGCAGAAGCCCATGGTGCAGAGGGCAGTATAGCAGTAGTTAAGAAACAGGCGGATTCAAACAGACTCTACAACGTAGTAACCGTGTGACAAGGAACAATACTGAGTCAGTTTCCCCCTCGGAAAACAGAGGAAAGTGAGGAGTAAGAAAGCACAGAGAACAGGCGTTTGGGAAAGCGCTCTGCCCAGGTGAATAGGTCACGTGATTTTGTTTTGGGGTAAGGACCAGAAGCGGAGATGGACTTCCAAGAGAACGAGAGCGGGAACGTGGGTCTGGTTCGAGGCACTCACCCTTCAGAAGTTGTAGCTCCACTGTATCCCGCAGGTGCTTCCATTTTAGCCCCGGGGGCTTATAGACCGCGAAAAGCCCATGCAGCCGCGACAAGCCAGCAGACCCCATACTTGAAGATCACAGCACCCGCTGGACCTGGACGGAAGTACCGCCAGGCCCCGCCCCCAAATGTGGTCCTTTCCACGGGCGCCGCCATGTTCCACAGCCGGAAGAGGTTCGCATTTTATAGTCTTCGGGGAAAACCGGCTGTGGAGAAGGAAATAGGGCCCGGCGCTGAGTGAGCGTGGTTGCGTGTCCTTTGCAGACACTTTCTGGGGCGAGGTGACATGGCGAGAGTCTTGGATCGGTGGACGTAGACGGTAGACAGTTCGCGTGCGTTTCCTTCGCCTACTTGGCCTACATGCCTTCTGCCCGTGAAGCGATGTTTCCCCTCGAAAGGCCGTAGGCTACGCCGTCAGAATCGGTTTTTCAGTGAGTTTTGACCCCTCCGACGCTCCGTCGCCTGACAGAATCGCGGCGTTCTTCGTACCCGCCCATCCTCCGCGGACGCCCGCTGCCATGGCGACTCTGCTGCGCCCTGTCCTCCGTCGGCTCTGCGGGCTCCCGGGCCTACAGCGGCCTGCGGCAGGCAAGTGGCGCCGGGTTCTGGGCGCAGGCGGGAAGGAGCCTGAGGGCGCCCGGCTCCTCTGACCTCGGCCTTTTTCTTGCCCCGCAGAAATGCCCCTCCGGGCTAGGAGCGACGGCGCCGGCCCGCTATACTCGCACCACCTCCCCACCTCCCCGCTGCAGAAAGGGCTGTCGGCCGCCGGCTCCGCGGCGATGGCGCTCTATAACCCCTACCGCCACGGTAAGGCCGCCCGCGCCTCGCCCCCGTGGGGGCGGCTTGGAGCCGTTTCCTGTGGGTAACTGGAACATAGCCTAGGTCGGGGTACCCAAACCTGGTTGCAGCTCGTAACCACTCGGAACGTTTATGAAAATGCAGATTCCTGGATCCCACCTAAACGCACTGAATCTGAATCTGAATCTGCAGTGGAGGGAGAAATGGGCGTGAAACCGAAAGTCTGTCTTTAAACTACTTGGGAGAATCTGTCATGCAGCCATATTGAGAACATCTAGACTAAATAGATGATTCATAAGTACCGATCAGTTTATAATATCCTACTAGAAAGTCAACTCCGAGGTCGAGGACCATGTCTGCCTCGTTCCACTGCATCTGCAGCCTTCTGGATAGTGCCTGGCACATAGTAAATGCTCAATAAATGTTTGCTGGATGTGTGACTAGAACATTCTAGGGTTCTACAGTGTTTTTCTTATGCCTCCTAGATTTTTGAGTTCTGGGAAGTACTGTTATTCCTACTAACAAAAACAGGCTAGGCGCTATTATAGTGGCTCACGCCTATAATCCCTATCGGGGGGCCGAAGCGGGCAGATGGCTTGAGCTGAGGAGTTTGAAACCAGCCTGGGCAACACGGTGAATCCCCATCTCTACAAAAAAAAATACAAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCTGTGCGGCCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGATTTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCGGCCAAGACCAGCGAATTTTTTAATTTTTTTGTAGAGACGGCGTCTTGCCACGTTGCCCAGGCTGCTCTGGAACTCTTGGCCTCAAGTGATCCTCCTGCCTCAGCCCCCCAGTGTTGAGATTACAGGTGTCAGCCGCTACACTTGGCCACTAAGTGTTATATATATATGATTTTCATGGTTTCTCACATTAACCAGCTAAGAAAGGTGTTGTCTGCACTTCACAAATTAAGACACTGAGGCTGAAAAATGTGAAGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAATCCAAGGTGGGAGGATCACTTGGGGCCAAAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAGAAAATTTAAAAAACTAGCTGCATGCCTGTAGTCCTAGCAGTGAGCTATGATCACACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAAACAAAACAGAAATGTGAAGCAATTTGTACTAGGTCACCTAGATAGTGAACACACCTGGACTGTAGCCCAGCATCTCTGATGCCTAAGCCTCTACCAATCAATGGAGACATGATATTGTATTGTGAAAAGTGATTTATAAAATCTTTACAACGTTGTGCTAACTAGAGCTGTCCCGCCCCAGTAGATTAAGAATAAGAACTATAGATATGTATACTGATCCCTTGTTGTGTGCTGGGTAATTTGCTAAGTGTTTAGCCTGAATCCTTATAACAAAGAGCTAGACATCATCCCTAATTTATCCTGTAGGAAACAAAGGCTCAGACCAGGTCAGCTAACTTACCTAAGATGACATCCCCCATTTGTGCCCGTTTCTGTCCTTTCAGACATG
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Task1_train_13275
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This variant impacts the gene COQ4 (coenzyme Q4) on Chromosome 9. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
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ATGCCTAATATAATGCCTATGCATCACCTTGAGTGGATTCAACACAGTACTAGGTGCACAGCAAATTCAAGTTTTGCTTTTTGGAACTTTGTGTTTTTCTTCCCAAATACTGCCAATCTGAAGCTGGATCATGGGATGTGGAACTCATGGACTCAGAGGCAACTGTACTTAGTGACACGTGAAAATTACCTGAAGTTCAAATATGAATATTCATAAAGTTCTATTGGAATACAGCTAGGCTCATTCCTTTAGATACTGTCTATAGCTGTTTGGCACTACATTGGCAGAGTTGAGCAGTTCCAACGGAAATCACATGGCCTGAAAACTAAAACATTCAGTATCTGGCCCTTTCCAAGGAAATCTGCCAATTCCTGGTCTAATACCTCACTCCTCTGTGGACCTTCAAGGGCCTGGCACAGGAATCTGAGCACTGGGACACTGACTCGGCTCAGGGATTTCCTGGGAAGTGACACACAGGATCCTGCTTAAATCTGCCTTACCCAGTGGATGGTTGATGAAAGAGGGTACGCTGGTGGCTGTGAGGGTCAGCTCCTTCTCTTCGCTGCCTTCCATGGGGCCCAGCAAGAAGCGAACACGCTGTTTAGGAGCGGGAGGCTTCCTGGCATTGAGACCTGAACACACAGAGATAATATATACACACATACATACAAATATATGTACATATAAAATATTTTTTAAGAGACAGGGCCTCGTTCTGTAGCCCAGGCTGAAGTGCAATGGCGCCATCATAGCTCACTGTAACGTCAAACTCTTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGCACCACGATGCTGACCAGGAATATCTTGTTCTGTCCAAACACTTGGGGGATTAGACAACAGGGAAGTATGATGTAGAAGACAAAGCAGAAGCCCATGGTGCAGAGGGCAGTATAGCAGTAGTTAAGAAACAGGCGGATTCAAACAGACTCTACAACGTAGTAACCGTGTGACAAGGAACAATACTGAGTCAGTTTCCCCCTCGGAAAACAGAGGAAAGTGAGGAGTAAGAAAGCACAGAGAACAGGCGTTTGGGAAAGCGCTCTGCCCAGGTGAATAGGTCACGTGATTTTGTTTTGGGGTAAGGACCAGAAGCGGAGATGGACTTCCAAGAGAACGAGAGCGGGAACGTGGGTCTGGTTCGAGGCACTCACCCTTCAGAAGTTGTAGCTCCACTGTATCCCGCAGGTGCTTCCATTTTAGCCCCGGGGGCTTATAGACCGCGAAAAGCCCATGCAGCCGCGACAAGCCAGCAGACCCCATACTTGAAGATCACAGCACCCGCTGGACCTGGACGGAAGTACCGCCAGGCCCCGCCCCCAAATGTGGTCCTTTCCACGGGCGCCGCCATGTTCCACAGCCGGAAGAGGTTCGCATTTTATAGTCTTCGGGGAAAACCGGCTGTGGAGAAGGAAATAGGGCCCGGCGCTGAGTGAGCGTGGTTGCGTGTCCTTTGCAGACACTTTCTGGGGCGAGGTGACATGGCGAGAGTCTTGGATCGGTGGACGTAGACGGTAGACAGTTCGCGTGCGTTTCCTTCGCCTACTTGGCCTACATGCCTTCTGCCCGTGAAGCGATGTTTCCCCTCGAAAGGCCGTAGGCTACGCCGTCAGAATCGGTTTTTCAGTGAGTTTTGACCCCTCCGACGCTCCGTCGCCTGACAGAATCGCGGCGTTCTTCGTACCCGCCCATCCTCCGCGGACGCCCGCTGCCATGGCGACTCTGCTGCGCCCTGTCCTCCGTCGGCTCTGCGGGCTCCCGGGCCTACAGCGGCCTGCGGCAGGCAAGTGGCGCCGGGTTCTGGGCGCAGGCGGGAAGGAGCCTGAGGGCGCCCGGCTCCTCTGACCTCGGCCTTTTTCTTGCCCCGCAGAAATGCCCCTCCGGGCTAGGAGCGACGGCGCCGGCCCGCTATACTCGCACCACCTCCCCACCTCCCCGCTGCAGAAAGGGCTGTTGGCCGCCGGCTCCGCGGCGATGGCGCTCTATAACCCCTACCGCCACGGTAAGGCCGCCCGCGCCTCGCCCCCGTGGGGGCGGCTTGGAGCCGTTTCCTGTGGGTAACTGGAACATAGCCTAGGTCGGGGTACCCAAACCTGGTTGCAGCTCGTAACCACTCGGAACGTTTATGAAAATGCAGATTCCTGGATCCCACCTAAACGCACTGAATCTGAATCTGAATCTGCAGTGGAGGGAGAAATGGGCGTGAAACCGAAAGTCTGTCTTTAAACTACTTGGGAGAATCTGTCATGCAGCCATATTGAGAACATCTAGACTAAATAGATGATTCATAAGTACCGATCAGTTTATAATATCCTACTAGAAAGTCAACTCCGAGGTCGAGGACCATGTCTGCCTCGTTCCACTGCATCTGCAGCCTTCTGGATAGTGCCTGGCACATAGTAAATGCTCAATAAATGTTTGCTGGATGTGTGACTAGAACATTCTAGGGTTCTACAGTGTTTTTCTTATGCCTCCTAGATTTTTGAGTTCTGGGAAGTACTGTTATTCCTACTAACAAAAACAGGCTAGGCGCTATTATAGTGGCTCACGCCTATAATCCCTATCGGGGGGCCGAAGCGGGCAGATGGCTTGAGCTGAGGAGTTTGAAACCAGCCTGGGCAACACGGTGAATCCCCATCTCTACAAAAAAAAATACAAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCTGTGCGGCCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGATTTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCGGCCAAGACCAGCGAATTTTTTAATTTTTTTGTAGAGACGGCGTCTTGCCACGTTGCCCAGGCTGCTCTGGAACTCTTGGCCTCAAGTGATCCTCCTGCCTCAGCCCCCCAGTGTTGAGATTACAGGTGTCAGCCGCTACACTTGGCCACTAAGTGTTATATATATATGATTTTCATGGTTTCTCACATTAACCAGCTAAGAAAGGTGTTGTCTGCACTTCACAAATTAAGACACTGAGGCTGAAAAATGTGAAGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAATCCAAGGTGGGAGGATCACTTGGGGCCAAAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAGAAAATTTAAAAAACTAGCTGCATGCCTGTAGTCCTAGCAGTGAGCTATGATCACACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAAACAAAACAGAAATGTGAAGCAATTTGTACTAGGTCACCTAGATAGTGAACACACCTGGACTGTAGCCCAGCATCTCTGATGCCTAAGCCTCTACCAATCAATGGAGACATGATATTGTATTGTGAAAAGTGATTTATAAAATCTTTACAACGTTGTGCTAACTAGAGCTGTCCCGCCCCAGTAGATTAAGAATAAGAACTATAGATATGTATACTGATCCCTTGTTGTGTGCTGGGTAATTTGCTAAGTGTTTAGCCTGAATCCTTATAACAAAGAGCTAGACATCATCCCTAATTTATCCTGTAGGAAACAAAGGCTCAGACCAGGTCAGCTAACTTACCTAAGATGACATCCCCCATTTGTGCCCGTTTCTGTCCTTTCAGACATGGTCGCAGTTCTAGGGGAGACCACAGGACACCGCACCCTGAAGGTCCT
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ATGCCTAATATAATGCCTATGCATCACCTTGAGTGGATTCAACACAGTACTAGGTGCACAGCAAATTCAAGTTTTGCTTTTTGGAACTTTGTGTTTTTCTTCCCAAATACTGCCAATCTGAAGCTGGATCATGGGATGTGGAACTCATGGACTCAGAGGCAACTGTACTTAGTGACACGTGAAAATTACCTGAAGTTCAAATATGAATATTCATAAAGTTCTATTGGAATACAGCTAGGCTCATTCCTTTAGATACTGTCTATAGCTGTTTGGCACTACATTGGCAGAGTTGAGCAGTTCCAACGGAAATCACATGGCCTGAAAACTAAAACATTCAGTATCTGGCCCTTTCCAAGGAAATCTGCCAATTCCTGGTCTAATACCTCACTCCTCTGTGGACCTTCAAGGGCCTGGCACAGGAATCTGAGCACTGGGACACTGACTCGGCTCAGGGATTTCCTGGGAAGTGACACACAGGATCCTGCTTAAATCTGCCTTACCCAGTGGATGGTTGATGAAAGAGGGTACGCTGGTGGCTGTGAGGGTCAGCTCCTTCTCTTCGCTGCCTTCCATGGGGCCCAGCAAGAAGCGAACACGCTGTTTAGGAGCGGGAGGCTTCCTGGCATTGAGACCTGAACACACAGAGATAATATATACACACATACATACAAATATATGTACATATAAAATATTTTTTAAGAGACAGGGCCTCGTTCTGTAGCCCAGGCTGAAGTGCAATGGCGCCATCATAGCTCACTGTAACGTCAAACTCTTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGCACCACGATGCTGACCAGGAATATCTTGTTCTGTCCAAACACTTGGGGGATTAGACAACAGGGAAGTATGATGTAGAAGACAAAGCAGAAGCCCATGGTGCAGAGGGCAGTATAGCAGTAGTTAAGAAACAGGCGGATTCAAACAGACTCTACAACGTAGTAACCGTGTGACAAGGAACAATACTGAGTCAGTTTCCCCCTCGGAAAACAGAGGAAAGTGAGGAGTAAGAAAGCACAGAGAACAGGCGTTTGGGAAAGCGCTCTGCCCAGGTGAATAGGTCACGTGATTTTGTTTTGGGGTAAGGACCAGAAGCGGAGATGGACTTCCAAGAGAACGAGAGCGGGAACGTGGGTCTGGTTCGAGGCACTCACCCTTCAGAAGTTGTAGCTCCACTGTATCCCGCAGGTGCTTCCATTTTAGCCCCGGGGGCTTATAGACCGCGAAAAGCCCATGCAGCCGCGACAAGCCAGCAGACCCCATACTTGAAGATCACAGCACCCGCTGGACCTGGACGGAAGTACCGCCAGGCCCCGCCCCCAAATGTGGTCCTTTCCACGGGCGCCGCCATGTTCCACAGCCGGAAGAGGTTCGCATTTTATAGTCTTCGGGGAAAACCGGCTGTGGAGAAGGAAATAGGGCCCGGCGCTGAGTGAGCGTGGTTGCGTGTCCTTTGCAGACACTTTCTGGGGCGAGGTGACATGGCGAGAGTCTTGGATCGGTGGACGTAGACGGTAGACAGTTCGCGTGCGTTTCCTTCGCCTACTTGGCCTACATGCCTTCTGCCCGTGAAGCGATGTTTCCCCTCGAAAGGCCGTAGGCTACGCCGTCAGAATCGGTTTTTCAGTGAGTTTTGACCCCTCCGACGCTCCGTCGCCTGACAGAATCGCGGCGTTCTTCGTACCCGCCCATCCTCCGCGGACGCCCGCTGCCATGGCGACTCTGCTGCGCCCTGTCCTCCGTCGGCTCTGCGGGCTCCCGGGCCTACAGCGGCCTGCGGCAGGCAAGTGGCGCCGGGTTCTGGGCGCAGGCGGGAAGGAGCCTGAGGGCGCCCGGCTCCTCTGACCTCGGCCTTTTTCTTGCCCCGCAGAAATGCCCCTCCGGGCTAGGAGCGACGGCGCCGGCCCGCTATACTCGCACCACCTCCCCACCTCCCCGCTGCAGAAAGGGCTGTTGGCCGCCGGCTCCGCGGCGATGGCGCTCTATAACCCCTACCGCCACAGTAAGGCCGCCCGCGCCTCGCCCCCGTGGGGGCGGCTTGGAGCCGTTTCCTGTGGGTAACTGGAACATAGCCTAGGTCGGGGTACCCAAACCTGGTTGCAGCTCGTAACCACTCGGAACGTTTATGAAAATGCAGATTCCTGGATCCCACCTAAACGCACTGAATCTGAATCTGAATCTGCAGTGGAGGGAGAAATGGGCGTGAAACCGAAAGTCTGTCTTTAAACTACTTGGGAGAATCTGTCATGCAGCCATATTGAGAACATCTAGACTAAATAGATGATTCATAAGTACCGATCAGTTTATAATATCCTACTAGAAAGTCAACTCCGAGGTCGAGGACCATGTCTGCCTCGTTCCACTGCATCTGCAGCCTTCTGGATAGTGCCTGGCACATAGTAAATGCTCAATAAATGTTTGCTGGATGTGTGACTAGAACATTCTAGGGTTCTACAGTGTTTTTCTTATGCCTCCTAGATTTTTGAGTTCTGGGAAGTACTGTTATTCCTACTAACAAAAACAGGCTAGGCGCTATTATAGTGGCTCACGCCTATAATCCCTATCGGGGGGCCGAAGCGGGCAGATGGCTTGAGCTGAGGAGTTTGAAACCAGCCTGGGCAACACGGTGAATCCCCATCTCTACAAAAAAAAATACAAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCTGTGCGGCCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGATTTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCGGCCAAGACCAGCGAATTTTTTAATTTTTTTGTAGAGACGGCGTCTTGCCACGTTGCCCAGGCTGCTCTGGAACTCTTGGCCTCAAGTGATCCTCCTGCCTCAGCCCCCCAGTGTTGAGATTACAGGTGTCAGCCGCTACACTTGGCCACTAAGTGTTATATATATATGATTTTCATGGTTTCTCACATTAACCAGCTAAGAAAGGTGTTGTCTGCACTTCACAAATTAAGACACTGAGGCTGAAAAATGTGAAGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAATCCAAGGTGGGAGGATCACTTGGGGCCAAAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAGAAAATTTAAAAAACTAGCTGCATGCCTGTAGTCCTAGCAGTGAGCTATGATCACACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAAACAAAACAGAAATGTGAAGCAATTTGTACTAGGTCACCTAGATAGTGAACACACCTGGACTGTAGCCCAGCATCTCTGATGCCTAAGCCTCTACCAATCAATGGAGACATGATATTGTATTGTGAAAAGTGATTTATAAAATCTTTACAACGTTGTGCTAACTAGAGCTGTCCCGCCCCAGTAGATTAAGAATAAGAACTATAGATATGTATACTGATCCCTTGTTGTGTGCTGGGTAATTTGCTAAGTGTTTAGCCTGAATCCTTATAACAAAGAGCTAGACATCATCCCTAATTTATCCTGTAGGAAACAAAGGCTCAGACCAGGTCAGCTAACTTACCTAAGATGACATCCCCCATTTGTGCCCGTTTCTGTCCTTTCAGACATGGTCGCAGTTCTAGGGGAGACCACAGGACACCGCACCCTGAAGGTCCT
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Task1_train_13276
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Given a variant located on Chromosome 9 and affecting COQ4 (coenzyme Q4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Spastic ataxia
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TGAGCTGAGGAGTTTGAAACCAGCCTGGGCAACACGGTGAATCCCCATCTCTACAAAAAAAAATACAAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCTGTGCGGCCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGATTTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCGGCCAAGACCAGCGAATTTTTTAATTTTTTTGTAGAGACGGCGTCTTGCCACGTTGCCCAGGCTGCTCTGGAACTCTTGGCCTCAAGTGATCCTCCTGCCTCAGCCCCCCAGTGTTGAGATTACAGGTGTCAGCCGCTACACTTGGCCACTAAGTGTTATATATATATGATTTTCATGGTTTCTCACATTAACCAGCTAAGAAAGGTGTTGTCTGCACTTCACAAATTAAGACACTGAGGCTGAAAAATGTGAAGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAATCCAAGGTGGGAGGATCACTTGGGGCCAAAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAGAAAATTTAAAAAACTAGCTGCATGCCTGTAGTCCTAGCAGTGAGCTATGATCACACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAAACAAAACAGAAATGTGAAGCAATTTGTACTAGGTCACCTAGATAGTGAACACACCTGGACTGTAGCCCAGCATCTCTGATGCCTAAGCCTCTACCAATCAATGGAGACATGATATTGTATTGTGAAAAGTGATTTATAAAATCTTTACAACGTTGTGCTAACTAGAGCTGTCCCGCCCCAGTAGATTAAGAATAAGAACTATAGATATGTATACTGATCCCTTGTTGTGTGCTGGGTAATTTGCTAAGTGTTTAGCCTGAATCCTTATAACAAAGAGCTAGACATCATCCCTAATTTATCCTGTAGGAAACAAAGGCTCAGACCAGGTCAGCTAACTTACCTAAGATGACATCCCCCATTTGTGCCCGTTTCTGTCCTTTCAGACATGGTCGCAGTTCTAGGGGAGACCACAGGACACCGCACCCTGAAGGTCCTCAGGGACCAGATGAGGAGGGATCCAGAGGGTGCCCAGATCCTGCAGTAGGTCCCAGCTCTGCCTGGGGGTCTGGGGGCATTCTCTAGGTATTCTGACCTCTCTAGAATCACATTGTGTTTGTTCTGTTCCGCTAGGGAGCTTTTGATACCCTGGCTACATATGGTTGCACAGGCTGGGCACTGCCCAATTCCAGGGGTGTCATTCACATACATGTGTATACACTGATGACTTCCGAGTTGTGCAGTGTGATAGCCTTGGCCCAGTTTCAACCACAGGGCTCTGTGCCTTCATTAAGTTCCCATAACATGTGCTGGCTTTACCCCTCCCTTGCAGTACCTTTTGCAAGTACTCTGGTCACATTCGAGGACTGTCTTCCTGCCGAGATTGTACCCCTGCCCATGTCCTTGGTTTGGGGTAGTATCCTAAGTCCCTGACACTAGCCTGGCCAGTTGTAGGTGCTCCATTAAGGCTTGTGGTGGCCACATTGCTCCTCTGTACATTCTCCCGCCCCTCAGCTCGCTGTAGTTGGATCGTTCACCTACCTTTGCCCACACCCTCCCAATGCCCAAGTCTTGCCTTTCAGGGAGCGTCCCCGGATTTCGACATCCACCCTCGACCTGGGCAAGCTCCAGAGCCTGCCGGAAGGCTCCCTCGGTCGCGAGTATCTCCGTTTCCTGGATGTGAACGTGAGTTTTCAGCTCCTGTGTATCTGGCAGTCACCAGACAGGACAGAGGAATAGCACAGGCATGACACCCTGAGGAAAGAGGAGCCCTGAGCTGCCACCATTGGCAGGAGTGCTCTTCAGGCTCATGCCAAGGCTTTGTCATTTTCTATGGGATAGGCAAATGGGTGGGAACATGCCTGCAATTGATAATACTGGCCAGTGTTCATTAACCTCGCACTGCATGCCTGATGCCAGCCTCATCCGTGATCTTGCTGAATCCCCCCACAACTCTGTCAAGTATGTTCTATTATTATCCTCTTTTAGCAGATAAGGAAACAGAGGCTCAGAGCAGTGAAGCAAACTTGCTAATTCCACATAACTGGTATTAATGGAGATAGTAATCAATCCCAGATCATGCTCTTCACTGCTGTACTGTATCCCTTTATTCCAGGGACATTGCTTTCCCTACGGTATGGCAGGTGTGGCACTCTCCAGCCCCTCCAGCCCCAGGCAGGGAGGACAAGGAGAGGGGGAAAGGGGGTGTCCCGACTATTGGCAAACTCATTCACTAACTGAGGCTCTGCTATGTGCCATCCCTTTTTTTTTTTGAGTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCAGGTACACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGACCACGTGATCCGCCCGCATCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCATCCTTTTTGTTTTGTTTTGTTTTGAGACAGGGTCCCGCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCCGTCTCGGCTCACTGCAACTCAGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAACCCCCCACGTAGCTGGGACTACAGGTGCACACCACAACGCCCAGCTAATTTTTGTACTTTTAGTAGAGAGGGGTTTTACCATATTAACCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGGACTACAGGTGTGAGCCACCGTGCCCAGCCCAACCATTGTTTTGTGTACAGGGGATATAATGGTGAACTAGACAGCCAAGTTCCCTGCCCTCATTTCTATTCTACTTCGAGAGGTAGACAATAAAATAGTTTTTAAAAATTTTCAGGGAAGGCACAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGGCGGGAGGACCACCTAAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTGGAAACCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGATGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACCCGGGAGGCACAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAACAAAACAAAACAAAAAAATTCATATAAAAATACAGGTAAAATGTTTCAAGTAATTAGAATATTCTGGCACTGGTCCATGCGTGTTGGCTCATGCCTGTAATCCTAATACTTTGGGGGGCTGAAGTGGGCGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTGCAAAAAATGCAAAAATTAGCCAAGTGTGGTGGTGTATACCCATAGTCCCAGCTACCTGGGAGGGAGTTTGAGGTAGGAGGATCAGTTGAGCCCAGGAGGTCGAGGGCGGTGAGCCGTAATCACACCACTACACTCCAGCTTGGACAACAGAGCAAGACTCTGTCTCAAAAATAAAAAAAAGTATACCAGCACTATT
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TGAGCTGAGGAGTTTGAAACCAGCCTGGGCAACACGGTGAATCCCCATCTCTACAAAAAAAAATACAAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCTGTGCGGCCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGATTTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCGGCCAAGACCAGCGAATTTTTTAATTTTTTTGTAGAGACGGCGTCTTGCCACGTTGCCCAGGCTGCTCTGGAACTCTTGGCCTCAAGTGATCCTCCTGCCTCAGCCCCCCAGTGTTGAGATTACAGGTGTCAGCCGCTACACTTGGCCACTAAGTGTTATATATATATGATTTTCATGGTTTCTCACATTAACCAGCTAAGAAAGGTGTTGTCTGCACTTCACAAATTAAGACACTGAGGCTGAAAAATGTGAAGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAATCCAAGGTGGGAGGATCACTTGGGGCCAAAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAGAAAATTTAAAAAACTAGCTGCATGCCTGTAGTCCTAGCAGTGAGCTATGATCACACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAAACAAAACAGAAATGTGAAGCAATTTGTACTAGGTCACCTAGATAGTGAACACACCTGGACTGTAGCCCAGCATCTCTGATGCCTAAGCCTCTACCAATCAATGGAGACATGATATTGTATTGTGAAAAGTGATTTATAAAATCTTTACAACGTTGTGCTAACTAGAGCTGTCCCGCCCCAGTAGATTAAGAATAAGAACTATAGATATGTATACTGATCCCTTGTTGTGTGCTGGGTAATTTGCTAAGTGTTTAGCCTGAATCCTTATAACAAAGAGCTAGACATCATCCCTAATTTATCCTGTAGGAAACAAAGGCTCAGACCAGGTCAGCTAACTTACCTAAGATGACATCCCCCATTTGTGCCCGTTTCTGTCCTTTCAGACATGGTCGCAGTTCTAGGGGAGACCACAGGACACCGCACCCTGAAGGTCCTCAGGGACCAGATGAGGAGGGATCCAGAGGGTGCCCAGATCCTGCAGTAGGTCCCAGCTCTGCCTGGGGGTCTGGGGGCATTCTCTAGGTATTCTGACCTCTCTAGAATCACATTGTGTTTGTTCTGTTCCGCTAGGGAGCTTTTGATACCCTGGCTACATATGGTTGCACAGGCTGGGCACTGCCCAATTCCAGGGGTGTCATTCACATACATGTGTATACACTGATGACTTCCGAGTTGTGCAGTGTGATAGCCTTGGCCCAGTTTCAACCACAGGGCTCTGTGCCTTCATTAAGTTCCCATAACATGTGCTGGCTTTACCCCTCCCTTGCAGTACCTTTTGCAAGTACTCTGGTCACATTCGAGGACTGTCTTCCTGCCGAGATTGTACCCCTGCCCATGTCCTTGGTTTGGGGTAGTATCCTAAGTCCCTGACACTAGCCTGGCCAGTTGTAGGTGCTCCATTAAGGCTTGTGGTGGCCACATTGCTCCTCTGTACATTCTCCCGCCCCTCAGCTCGCTGTAGTTGGATCGTTCACCTACCTTTGCCCACACCCTCCCAATGCCCAAGTCTTGCCTTTCAGGGAGCATCCCCGGATTTCGACATCCACCCTCGACCTGGGCAAGCTCCAGAGCCTGCCGGAAGGCTCCCTCGGTCGCGAGTATCTCCGTTTCCTGGATGTGAACGTGAGTTTTCAGCTCCTGTGTATCTGGCAGTCACCAGACAGGACAGAGGAATAGCACAGGCATGACACCCTGAGGAAAGAGGAGCCCTGAGCTGCCACCATTGGCAGGAGTGCTCTTCAGGCTCATGCCAAGGCTTTGTCATTTTCTATGGGATAGGCAAATGGGTGGGAACATGCCTGCAATTGATAATACTGGCCAGTGTTCATTAACCTCGCACTGCATGCCTGATGCCAGCCTCATCCGTGATCTTGCTGAATCCCCCCACAACTCTGTCAAGTATGTTCTATTATTATCCTCTTTTAGCAGATAAGGAAACAGAGGCTCAGAGCAGTGAAGCAAACTTGCTAATTCCACATAACTGGTATTAATGGAGATAGTAATCAATCCCAGATCATGCTCTTCACTGCTGTACTGTATCCCTTTATTCCAGGGACATTGCTTTCCCTACGGTATGGCAGGTGTGGCACTCTCCAGCCCCTCCAGCCCCAGGCAGGGAGGACAAGGAGAGGGGGAAAGGGGGTGTCCCGACTATTGGCAAACTCATTCACTAACTGAGGCTCTGCTATGTGCCATCCCTTTTTTTTTTTGAGTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCAGGTACACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGACCACGTGATCCGCCCGCATCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCATCCTTTTTGTTTTGTTTTGTTTTGAGACAGGGTCCCGCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCCGTCTCGGCTCACTGCAACTCAGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAACCCCCCACGTAGCTGGGACTACAGGTGCACACCACAACGCCCAGCTAATTTTTGTACTTTTAGTAGAGAGGGGTTTTACCATATTAACCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGGACTACAGGTGTGAGCCACCGTGCCCAGCCCAACCATTGTTTTGTGTACAGGGGATATAATGGTGAACTAGACAGCCAAGTTCCCTGCCCTCATTTCTATTCTACTTCGAGAGGTAGACAATAAAATAGTTTTTAAAAATTTTCAGGGAAGGCACAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGGCGGGAGGACCACCTAAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTGGAAACCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGATGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACCCGGGAGGCACAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAACAAAACAAAACAAAAAAATTCATATAAAAATACAGGTAAAATGTTTCAAGTAATTAGAATATTCTGGCACTGGTCCATGCGTGTTGGCTCATGCCTGTAATCCTAATACTTTGGGGGGCTGAAGTGGGCGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTGCAAAAAATGCAAAAATTAGCCAAGTGTGGTGGTGTATACCCATAGTCCCAGCTACCTGGGAGGGAGTTTGAGGTAGGAGGATCAGTTGAGCCCAGGAGGTCGAGGGCGGTGAGCCGTAATCACACCACTACACTCCAGCTTGGACAACAGAGCAAGACTCTGTCTCAAAAATAAAAAAAAGTATACCAGCACTATT
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Task1_train_13277
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A variant found in Chromosome 9 affects COQ4 (coenzyme Q4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
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CAAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCTGTGCGGCCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGATTTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCGGCCAAGACCAGCGAATTTTTTAATTTTTTTGTAGAGACGGCGTCTTGCCACGTTGCCCAGGCTGCTCTGGAACTCTTGGCCTCAAGTGATCCTCCTGCCTCAGCCCCCCAGTGTTGAGATTACAGGTGTCAGCCGCTACACTTGGCCACTAAGTGTTATATATATATGATTTTCATGGTTTCTCACATTAACCAGCTAAGAAAGGTGTTGTCTGCACTTCACAAATTAAGACACTGAGGCTGAAAAATGTGAAGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAATCCAAGGTGGGAGGATCACTTGGGGCCAAAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAGAAAATTTAAAAAACTAGCTGCATGCCTGTAGTCCTAGCAGTGAGCTATGATCACACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAAACAAAACAGAAATGTGAAGCAATTTGTACTAGGTCACCTAGATAGTGAACACACCTGGACTGTAGCCCAGCATCTCTGATGCCTAAGCCTCTACCAATCAATGGAGACATGATATTGTATTGTGAAAAGTGATTTATAAAATCTTTACAACGTTGTGCTAACTAGAGCTGTCCCGCCCCAGTAGATTAAGAATAAGAACTATAGATATGTATACTGATCCCTTGTTGTGTGCTGGGTAATTTGCTAAGTGTTTAGCCTGAATCCTTATAACAAAGAGCTAGACATCATCCCTAATTTATCCTGTAGGAAACAAAGGCTCAGACCAGGTCAGCTAACTTACCTAAGATGACATCCCCCATTTGTGCCCGTTTCTGTCCTTTCAGACATGGTCGCAGTTCTAGGGGAGACCACAGGACACCGCACCCTGAAGGTCCTCAGGGACCAGATGAGGAGGGATCCAGAGGGTGCCCAGATCCTGCAGTAGGTCCCAGCTCTGCCTGGGGGTCTGGGGGCATTCTCTAGGTATTCTGACCTCTCTAGAATCACATTGTGTTTGTTCTGTTCCGCTAGGGAGCTTTTGATACCCTGGCTACATATGGTTGCACAGGCTGGGCACTGCCCAATTCCAGGGGTGTCATTCACATACATGTGTATACACTGATGACTTCCGAGTTGTGCAGTGTGATAGCCTTGGCCCAGTTTCAACCACAGGGCTCTGTGCCTTCATTAAGTTCCCATAACATGTGCTGGCTTTACCCCTCCCTTGCAGTACCTTTTGCAAGTACTCTGGTCACATTCGAGGACTGTCTTCCTGCCGAGATTGTACCCCTGCCCATGTCCTTGGTTTGGGGTAGTATCCTAAGTCCCTGACACTAGCCTGGCCAGTTGTAGGTGCTCCATTAAGGCTTGTGGTGGCCACATTGCTCCTCTGTACATTCTCCCGCCCCTCAGCTCGCTGTAGTTGGATCGTTCACCTACCTTTGCCCACACCCTCCCAATGCCCAAGTCTTGCCTTTCAGGGAGCGTCCCCGGATTTCGACATCCACCCTCGACCTGGGCAAGCTCCAGAGCCTGCCGGAAGGCTCCCTCGGTCGCGAGTATCTCCGTTTCCTGGATGTGAACGTGAGTTTTCAGCTCCTGTGTATCTGGCAGTCACCAGACAGGACAGAGGAATAGCACAGGCATGACACCCTGAGGAAAGAGGAGCCCTGAGCTGCCACCATTGGCAGGAGTGCTCTTCAGGCTCATGCCAAGGCTTTGTCATTTTCTATGGGATAGGCAAATGGGTGGGAACATGCCTGCAATTGATAATACTGGCCAGTGTTCATTAACCTCGCACTGCATGCCTGATGCCAGCCTCATCCGTGATCTTGCTGAATCCCCCCACAACTCTGTCAAGTATGTTCTATTATTATCCTCTTTTAGCAGATAAGGAAACAGAGGCTCAGAGCAGTGAAGCAAACTTGCTAATTCCACATAACTGGTATTAATGGAGATAGTAATCAATCCCAGATCATGCTCTTCACTGCTGTACTGTATCCCTTTATTCCAGGGACATTGCTTTCCCTACGGTATGGCAGGTGTGGCACTCTCCAGCCCCTCCAGCCCCAGGCAGGGAGGACAAGGAGAGGGGGAAAGGGGGTGTCCCGACTATTGGCAAACTCATTCACTAACTGAGGCTCTGCTATGTGCCATCCCTTTTTTTTTTTGAGTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCAGGTACACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGACCACGTGATCCGCCCGCATCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCATCCTTTTTGTTTTGTTTTGTTTTGAGACAGGGTCCCGCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCCGTCTCGGCTCACTGCAACTCAGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAACCCCCCACGTAGCTGGGACTACAGGTGCACACCACAACGCCCAGCTAATTTTTGTACTTTTAGTAGAGAGGGGTTTTACCATATTAACCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGGACTACAGGTGTGAGCCACCGTGCCCAGCCCAACCATTGTTTTGTGTACAGGGGATATAATGGTGAACTAGACAGCCAAGTTCCCTGCCCTCATTTCTATTCTACTTCGAGAGGTAGACAATAAAATAGTTTTTAAAAATTTTCAGGGAAGGCACAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGGCGGGAGGACCACCTAAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTGGAAACCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGATGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACCCGGGAGGCACAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAACAAAACAAAACAAAAAAATTCATATAAAAATACAGGTAAAATGTTTCAAGTAATTAGAATATTCTGGCACTGGTCCATGCGTGTTGGCTCATGCCTGTAATCCTAATACTTTGGGGGGCTGAAGTGGGCGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTGCAAAAAATGCAAAAATTAGCCAAGTGTGGTGGTGTATACCCATAGTCCCAGCTACCTGGGAGGGAGTTTGAGGTAGGAGGATCAGTTGAGCCCAGGAGGTCGAGGGCGGTGAGCCGTAATCACACCACTACACTCCAGCTTGGACAACAGAGCAAGACTCTGTCTCAAAAATAAAAAAAAGTATACCAGCACTATTGTCAGCAGTTGGGATACAGTGGACAAAACCAGCAAAAAGCCTGCCTTTGTGGAACTTACATTCTA
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CAAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCTGTGCGGCCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGATTTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCGGCCAAGACCAGCGAATTTTTTAATTTTTTTGTAGAGACGGCGTCTTGCCACGTTGCCCAGGCTGCTCTGGAACTCTTGGCCTCAAGTGATCCTCCTGCCTCAGCCCCCCAGTGTTGAGATTACAGGTGTCAGCCGCTACACTTGGCCACTAAGTGTTATATATATATGATTTTCATGGTTTCTCACATTAACCAGCTAAGAAAGGTGTTGTCTGCACTTCACAAATTAAGACACTGAGGCTGAAAAATGTGAAGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAATCCAAGGTGGGAGGATCACTTGGGGCCAAAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAGAAAATTTAAAAAACTAGCTGCATGCCTGTAGTCCTAGCAGTGAGCTATGATCACACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAAACAAAACAGAAATGTGAAGCAATTTGTACTAGGTCACCTAGATAGTGAACACACCTGGACTGTAGCCCAGCATCTCTGATGCCTAAGCCTCTACCAATCAATGGAGACATGATATTGTATTGTGAAAAGTGATTTATAAAATCTTTACAACGTTGTGCTAACTAGAGCTGTCCCGCCCCAGTAGATTAAGAATAAGAACTATAGATATGTATACTGATCCCTTGTTGTGTGCTGGGTAATTTGCTAAGTGTTTAGCCTGAATCCTTATAACAAAGAGCTAGACATCATCCCTAATTTATCCTGTAGGAAACAAAGGCTCAGACCAGGTCAGCTAACTTACCTAAGATGACATCCCCCATTTGTGCCCGTTTCTGTCCTTTCAGACATGGTCGCAGTTCTAGGGGAGACCACAGGACACCGCACCCTGAAGGTCCTCAGGGACCAGATGAGGAGGGATCCAGAGGGTGCCCAGATCCTGCAGTAGGTCCCAGCTCTGCCTGGGGGTCTGGGGGCATTCTCTAGGTATTCTGACCTCTCTAGAATCACATTGTGTTTGTTCTGTTCCGCTAGGGAGCTTTTGATACCCTGGCTACATATGGTTGCACAGGCTGGGCACTGCCCAATTCCAGGGGTGTCATTCACATACATGTGTATACACTGATGACTTCCGAGTTGTGCAGTGTGATAGCCTTGGCCCAGTTTCAACCACAGGGCTCTGTGCCTTCATTAAGTTCCCATAACATGTGCTGGCTTTACCCCTCCCTTGCAGTACCTTTTGCAAGTACTCTGGTCACATTCGAGGACTGTCTTCCTGCCGAGATTGTACCCCTGCCCATGTCCTTGGTTTGGGGTAGTATCCTAAGTCCCTGACACTAGCCTGGCCAGTTGTAGGTGCTCCATTAAGGCTTGTGGTGGCCACATTGCTCCTCTGTACATTCTCCCGCCCCTCAGCTCGCTGTAGTTGGATCGTTCACCTACCTTTGCCCACACCCTCCCAATGCCCAAGTCTTGCCTTTCAGGGAGCGTCCCCGGATTTCGACATCCACCCTCGACCTGGGCAAGCTCCAGAGCCTGCCGGAAGGCTCCCTCAGTCGCGAGTATCTCCGTTTCCTGGATGTGAACGTGAGTTTTCAGCTCCTGTGTATCTGGCAGTCACCAGACAGGACAGAGGAATAGCACAGGCATGACACCCTGAGGAAAGAGGAGCCCTGAGCTGCCACCATTGGCAGGAGTGCTCTTCAGGCTCATGCCAAGGCTTTGTCATTTTCTATGGGATAGGCAAATGGGTGGGAACATGCCTGCAATTGATAATACTGGCCAGTGTTCATTAACCTCGCACTGCATGCCTGATGCCAGCCTCATCCGTGATCTTGCTGAATCCCCCCACAACTCTGTCAAGTATGTTCTATTATTATCCTCTTTTAGCAGATAAGGAAACAGAGGCTCAGAGCAGTGAAGCAAACTTGCTAATTCCACATAACTGGTATTAATGGAGATAGTAATCAATCCCAGATCATGCTCTTCACTGCTGTACTGTATCCCTTTATTCCAGGGACATTGCTTTCCCTACGGTATGGCAGGTGTGGCACTCTCCAGCCCCTCCAGCCCCAGGCAGGGAGGACAAGGAGAGGGGGAAAGGGGGTGTCCCGACTATTGGCAAACTCATTCACTAACTGAGGCTCTGCTATGTGCCATCCCTTTTTTTTTTTGAGTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCAGGTACACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGACCACGTGATCCGCCCGCATCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCATCCTTTTTGTTTTGTTTTGTTTTGAGACAGGGTCCCGCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCCGTCTCGGCTCACTGCAACTCAGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAACCCCCCACGTAGCTGGGACTACAGGTGCACACCACAACGCCCAGCTAATTTTTGTACTTTTAGTAGAGAGGGGTTTTACCATATTAACCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGGACTACAGGTGTGAGCCACCGTGCCCAGCCCAACCATTGTTTTGTGTACAGGGGATATAATGGTGAACTAGACAGCCAAGTTCCCTGCCCTCATTTCTATTCTACTTCGAGAGGTAGACAATAAAATAGTTTTTAAAAATTTTCAGGGAAGGCACAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGGCGGGAGGACCACCTAAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTGGAAACCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGATGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACCCGGGAGGCACAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAACAAAACAAAACAAAAAAATTCATATAAAAATACAGGTAAAATGTTTCAAGTAATTAGAATATTCTGGCACTGGTCCATGCGTGTTGGCTCATGCCTGTAATCCTAATACTTTGGGGGGCTGAAGTGGGCGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTGCAAAAAATGCAAAAATTAGCCAAGTGTGGTGGTGTATACCCATAGTCCCAGCTACCTGGGAGGGAGTTTGAGGTAGGAGGATCAGTTGAGCCCAGGAGGTCGAGGGCGGTGAGCCGTAATCACACCACTACACTCCAGCTTGGACAACAGAGCAAGACTCTGTCTCAAAAATAAAAAAAAGTATACCAGCACTATTGTCAGCAGTTGGGATACAGTGGACAAAACCAGCAAAAAGCCTGCCTTTGTGGAACTTACATTCTA
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Task1_train_13278
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With a mutation on Chromosome 9 in gene COQ4 (coenzyme Q4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
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AAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCTGTGCGGCCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGATTTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCGGCCAAGACCAGCGAATTTTTTAATTTTTTTGTAGAGACGGCGTCTTGCCACGTTGCCCAGGCTGCTCTGGAACTCTTGGCCTCAAGTGATCCTCCTGCCTCAGCCCCCCAGTGTTGAGATTACAGGTGTCAGCCGCTACACTTGGCCACTAAGTGTTATATATATATGATTTTCATGGTTTCTCACATTAACCAGCTAAGAAAGGTGTTGTCTGCACTTCACAAATTAAGACACTGAGGCTGAAAAATGTGAAGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAATCCAAGGTGGGAGGATCACTTGGGGCCAAAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAGAAAATTTAAAAAACTAGCTGCATGCCTGTAGTCCTAGCAGTGAGCTATGATCACACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAAACAAAACAGAAATGTGAAGCAATTTGTACTAGGTCACCTAGATAGTGAACACACCTGGACTGTAGCCCAGCATCTCTGATGCCTAAGCCTCTACCAATCAATGGAGACATGATATTGTATTGTGAAAAGTGATTTATAAAATCTTTACAACGTTGTGCTAACTAGAGCTGTCCCGCCCCAGTAGATTAAGAATAAGAACTATAGATATGTATACTGATCCCTTGTTGTGTGCTGGGTAATTTGCTAAGTGTTTAGCCTGAATCCTTATAACAAAGAGCTAGACATCATCCCTAATTTATCCTGTAGGAAACAAAGGCTCAGACCAGGTCAGCTAACTTACCTAAGATGACATCCCCCATTTGTGCCCGTTTCTGTCCTTTCAGACATGGTCGCAGTTCTAGGGGAGACCACAGGACACCGCACCCTGAAGGTCCTCAGGGACCAGATGAGGAGGGATCCAGAGGGTGCCCAGATCCTGCAGTAGGTCCCAGCTCTGCCTGGGGGTCTGGGGGCATTCTCTAGGTATTCTGACCTCTCTAGAATCACATTGTGTTTGTTCTGTTCCGCTAGGGAGCTTTTGATACCCTGGCTACATATGGTTGCACAGGCTGGGCACTGCCCAATTCCAGGGGTGTCATTCACATACATGTGTATACACTGATGACTTCCGAGTTGTGCAGTGTGATAGCCTTGGCCCAGTTTCAACCACAGGGCTCTGTGCCTTCATTAAGTTCCCATAACATGTGCTGGCTTTACCCCTCCCTTGCAGTACCTTTTGCAAGTACTCTGGTCACATTCGAGGACTGTCTTCCTGCCGAGATTGTACCCCTGCCCATGTCCTTGGTTTGGGGTAGTATCCTAAGTCCCTGACACTAGCCTGGCCAGTTGTAGGTGCTCCATTAAGGCTTGTGGTGGCCACATTGCTCCTCTGTACATTCTCCCGCCCCTCAGCTCGCTGTAGTTGGATCGTTCACCTACCTTTGCCCACACCCTCCCAATGCCCAAGTCTTGCCTTTCAGGGAGCGTCCCCGGATTTCGACATCCACCCTCGACCTGGGCAAGCTCCAGAGCCTGCCGGAAGGCTCCCTCGGTCGCGAGTATCTCCGTTTCCTGGATGTGAACGTGAGTTTTCAGCTCCTGTGTATCTGGCAGTCACCAGACAGGACAGAGGAATAGCACAGGCATGACACCCTGAGGAAAGAGGAGCCCTGAGCTGCCACCATTGGCAGGAGTGCTCTTCAGGCTCATGCCAAGGCTTTGTCATTTTCTATGGGATAGGCAAATGGGTGGGAACATGCCTGCAATTGATAATACTGGCCAGTGTTCATTAACCTCGCACTGCATGCCTGATGCCAGCCTCATCCGTGATCTTGCTGAATCCCCCCACAACTCTGTCAAGTATGTTCTATTATTATCCTCTTTTAGCAGATAAGGAAACAGAGGCTCAGAGCAGTGAAGCAAACTTGCTAATTCCACATAACTGGTATTAATGGAGATAGTAATCAATCCCAGATCATGCTCTTCACTGCTGTACTGTATCCCTTTATTCCAGGGACATTGCTTTCCCTACGGTATGGCAGGTGTGGCACTCTCCAGCCCCTCCAGCCCCAGGCAGGGAGGACAAGGAGAGGGGGAAAGGGGGTGTCCCGACTATTGGCAAACTCATTCACTAACTGAGGCTCTGCTATGTGCCATCCCTTTTTTTTTTTGAGTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCAGGTACACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGACCACGTGATCCGCCCGCATCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCATCCTTTTTGTTTTGTTTTGTTTTGAGACAGGGTCCCGCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCCGTCTCGGCTCACTGCAACTCAGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAACCCCCCACGTAGCTGGGACTACAGGTGCACACCACAACGCCCAGCTAATTTTTGTACTTTTAGTAGAGAGGGGTTTTACCATATTAACCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGGACTACAGGTGTGAGCCACCGTGCCCAGCCCAACCATTGTTTTGTGTACAGGGGATATAATGGTGAACTAGACAGCCAAGTTCCCTGCCCTCATTTCTATTCTACTTCGAGAGGTAGACAATAAAATAGTTTTTAAAAATTTTCAGGGAAGGCACAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGGCGGGAGGACCACCTAAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTGGAAACCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGATGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACCCGGGAGGCACAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAACAAAACAAAACAAAAAAATTCATATAAAAATACAGGTAAAATGTTTCAAGTAATTAGAATATTCTGGCACTGGTCCATGCGTGTTGGCTCATGCCTGTAATCCTAATACTTTGGGGGGCTGAAGTGGGCGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTGCAAAAAATGCAAAAATTAGCCAAGTGTGGTGGTGTATACCCATAGTCCCAGCTACCTGGGAGGGAGTTTGAGGTAGGAGGATCAGTTGAGCCCAGGAGGTCGAGGGCGGTGAGCCGTAATCACACCACTACACTCCAGCTTGGACAACAGAGCAAGACTCTGTCTCAAAAATAAAAAAAAGTATACCAGCACTATTGTCAGCAGTTGGGATACAGTGGACAAAACCAGCAAAAAGCCTGCCTTTGTGGAACTTACATTCTAG
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AAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCCTGTGCGGCCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGATTTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCCGGCCAAGACCAGCGAATTTTTTAATTTTTTTGTAGAGACGGCGTCTTGCCACGTTGCCCAGGCTGCTCTGGAACTCTTGGCCTCAAGTGATCCTCCTGCCTCAGCCCCCCAGTGTTGAGATTACAGGTGTCAGCCGCTACACTTGGCCACTAAGTGTTATATATATATGATTTTCATGGTTTCTCACATTAACCAGCTAAGAAAGGTGTTGTCTGCACTTCACAAATTAAGACACTGAGGCTGAAAAATGTGAAGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAATCCAAGGTGGGAGGATCACTTGGGGCCAAAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAGAAAATTTAAAAAACTAGCTGCATGCCTGTAGTCCTAGCAGTGAGCTATGATCACACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAAACAAAACAGAAATGTGAAGCAATTTGTACTAGGTCACCTAGATAGTGAACACACCTGGACTGTAGCCCAGCATCTCTGATGCCTAAGCCTCTACCAATCAATGGAGACATGATATTGTATTGTGAAAAGTGATTTATAAAATCTTTACAACGTTGTGCTAACTAGAGCTGTCCCGCCCCAGTAGATTAAGAATAAGAACTATAGATATGTATACTGATCCCTTGTTGTGTGCTGGGTAATTTGCTAAGTGTTTAGCCTGAATCCTTATAACAAAGAGCTAGACATCATCCCTAATTTATCCTGTAGGAAACAAAGGCTCAGACCAGGTCAGCTAACTTACCTAAGATGACATCCCCCATTTGTGCCCGTTTCTGTCCTTTCAGACATGGTCGCAGTTCTAGGGGAGACCACAGGACACCGCACCCTGAAGGTCCTCAGGGACCAGATGAGGAGGGATCCAGAGGGTGCCCAGATCCTGCAGTAGGTCCCAGCTCTGCCTGGGGGTCTGGGGGCATTCTCTAGGTATTCTGACCTCTCTAGAATCACATTGTGTTTGTTCTGTTCCGCTAGGGAGCTTTTGATACCCTGGCTACATATGGTTGCACAGGCTGGGCACTGCCCAATTCCAGGGGTGTCATTCACATACATGTGTATACACTGATGACTTCCGAGTTGTGCAGTGTGATAGCCTTGGCCCAGTTTCAACCACAGGGCTCTGTGCCTTCATTAAGTTCCCATAACATGTGCTGGCTTTACCCCTCCCTTGCAGTACCTTTTGCAAGTACTCTGGTCACATTCGAGGACTGTCTTCCTGCCGAGATTGTACCCCTGCCCATGTCCTTGGTTTGGGGTAGTATCCTAAGTCCCTGACACTAGCCTGGCCAGTTGTAGGTGCTCCATTAAGGCTTGTGGTGGCCACATTGCTCCTCTGTACATTCTCCCGCCCCTCAGCTCGCTGTAGTTGGATCGTTCACCTACCTTTGCCCACACCCTCCCAATGCCCAAGTCTTGCCTTTCAGGGAGCGTCCCCGGATTTCGACATCCACCCTCGACCTGGGCAAGCTCCAGAGCCTGCCGGAAGGCTCCCTCGTTCGCGAGTATCTCCGTTTCCTGGATGTGAACGTGAGTTTTCAGCTCCTGTGTATCTGGCAGTCACCAGACAGGACAGAGGAATAGCACAGGCATGACACCCTGAGGAAAGAGGAGCCCTGAGCTGCCACCATTGGCAGGAGTGCTCTTCAGGCTCATGCCAAGGCTTTGTCATTTTCTATGGGATAGGCAAATGGGTGGGAACATGCCTGCAATTGATAATACTGGCCAGTGTTCATTAACCTCGCACTGCATGCCTGATGCCAGCCTCATCCGTGATCTTGCTGAATCCCCCCACAACTCTGTCAAGTATGTTCTATTATTATCCTCTTTTAGCAGATAAGGAAACAGAGGCTCAGAGCAGTGAAGCAAACTTGCTAATTCCACATAACTGGTATTAATGGAGATAGTAATCAATCCCAGATCATGCTCTTCACTGCTGTACTGTATCCCTTTATTCCAGGGACATTGCTTTCCCTACGGTATGGCAGGTGTGGCACTCTCCAGCCCCTCCAGCCCCAGGCAGGGAGGACAAGGAGAGGGGGAAAGGGGGTGTCCCGACTATTGGCAAACTCATTCACTAACTGAGGCTCTGCTATGTGCCATCCCTTTTTTTTTTTGAGTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCAGGTACACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGACCACGTGATCCGCCCGCATCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCATCCTTTTTGTTTTGTTTTGTTTTGAGACAGGGTCCCGCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCCGTCTCGGCTCACTGCAACTCAGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAACCCCCCACGTAGCTGGGACTACAGGTGCACACCACAACGCCCAGCTAATTTTTGTACTTTTAGTAGAGAGGGGTTTTACCATATTAACCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGGACTACAGGTGTGAGCCACCGTGCCCAGCCCAACCATTGTTTTGTGTACAGGGGATATAATGGTGAACTAGACAGCCAAGTTCCCTGCCCTCATTTCTATTCTACTTCGAGAGGTAGACAATAAAATAGTTTTTAAAAATTTTCAGGGAAGGCACAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGGCGGGAGGACCACCTAAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTGGAAACCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGATGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACCCGGGAGGCACAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAACAAAACAAAACAAAAAAATTCATATAAAAATACAGGTAAAATGTTTCAAGTAATTAGAATATTCTGGCACTGGTCCATGCGTGTTGGCTCATGCCTGTAATCCTAATACTTTGGGGGGCTGAAGTGGGCGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTGCAAAAAATGCAAAAATTAGCCAAGTGTGGTGGTGTATACCCATAGTCCCAGCTACCTGGGAGGGAGTTTGAGGTAGGAGGATCAGTTGAGCCCAGGAGGTCGAGGGCGGTGAGCCGTAATCACACCACTACACTCCAGCTTGGACAACAGAGCAAGACTCTGTCTCAAAAATAAAAAAAAGTATACCAGCACTATTGTCAGCAGTTGGGATACAGTGGACAAAACCAGCAAAAAGCCTGCCTTTGTGGAACTTACATTCTAG
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Task1_train_13279
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Gene COQ4 (coenzyme Q4), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
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CCCAGGCGGGTGGATCACGAAGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAATTAGCCGGGTGTAGTGGCACGTGCCTGTAATCCTAGCTACTCAGGAAGCTGAGGCAGAAGAATTGCTTGAATCCGGGAGGAGGAGATTGCAGTAAGCCGAGATTGCACCACGGCACTCCAACCTGGGCGACAGAGTGAGACTCCATCTCAAAAAATAAAAATAAAAATAAATAAATAAAATGTGAGCACGTAGGTAATTTTTAATTTTCTGCCAGCTACTTTAATAGCAAAAAGAAATTAATTTTTTTGCTATTAAAATTAAGGTGGAATTTTTTTGTTTGTTTTTTTGAGATAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCAGCTCACTGCAACCTCTGCCTTCTGGGATCAAGCAATTCTCTTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTTTTGACCATATTGGTCAGGCTGGCCTTGAGCTCCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTGTAACCATGAGTCACCGTGCCTGGCTAGAATTGATTTTAAATATGCATCTTGTTTAGCCCAATATATCCAAAGTATTATTTCAACAAGTAATCAATTTTCTTTTTTTTTTTTTTTTTGAGACGAAGTCTCACTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGCTTACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCGCCACGCCCGGAGAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTATTTTTAAATCATTGAGAGTTTTACATTTTTTTCATACTAAGCATTTGAAGTCTCGTGTGTATTTTATATGATCAGCACATCTCGCTTGGACAACTTTCTTGGCCACATGTGGCAAGCGGCTGCCATACTGGACAGTGTAGGTCTAGGAGACATTAATACTCACATCCACTAAACATCAAGGTACAGTTATTTTGAGTGCCACTAAGAGGTGAATGATGTTTCCAGAGACCATAACATGAACCCACTTGGTCTGTAGGTTAGGGGTGGCCTCTCTGTGGTGGGGGGAAGGGATGGGGGACAGGGGACACTTAACCCAGGTCATGAAGGATAAGTAGGAGTTACCACAGTGAAGATGGAGGTAGTGGGAGAGAACACCCCAAGCTGGGAGCAAGTTATGCTAGGATCAGGGTCTTTGGGGCTTCATTATTTATTTTTAGAGACAATGTCTTGCTTGAGTGCAGTGGTATAGTCATAGCTCCCTGTAACCTCAAACTCCTGGGCTCAAGCATCCTCCTGTCCCAAGCCTCCTGAGTAGCTGGGACTATAGGCACACACCACCACACCTGACTAATTTTTGTATTTTTTTTGTTCTGGGTTTTTTTTTTCTTTGAGACAGAGTCTCTGTCACCCAGGCAGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCACACCCGGCTAATTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTATTGGTCAGGCTGGTGTTGAACTCCTGATCTCAGGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTTACAGGCATGAGCCTCGGCCCCTGGCCAGTCGCCAGAGTTTTCTAGTAGGTATGAGTTAGGTGAGAGTTGTGACGGTGTCAGAGACAGACTGGCAAATCGGGCCCTGGGAACCATCAGGAAGGGTTCTAGGGGAGGCTCATGGTTGTCAGAGGGTCTCCCCAGACACCCGAGCACCCACCCGCTTCGTGGATGATGAGGAGCTAGCGTATGTGATTCAGCGGTACCGGGAGGTGCACGACATGCTTCACACCCTGCTGGGGATGCCCACCAACATCCTGGGTGAGTGCCCCCAACCCTGATGGCCTGTCTCCCTGGGGTGGCTTCAGGGCCAGGGCAGGGCTTGCCTATCTCCACCACCCTCTGCATCACCTGGCTTGGTGCCTCAATTTCTGCTTTACCTGAACATCTTAGTAGCATCTTTGCCACATGTCCCCCTTCTTTCTCCCACTGCCCCTCAGGGCTCCTGCACTAATGGAGCAGCAGAGCCCATCTTCAAGGCTCCTGGTGTCTTTTTAGGCTTTAGCTGCCTCCCTGCTCTGAAACCTCAGTAGCTCCCTAAGGCCTGCAGGAACCATCCTGGAGTGTTTAGCCTGGCTTATGGGGTCATGGGGTCCTCTGCGCCCTGACCCCAGGCTTCCTTTCCATCCCCTACTCCCTTCTGTTCACTCTTGGGCTCTCTCCTGTACTCCAAGCCAAGTGCCCCAGGGCCCAGCACAGGCCAGGACTGGGCACAGCTGACCCCGTAGAGATTAGGGAGGAACAGTGCCTCTCTTTACCCTGCTGTGAGCACCACTGGCCTTTCCTTCAGATAGCTTGTTCACCTCCCAACACATCCCTCACCCACAGGGGAGATCGTGGTGAAATGGTTTGAGGCTGTCCAGACTGGCCTGCCCATGTGCATCCTGGGTGCATTCTTTGGACCGATCCGACTTGGCGCTCAGTAAGTTTTCAAGTGGTAGCTGGGTCGGGGTTGAGGGTGGTATCAGGACAGAACTCAGAGGGACCAGGGCTCTTAGAAGTAGGAAGAGCACACGGGCCCCTGCACAGCCCGTTCCAGTTCTCCAGGAAGTAAGGGTAGAAAGAATGGAGCAGAGATGTGAAACTGGCCTGGGGCAAGGGTCTTCAAGTGAGCAAATAAAGCCTGTACATTTCACAGGACTCTGGGGTCTCTTGGGCCAGGCCTAAGTGCATGGTCAGAATGATGAGCGTCAGTGGGAAGGCAGGTTGGTGTTAGATTCTGGAGTGAGGGAGCCATGATTTAAATCTGAGCTTCGACATGTTCAAGATGTGTGGCTTTGGGCTTGAGATTCCACCTCACTGAGCTCTGTTGCCTCATCTAAAAAGCAGGGATAATAACTACCTCCTTCCGAGGCCTTTGTGAGGATGAACTGAGAAAATGCACAAGTGCCGAGCAGTCGAGTGCCTGGCCCCAGGGACTTGATGTTTTCTTTTTCCTCTGCTGCCCCACAGGAGCCTGCAAGTGCTGGTCTCGGAGTTGATCCCATGGGCCGTTCAGAACGGGCGCAGAGCCCCATGTGTCCTCAACCTGTACTATGAGCGGCGCTGGGAGCAGTCCCTGAGGGCTCTGCGGGAGGAGCTGGGCATTACAGCACCACCCATGCACGTCCAGGGCTTGGCCTGAGCTCCTGAGCCAGCGGGGCCTGGCCTACCTCCCCCATCCCCTGCTTCCCTTGGAGGCAGAGGGCTCCCTTGACTACCTTTGTTCCTCTTCTTTGAACACTGACCCTTGGACAACATTTATCATAATTTGTCATAACCACTGCTGAGTGGCCTTGAGGACGAACCCCGCAGGGAGCAAGCAGTACAGTGGCATTCCCAGGGGGACCAGCAGCTACCCAAGGAGAACCATGCATGAACAGTATCAGTCGTCTGGGCTCATGCTGGGATGTCGCAGTGCTCCTGTTGCAACTCCTCCCAGCCAGCCAGGTTTGCTGGGGGCCAGGCTGGGTGTCCTCACAGGAGTGAGGGCTACACCCAATTCCAAAAGCCTGAGAAGAGAGAAGTGGAGGGGGAGGCGAGTGTGTGAATAAAGGCTCCCATCAGGTCAAGTGTCTGCTTGTCCTCCTTTCCCCCAGGGATGCCCCTGACTTTGGCACTCTTGCGCCTTCCAAGCACCCTAGTGCTTGGAAGTAGAAGTTTCCCTCCCAGCCTGGGCTCTAGCTGCTTGTCCCCTCTCCTCTGGCCGAAGTTGGGTGGACATGGATTC
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CCCAGGCGGGTGGATCACGAAGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAATTAGCCGGGTGTAGTGGCACGTGCCTGTAATCCTAGCTACTCAGGAAGCTGAGGCAGAAGAATTGCTTGAATCCGGGAGGAGGAGATTGCAGTAAGCCGAGATTGCACCACGGCACTCCAACCTGGGCGACAGAGTGAGACTCCATCTCAAAAAATAAAAATAAAAATAAATAAATAAAATGTGAGCACGTAGGTAATTTTTAATTTTCTGCCAGCTACTTTAATAGCAAAAAGAAATTAATTTTTTTGCTATTAAAATTAAGGTGGAATTTTTTTGTTTGTTTTTTTGAGATAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCAGCTCACTGCAACCTCTGCCTTCTGGGATCAAGCAATTCTCTTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTTTTGACCATATTGGTCAGGCTGGCCTTGAGCTCCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTGTAACCATGAGTCACCGTGCCTGGCTAGAATTGATTTTAAATATGCATCTTGTTTAGCCCAATATATCCAAAGTATTATTTCAACAAGTAATCAATTTTCTTTTTTTTTTTTTTTTTGAGACGAAGTCTCACTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGCTTACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCGCCACGCCCGGAGAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTATTTTTAAATCATTGAGAGTTTTACATTTTTTTCATACTAAGCATTTGAAGTCTCGTGTGTATTTTATATGATCAGCACATCTCGCTTGGACAACTTTCTTGGCCACATGTGGCAAGCGGCTGCCATACTGGACAGTGTAGGTCTAGGAGACATTAATACTCACATCCACTAAACATCAAGGTACAGTTATTTTGAGTGCCACTAAGAGGTGAATGATGTTTCCAGAGACCATAACATGAACCCACTTGGTCTGTAGGTTAGGGGTGGCCTCTCTGTGGTGGGGGGAAGGGATGGGGGACAGGGGACACTTAACCCAGGTCATGAAGGATAAGTAGGAGTTACCACAGTGAAGATGGAGGTAGTGGGAGAGAACACCCCAAGCTGGGAGCAAGTTATGCTAGGATCAGGGTCTTTGGGGCTTCATTATTTATTTTTAGAGACAATGTCTTGCTTGAGTGCAGTGGTATAGTCATAGCTCCCTGTAACCTCAAACTCCTGGGCTCAAGCATCCTCCTGTCCCAAGCCTCCTGAGTAGCTGGGACTATAGGCACACACCACCACACCTGACTAATTTTTGTATTTTTTTTGTTCTGGGTTTTTTTTTTCTTTGAGACAGAGTCTCTGTCACCCAGGCAGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCACACCCGGCTAATTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTATTGGTCAGGCTGGTGTTGAACTCCTGATCTCAGGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTTACAGGCATGAGCCTCGGCCCCTGGCCAGTCGCCAGAGTTTTCTAGTAGGTATGAGTTAGGTGAGAGTTGTGACGGTGTCAGAGACAGACTGGCAAATCGGGCCCTGGGAACCATCAGGAAGGGTTCTAGGGGAGGCTCATGGTTGTCAGAGGGTCTCCCCAGACACCCGAGCACCCACCGGCTTCGTGGATGATGAGGAGCTAGCGTATGTGATTCAGCGGTACCGGGAGGTGCACGACATGCTTCACACCCTGCTGGGGATGCCCACCAACATCCTGGGTGAGTGCCCCCAACCCTGATGGCCTGTCTCCCTGGGGTGGCTTCAGGGCCAGGGCAGGGCTTGCCTATCTCCACCACCCTCTGCATCACCTGGCTTGGTGCCTCAATTTCTGCTTTACCTGAACATCTTAGTAGCATCTTTGCCACATGTCCCCCTTCTTTCTCCCACTGCCCCTCAGGGCTCCTGCACTAATGGAGCAGCAGAGCCCATCTTCAAGGCTCCTGGTGTCTTTTTAGGCTTTAGCTGCCTCCCTGCTCTGAAACCTCAGTAGCTCCCTAAGGCCTGCAGGAACCATCCTGGAGTGTTTAGCCTGGCTTATGGGGTCATGGGGTCCTCTGCGCCCTGACCCCAGGCTTCCTTTCCATCCCCTACTCCCTTCTGTTCACTCTTGGGCTCTCTCCTGTACTCCAAGCCAAGTGCCCCAGGGCCCAGCACAGGCCAGGACTGGGCACAGCTGACCCCGTAGAGATTAGGGAGGAACAGTGCCTCTCTTTACCCTGCTGTGAGCACCACTGGCCTTTCCTTCAGATAGCTTGTTCACCTCCCAACACATCCCTCACCCACAGGGGAGATCGTGGTGAAATGGTTTGAGGCTGTCCAGACTGGCCTGCCCATGTGCATCCTGGGTGCATTCTTTGGACCGATCCGACTTGGCGCTCAGTAAGTTTTCAAGTGGTAGCTGGGTCGGGGTTGAGGGTGGTATCAGGACAGAACTCAGAGGGACCAGGGCTCTTAGAAGTAGGAAGAGCACACGGGCCCCTGCACAGCCCGTTCCAGTTCTCCAGGAAGTAAGGGTAGAAAGAATGGAGCAGAGATGTGAAACTGGCCTGGGGCAAGGGTCTTCAAGTGAGCAAATAAAGCCTGTACATTTCACAGGACTCTGGGGTCTCTTGGGCCAGGCCTAAGTGCATGGTCAGAATGATGAGCGTCAGTGGGAAGGCAGGTTGGTGTTAGATTCTGGAGTGAGGGAGCCATGATTTAAATCTGAGCTTCGACATGTTCAAGATGTGTGGCTTTGGGCTTGAGATTCCACCTCACTGAGCTCTGTTGCCTCATCTAAAAAGCAGGGATAATAACTACCTCCTTCCGAGGCCTTTGTGAGGATGAACTGAGAAAATGCACAAGTGCCGAGCAGTCGAGTGCCTGGCCCCAGGGACTTGATGTTTTCTTTTTCCTCTGCTGCCCCACAGGAGCCTGCAAGTGCTGGTCTCGGAGTTGATCCCATGGGCCGTTCAGAACGGGCGCAGAGCCCCATGTGTCCTCAACCTGTACTATGAGCGGCGCTGGGAGCAGTCCCTGAGGGCTCTGCGGGAGGAGCTGGGCATTACAGCACCACCCATGCACGTCCAGGGCTTGGCCTGAGCTCCTGAGCCAGCGGGGCCTGGCCTACCTCCCCCATCCCCTGCTTCCCTTGGAGGCAGAGGGCTCCCTTGACTACCTTTGTTCCTCTTCTTTGAACACTGACCCTTGGACAACATTTATCATAATTTGTCATAACCACTGCTGAGTGGCCTTGAGGACGAACCCCGCAGGGAGCAAGCAGTACAGTGGCATTCCCAGGGGGACCAGCAGCTACCCAAGGAGAACCATGCATGAACAGTATCAGTCGTCTGGGCTCATGCTGGGATGTCGCAGTGCTCCTGTTGCAACTCCTCCCAGCCAGCCAGGTTTGCTGGGGGCCAGGCTGGGTGTCCTCACAGGAGTGAGGGCTACACCCAATTCCAAAAGCCTGAGAAGAGAGAAGTGGAGGGGGAGGCGAGTGTGTGAATAAAGGCTCCCATCAGGTCAAGTGTCTGCTTGTCCTCCTTTCCCCCAGGGATGCCCCTGACTTTGGCACTCTTGCGCCTTCCAAGCACCCTAGTGCTTGGAAGTAGAAGTTTCCCTCCCAGCCTGGGCTCTAGCTGCTTGTCCCCTCTCCTCTGGCCGAAGTTGGGTGGACATGGATTC
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Task1_train_13280
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This variant affects gene SLC27A4 (solute carrier family 27 member 4) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
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Pathogenic; Ichthyosis prematurity syndrome
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GTTGTTCCTCTACTTGGGATCTGGCGGCTGGCGCTTCATCCGGGTCTTCATCAAGACCATCAGGCGCGATATCTTGTGAGTACCTGGCCCAGCCTTTCCTGGGGTCTGCCACACTACAGTGAGCTTCTGGTCCCCCAAATCTCCCCAGGCCAGACCTCATGTTCTCTACCAGCACAGGGCAGCTGAGCTGAGTTCCAGAACAGCAGCCTCTGCTCCACACCCGTACCCTGGCAATAGTACCTGGTCCCTCCATCTCCAAGGTCAAAGTCTTCTCCCAGGGAATCTCCCTAACTTGAGGCTCCCAGGCCTTGGGCAGGCTTGGCCTAGGACGTACATTGAACACCAAGTGTGTTGAGACATCTGCAAGGGGTCCTGAGGACTCTGTAAGTTTATGAAAGGGTAAAGAGGAATTTTGGGGAAAGGCCCTGCCCTCAGGTTGGCAGGGGTGTGAGATGGCACAGGGGGCACTGAGTTCTAGAGCAGAGCCCCTACTCAGATGTCTGGGATAACCTGCTCCCCAAAGAAAGCCCGGTATGCTCCAAGGGACATCCTGTACCAGAAATATCTATTCCCGCTTGTTCTCTACTAGGTGCCAGGCTAGCTTTGGGGTCCAGAGAGGAATAAGGCAGACCCCATCTGCCAAGCTCAGATTGGTCAGGAGAAAGAAAGGGACACAGCACATCTGTAAATTGGCAGTGCCATGTGGGCAGAGACCCTGGCACAGCCTTGCTCACTACTGTGTCCCAGCACCCAGTTCAGTGACCCACACCCCACACAGGCAGCTCAGCATTTGTCAATCTTGGTTGATTGCAAAAGAAGGCACGGAGTGGCACACCAGGAAGGGTGGTAGCTGTGGGAGCATGGAGCAAGGAGAAACAGCTGCCAGCCAGGACCCTGGGAATCAGAGAAGGCCTCCTGGAGAAAAAGCGGCTGTACTTGAGAGGCGCCTTAGTGGTGGTGGAAGGAGATGAATCCAACCAGAAGGCACAGCATCAGCAACAAAGGCATGGAGTCCAGGGCTGGGCGCAGTGGCTCACACCTGTGATCCTAGCACTTTGGGAGGCCGAAGTGGGTGGATCACTTGACCTCAGGAGTTTGAGACTAACCTGGGCAACATGGCAAAACCCCGTCCCTACCAAAATACAAAAAAGTTAGCCAGGCATGGTGGTGCACACCTGTGGTTCCAGCTACTTGGGAGGCTGAGGTGGGAGCATCATTTGAGCCTGGGAAGTGGAGGTTGCAATGAGCTGACATTGCATCACTGCACTCCAACCTGGGTGACAGAGTGTGACGCCATCTCAAAAAAAAAAACAAAAAAACAAAGGTGGCAGGAATGGGATGTTGCCAAGTGATTCCACAAACTTATTGAACATCTACTCTGCCTGGCACAGGACCCAGGGGATAGAGTGTTGAATAAGACAGAAGCCTATCCCAGCTAGGCTCACAGGGAGGAAGACTGGACAGACCAGCAAACTCATTCATTATTTACTGTGGTCATGGTGGGTCGAGGGAGCAGCTGGACTGTGGGAGGCCCCAAACAAGGAGTTTGGACTTTTACAGGAAGCTCTGGAGACCTAGGAGGTTTCTGCTGGAGCAGCAGGCTGAGAGGGTAGGAGTAGAACTCTGGAGCCAGAGAGGCCTAGAGTTCAAATCTCAGCTCAGCCACCCTCCATCCATGAAGCTTTGAGCAGGCCACGGCACCACGAGAGCCTTGATTTCCTTCTGTGTAAGGGGAGGGGAATCATACGAACTCTCAGTGTTATTGAGAGGCATCAGTAAGGCAGTGCATGTTCCCAGCAGGAGCCAGGAGATAGAAGTGTTGTAGGGGGTCTGGCTCATGAAGCATAGGCTGGCGAGGCAGCAGCCTGGGGTAGGGTGTCAGGACCCCTCCCTCCCAACCATGGCAGACACAGCGCCCTCTCTTGTTCACACACAGTGGCGGCCTGGTCCTCCTGAAGGTGAAGGCAAAGGTGCGACAGTGCCTGCAGGAGCGGCGGACAGTGCCCATTTTGTTTGCCTCTACCGTTCGGCGCCACCCCGACAAGACGGCCCTGATCTTCGAGGGCACAGATACCCACTGGACCTTCCGCCAGCTGGATGAGTACTCAAGCAGTGTAGCCAACTTCCTGCAGGCCCGGGGCCTGGCCTCGGGCGATGTGGCTGCCATCTTCATGGAGAACCGCAATGAGTTCGTGGGCCTATGGCTGGGCATGGCCAAGCTCGGTGTGGAGGCAGCCCTCATCAACACCAACCTGCGGCGGGATGCTCTGCTCCACTGCCTCACCACCTCGCGCGCACGGGCCCTTGTCTTTGGCAGCGAAATGGCCTCAGGTGAGCCCCAAGGGGGCGGGGGACAAGCAGGAACCCCATGGGATCTTACACAGACCACAGCTCCCTTCCAGCCCTGCCAAGGCTGTGTGGGTCAGTGGTTAAGGGCACAGAGTGGAGTCAGACAGCTTAGGCAGTGCCACGAGTAAACGAGATCCTGGGGAAGGGACTGATTTCTCTGAGCCTCAGTTTCCTCATCCGTCGTTCCTACCTCATACTGTTTTCAAAAAGGTACTTCAGACTGGGCATAGTGGCTCACAGCTGTAATCCCAGCATGTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGCCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTAAGACCCTGTCTCTACTAAGAAATTTTTTTGAGACAGGGTCTTGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTTGACCTCTCAGGCTCAAGCAGTCCCTCCACCTCAGCCTCCTGAATAGCTGGGACCACAGACATGCACCACCATGCCTGGCTAAATTTCACATTTTTTGTAGATACTCAGTTTTGCCATGTTGCCCAGGCTGGTCTCAGACTCTTGAGTTCAAGCGATCCACCTACCTCTGCCTCTCAAAGTGCTGGGATTATAGGCATGAACCACCACACCTGGCCTACTAAAAAAAGTTTTTTGTTTTTTTTTGTTTTTTTTGTTGTTGTTGTTTTGAGATAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCTCCAATCCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCCGGCCTAAAAAAAGTTTTTAAAAAATTAGCTAGGCTTGGTGACATGGACCTGTAGTCCCAGCTACTCAGAGGCTGAGGCAGGAGGATCACTTAAGACTAAGAGGTTGAGGCTGCAGTGAGTGATGATTGTGCCACTTCACTCTAGCCTGGCAGACAGAGTGAGACCCTGTCTCAAAAAAAACAAAATAAAAGGCCGGGTGTGGTGGCTCATGCCTGTAAATCCCAGCACTTTAGGAGGTCGAGGTGGGCAGCTTTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAATAAAAATGCAAAAAAAAACCTAGCCGAGCATGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGACTGAGGTAGGAGAATCGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCGAGATCACGTCACTGTGTTCCAGCCTGGATGACAGAGAGAGGTTACGTGTCAAAAAAAAAGATACTTACCTGAAGCACTAGCAACATGGCTGATGCTAGGTGGCCCCTCAGTACAATGGTAATCATCCTTGTGACTAATTAGGCCGTATCTAGCTCATCTGTAAAATGGGAACAAAATTAATTCCCCACTTTCCTCACAGAGCCTGCATTTTATTTGCTGCCACATTGGGCACCTGCAAAGTACTGAGGTTGCTGCTTTCCAAGAGCAGCTCTAATCTCTATAAAGACCGAGTGAGGTAGGGATCTTGGTTTTATGGATGATGAGCCTGGAGTTCAGAGGGGTTTGTGAGGAGCTCACCCA
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GTTGTTCCTCTACTTGGGATCTGGCGGCTGGCGCTTCATCCGGGTCTTCATCAAGACCATCAGGCGCGATATCTTGTGAGTACCTGGCCCAGCCTTTCCTGGGGTCTGCCACACTACAGTGAGCTTCTGGTCCCCCAAATCTCCCCAGGCCAGACCTCATGTTCTCTACCAGCACAGGGCAGCTGAGCTGAGTTCCAGAACAGCAGCCTCTGCTCCACACCCGTACCCTGGCAATAGTACCTGGTCCCTCCATCTCCAAGGTCAAAGTCTTCTCCCAGGGAATCTCCCTAACTTGAGGCTCCCAGGCCTTGGGCAGGCTTGGCCTAGGACGTACATTGAACACCAAGTGTGTTGAGACATCTGCAAGGGGTCCTGAGGACTCTGTAAGTTTATGAAAGGGTAAAGAGGAATTTTGGGGAAAGGCCCTGCCCTCAGGTTGGCAGGGGTGTGAGATGGCACAGGGGGCACTGAGTTCTAGAGCAGAGCCCCTACTCAGATGTCTGGGATAACCTGCTCCCCAAAGAAAGCCCGGTATGCTCCAAGGGACATCCTGTACCAGAAATATCTATTCCCGCTTGTTCTCTACTAGGTGCCAGGCTAGCTTTGGGGTCCAGAGAGGAATAAGGCAGACCCCATCTGCCAAGCTCAGATTGGTCAGGAGAAAGAAAGGGACACAGCACATCTGTAAATTGGCAGTGCCATGTGGGCAGAGACCCTGGCACAGCCTTGCTCACTACTGTGTCCCAGCACCCAGTTCAGTGACCCACACCCCACACAGGCAGCTCAGCATTTGTCAATCTTGGTTGATTGCAAAAGAAGGCACGGAGTGGCACACCAGGAAGGGTGGTAGCTGTGGGAGCATGGAGCAAGGAGAAACAGCTGCCAGCCAGGACCCTGGGAATCAGAGAAGGCCTCCTGGAGAAAAAGCGGCTGTACTTGAGAGGCGCCTTAGTGGTGGTGGAAGGAGATGAATCCAACCAGAAGGCACAGCATCAGCAACAAAGGCATGGAGTCCAGGGCTGGGCGCAGTGGCTCACACCTGTGATCCTAGCACTTTGGGAGGCCGAAGTGGGTGGATCACTTGACCTCAGGAGTTTGAGACTAACCTGGGCAACATGGCAAAACCCCGTCCCTACCAAAATACAAAAAAGTTAGCCAGGCATGGTGGTGCACACCTGTGGTTCCAGCTACTTGGGAGGCTGAGGTGGGAGCATCATTTGAGCCTGGGAAGTGGAGGTTGCAATGAGCTGACATTGCATCACTGCACTCCAACCTGGGTGACAGAGTGTGACGCCATCTCAAAAAAAAAAACAAAAAAACAAAGGTGGCAGGAATGGGATGTTGCCAAGTGATTCCACAAACTTATTGAACATCTACTCTGCCTGGCACAGGACCCAGGGGATAGAGTGTTGAATAAGACAGAAGCCTATCCCAGCTAGGCTCACAGGGAGGAAGACTGGACAGACCAGCAAACTCATTCATTATTTACTGTGGTCATGGTGGGTCGAGGGAGCAGCTGGACTGTGGGAGGCCCCAAACAAGGAGTTTGGACTTTTACAGGAAGCTCTGGAGACCTAGGAGGTTTCTGCTGGAGCAGCAGGCTGAGAGGGTAGGAGTAGAACTCTGGAGCCAGAGAGGCCTAGAGTTCAAATCTCAGCTCAGCCACCCTCCATCCATGAAGCTTTGAGCAGGCCACGGCACCACGAGAGCCTTGATTTCCTTCTGTGTAAGGGGAGGGGAATCATACGAACTCTCAGTGTTATTGAGAGGCATCAGTAAGGCAGTGCATGTTCCCAGCAGGAGCCAGGAGATAGAAGTGTTGTAGGGGGTCTGGCTCATGAAGCATAGGCTGGCGAGGCAGCAGCCTGGGGTAGGGTGTCAGGACCCCTCCCTCCCAACCATGGCAGACACAGCGCCCTCTCTTGTTCACACACAGTGGCGGCCTGGTCCTCCTGAAGGTGAAGGCAAAGGTGCGACAGTGCCTGCAGGAGCGGCGGACAGTGCCCATTTTGTTTGCCTCTACCGTTCGGCGCCACCCCGACAAGACGACCCTGATCTTCGAGGGCACAGATACCCACTGGACCTTCCGCCAGCTGGATGAGTACTCAAGCAGTGTAGCCAACTTCCTGCAGGCCCGGGGCCTGGCCTCGGGCGATGTGGCTGCCATCTTCATGGAGAACCGCAATGAGTTCGTGGGCCTATGGCTGGGCATGGCCAAGCTCGGTGTGGAGGCAGCCCTCATCAACACCAACCTGCGGCGGGATGCTCTGCTCCACTGCCTCACCACCTCGCGCGCACGGGCCCTTGTCTTTGGCAGCGAAATGGCCTCAGGTGAGCCCCAAGGGGGCGGGGGACAAGCAGGAACCCCATGGGATCTTACACAGACCACAGCTCCCTTCCAGCCCTGCCAAGGCTGTGTGGGTCAGTGGTTAAGGGCACAGAGTGGAGTCAGACAGCTTAGGCAGTGCCACGAGTAAACGAGATCCTGGGGAAGGGACTGATTTCTCTGAGCCTCAGTTTCCTCATCCGTCGTTCCTACCTCATACTGTTTTCAAAAAGGTACTTCAGACTGGGCATAGTGGCTCACAGCTGTAATCCCAGCATGTTGGGAGGCCAAGGCAGGAGGATCCCTTGAGCCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTAAGACCCTGTCTCTACTAAGAAATTTTTTTGAGACAGGGTCTTGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTTGACCTCTCAGGCTCAAGCAGTCCCTCCACCTCAGCCTCCTGAATAGCTGGGACCACAGACATGCACCACCATGCCTGGCTAAATTTCACATTTTTTGTAGATACTCAGTTTTGCCATGTTGCCCAGGCTGGTCTCAGACTCTTGAGTTCAAGCGATCCACCTACCTCTGCCTCTCAAAGTGCTGGGATTATAGGCATGAACCACCACACCTGGCCTACTAAAAAAAGTTTTTTGTTTTTTTTTGTTTTTTTTGTTGTTGTTGTTTTGAGATAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCTCCAATCCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCCGGCCTAAAAAAAGTTTTTAAAAAATTAGCTAGGCTTGGTGACATGGACCTGTAGTCCCAGCTACTCAGAGGCTGAGGCAGGAGGATCACTTAAGACTAAGAGGTTGAGGCTGCAGTGAGTGATGATTGTGCCACTTCACTCTAGCCTGGCAGACAGAGTGAGACCCTGTCTCAAAAAAAACAAAATAAAAGGCCGGGTGTGGTGGCTCATGCCTGTAAATCCCAGCACTTTAGGAGGTCGAGGTGGGCAGCTTTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAATAAAAATGCAAAAAAAAACCTAGCCGAGCATGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGACTGAGGTAGGAGAATCGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCGAGATCACGTCACTGTGTTCCAGCCTGGATGACAGAGAGAGGTTACGTGTCAAAAAAAAAGATACTTACCTGAAGCACTAGCAACATGGCTGATGCTAGGTGGCCCCTCAGTACAATGGTAATCATCCTTGTGACTAATTAGGCCGTATCTAGCTCATCTGTAAAATGGGAACAAAATTAATTCCCCACTTTCCTCACAGAGCCTGCATTTTATTTGCTGCCACATTGGGCACCTGCAAAGTACTGAGGTTGCTGCTTTCCAAGAGCAGCTCTAATCTCTATAAAGACCGAGTGAGGTAGGGATCTTGGTTTTATGGATGATGAGCCTGGAGTTCAGAGGGGTTTGTGAGGAGCTCACCCA
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Task1_train_13281
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A genetic alteration is present in SLC27A4 (solute carrier family 27 member 4) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Ichthyosis prematurity syndrome
|
GAGGGGCTGTCAATGGTCCCTCCTTCCCAGGGCTGTGAGACCAGGGAATGCAGGTAAAGCGGACCTACTCTGTGGTTAGCCCATGGCTAATAGAACCATTGCCGGTGCCCCTGTCAACACTGAAGGCCCAGTTGCTTCACTGCCTCTCCTCCTGCCCAGCCAGTATCCTCAGCAACATGGCCAGCCCTGCTGGGAGCAGAGGTCCCTGGGAACATGGGGTTTTCTGGCCTGCCTGCTGACTGCCCTGTCTCCCCACAGCCATCTGTGAGGTCCATGCCAGCCTGGACCCCTCGCTCAGCCTCTTCTGCTCTGGCTCCTGGGAGCCCGGTGCGGTGCCTCCAAGCACAGAACACCTGGACCCTCTGCTGAAAGATGCTCCCAAGCACCTTCCCAGTTGCCCTGACAAGGGCTTCACAGGTGGGCTCCATCCCCTCCCCATAGAGGGGCTCTCACACAGGCCCTGGACAGAGCACTGGCCTCAGTGCCAGAAGGAGGCTTTTCTGGAAACTTGCCATGTGCCTGGAACATGTCACGTCACCTCCCTTTTTCCATCTGGAAAATGGTGACAGTAAACCTGGGCCACTCCAGGGTTACTGTGAAGGTGACATGAGCTGATGTGTATCAGTGCCAGATACAGGGCTGAGAACACAGGAGCTCACAAAGTCCAGTGTGATTTGTTGAACAAGCCTTCATTGATGCCTAATGGGCAGAATCCTGTGGACTCCGGGAACCTGCCTGGTCTGGGCTTTGGTTGGGGTTGGGTGGGAGGGTGGGTGAGGAGCAAGACCCTTTGTATATTCATCAAGTGCCTCTTCAGTGCAGGACACTTCAGGATCTCCAGCTGTGATCCTCTCCCAGCACTGTGCTGCCTCCCTGACCCCACCTCCAGGCAGCCTTCCTGAGCCTCTCACCCCTCTTCTTTTATACTGTAGCCTACCTGGTTCTTCTGCTCTTCTCATTCTCTTTCCTGTGAAGCCACATTGCCTGGTGGCTCAGAGCTTGGGCTGTCGAGTCAGATCCGAGTTTATATCCTGGTTCTACTGCTTCCTTTGTGTGAACCCTGACACCTGCCCTGCCCTTGGAGCCTCAGTTCCCACAGCCATAAAACTGGGGACAGTAGCAGAACCTACTCTATGGGGTATCTTTGAGGGTTGAAAAAAATACAGTGGGGCCAGTCCTGAAGCTAGGGTGTGGCAGGAGGGGCTCAGTAACTGGTCATTGTCATCAGCACTGTTTAACTTCTCTCTTGTATGTGAATCTGGTCTCTTGGGTGCATTTGTCAGCTGCTTGAGGGCAGGGACTCTGGCTGGTTGCTCTGGTGCCCTCATAGTGCCTAGGGCTGGCAAACAGCAGGCAGGCAGAGAGCATGAGGTGTCTCGGCAGGCATTCTAAACACGTGGAGTCTGCCTGTGGAGTTCCTGACCTCCAGGGAACCTCAAGTCTGGTAGGGCCGAGCCTCACATAGAAACTCTAACGTGGCAATCCCTGTCGAGGGCTGCAGAGTGGGACAGATCAATGCTCAGCAGTGCGGAAGCTACCTCAACACCCCACTTCCTGCAGCTAATGCCTCCCTGTGCTCTATGACTTGGGGCAGGTGTCACCTTTATCGTGAAGCCCACCTGGCACCACCTCCCCTCCTGCAAGCTTGGGCCAAATGTGGCTACTGGGTTTCAACAGGTCCTGTGCCCTCCCTCGGCACTTGTTGCTTAGTATTGGAATTGCCTGTGTCCTCATCTGACTGTTCCACTGAGCTGTGACTGCCAAGAGGGCCAGGCCCGTGCCCATCTTACTCACTGATGTCTCTCTCCACCAGGGCCTAGCACAGAGCAAGGGCCCAGGAAATATTTGTTGGAATGGATGCCGGTGTTAGAGCTGAATGGTATCTGAGGTTATCAGAACAGGCTTCCTAGCAAGGGTGTGATGGGAACAGGTGTTGAAGGGTGCACACCTGCAGGTGTCCATTTGTGTGACCCTTTGCCCAGCCCTGAGCTGCCCCCGACAGCCACTCGCGTCTGTTTTCTTTAGATAAACTGTTCTACATCTACACATCCGGCACCACAGGGCTGCCCAAGGCCGCCATCGTGGTGCACAGCAGGTAAGGGGCAGGTGCCCAGGGTGGGGTAGGCACAGGCAGGGCTGGGGAGCCTCCTTCTGCCTTTCTAGGGCCCGCTCAGCCCTTGGCCCTGTGCCTTCCCAGGTATTACCGCATGGCTGCCCTGGTGTACTATGGATTCCGCATGCGGCCCAACGACATCGTCTATGACTGCCTCCCCCTCTACCACTCAGCAGGTAACTCTAGGGCTGTCACACAGCCTCCAGCACCTGCCAGGTCTCTAGGAACCCCACCCCCATCAGGCAGTGTGCTGCAGTAGAAACACACAGCTTTGGGCCAGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAGTACAAAAAATTAGCCAGGTGTGGTGGCTCATGCCTGTAGGCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGTACAAGACTCTGTCTCGGAAAAAAAAAAAAGAAAGAAATTATCTGGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTATCTGTGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAAAAAAAATTAGCTGGGTCTGGTGGCGTGTGCCTGTAATCCCAGCTACCTGTGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAATAAAAATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTGAGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGTTAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAGTAGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATGGTTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCTAGATCGTGCCATTGCACATCAGCCTGGGTGACAGGGCAAGACTCTGTCTCAAAATAAATAAATAAATTAATTTAATTTAATTTAAAAATAAAAATAAACAGGATTAGCCAGGCGTGGTGCACATGCCTATGGTCTCAGCTACTGGGAAGGCTGAGACAGGAGAATCACTTGAGCCTGGGAGTTTAAGGCCAGCCTGGGCAACATGGTGAGACCTGTCTCTAAAAAAAATTTTGTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGATGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGATGATGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATGGCATCACTGTACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTTGTTTTAAATTGAAAAAAGGATGAGCACACCAGCCTCACAGTGTGTGTGGCAGTGTCCCACGGGGCATCTGGGCCTGTCTCATTTCAGTTTGTTTCCACAGATATGCATGGCATTGCTGCTTGTTTGTAGGGGCTTAAGGGAAGACAGCTTGAATAAATATAGCTCCTGC
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GAGGGGCTGTCAATGGTCCCTCCTTCCCAGGGCTGTGAGACCAGGGAATGCAGGTAAAGCGGACCTACTCTGTGGTTAGCCCATGGCTAATAGAACCATTGCCGGTGCCCCTGTCAACACTGAAGGCCCAGTTGCTTCACTGCCTCTCCTCCTGCCCAGCCAGTATCCTCAGCAACATGGCCAGCCCTGCTGGGAGCAGAGGTCCCTGGGAACATGGGGTTTTCTGGCCTGCCTGCTGACTGCCCTGTCTCCCCACAGCCATCTGTGAGGTCCATGCCAGCCTGGACCCCTCGCTCAGCCTCTTCTGCTCTGGCTCCTGGGAGCCCGGTGCGGTGCCTCCAAGCACAGAACACCTGGACCCTCTGCTGAAAGATGCTCCCAAGCACCTTCCCAGTTGCCCTGACAAGGGCTTCACAGGTGGGCTCCATCCCCTCCCCATAGAGGGGCTCTCACACAGGCCCTGGACAGAGCACTGGCCTCAGTGCCAGAAGGAGGCTTTTCTGGAAACTTGCCATGTGCCTGGAACATGTCACGTCACCTCCCTTTTTCCATCTGGAAAATGGTGACAGTAAACCTGGGCCACTCCAGGGTTACTGTGAAGGTGACATGAGCTGATGTGTATCAGTGCCAGATACAGGGCTGAGAACACAGGAGCTCACAAAGTCCAGTGTGATTTGTTGAACAAGCCTTCATTGATGCCTAATGGGCAGAATCCTGTGGACTCCGGGAACCTGCCTGGTCTGGGCTTTGGTTGGGGTTGGGTGGGAGGGTGGGTGAGGAGCAAGACCCTTTGTATATTCATCAAGTGCCTCTTCAGTGCAGGACACTTCAGGATCTCCAGCTGTGATCCTCTCCCAGCACTGTGCTGCCTCCCTGACCCCACCTCCAGGCAGCCTTCCTGAGCCTCTCACCCCTCTTCTTTTATACTGTAGCCTACCTGGTTCTTCTGCTCTTCTCATTCTCTTTCCTGTGAAGCCACATTGCCTGGTGGCTCAGAGCTTGGGCTGTCGAGTCAGATCCGAGTTTATATCCTGGTTCTACTGCTTCCTTTGTGTGAACCCTGACACCTGCCCTGCCCTTGGAGCCTCAGTTCCCACAGCCATAAAACTGGGGACAGTAGCAGAACCTACTCTATGGGGTATCTTTGAGGGTTGAAAAAAATACAGTGGGGCCAGTCCTGAAGCTAGGGTGTGGCAGGAGGGGCTCAGTAACTGGTCATTGTCATCAGCACTGTTTAACTTCTCTCTTGTATGTGAATCTGGTCTCTTGGGTGCATTTGTCAGCTGCTTGAGGGCAGGGACTCTGGCTGGTTGCTCTGGTGCCCTCATAGTGCCTAGGGCTGGCAAACAGCAGGCAGGCAGAGAGCATGAGGTGTCTCGGCAGGCATTCTAAACACGTGGAGTCTGCCTGTGGAGTTCCTGACCTCCAGGGAACCTCAAGTCTGGTAGGGCCGAGCCTCACATAGAAACTCTAACGTGGCAATCCCTGTCGAGGGCTGCAGAGTGGGACAGATCAATGCTCAGCAGTGCGGAAGCTACCTCAACACCCCACTTCCTGCAGCTAATGCCTCCCTGTGCTCTATGACTTGGGGCAGGTGTCACCTTTATCGTGAAGCCCACCTGGCACCACCTCCCCTCCTGCAAGCTTGGGCCAAATGTGGCTACTGGGTTTCAACAGGTCCTGTGCCCTCCCTCGGCACTTGTTGCTTAGTATTGGAATTGCCTGTGTCCTCATCTGACTGTTCCACTGAGCTGTGACTGCCAAGAGGGCCAGGCCCGTGCCCATCTTACTCACTGATGTCTCTCTCCACCAGGGCCTAGCACAGAGCAAGGGCCCAGGAAATATTTGTTGGAATGGATGCCGGTGTTAGAGCTGAATGGTATCTGAGGTTATCAGAACAGGCTTCCTAGCAAGGGTGTGATGGGAACAGGTGTTGAAGGGTGCACACCTGCAGGTGTCCATTTGTGTGACCCTTTGCCCAGCCCTGAGCTGCCCCCGACAGCCACTCGCGTCTGTTTTCTTTAGATAAACTGTTCTACATCTACACACCCGGCACCACAGGGCTGCCCAAGGCCGCCATCGTGGTGCACAGCAGGTAAGGGGCAGGTGCCCAGGGTGGGGTAGGCACAGGCAGGGCTGGGGAGCCTCCTTCTGCCTTTCTAGGGCCCGCTCAGCCCTTGGCCCTGTGCCTTCCCAGGTATTACCGCATGGCTGCCCTGGTGTACTATGGATTCCGCATGCGGCCCAACGACATCGTCTATGACTGCCTCCCCCTCTACCACTCAGCAGGTAACTCTAGGGCTGTCACACAGCCTCCAGCACCTGCCAGGTCTCTAGGAACCCCACCCCCATCAGGCAGTGTGCTGCAGTAGAAACACACAGCTTTGGGCCAGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAGTACAAAAAATTAGCCAGGTGTGGTGGCTCATGCCTGTAGGCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGTACAAGACTCTGTCTCGGAAAAAAAAAAAAGAAAGAAATTATCTGGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTATCTGTGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAAAAAAAATTAGCTGGGTCTGGTGGCGTGTGCCTGTAATCCCAGCTACCTGTGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAATAAAAATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTGAGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGTTAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAGTAGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATGGTTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCTAGATCGTGCCATTGCACATCAGCCTGGGTGACAGGGCAAGACTCTGTCTCAAAATAAATAAATAAATTAATTTAATTTAATTTAAAAATAAAAATAAACAGGATTAGCCAGGCGTGGTGCACATGCCTATGGTCTCAGCTACTGGGAAGGCTGAGACAGGAGAATCACTTGAGCCTGGGAGTTTAAGGCCAGCCTGGGCAACATGGTGAGACCTGTCTCTAAAAAAAATTTTGTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGATGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGATGATGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATGGCATCACTGTACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTTGTTTTAAATTGAAAAAAGGATGAGCACACCAGCCTCACAGTGTGTGTGGCAGTGTCCCACGGGGCATCTGGGCCTGTCTCATTTCAGTTTGTTTCCACAGATATGCATGGCATTGCTGCTTGTTTGTAGGGGCTTAAGGGAAGACAGCTTGAATAAATATAGCTCCTGC
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Task1_train_13282
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A variant found in Chromosome 9 affects SLC27A4 (solute carrier family 27 member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Ichthyosis prematurity syndrome
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GCCAGGTCTCTAGGAACCCCACCCCCATCAGGCAGTGTGCTGCAGTAGAAACACACAGCTTTGGGCCAGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAGTACAAAAAATTAGCCAGGTGTGGTGGCTCATGCCTGTAGGCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGTACAAGACTCTGTCTCGGAAAAAAAAAAAAGAAAGAAATTATCTGGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTATCTGTGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAAAAAAAATTAGCTGGGTCTGGTGGCGTGTGCCTGTAATCCCAGCTACCTGTGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAATAAAAATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTGAGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGTTAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAGTAGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATGGTTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCTAGATCGTGCCATTGCACATCAGCCTGGGTGACAGGGCAAGACTCTGTCTCAAAATAAATAAATAAATTAATTTAATTTAATTTAAAAATAAAAATAAACAGGATTAGCCAGGCGTGGTGCACATGCCTATGGTCTCAGCTACTGGGAAGGCTGAGACAGGAGAATCACTTGAGCCTGGGAGTTTAAGGCCAGCCTGGGCAACATGGTGAGACCTGTCTCTAAAAAAAATTTTGTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGATGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGATGATGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATGGCATCACTGTACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTTGTTTTAAATTGAAAAAAGGATGAGCACACCAGCCTCACAGTGTGTGTGGCAGTGTCCCACGGGGCATCTGGGCCTGTCTCATTTCAGTTTGTTTCCACAGATATGCATGGCATTGCTGCTTGTTTGTAGGGGCTTAAGGGAAGACAGCTTGAATAAATATAGCTCCTGCCCTCCAGGTGCTTAGAGTCGGGTGTATATGTGAGTGTAGGAGAGAGGCAGGGAGCAAGAGGGCAGCACCAGGGAAGAGCCTGGTGATGGAAGCCGGGGAGGCTTCTTGGAGGAGGTCACCCAAGGCAGGCAGATGTGAGGTGCAGAAGCCTGCAGGGCAGCACAAGCCTGCCTGGCTGGATGGCAGTATCACTGATTTGGGGCCGGGGAGGGTCTTCATCTCGCTGACCCTCAGGGGCCATCCCTCTGCCTCCAGGAAACATCGTGGGAATCGGCCAGTGCCTGCTGCATGGCATGACGGTGGTGATTCGGAAGAAGTTCTCAGCCTCCCGGTTCTGGGACGATTGTATCAAGTACAACTGCACGGTGAGCGAGAGCGGGAAGGGTGAGCTGTCCCTTTCCCCTAGTTACCCTCTTCCCAACTACACTCCGGGGCATCTGTCTTATAGCTGAGGTGGCCAGTCATTCCAAAGGGCTCATTTGTGGCAAAGTTCCCATTGTTCAGATGGGAAGGCTGAGACCCGGAGAGGGAAAGGATGGCATGGCCAGCCCCTGGGGAGAGTAGGGGCTTGAGGGATCAGGAGAATCCTAGTGTAGTGAGGGCAGCCTCTGGAGCCTCGAATCACACCAAGTTCACCCCCAGATTGTGCAGTACATTGGTGAACTGTGCCGCTACCTCCTGAACCAGCCACCGCGGGAGGCAGAAAACCAGCACCAGGTTCGCATGGCACTAGGCAATGGCCTCCGGCAGTCCATCTGGACCAACTTTTCCAGCCGCTTCCACATACCCCAGGTGGCTGAGTTCTACGGGGCCACAGAGTGCAACTGTAGCCTGGGCAACTTCGACAGCCAGGTGCGGCCAGGTTGGGGATGGGCGAGGCTGCTGCAGGGATGGCCCACAGAAGGCACTGGATGCAGAGGGGAGGGCAGAGTTCGAGCGTGAGAGTGTGGGTGCTGGAGTCCCACTTCCCCCTCATTGTCCAGTTTTGGGCCCATGGTGAGAGAGCCCAGGCCCAAGTCTTGGCCTTCGCAGGTGGGGGCCTGTGGTTTCAATAGCCGCATCCTGTCCTTCGTGTACCCCATCCGGTTGGTACGTGTCAACGAGGACACCATGGAGCTGATCCGGGGGCCCGACGGCGTCTGCATTCCCTGCCAGCCAGGTCTGCCACTTCGGGGTCAGAGAGGGAGGGGTTGGCCTGGGAAGGAAGGAGGCCAGGCGCGTGTGGATGGGGAGCCTTGTTCTGACCAGTGGCCATCAGTTATCTCTGCTCTTAGGGTTACAAGTTACTCATTTATTTGTGTATCCATCCATTCATTCATTCATTCGCCATTCTATCTGTACATCAGTCCATTCATTCATTCTTTTTTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCCTGAGTAGCTGGAATTACAGGCAAACCCCACCATGCCCGGCTAGTTTTTCTATTTTCAATAGAGATGGGGTTTCACCATGTTGTCCAGGTTGGTCTCGAACTCCTGACTTCAAGTGATCCATCCACCTCGGCCTCCCAAAATGTTGGTATTACAGATGTGAGCCACCATGCCCGGCCCTCATTCATTCATTTTCATATTGACTCCAAATGACCCTGAGTCCAGGCTGCTTGAGATTTATTCTGGCTCAGCTCCTTAGCTCTGTGTCATGGGCGAGTATTCAGCCTCACTGTGCCTAAGTCCCCTTATCTACAAACTGTGCCCATGGCAGCACCCACACATGGGGCTGGCCTGAGGATTATGTTTCATAAAGAACATAAAACTCTGAGTGGGTCCCGGCATGGAGCAGAGGCTTGGGGCGCTGGCTTTGTTAGGCTGTCCCCAAGGAGCCTGACTTATGTTCATCCTCCCATCAGTTTCGAGAACAAACATCACTGGCTCAGTGTGTCCGACCTGCCAAGATGAGCTCCTGGGCTGGGGGAGGGTGGGGCATTTCTGTGGCAAGCAGCATGACTCAAATCAGATCAAGACACAGAGTACAGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTG
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GCCAGGTCTCTAGGAACCCCACCCCCATCAGGCAGTGTGCTGCAGTAGAAACACACAGCTTTGGGCCAGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAGTACAAAAAATTAGCCAGGTGTGGTGGCTCATGCCTGTAGGCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGTACAAGACTCTGTCTCGGAAAAAAAAAAAAGAAAGAAATTATCTGGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTATCTGTGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAAAAAAAATTAGCTGGGTCTGGTGGCGTGTGCCTGTAATCCCAGCTACCTGTGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAATAAAAATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTGAGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGTTAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAGTAGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATGGTTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCTAGATCGTGCCATTGCACATCAGCCTGGGTGACAGGGCAAGACTCTGTCTCAAAATAAATAAATAAATTAATTTAATTTAATTTAAAAATAAAAATAAACAGGATTAGCCAGGCGTGGTGCACATGCCTATGGTCTCAGCTACTGGGAAGGCTGAGACAGGAGAATCACTTGAGCCTGGGAGTTTAAGGCCAGCCTGGGCAACATGGTGAGACCTGTCTCTAAAAAAAATTTTGTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGATGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGATGATGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATGGCATCACTGTACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTTGTTTTAAATTGAAAAAAGGATGAGCACACCAGCCTCACAGTGTGTGTGGCAGTGTCCCACGGGGCATCTGGGCCTGTCTCATTTCAGTTTGTTTCCACAGATATGCATGGCATTGCTGCTTGTTTGTAGGGGCTTAAGGGAAGACAGCTTGAATAAATATAGCTCCTGCCCTCCAGGTGCTTAGAGTCGGGTGTATATGTGAGTGTAGGAGAGAGGCAGGGAGCAAGAGGGCAGCACCAGGGAAGAGCCTGGTGATGGAAGCCGGGGAGGCTTCTTGGAGGAGGTCACCCAAGGCAGGCAGATGTGAGGTGCAGAAGCCTGCAGGGCAGCACAAGCCTGCCTGGCTGGATGGCAGTATCACTGATTTGGGGCCGGGGAGGGTCTTCATCTCGCTGACCCTCAGGGGCCATCCCTCTGCCTCCAGGAAACATCGTGGGAATCGGCCGGTGCCTGCTGCATGGCATGACGGTGGTGATTCGGAAGAAGTTCTCAGCCTCCCGGTTCTGGGACGATTGTATCAAGTACAACTGCACGGTGAGCGAGAGCGGGAAGGGTGAGCTGTCCCTTTCCCCTAGTTACCCTCTTCCCAACTACACTCCGGGGCATCTGTCTTATAGCTGAGGTGGCCAGTCATTCCAAAGGGCTCATTTGTGGCAAAGTTCCCATTGTTCAGATGGGAAGGCTGAGACCCGGAGAGGGAAAGGATGGCATGGCCAGCCCCTGGGGAGAGTAGGGGCTTGAGGGATCAGGAGAATCCTAGTGTAGTGAGGGCAGCCTCTGGAGCCTCGAATCACACCAAGTTCACCCCCAGATTGTGCAGTACATTGGTGAACTGTGCCGCTACCTCCTGAACCAGCCACCGCGGGAGGCAGAAAACCAGCACCAGGTTCGCATGGCACTAGGCAATGGCCTCCGGCAGTCCATCTGGACCAACTTTTCCAGCCGCTTCCACATACCCCAGGTGGCTGAGTTCTACGGGGCCACAGAGTGCAACTGTAGCCTGGGCAACTTCGACAGCCAGGTGCGGCCAGGTTGGGGATGGGCGAGGCTGCTGCAGGGATGGCCCACAGAAGGCACTGGATGCAGAGGGGAGGGCAGAGTTCGAGCGTGAGAGTGTGGGTGCTGGAGTCCCACTTCCCCCTCATTGTCCAGTTTTGGGCCCATGGTGAGAGAGCCCAGGCCCAAGTCTTGGCCTTCGCAGGTGGGGGCCTGTGGTTTCAATAGCCGCATCCTGTCCTTCGTGTACCCCATCCGGTTGGTACGTGTCAACGAGGACACCATGGAGCTGATCCGGGGGCCCGACGGCGTCTGCATTCCCTGCCAGCCAGGTCTGCCACTTCGGGGTCAGAGAGGGAGGGGTTGGCCTGGGAAGGAAGGAGGCCAGGCGCGTGTGGATGGGGAGCCTTGTTCTGACCAGTGGCCATCAGTTATCTCTGCTCTTAGGGTTACAAGTTACTCATTTATTTGTGTATCCATCCATTCATTCATTCATTCGCCATTCTATCTGTACATCAGTCCATTCATTCATTCTTTTTTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCCTGAGTAGCTGGAATTACAGGCAAACCCCACCATGCCCGGCTAGTTTTTCTATTTTCAATAGAGATGGGGTTTCACCATGTTGTCCAGGTTGGTCTCGAACTCCTGACTTCAAGTGATCCATCCACCTCGGCCTCCCAAAATGTTGGTATTACAGATGTGAGCCACCATGCCCGGCCCTCATTCATTCATTTTCATATTGACTCCAAATGACCCTGAGTCCAGGCTGCTTGAGATTTATTCTGGCTCAGCTCCTTAGCTCTGTGTCATGGGCGAGTATTCAGCCTCACTGTGCCTAAGTCCCCTTATCTACAAACTGTGCCCATGGCAGCACCCACACATGGGGCTGGCCTGAGGATTATGTTTCATAAAGAACATAAAACTCTGAGTGGGTCCCGGCATGGAGCAGAGGCTTGGGGCGCTGGCTTTGTTAGGCTGTCCCCAAGGAGCCTGACTTATGTTCATCCTCCCATCAGTTTCGAGAACAAACATCACTGGCTCAGTGTGTCCGACCTGCCAAGATGAGCTCCTGGGCTGGGGGAGGGTGGGGCATTTCTGTGGCAAGCAGCATGACTCAAATCAGATCAAGACACAGAGTACAGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTG
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Task1_train_13283
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A variant on Chromosome 9 in gene SLC27A4 (solute carrier family 27 member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Lamellar ichthyosis
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GCCAGGTCTCTAGGAACCCCACCCCCATCAGGCAGTGTGCTGCAGTAGAAACACACAGCTTTGGGCCAGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAGTACAAAAAATTAGCCAGGTGTGGTGGCTCATGCCTGTAGGCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGTACAAGACTCTGTCTCGGAAAAAAAAAAAAGAAAGAAATTATCTGGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTATCTGTGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAAAAAAAATTAGCTGGGTCTGGTGGCGTGTGCCTGTAATCCCAGCTACCTGTGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAATAAAAATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTGAGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGTTAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAGTAGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATGGTTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCTAGATCGTGCCATTGCACATCAGCCTGGGTGACAGGGCAAGACTCTGTCTCAAAATAAATAAATAAATTAATTTAATTTAATTTAAAAATAAAAATAAACAGGATTAGCCAGGCGTGGTGCACATGCCTATGGTCTCAGCTACTGGGAAGGCTGAGACAGGAGAATCACTTGAGCCTGGGAGTTTAAGGCCAGCCTGGGCAACATGGTGAGACCTGTCTCTAAAAAAAATTTTGTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGATGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGATGATGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATGGCATCACTGTACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTTGTTTTAAATTGAAAAAAGGATGAGCACACCAGCCTCACAGTGTGTGTGGCAGTGTCCCACGGGGCATCTGGGCCTGTCTCATTTCAGTTTGTTTCCACAGATATGCATGGCATTGCTGCTTGTTTGTAGGGGCTTAAGGGAAGACAGCTTGAATAAATATAGCTCCTGCCCTCCAGGTGCTTAGAGTCGGGTGTATATGTGAGTGTAGGAGAGAGGCAGGGAGCAAGAGGGCAGCACCAGGGAAGAGCCTGGTGATGGAAGCCGGGGAGGCTTCTTGGAGGAGGTCACCCAAGGCAGGCAGATGTGAGGTGCAGAAGCCTGCAGGGCAGCACAAGCCTGCCTGGCTGGATGGCAGTATCACTGATTTGGGGCCGGGGAGGGTCTTCATCTCGCTGACCCTCAGGGGCCATCCCTCTGCCTCCAGGAAACATCGTGGGAATCGGCCAGTGCCTGCTGCATGGCATGACGGTGGTGATTCGGAAGAAGTTCTCAGCCTCCCGGTTCTGGGACGATTGTATCAAGTACAACTGCACGGTGAGCGAGAGCGGGAAGGGTGAGCTGTCCCTTTCCCCTAGTTACCCTCTTCCCAACTACACTCCGGGGCATCTGTCTTATAGCTGAGGTGGCCAGTCATTCCAAAGGGCTCATTTGTGGCAAAGTTCCCATTGTTCAGATGGGAAGGCTGAGACCCGGAGAGGGAAAGGATGGCATGGCCAGCCCCTGGGGAGAGTAGGGGCTTGAGGGATCAGGAGAATCCTAGTGTAGTGAGGGCAGCCTCTGGAGCCTCGAATCACACCAAGTTCACCCCCAGATTGTGCAGTACATTGGTGAACTGTGCCGCTACCTCCTGAACCAGCCACCGCGGGAGGCAGAAAACCAGCACCAGGTTCGCATGGCACTAGGCAATGGCCTCCGGCAGTCCATCTGGACCAACTTTTCCAGCCGCTTCCACATACCCCAGGTGGCTGAGTTCTACGGGGCCACAGAGTGCAACTGTAGCCTGGGCAACTTCGACAGCCAGGTGCGGCCAGGTTGGGGATGGGCGAGGCTGCTGCAGGGATGGCCCACAGAAGGCACTGGATGCAGAGGGGAGGGCAGAGTTCGAGCGTGAGAGTGTGGGTGCTGGAGTCCCACTTCCCCCTCATTGTCCAGTTTTGGGCCCATGGTGAGAGAGCCCAGGCCCAAGTCTTGGCCTTCGCAGGTGGGGGCCTGTGGTTTCAATAGCCGCATCCTGTCCTTCGTGTACCCCATCCGGTTGGTACGTGTCAACGAGGACACCATGGAGCTGATCCGGGGGCCCGACGGCGTCTGCATTCCCTGCCAGCCAGGTCTGCCACTTCGGGGTCAGAGAGGGAGGGGTTGGCCTGGGAAGGAAGGAGGCCAGGCGCGTGTGGATGGGGAGCCTTGTTCTGACCAGTGGCCATCAGTTATCTCTGCTCTTAGGGTTACAAGTTACTCATTTATTTGTGTATCCATCCATTCATTCATTCATTCGCCATTCTATCTGTACATCAGTCCATTCATTCATTCTTTTTTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCCTGAGTAGCTGGAATTACAGGCAAACCCCACCATGCCCGGCTAGTTTTTCTATTTTCAATAGAGATGGGGTTTCACCATGTTGTCCAGGTTGGTCTCGAACTCCTGACTTCAAGTGATCCATCCACCTCGGCCTCCCAAAATGTTGGTATTACAGATGTGAGCCACCATGCCCGGCCCTCATTCATTCATTTTCATATTGACTCCAAATGACCCTGAGTCCAGGCTGCTTGAGATTTATTCTGGCTCAGCTCCTTAGCTCTGTGTCATGGGCGAGTATTCAGCCTCACTGTGCCTAAGTCCCCTTATCTACAAACTGTGCCCATGGCAGCACCCACACATGGGGCTGGCCTGAGGATTATGTTTCATAAAGAACATAAAACTCTGAGTGGGTCCCGGCATGGAGCAGAGGCTTGGGGCGCTGGCTTTGTTAGGCTGTCCCCAAGGAGCCTGACTTATGTTCATCCTCCCATCAGTTTCGAGAACAAACATCACTGGCTCAGTGTGTCCGACCTGCCAAGATGAGCTCCTGGGCTGGGGGAGGGTGGGGCATTTCTGTGGCAAGCAGCATGACTCAAATCAGATCAAGACACAGAGTACAGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTG
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GCCAGGTCTCTAGGAACCCCACCCCCATCAGGCAGTGTGCTGCAGTAGAAACACACAGCTTTGGGCCAGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAGTACAAAAAATTAGCCAGGTGTGGTGGCTCATGCCTGTAGGCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGTACAAGACTCTGTCTCGGAAAAAAAAAAAAGAAAGAAATTATCTGGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTATCTGTGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAAAAAAAATTAGCTGGGTCTGGTGGCGTGTGCCTGTAATCCCAGCTACCTGTGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAATAAAAATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTGAGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGTTAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAGTAGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATGGTTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCTAGATCGTGCCATTGCACATCAGCCTGGGTGACAGGGCAAGACTCTGTCTCAAAATAAATAAATAAATTAATTTAATTTAATTTAAAAATAAAAATAAACAGGATTAGCCAGGCGTGGTGCACATGCCTATGGTCTCAGCTACTGGGAAGGCTGAGACAGGAGAATCACTTGAGCCTGGGAGTTTAAGGCCAGCCTGGGCAACATGGTGAGACCTGTCTCTAAAAAAAATTTTGTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGATGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGATGATGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATGGCATCACTGTACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTTGTTTTAAATTGAAAAAAGGATGAGCACACCAGCCTCACAGTGTGTGTGGCAGTGTCCCACGGGGCATCTGGGCCTGTCTCATTTCAGTTTGTTTCCACAGATATGCATGGCATTGCTGCTTGTTTGTAGGGGCTTAAGGGAAGACAGCTTGAATAAATATAGCTCCTGCCCTCCAGGTGCTTAGAGTCGGGTGTATATGTGAGTGTAGGAGAGAGGCAGGGAGCAAGAGGGCAGCACCAGGGAAGAGCCTGGTGATGGAAGCCGGGGAGGCTTCTTGGAGGAGGTCACCCAAGGCAGGCAGATGTGAGGTGCAGAAGCCTGCAGGGCAGCACAAGCCTGCCTGGCTGGATGGCAGTATCACTGATTTGGGGCCGGGGAGGGTCTTCATCTCGCTGACCCTCAGGGGCCATCCCTCTGCCTCCAGGAAACATCGTGGGAATCGGCCGGTGCCTGCTGCATGGCATGACGGTGGTGATTCGGAAGAAGTTCTCAGCCTCCCGGTTCTGGGACGATTGTATCAAGTACAACTGCACGGTGAGCGAGAGCGGGAAGGGTGAGCTGTCCCTTTCCCCTAGTTACCCTCTTCCCAACTACACTCCGGGGCATCTGTCTTATAGCTGAGGTGGCCAGTCATTCCAAAGGGCTCATTTGTGGCAAAGTTCCCATTGTTCAGATGGGAAGGCTGAGACCCGGAGAGGGAAAGGATGGCATGGCCAGCCCCTGGGGAGAGTAGGGGCTTGAGGGATCAGGAGAATCCTAGTGTAGTGAGGGCAGCCTCTGGAGCCTCGAATCACACCAAGTTCACCCCCAGATTGTGCAGTACATTGGTGAACTGTGCCGCTACCTCCTGAACCAGCCACCGCGGGAGGCAGAAAACCAGCACCAGGTTCGCATGGCACTAGGCAATGGCCTCCGGCAGTCCATCTGGACCAACTTTTCCAGCCGCTTCCACATACCCCAGGTGGCTGAGTTCTACGGGGCCACAGAGTGCAACTGTAGCCTGGGCAACTTCGACAGCCAGGTGCGGCCAGGTTGGGGATGGGCGAGGCTGCTGCAGGGATGGCCCACAGAAGGCACTGGATGCAGAGGGGAGGGCAGAGTTCGAGCGTGAGAGTGTGGGTGCTGGAGTCCCACTTCCCCCTCATTGTCCAGTTTTGGGCCCATGGTGAGAGAGCCCAGGCCCAAGTCTTGGCCTTCGCAGGTGGGGGCCTGTGGTTTCAATAGCCGCATCCTGTCCTTCGTGTACCCCATCCGGTTGGTACGTGTCAACGAGGACACCATGGAGCTGATCCGGGGGCCCGACGGCGTCTGCATTCCCTGCCAGCCAGGTCTGCCACTTCGGGGTCAGAGAGGGAGGGGTTGGCCTGGGAAGGAAGGAGGCCAGGCGCGTGTGGATGGGGAGCCTTGTTCTGACCAGTGGCCATCAGTTATCTCTGCTCTTAGGGTTACAAGTTACTCATTTATTTGTGTATCCATCCATTCATTCATTCATTCGCCATTCTATCTGTACATCAGTCCATTCATTCATTCTTTTTTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCCTGAGTAGCTGGAATTACAGGCAAACCCCACCATGCCCGGCTAGTTTTTCTATTTTCAATAGAGATGGGGTTTCACCATGTTGTCCAGGTTGGTCTCGAACTCCTGACTTCAAGTGATCCATCCACCTCGGCCTCCCAAAATGTTGGTATTACAGATGTGAGCCACCATGCCCGGCCCTCATTCATTCATTTTCATATTGACTCCAAATGACCCTGAGTCCAGGCTGCTTGAGATTTATTCTGGCTCAGCTCCTTAGCTCTGTGTCATGGGCGAGTATTCAGCCTCACTGTGCCTAAGTCCCCTTATCTACAAACTGTGCCCATGGCAGCACCCACACATGGGGCTGGCCTGAGGATTATGTTTCATAAAGAACATAAAACTCTGAGTGGGTCCCGGCATGGAGCAGAGGCTTGGGGCGCTGGCTTTGTTAGGCTGTCCCCAAGGAGCCTGACTTATGTTCATCCTCCCATCAGTTTCGAGAACAAACATCACTGGCTCAGTGTGTCCGACCTGCCAAGATGAGCTCCTGGGCTGGGGGAGGGTGGGGCATTTCTGTGGCAAGCAGCATGACTCAAATCAGATCAAGACACAGAGTACAGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTG
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Task1_train_13284
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The following genetic variant occurs in SLC27A4 (solute carrier family 27 member 4) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Ichthyosis prematurity syndrome
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AGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAATAAAAATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTGAGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGTTAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAGTAGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATGGTTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCTAGATCGTGCCATTGCACATCAGCCTGGGTGACAGGGCAAGACTCTGTCTCAAAATAAATAAATAAATTAATTTAATTTAATTTAAAAATAAAAATAAACAGGATTAGCCAGGCGTGGTGCACATGCCTATGGTCTCAGCTACTGGGAAGGCTGAGACAGGAGAATCACTTGAGCCTGGGAGTTTAAGGCCAGCCTGGGCAACATGGTGAGACCTGTCTCTAAAAAAAATTTTGTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGATGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGATGATGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATGGCATCACTGTACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTTGTTTTAAATTGAAAAAAGGATGAGCACACCAGCCTCACAGTGTGTGTGGCAGTGTCCCACGGGGCATCTGGGCCTGTCTCATTTCAGTTTGTTTCCACAGATATGCATGGCATTGCTGCTTGTTTGTAGGGGCTTAAGGGAAGACAGCTTGAATAAATATAGCTCCTGCCCTCCAGGTGCTTAGAGTCGGGTGTATATGTGAGTGTAGGAGAGAGGCAGGGAGCAAGAGGGCAGCACCAGGGAAGAGCCTGGTGATGGAAGCCGGGGAGGCTTCTTGGAGGAGGTCACCCAAGGCAGGCAGATGTGAGGTGCAGAAGCCTGCAGGGCAGCACAAGCCTGCCTGGCTGGATGGCAGTATCACTGATTTGGGGCCGGGGAGGGTCTTCATCTCGCTGACCCTCAGGGGCCATCCCTCTGCCTCCAGGAAACATCGTGGGAATCGGCCAGTGCCTGCTGCATGGCATGACGGTGGTGATTCGGAAGAAGTTCTCAGCCTCCCGGTTCTGGGACGATTGTATCAAGTACAACTGCACGGTGAGCGAGAGCGGGAAGGGTGAGCTGTCCCTTTCCCCTAGTTACCCTCTTCCCAACTACACTCCGGGGCATCTGTCTTATAGCTGAGGTGGCCAGTCATTCCAAAGGGCTCATTTGTGGCAAAGTTCCCATTGTTCAGATGGGAAGGCTGAGACCCGGAGAGGGAAAGGATGGCATGGCCAGCCCCTGGGGAGAGTAGGGGCTTGAGGGATCAGGAGAATCCTAGTGTAGTGAGGGCAGCCTCTGGAGCCTCGAATCACACCAAGTTCACCCCCAGATTGTGCAGTACATTGGTGAACTGTGCCGCTACCTCCTGAACCAGCCACCGCGGGAGGCAGAAAACCAGCACCAGGTTCGCATGGCACTAGGCAATGGCCTCCGGCAGTCCATCTGGACCAACTTTTCCAGCCGCTTCCACATACCCCAGGTGGCTGAGTTCTACGGGGCCACAGAGTGCAACTGTAGCCTGGGCAACTTCGACAGCCAGGTGCGGCCAGGTTGGGGATGGGCGAGGCTGCTGCAGGGATGGCCCACAGAAGGCACTGGATGCAGAGGGGAGGGCAGAGTTCGAGCGTGAGAGTGTGGGTGCTGGAGTCCCACTTCCCCCTCATTGTCCAGTTTTGGGCCCATGGTGAGAGAGCCCAGGCCCAAGTCTTGGCCTTCGCAGGTGGGGGCCTGTGGTTTCAATAGCCGCATCCTGTCCTTCGTGTACCCCATCCGGTTGGTACGTGTCAACGAGGACACCATGGAGCTGATCCGGGGGCCCGACGGCGTCTGCATTCCCTGCCAGCCAGGTCTGCCACTTCGGGGTCAGAGAGGGAGGGGTTGGCCTGGGAAGGAAGGAGGCCAGGCGCGTGTGGATGGGGAGCCTTGTTCTGACCAGTGGCCATCAGTTATCTCTGCTCTTAGGGTTACAAGTTACTCATTTATTTGTGTATCCATCCATTCATTCATTCATTCGCCATTCTATCTGTACATCAGTCCATTCATTCATTCTTTTTTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCCTGAGTAGCTGGAATTACAGGCAAACCCCACCATGCCCGGCTAGTTTTTCTATTTTCAATAGAGATGGGGTTTCACCATGTTGTCCAGGTTGGTCTCGAACTCCTGACTTCAAGTGATCCATCCACCTCGGCCTCCCAAAATGTTGGTATTACAGATGTGAGCCACCATGCCCGGCCCTCATTCATTCATTTTCATATTGACTCCAAATGACCCTGAGTCCAGGCTGCTTGAGATTTATTCTGGCTCAGCTCCTTAGCTCTGTGTCATGGGCGAGTATTCAGCCTCACTGTGCCTAAGTCCCCTTATCTACAAACTGTGCCCATGGCAGCACCCACACATGGGGCTGGCCTGAGGATTATGTTTCATAAAGAACATAAAACTCTGAGTGGGTCCCGGCATGGAGCAGAGGCTTGGGGCGCTGGCTTTGTTAGGCTGTCCCCAAGGAGCCTGACTTATGTTCATCCTCCCATCAGTTTCGAGAACAAACATCACTGGCTCAGTGTGTCCGACCTGCCAAGATGAGCTCCTGGGCTGGGGGAGGGTGGGGCATTTCTGTGGCAAGCAGCATGACTCAAATCAGATCAAGACACAGAGTACAGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACAGGATGAAACCCATCTTTACTAAAAAATAAAAAAAAAAAATTAGCTGGGCCTGTTGGCGTGTGCCTGTAATCTCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTAAGCCAAGATTGCACTGCTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGACGCAGGGTACACCTGGTGACAGGACGGGTGGGAGAGGCTGCCTAGGGCAGATCTGACCCTGCCTTCCCCACCCCAGGTGAGCCGGGCCAGCTGGTGGGCCGCATCATCCAGAAAGACCCCCTGCGCCGCTTCGATGGCTACCTCAACCAGGGCGCCAACAACAAGAAGATTGCCAAGGATGTCTTCAAGAAGGGGGACCAGGCCTACCTTACTGGTGGGTCCCCAGCCCTTCACAGCCCCTTCCTGAGGGTTGGGGGAGGAGGGGACCTTCTCCCACCTCCAGAGGACACCTTCCCAGGACTCCCCCAGTCCTGGCCCTTGTGGTCAAACAAATCCTTGGGCTCCAGCAAAGCCTCCCTGGCTTGAGCCCTGGTCTCAGAGCTGGCCAGGCCCAGCCCTGCCTCATCCGGCCCCTCCCTAGGTGATGTGCTGGTGATGGACGAGCTGGGCTACCTGTACTTCCGAGACCGCACTGGGGACACGTTCCGCTGGAAAG
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AGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAATAAAAATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTGAGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGTTAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAGTAGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATGGTTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCTAGATCGTGCCATTGCACATCAGCCTGGGTGACAGGGCAAGACTCTGTCTCAAAATAAATAAATAAATTAATTTAATTTAATTTAAAAATAAAAATAAACAGGATTAGCCAGGCGTGGTGCACATGCCTATGGTCTCAGCTACTGGGAAGGCTGAGACAGGAGAATCACTTGAGCCTGGGAGTTTAAGGCCAGCCTGGGCAACATGGTGAGACCTGTCTCTAAAAAAAATTTTGTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGATGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGATGATGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATGGCATCACTGTACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTTGTTTTAAATTGAAAAAAGGATGAGCACACCAGCCTCACAGTGTGTGTGGCAGTGTCCCACGGGGCATCTGGGCCTGTCTCATTTCAGTTTGTTTCCACAGATATGCATGGCATTGCTGCTTGTTTGTAGGGGCTTAAGGGAAGACAGCTTGAATAAATATAGCTCCTGCCCTCCAGGTGCTTAGAGTCGGGTGTATATGTGAGTGTAGGAGAGAGGCAGGGAGCAAGAGGGCAGCACCAGGGAAGAGCCTGGTGATGGAAGCCGGGGAGGCTTCTTGGAGGAGGTCACCCAAGGCAGGCAGATGTGAGGTGCAGAAGCCTGCAGGGCAGCACAAGCCTGCCTGGCTGGATGGCAGTATCACTGATTTGGGGCCGGGGAGGGTCTTCATCTCGCTGACCCTCAGGGGCCATCCCTCTGCCTCCAGGAAACATCGTGGGAATCGGCCAGTGCCTGCTGCATGGCATGACGGTGGTGATTCGGAAGAAGTTCTCAGCCTCCCGGTTCTGGGACGATTGTATCAAGTACAACTGCACGGTGAGCGAGAGCGGGAAGGGTGAGCTGTCCCTTTCCCCTAGTTACCCTCTTCCCAACTACACTCCGGGGCATCTGTCTTATAGCTGAGGTGGCCAGTCATTCCAAAGGGCTCATTTGTGGCAAAGTTCCCATTGTTCAGATGGGAAGGCTGAGACCCGGAGAGGGAAAGGATGGCATGGCCAGCCCCTGGGGAGAGTAGGGGCTTGAGGGATCAGGAGAATCCTAGTGTAGTGAGGGCAGCCTCTGGAGCCTCGAATCACACCAAGTTCACCCCCAGATTGTGCAGTACATTGGTGAACTGTGCCGCTACCTCCTGAACCAGCCACCGCGGGAGGCAGAAAACCAGCACCAGGTTCGCATGGCACTAGGCAATGGCCTCCGGCAGTCCATCTGGACCAACTTTTCCAGCCGCTTCCACATACCCCAGGTGGCTGAGTTCTACGGGGCCACAGAGTGCAACTGTAGCCTGGGCAACTTCGACAGCCAGGTGCGGCCAGGTTGGGGATGGGCGAGGCTGCTGCAGGGATGGCCCACAGAAGGCACTGGATGCAGAGGGGAGGGCAGAGTTCGAGCGTGAGAGTGTGGGTGCTGGAGTCCCACTTCCCCCTCATTGTCCAGTTTTGGGCCCATGGTGAGAGAGCCCAGGCCCAAGTCTTGGCCTTCGCAGGTGGGGGCCTATGGTTTCAATAGCCGCATCCTGTCCTTCGTGTACCCCATCCGGTTGGTACGTGTCAACGAGGACACCATGGAGCTGATCCGGGGGCCCGACGGCGTCTGCATTCCCTGCCAGCCAGGTCTGCCACTTCGGGGTCAGAGAGGGAGGGGTTGGCCTGGGAAGGAAGGAGGCCAGGCGCGTGTGGATGGGGAGCCTTGTTCTGACCAGTGGCCATCAGTTATCTCTGCTCTTAGGGTTACAAGTTACTCATTTATTTGTGTATCCATCCATTCATTCATTCATTCGCCATTCTATCTGTACATCAGTCCATTCATTCATTCTTTTTTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCCTGAGTAGCTGGAATTACAGGCAAACCCCACCATGCCCGGCTAGTTTTTCTATTTTCAATAGAGATGGGGTTTCACCATGTTGTCCAGGTTGGTCTCGAACTCCTGACTTCAAGTGATCCATCCACCTCGGCCTCCCAAAATGTTGGTATTACAGATGTGAGCCACCATGCCCGGCCCTCATTCATTCATTTTCATATTGACTCCAAATGACCCTGAGTCCAGGCTGCTTGAGATTTATTCTGGCTCAGCTCCTTAGCTCTGTGTCATGGGCGAGTATTCAGCCTCACTGTGCCTAAGTCCCCTTATCTACAAACTGTGCCCATGGCAGCACCCACACATGGGGCTGGCCTGAGGATTATGTTTCATAAAGAACATAAAACTCTGAGTGGGTCCCGGCATGGAGCAGAGGCTTGGGGCGCTGGCTTTGTTAGGCTGTCCCCAAGGAGCCTGACTTATGTTCATCCTCCCATCAGTTTCGAGAACAAACATCACTGGCTCAGTGTGTCCGACCTGCCAAGATGAGCTCCTGGGCTGGGGGAGGGTGGGGCATTTCTGTGGCAAGCAGCATGACTCAAATCAGATCAAGACACAGAGTACAGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACAGGATGAAACCCATCTTTACTAAAAAATAAAAAAAAAAAATTAGCTGGGCCTGTTGGCGTGTGCCTGTAATCTCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTAAGCCAAGATTGCACTGCTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGACGCAGGGTACACCTGGTGACAGGACGGGTGGGAGAGGCTGCCTAGGGCAGATCTGACCCTGCCTTCCCCACCCCAGGTGAGCCGGGCCAGCTGGTGGGCCGCATCATCCAGAAAGACCCCCTGCGCCGCTTCGATGGCTACCTCAACCAGGGCGCCAACAACAAGAAGATTGCCAAGGATGTCTTCAAGAAGGGGGACCAGGCCTACCTTACTGGTGGGTCCCCAGCCCTTCACAGCCCCTTCCTGAGGGTTGGGGGAGGAGGGGACCTTCTCCCACCTCCAGAGGACACCTTCCCAGGACTCCCCCAGTCCTGGCCCTTGTGGTCAAACAAATCCTTGGGCTCCAGCAAAGCCTCCCTGGCTTGAGCCCTGGTCTCAGAGCTGGCCAGGCCCAGCCCTGCCTCATCCGGCCCCTCCCTAGGTGATGTGCTGGTGATGGACGAGCTGGGCTACCTGTACTTCCGAGACCGCACTGGGGACACGTTCCGCTGGAAAG
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Task1_train_13285
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A variant affecting Chromosome 9, within the gene SLC27A4 (solute carrier family 27 member 4), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Ichthyosis prematurity syndrome
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TGGGGGCCTGTGGTTTCAATAGCCGCATCCTGTCCTTCGTGTACCCCATCCGGTTGGTACGTGTCAACGAGGACACCATGGAGCTGATCCGGGGGCCCGACGGCGTCTGCATTCCCTGCCAGCCAGGTCTGCCACTTCGGGGTCAGAGAGGGAGGGGTTGGCCTGGGAAGGAAGGAGGCCAGGCGCGTGTGGATGGGGAGCCTTGTTCTGACCAGTGGCCATCAGTTATCTCTGCTCTTAGGGTTACAAGTTACTCATTTATTTGTGTATCCATCCATTCATTCATTCATTCGCCATTCTATCTGTACATCAGTCCATTCATTCATTCTTTTTTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCCTGAGTAGCTGGAATTACAGGCAAACCCCACCATGCCCGGCTAGTTTTTCTATTTTCAATAGAGATGGGGTTTCACCATGTTGTCCAGGTTGGTCTCGAACTCCTGACTTCAAGTGATCCATCCACCTCGGCCTCCCAAAATGTTGGTATTACAGATGTGAGCCACCATGCCCGGCCCTCATTCATTCATTTTCATATTGACTCCAAATGACCCTGAGTCCAGGCTGCTTGAGATTTATTCTGGCTCAGCTCCTTAGCTCTGTGTCATGGGCGAGTATTCAGCCTCACTGTGCCTAAGTCCCCTTATCTACAAACTGTGCCCATGGCAGCACCCACACATGGGGCTGGCCTGAGGATTATGTTTCATAAAGAACATAAAACTCTGAGTGGGTCCCGGCATGGAGCAGAGGCTTGGGGCGCTGGCTTTGTTAGGCTGTCCCCAAGGAGCCTGACTTATGTTCATCCTCCCATCAGTTTCGAGAACAAACATCACTGGCTCAGTGTGTCCGACCTGCCAAGATGAGCTCCTGGGCTGGGGGAGGGTGGGGCATTTCTGTGGCAAGCAGCATGACTCAAATCAGATCAAGACACAGAGTACAGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACAGGATGAAACCCATCTTTACTAAAAAATAAAAAAAAAAAATTAGCTGGGCCTGTTGGCGTGTGCCTGTAATCTCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTAAGCCAAGATTGCACTGCTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGACGCAGGGTACACCTGGTGACAGGACGGGTGGGAGAGGCTGCCTAGGGCAGATCTGACCCTGCCTTCCCCACCCCAGGTGAGCCGGGCCAGCTGGTGGGCCGCATCATCCAGAAAGACCCCCTGCGCCGCTTCGATGGCTACCTCAACCAGGGCGCCAACAACAAGAAGATTGCCAAGGATGTCTTCAAGAAGGGGGACCAGGCCTACCTTACTGGTGGGTCCCCAGCCCTTCACAGCCCCTTCCTGAGGGTTGGGGGAGGAGGGGACCTTCTCCCACCTCCAGAGGACACCTTCCCAGGACTCCCCCAGTCCTGGCCCTTGTGGTCAAACAAATCCTTGGGCTCCAGCAAAGCCTCCCTGGCTTGAGCCCTGGTCTCAGAGCTGGCCAGGCCCAGCCCTGCCTCATCCGGCCCCTCCCTAGGTGATGTGCTGGTGATGGACGAGCTGGGCTACCTGTACTTCCGAGACCGCACTGGGGACACGTTCCGCTGGAAAGGTGAGAACGTGTCCACCACCGAGGTGGAAGGCACACTCAGCCGCCTGCTGGACATGGCTGACGTGGCCGTGTATGGTGTCGAGGTGCCAGGTATGTGCAGGCAGGCGCGAGGTGTGGGTAGGGAGGCACCACCCAGGGGCACCACCAGCTACTCAGTGTCTACCCTGCCACCCCCAGGAACCGAGGGCCGGGCCGGAATGGCTGCTGTGGCCAGCCCCACTGGCAACTGTGACCTGGAGCGCTTTGCTCAGGTCTTGGAGAAGGAACTGCCCCTGTATGCGCGCCCCATCTTCCTGCGCCTCCTGCCTGAGCTGCACAAAACAGGTGTGTCCCTCCCCTGCTCCAGCTCTCGGATCCCAGGTCCCTTCCCGTTTCCTTCTGGAGAGACCCGGTTGGCTGTTACTTGACCTCTGCACACAGCCTGGCCGGGCAGTTGGTAAAGTGACCTGCCTGTGTAGAGGTGAGCAGACGGGGCTGGCAGAGAAGACACACATTGTTCCTTAGTAGAACACATATTAGGTGCCAGGCACAGCGCTAAGCCTCGGGATACGGCTGGTGAGCTCTGGATGTTTTGCCTTCTTGGAGTTTTAGAGCAGGAGAGAGGCTGGCCTAGGACAAGGCATTCCAAAGGTAAAGAATCGACCACATAATCTGTCATGAGATTAGAGTTAAACAGATAAAAAGAAAAATGAACCACAGAGCAAGCTGATAGGAAAGCAAAAAGGTGGGACGCTTGGGATGACTAGAAGGCTCCTCTGAGGAGGGGATGGTTCAGCTGAGACCTGAATGAAAGGAAGGACTTTATGGCGGTGGGAGGCACTCTAGGCTGCAGGAATAGACACTGTAAAGCCCCCGAAGCAGGAAGGAGCTTGGGTGCTGGAGGAACGAAAGGGGGCCCCCAAGGCTGGAGCCAAGTGAGAGGGGCAGGCAGTGGCATGAAGTGGGAGAGAAACCAGCAGGGGCCAGAAGCCCAGGGCCTTGCAGGCCAGGGTAAGAGTCGGGACTGTCCCGGGGGCAGTAGGGAGCCACAGAAGCATCTCAGCAAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACATGGCAAAACCCCGTCTCCACTAAACATATAAAAATTAGCTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGAGGCCAAGGTGGGCGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATGCCATCTCCACTAAAAATACAAACATAAAAATAAAAAAATTAGGCTGAGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGATGGATTGCCTGAGCTCAGGAGTTTGAGACCATCCAGGGCAACATGATGAAACCCCGTCTCTACCAAAAATACAAAAAAATTAGCCAGGTATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGCAGCAGGAGGATCGCTTGAGCCCCGGAGGTGGAGGTTGTAGTAAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAAGCACTTGAACCTGGGAGGTGGAGGTTGCAGTAAACCGAGACCGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGTACATACCTGTAATCCAGCGACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGACCCAGGAGCCACAGGTTGCAGTGAGCTGAGATCATGCCACTACACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAGCATCTTAGCAGGTGGGAACCTGGTCAGACTCATGCTCTACAAAGCTCTCTGGCTGCTGTGTA
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TGGGGGCCTGTGGTTTCAATAGCCGCATCCTGTCCTTCGTGTACCCCATCCGGTTGGTACGTGTCAACGAGGACACCATGGAGCTGATCCGGGGGCCCGACGGCGTCTGCATTCCCTGCCAGCCAGGTCTGCCACTTCGGGGTCAGAGAGGGAGGGGTTGGCCTGGGAAGGAAGGAGGCCAGGCGCGTGTGGATGGGGAGCCTTGTTCTGACCAGTGGCCATCAGTTATCTCTGCTCTTAGGGTTACAAGTTACTCATTTATTTGTGTATCCATCCATTCATTCATTCATTCGCCATTCTATCTGTACATCAGTCCATTCATTCATTCTTTTTTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCCTGAGTAGCTGGAATTACAGGCAAACCCCACCATGCCCGGCTAGTTTTTCTATTTTCAATAGAGATGGGGTTTCACCATGTTGTCCAGGTTGGTCTCGAACTCCTGACTTCAAGTGATCCATCCACCTCGGCCTCCCAAAATGTTGGTATTACAGATGTGAGCCACCATGCCCGGCCCTCATTCATTCATTTTCATATTGACTCCAAATGACCCTGAGTCCAGGCTGCTTGAGATTTATTCTGGCTCAGCTCCTTAGCTCTGTGTCATGGGCGAGTATTCAGCCTCACTGTGCCTAAGTCCCCTTATCTACAAACTGTGCCCATGGCAGCACCCACACATGGGGCTGGCCTGAGGATTATGTTTCATAAAGAACATAAAACTCTGAGTGGGTCCCGGCATGGAGCAGAGGCTTGGGGCGCTGGCTTTGTTAGGCTGTCCCCAAGGAGCCTGACTTATGTTCATCCTCCCATCAGTTTCGAGAACAAACATCACTGGCTCAGTGTGTCCGACCTGCCAAGATGAGCTCCTGGGCTGGGGGAGGGTGGGGCATTTCTGTGGCAAGCAGCATGACTCAAATCAGATCAAGACACAGAGTACAGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACAGGATGAAACCCATCTTTACTAAAAAATAAAAAAAAAAAATTAGCTGGGCCTGTTGGCGTGTGCCTGTAATCTCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTAAGCCAAGATTGCACTGCTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGACGCAGGGTACACCTGGTGACAGGACGGGTGGGAGAGGCTGCCTAGGGCAGATCTGACCCTGCCTTCCCCACCCCAGGTGAGCCGGGCCAGCTGGTGGGCCGCATCATCCAGAAAGACCCCCTGCGCCGCTTCGATGGCTACCTCAACCAGGGCGCCAACAACAAGAAGATTGCCAAGGATGTCTTCAAGAAGGGGGACCAGGCCTACCTTACTGGTGGGTCCCCAGCCCTTCACAGCCCCTTCCTGAGGGTTGGGGGAGGAGGGGACCTTCTCCCACCTCCAGAGGACACCTTCCCAGGACTCCCCCAGTCCTGGCCCTTGTGGTCAAACAAATCCTTGGGCTCCAGCAAAGCCTCCCTGGCTTGAGCCCTGGTCTCAGAGCTGGCCAGGCCCAGCCCTGCCTCATCCGGCCCCTCCCTAGGTGATGTGCTGGTGATGGACGAGCTGGGCTACCTGTACTTCCGAGACCGCACTGGGGACACGTTCCACTGGAAAGGTGAGAACGTGTCCACCACCGAGGTGGAAGGCACACTCAGCCGCCTGCTGGACATGGCTGACGTGGCCGTGTATGGTGTCGAGGTGCCAGGTATGTGCAGGCAGGCGCGAGGTGTGGGTAGGGAGGCACCACCCAGGGGCACCACCAGCTACTCAGTGTCTACCCTGCCACCCCCAGGAACCGAGGGCCGGGCCGGAATGGCTGCTGTGGCCAGCCCCACTGGCAACTGTGACCTGGAGCGCTTTGCTCAGGTCTTGGAGAAGGAACTGCCCCTGTATGCGCGCCCCATCTTCCTGCGCCTCCTGCCTGAGCTGCACAAAACAGGTGTGTCCCTCCCCTGCTCCAGCTCTCGGATCCCAGGTCCCTTCCCGTTTCCTTCTGGAGAGACCCGGTTGGCTGTTACTTGACCTCTGCACACAGCCTGGCCGGGCAGTTGGTAAAGTGACCTGCCTGTGTAGAGGTGAGCAGACGGGGCTGGCAGAGAAGACACACATTGTTCCTTAGTAGAACACATATTAGGTGCCAGGCACAGCGCTAAGCCTCGGGATACGGCTGGTGAGCTCTGGATGTTTTGCCTTCTTGGAGTTTTAGAGCAGGAGAGAGGCTGGCCTAGGACAAGGCATTCCAAAGGTAAAGAATCGACCACATAATCTGTCATGAGATTAGAGTTAAACAGATAAAAAGAAAAATGAACCACAGAGCAAGCTGATAGGAAAGCAAAAAGGTGGGACGCTTGGGATGACTAGAAGGCTCCTCTGAGGAGGGGATGGTTCAGCTGAGACCTGAATGAAAGGAAGGACTTTATGGCGGTGGGAGGCACTCTAGGCTGCAGGAATAGACACTGTAAAGCCCCCGAAGCAGGAAGGAGCTTGGGTGCTGGAGGAACGAAAGGGGGCCCCCAAGGCTGGAGCCAAGTGAGAGGGGCAGGCAGTGGCATGAAGTGGGAGAGAAACCAGCAGGGGCCAGAAGCCCAGGGCCTTGCAGGCCAGGGTAAGAGTCGGGACTGTCCCGGGGGCAGTAGGGAGCCACAGAAGCATCTCAGCAAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACATGGCAAAACCCCGTCTCCACTAAACATATAAAAATTAGCTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGAGGCCAAGGTGGGCGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATGCCATCTCCACTAAAAATACAAACATAAAAATAAAAAAATTAGGCTGAGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGATGGATTGCCTGAGCTCAGGAGTTTGAGACCATCCAGGGCAACATGATGAAACCCCGTCTCTACCAAAAATACAAAAAAATTAGCCAGGTATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGCAGCAGGAGGATCGCTTGAGCCCCGGAGGTGGAGGTTGTAGTAAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAAGCACTTGAACCTGGGAGGTGGAGGTTGCAGTAAACCGAGACCGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGTACATACCTGTAATCCAGCGACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGACCCAGGAGCCACAGGTTGCAGTGAGCTGAGATCATGCCACTACACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAGCATCTTAGCAGGTGGGAACCTGGTCAGACTCATGCTCTACAAAGCTCTCTGGCTGCTGTGTA
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Task1_train_13286
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An alteration has been detected in SLC27A4 (solute carrier family 27 member 4) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not specified
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ACATCAGTCCATTCATTCATTCTTTTTTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCCTGAGTAGCTGGAATTACAGGCAAACCCCACCATGCCCGGCTAGTTTTTCTATTTTCAATAGAGATGGGGTTTCACCATGTTGTCCAGGTTGGTCTCGAACTCCTGACTTCAAGTGATCCATCCACCTCGGCCTCCCAAAATGTTGGTATTACAGATGTGAGCCACCATGCCCGGCCCTCATTCATTCATTTTCATATTGACTCCAAATGACCCTGAGTCCAGGCTGCTTGAGATTTATTCTGGCTCAGCTCCTTAGCTCTGTGTCATGGGCGAGTATTCAGCCTCACTGTGCCTAAGTCCCCTTATCTACAAACTGTGCCCATGGCAGCACCCACACATGGGGCTGGCCTGAGGATTATGTTTCATAAAGAACATAAAACTCTGAGTGGGTCCCGGCATGGAGCAGAGGCTTGGGGCGCTGGCTTTGTTAGGCTGTCCCCAAGGAGCCTGACTTATGTTCATCCTCCCATCAGTTTCGAGAACAAACATCACTGGCTCAGTGTGTCCGACCTGCCAAGATGAGCTCCTGGGCTGGGGGAGGGTGGGGCATTTCTGTGGCAAGCAGCATGACTCAAATCAGATCAAGACACAGAGTACAGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACAGGATGAAACCCATCTTTACTAAAAAATAAAAAAAAAAAATTAGCTGGGCCTGTTGGCGTGTGCCTGTAATCTCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTAAGCCAAGATTGCACTGCTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGACGCAGGGTACACCTGGTGACAGGACGGGTGGGAGAGGCTGCCTAGGGCAGATCTGACCCTGCCTTCCCCACCCCAGGTGAGCCGGGCCAGCTGGTGGGCCGCATCATCCAGAAAGACCCCCTGCGCCGCTTCGATGGCTACCTCAACCAGGGCGCCAACAACAAGAAGATTGCCAAGGATGTCTTCAAGAAGGGGGACCAGGCCTACCTTACTGGTGGGTCCCCAGCCCTTCACAGCCCCTTCCTGAGGGTTGGGGGAGGAGGGGACCTTCTCCCACCTCCAGAGGACACCTTCCCAGGACTCCCCCAGTCCTGGCCCTTGTGGTCAAACAAATCCTTGGGCTCCAGCAAAGCCTCCCTGGCTTGAGCCCTGGTCTCAGAGCTGGCCAGGCCCAGCCCTGCCTCATCCGGCCCCTCCCTAGGTGATGTGCTGGTGATGGACGAGCTGGGCTACCTGTACTTCCGAGACCGCACTGGGGACACGTTCCGCTGGAAAGGTGAGAACGTGTCCACCACCGAGGTGGAAGGCACACTCAGCCGCCTGCTGGACATGGCTGACGTGGCCGTGTATGGTGTCGAGGTGCCAGGTATGTGCAGGCAGGCGCGAGGTGTGGGTAGGGAGGCACCACCCAGGGGCACCACCAGCTACTCAGTGTCTACCCTGCCACCCCCAGGAACCGAGGGCCGGGCCGGAATGGCTGCTGTGGCCAGCCCCACTGGCAACTGTGACCTGGAGCGCTTTGCTCAGGTCTTGGAGAAGGAACTGCCCCTGTATGCGCGCCCCATCTTCCTGCGCCTCCTGCCTGAGCTGCACAAAACAGGTGTGTCCCTCCCCTGCTCCAGCTCTCGGATCCCAGGTCCCTTCCCGTTTCCTTCTGGAGAGACCCGGTTGGCTGTTACTTGACCTCTGCACACAGCCTGGCCGGGCAGTTGGTAAAGTGACCTGCCTGTGTAGAGGTGAGCAGACGGGGCTGGCAGAGAAGACACACATTGTTCCTTAGTAGAACACATATTAGGTGCCAGGCACAGCGCTAAGCCTCGGGATACGGCTGGTGAGCTCTGGATGTTTTGCCTTCTTGGAGTTTTAGAGCAGGAGAGAGGCTGGCCTAGGACAAGGCATTCCAAAGGTAAAGAATCGACCACATAATCTGTCATGAGATTAGAGTTAAACAGATAAAAAGAAAAATGAACCACAGAGCAAGCTGATAGGAAAGCAAAAAGGTGGGACGCTTGGGATGACTAGAAGGCTCCTCTGAGGAGGGGATGGTTCAGCTGAGACCTGAATGAAAGGAAGGACTTTATGGCGGTGGGAGGCACTCTAGGCTGCAGGAATAGACACTGTAAAGCCCCCGAAGCAGGAAGGAGCTTGGGTGCTGGAGGAACGAAAGGGGGCCCCCAAGGCTGGAGCCAAGTGAGAGGGGCAGGCAGTGGCATGAAGTGGGAGAGAAACCAGCAGGGGCCAGAAGCCCAGGGCCTTGCAGGCCAGGGTAAGAGTCGGGACTGTCCCGGGGGCAGTAGGGAGCCACAGAAGCATCTCAGCAAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACATGGCAAAACCCCGTCTCCACTAAACATATAAAAATTAGCTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGAGGCCAAGGTGGGCGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATGCCATCTCCACTAAAAATACAAACATAAAAATAAAAAAATTAGGCTGAGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGATGGATTGCCTGAGCTCAGGAGTTTGAGACCATCCAGGGCAACATGATGAAACCCCGTCTCTACCAAAAATACAAAAAAATTAGCCAGGTATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGCAGCAGGAGGATCGCTTGAGCCCCGGAGGTGGAGGTTGTAGTAAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAAGCACTTGAACCTGGGAGGTGGAGGTTGCAGTAAACCGAGACCGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGTACATACCTGTAATCCAGCGACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGACCCAGGAGCCACAGGTTGCAGTGAGCTGAGATCATGCCACTACACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAGCATCTTAGCAGGTGGGAACCTGGTCAGACTCATGCTCTACAAAGCTCTCTGGCTGCTGTGTACGGAGTGGGAGAGGATTGCAGGCAGCCCTGAGGGAGCTGGGAGACGAGGGAGGGGCTGTTGCAGTTGTCCAGGTGGGAGGTGGGCAGCGGGCCCGCAGTCGCCCACAAGGCAGCACCATCTTTCTATCTGTTGGCCCATTGGTGGCTCTCAAGAGTTCCCTGGTGGGCAGGAAATGCTGAGGCTCATGCCCATACCTGCCCCTGCTTTCCTCAGCCCTTGGTGCCTCTTCTGGGCCCTCCCTGGCTGCTCACCCTTTGGAGCACATTTCCCTGGCCACCTCCCACGTTGTCGTCATATCAGTCCTG
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ACATCAGTCCATTCATTCATTCTTTTTTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCCTGAGTAGCTGGAATTACAGGCAAACCCCACCATGCCCGGCTAGTTTTTCTATTTTCAATAGAGATGGGGTTTCACCATGTTGTCCAGGTTGGTCTCGAACTCCTGACTTCAAGTGATCCATCCACCTCGGCCTCCCAAAATGTTGGTATTACAGATGTGAGCCACCATGCCCGGCCCTCATTCATTCATTTTCATATTGACTCCAAATGACCCTGAGTCCAGGCTGCTTGAGATTTATTCTGGCTCAGCTCCTTAGCTCTGTGTCATGGGCGAGTATTCAGCCTCACTGTGCCTAAGTCCCCTTATCTACAAACTGTGCCCATGGCAGCACCCACACATGGGGCTGGCCTGAGGATTATGTTTCATAAAGAACATAAAACTCTGAGTGGGTCCCGGCATGGAGCAGAGGCTTGGGGCGCTGGCTTTGTTAGGCTGTCCCCAAGGAGCCTGACTTATGTTCATCCTCCCATCAGTTTCGAGAACAAACATCACTGGCTCAGTGTGTCCGACCTGCCAAGATGAGCTCCTGGGCTGGGGGAGGGTGGGGCATTTCTGTGGCAAGCAGCATGACTCAAATCAGATCAAGACACAGAGTACAGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACAGGATGAAACCCATCTTTACTAAAAAATAAAAAAAAAAAATTAGCTGGGCCTGTTGGCGTGTGCCTGTAATCTCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTAAGCCAAGATTGCACTGCTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGACGCAGGGTACACCTGGTGACAGGACGGGTGGGAGAGGCTGCCTAGGGCAGATCTGACCCTGCCTTCCCCACCCCAGGTGAGCCGGGCCAGCTGGTGGGCCGCATCATCCAGAAAGACCCCCTGCGCCGCTTCGATGGCTACCTCAACCAGGGCGCCAACAACAAGAAGATTGCCAAGGATGTCTTCAAGAAGGGGGACCAGGCCTACCTTACTGGTGGGTCCCCAGCCCTTCACAGCCCCTTCCTGAGGGTTGGGGGAGGAGGGGACCTTCTCCCACCTCCAGAGGACACCTTCCCAGGACTCCCCCAGTCCTGGCCCTTGTGGTCAAACAAATCCTTGGGCTCCAGCAAAGCCTCCCTGGCTTGAGCCCTGGTCTCAGAGCTGGCCAGGCCCAGCCCTGCCTCATCCGGCCCCTCCCTAGGTGATGTGCTGGTGATGGACGAGCTGGGCTACCTGTACTTCCGAGACCGCACTGGGGACACGTTCCGCTGGAAAGGTGAGAACGTGTCCACCACCGAGGTGGAAGGCACACTCAGCCGCCTGCTGGACATGGCTGACGTGGCCGTGTATGGTGTCGAGGTGCCAGGTATGTGCAGGCAGGCGCGAGGTGTGGGTAGGGAGGCACCACCCAGGGGCACCACCAGCTACTCAGTGTCTACCCTGCCACCCCCAGGAACCGAGGGCCGGGCCGGAATGGCTGCTGTGGCCAGCCCCACTGGCAACTGTGACCTGGAGCGCTTTGCTCAGGTCTTGGAGAAGGAACTGCCCCTGTATGCGCGCCCCATCTTCCTGCACCTCCTGCCTGAGCTGCACAAAACAGGTGTGTCCCTCCCCTGCTCCAGCTCTCGGATCCCAGGTCCCTTCCCGTTTCCTTCTGGAGAGACCCGGTTGGCTGTTACTTGACCTCTGCACACAGCCTGGCCGGGCAGTTGGTAAAGTGACCTGCCTGTGTAGAGGTGAGCAGACGGGGCTGGCAGAGAAGACACACATTGTTCCTTAGTAGAACACATATTAGGTGCCAGGCACAGCGCTAAGCCTCGGGATACGGCTGGTGAGCTCTGGATGTTTTGCCTTCTTGGAGTTTTAGAGCAGGAGAGAGGCTGGCCTAGGACAAGGCATTCCAAAGGTAAAGAATCGACCACATAATCTGTCATGAGATTAGAGTTAAACAGATAAAAAGAAAAATGAACCACAGAGCAAGCTGATAGGAAAGCAAAAAGGTGGGACGCTTGGGATGACTAGAAGGCTCCTCTGAGGAGGGGATGGTTCAGCTGAGACCTGAATGAAAGGAAGGACTTTATGGCGGTGGGAGGCACTCTAGGCTGCAGGAATAGACACTGTAAAGCCCCCGAAGCAGGAAGGAGCTTGGGTGCTGGAGGAACGAAAGGGGGCCCCCAAGGCTGGAGCCAAGTGAGAGGGGCAGGCAGTGGCATGAAGTGGGAGAGAAACCAGCAGGGGCCAGAAGCCCAGGGCCTTGCAGGCCAGGGTAAGAGTCGGGACTGTCCCGGGGGCAGTAGGGAGCCACAGAAGCATCTCAGCAAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACATGGCAAAACCCCGTCTCCACTAAACATATAAAAATTAGCTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGAGGCCAAGGTGGGCGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATGCCATCTCCACTAAAAATACAAACATAAAAATAAAAAAATTAGGCTGAGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGATGGATTGCCTGAGCTCAGGAGTTTGAGACCATCCAGGGCAACATGATGAAACCCCGTCTCTACCAAAAATACAAAAAAATTAGCCAGGTATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGCAGCAGGAGGATCGCTTGAGCCCCGGAGGTGGAGGTTGTAGTAAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAAGCACTTGAACCTGGGAGGTGGAGGTTGCAGTAAACCGAGACCGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGTACATACCTGTAATCCAGCGACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGACCCAGGAGCCACAGGTTGCAGTGAGCTGAGATCATGCCACTACACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAGCATCTTAGCAGGTGGGAACCTGGTCAGACTCATGCTCTACAAAGCTCTCTGGCTGCTGTGTACGGAGTGGGAGAGGATTGCAGGCAGCCCTGAGGGAGCTGGGAGACGAGGGAGGGGCTGTTGCAGTTGTCCAGGTGGGAGGTGGGCAGCGGGCCCGCAGTCGCCCACAAGGCAGCACCATCTTTCTATCTGTTGGCCCATTGGTGGCTCTCAAGAGTTCCCTGGTGGGCAGGAAATGCTGAGGCTCATGCCCATACCTGCCCCTGCTTTCCTCAGCCCTTGGTGCCTCTTCTGGGCCCTCCCTGGCTGCTCACCCTTTGGAGCACATTTCCCTGGCCACCTCCCACGTTGTCGTCATATCAGTCCTG
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Task1_train_13287
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This variant affects the gene SLC27A4 (solute carrier family 27 member 4) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Inborn genetic diseases
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TTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCCTGAGTAGCTGGAATTACAGGCAAACCCCACCATGCCCGGCTAGTTTTTCTATTTTCAATAGAGATGGGGTTTCACCATGTTGTCCAGGTTGGTCTCGAACTCCTGACTTCAAGTGATCCATCCACCTCGGCCTCCCAAAATGTTGGTATTACAGATGTGAGCCACCATGCCCGGCCCTCATTCATTCATTTTCATATTGACTCCAAATGACCCTGAGTCCAGGCTGCTTGAGATTTATTCTGGCTCAGCTCCTTAGCTCTGTGTCATGGGCGAGTATTCAGCCTCACTGTGCCTAAGTCCCCTTATCTACAAACTGTGCCCATGGCAGCACCCACACATGGGGCTGGCCTGAGGATTATGTTTCATAAAGAACATAAAACTCTGAGTGGGTCCCGGCATGGAGCAGAGGCTTGGGGCGCTGGCTTTGTTAGGCTGTCCCCAAGGAGCCTGACTTATGTTCATCCTCCCATCAGTTTCGAGAACAAACATCACTGGCTCAGTGTGTCCGACCTGCCAAGATGAGCTCCTGGGCTGGGGGAGGGTGGGGCATTTCTGTGGCAAGCAGCATGACTCAAATCAGATCAAGACACAGAGTACAGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACAGGATGAAACCCATCTTTACTAAAAAATAAAAAAAAAAAATTAGCTGGGCCTGTTGGCGTGTGCCTGTAATCTCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTAAGCCAAGATTGCACTGCTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGACGCAGGGTACACCTGGTGACAGGACGGGTGGGAGAGGCTGCCTAGGGCAGATCTGACCCTGCCTTCCCCACCCCAGGTGAGCCGGGCCAGCTGGTGGGCCGCATCATCCAGAAAGACCCCCTGCGCCGCTTCGATGGCTACCTCAACCAGGGCGCCAACAACAAGAAGATTGCCAAGGATGTCTTCAAGAAGGGGGACCAGGCCTACCTTACTGGTGGGTCCCCAGCCCTTCACAGCCCCTTCCTGAGGGTTGGGGGAGGAGGGGACCTTCTCCCACCTCCAGAGGACACCTTCCCAGGACTCCCCCAGTCCTGGCCCTTGTGGTCAAACAAATCCTTGGGCTCCAGCAAAGCCTCCCTGGCTTGAGCCCTGGTCTCAGAGCTGGCCAGGCCCAGCCCTGCCTCATCCGGCCCCTCCCTAGGTGATGTGCTGGTGATGGACGAGCTGGGCTACCTGTACTTCCGAGACCGCACTGGGGACACGTTCCGCTGGAAAGGTGAGAACGTGTCCACCACCGAGGTGGAAGGCACACTCAGCCGCCTGCTGGACATGGCTGACGTGGCCGTGTATGGTGTCGAGGTGCCAGGTATGTGCAGGCAGGCGCGAGGTGTGGGTAGGGAGGCACCACCCAGGGGCACCACCAGCTACTCAGTGTCTACCCTGCCACCCCCAGGAACCGAGGGCCGGGCCGGAATGGCTGCTGTGGCCAGCCCCACTGGCAACTGTGACCTGGAGCGCTTTGCTCAGGTCTTGGAGAAGGAACTGCCCCTGTATGCGCGCCCCATCTTCCTGCGCCTCCTGCCTGAGCTGCACAAAACAGGTGTGTCCCTCCCCTGCTCCAGCTCTCGGATCCCAGGTCCCTTCCCGTTTCCTTCTGGAGAGACCCGGTTGGCTGTTACTTGACCTCTGCACACAGCCTGGCCGGGCAGTTGGTAAAGTGACCTGCCTGTGTAGAGGTGAGCAGACGGGGCTGGCAGAGAAGACACACATTGTTCCTTAGTAGAACACATATTAGGTGCCAGGCACAGCGCTAAGCCTCGGGATACGGCTGGTGAGCTCTGGATGTTTTGCCTTCTTGGAGTTTTAGAGCAGGAGAGAGGCTGGCCTAGGACAAGGCATTCCAAAGGTAAAGAATCGACCACATAATCTGTCATGAGATTAGAGTTAAACAGATAAAAAGAAAAATGAACCACAGAGCAAGCTGATAGGAAAGCAAAAAGGTGGGACGCTTGGGATGACTAGAAGGCTCCTCTGAGGAGGGGATGGTTCAGCTGAGACCTGAATGAAAGGAAGGACTTTATGGCGGTGGGAGGCACTCTAGGCTGCAGGAATAGACACTGTAAAGCCCCCGAAGCAGGAAGGAGCTTGGGTGCTGGAGGAACGAAAGGGGGCCCCCAAGGCTGGAGCCAAGTGAGAGGGGCAGGCAGTGGCATGAAGTGGGAGAGAAACCAGCAGGGGCCAGAAGCCCAGGGCCTTGCAGGCCAGGGTAAGAGTCGGGACTGTCCCGGGGGCAGTAGGGAGCCACAGAAGCATCTCAGCAAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACATGGCAAAACCCCGTCTCCACTAAACATATAAAAATTAGCTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGAGGCCAAGGTGGGCGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATGCCATCTCCACTAAAAATACAAACATAAAAATAAAAAAATTAGGCTGAGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGATGGATTGCCTGAGCTCAGGAGTTTGAGACCATCCAGGGCAACATGATGAAACCCCGTCTCTACCAAAAATACAAAAAAATTAGCCAGGTATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGCAGCAGGAGGATCGCTTGAGCCCCGGAGGTGGAGGTTGTAGTAAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAAGCACTTGAACCTGGGAGGTGGAGGTTGCAGTAAACCGAGACCGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGTACATACCTGTAATCCAGCGACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGACCCAGGAGCCACAGGTTGCAGTGAGCTGAGATCATGCCACTACACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAGCATCTTAGCAGGTGGGAACCTGGTCAGACTCATGCTCTACAAAGCTCTCTGGCTGCTGTGTACGGAGTGGGAGAGGATTGCAGGCAGCCCTGAGGGAGCTGGGAGACGAGGGAGGGGCTGTTGCAGTTGTCCAGGTGGGAGGTGGGCAGCGGGCCCGCAGTCGCCCACAAGGCAGCACCATCTTTCTATCTGTTGGCCCATTGGTGGCTCTCAAGAGTTCCCTGGTGGGCAGGAAATGCTGAGGCTCATGCCCATACCTGCCCCTGCTTTCCTCAGCCCTTGGTGCCTCTTCTGGGCCCTCCCTGGCTGCTCACCCTTTGGAGCACATTTCCCTGGCCACCTCCCACGTTGTCGTCATATCAGTCCTGCCTTGATGGTGGGCACTCCCTAGCCA
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TTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCCTGAGTAGCTGGAATTACAGGCAAACCCCACCATGCCCGGCTAGTTTTTCTATTTTCAATAGAGATGGGGTTTCACCATGTTGTCCAGGTTGGTCTCGAACTCCTGACTTCAAGTGATCCATCCACCTCGGCCTCCCAAAATGTTGGTATTACAGATGTGAGCCACCATGCCCGGCCCTCATTCATTCATTTTCATATTGACTCCAAATGACCCTGAGTCCAGGCTGCTTGAGATTTATTCTGGCTCAGCTCCTTAGCTCTGTGTCATGGGCGAGTATTCAGCCTCACTGTGCCTAAGTCCCCTTATCTACAAACTGTGCCCATGGCAGCACCCACACATGGGGCTGGCCTGAGGATTATGTTTCATAAAGAACATAAAACTCTGAGTGGGTCCCGGCATGGAGCAGAGGCTTGGGGCGCTGGCTTTGTTAGGCTGTCCCCAAGGAGCCTGACTTATGTTCATCCTCCCATCAGTTTCGAGAACAAACATCACTGGCTCAGTGTGTCCGACCTGCCAAGATGAGCTCCTGGGCTGGGGGAGGGTGGGGCATTTCTGTGGCAAGCAGCATGACTCAAATCAGATCAAGACACAGAGTACAGGCTGGGAGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACAGGATGAAACCCATCTTTACTAAAAAATAAAAAAAAAAAATTAGCTGGGCCTGTTGGCGTGTGCCTGTAATCTCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTAAGCCAAGATTGCACTGCTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGACGCAGGGTACACCTGGTGACAGGACGGGTGGGAGAGGCTGCCTAGGGCAGATCTGACCCTGCCTTCCCCACCCCAGGTGAGCCGGGCCAGCTGGTGGGCCGCATCATCCAGAAAGACCCCCTGCGCCGCTTCGATGGCTACCTCAACCAGGGCGCCAACAACAAGAAGATTGCCAAGGATGTCTTCAAGAAGGGGGACCAGGCCTACCTTACTGGTGGGTCCCCAGCCCTTCACAGCCCCTTCCTGAGGGTTGGGGGAGGAGGGGACCTTCTCCCACCTCCAGAGGACACCTTCCCAGGACTCCCCCAGTCCTGGCCCTTGTGGTCAAACAAATCCTTGGGCTCCAGCAAAGCCTCCCTGGCTTGAGCCCTGGTCTCAGAGCTGGCCAGGCCCAGCCCTGCCTCATCCGGCCCCTCCCTAGGTGATGTGCTGGTGATGGACGAGCTGGGCTACCTGTACTTCCGAGACCGCACTGGGGACACGTTCCGCTGGAAAGGTGAGAACGTGTCCACCACCGAGGTGGAAGGCACACTCAGCCGCCTGCTGGACATGGCTGACGTGGCCGTGTATGGTGTCGAGGTGCCAGGTATGTGCAGGCAGGCGCGAGGTGTGGGTAGGGAGGCACCACCCAGGGGCACCACCAGCTACTCAGTGTCTACCCTGCCACCCCCAGGAACCGAGGGCCGGGCCGGAATGGCTGCTGTGGCCAGCCCCACTGGCAACTGTGACCTGGAGCGCTTTGCTCAGGTCTTGGAGAAGGAACTGCCCCTGTATGCGCGCCCCATCTTCCTGCGCCTCCTGCCTGAGCTGCACAAAACAAGTGTGTCCCTCCCCTGCTCCAGCTCTCGGATCCCAGGTCCCTTCCCGTTTCCTTCTGGAGAGACCCGGTTGGCTGTTACTTGACCTCTGCACACAGCCTGGCCGGGCAGTTGGTAAAGTGACCTGCCTGTGTAGAGGTGAGCAGACGGGGCTGGCAGAGAAGACACACATTGTTCCTTAGTAGAACACATATTAGGTGCCAGGCACAGCGCTAAGCCTCGGGATACGGCTGGTGAGCTCTGGATGTTTTGCCTTCTTGGAGTTTTAGAGCAGGAGAGAGGCTGGCCTAGGACAAGGCATTCCAAAGGTAAAGAATCGACCACATAATCTGTCATGAGATTAGAGTTAAACAGATAAAAAGAAAAATGAACCACAGAGCAAGCTGATAGGAAAGCAAAAAGGTGGGACGCTTGGGATGACTAGAAGGCTCCTCTGAGGAGGGGATGGTTCAGCTGAGACCTGAATGAAAGGAAGGACTTTATGGCGGTGGGAGGCACTCTAGGCTGCAGGAATAGACACTGTAAAGCCCCCGAAGCAGGAAGGAGCTTGGGTGCTGGAGGAACGAAAGGGGGCCCCCAAGGCTGGAGCCAAGTGAGAGGGGCAGGCAGTGGCATGAAGTGGGAGAGAAACCAGCAGGGGCCAGAAGCCCAGGGCCTTGCAGGCCAGGGTAAGAGTCGGGACTGTCCCGGGGGCAGTAGGGAGCCACAGAAGCATCTCAGCAAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACATGGCAAAACCCCGTCTCCACTAAACATATAAAAATTAGCTGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGAGGCCAAGGTGGGCGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATGCCATCTCCACTAAAAATACAAACATAAAAATAAAAAAATTAGGCTGAGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGATGGATTGCCTGAGCTCAGGAGTTTGAGACCATCCAGGGCAACATGATGAAACCCCGTCTCTACCAAAAATACAAAAAAATTAGCCAGGTATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGCAGCAGGAGGATCGCTTGAGCCCCGGAGGTGGAGGTTGTAGTAAGCTGAGATCACGCCACTGCACTCCAGCTTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAAGCACTTGAACCTGGGAGGTGGAGGTTGCAGTAAACCGAGACCGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGTACATACCTGTAATCCAGCGACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGACCCAGGAGCCACAGGTTGCAGTGAGCTGAGATCATGCCACTACACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAGCATCTTAGCAGGTGGGAACCTGGTCAGACTCATGCTCTACAAAGCTCTCTGGCTGCTGTGTACGGAGTGGGAGAGGATTGCAGGCAGCCCTGAGGGAGCTGGGAGACGAGGGAGGGGCTGTTGCAGTTGTCCAGGTGGGAGGTGGGCAGCGGGCCCGCAGTCGCCCACAAGGCAGCACCATCTTTCTATCTGTTGGCCCATTGGTGGCTCTCAAGAGTTCCCTGGTGGGCAGGAAATGCTGAGGCTCATGCCCATACCTGCCCCTGCTTTCCTCAGCCCTTGGTGCCTCTTCTGGGCCCTCCCTGGCTGCTCACCCTTTGGAGCACATTTCCCTGGCCACCTCCCACGTTGTCGTCATATCAGTCCTGCCTTGATGGTGGGCACTCCCTAGCCA
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Task1_train_13288
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A mutation found in GLE1, LOC101929270 (GLE1 RNA export mediator| uncharacterized LOC101929270) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Lethal arthrogryposis-anterior horn cell disease syndrome
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TTTTGGCCTTGTCCCAGTGAATTTTTTCTTATTTCTTTTTTTTGAGACACAGTCTTACTGTTACCCAGGCTGGAGTGCAGTGATGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAATTAGCTGGGACAAACAGGCATGCACCACCATACCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTTGAACTCCTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACACCCGGCCAAATTTTTTCTTCCCGTATAGGATGCTTGGTTACCAAGTAAAGGATTCCAAAGTGGAGCAGCAAGACAACTTTCTAAAACGCATGTCAGGGATGATCCGTCTCTACGCTGCTATCATCCAGCTCCGGTGGCCATATGGAAACCGACAGGAGGTAGGTAAAAGAGGCTTACTGTCAATAATGAGAGGTTAGACCACAGTCCATGTGTATTCCTCCCACAGGAAATGTTGGCCTTCTTTCAGAGAGCCAGTCTAGTTAAAGGATAAACTATATGGCAGTTTCATGGGTATTATGTAGAGGACTGAATGTTGATTATTAGGGAACTTTCTTGGATCACCTGGTACTTTAAAGAGCTGGTTTTGTAACAGAGTCTACCAGAGGAGAGTCTGTTATAAATCAGTCATTAAGGTTAGAAGATTTTCTTACAAGAGGAATGAGCAAGAAATTGTCATCTTAGAACTAGTTGAGACCTTAGAAGCCATCTAGATCACATACCTTACTTCACAGATGGACAGAACAAGCTCAGAAAGCTGCAGCTGGGGTTCAGGGCTTTGACTTGCCAGCCCAATTAATTTCTCAGGGAATACAGATTAGAAGGACAGAGAAATTAATAGTTACGGAGACCTAAAGAGAAAAAATAGAAGTTGATTAAATCCAAGTTTTTATTGTATGCCTGCTGTGTCCCAGGTTCTGTGCTAAAGGTACCAAGAATAATAAATAAAATGTCAATAAGGCTAATTGTTACCCTATGGAATGCCTGAAACTGAAGCTGACACATGCATATTGAAGGGAGCCTATAAAGAATGTGTGGGAACCAATGTATTGAAACATTAAAAAATAGAAGGCGAGGTAGCTTCAGGCCTGATATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCACGAGAATCGCTTTAACCCAGGAGGCAGAGGTGGCAATGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTCCCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAATGTGTGGGAACCAATGTACTGAAACATTTAAATACAGAAGGCTGGGCGAGGTAGATTCATGCCTGTAATCCCAGCCCTTTAGGAAGCCGAGACAGGTGGGTCATTTGACTCCAGGAGTTTGAGACCAGCCTGGGCAACAAGGTGAAACCATGTCTCTAAATAAAATACAAAAAAATTAGCTGAGCACGGTGGCATGTGCATGCCTGTAGTCCCAGCTACTTGGGAGACTGAAGTGGAAGAATCACTTGAGCCCAGGAGGTGAAGGCTGCAGTGATCCATGATCGCACTATAGCACTCCAACCTGGACAACAAAGTGAGACCCTGTCTCAAAAAAATAAAAGAAAAACAGAATTTGTTTAGTTTGTGTTATTTCTGCCCTGTGGCAGGTGCTAGGGCTGGATGATCTGGGGTTCATTTCCACTTGGTAATGGCTGGATGATACACTGGGAGTTTAGATTTCTAAACAAAATGAGATCAATGATAACCAAGCTTCTCTACTCCCAGATTCACCCTCATGGCTTAAATCATGGATGGCGCTGGTTGGCACAGATCTTAAACATGGAGCCCTTGTCAGATGTGACAGCCACCCTCCTCTTTGACTTCCTGGAGGTACGTAACTCAGTTATCACACAAGAGAAGGCCAGTGGTTGAGGTAGCCTTGATCCACTGGGTGACATGAATGGGGAAACAGCATAGCATTTGGGCCTGATAGTAAAACAGCATGAGGTTCCAGTGTCATACATTTTTCCCAAGCTGTAGACCAACCTTGCTTTCACTTTTACTCCATACTATATTTACTTGGCTTCTCTGGATTTTTTTCATTATAAAGAACAGAAAATTGTACATTCTAGCAAAAGTGAAAAGAGGAATTTGTTTTAGGGATATAGAAGGGACTCCCAGGCCGGGTGCGGTGGATCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATGACATGGGGTCAGGAGTTCGAGCCCAGCTGGTCAGTATATTGAAACCCTGTCTGTACTAAAAATACAAATAAAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGTTGGATTACCTGAAGTCATGAGTTCAAGACGAGCCTGTCCAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATCAGCCGGGTGTGATGGTGCACACCTGTCATCCCAGCTACCGAGGAGGCTGAGGCAGGAGAATCGCTTGAACAGGATCTCACTCTGTCAGCCAGGCTGGAGTGCATTAGTGTGATCATAGCTCACTGTAGCCTCAAACTCTTGGGCTCAAGCGATCCTCCCACCTAACCCTGCCAAAGTGTTGAGATTACAGGAGTGAGCCATTGCACTCAGCCAAGAAGACACTTCTTATAGAAGAAAGCCTTGGGGTACATGCCATAACAAATCTGGAACCATTTGATCTATAGTGCCAATAGTTCCTAGTTACCTTAATAGCTCCTGACGTCAGCCAGGTGCAGTGGCTGACAGCCTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCTCTGGAGTTCAAGACCAGCCAGGGCAATATGGTGAAACCCTATATCTACCAAAAAAATACAAAAATTAGTGGTGTGTGCCTGTGGTCCCAGTTACTGAGGAGGCTGAGGTTGGAGGATCACCTGAGCCCAGGGAGGTTGAGGCTACAGTGAGCTGTGATCATGCCAGTGTCCTCTAGCCTGGGCGACAGAGTGAGACCCTATTTCAAAAAAAAATAAAAAGCTCCTGAAGTCACCATACATGAACAATGATCCTGTATCATTTGAGAACACAAGTGGTATTCTGTATACTCTCCTTACTAAGTTTGGGAGGTATACCATACCTTTAGGAAGGCGTCCATTCATTAGAGGAAAAGAAGAGTAGTTCATTAAGACCTGATTGGTTAAATGGAGATATTGCCATATAAAGAGAAATGCTTTAGAAGAAAGTTGGGTGTTTCCATTTATTCCCTTGTTAGCAAGTTCAGTGGCATTGTGGTTGAAATTTTTGATAGGTGTGAAAGATGAAGGGCTGATTGTGCTTTATGAATCTGTCCTGTGAGTGTGAATTTTCATTTTCTGCTCTGACAGTGCCTGTCTTTCCCTCTAGGTGTGTGGGAATGCCCTCATGAAGCAATACCAGGTTCAGTTCTGGAAGATGCTAATTCTCATCAAAGAGGACTACTTTCCCAGGTATCAGGCTTGTTGAGCAGACAGCAGGGGATTAAGTAACTCATAACCAGGCCTCAGATACCCAAGGGTGCTATTACCTGCTGGTTTTGATTCAAGTTAAAAACACCTGTACTAAGTATGACATCTTTCCTACTCCAGTCCCTCTCGTTGATATTTGAATAAATGCTTTTGAACCTTAATGAGAGTCTGTCTTAAATATCATTGCCCAAACAAAAACACAAATTAGGGGCTGAGCACAGTGGCTTATGCCTATAATTATGCCTATAATTGCAGCTCTTTGGGAGGCCACAGGAGGAGGATCACTTGAGCCCAGGTGTTCAAAACCAGCCTGGGCAATATAGCAAGACCCCATCTCTACAAAAAAAAAATTAGCCAGGCATGATGGCATGCATCTATAGTCCCAGCTA
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TTTTGGCCTTGTCCCAGTGAATTTTTTCTTATTTCTTTTTTTTGAGACACAGTCTTACTGTTACCCAGGCTGGAGTGCAGTGATGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAATTAGCTGGGACAAACAGGCATGCACCACCATACCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTTGAACTCCTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACACCCGGCCAAATTTTTTCTTCCCGTATAGGATGCTTGGTTACCAAGTAAAGGATTCCAAAGTGGAGCAGCAAGACAACTTTCTAAAACGCATGTCAGGGATGATCCGTCTCTACGCTGCTATCATCCAGCTCCGGTGGCCATATGGAAACCGACAGGAGGTAGGTAAAAGAGGCTTACTGTCAATAATGAGAGGTTAGACCACAGTCCATGTGTATTCCTCCCACAGGAAATGTTGGCCTTCTTTCAGAGAGCCAGTCTAGTTAAAGGATAAACTATATGGCAGTTTCATGGGTATTATGTAGAGGACTGAATGTTGATTATTAGGGAACTTTCTTGGATCACCTGGTACTTTAAAGAGCTGGTTTTGTAACAGAGTCTACCAGAGGAGAGTCTGTTATAAATCAGTCATTAAGGTTAGAAGATTTTCTTACAAGAGGAATGAGCAAGAAATTGTCATCTTAGAACTAGTTGAGACCTTAGAAGCCATCTAGATCACATACCTTACTTCACAGATGGACAGAACAAGCTCAGAAAGCTGCAGCTGGGGTTCAGGGCTTTGACTTGCCAGCCCAATTAATTTCTCAGGGAATACAGATTAGAAGGACAGAGAAATTAATAGTTACGGAGACCTAAAGAGAAAAAATAGAAGTTGATTAAATCCAAGTTTTTATTGTATGCCTGCTGTGTCCCAGGTTCTGTGCTAAAGGTACCAAGAATAATAAATAAAATGTCAATAAGGCTAATTGTTACCCTATGGAATGCCTGAAACTGAAGCTGACACATGCATATTGAAGGGAGCCTATAAAGAATGTGTGGGAACCAATGTATTGAAACATTAAAAAATAGAAGGCGAGGTAGCTTCAGGCCTGATATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCACGAGAATCGCTTTAACCCAGGAGGCAGAGGTGGCAATGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTCCCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAATGTGTGGGAACCAATGTACTGAAACATTTAAATACAGAAGGCTGGGCGAGGTAGATTCATGCCTGTAATCCCAGCCCTTTAGGAAGCCGAGACAGGTGGGTCATTTGACTCCAGGAGTTTGAGACCAGCCTGGGCAACAAGGTGAAACCATGTCTCTAAATAAAATACAAAAAAATTAGCTGAGCACGGTGGCATGTGCATGCCTGTAGTCCCAGCTACTTGGGAGACTGAAGTGGAAGAATCACTTGAGCCCAGGAGGTGAAGGCTGCAGTGATCCATGATCGCACTATAGCACTCCAACCTGGACAACAAAGTGAGACCCTGTCTCAAAAAAATAAAAGAAAAACAGAATTTGTTTAGTTTGTGTTATTTCTGCCCTGTGGCAGGTGCTAGGGCTGGATGATCTGGGGTTCATTTCCACTTGGTAATGGCTGGATGATACACTGGGAGTTTAGATTTCTAAACAAAATGAGATCAATGATAACCAAGCTTCTCTACTCCCAGATTCACCCTCATGGCTTAAATCATGGATGGCGCTGGTTGGCACAGATCTTAAACATGGAGCCCTTGTCAGATATGACAGCCACCCTCCTCTTTGACTTCCTGGAGGTACGTAACTCAGTTATCACACAAGAGAAGGCCAGTGGTTGAGGTAGCCTTGATCCACTGGGTGACATGAATGGGGAAACAGCATAGCATTTGGGCCTGATAGTAAAACAGCATGAGGTTCCAGTGTCATACATTTTTCCCAAGCTGTAGACCAACCTTGCTTTCACTTTTACTCCATACTATATTTACTTGGCTTCTCTGGATTTTTTTCATTATAAAGAACAGAAAATTGTACATTCTAGCAAAAGTGAAAAGAGGAATTTGTTTTAGGGATATAGAAGGGACTCCCAGGCCGGGTGCGGTGGATCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATGACATGGGGTCAGGAGTTCGAGCCCAGCTGGTCAGTATATTGAAACCCTGTCTGTACTAAAAATACAAATAAAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGTTGGATTACCTGAAGTCATGAGTTCAAGACGAGCCTGTCCAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATCAGCCGGGTGTGATGGTGCACACCTGTCATCCCAGCTACCGAGGAGGCTGAGGCAGGAGAATCGCTTGAACAGGATCTCACTCTGTCAGCCAGGCTGGAGTGCATTAGTGTGATCATAGCTCACTGTAGCCTCAAACTCTTGGGCTCAAGCGATCCTCCCACCTAACCCTGCCAAAGTGTTGAGATTACAGGAGTGAGCCATTGCACTCAGCCAAGAAGACACTTCTTATAGAAGAAAGCCTTGGGGTACATGCCATAACAAATCTGGAACCATTTGATCTATAGTGCCAATAGTTCCTAGTTACCTTAATAGCTCCTGACGTCAGCCAGGTGCAGTGGCTGACAGCCTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCTCTGGAGTTCAAGACCAGCCAGGGCAATATGGTGAAACCCTATATCTACCAAAAAAATACAAAAATTAGTGGTGTGTGCCTGTGGTCCCAGTTACTGAGGAGGCTGAGGTTGGAGGATCACCTGAGCCCAGGGAGGTTGAGGCTACAGTGAGCTGTGATCATGCCAGTGTCCTCTAGCCTGGGCGACAGAGTGAGACCCTATTTCAAAAAAAAATAAAAAGCTCCTGAAGTCACCATACATGAACAATGATCCTGTATCATTTGAGAACACAAGTGGTATTCTGTATACTCTCCTTACTAAGTTTGGGAGGTATACCATACCTTTAGGAAGGCGTCCATTCATTAGAGGAAAAGAAGAGTAGTTCATTAAGACCTGATTGGTTAAATGGAGATATTGCCATATAAAGAGAAATGCTTTAGAAGAAAGTTGGGTGTTTCCATTTATTCCCTTGTTAGCAAGTTCAGTGGCATTGTGGTTGAAATTTTTGATAGGTGTGAAAGATGAAGGGCTGATTGTGCTTTATGAATCTGTCCTGTGAGTGTGAATTTTCATTTTCTGCTCTGACAGTGCCTGTCTTTCCCTCTAGGTGTGTGGGAATGCCCTCATGAAGCAATACCAGGTTCAGTTCTGGAAGATGCTAATTCTCATCAAAGAGGACTACTTTCCCAGGTATCAGGCTTGTTGAGCAGACAGCAGGGGATTAAGTAACTCATAACCAGGCCTCAGATACCCAAGGGTGCTATTACCTGCTGGTTTTGATTCAAGTTAAAAACACCTGTACTAAGTATGACATCTTTCCTACTCCAGTCCCTCTCGTTGATATTTGAATAAATGCTTTTGAACCTTAATGAGAGTCTGTCTTAAATATCATTGCCCAAACAAAAACACAAATTAGGGGCTGAGCACAGTGGCTTATGCCTATAATTATGCCTATAATTGCAGCTCTTTGGGAGGCCACAGGAGGAGGATCACTTGAGCCCAGGTGTTCAAAACCAGCCTGGGCAATATAGCAAGACCCCATCTCTACAAAAAAAAAATTAGCCAGGCATGATGGCATGCATCTATAGTCCCAGCTA
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Task1_train_13289
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Here’s a variant in GLE1, LOC101929270 (GLE1 RNA export mediator| uncharacterized LOC101929270) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; not provided
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ACCAAAAAAATACAAAAATTAGTGGTGTGTGCCTGTGGTCCCAGTTACTGAGGAGGCTGAGGTTGGAGGATCACCTGAGCCCAGGGAGGTTGAGGCTACAGTGAGCTGTGATCATGCCAGTGTCCTCTAGCCTGGGCGACAGAGTGAGACCCTATTTCAAAAAAAAATAAAAAGCTCCTGAAGTCACCATACATGAACAATGATCCTGTATCATTTGAGAACACAAGTGGTATTCTGTATACTCTCCTTACTAAGTTTGGGAGGTATACCATACCTTTAGGAAGGCGTCCATTCATTAGAGGAAAAGAAGAGTAGTTCATTAAGACCTGATTGGTTAAATGGAGATATTGCCATATAAAGAGAAATGCTTTAGAAGAAAGTTGGGTGTTTCCATTTATTCCCTTGTTAGCAAGTTCAGTGGCATTGTGGTTGAAATTTTTGATAGGTGTGAAAGATGAAGGGCTGATTGTGCTTTATGAATCTGTCCTGTGAGTGTGAATTTTCATTTTCTGCTCTGACAGTGCCTGTCTTTCCCTCTAGGTGTGTGGGAATGCCCTCATGAAGCAATACCAGGTTCAGTTCTGGAAGATGCTAATTCTCATCAAAGAGGACTACTTTCCCAGGTATCAGGCTTGTTGAGCAGACAGCAGGGGATTAAGTAACTCATAACCAGGCCTCAGATACCCAAGGGTGCTATTACCTGCTGGTTTTGATTCAAGTTAAAAACACCTGTACTAAGTATGACATCTTTCCTACTCCAGTCCCTCTCGTTGATATTTGAATAAATGCTTTTGAACCTTAATGAGAGTCTGTCTTAAATATCATTGCCCAAACAAAAACACAAATTAGGGGCTGAGCACAGTGGCTTATGCCTATAATTATGCCTATAATTGCAGCTCTTTGGGAGGCCACAGGAGGAGGATCACTTGAGCCCAGGTGTTCAAAACCAGCCTGGGCAATATAGCAAGACCCCATCTCTACAAAAAAAAAATTAGCCAGGCATGATGGCATGCATCTATAGTCCCAGCTACTAGGGAAGCTGAGACAGGAGGATCGCTTGAGCCCAAGAGTTCAAGGCCTCGGTGAGCTATGATCGCACCACCGCGCTGCACTCCAGCCTAGGTGACAGAGTGAGACACCGTTTCCAAAAGATAGGTGTATATCATAGGTGTGATTCATGTGTCTTTCTCTCCCTGTAGAATTGAAGCTATCACAAGCTCAGGACAGATGGGCTCCTTCATACGCCTCAAGCAGTTCTTGGAGGTAAGATGCCCTTAGACCAACATGCCCCACACTGTTGTTGGGCTGGAATGCACCTATGTCTGACAAGTCTTGGACCTTCCGATGCTCTGATTGCACTCTCTTCCTTAGTTCTTCCAAACCCTTCTTTTTGTTCCTAATTCCCTCTTAACCTTTGGAGTAAGGGCTGCCATTTCCTCTTCTTTATATGTATCATTCTCTATACTGCCTGTGAGAAAGCTATGCTGAGATGAGTAAAATATATTTAGTGTATCTCCTCTCATTAATATATATTTTTTTTGCATGTTGGCCAAGGTTATTTTCTTAGTCTCAGGTCTGGGGAATTGGTAAGTGTCATCACTTTTCTCCATGAGATCAAACTGCACTTTCAGTTGGACTCTTCCCCTACTTCCAAGTGCCAAGAGATTGTAAAAGGTTAATTTTGACAAAGAATTTAGAACACTATAGTGGGTTTGCCAAGATAGCCTGCTGACTTTTCAGCTTCTCAAAGCTCGATTGTGAAAATAGTGATTGTGAAAGATGAGGTTAGCCTGTAGGGAGACAAGAGTGGGACAGGAATAATAAGAGCATTTCATTTGTTGTCTGGAGCAGATCATGCAGAAGTGGACATCTTATACAGAACCATCAGTCTTACTGGCTTTTTCCTTTTTGTTCACTGTTCCATAGGGCTGAAATATGGTGTTCCTCAAAGCTTCTTTTAACCATTAAGTGTTGGGAACACTGTTATCAGAAACTCATTCTGTTTTCTTCATCTTTCCCTGACCAGAAATGTTTGCAACACAAGGACATTCCTGTCCCCAAGGGCTTTCTGACTTCCTCCTTCTGGCGCTCCTGATGTCACTCCATCACCCACCATCACCGCTGCTGCAAAGAGGCAATAATAAAGGAACTGAAGACAGCTGTATTTGGGAGAAGTCATGTCAGATTCAGAAATTTGCCATTATGTATTTTTATGTATTTATGCCTTGTGACTAGGAGAGGAGATTTTCATGGGTCACAAAATTCTTGGAGGTCCCTTAGTAGATTTGGTAGTTCCTTAAGAGATCCACGTGATAAAATAAATGGAGTTGGCCTTTCTTGTTTTTTGCAAAAGTGATAAAAGGTCTTTAGCACTTGGTCTCCTCCCTTGTCTCTAGTGTCTTTCAGAAAGTTGGCAATACCTTAACAAATGCACTCTGAGCTGGAGGGAGCCCACCATTTGCACCCACCTACCCACCCTCACCCCTGTTCAGATGAATTTCCAGAAAGAGCTAAGGCTCATAAGGTTCCCTTTTAAGTATTATTTAATAGTTGAGGCCAGATACTTACATGCAAGTCTGGGTTATGGTTGTTTTGCCTTTCTCAGCTTGTGAAGTCATTCTAAAGCTAGAGGAAGTATGTGATATACACATGGACTAAGGCTCAGGTGACACTATGGCTAGATTAACATCTGGGATTAGGACTGGAAACACATGTCATTTTGAACTAAGGGAAACTCTTTGTCATCCTAATTTGGAATTTGGTCCCTGGATGGCTAGGGATCCATGAACCAGGCAGGTACCTTTTTTGTTTTTGTTTTGTTTTGTTTCTTTTCTGTTTGAATTAAGATGGGCTAAGATGGGGCTTGCAACATTAAACATGAGCTGAGCATCCATAAGCATTGAATTGGGATTAAATAAAGATGTTGGGCAGGAACTGAACACTGCTAATATGATGATAAATATGCCTGACTAAAGCCACTACAGAAATCCAGAGATTGGCTGTTAAAATTTGTTTTGTGGAAAGACTAATTCTCTTTGATACTGCAGAGGCAGTGGCCATGGATCTGTTCCTCTGTGCTAAATGTCTTGTGGCAGGGTGTGTTTGTGGGGGAGTGTTCACTGGTACTCTTGAGTGGCCTGAAGTGACCCATTCTATGAATTGTTAATTAAGGTGCCAAAAAAAATTAATAATAAAGCTTGGTTTTTTGAAAAACCCATTGCTGATATATTGGTTCAATATGATCAATTTCCTCTGCCTTGAGCTATGTAAATCATGATAGTATACAAGTCCAGGTATAGAGCGGTATGCATTTATTCCTTTTGGTCTTCTTGACCTACACCTTGGGAATATTACTTCTTTTTCTGTCATTTCCTTTTTTGGAATTATGTACTAATAACTGACCCTATTTTATCTAGCAAGAGATGTGAAAGTGTATTAAAATCTTTGAAAGACACAATAGGCCGTGCTTAGTGGCTCATGCCTGCAGTCCCAACACTTTGGGAGGCTGAGGTGGGAGGATTGTTTAAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCCATGTCTAAAACAAATTTTTTTGGCCAGGCGCGGTGGCTCACGTCTTACCAGCCTGGCCAACATGGCAAAACCCTGTCTCCACTAAAATTACAAAAATTAGCTGGGCATGGTGGTGTGTGCCTGTAATCCCAGCTACCCAAGAGGCGGCTGGGGCAGGAGAATTGCTGGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGATCACTCCAGCCTGGGCGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAATTTTTTTTTAAATTTTTCAGGCATGGTGGCACATGTCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGCAGATCACTTGAGCTTGGGAGGTCGAGGCTGCAGCGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAATAAATAAATAAATAAGGTAGACACAATGGAATGAACACTGGGGACGGAGTCAGGAGACCCCGGCTCAAATCACTTTTAGGTTTTTTGGCCTTGGGAAGGTCCTTC
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ACCAAAAAAATACAAAAATTAGTGGTGTGTGCCTGTGGTCCCAGTTACTGAGGAGGCTGAGGTTGGAGGATCACCTGAGCCCAGGGAGGTTGAGGCTACAGTGAGCTGTGATCATGCCAGTGTCCTCTAGCCTGGGCGACAGAGTGAGACCCTATTTCAAAAAAAAATAAAAAGCTCCTGAAGTCACCATACATGAACAATGATCCTGTATCATTTGAGAACACAAGTGGTATTCTGTATACTCTCCTTACTAAGTTTGGGAGGTATACCATACCTTTAGGAAGGCGTCCATTCATTAGAGGAAAAGAAGAGTAGTTCATTAAGACCTGATTGGTTAAATGGAGATATTGCCATATAAAGAGAAATGCTTTAGAAGAAAGTTGGGTGTTTCCATTTATTCCCTTGTTAGCAAGTTCAGTGGCATTGTGGTTGAAATTTTTGATAGGTGTGAAAGATGAAGGGCTGATTGTGCTTTATGAATCTGTCCTGTGAGTGTGAATTTTCATTTTCTGCTCTGACAGTGCCTGTCTTTCCCTCTAGGTGTGTGGGAATGCCCTCATGAAGCAATACCAGGTTCAGTTCTGGAAGATGCTAATTCTCATCAAAGAGGACTACTTTCCCAGGTATCAGGCTTGTTGAGCAGACAGCAGGGGATTAAGTAACTCATAACCAGGCCTCAGATACCCAAGGGTGCTATTACCTGCTGGTTTTGATTCAAGTTAAAAACACCTGTACTAAGTATGACATCTTTCCTACTCCAGTCCCTCTCGTTGATATTTGAATAAATGCTTTTGAACCTTAATGAGAGTCTGTCTTAAATATCATTGCCCAAACAAAAACACAAATTAGGGGCTGAGCACAGTGGCTTATGCCTATAATTATGCCTATAATTGCAGCTCTTTGGGAGGCCACAGGAGGAGGATCACTTGAGCCCAGGTGTTCAAAACCAGCCTGGGCAATATAGCAAGACCCCATCTCTACAAAAAAAAAATTAGCCAGGCATGATGGCATGCATCTATAGTCCCAGCTACTAGGGAAGCTGAGACAGGAGGATCGCTTGAGCCCAAGAGTTCAAGGCCTCGGTGAGCTATGATCGCACCACCGCGCTGCACTCCAGCCTAGGTGACAGAGTGAGACACCGTTTCCAAAAGATAGGTGTATATCATAGGTGTGATTCATGTGTCTTTCTCTCCCTGTAGAATTGAAGCTATCACAAGCTCAGGACAGATGGGCTCCTTCATACGCCTCAAGCAGTTCTTGGAGGTAAGATGCCCTTAGACCAACATGCCCCACACTGTTGTTGGGCTGGAATGCACCTATGTCTGACAAGTCTTGGACCTTCCGATGCTCTGATTGCACTCTCTTCCTTAGTTCTTCCAAACCCTTCTTTTTGTTCCTAATTCCCTCTTAACCTTTGGAGTAAGGGCTGCCATTTCCTCTTCTTTATATGTATCATTCTCTATACTGCCTGTGAGAAAGCTATGCTGAGATGAGTAAAATATATTTAGTGTATCTCCTCTCATTAATATATATTTTTTTTGCATGTTGGCCAAGGTTATTTTCTTAGTCTCAGGTCTGGGGAATTGGTAAGTGTCATCACTTTTCTCCATGAGATCAAACTGCACTTTCAGTTGGACTCTTCCCCTACTTCCAAGTGCCAAGAGATTGTAAAAGGTTAATTTTGACAAAGAATTTAGAACACTATAGTGGGTTTGCCAAGATAGCCTGCTGACTTTTCAGCTTCTCAAAGCTCGATTGTGAAAATAGTGATTGTGAAAGATGAGGTTAGCCTGTAGGGAGACAAGAGTGGGACAGGAATAATAAGAGCATTTCATTTGTTGTCTGGAGCAGATCATGCAGAAGTGGACATCTTATACAGAACCATCAGTCTTACTGGCTTTTTCCTTTTTGTTCACTGTTCCATAGGGCTGAAATATGGTGTTCCTCAAAGCTTCTTTTAACCATTAAGTGTTGGGAACACTGTTATCAGAAACTCATTCTGTTTTCTTCATCTTTCCCTGACCAGAAATGTTTGCAACACAAGGACACTCCTGTCCCCAAGGGCTTTCTGACTTCCTCCTTCTGGCGCTCCTGATGTCACTCCATCACCCACCATCACCGCTGCTGCAAAGAGGCAATAATAAAGGAACTGAAGACAGCTGTATTTGGGAGAAGTCATGTCAGATTCAGAAATTTGCCATTATGTATTTTTATGTATTTATGCCTTGTGACTAGGAGAGGAGATTTTCATGGGTCACAAAATTCTTGGAGGTCCCTTAGTAGATTTGGTAGTTCCTTAAGAGATCCACGTGATAAAATAAATGGAGTTGGCCTTTCTTGTTTTTTGCAAAAGTGATAAAAGGTCTTTAGCACTTGGTCTCCTCCCTTGTCTCTAGTGTCTTTCAGAAAGTTGGCAATACCTTAACAAATGCACTCTGAGCTGGAGGGAGCCCACCATTTGCACCCACCTACCCACCCTCACCCCTGTTCAGATGAATTTCCAGAAAGAGCTAAGGCTCATAAGGTTCCCTTTTAAGTATTATTTAATAGTTGAGGCCAGATACTTACATGCAAGTCTGGGTTATGGTTGTTTTGCCTTTCTCAGCTTGTGAAGTCATTCTAAAGCTAGAGGAAGTATGTGATATACACATGGACTAAGGCTCAGGTGACACTATGGCTAGATTAACATCTGGGATTAGGACTGGAAACACATGTCATTTTGAACTAAGGGAAACTCTTTGTCATCCTAATTTGGAATTTGGTCCCTGGATGGCTAGGGATCCATGAACCAGGCAGGTACCTTTTTTGTTTTTGTTTTGTTTTGTTTCTTTTCTGTTTGAATTAAGATGGGCTAAGATGGGGCTTGCAACATTAAACATGAGCTGAGCATCCATAAGCATTGAATTGGGATTAAATAAAGATGTTGGGCAGGAACTGAACACTGCTAATATGATGATAAATATGCCTGACTAAAGCCACTACAGAAATCCAGAGATTGGCTGTTAAAATTTGTTTTGTGGAAAGACTAATTCTCTTTGATACTGCAGAGGCAGTGGCCATGGATCTGTTCCTCTGTGCTAAATGTCTTGTGGCAGGGTGTGTTTGTGGGGGAGTGTTCACTGGTACTCTTGAGTGGCCTGAAGTGACCCATTCTATGAATTGTTAATTAAGGTGCCAAAAAAAATTAATAATAAAGCTTGGTTTTTTGAAAAACCCATTGCTGATATATTGGTTCAATATGATCAATTTCCTCTGCCTTGAGCTATGTAAATCATGATAGTATACAAGTCCAGGTATAGAGCGGTATGCATTTATTCCTTTTGGTCTTCTTGACCTACACCTTGGGAATATTACTTCTTTTTCTGTCATTTCCTTTTTTGGAATTATGTACTAATAACTGACCCTATTTTATCTAGCAAGAGATGTGAAAGTGTATTAAAATCTTTGAAAGACACAATAGGCCGTGCTTAGTGGCTCATGCCTGCAGTCCCAACACTTTGGGAGGCTGAGGTGGGAGGATTGTTTAAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCCATGTCTAAAACAAATTTTTTTGGCCAGGCGCGGTGGCTCACGTCTTACCAGCCTGGCCAACATGGCAAAACCCTGTCTCCACTAAAATTACAAAAATTAGCTGGGCATGGTGGTGTGTGCCTGTAATCCCAGCTACCCAAGAGGCGGCTGGGGCAGGAGAATTGCTGGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGATCACTCCAGCCTGGGCGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAATTTTTTTTTAAATTTTTCAGGCATGGTGGCACATGTCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGCAGATCACTTGAGCTTGGGAGGTCGAGGCTGCAGCGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAATAAATAAATAAATAAGGTAGACACAATGGAATGAACACTGGGGACGGAGTCAGGAGACCCCGGCTCAAATCACTTTTAGGTTTTTTGGCCTTGGGAAGGTCCTTC
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Task1_train_13290
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An alteration has been detected in SPTAN1 (spectrin alpha, non-erythrocytic 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Developmental and epileptic encephalopathy, 5
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AAAAAAAATTAAAAACAGAAAAAAGTAGTACATAATCAATGTAAAATAGTCAAACTACTGAATGCCATATTGTTAAAAATAAGTCTCTGCAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAAGCAGGTGGATCACGAGGTCAGGAATTCAGGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAACCAGCCGGGCGTGGTGGCACACTGGCACACACCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCATTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACCGTACTCTAGCCTGGGCGATGGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAACAAGTCTCTACTTTCCTATCCAAGTATGGGCATACTCCCTCTCATCTCCTTGCCATATGACATTATATTTTTCCCTAGACATATATATATATATATTTTTTTTTTGGGGGGGGAAGCGTTTCGCTTTTGTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATCACAGGCATGCACCACCAAGCCCGGCTAATTTTGTATTTTTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGTTGTCTTTTTCTTCTTTTTATTGAGGTAAAAGCCACGTAACATACAATTAACTACTTTAAAATGTGCAATCCAATGACATTTAATGTATTCACGGTGTTGTGCAGCCACCCCTCTCTAGTTTTGGAACATTTTCATTGCCCTAGAATAACATTCCTTAACTAATCACCCCCTCTTCTCTCTTCCCCACCCACTAGGAATCCTTTATCTGCTTTCTATGTCTATGGATTTGCCTCTTCTGGACATGTCATATAAAAGGAATCATACCATATCTGACCTTACACACTCAGTTTTGTGCCCTTGTGGTTGTACAGCTGTGAGAAACTGGATCAAATGTATGCCCAGGCCTAGGGCTTCAAGGGTTAATCCTAAAGAAAGGCTTTTTCTTTTTTTTCTTTTTTTTTTAGAGACAGGGTTGCACCACATTGCCCAAACTGATCTTGAATTCCTGAGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCAACAAAAGCTTTTTCATTTGAAGCTATCAAAGACTTAATTGTAGCTAGAACTTGTTATTCTGGAGGGTGAAAAGATCTTAATTATAAGCCTACTGACTTTTCCTCTGAGAAATTCGGACTTTTAAAAAAATAACAAGAAGTTTTTTAACACTTTGCCCAAAGACCTAGCCTCATTCAGTAGATCAGATTAACCCAAGATAACTTTCTGAGGCAAGAATTATGTCATTCTCTGTTTTCCTGGGCAGAAGATCTCCTTACCAGGTAATATAATAGCTATTTTTCTGGGGTGCTGGTTTCCAGGGACCTCATGTCTTGGATCAATGGAATACGGGGGTTGGTGTCCTCAGATGAGCTAGCCAAGGATGTCACCGGAGCTGAGGCATTGCTGGAGCGACACCAGGTGGGTGGACCTGCCTGCTGAGTAGCAAAGACGTGGCTGCTCTGCAGGGCCCTAGAGGCCTCATTCCCACCCTTTGTGGTGAGTCGGTGGTTGACGTCAGAGTGGGCATCTGCTGCCAGTTACCTAATCCCTTCCCTCCTTTTGGCAGGAACACCGGACAGAAATCGATGCCAGGGCTGGCACTTTCCAGGCATTTGAGCAGTTTGGACAGCAGCTGTTGGCTCACGGACACTATGCCAGCCCTGAGATCAAGCAGAAACTTGATATTCTTGACCAGGAGCGTGCAGACCTGGAGAAGGCCTGGGTTCAGCGCAGGATGATGCTGGATCAGTGCCTTGAACTGCAGGTGTGTGTGCTCCTGGTTTCTGACCAAGTGTTTCCTTGCTGAAGGGCCTCATTTTCTCACCTGCCTCTTGCCCTCTTTAGCTGTTCCATCGGGACTGTGAGCAAGCTGAGAACTGGATGGCTGCCCGGGAGGCCTTCTTGAATACCGAAGACAAAGGAGACTCACTGGACAGCGTAGAGGCTCTGATCAAAAAACATGAAGACTTTGACAAAGCGATTAACGTCCAGGTGAGGCCTCTGGACCATGGAGTTGGAGTCTGGATTTTTCCTGATTGACATCTGTTTCTTGGCTTATATAGTCACTGTTATATCTCCAAGGAATACCTGCGTTGTCTAAGAAAAATATGTACATAAATAATCTTTAAAACTTTATAGATTCTGGTATTTCTGAGATTTTAATAATGGGGGTGCCACAGGAAAAAAAAATATTATCAAAGGGATGGAAAACAAATGTGTGGGTAGGTAAGGGAATAATGAACAAACAACAAGGAAGATGTAAAACTGTTTGATTTATACGTCACTTTGCTGTAAATCTGACAGCATTTTCCTATTATCAGGCTTAATTTTGTTCTGTTCTGATATTCTAACACCTGCCCCACCTGAGTGACCTGGAGACTTCTTGAGTTAAACTCTACTCTAGTAATGAATGAAATCAAGCTTTCTTTTGGCATTTTACACTCTTGCTTCTAAAGTGTCAGTGTATTCTGATCCTGCCACCAGCTAGTTCTCAGTCACCCAAAATAACTATCCTTTTCTCAAGACTGGCAGTCCAGGCAGGGCCCAGCCACAGGCCCACCTTGATCTCATGCCTTTGTTTTCTGACAGGAAGAGAAGATTGCTGCTCTGCAGGCCTTTGCCGACCAGCTCATCGCTGCCGGCCATTATGCCAAGGGAGACATTTCTAGCCGGCGCAATGAGGTCTTGGACAGGTGGGTGTCCTGTGGCACTGACATAGTCACCAGCCCTGAGAGGATGCATCCCCTCATACGAAGGCCCAGGCCTGTTCTGTCTCCCCACTTCCTTCTCCACGGTAAGATATGCTCATGTTGGATCTCATGGTTTCACTCTTTCAGGTGGCGACGTCTGAAAGCCCAGATGATTGAGAAAAGGTCAAAGCTAGGAGAATCTCAAACCCTCCAACAGTTCAGCCGGGATGTGGATGAGATTGAGGCTTGGATCAGTGAAAAATTGCAAACAGCGAGTGATGAGTCGTACAAGGATCCCACCAACATCCAGGTAAGCTGAAGTGACTGGGTGTTGGTCTTGATGTAGCCTTATGTTATTGAGTAGATTTTGTTAAATAAAGCATTTATAAAACAATCTCCTTGCACCCATGGGAAGTCAGTGAGAAATATTTCAGTAAGCCCAGCCAGTGGGAAAGCCCTAGTCAAGTTTCAGAGCCATTTAAAAGTTGCCTTCCTCATTTGTCTCCATTAAAACTATTTCTGCTGTAATAAAAGTCTATAGAATCCCCCTTCTATTACTGTTCCCAAATGCTGAGCTTCCTGGGGGAAGTATGACAAAATGAGTTTCTATTTAATAGCTGATATGTGTGTCCACATCAGTGTACTGAACTCTTGTTCTTTTAATCTGTTTTTGTAGCTTTCCAAGCTGCTGGTAAGTTTTTAATTTTTTTAAGAGTTGTAGTTAAATGAGCTCCAGTATTTGTGTTACTCTGCGTAGATTATTGTTATTATTGTGGTCACACGGTTTGCTGGTGTCTCTTCATCCATCCTTTTCATTTCTAATCATCCATTACACTCCATTCAAGTGTCCCTGTGGGATGTGGCTTTTTCTGTTGTAATTAGCCTGCAACGCCTTACTCCCCCTTCTCTCCCCCAGTTTATCACTTAGGCAAATTCTGTACAGTGTTTGATTTGCGGGGCAGTAATTGACCATTTTCTTTCAAGGAGTGCTTCCTTTTGAAGATGGAACATCAGCTTCAGCTTTTTCTGTGTAGACATTGGCTCAGACTTGCTATGAGCTCATGGTGTTCGGTGGCCTGGGTTGGGGAGGCCAGTCTGGTGTGAGGGTTTTAATGCATACC
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AAAAAAAATTAAAAACAGAAAAAAGTAGTACATAATCAATGTAAAATAGTCAAACTACTGAATGCCATATTGTTAAAAATAAGTCTCTGCAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAAGCAGGTGGATCACGAGGTCAGGAATTCAGGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAACCAGCCGGGCGTGGTGGCACACTGGCACACACCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCATTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACCGTACTCTAGCCTGGGCGATGGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAACAAGTCTCTACTTTCCTATCCAAGTATGGGCATACTCCCTCTCATCTCCTTGCCATATGACATTATATTTTTCCCTAGACATATATATATATATATTTTTTTTTTGGGGGGGGAAGCGTTTCGCTTTTGTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATCACAGGCATGCACCACCAAGCCCGGCTAATTTTGTATTTTTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGTTGTCTTTTTCTTCTTTTTATTGAGGTAAAAGCCACGTAACATACAATTAACTACTTTAAAATGTGCAATCCAATGACATTTAATGTATTCACGGTGTTGTGCAGCCACCCCTCTCTAGTTTTGGAACATTTTCATTGCCCTAGAATAACATTCCTTAACTAATCACCCCCTCTTCTCTCTTCCCCACCCACTAGGAATCCTTTATCTGCTTTCTATGTCTATGGATTTGCCTCTTCTGGACATGTCATATAAAAGGAATCATACCATATCTGACCTTACACACTCAGTTTTGTGCCCTTGTGGTTGTACAGCTGTGAGAAACTGGATCAAATGTATGCCCAGGCCTAGGGCTTCAAGGGTTAATCCTAAAGAAAGGCTTTTTCTTTTTTTTCTTTTTTTTTTAGAGACAGGGTTGCACCACATTGCCCAAACTGATCTTGAATTCCTGAGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCAACAAAAGCTTTTTCATTTGAAGCTATCAAAGACTTAATTGTAGCTAGAACTTGTTATTCTGGAGGGTGAAAAGATCTTAATTATAAGCCTACTGACTTTTCCTCTGAGAAATTCGGACTTTTAAAAAAATAACAAGAAGTTTTTTAACACTTTGCCCAAAGACCTAGCCTCATTCAGTAGATCAGATTAACCCAAGATAACTTTCTGAGGCAAGAATTATGTCATTCTCTGTTTTCCTGGGCAGAAGATCTCCTTACCAGGTAATATAATAGCTATTTTTCTGGGGTGCTGGTTTCCAGGGACCTCATGTCTTGGATCAATGGAATACGGGGGTTGGTGTCCTCAGATGAGCTAGCCAAGGATGTCACCGGAGCTGAGGCATTGCTGGAGCGACACCAGGTGGGTGGACCTGCCTGCTGAGTAGCAAAGACGTGGCTGCTCTGCAGGGCCCTAGAGGCCTCATTCCCACCCTTTGTGGTGAGTCGGTGGTTGACGTCAGAGTGGGCATCTGCTGCCAGTTACCTAATCCCTTCCCTCCTTTTGGCAGGAACACCGGACAGAAATCGATGCCAGGGCTGGCACTTTCCAGGCATTTGAGCAGTTTGGACAGCAGCTGTTGGCTCACGGACACTATGCCAGCCCTGAGATCAAGCAGAAACTTGATATTCTTGACCAGGAGCGTGCAGACCTGGAGAAGGCCTGGGTTCAGCGCAGGATGATGCTGGATCAGTGCCTTGAACTGCCGGTGTGTGTGCTCCTGGTTTCTGACCAAGTGTTTCCTTGCTGAAGGGCCTCATTTTCTCACCTGCCTCTTGCCCTCTTTAGCTGTTCCATCGGGACTGTGAGCAAGCTGAGAACTGGATGGCTGCCCGGGAGGCCTTCTTGAATACCGAAGACAAAGGAGACTCACTGGACAGCGTAGAGGCTCTGATCAAAAAACATGAAGACTTTGACAAAGCGATTAACGTCCAGGTGAGGCCTCTGGACCATGGAGTTGGAGTCTGGATTTTTCCTGATTGACATCTGTTTCTTGGCTTATATAGTCACTGTTATATCTCCAAGGAATACCTGCGTTGTCTAAGAAAAATATGTACATAAATAATCTTTAAAACTTTATAGATTCTGGTATTTCTGAGATTTTAATAATGGGGGTGCCACAGGAAAAAAAAATATTATCAAAGGGATGGAAAACAAATGTGTGGGTAGGTAAGGGAATAATGAACAAACAACAAGGAAGATGTAAAACTGTTTGATTTATACGTCACTTTGCTGTAAATCTGACAGCATTTTCCTATTATCAGGCTTAATTTTGTTCTGTTCTGATATTCTAACACCTGCCCCACCTGAGTGACCTGGAGACTTCTTGAGTTAAACTCTACTCTAGTAATGAATGAAATCAAGCTTTCTTTTGGCATTTTACACTCTTGCTTCTAAAGTGTCAGTGTATTCTGATCCTGCCACCAGCTAGTTCTCAGTCACCCAAAATAACTATCCTTTTCTCAAGACTGGCAGTCCAGGCAGGGCCCAGCCACAGGCCCACCTTGATCTCATGCCTTTGTTTTCTGACAGGAAGAGAAGATTGCTGCTCTGCAGGCCTTTGCCGACCAGCTCATCGCTGCCGGCCATTATGCCAAGGGAGACATTTCTAGCCGGCGCAATGAGGTCTTGGACAGGTGGGTGTCCTGTGGCACTGACATAGTCACCAGCCCTGAGAGGATGCATCCCCTCATACGAAGGCCCAGGCCTGTTCTGTCTCCCCACTTCCTTCTCCACGGTAAGATATGCTCATGTTGGATCTCATGGTTTCACTCTTTCAGGTGGCGACGTCTGAAAGCCCAGATGATTGAGAAAAGGTCAAAGCTAGGAGAATCTCAAACCCTCCAACAGTTCAGCCGGGATGTGGATGAGATTGAGGCTTGGATCAGTGAAAAATTGCAAACAGCGAGTGATGAGTCGTACAAGGATCCCACCAACATCCAGGTAAGCTGAAGTGACTGGGTGTTGGTCTTGATGTAGCCTTATGTTATTGAGTAGATTTTGTTAAATAAAGCATTTATAAAACAATCTCCTTGCACCCATGGGAAGTCAGTGAGAAATATTTCAGTAAGCCCAGCCAGTGGGAAAGCCCTAGTCAAGTTTCAGAGCCATTTAAAAGTTGCCTTCCTCATTTGTCTCCATTAAAACTATTTCTGCTGTAATAAAAGTCTATAGAATCCCCCTTCTATTACTGTTCCCAAATGCTGAGCTTCCTGGGGGAAGTATGACAAAATGAGTTTCTATTTAATAGCTGATATGTGTGTCCACATCAGTGTACTGAACTCTTGTTCTTTTAATCTGTTTTTGTAGCTTTCCAAGCTGCTGGTAAGTTTTTAATTTTTTTAAGAGTTGTAGTTAAATGAGCTCCAGTATTTGTGTTACTCTGCGTAGATTATTGTTATTATTGTGGTCACACGGTTTGCTGGTGTCTCTTCATCCATCCTTTTCATTTCTAATCATCCATTACACTCCATTCAAGTGTCCCTGTGGGATGTGGCTTTTTCTGTTGTAATTAGCCTGCAACGCCTTACTCCCCCTTCTCTCCCCCAGTTTATCACTTAGGCAAATTCTGTACAGTGTTTGATTTGCGGGGCAGTAATTGACCATTTTCTTTCAAGGAGTGCTTCCTTTTGAAGATGGAACATCAGCTTCAGCTTTTTCTGTGTAGACATTGGCTCAGACTTGCTATGAGCTCATGGTGTTCGGTGGCCTGGGTTGGGGAGGCCAGTCTGGTGTGAGGGTTTTAATGCATACC
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Task1_train_13291
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The following genetic variant occurs in SPTAN1 (spectrin alpha, non-erythrocytic 1) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Developmental and epileptic encephalopathy, 5
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CTCCAGTATTTGTGTTACTCTGCGTAGATTATTGTTATTATTGTGGTCACACGGTTTGCTGGTGTCTCTTCATCCATCCTTTTCATTTCTAATCATCCATTACACTCCATTCAAGTGTCCCTGTGGGATGTGGCTTTTTCTGTTGTAATTAGCCTGCAACGCCTTACTCCCCCTTCTCTCCCCCAGTTTATCACTTAGGCAAATTCTGTACAGTGTTTGATTTGCGGGGCAGTAATTGACCATTTTCTTTCAAGGAGTGCTTCCTTTTGAAGATGGAACATCAGCTTCAGCTTTTTCTGTGTAGACATTGGCTCAGACTTGCTATGAGCTCATGGTGTTCGGTGGCCTGGGTTGGGGAGGCCAGTCTGGTGTGAGGGTTTTAATGCATACCCACTCTGGCATCCAGAGGTGCCAGTCAGGAGAGGAACAGCTAGAGAACTGTAGAGAGACGGATGGTCTATTAATACCTCCAAATCTTCAAGGAACACAAATGAGAAGTTAAGATAAAAGCAGACATCACTCAACAGGTAGTGAAAGGAGACTTCAGTCAACATGTAGCTCAAAGTTACTTAAGCGGGTGGAAGAAATGAAGATAGAGAAGAGAGTAAATGGGATTTGAACCAAAGGGTGATCAGAACAAGGAACAGAAGAAGAGGGTAATGGGACTTTTGTCAGGATATCTGAGTGTTTGAGACCCTTTTCCTTCTTGGCTTTGGGATCAGGCGGTGGGAGAACGTAACAAGGACATTTCATGTTAGTGCTGAATTGAGCCAGATGGCTCCATCCTTTGACAGTTGCTGCCTCTGAAATGAAACATTTGATGCAGAATTCCCCAACACTACTGCCTTTTAGTTGTTTTTTTTTTGCCCCCCAAATAACACTCCCCTGAGACCCTGCATTTCTTACCCAGCCAATTGTTTTTCCCAGAATTGTGGCATAGCTGCTATGTCCTTGCAATTGTCTCTTGTAGCATTTCAGTACCTTCTGTTTCTTTATGGATTCATAAAAACCATATCAGGCGCCCAGGATCAGGAGCCCATCCTTCTCCTAGCCCTTTCATTTCCCAGTAAAATAAATTCCTTCCTGCAGTCAAGCCTGGGTTCTGACAGTATCCCAGTGTTTTGATTAATGACAGCTACCTAAAGATAAATCAACAAAGCCAATGTCTGTAGTAGCTGTAGATTTCTCCTCTGTCAACAGAGGGAAAAGACTGACCATCAAATATTATTTTGCTGGTTATTACAATTTATGTTATGAATTTTGCTTAATGGTGATTTCTGCTTTAGATAATGAAATGTCCATATGTATCTCATTCATTACAGCCTGTCTCCAATAAGGAGAAAGCCATGGATGGAAATTGATGTACAAGCAGATTCAAAACTGAAGTTGGCCATTGCCATCTTCTGGAAAGTGTTAGGAAGTGTGTAATTCTAGGGCTTCACTCCCAAATAGCTAGCATAGCTACTGCAAGAATTGATTTTTTGGCCAGGCTTGGTGGCTCATGCTTGTAATCCCAGAACTTTGGGAGGCCAATGTGGCTCGATTGCTTGAGCTCGGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACAAAAAATAGAAAAATTAGCTGGGTGTGATGTCATGCACCCATGGTCCCAGCTATTCGGGAGGCTGAGGTAGGAGGATTGCTTGAGCCGAAGAGGTTGAGGCTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACTGAGCAAGACCCTGTCTCAAAAAAAAGGACTTCCAGTTCATCTACTCCTGAGCTAGTACATTTCCTTCCTCCTTTGCTAACTCCCCAAGAGATGAACCCTAAAATATTTCATACAAACTCCAATTGCCTTCTGTTAAAAACGTTGGCATTTACCCCAGTTCTTTATGTTTGCTGCCACTCCCTGCCTCTGAGAACCCCTTCCCCCTGAAAAGACATAACCTAGCAGGAACTGGTTTGGAAAAAATTTTTTTGGTATTTTTAGAGCAAGCACCAGAAGCACCAGGCTTTTGAAGCAGAGCTGCATGCCAACGCTGACCGGATCCGTGGGGTTATCGACATGGGCAACTCCCTCATTGAACGTGGAGCCTGTGCCGGCAGTGAGGATGCTGTCAAGGTATGGCCCACCAGCTCCCGGTGCCCAGGGAGGAAGATGACCACCGTCACTGTCAACCTGATATAATAACTTGGACATACAGTCTTAAGACACTAAATGGATTATAGAAGACTTTAGGCTGAATTACAGATGGGGAATGCTAGTGAGAATGGCTCCTATGAGTGTTTTCCATTCTCTTCTCTTAGAAGTTCTCAAATTGAGCTTTAGGAGAGGGACGATTCTTCATAGATTTCATCTCTTTTTGGCTCCCTTCTGTTCCCCAGGCCCGCCTGGCTGCCTTAGCTGACCAGTGGCAGTTCTTGGTGCAAAAGTCAGCGGAAAAGAGCCAGAAACTGAAAGAAGCCAACAAGCAGCAGAACTTCAACACAGGGATCAAGGACTTTGACTTCTGGCTGTCTGAGGTAACACTGAGTGGTTCCTCTTCCTACCAGTGGGGGATTTCTAGTCATTTGGCACAGTGGGTCCATCAGTGCCCAAAACCACGAAAAGGCAGGGCTCACCAGACACCCCTTTTGACAGAAACCCTTATTATATATGAGTTGCATGCTGTAAGGGATTTATGAGCAAAGGGAGTGAATGTTAAGAGAGCTGACTTGTAGTGGCACTTGGACTACAGGTCACTCACATCCATAGGGAAGGCAAATAGGAAGAGATTATGGGTAGTTATATGGCATGCAGCTCTAACAAGCCTATGCCAGGTTAGAAACCAAGATAGTAGCATCTGGGAAGCCAGAGTCAGTCATGTATTCTCCATGGAGAATGTTTGGAAAGCACAGACTATAAAAACATAGAGGTTTTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCTCCTGTAATCCCAGCTACTCAGGAGGCTGAGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGGGATCACACCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTTCATCTCAAAAAAAAAAAATTTTTTTTTTTAATAATTGCGTAAGTTTATCATAGAGCCATGCCATAATGTAACCATTCCCATATTGTTGGACATTGAGGTGTTCCCAGCCTTTTGGTGTATATATTTTGCTGTAGTGAATATCTTTGAATATTAATCTTTGTCCACACTGCTGATTCTTTCCTAGGGGGGTTTCCTTGAACTAGGATTGCTGTGCATTTTGCCTTAGCTGTAGTATTTACTATGAATAGACTCTGGAGTCTAGGTTTGACTGACCGAGTGGAGAGAGTGTCTCAGGCCGGGCAGGCTGATTGGGGTGGCTAGGAATCACAGTAACACATTGTGATGGAGAAGTATTCAACTGTCCAAGCAAGGCCCTGGAATAGCCACTGGGCAACCTGAATTTTCCAGAATGCTGAGTATACACCACACAGTAGCCTTTGCTTTTTGTGTTTTCATTGCCAGGTGGAGGCCCTGCTGGCATCCGAAGATTATGGCAAAGACCTAGCTTCTGTGAACAACCTGCTGAAAAAGCATCAACTGCTGGAAGCAGATATATCTGCCCATGAGGTAAGCAAAGGGAGGCGGGCCAGGCCCGAGTGCCTGGGACACAGCTCTGCCTGACTCCTAAGGAAAACAAGCGTGTTTGAGAAAAGAGAGTGACTTCTTTCACTTAAAGCAGCCATTCTCAAAGGTTGTGGCCTCAGGATCATTATACACTTGGCAGTTATTGAGGGCTCTTGAGAGATTTTTATTATGTAGGTTTTATCAATGCTCACCATTATTAAAAATTACATAAATTTTAAGGCCAGGTGCAGTGGCTTACGGCTGTAATCCCAGCACTTTGGGAGGCCCAGACAGGCAGATCTCCTGAGGTCAGGAGTT
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CTCCAGTATTTGTGTTACTCTGCGTAGATTATTGTTATTATTGTGGTCACACGGTTTGCTGGTGTCTCTTCATCCATCCTTTTCATTTCTAATCATCCATTACACTCCATTCAAGTGTCCCTGTGGGATGTGGCTTTTTCTGTTGTAATTAGCCTGCAACGCCTTACTCCCCCTTCTCTCCCCCAGTTTATCACTTAGGCAAATTCTGTACAGTGTTTGATTTGCGGGGCAGTAATTGACCATTTTCTTTCAAGGAGTGCTTCCTTTTGAAGATGGAACATCAGCTTCAGCTTTTTCTGTGTAGACATTGGCTCAGACTTGCTATGAGCTCATGGTGTTCGGTGGCCTGGGTTGGGGAGGCCAGTCTGGTGTGAGGGTTTTAATGCATACCCACTCTGGCATCCAGAGGTGCCAGTCAGGAGAGGAACAGCTAGAGAACTGTAGAGAGACGGATGGTCTATTAATACCTCCAAATCTTCAAGGAACACAAATGAGAAGTTAAGATAAAAGCAGACATCACTCAACAGGTAGTGAAAGGAGACTTCAGTCAACATGTAGCTCAAAGTTACTTAAGCGGGTGGAAGAAATGAAGATAGAGAAGAGAGTAAATGGGATTTGAACCAAAGGGTGATCAGAACAAGGAACAGAAGAAGAGGGTAATGGGACTTTTGTCAGGATATCTGAGTGTTTGAGACCCTTTTCCTTCTTGGCTTTGGGATCAGGCGGTGGGAGAACGTAACAAGGACATTTCATGTTAGTGCTGAATTGAGCCAGATGGCTCCATCCTTTGACAGTTGCTGCCTCTGAAATGAAACATTTGATGCAGAATTCCCCAACACTACTGCCTTTTAGTTGTTTTTTTTTTGCCCCCCAAATAACACTCCCCTGAGACCCTGCATTTCTTACCCAGCCAATTGTTTTTCCCAGAATTGTGGCATAGCTGCTATGTCCTTGCAATTGTCTCTTGTAGCATTTCAGTACCTTCTGTTTCTTTATGGATTCATAAAAACCATATCAGGCGCCCAGGATCAGGAGCCCATCCTTCTCCTAGCCCTTTCATTTCCCAGTAAAATAAATTCCTTCCTGCAGTCAAGCCTGGGTTCTGACAGTATCCCAGTGTTTTGATTAATGACAGCTACCTAAAGATAAATCAACAAAGCCAATGTCTGTAGTAGCTGTAGATTTCTCCTCTGTCAACAGAGGGAAAAGACTGACCATCAAATATTATTTTGCTGGTTATTACAATTTATGTTATGAATTTTGCTTAATGGTGATTTCTGCTTTAGATAATGAAATGTCCATATGTATCTCATTCATTACAGCCTGTCTCCAATAAGGAGAAAGCCATGGATGGAAATTGATGTACAAGCAGATTCAAAACTGAAGTTGGCCATTGCCATCTTCTGGAAAGTGTTAGGAAGTGTGTAATTCTAGGGCTTCACTCCCAAATAGCTAGCATAGCTACTGCAAGAATTGATTTTTTGGCCAGGCTTGGTGGCTCATGCTTGTAATCCCAGAACTTTGGGAGGCCAATGTGGCTCGATTGCTTGAGCTCGGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACAAAAAATAGAAAAATTAGCTGGGTGTGATGTCATGCACCCATGGTCCCAGCTATTCGGGAGGCTGAGGTAGGAGGATTGCTTGAGCCGAAGAGGTTGAGGCTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACTGAGCAAGACCCTGTCTCAAAAAAAAGGACTTCCAGTTCATCTACTCCTGAGCTAGTACATTTCCTTCCTCCTTTGCTAACTCCCCAAGAGATGAACCCTAAAATATTTCATACAAACTCCAATTGCCTTCTGTTAAAAACGTTGGCATTTACCCCAGTTCTTTATGTTTGCTGCCACTCCCTGCCTCTGAGAACCCCTTCCCCCTGAAAAGACATAACCTAGCAGGAACTGGTTTGGAAAAAATTTTTTTGGTATTTTTAGAGCAAGCACCAGAAGCACCAGGCTTTTGAAGCAGAGCTGTATGCCAACGCTGACCGGATCCGTGGGGTTATCGACATGGGCAACTCCCTCATTGAACGTGGAGCCTGTGCCGGCAGTGAGGATGCTGTCAAGGTATGGCCCACCAGCTCCCGGTGCCCAGGGAGGAAGATGACCACCGTCACTGTCAACCTGATATAATAACTTGGACATACAGTCTTAAGACACTAAATGGATTATAGAAGACTTTAGGCTGAATTACAGATGGGGAATGCTAGTGAGAATGGCTCCTATGAGTGTTTTCCATTCTCTTCTCTTAGAAGTTCTCAAATTGAGCTTTAGGAGAGGGACGATTCTTCATAGATTTCATCTCTTTTTGGCTCCCTTCTGTTCCCCAGGCCCGCCTGGCTGCCTTAGCTGACCAGTGGCAGTTCTTGGTGCAAAAGTCAGCGGAAAAGAGCCAGAAACTGAAAGAAGCCAACAAGCAGCAGAACTTCAACACAGGGATCAAGGACTTTGACTTCTGGCTGTCTGAGGTAACACTGAGTGGTTCCTCTTCCTACCAGTGGGGGATTTCTAGTCATTTGGCACAGTGGGTCCATCAGTGCCCAAAACCACGAAAAGGCAGGGCTCACCAGACACCCCTTTTGACAGAAACCCTTATTATATATGAGTTGCATGCTGTAAGGGATTTATGAGCAAAGGGAGTGAATGTTAAGAGAGCTGACTTGTAGTGGCACTTGGACTACAGGTCACTCACATCCATAGGGAAGGCAAATAGGAAGAGATTATGGGTAGTTATATGGCATGCAGCTCTAACAAGCCTATGCCAGGTTAGAAACCAAGATAGTAGCATCTGGGAAGCCAGAGTCAGTCATGTATTCTCCATGGAGAATGTTTGGAAAGCACAGACTATAAAAACATAGAGGTTTTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCTCCTGTAATCCCAGCTACTCAGGAGGCTGAGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGGGATCACACCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTTCATCTCAAAAAAAAAAAATTTTTTTTTTTAATAATTGCGTAAGTTTATCATAGAGCCATGCCATAATGTAACCATTCCCATATTGTTGGACATTGAGGTGTTCCCAGCCTTTTGGTGTATATATTTTGCTGTAGTGAATATCTTTGAATATTAATCTTTGTCCACACTGCTGATTCTTTCCTAGGGGGGTTTCCTTGAACTAGGATTGCTGTGCATTTTGCCTTAGCTGTAGTATTTACTATGAATAGACTCTGGAGTCTAGGTTTGACTGACCGAGTGGAGAGAGTGTCTCAGGCCGGGCAGGCTGATTGGGGTGGCTAGGAATCACAGTAACACATTGTGATGGAGAAGTATTCAACTGTCCAAGCAAGGCCCTGGAATAGCCACTGGGCAACCTGAATTTTCCAGAATGCTGAGTATACACCACACAGTAGCCTTTGCTTTTTGTGTTTTCATTGCCAGGTGGAGGCCCTGCTGGCATCCGAAGATTATGGCAAAGACCTAGCTTCTGTGAACAACCTGCTGAAAAAGCATCAACTGCTGGAAGCAGATATATCTGCCCATGAGGTAAGCAAAGGGAGGCGGGCCAGGCCCGAGTGCCTGGGACACAGCTCTGCCTGACTCCTAAGGAAAACAAGCGTGTTTGAGAAAAGAGAGTGACTTCTTTCACTTAAAGCAGCCATTCTCAAAGGTTGTGGCCTCAGGATCATTATACACTTGGCAGTTATTGAGGGCTCTTGAGAGATTTTTATTATGTAGGTTTTATCAATGCTCACCATTATTAAAAATTACATAAATTTTAAGGCCAGGTGCAGTGGCTTACGGCTGTAATCCCAGCACTTTGGGAGGCCCAGACAGGCAGATCTCCTGAGGTCAGGAGTT
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Task1_train_13292
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This sequence variant lies in SPTAN1 (spectrin alpha, non-erythrocytic 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Self-limited epilepsy with centrotemporal spikes
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ATTGTGGTCACACGGTTTGCTGGTGTCTCTTCATCCATCCTTTTCATTTCTAATCATCCATTACACTCCATTCAAGTGTCCCTGTGGGATGTGGCTTTTTCTGTTGTAATTAGCCTGCAACGCCTTACTCCCCCTTCTCTCCCCCAGTTTATCACTTAGGCAAATTCTGTACAGTGTTTGATTTGCGGGGCAGTAATTGACCATTTTCTTTCAAGGAGTGCTTCCTTTTGAAGATGGAACATCAGCTTCAGCTTTTTCTGTGTAGACATTGGCTCAGACTTGCTATGAGCTCATGGTGTTCGGTGGCCTGGGTTGGGGAGGCCAGTCTGGTGTGAGGGTTTTAATGCATACCCACTCTGGCATCCAGAGGTGCCAGTCAGGAGAGGAACAGCTAGAGAACTGTAGAGAGACGGATGGTCTATTAATACCTCCAAATCTTCAAGGAACACAAATGAGAAGTTAAGATAAAAGCAGACATCACTCAACAGGTAGTGAAAGGAGACTTCAGTCAACATGTAGCTCAAAGTTACTTAAGCGGGTGGAAGAAATGAAGATAGAGAAGAGAGTAAATGGGATTTGAACCAAAGGGTGATCAGAACAAGGAACAGAAGAAGAGGGTAATGGGACTTTTGTCAGGATATCTGAGTGTTTGAGACCCTTTTCCTTCTTGGCTTTGGGATCAGGCGGTGGGAGAACGTAACAAGGACATTTCATGTTAGTGCTGAATTGAGCCAGATGGCTCCATCCTTTGACAGTTGCTGCCTCTGAAATGAAACATTTGATGCAGAATTCCCCAACACTACTGCCTTTTAGTTGTTTTTTTTTTGCCCCCCAAATAACACTCCCCTGAGACCCTGCATTTCTTACCCAGCCAATTGTTTTTCCCAGAATTGTGGCATAGCTGCTATGTCCTTGCAATTGTCTCTTGTAGCATTTCAGTACCTTCTGTTTCTTTATGGATTCATAAAAACCATATCAGGCGCCCAGGATCAGGAGCCCATCCTTCTCCTAGCCCTTTCATTTCCCAGTAAAATAAATTCCTTCCTGCAGTCAAGCCTGGGTTCTGACAGTATCCCAGTGTTTTGATTAATGACAGCTACCTAAAGATAAATCAACAAAGCCAATGTCTGTAGTAGCTGTAGATTTCTCCTCTGTCAACAGAGGGAAAAGACTGACCATCAAATATTATTTTGCTGGTTATTACAATTTATGTTATGAATTTTGCTTAATGGTGATTTCTGCTTTAGATAATGAAATGTCCATATGTATCTCATTCATTACAGCCTGTCTCCAATAAGGAGAAAGCCATGGATGGAAATTGATGTACAAGCAGATTCAAAACTGAAGTTGGCCATTGCCATCTTCTGGAAAGTGTTAGGAAGTGTGTAATTCTAGGGCTTCACTCCCAAATAGCTAGCATAGCTACTGCAAGAATTGATTTTTTGGCCAGGCTTGGTGGCTCATGCTTGTAATCCCAGAACTTTGGGAGGCCAATGTGGCTCGATTGCTTGAGCTCGGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACAAAAAATAGAAAAATTAGCTGGGTGTGATGTCATGCACCCATGGTCCCAGCTATTCGGGAGGCTGAGGTAGGAGGATTGCTTGAGCCGAAGAGGTTGAGGCTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACTGAGCAAGACCCTGTCTCAAAAAAAAGGACTTCCAGTTCATCTACTCCTGAGCTAGTACATTTCCTTCCTCCTTTGCTAACTCCCCAAGAGATGAACCCTAAAATATTTCATACAAACTCCAATTGCCTTCTGTTAAAAACGTTGGCATTTACCCCAGTTCTTTATGTTTGCTGCCACTCCCTGCCTCTGAGAACCCCTTCCCCCTGAAAAGACATAACCTAGCAGGAACTGGTTTGGAAAAAATTTTTTTGGTATTTTTAGAGCAAGCACCAGAAGCACCAGGCTTTTGAAGCAGAGCTGCATGCCAACGCTGACCGGATCCGTGGGGTTATCGACATGGGCAACTCCCTCATTGAACGTGGAGCCTGTGCCGGCAGTGAGGATGCTGTCAAGGTATGGCCCACCAGCTCCCGGTGCCCAGGGAGGAAGATGACCACCGTCACTGTCAACCTGATATAATAACTTGGACATACAGTCTTAAGACACTAAATGGATTATAGAAGACTTTAGGCTGAATTACAGATGGGGAATGCTAGTGAGAATGGCTCCTATGAGTGTTTTCCATTCTCTTCTCTTAGAAGTTCTCAAATTGAGCTTTAGGAGAGGGACGATTCTTCATAGATTTCATCTCTTTTTGGCTCCCTTCTGTTCCCCAGGCCCGCCTGGCTGCCTTAGCTGACCAGTGGCAGTTCTTGGTGCAAAAGTCAGCGGAAAAGAGCCAGAAACTGAAAGAAGCCAACAAGCAGCAGAACTTCAACACAGGGATCAAGGACTTTGACTTCTGGCTGTCTGAGGTAACACTGAGTGGTTCCTCTTCCTACCAGTGGGGGATTTCTAGTCATTTGGCACAGTGGGTCCATCAGTGCCCAAAACCACGAAAAGGCAGGGCTCACCAGACACCCCTTTTGACAGAAACCCTTATTATATATGAGTTGCATGCTGTAAGGGATTTATGAGCAAAGGGAGTGAATGTTAAGAGAGCTGACTTGTAGTGGCACTTGGACTACAGGTCACTCACATCCATAGGGAAGGCAAATAGGAAGAGATTATGGGTAGTTATATGGCATGCAGCTCTAACAAGCCTATGCCAGGTTAGAAACCAAGATAGTAGCATCTGGGAAGCCAGAGTCAGTCATGTATTCTCCATGGAGAATGTTTGGAAAGCACAGACTATAAAAACATAGAGGTTTTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCTCCTGTAATCCCAGCTACTCAGGAGGCTGAGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGGGATCACACCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTTCATCTCAAAAAAAAAAAATTTTTTTTTTTAATAATTGCGTAAGTTTATCATAGAGCCATGCCATAATGTAACCATTCCCATATTGTTGGACATTGAGGTGTTCCCAGCCTTTTGGTGTATATATTTTGCTGTAGTGAATATCTTTGAATATTAATCTTTGTCCACACTGCTGATTCTTTCCTAGGGGGGTTTCCTTGAACTAGGATTGCTGTGCATTTTGCCTTAGCTGTAGTATTTACTATGAATAGACTCTGGAGTCTAGGTTTGACTGACCGAGTGGAGAGAGTGTCTCAGGCCGGGCAGGCTGATTGGGGTGGCTAGGAATCACAGTAACACATTGTGATGGAGAAGTATTCAACTGTCCAAGCAAGGCCCTGGAATAGCCACTGGGCAACCTGAATTTTCCAGAATGCTGAGTATACACCACACAGTAGCCTTTGCTTTTTGTGTTTTCATTGCCAGGTGGAGGCCCTGCTGGCATCCGAAGATTATGGCAAAGACCTAGCTTCTGTGAACAACCTGCTGAAAAAGCATCAACTGCTGGAAGCAGATATATCTGCCCATGAGGTAAGCAAAGGGAGGCGGGCCAGGCCCGAGTGCCTGGGACACAGCTCTGCCTGACTCCTAAGGAAAACAAGCGTGTTTGAGAAAAGAGAGTGACTTCTTTCACTTAAAGCAGCCATTCTCAAAGGTTGTGGCCTCAGGATCATTATACACTTGGCAGTTATTGAGGGCTCTTGAGAGATTTTTATTATGTAGGTTTTATCAATGCTCACCATTATTAAAAATTACATAAATTTTAAGGCCAGGTGCAGTGGCTTACGGCTGTAATCCCAGCACTTTGGGAGGCCCAGACAGGCAGATCTCCTGAGGTCAGGAGTTCGAGACCACTCCGGCCAACGTGGTGAGACCTCCGTCTCT
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ATTGTGGTCACACGGTTTGCTGGTGTCTCTTCATCCATCCTTTTCATTTCTAATCATCCATTACACTCCATTCAAGTGTCCCTGTGGGATGTGGCTTTTTCTGTTGTAATTAGCCTGCAACGCCTTACTCCCCCTTCTCTCCCCCAGTTTATCACTTAGGCAAATTCTGTACAGTGTTTGATTTGCGGGGCAGTAATTGACCATTTTCTTTCAAGGAGTGCTTCCTTTTGAAGATGGAACATCAGCTTCAGCTTTTTCTGTGTAGACATTGGCTCAGACTTGCTATGAGCTCATGGTGTTCGGTGGCCTGGGTTGGGGAGGCCAGTCTGGTGTGAGGGTTTTAATGCATACCCACTCTGGCATCCAGAGGTGCCAGTCAGGAGAGGAACAGCTAGAGAACTGTAGAGAGACGGATGGTCTATTAATACCTCCAAATCTTCAAGGAACACAAATGAGAAGTTAAGATAAAAGCAGACATCACTCAACAGGTAGTGAAAGGAGACTTCAGTCAACATGTAGCTCAAAGTTACTTAAGCGGGTGGAAGAAATGAAGATAGAGAAGAGAGTAAATGGGATTTGAACCAAAGGGTGATCAGAACAAGGAACAGAAGAAGAGGGTAATGGGACTTTTGTCAGGATATCTGAGTGTTTGAGACCCTTTTCCTTCTTGGCTTTGGGATCAGGCGGTGGGAGAACGTAACAAGGACATTTCATGTTAGTGCTGAATTGAGCCAGATGGCTCCATCCTTTGACAGTTGCTGCCTCTGAAATGAAACATTTGATGCAGAATTCCCCAACACTACTGCCTTTTAGTTGTTTTTTTTTTGCCCCCCAAATAACACTCCCCTGAGACCCTGCATTTCTTACCCAGCCAATTGTTTTTCCCAGAATTGTGGCATAGCTGCTATGTCCTTGCAATTGTCTCTTGTAGCATTTCAGTACCTTCTGTTTCTTTATGGATTCATAAAAACCATATCAGGCGCCCAGGATCAGGAGCCCATCCTTCTCCTAGCCCTTTCATTTCCCAGTAAAATAAATTCCTTCCTGCAGTCAAGCCTGGGTTCTGACAGTATCCCAGTGTTTTGATTAATGACAGCTACCTAAAGATAAATCAACAAAGCCAATGTCTGTAGTAGCTGTAGATTTCTCCTCTGTCAACAGAGGGAAAAGACTGACCATCAAATATTATTTTGCTGGTTATTACAATTTATGTTATGAATTTTGCTTAATGGTGATTTCTGCTTTAGATAATGAAATGTCCATATGTATCTCATTCATTACAGCCTGTCTCCAATAAGGAGAAAGCCATGGATGGAAATTGATGTACAAGCAGATTCAAAACTGAAGTTGGCCATTGCCATCTTCTGGAAAGTGTTAGGAAGTGTGTAATTCTAGGGCTTCACTCCCAAATAGCTAGCATAGCTACTGCAAGAATTGATTTTTTGGCCAGGCTTGGTGGCTCATGCTTGTAATCCCAGAACTTTGGGAGGCCAATGTGGCTCGATTGCTTGAGCTCGGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACAAAAAATAGAAAAATTAGCTGGGTGTGATGTCATGCACCCATGGTCCCAGCTATTCGGGAGGCTGAGGTAGGAGGATTGCTTGAGCCGAAGAGGTTGAGGCTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACTGAGCAAGACCCTGTCTCAAAAAAAAGGACTTCCAGTTCATCTACTCCTGAGCTAGTACATTTCCTTCCTCCTTTGCTAACTCCCCAAGAGATGAACCCTAAAATATTTCATACAAACTCCAATTGCCTTCTGTTAAAAACGTTGGCATTTACCCCAGTTCTTTATGTTTGCTGCCACTCCCTGCCTCTGAGAACCCCTTCCCCCTGAAAAGACATAACCTAGCAGGAACTGGTTTGGAAAAAATTTTTTTGGTATTTTTAGAGCAAGCACCAGAAGCACCAGGCTTTTGAAGCAGAGCTGCATGCCAACGCTGACCGGATCCGTGGGGTTATCGACATGAGCAACTCCCTCATTGAACGTGGAGCCTGTGCCGGCAGTGAGGATGCTGTCAAGGTATGGCCCACCAGCTCCCGGTGCCCAGGGAGGAAGATGACCACCGTCACTGTCAACCTGATATAATAACTTGGACATACAGTCTTAAGACACTAAATGGATTATAGAAGACTTTAGGCTGAATTACAGATGGGGAATGCTAGTGAGAATGGCTCCTATGAGTGTTTTCCATTCTCTTCTCTTAGAAGTTCTCAAATTGAGCTTTAGGAGAGGGACGATTCTTCATAGATTTCATCTCTTTTTGGCTCCCTTCTGTTCCCCAGGCCCGCCTGGCTGCCTTAGCTGACCAGTGGCAGTTCTTGGTGCAAAAGTCAGCGGAAAAGAGCCAGAAACTGAAAGAAGCCAACAAGCAGCAGAACTTCAACACAGGGATCAAGGACTTTGACTTCTGGCTGTCTGAGGTAACACTGAGTGGTTCCTCTTCCTACCAGTGGGGGATTTCTAGTCATTTGGCACAGTGGGTCCATCAGTGCCCAAAACCACGAAAAGGCAGGGCTCACCAGACACCCCTTTTGACAGAAACCCTTATTATATATGAGTTGCATGCTGTAAGGGATTTATGAGCAAAGGGAGTGAATGTTAAGAGAGCTGACTTGTAGTGGCACTTGGACTACAGGTCACTCACATCCATAGGGAAGGCAAATAGGAAGAGATTATGGGTAGTTATATGGCATGCAGCTCTAACAAGCCTATGCCAGGTTAGAAACCAAGATAGTAGCATCTGGGAAGCCAGAGTCAGTCATGTATTCTCCATGGAGAATGTTTGGAAAGCACAGACTATAAAAACATAGAGGTTTTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCTCCTGTAATCCCAGCTACTCAGGAGGCTGAGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGGGATCACACCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTTCATCTCAAAAAAAAAAAATTTTTTTTTTTAATAATTGCGTAAGTTTATCATAGAGCCATGCCATAATGTAACCATTCCCATATTGTTGGACATTGAGGTGTTCCCAGCCTTTTGGTGTATATATTTTGCTGTAGTGAATATCTTTGAATATTAATCTTTGTCCACACTGCTGATTCTTTCCTAGGGGGGTTTCCTTGAACTAGGATTGCTGTGCATTTTGCCTTAGCTGTAGTATTTACTATGAATAGACTCTGGAGTCTAGGTTTGACTGACCGAGTGGAGAGAGTGTCTCAGGCCGGGCAGGCTGATTGGGGTGGCTAGGAATCACAGTAACACATTGTGATGGAGAAGTATTCAACTGTCCAAGCAAGGCCCTGGAATAGCCACTGGGCAACCTGAATTTTCCAGAATGCTGAGTATACACCACACAGTAGCCTTTGCTTTTTGTGTTTTCATTGCCAGGTGGAGGCCCTGCTGGCATCCGAAGATTATGGCAAAGACCTAGCTTCTGTGAACAACCTGCTGAAAAAGCATCAACTGCTGGAAGCAGATATATCTGCCCATGAGGTAAGCAAAGGGAGGCGGGCCAGGCCCGAGTGCCTGGGACACAGCTCTGCCTGACTCCTAAGGAAAACAAGCGTGTTTGAGAAAAGAGAGTGACTTCTTTCACTTAAAGCAGCCATTCTCAAAGGTTGTGGCCTCAGGATCATTATACACTTGGCAGTTATTGAGGGCTCTTGAGAGATTTTTATTATGTAGGTTTTATCAATGCTCACCATTATTAAAAATTACATAAATTTTAAGGCCAGGTGCAGTGGCTTACGGCTGTAATCCCAGCACTTTGGGAGGCCCAGACAGGCAGATCTCCTGAGGTCAGGAGTTCGAGACCACTCCGGCCAACGTGGTGAGACCTCCGTCTCT
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Task1_train_13293
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This mutation occurs in SPTAN1 (spectrin alpha, non-erythrocytic 1) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Self-limited epilepsy with centrotemporal spikes
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CATTAGGTAAAGATGGCCAGTTGCAGTTAGGTTTGGTTTCCTTAAAAGGAATGTGAGGTTGCCAGGCATTGCTCTCTCTGAGAGAAGGTTCATTCTGAGCTCTCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCTCTCTCTTTTCTTTCTTTCTTCATGGAATCTCTCTCTCGCCCAGGCTGGAGTGCAGTGGTGCGATATTGGCTCACTGCAACCTCCACCTCCCAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCAAATAGCTGTACTACAGATGTGTGCCACCACATTTGGCTAATTTTTGTTTATTTTTAATTATCTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGACGTGGTCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATCCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCTGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCCTAGTTTTTATATTTTTAGTAGAGACAGTGTTTTGCCTTGTTGGCCAGGCCGGTCTGGAACTCCTGATCTCCAGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCCCGGCCGAGGGCTCTTCACTTTAAAGAAAGTCTTTGGGGCTGGGTGTGGTGACTTACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATTGCTTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGATTCTGGGATGCGGAGGTTGCAGTGACCCGAGATCAGGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCCTCTGAAAAAAATTACTTGGGCATGGTGGCCTACACCTGCTCAAAGTCCAGCATGGGCAATATATAGCAAGACCTTGTCTTAAAAATAAGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCAAGACAGGCAGATCACTTGAGCCTAGGAATTCAAGACCAGCCTGGTCAATGCAGTGAAACATCGCCTCTACTAAAAATACAAAAATTAGGCAGGTGTGGTGATGGGCACCTGTTAGTTCCAGCTACTCAGGAGATTGAGGCAGGAGAATCACTTGAACCCGGGAGGTTGCAGTGAGCGTGATTGCGCCACTGCACTCTAGCCTAGGCGACAGTGAGACTCCATCTCAAAAAAATTTATAAAAATCTTTGGCCACTGCTTCCTGGAGTCCTCGCCGTACTTGTCCTTGGCGTGCACTGCCCTCTGGCAGGTCTACCAGCTGCTTTGGAACCCTCACATTGAAAGTCTCTCCCTCTATTGAGGTGGTTGGGATTTCTTCAGCTTCACCCCATCCCACTATTCCTATTCTAGAATGTTCTTGTTTTACGAGGTCTCAGGCCAGGCCTGGAGCAGGAACCAGAGGGCAGTAAGTGGCTCCTGGGCTGGTGACTGAGCTGAGGGCCCCCGTCTGAGCATCTGTGCTCCCCACCCCTGCAGCGCAAGCACCAGGAAATCCGAGCCATGAGAAGTCAGCTCAAAAAGATCGAGGACCTGGGGGCCGCCATGGAGGAGGCCCTCATCCTGGACAACAAGTACACGGAGCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCTCGGCTTTGTGCTGCAGACACTTTGACAAGGACAAGTCTGGCAGGCTGAACCATCAGGAGTTCAAATCTTGCCTGCGCTCCCTGGGCTATGACCTGCCCATGGTGGAGGAAGGGGAACCTGACCCTGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGTAAATTAATTAAGGCCAGGTGCTGTGAGCCTCTGCCCGGGGCACCCACCTGCCCTCCCTGCTCAGGCTCTTGCTTCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGG
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CATTAGGTAAAGATGGCCAGTTGCAGTTAGGTTTGGTTTCCTTAAAAGGAATGTGAGGTTGCCAGGCATTGCTCTCTCTGAGAGAAGGTTCATTCTGAGCTCTCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCTCTCTCTTTTCTTTCTTTCTTCATGGAATCTCTCTCTCGCCCAGGCTGGAGTGCAGTGGTGCGATATTGGCTCACTGCAACCTCCACCTCCCAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCAAATAGCTGTACTACAGATGTGTGCCACCACATTTGGCTAATTTTTGTTTATTTTTAATTATCTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGACGTGGTCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATCCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCTGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCCTAGTTTTTATATTTTTAGTAGAGACAGTGTTTTGCCTTGTTGGCCAGGCCGGTCTGGAACTCCTGATCTCCAGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCCCGGCCGAGGGCTCTTCACTTTAAAGAAAGTCTTTGGGGCTGGGTGTGGTGACTTACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATTGCTTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGATTCTGGGATGCGGAGGTTGCAGTGACCCGAGATCAGGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCCTCTGAAAAAAATTACTTGGGCATGGTGGCCTACACCTGCTCAAAGTCCAGCATGGGCAATATATAGCAAGACCTTGTCTTAAAAATAAGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCAAGACAGGCAGATCACTTGAGCCTAGGAATTCAAGACCAGCCTGGTCAATGCAGTGAAACATCGCCTCTACTAAAAATACAAAAATTAGGCAGGTGTGGTGATGGGCACCTGTTAGTTCCAGCTACTCAGGAGATTGAGGCAGGAGAATCACTTGAACCCGGGAGGTTGCAGTGAGCGTGATTGCGCCACTGCACTCTAGCCTAGGCGACAGTGAGACTCCATCTCAAAAAAATTTATAAAAATCTTTGGCCACTGCTTCCTGGAGTCCTCGCCGTACTTGTCCTTGGCGTGCACTGCCCTCTGGCAGGTCTACCAGCTGCTTTGGAACCCTCACATTGAAAGTCTCTCCCTCTATTGAGGTGGTTGGGATTTCTTCAGCTTCACCCCATCCCACTATTCCTATTCTAGAATGTTCTTGTTTTACGAGGTCTCAGGCCAGGCCTGGAGCAGGAACCAGAGGGCAGTAAGTGGCTCCTGGGCTGGTGACTGAGCTGAGGGCCCCCGTCTGAGCATCTGTGCTCCCCACCCCTGCAGCGCAAGCACCAGGAAATCCGAGCCATGAGAAGTCAGCTCAAAAAGATCGAGGACCTGGGGGCCGCCATGGAGGAGGCCCTCATCCTGGACAGCAAGTACACGGAGCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCTCGGCTTTGTGCTGCAGACACTTTGACAAGGACAAGTCTGGCAGGCTGAACCATCAGGAGTTCAAATCTTGCCTGCGCTCCCTGGGCTATGACCTGCCCATGGTGGAGGAAGGGGAACCTGACCCTGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGTAAATTAATTAAGGCCAGGTGCTGTGAGCCTCTGCCCGGGGCACCCACCTGCCCTCCCTGCTCAGGCTCTTGCTTCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGG
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Task1_train_13294
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Gene SPTAN1 (spectrin alpha, non-erythrocytic 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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TCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCTCTCTCTTTTCTTTCTTTCTTCATGGAATCTCTCTCTCGCCCAGGCTGGAGTGCAGTGGTGCGATATTGGCTCACTGCAACCTCCACCTCCCAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCAAATAGCTGTACTACAGATGTGTGCCACCACATTTGGCTAATTTTTGTTTATTTTTAATTATCTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGACGTGGTCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATCCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCTGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCCTAGTTTTTATATTTTTAGTAGAGACAGTGTTTTGCCTTGTTGGCCAGGCCGGTCTGGAACTCCTGATCTCCAGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCCCGGCCGAGGGCTCTTCACTTTAAAGAAAGTCTTTGGGGCTGGGTGTGGTGACTTACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATTGCTTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGATTCTGGGATGCGGAGGTTGCAGTGACCCGAGATCAGGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCCTCTGAAAAAAATTACTTGGGCATGGTGGCCTACACCTGCTCAAAGTCCAGCATGGGCAATATATAGCAAGACCTTGTCTTAAAAATAAGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCAAGACAGGCAGATCACTTGAGCCTAGGAATTCAAGACCAGCCTGGTCAATGCAGTGAAACATCGCCTCTACTAAAAATACAAAAATTAGGCAGGTGTGGTGATGGGCACCTGTTAGTTCCAGCTACTCAGGAGATTGAGGCAGGAGAATCACTTGAACCCGGGAGGTTGCAGTGAGCGTGATTGCGCCACTGCACTCTAGCCTAGGCGACAGTGAGACTCCATCTCAAAAAAATTTATAAAAATCTTTGGCCACTGCTTCCTGGAGTCCTCGCCGTACTTGTCCTTGGCGTGCACTGCCCTCTGGCAGGTCTACCAGCTGCTTTGGAACCCTCACATTGAAAGTCTCTCCCTCTATTGAGGTGGTTGGGATTTCTTCAGCTTCACCCCATCCCACTATTCCTATTCTAGAATGTTCTTGTTTTACGAGGTCTCAGGCCAGGCCTGGAGCAGGAACCAGAGGGCAGTAAGTGGCTCCTGGGCTGGTGACTGAGCTGAGGGCCCCCGTCTGAGCATCTGTGCTCCCCACCCCTGCAGCGCAAGCACCAGGAAATCCGAGCCATGAGAAGTCAGCTCAAAAAGATCGAGGACCTGGGGGCCGCCATGGAGGAGGCCCTCATCCTGGACAACAAGTACACGGAGCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCTCGGCTTTGTGCTGCAGACACTTTGACAAGGACAAGTCTGGCAGGCTGAACCATCAGGAGTTCAAATCTTGCCTGCGCTCCCTGGGCTATGACCTGCCCATGGTGGAGGAAGGGGAACCTGACCCTGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGTAAATTAATTAAGGCCAGGTGCTGTGAGCCTCTGCCCGGGGCACCCACCTGCCCTCCCTGCTCAGGCTCTTGCTTCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGGGGACCAGCGCACAGCAAACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGC
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TCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCTCTCTCTTTTCTTTCTTTCTTCATGGAATCTCTCTCTCGCCCAGGCTGGAGTGCAGTGGTGCGATATTGGCTCACTGCAACCTCCACCTCCCAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCAAATAGCTGTACTACAGATGTGTGCCACCACATTTGGCTAATTTTTGTTTATTTTTAATTATCTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGACGTGGTCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATCCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCTGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCCTAGTTTTTATATTTTTAGTAGAGACAGTGTTTTGCCTTGTTGGCCAGGCCGGTCTGGAACTCCTGATCTCCAGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCCCGGCCGAGGGCTCTTCACTTTAAAGAAAGTCTTTGGGGCTGGGTGTGGTGACTTACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATTGCTTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGATTCTGGGATGCGGAGGTTGCAGTGACCCGAGATCAGGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCCTCTGAAAAAAATTACTTGGGCATGGTGGCCTACACCTGCTCAAAGTCCAGCATGGGCAATATATAGCAAGACCTTGTCTTAAAAATAAGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCAAGACAGGCAGATCACTTGAGCCTAGGAATTCAAGACCAGCCTGGTCAATGCAGTGAAACATCGCCTCTACTAAAAATACAAAAATTAGGCAGGTGTGGTGATGGGCACCTGTTAGTTCCAGCTACTCAGGAGATTGAGGCAGGAGAATCACTTGAACCCGGGAGGTTGCAGTGAGCGTGATTGCGCCACTGCACTCTAGCCTAGGCGACAGTGAGACTCCATCTCAAAAAAATTTATAAAAATCTTTGGCCACTGCTTCCTGGAGTCCTCGCCGTACTTGTCCTTGGCGTGCACTGCCCTCTGGCAGGTCTACCAGCTGCTTTGGAACCCTCACATTGAAAGTCTCTCCCTCTATTGAGGTGGTTGGGATTTCTTCAGCTTCACCCCATCCCACTATTCCTATTCTAGAATGTTCTTGTTTTACGAGGTCTCAGGCCAGGCCTGGAGCAGGAACCAGAGGGCAGTAAGTGGCTCCTGGGCTGGTGACTGAGCTGAGGGCCCCCGTCTGAGCATCTGTGCTCCCCACCCCTGCAGCGCAAGCACCAGGAAATCCGAGCCATGAGAAGTCAGCTCAAAAAGATCGAGGACCTGGGGGCCGCCATGGAGGAGGCCCTCATCCTGGACAACAAGTACACGGAGCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGACAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCTCGGCTTTGTGCTGCAGACACTTTGACAAGGACAAGTCTGGCAGGCTGAACCATCAGGAGTTCAAATCTTGCCTGCGCTCCCTGGGCTATGACCTGCCCATGGTGGAGGAAGGGGAACCTGACCCTGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGTAAATTAATTAAGGCCAGGTGCTGTGAGCCTCTGCCCGGGGCACCCACCTGCCCTCCCTGCTCAGGCTCTTGCTTCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGGGGACCAGCGCACAGCAAACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGC
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Task1_train_13295
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A variant has been detected on Chromosome 9 in SPTAN1 (spectrin alpha, non-erythrocytic 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Developmental and epileptic encephalopathy, 5
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CCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCTGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCCTAGTTTTTATATTTTTAGTAGAGACAGTGTTTTGCCTTGTTGGCCAGGCCGGTCTGGAACTCCTGATCTCCAGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCCCGGCCGAGGGCTCTTCACTTTAAAGAAAGTCTTTGGGGCTGGGTGTGGTGACTTACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATTGCTTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGATTCTGGGATGCGGAGGTTGCAGTGACCCGAGATCAGGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCCTCTGAAAAAAATTACTTGGGCATGGTGGCCTACACCTGCTCAAAGTCCAGCATGGGCAATATATAGCAAGACCTTGTCTTAAAAATAAGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCAAGACAGGCAGATCACTTGAGCCTAGGAATTCAAGACCAGCCTGGTCAATGCAGTGAAACATCGCCTCTACTAAAAATACAAAAATTAGGCAGGTGTGGTGATGGGCACCTGTTAGTTCCAGCTACTCAGGAGATTGAGGCAGGAGAATCACTTGAACCCGGGAGGTTGCAGTGAGCGTGATTGCGCCACTGCACTCTAGCCTAGGCGACAGTGAGACTCCATCTCAAAAAAATTTATAAAAATCTTTGGCCACTGCTTCCTGGAGTCCTCGCCGTACTTGTCCTTGGCGTGCACTGCCCTCTGGCAGGTCTACCAGCTGCTTTGGAACCCTCACATTGAAAGTCTCTCCCTCTATTGAGGTGGTTGGGATTTCTTCAGCTTCACCCCATCCCACTATTCCTATTCTAGAATGTTCTTGTTTTACGAGGTCTCAGGCCAGGCCTGGAGCAGGAACCAGAGGGCAGTAAGTGGCTCCTGGGCTGGTGACTGAGCTGAGGGCCCCCGTCTGAGCATCTGTGCTCCCCACCCCTGCAGCGCAAGCACCAGGAAATCCGAGCCATGAGAAGTCAGCTCAAAAAGATCGAGGACCTGGGGGCCGCCATGGAGGAGGCCCTCATCCTGGACAACAAGTACACGGAGCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCTCGGCTTTGTGCTGCAGACACTTTGACAAGGACAAGTCTGGCAGGCTGAACCATCAGGAGTTCAAATCTTGCCTGCGCTCCCTGGGCTATGACCTGCCCATGGTGGAGGAAGGGGAACCTGACCCTGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGTAAATTAATTAAGGCCAGGTGCTGTGAGCCTCTGCCCGGGGCACCCACCTGCCCTCCCTGCTCAGGCTCTTGCTTCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGGGGACCAGCGCACAGCAAACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGCGCTCAGGAAGAGATTCCTAGACGGGATGCAGGGGGCCAGGCAAGGGAATCAGTGCTGGGGTCTGGGTGGTGCTGGCCCCCAACACCAGACCCCTCCTGGGCTGCCAGGCTCGTGAAGAGCCTCCCGGGTCCCTCAGCCTGGAGTTGGTCCTCTCATTAGAGAAGGGACGATGCCTGGGCCAACCACCAAAGACCTGAACACGGGTCTCAGAGTGGGCAGAAGGCAAGCACTTGAAGCAGTTTGTCATGAGGCTTGGCAGGCTAGAGACCCGCAGGGCAGGGACACCCTGGCCCCACTGTGCCCCAGGCCTGCCCTACGTACCTGTGGAAGGGGGAACAGCTCACAGAGTAGATGGGACCGCCGTGGGGGGAGAAGGTAAACTGTGCTGGGGCCCGCAGGGGCACGGAGCTGGGCATCCGCGTGAGGGCTGCCTCTCCAGCTGCCAGGGAACACTTGAGCGGGAAGCCGCCTTCCGTGCCCAGAATGAACAGCCTAGGGTCAAAGCTGGAGAAGGCCACTGCCGTGGCGCCCACCTCGGTCTCCCCGCGGGGATGCT
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CCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCTGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCCTAGTTTTTATATTTTTAGTAGAGACAGTGTTTTGCCTTGTTGGCCAGGCCGGTCTGGAACTCCTGATCTCCAGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCCCGGCCGAGGGCTCTTCACTTTAAAGAAAGTCTTTGGGGCTGGGTGTGGTGACTTACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATTGCTTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGATTCTGGGATGCGGAGGTTGCAGTGACCCGAGATCAGGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCCTCTGAAAAAAATTACTTGGGCATGGTGGCCTACACCTGCTCAAAGTCCAGCATGGGCAATATATAGCAAGACCTTGTCTTAAAAATAAGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCAAGACAGGCAGATCACTTGAGCCTAGGAATTCAAGACCAGCCTGGTCAATGCAGTGAAACATCGCCTCTACTAAAAATACAAAAATTAGGCAGGTGTGGTGATGGGCACCTGTTAGTTCCAGCTACTCAGGAGATTGAGGCAGGAGAATCACTTGAACCCGGGAGGTTGCAGTGAGCGTGATTGCGCCACTGCACTCTAGCCTAGGCGACAGTGAGACTCCATCTCAAAAAAATTTATAAAAATCTTTGGCCACTGCTTCCTGGAGTCCTCGCCGTACTTGTCCTTGGCGTGCACTGCCCTCTGGCAGGTCTACCAGCTGCTTTGGAACCCTCACATTGAAAGTCTCTCCCTCTATTGAGGTGGTTGGGATTTCTTCAGCTTCACCCCATCCCACTATTCCTATTCTAGAATGTTCTTGTTTTACGAGGTCTCAGGCCAGGCCTGGAGCAGGAACCAGAGGGCAGTAAGTGGCTCCTGGGCTGGTGACTGAGCTGAGGGCCCCCGTCTGAGCATCTGTGCTCCCCACCCCTGCAGCGCAAGCACCAGGAAATCCGAGCCATGAGAAGTCAGCTCAAAAAGATCGAGGACCTGGGGGCCGCCATGGAGGAGGCCCTCATCCTGGACAACAAGTACACGGAGCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCTCGGCTTTGTGCTGCAGACACTTTGACAAGGACAAGTCTGGCAGGCTGAACCATCAGGAGTTCAAATCTTGCCTGCGCTCCCTGGGCTATGACCTGCCCATGGTGGAGGAAGGGGAACCTGACCCTGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGTAAATTAATTAAGGCCAGGTGCTGTGAGCCTCTGCCCGGGGCACCCACCTGCCCTCCCTGCTCAGGCTCTTGCTTCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTTCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGGGGACCAGCGCACAGCAAACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGCGCTCAGGAAGAGATTCCTAGACGGGATGCAGGGGGCCAGGCAAGGGAATCAGTGCTGGGGTCTGGGTGGTGCTGGCCCCCAACACCAGACCCCTCCTGGGCTGCCAGGCTCGTGAAGAGCCTCCCGGGTCCCTCAGCCTGGAGTTGGTCCTCTCATTAGAGAAGGGACGATGCCTGGGCCAACCACCAAAGACCTGAACACGGGTCTCAGAGTGGGCAGAAGGCAAGCACTTGAAGCAGTTTGTCATGAGGCTTGGCAGGCTAGAGACCCGCAGGGCAGGGACACCCTGGCCCCACTGTGCCCCAGGCCTGCCCTACGTACCTGTGGAAGGGGGAACAGCTCACAGAGTAGATGGGACCGCCGTGGGGGGAGAAGGTAAACTGTGCTGGGGCCCGCAGGGGCACGGAGCTGGGCATCCGCGTGAGGGCTGCCTCTCCAGCTGCCAGGGAACACTTGAGCGGGAAGCCGCCTTCCGTGCCCAGAATGAACAGCCTAGGGTCAAAGCTGGAGAAGGCCACTGCCGTGGCGCCCACCTCGGTCTCCCCGCGGGGATGCT
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Task1_train_13296
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This variant affects gene DYNC2I2 (dynein 2 intermediate chain 2) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
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Pathogenic; Short-rib thoracic dysplasia 11 with or without polydactyly
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CCTGGACAACAAGTACACGGAGCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCTCGGCTTTGTGCTGCAGACACTTTGACAAGGACAAGTCTGGCAGGCTGAACCATCAGGAGTTCAAATCTTGCCTGCGCTCCCTGGGCTATGACCTGCCCATGGTGGAGGAAGGGGAACCTGACCCTGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGTAAATTAATTAAGGCCAGGTGCTGTGAGCCTCTGCCCGGGGCACCCACCTGCCCTCCCTGCTCAGGCTCTTGCTTCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGGGGACCAGCGCACAGCAAACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGCGCTCAGGAAGAGATTCCTAGACGGGATGCAGGGGGCCAGGCAAGGGAATCAGTGCTGGGGTCTGGGTGGTGCTGGCCCCCAACACCAGACCCCTCCTGGGCTGCCAGGCTCGTGAAGAGCCTCCCGGGTCCCTCAGCCTGGAGTTGGTCCTCTCATTAGAGAAGGGACGATGCCTGGGCCAACCACCAAAGACCTGAACACGGGTCTCAGAGTGGGCAGAAGGCAAGCACTTGAAGCAGTTTGTCATGAGGCTTGGCAGGCTAGAGACCCGCAGGGCAGGGACACCCTGGCCCCACTGTGCCCCAGGCCTGCCCTACGTACCTGTGGAAGGGGGAACAGCTCACAGAGTAGATGGGACCGCCGTGGGGGGAGAAGGTAAACTGTGCTGGGGCCCGCAGGGGCACGGAGCTGGGCATCCGCGTGAGGGCTGCCTCTCCAGCTGCCAGGGAACACTTGAGCGGGAAGCCGCCTTCCGTGCCCAGAATGAACAGCCTAGGGTCAAAGCTGGAGAAGGCCACTGCCGTGGCGCCCACCTCGGTCTCCCCGCGGGGATGCTGTGGAGAAATGGCAGCAGCAGGGTCAGAGCCAAGGGCATCAGATGGCACTGTCCCAACAGAGCCAGAGAACAGGAGGGGAGATCACAGCAAGTCAGGCCCACTGCCACACCTTCCCACCCCCAAGGCTCACCGGCGCAGGCCAGGGCAGTTTCCGGGTGCCCACGTACCTTCTTGAGCTTGGTGCTCCGTGGCAGCTGCTGCATGACCAGGGCGAAGCCCTCTGTGAGCTGCAGCTGGCCTACCCCGATGCCCTGCCAGAGTAGCACCTTCCCGTCGGTGGCCACACTCAGCACCTGGAAGCGGTGGCTGTGCCCAGGCTCGGGCAGCCACACCACCTGAGTTAACAGCATGCAGGGCCAGGATGGAGACAAGGGACACCTGCCCAGGTGTCACGCTCCACCCCTACCCTCCCTCTCTTCCAGGAAAAAAAAAAATTCTCCGGGAGGCCCCAGAACCAGGCTCACCCACCAGGGGGCAGGCCTGGAGGGTTCCCAGGGCCCTCTCCAGTCCCAGAATCCCAGCGCTGCTCACTCGGTGCCTGCAGAGGAGGCTGGGAATGGCCACAGGGCCCTGGGAGTGGCTCCTGAGGGGGGTGACTCATGCTGCGGGAGCTCCGAGAATGCAGGAGGCAGCTGTCCAACTGCCAACGCCCGGGTGACCTTCCTAGGAGAGTGGGCGCCCTCTCCCCAGCTCTGCCTCAGGGCCCACCCCGCCCGGCAGCCCCTGCCCTGACCTGGGACACAGGGTCTGTGTGGGTGTCATCCGTCAGGCCTGTGCGCCACAGCAGCGGGTCCTCAAGACGGCTCAGGTCCCACACCAACACCTCACCACTGTACAGCCCTCCTGCAGGGACAGTGGACCTGGGCAGAGGCTCAGCCCCACCCCCAGCCTGACTTCCTGGCCAAACACCCGCCCCAGCCCACCTACAGGGCCAGGGCCAGGGCCAGGCGGCAGAGCCACTTGGCTGGAAGTCATCCCCACAGAGGGAGAGTCCTAGCCCCCAGCTCCCCTGTTGTACCCCAGGGAGCTTTGCCGGACACCCCTGCCCTGCACCTGGCAGCTCCCTCCAGCGTTGCCTGCCCCCTACCACTGACGGCTTCCCAAGGGCACCTGCCTCTTCTGGCCTCTCCACAGCCCCCTGTCCTGGCCCCGACCCTGGCCCCCTTCCAGACTCCTCCCCCGAGTTCCACCCCTCAGGGCTCACTGCAGACCTTCACCTGGGCTCCAGACTGAGAGGGTCAGGGCCCGCCTTCCTGTCTCCGGGCCAAAGGGCCCATGGAAAGCTCCCTTGTGCCCTCTGCAGGGCGGGAAGCTGAGTCCTGAGAGGAGAGGAGGCGGACACAGCAGGCAGCTCACCTGCGACGTGGGAGGGCTGCGTGGG
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CCTGGACAACAAGTACACGGAGCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCTCGGCTTTGTGCTGCAGACACTTTGACAAGGACAAGTCTGGCAGGCTGAACCATCAGGAGTTCAAATCTTGCCTGCGCTCCCTGGGCTATGACCTGCCCATGGTGGAGGAAGGGGAACCTGACCCTGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGTAAATTAATTAAGGCCAGGTGCTGTGAGCCTCTGCCCGGGGCACCCACCTGCCCTCCCTGCTCAGGCTCTTGCTTCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCTGCACTGGGGACCAGCGCACAGCAAACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGCGCTCAGGAAGAGATTCCTAGACGGGATGCAGGGGGCCAGGCAAGGGAATCAGTGCTGGGGTCTGGGTGGTGCTGGCCCCCAACACCAGACCCCTCCTGGGCTGCCAGGCTCGTGAAGAGCCTCCCGGGTCCCTCAGCCTGGAGTTGGTCCTCTCATTAGAGAAGGGACGATGCCTGGGCCAACCACCAAAGACCTGAACACGGGTCTCAGAGTGGGCAGAAGGCAAGCACTTGAAGCAGTTTGTCATGAGGCTTGGCAGGCTAGAGACCCGCAGGGCAGGGACACCCTGGCCCCACTGTGCCCCAGGCCTGCCCTACGTACCTGTGGAAGGGGGAACAGCTCACAGAGTAGATGGGACCGCCGTGGGGGGAGAAGGTAAACTGTGCTGGGGCCCGCAGGGGCACGGAGCTGGGCATCCGCGTGAGGGCTGCCTCTCCAGCTGCCAGGGAACACTTGAGCGGGAAGCCGCCTTCCGTGCCCAGAATGAACAGCCTAGGGTCAAAGCTGGAGAAGGCCACTGCCGTGGCGCCCACCTCGGTCTCCCCGCGGGGATGCTGTGGAGAAATGGCAGCAGCAGGGTCAGAGCCAAGGGCATCAGATGGCACTGTCCCAACAGAGCCAGAGAACAGGAGGGGAGATCACAGCAAGTCAGGCCCACTGCCACACCTTCCCACCCCCAAGGCTCACCGGCGCAGGCCAGGGCAGTTTCCGGGTGCCCACGTACCTTCTTGAGCTTGGTGCTCCGTGGCAGCTGCTGCATGACCAGGGCGAAGCCCTCTGTGAGCTGCAGCTGGCCTACCCCGATGCCCTGCCAGAGTAGCACCTTCCCGTCGGTGGCCACACTCAGCACCTGGAAGCGGTGGCTGTGCCCAGGCTCGGGCAGCCACACCACCTGAGTTAACAGCATGCAGGGCCAGGATGGAGACAAGGGACACCTGCCCAGGTGTCACGCTCCACCCCTACCCTCCCTCTCTTCCAGGAAAAAAAAAAATTCTCCGGGAGGCCCCAGAACCAGGCTCACCCACCAGGGGGCAGGCCTGGAGGGTTCCCAGGGCCCTCTCCAGTCCCAGAATCCCAGCGCTGCTCACTCGGTGCCTGCAGAGGAGGCTGGGAATGGCCACAGGGCCCTGGGAGTGGCTCCTGAGGGGGGTGACTCATGCTGCGGGAGCTCCGAGAATGCAGGAGGCAGCTGTCCAACTGCCAACGCCCGGGTGACCTTCCTAGGAGAGTGGGCGCCCTCTCCCCAGCTCTGCCTCAGGGCCCACCCCGCCCGGCAGCCCCTGCCCTGACCTGGGACACAGGGTCTGTGTGGGTGTCATCCGTCAGGCCTGTGCGCCACAGCAGCGGGTCCTCAAGACGGCTCAGGTCCCACACCAACACCTCACCACTGTACAGCCCTCCTGCAGGGACAGTGGACCTGGGCAGAGGCTCAGCCCCACCCCCAGCCTGACTTCCTGGCCAAACACCCGCCCCAGCCCACCTACAGGGCCAGGGCCAGGGCCAGGCGGCAGAGCCACTTGGCTGGAAGTCATCCCCACAGAGGGAGAGTCCTAGCCCCCAGCTCCCCTGTTGTACCCCAGGGAGCTTTGCCGGACACCCCTGCCCTGCACCTGGCAGCTCCCTCCAGCGTTGCCTGCCCCCTACCACTGACGGCTTCCCAAGGGCACCTGCCTCTTCTGGCCTCTCCACAGCCCCCTGTCCTGGCCCCGACCCTGGCCCCCTTCCAGACTCCTCCCCCGAGTTCCACCCCTCAGGGCTCACTGCAGACCTTCACCTGGGCTCCAGACTGAGAGGGTCAGGGCCCGCCTTCCTGTCTCCGGGCCAAAGGGCCCATGGAAAGCTCCCTTGTGCCCTCTGCAGGGCGGGAAGCTGAGTCCTGAGAGGAGAGGAGGCGGACACAGCAGGCAGCTCACCTGCGACGTGGGAGGGCTGCGTGGG
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Task1_train_13297
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The gene DYNC2I2 (dynein 2 intermediate chain 2) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Short-rib thoracic dysplasia 11 with or without polydactyly
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GGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCTCGGCTTTGTGCTGCAGACACTTTGACAAGGACAAGTCTGGCAGGCTGAACCATCAGGAGTTCAAATCTTGCCTGCGCTCCCTGGGCTATGACCTGCCCATGGTGGAGGAAGGGGAACCTGACCCTGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGTAAATTAATTAAGGCCAGGTGCTGTGAGCCTCTGCCCGGGGCACCCACCTGCCCTCCCTGCTCAGGCTCTTGCTTCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGGGGACCAGCGCACAGCAAACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGCGCTCAGGAAGAGATTCCTAGACGGGATGCAGGGGGCCAGGCAAGGGAATCAGTGCTGGGGTCTGGGTGGTGCTGGCCCCCAACACCAGACCCCTCCTGGGCTGCCAGGCTCGTGAAGAGCCTCCCGGGTCCCTCAGCCTGGAGTTGGTCCTCTCATTAGAGAAGGGACGATGCCTGGGCCAACCACCAAAGACCTGAACACGGGTCTCAGAGTGGGCAGAAGGCAAGCACTTGAAGCAGTTTGTCATGAGGCTTGGCAGGCTAGAGACCCGCAGGGCAGGGACACCCTGGCCCCACTGTGCCCCAGGCCTGCCCTACGTACCTGTGGAAGGGGGAACAGCTCACAGAGTAGATGGGACCGCCGTGGGGGGAGAAGGTAAACTGTGCTGGGGCCCGCAGGGGCACGGAGCTGGGCATCCGCGTGAGGGCTGCCTCTCCAGCTGCCAGGGAACACTTGAGCGGGAAGCCGCCTTCCGTGCCCAGAATGAACAGCCTAGGGTCAAAGCTGGAGAAGGCCACTGCCGTGGCGCCCACCTCGGTCTCCCCGCGGGGATGCTGTGGAGAAATGGCAGCAGCAGGGTCAGAGCCAAGGGCATCAGATGGCACTGTCCCAACAGAGCCAGAGAACAGGAGGGGAGATCACAGCAAGTCAGGCCCACTGCCACACCTTCCCACCCCCAAGGCTCACCGGCGCAGGCCAGGGCAGTTTCCGGGTGCCCACGTACCTTCTTGAGCTTGGTGCTCCGTGGCAGCTGCTGCATGACCAGGGCGAAGCCCTCTGTGAGCTGCAGCTGGCCTACCCCGATGCCCTGCCAGAGTAGCACCTTCCCGTCGGTGGCCACACTCAGCACCTGGAAGCGGTGGCTGTGCCCAGGCTCGGGCAGCCACACCACCTGAGTTAACAGCATGCAGGGCCAGGATGGAGACAAGGGACACCTGCCCAGGTGTCACGCTCCACCCCTACCCTCCCTCTCTTCCAGGAAAAAAAAAAATTCTCCGGGAGGCCCCAGAACCAGGCTCACCCACCAGGGGGCAGGCCTGGAGGGTTCCCAGGGCCCTCTCCAGTCCCAGAATCCCAGCGCTGCTCACTCGGTGCCTGCAGAGGAGGCTGGGAATGGCCACAGGGCCCTGGGAGTGGCTCCTGAGGGGGGTGACTCATGCTGCGGGAGCTCCGAGAATGCAGGAGGCAGCTGTCCAACTGCCAACGCCCGGGTGACCTTCCTAGGAGAGTGGGCGCCCTCTCCCCAGCTCTGCCTCAGGGCCCACCCCGCCCGGCAGCCCCTGCCCTGACCTGGGACACAGGGTCTGTGTGGGTGTCATCCGTCAGGCCTGTGCGCCACAGCAGCGGGTCCTCAAGACGGCTCAGGTCCCACACCAACACCTCACCACTGTACAGCCCTCCTGCAGGGACAGTGGACCTGGGCAGAGGCTCAGCCCCACCCCCAGCCTGACTTCCTGGCCAAACACCCGCCCCAGCCCACCTACAGGGCCAGGGCCAGGGCCAGGCGGCAGAGCCACTTGGCTGGAAGTCATCCCCACAGAGGGAGAGTCCTAGCCCCCAGCTCCCCTGTTGTACCCCAGGGAGCTTTGCCGGACACCCCTGCCCTGCACCTGGCAGCTCCCTCCAGCGTTGCCTGCCCCCTACCACTGACGGCTTCCCAAGGGCACCTGCCTCTTCTGGCCTCTCCACAGCCCCCTGTCCTGGCCCCGACCCTGGCCCCCTTCCAGACTCCTCCCCCGAGTTCCACCCCTCAGGGCTCACTGCAGACCTTCACCTGGGCTCCAGACTGAGAGGGTCAGGGCCCGCCTTCCTGTCTCCGGGCCAAAGGGCCCATGGAAAGCTCCCTTGTGCCCTCTGCAGGGCGGGAAGCTGAGTCCTGAGAGGAGAGGAGGCGGACACAGCAGGCAGCTCACCTGCGACGTGGGAGGGCTGCGTGGGGTGGAAGGCCAGACACAGGACAGCGCTGGGGAC
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GGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCTCGGCTTTGTGCTGCAGACACTTTGACAAGGACAAGTCTGGCAGGCTGAACCATCAGGAGTTCAAATCTTGCCTGCGCTCCCTGGGCTATGACCTGCCCATGGTGGAGGAAGGGGAACCTGACCCTGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGTAAATTAATTAAGGCCAGGTGCTGTGAGCCTCTGCCCGGGGCACCCACCTGCCCTCCCTGCTCAGGCTCTTGCTTCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGGGGACCAGCGCACAGCAAACAGATACCTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGCGCTCAGGAAGAGATTCCTAGACGGGATGCAGGGGGCCAGGCAAGGGAATCAGTGCTGGGGTCTGGGTGGTGCTGGCCCCCAACACCAGACCCCTCCTGGGCTGCCAGGCTCGTGAAGAGCCTCCCGGGTCCCTCAGCCTGGAGTTGGTCCTCTCATTAGAGAAGGGACGATGCCTGGGCCAACCACCAAAGACCTGAACACGGGTCTCAGAGTGGGCAGAAGGCAAGCACTTGAAGCAGTTTGTCATGAGGCTTGGCAGGCTAGAGACCCGCAGGGCAGGGACACCCTGGCCCCACTGTGCCCCAGGCCTGCCCTACGTACCTGTGGAAGGGGGAACAGCTCACAGAGTAGATGGGACCGCCGTGGGGGGAGAAGGTAAACTGTGCTGGGGCCCGCAGGGGCACGGAGCTGGGCATCCGCGTGAGGGCTGCCTCTCCAGCTGCCAGGGAACACTTGAGCGGGAAGCCGCCTTCCGTGCCCAGAATGAACAGCCTAGGGTCAAAGCTGGAGAAGGCCACTGCCGTGGCGCCCACCTCGGTCTCCCCGCGGGGATGCTGTGGAGAAATGGCAGCAGCAGGGTCAGAGCCAAGGGCATCAGATGGCACTGTCCCAACAGAGCCAGAGAACAGGAGGGGAGATCACAGCAAGTCAGGCCCACTGCCACACCTTCCCACCCCCAAGGCTCACCGGCGCAGGCCAGGGCAGTTTCCGGGTGCCCACGTACCTTCTTGAGCTTGGTGCTCCGTGGCAGCTGCTGCATGACCAGGGCGAAGCCCTCTGTGAGCTGCAGCTGGCCTACCCCGATGCCCTGCCAGAGTAGCACCTTCCCGTCGGTGGCCACACTCAGCACCTGGAAGCGGTGGCTGTGCCCAGGCTCGGGCAGCCACACCACCTGAGTTAACAGCATGCAGGGCCAGGATGGAGACAAGGGACACCTGCCCAGGTGTCACGCTCCACCCCTACCCTCCCTCTCTTCCAGGAAAAAAAAAAATTCTCCGGGAGGCCCCAGAACCAGGCTCACCCACCAGGGGGCAGGCCTGGAGGGTTCCCAGGGCCCTCTCCAGTCCCAGAATCCCAGCGCTGCTCACTCGGTGCCTGCAGAGGAGGCTGGGAATGGCCACAGGGCCCTGGGAGTGGCTCCTGAGGGGGGTGACTCATGCTGCGGGAGCTCCGAGAATGCAGGAGGCAGCTGTCCAACTGCCAACGCCCGGGTGACCTTCCTAGGAGAGTGGGCGCCCTCTCCCCAGCTCTGCCTCAGGGCCCACCCCGCCCGGCAGCCCCTGCCCTGACCTGGGACACAGGGTCTGTGTGGGTGTCATCCGTCAGGCCTGTGCGCCACAGCAGCGGGTCCTCAAGACGGCTCAGGTCCCACACCAACACCTCACCACTGTACAGCCCTCCTGCAGGGACAGTGGACCTGGGCAGAGGCTCAGCCCCACCCCCAGCCTGACTTCCTGGCCAAACACCCGCCCCAGCCCACCTACAGGGCCAGGGCCAGGGCCAGGCGGCAGAGCCACTTGGCTGGAAGTCATCCCCACAGAGGGAGAGTCCTAGCCCCCAGCTCCCCTGTTGTACCCCAGGGAGCTTTGCCGGACACCCCTGCCCTGCACCTGGCAGCTCCCTCCAGCGTTGCCTGCCCCCTACCACTGACGGCTTCCCAAGGGCACCTGCCTCTTCTGGCCTCTCCACAGCCCCCTGTCCTGGCCCCGACCCTGGCCCCCTTCCAGACTCCTCCCCCGAGTTCCACCCCTCAGGGCTCACTGCAGACCTTCACCTGGGCTCCAGACTGAGAGGGTCAGGGCCCGCCTTCCTGTCTCCGGGCCAAAGGGCCCATGGAAAGCTCCCTTGTGCCCTCTGCAGGGCGGGAAGCTGAGTCCTGAGAGGAGAGGAGGCGGACACAGCAGGCAGCTCACCTGCGACGTGGGAGGGCTGCGTGGGGTGGAAGGCCAGACACAGGACAGCGCTGGGGAC
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Task1_train_13298
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A variant on Chromosome 9 in gene DYNC2I2, LOC126860772 (dynein 2 intermediate chain 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; DYNC2I2-related disorder
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TCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGGGGACCAGCGCACAGCAAACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGCGCTCAGGAAGAGATTCCTAGACGGGATGCAGGGGGCCAGGCAAGGGAATCAGTGCTGGGGTCTGGGTGGTGCTGGCCCCCAACACCAGACCCCTCCTGGGCTGCCAGGCTCGTGAAGAGCCTCCCGGGTCCCTCAGCCTGGAGTTGGTCCTCTCATTAGAGAAGGGACGATGCCTGGGCCAACCACCAAAGACCTGAACACGGGTCTCAGAGTGGGCAGAAGGCAAGCACTTGAAGCAGTTTGTCATGAGGCTTGGCAGGCTAGAGACCCGCAGGGCAGGGACACCCTGGCCCCACTGTGCCCCAGGCCTGCCCTACGTACCTGTGGAAGGGGGAACAGCTCACAGAGTAGATGGGACCGCCGTGGGGGGAGAAGGTAAACTGTGCTGGGGCCCGCAGGGGCACGGAGCTGGGCATCCGCGTGAGGGCTGCCTCTCCAGCTGCCAGGGAACACTTGAGCGGGAAGCCGCCTTCCGTGCCCAGAATGAACAGCCTAGGGTCAAAGCTGGAGAAGGCCACTGCCGTGGCGCCCACCTCGGTCTCCCCGCGGGGATGCTGTGGAGAAATGGCAGCAGCAGGGTCAGAGCCAAGGGCATCAGATGGCACTGTCCCAACAGAGCCAGAGAACAGGAGGGGAGATCACAGCAAGTCAGGCCCACTGCCACACCTTCCCACCCCCAAGGCTCACCGGCGCAGGCCAGGGCAGTTTCCGGGTGCCCACGTACCTTCTTGAGCTTGGTGCTCCGTGGCAGCTGCTGCATGACCAGGGCGAAGCCCTCTGTGAGCTGCAGCTGGCCTACCCCGATGCCCTGCCAGAGTAGCACCTTCCCGTCGGTGGCCACACTCAGCACCTGGAAGCGGTGGCTGTGCCCAGGCTCGGGCAGCCACACCACCTGAGTTAACAGCATGCAGGGCCAGGATGGAGACAAGGGACACCTGCCCAGGTGTCACGCTCCACCCCTACCCTCCCTCTCTTCCAGGAAAAAAAAAAATTCTCCGGGAGGCCCCAGAACCAGGCTCACCCACCAGGGGGCAGGCCTGGAGGGTTCCCAGGGCCCTCTCCAGTCCCAGAATCCCAGCGCTGCTCACTCGGTGCCTGCAGAGGAGGCTGGGAATGGCCACAGGGCCCTGGGAGTGGCTCCTGAGGGGGGTGACTCATGCTGCGGGAGCTCCGAGAATGCAGGAGGCAGCTGTCCAACTGCCAACGCCCGGGTGACCTTCCTAGGAGAGTGGGCGCCCTCTCCCCAGCTCTGCCTCAGGGCCCACCCCGCCCGGCAGCCCCTGCCCTGACCTGGGACACAGGGTCTGTGTGGGTGTCATCCGTCAGGCCTGTGCGCCACAGCAGCGGGTCCTCAAGACGGCTCAGGTCCCACACCAACACCTCACCACTGTACAGCCCTCCTGCAGGGACAGTGGACCTGGGCAGAGGCTCAGCCCCACCCCCAGCCTGACTTCCTGGCCAAACACCCGCCCCAGCCCACCTACAGGGCCAGGGCCAGGGCCAGGCGGCAGAGCCACTTGGCTGGAAGTCATCCCCACAGAGGGAGAGTCCTAGCCCCCAGCTCCCCTGTTGTACCCCAGGGAGCTTTGCCGGACACCCCTGCCCTGCACCTGGCAGCTCCCTCCAGCGTTGCCTGCCCCCTACCACTGACGGCTTCCCAAGGGCACCTGCCTCTTCTGGCCTCTCCACAGCCCCCTGTCCTGGCCCCGACCCTGGCCCCCTTCCAGACTCCTCCCCCGAGTTCCACCCCTCAGGGCTCACTGCAGACCTTCACCTGGGCTCCAGACTGAGAGGGTCAGGGCCCGCCTTCCTGTCTCCGGGCCAAAGGGCCCATGGAAAGCTCCCTTGTGCCCTCTGCAGGGCGGGAAGCTGAGTCCTGAGAGGAGAGGAGGCGGACACAGCAGGCAGCTCACCTGCGACGTGGGAGGGCTGCGTGGGGTGGAAGGCCAGACACAGGACAGCGCTGGGGACCTCCACCACGGCCGACGGCTGCTGGGGACGCAGGTCTCGCCGGTCCAGGTTCCAGGCACACACGAAGGACTTAAGCGTGCTCCAGTCCCCATGGTCCAGCCTGTGCAGGGACAGGCTTGAGCCGGCTGTGCCCCTGGGTGGGGCTCCTATCACCCACCCCACCTCTCTCCCCACTAGCCCCGGACACACTCGCTGTGTCCTTGTCACCACCAGACACTACTCTGGGTATTGAAGTGGCCCACACTCCACTCTAGCACCCCAAGGGTGTGGCATTCTCTGGAAAATGGTCCCCAGGCACCAAGGACAGTCCATGCCATGCAGGATGGGGAAGCAGCTGGTGGGGCGGGCGAGGCAGGCAGGCCCAGGGCCTCCAGGCAGGGGGGAGGGTGATCCTGGCACTCAGCCCCACTGCCTGCTCTTCTGCCACTTGTTGTCAACCCTGCCCAGGAAGGCTTGAGAAGAGACTCCCAGGATGGCCAAGCTCTTAGAACCAGCCCTTCCCTGTGCAGCTACAGAGACAAGGCCCAAGGAGGGTCCTGGGGTGGCGAGCT
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TCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGGGGACCAGCGCACAGCAAACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGCGCTCAGGAAGAGATTCCTAGACGGGATGCAGGGGGCCAGGCAAGGGAATCAGTGCTGGGGTCTGGGTGGTGCTGGCCCCCAACACCAGACCCCTCCTGGGCTGCCAGGCTCGTGAAGAGCCTCCCGGGTCCCTCAGCCTGGAGTTGGTCCTCTCATTAGAGAAGGGACGATGCCTGGGCCAACCACCAAAGACCTGAACACGGGTCTCAGAGTGGGCAGAAGGCAAGCACTTGAAGCAGTTTGTCATGAGGCTTGGCAGGCTAGAGACCCGCAGGGCAGGGACACCCTGGCCCCACTGTGCCCCAGGCCTGCCCTACGTACCTGTGGAAGGGGGAACAGCTCACAGAGTAGATGGGACCGCCGTGGGGGGAGAAGGTAAACTGTGCTGGGGCCCGCAGGGGCACGGAGCTGGGCATCCGCGTGAGGGCTGCCTCTCCAGCTGCCAGGGAACACTTGAGCGGGAAGCCGCCTTCCATGCCCAGAATGAACAGCCTAGGGTCAAAGCTGGAGAAGGCCACTGCCGTGGCGCCCACCTCGGTCTCCCCGCGGGGATGCTGTGGAGAAATGGCAGCAGCAGGGTCAGAGCCAAGGGCATCAGATGGCACTGTCCCAACAGAGCCAGAGAACAGGAGGGGAGATCACAGCAAGTCAGGCCCACTGCCACACCTTCCCACCCCCAAGGCTCACCGGCGCAGGCCAGGGCAGTTTCCGGGTGCCCACGTACCTTCTTGAGCTTGGTGCTCCGTGGCAGCTGCTGCATGACCAGGGCGAAGCCCTCTGTGAGCTGCAGCTGGCCTACCCCGATGCCCTGCCAGAGTAGCACCTTCCCGTCGGTGGCCACACTCAGCACCTGGAAGCGGTGGCTGTGCCCAGGCTCGGGCAGCCACACCACCTGAGTTAACAGCATGCAGGGCCAGGATGGAGACAAGGGACACCTGCCCAGGTGTCACGCTCCACCCCTACCCTCCCTCTCTTCCAGGAAAAAAAAAAATTCTCCGGGAGGCCCCAGAACCAGGCTCACCCACCAGGGGGCAGGCCTGGAGGGTTCCCAGGGCCCTCTCCAGTCCCAGAATCCCAGCGCTGCTCACTCGGTGCCTGCAGAGGAGGCTGGGAATGGCCACAGGGCCCTGGGAGTGGCTCCTGAGGGGGGTGACTCATGCTGCGGGAGCTCCGAGAATGCAGGAGGCAGCTGTCCAACTGCCAACGCCCGGGTGACCTTCCTAGGAGAGTGGGCGCCCTCTCCCCAGCTCTGCCTCAGGGCCCACCCCGCCCGGCAGCCCCTGCCCTGACCTGGGACACAGGGTCTGTGTGGGTGTCATCCGTCAGGCCTGTGCGCCACAGCAGCGGGTCCTCAAGACGGCTCAGGTCCCACACCAACACCTCACCACTGTACAGCCCTCCTGCAGGGACAGTGGACCTGGGCAGAGGCTCAGCCCCACCCCCAGCCTGACTTCCTGGCCAAACACCCGCCCCAGCCCACCTACAGGGCCAGGGCCAGGGCCAGGCGGCAGAGCCACTTGGCTGGAAGTCATCCCCACAGAGGGAGAGTCCTAGCCCCCAGCTCCCCTGTTGTACCCCAGGGAGCTTTGCCGGACACCCCTGCCCTGCACCTGGCAGCTCCCTCCAGCGTTGCCTGCCCCCTACCACTGACGGCTTCCCAAGGGCACCTGCCTCTTCTGGCCTCTCCACAGCCCCCTGTCCTGGCCCCGACCCTGGCCCCCTTCCAGACTCCTCCCCCGAGTTCCACCCCTCAGGGCTCACTGCAGACCTTCACCTGGGCTCCAGACTGAGAGGGTCAGGGCCCGCCTTCCTGTCTCCGGGCCAAAGGGCCCATGGAAAGCTCCCTTGTGCCCTCTGCAGGGCGGGAAGCTGAGTCCTGAGAGGAGAGGAGGCGGACACAGCAGGCAGCTCACCTGCGACGTGGGAGGGCTGCGTGGGGTGGAAGGCCAGACACAGGACAGCGCTGGGGACCTCCACCACGGCCGACGGCTGCTGGGGACGCAGGTCTCGCCGGTCCAGGTTCCAGGCACACACGAAGGACTTAAGCGTGCTCCAGTCCCCATGGTCCAGCCTGTGCAGGGACAGGCTTGAGCCGGCTGTGCCCCTGGGTGGGGCTCCTATCACCCACCCCACCTCTCTCCCCACTAGCCCCGGACACACTCGCTGTGTCCTTGTCACCACCAGACACTACTCTGGGTATTGAAGTGGCCCACACTCCACTCTAGCACCCCAAGGGTGTGGCATTCTCTGGAAAATGGTCCCCAGGCACCAAGGACAGTCCATGCCATGCAGGATGGGGAAGCAGCTGGTGGGGCGGGCGAGGCAGGCAGGCCCAGGGCCTCCAGGCAGGGGGGAGGGTGATCCTGGCACTCAGCCCCACTGCCTGCTCTTCTGCCACTTGTTGTCAACCCTGCCCAGGAAGGCTTGAGAAGAGACTCCCAGGATGGCCAAGCTCTTAGAACCAGCCCTTCCCTGTGCAGCTACAGAGACAAGGCCCAAGGAGGGTCCTGGGGTGGCGAGCT
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Task1_train_13299
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Chromosome 9 houses a mutation in gene DYNC2I2, LOC126860772 (dynein 2 intermediate chain 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Short-rib thoracic dysplasia 11 with or without polydactyly
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TACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGGGGACCAGCGCACAGCAAACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGCGCTCAGGAAGAGATTCCTAGACGGGATGCAGGGGGCCAGGCAAGGGAATCAGTGCTGGGGTCTGGGTGGTGCTGGCCCCCAACACCAGACCCCTCCTGGGCTGCCAGGCTCGTGAAGAGCCTCCCGGGTCCCTCAGCCTGGAGTTGGTCCTCTCATTAGAGAAGGGACGATGCCTGGGCCAACCACCAAAGACCTGAACACGGGTCTCAGAGTGGGCAGAAGGCAAGCACTTGAAGCAGTTTGTCATGAGGCTTGGCAGGCTAGAGACCCGCAGGGCAGGGACACCCTGGCCCCACTGTGCCCCAGGCCTGCCCTACGTACCTGTGGAAGGGGGAACAGCTCACAGAGTAGATGGGACCGCCGTGGGGGGAGAAGGTAAACTGTGCTGGGGCCCGCAGGGGCACGGAGCTGGGCATCCGCGTGAGGGCTGCCTCTCCAGCTGCCAGGGAACACTTGAGCGGGAAGCCGCCTTCCGTGCCCAGAATGAACAGCCTAGGGTCAAAGCTGGAGAAGGCCACTGCCGTGGCGCCCACCTCGGTCTCCCCGCGGGGATGCTGTGGAGAAATGGCAGCAGCAGGGTCAGAGCCAAGGGCATCAGATGGCACTGTCCCAACAGAGCCAGAGAACAGGAGGGGAGATCACAGCAAGTCAGGCCCACTGCCACACCTTCCCACCCCCAAGGCTCACCGGCGCAGGCCAGGGCAGTTTCCGGGTGCCCACGTACCTTCTTGAGCTTGGTGCTCCGTGGCAGCTGCTGCATGACCAGGGCGAAGCCCTCTGTGAGCTGCAGCTGGCCTACCCCGATGCCCTGCCAGAGTAGCACCTTCCCGTCGGTGGCCACACTCAGCACCTGGAAGCGGTGGCTGTGCCCAGGCTCGGGCAGCCACACCACCTGAGTTAACAGCATGCAGGGCCAGGATGGAGACAAGGGACACCTGCCCAGGTGTCACGCTCCACCCCTACCCTCCCTCTCTTCCAGGAAAAAAAAAAATTCTCCGGGAGGCCCCAGAACCAGGCTCACCCACCAGGGGGCAGGCCTGGAGGGTTCCCAGGGCCCTCTCCAGTCCCAGAATCCCAGCGCTGCTCACTCGGTGCCTGCAGAGGAGGCTGGGAATGGCCACAGGGCCCTGGGAGTGGCTCCTGAGGGGGGTGACTCATGCTGCGGGAGCTCCGAGAATGCAGGAGGCAGCTGTCCAACTGCCAACGCCCGGGTGACCTTCCTAGGAGAGTGGGCGCCCTCTCCCCAGCTCTGCCTCAGGGCCCACCCCGCCCGGCAGCCCCTGCCCTGACCTGGGACACAGGGTCTGTGTGGGTGTCATCCGTCAGGCCTGTGCGCCACAGCAGCGGGTCCTCAAGACGGCTCAGGTCCCACACCAACACCTCACCACTGTACAGCCCTCCTGCAGGGACAGTGGACCTGGGCAGAGGCTCAGCCCCACCCCCAGCCTGACTTCCTGGCCAAACACCCGCCCCAGCCCACCTACAGGGCCAGGGCCAGGGCCAGGCGGCAGAGCCACTTGGCTGGAAGTCATCCCCACAGAGGGAGAGTCCTAGCCCCCAGCTCCCCTGTTGTACCCCAGGGAGCTTTGCCGGACACCCCTGCCCTGCACCTGGCAGCTCCCTCCAGCGTTGCCTGCCCCCTACCACTGACGGCTTCCCAAGGGCACCTGCCTCTTCTGGCCTCTCCACAGCCCCCTGTCCTGGCCCCGACCCTGGCCCCCTTCCAGACTCCTCCCCCGAGTTCCACCCCTCAGGGCTCACTGCAGACCTTCACCTGGGCTCCAGACTGAGAGGGTCAGGGCCCGCCTTCCTGTCTCCGGGCCAAAGGGCCCATGGAAAGCTCCCTTGTGCCCTCTGCAGGGCGGGAAGCTGAGTCCTGAGAGGAGAGGAGGCGGACACAGCAGGCAGCTCACCTGCGACGTGGGAGGGCTGCGTGGGGTGGAAGGCCAGACACAGGACAGCGCTGGGGACCTCCACCACGGCCGACGGCTGCTGGGGACGCAGGTCTCGCCGGTCCAGGTTCCAGGCACACACGAAGGACTTAAGCGTGCTCCAGTCCCCATGGTCCAGCCTGTGCAGGGACAGGCTTGAGCCGGCTGTGCCCCTGGGTGGGGCTCCTATCACCCACCCCACCTCTCTCCCCACTAGCCCCGGACACACTCGCTGTGTCCTTGTCACCACCAGACACTACTCTGGGTATTGAAGTGGCCCACACTCCACTCTAGCACCCCAAGGGTGTGGCATTCTCTGGAAAATGGTCCCCAGGCACCAAGGACAGTCCATGCCATGCAGGATGGGGAAGCAGCTGGTGGGGCGGGCGAGGCAGGCAGGCCCAGGGCCTCCAGGCAGGGGGGAGGGTGATCCTGGCACTCAGCCCCACTGCCTGCTCTTCTGCCACTTGTTGTCAACCCTGCCCAGGAAGGCTTGAGAAGAGACTCCCAGGATGGCCAAGCTCTTAGAACCAGCCCTTCCCTGTGCAGCTACAGAGACAAGGCCCAAGGAGGGTCCTGGGGTGGCGAGCTGCCCCTCACCTGCCCCGCTGCCACTCACCGGCCGTAGGC
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TACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTCGGGTTTGAAGTGGGTGCAGCTGGCTCAGGCACCAGGTGCCATCTCTTACCCCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTCCCACATGAAGCCCTACGTGGACGGCAAGGGCCGCGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCACCCCTCGCTGCTTGCCCTGCGTCGCCTTGCTGCATGTCCGCTCCTCTGTGTGCTCTCACTTTCCACTGTAACCTTAAGCCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCACAATCATCATGTCACTGTGGGGACCCAGATCTGTGTCTTGAAGCAGCTGCCCTCATTCCGACTTCAGAAAATCGAAGCAGCTGGCTCCTCCCCTTGTTCTCTCTCCCACCCTCCCCCAAATCTGTTTTCATGTAAAAGACAAATAAATGATGACTTCCCCCAAAGCTTTGCTTTTCTTCATTTGGCTTGCGTCAGAAACACAAGGCTCGGCACAGCGAAGGCTTGCACCCGCCTCCCGGGACCCCTCAGGCCGCCACCTCTGCTGCCAGGCAGTCCAGGTCCTCAGCTTCCCGGGGCCCTTGTTCCGTGAACTCTGTGCTCAGCTGCCACACCTTCACTGTGCCCTGGGCATCGCCCGCAGCCAAGAGCTGAGTCTGCTGGCTGTTGAACTCCAGACAGTAGACAGGGCTTTCATCCTGGGTTTGCTTGATCAAAACTGTGGGTTTCTGGGAGCTTTTCTGGAGATCAAACAGCTGCACGTCACCTGCAAAGAGAGACAGATACGTGGAGTAAGAGAAACTCTAGAGACCAACCACATGGCAGGAGGAGGCTAATGCCCGGGTTCAATCCTGTTGTGTGCAGCCACAGTGGCTTTGAGTTGGGTTGCTGGAGGGAAGCCGTCCTTACCCCCATGTGTGGTCTTTTCCCCAACCCAGAACCCCAGGTACAAGCAGGGCCCAGACCACCCACCCCTTAAACAGATCCAGGCCTAGCGGCCCCTTCCTACCTTTCCCAGAGGCAGCTGCAAAAACCAAGGGCCGCACTGGGGACCAGCGCACAGCAAACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGCGCTCAGGAAGAGATTCCTAGACGGGATGCAGGGGGCCAGGCAAGGGAATCAGTGCTGGGGTCTGGGTGGTGCTGGCCCCCAACACCAGACCCCTCCTGGGCTGCCAGGCTCGTGAAGAGCCTCCCGGGTCCCTCAGCCTGGAGTTGGTCCTCTCATTAGAGAAGGGACGATGCCTGGGCCAACCACCAAAGACCTGAACACGGGTCTCAGAGTGGGCAGAAGGCAAGCACTTGAAGCAGTTTGTCATGAGGCTTGGCAGGCTAGAGACCCGCAGGGCAGGGACACCCTGGCCCCACTGTGCCCCAGGCCTGCCCTACGTACCTGTGGAAGGGGGAACAGCTCACAGAGTAGATGGGACCGCCGTGGGGGGAGAAGGTAAACTGTGCTGGGGCCCGCAGGGGCACGGAGCTGGGCATCCGCGTGAGGGCTGCCTCTCCAGCTGCCAGGGAACACTTGAGCGGGAAGCCGCCTTCCGTGCCCAGAATGAACAGCCTAGGGTCAAAGCTGGAGAAGACCACTGCCGTGGCGCCCACCTCGGTCTCCCCGCGGGGATGCTGTGGAGAAATGGCAGCAGCAGGGTCAGAGCCAAGGGCATCAGATGGCACTGTCCCAACAGAGCCAGAGAACAGGAGGGGAGATCACAGCAAGTCAGGCCCACTGCCACACCTTCCCACCCCCAAGGCTCACCGGCGCAGGCCAGGGCAGTTTCCGGGTGCCCACGTACCTTCTTGAGCTTGGTGCTCCGTGGCAGCTGCTGCATGACCAGGGCGAAGCCCTCTGTGAGCTGCAGCTGGCCTACCCCGATGCCCTGCCAGAGTAGCACCTTCCCGTCGGTGGCCACACTCAGCACCTGGAAGCGGTGGCTGTGCCCAGGCTCGGGCAGCCACACCACCTGAGTTAACAGCATGCAGGGCCAGGATGGAGACAAGGGACACCTGCCCAGGTGTCACGCTCCACCCCTACCCTCCCTCTCTTCCAGGAAAAAAAAAAATTCTCCGGGAGGCCCCAGAACCAGGCTCACCCACCAGGGGGCAGGCCTGGAGGGTTCCCAGGGCCCTCTCCAGTCCCAGAATCCCAGCGCTGCTCACTCGGTGCCTGCAGAGGAGGCTGGGAATGGCCACAGGGCCCTGGGAGTGGCTCCTGAGGGGGGTGACTCATGCTGCGGGAGCTCCGAGAATGCAGGAGGCAGCTGTCCAACTGCCAACGCCCGGGTGACCTTCCTAGGAGAGTGGGCGCCCTCTCCCCAGCTCTGCCTCAGGGCCCACCCCGCCCGGCAGCCCCTGCCCTGACCTGGGACACAGGGTCTGTGTGGGTGTCATCCGTCAGGCCTGTGCGCCACAGCAGCGGGTCCTCAAGACGGCTCAGGTCCCACACCAACACCTCACCACTGTACAGCCCTCCTGCAGGGACAGTGGACCTGGGCAGAGGCTCAGCCCCACCCCCAGCCTGACTTCCTGGCCAAACACCCGCCCCAGCCCACCTACAGGGCCAGGGCCAGGGCCAGGCGGCAGAGCCACTTGGCTGGAAGTCATCCCCACAGAGGGAGAGTCCTAGCCCCCAGCTCCCCTGTTGTACCCCAGGGAGCTTTGCCGGACACCCCTGCCCTGCACCTGGCAGCTCCCTCCAGCGTTGCCTGCCCCCTACCACTGACGGCTTCCCAAGGGCACCTGCCTCTTCTGGCCTCTCCACAGCCCCCTGTCCTGGCCCCGACCCTGGCCCCCTTCCAGACTCCTCCCCCGAGTTCCACCCCTCAGGGCTCACTGCAGACCTTCACCTGGGCTCCAGACTGAGAGGGTCAGGGCCCGCCTTCCTGTCTCCGGGCCAAAGGGCCCATGGAAAGCTCCCTTGTGCCCTCTGCAGGGCGGGAAGCTGAGTCCTGAGAGGAGAGGAGGCGGACACAGCAGGCAGCTCACCTGCGACGTGGGAGGGCTGCGTGGGGTGGAAGGCCAGACACAGGACAGCGCTGGGGACCTCCACCACGGCCGACGGCTGCTGGGGACGCAGGTCTCGCCGGTCCAGGTTCCAGGCACACACGAAGGACTTAAGCGTGCTCCAGTCCCCATGGTCCAGCCTGTGCAGGGACAGGCTTGAGCCGGCTGTGCCCCTGGGTGGGGCTCCTATCACCCACCCCACCTCTCTCCCCACTAGCCCCGGACACACTCGCTGTGTCCTTGTCACCACCAGACACTACTCTGGGTATTGAAGTGGCCCACACTCCACTCTAGCACCCCAAGGGTGTGGCATTCTCTGGAAAATGGTCCCCAGGCACCAAGGACAGTCCATGCCATGCAGGATGGGGAAGCAGCTGGTGGGGCGGGCGAGGCAGGCAGGCCCAGGGCCTCCAGGCAGGGGGGAGGGTGATCCTGGCACTCAGCCCCACTGCCTGCTCTTCTGCCACTTGTTGTCAACCCTGCCCAGGAAGGCTTGAGAAGAGACTCCCAGGATGGCCAAGCTCTTAGAACCAGCCCTTCCCTGTGCAGCTACAGAGACAAGGCCCAAGGAGGGTCCTGGGGTGGCGAGCTGCCCCTCACCTGCCCCGCTGCCACTCACCGGCCGTAGGC
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Subsets and Splits
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