Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
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_21600
This sequence variant lies in MTFMT (mitochondrial methionyl-tRNA formyltransferase) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Combined oxidative phosphorylation defect type 15
GCATGCCTATAGTCCTAGTTGCTCAGGAGGCTGAGGCAGCAGGATTGCTTGATCCCTGGAGTTTGAGACCAGCCTGGGCAACACAGCTAGCCCCTATCTCTTAAAAAAAATAAATAAAGATAGTTTATCACTGGCTATTAATTTGGCTGTTAGACATTAGCAAGGAAGATATGTCAGTTTGAAAGACGGGAGAACAAAATATGGCCTGTGTTTAGAGTCTAAATTTATTTTTCCCTAAAGCAAAGAAACGATACAGTTGCATATCAGGAATTTAATTACAATTACAGAAAAATTATATCATTAGTAATAGCATGAAAAAATCTCTATTTGTATATGAAAAGCATAAGGCAAAGAATTTATTTTCCATGGAAGTACAGTTAGGAAGTTCATAATTATTTATTTCTATAGTCCCTTCCTCAAAGGATAAGAGTTTTGCCTAGATTATCACCATAGGTGATTATAAGTAGGGCCAGGCGTAGTGGCTCATGCCTGTAATCACAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAAGAGATCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGTGTGCCTGTAGTCCTAGCTATTCGGGAGGCTGCAGCAGGAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCTGAGATCACCCCACTACATTCCAGCCGGGGTGACAGAGTGAGACCCCGTCTCAAGAAAAAAAAAAAAAAGTAAATGCAAGTATATTTGCATTCCCACAAGTCTGACATTTTATATCAAGCTCTGTAAACACTGGTCATAGGTTTTCATGAGCAATATGCTTTATTTAATTTTTTTTTGCTTTTTGTTTTTGTTAATTCTATTTCTAACCTAGGAGCTTTAGTAAAATGTTTATTGTGAAAAATTGCAAACATTCACAAAAACGGAGTGAACAGTCTAATGAATCATCATATACACATCATTCAGATTTTTTTTTTTTTTTTTTTGAGACAGGTTCTTGCTCCGTCGCCCAGGCTGGAATGCAGTGGTGCGATCTTGCCTCACTGCCGCCTCAACCTCCTAGGCTGAAGAGATCCTCTCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTATCACCACACCTGGCTAATTTTTTTATTTTTTATATGTTGCCCAGGCTGGTCTTGAACTCCCAGACTCAAGTGATCCTCCCACCTCGGCCTCCCAAAGTTTAGGATTACAGGCGTGAGCCACCATGCCTGGCTCAGATTTTAGAACTACCAAAGTTTTGCCACTCTTGTCTCATCTACTCTCTCTCTTGTTTTCTGAAGTAAGTTAAAGCAAATCCCAGATACCACGTTGTTCTTGCGAACTTGTGAATTATTCTTTTCTAAGGGGAAATTAGGTGGTAACAGGCAGAGACTGAATAAACTCCTCAAGTAATTCTAAATAATTGTTTCTAAAAAATTGTTCTAAATTGTTTCTAAATTGTTCTAAACTATAGGTATGACAGGAAAAAATGAATGTTTTAGGACAATTATATTGCATATTGATATACAATATATTCTTATTTCAGGTTCCAAAAATTTTTTGGCCATAGTTTAGAAACCAAGGCCAGCAAAACCAAGATTCAAAACAATTAACATACAAAAATCCATCTCTCATTTATACAATGTATTTTATAGAAATCCGAGTATTAATAATATAACCTATTTCAATTAACAAATTAAAATTCACATATGGACTTTAAAGAGACCCCGCATAAATACCAAAAGACATATGGTTTATGTTAGAAACCAGGAGAAAACAGAAAGGATATAAAAGCAGAAGAAGCACTCTGGAGTCACAGAAATTAGTGAGCACCACCCATTCATCCACTGCCCCCCAAACAGGCTGACATCAACATTTAAAAATCACAAAAATCTCAAGAAAGGAAAATATGTGCTACCTTTTAGGTCTAATTTGCATAATTGTTACTCCAGTAACTGTGTCTCCGTGAAGCACTGTATGGATTACAGGGGCTGGGCCACGCCATCTCGGGAGGCAACTGGGATGAACATTCAATATGCCACTGAGTTAGAAAATGTAGAAATTAGTATGTCAGTGGGCTTTACCACTTCGTTACCACTACCTAAGCTATTATGCTACTTTTCATTAGGAAACTTTCCCAGAAATTTGGAAAAACTGACAGTTAAATCTAAGTCTCGTATCACCTGAAAGGAAAAAAGTTACATGTAAATTCACTCTCTTACCATAAGAAACCAATGACATTTAATTAAAAACAGAGCTAGGACAACTATTTGCTGTTCTAAAGATGTTCTGTCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACTTGAGATCGGGAGTTTGAGACCAGCCGGACCAACATGGAGAAACCCCATCTCTACTAAAAAGACAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTGCAGTGAACCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCGCAAAATCTACAACAGCCCATGATGTCTGGGAGTTTTTAAATAAAATTTTAAAATGCATTTATGACTATAAGAGAACCACTCAAACCCTATTATGCATCTCATGAACAATTCTAATTTTATAGTTTAGTCACATAACTATCCTCACTTCACTTGGTTTACATACAGACTGCCTAAAATAAGCTTTTTCTTTTTTTTTTTAATTTTTTTTTGAGACAGGGTCTCGCTCTGTTGCCCAGGCTGGATGGCTCACTGCAGCCTCAACCTCCCAAGCTCAGGAGATCCTCAGCCCAATCCAACATTCACTGAGCGCACTCCATGTGCAGACACTGTTCTAAGTGTTAGGCATACAAGCAGCAGTGAACCAGACAGAAAAAAAAAATCCTGCCCTCAGAGAGTTTATGTACAAAAAGTGGGAGATAAGCAAGAAAAAACAAAATATGTACAAGGTTTGCCAGATGATGCTGAGGGCTATGGAGAAAATAAAGCAGAGAGGACTATGAGGGGGACATATTACAATTTTAGTAGTGATCAGAGAAAGCTTTACCAACAAGAAAACACTTGAACAAGAACATGAAGAAGGAAATAACTACGCATATATATGGGAGAAAAGCATTCCAGGCAGAGGGAACATTAAGTACAAAGATCTTGAAGAAGGTAAATGCTCGGCAAATTCAAGGCACAGCTGGGAGGCCAGTTAGGCCTGGCCTTTTATTGAGTAAGACAGAAAATTACCAGAGGATTTTGAGCAGAGTGACATGATCTGACTTGTTTTAAAAGGATCACTTTGAGGCAGGGTACAGTGGCTCATGCCTGTAATCCCAAAACTTTGGGAGGCCAAGGCAGGAAGATCACATGCAGCCAGGAGTTTGGGACCAGGTTGGGCCACATAGCGAGATCCCTGTCTCTAAAAAAAAAAAAAAAAAAAAAAGAGTTAGCTGGGTGTGTTGGCACATTCCTATAGTCTCAGCTACTCAGAAGGCTGAGGCAGGAAGATCCCTTGAGTCTGGGGCTGCAGTGAGTTATGATAGCAACACTGTACTCCAGCCTGGGTGACAGCAAGACTGTCTCTAAATTAAACAATAAAATAGAAATAAATAAATAAATAAATAAATACATTTTGGCTGCTGGATTGGTAAAAGACTGAGAGGGCCAAGGACAGAAGTAGGGACCAGTTAGGAGGCTTCTGTAGTAATGTAGGCGAGAGTGGCAGCAGCGGAAGTGATGAGATACAGACAGATTCTACACAGATTTTGAAGGCAGAGCCAATAGGATTTACTGATGGATTGGATATGGGACGTAAGAAATCAAGCATGACTCCAGGATTTTGGTGCAAGCAGCTAGAATGATGGAGTAGCCATTTATTGAGATAAAGATTTTAGGAGATGCTTTGGGTATCTTGAATGTAAAGTGGCTATCAGACATCCAGGAAGAGCTGTGGAGGCAGTAGGTATTAGGGGACTAGAGTTTGGGGACCGAGCTGAGCTA
GCATGCCTATAGTCCTAGTTGCTCAGGAGGCTGAGGCAGCAGGATTGCTTGATCCCTGGAGTTTGAGACCAGCCTGGGCAACACAGCTAGCCCCTATCTCTTAAAAAAAATAAATAAAGATAGTTTATCACTGGCTATTAATTTGGCTGTTAGACATTAGCAAGGAAGATATGTCAGTTTGAAAGACGGGAGAACAAAATATGGCCTGTGTTTAGAGTCTAAATTTATTTTTCCCTAAAGCAAAGAAACGATACAGTTGCATATCAGGAATTTAATTACAATTACAGAAAAATTATATCATTAGTAATAGCATGAAAAAATCTCTATTTGTATATGAAAAGCATAAGGCAAAGAATTTATTTTCCATGGAAGTACAGTTAGGAAGTTCATAATTATTTATTTCTATAGTCCCTTCCTCAAAGGATAAGAGTTTTGCCTAGATTATCACCATAGGTGATTATAAGTAGGGCCAGGCGTAGTGGCTCATGCCTGTAATCACAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAAGAGATCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGTGTGCCTGTAGTCCTAGCTATTCGGGAGGCTGCAGCAGGAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCTGAGATCACCCCACTACATTCCAGCCGGGGTGACAGAGTGAGACCCCGTCTCAAGAAAAAAAAAAAAAAGTAAATGCAAGTATATTTGCATTCCCACAAGTCTGACATTTTATATCAAGCTCTGTAAACACTGGTCATAGGTTTTCATGAGCAATATGCTTTATTTAATTTTTTTTTGCTTTTTGTTTTTGTTAATTCTATTTCTAACCTAGGAGCTTTAGTAAAATGTTTATTGTGAAAAATTGCAAACATTCACAAAAACGGAGTGAACAGTCTAATGAATCATCATATACACATCATTCAGATTTTTTTTTTTTTTTTTTTGAGACAGGTTCTTGCTCCGTCGCCCAGGCTGGAATGCAGTGGTGCGATCTTGCCTCACTGCCGCCTCAACCTCCTAGGCTGAAGAGATCCTCTCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTATCACCACACCTGGCTAATTTTTTTATTTTTTATATGTTGCCCAGGCTGGTCTTGAACTCCCAGACTCAAGTGATCCTCCCACCTCGGCCTCCCAAAGTTTAGGATTACAGGCGTGAGCCACCATGCCTGGCTCAGATTTTAGAACTACCAAAGTTTTGCCACTCTTGTCTCATCTACTCTCTCTCTTGTTTTCTGAAGTAAGTTAAAGCAAATCCCAGATACCACGTTGTTCTTGCGAACTTGTGAATTATTCTTTTCTAAGGGGAAATTAGGTGGTAACAGGCAGAGACTGAATAAACTCCTCAAGTAATTCTAAATAATTGTTTCTAAAAAATTGTTCTAAATTGTTTCTAAATTGTTCTAAACTATAGGTATGACAGGAAAAAATGAATGTTTTAGGACAATTATATTGCATATTGATATACAATATATTCTTATTTCAGGTTCCAAAAATTTTTTGGCCATAGTTTAGAAACCAAGGCCAGCAAAACCAAGATTCAAAACAATTAACATACAAAAATCCATCTCTCATTTATACAATGTATTTTATAGAAATCCGAGTATTAATAATATAACCTATTTCAATTAACAAATTAAAATTCACATATGGACTTTAAAGAGACCCCGCATAAATACCAAAAGACATATGGTTTATGTTAGAAACCAGGAGAAAACAGAAAGGATATAAAAGCAGAAGAAGCACTCTGGAGTCACAGAAATTAGTGAGCACCACCCATTCATCCACTGCCCCCCAAACAGGCTGACATCAACATTTAAAAATCACAAAAATCTCAAGAAAGGAAAATATGTGCTACCTTTTAGGTCTAATTTGCATAATTGTTACTCCAGTAACTGTGTCTCCGTGAAGCACTGTATGGATTACAGGGGCTGGGCCACGCCATCTCAGGAGGCAACTGGGATGAACATTCAATATGCCACTGAGTTAGAAAATGTAGAAATTAGTATGTCAGTGGGCTTTACCACTTCGTTACCACTACCTAAGCTATTATGCTACTTTTCATTAGGAAACTTTCCCAGAAATTTGGAAAAACTGACAGTTAAATCTAAGTCTCGTATCACCTGAAAGGAAAAAAGTTACATGTAAATTCACTCTCTTACCATAAGAAACCAATGACATTTAATTAAAAACAGAGCTAGGACAACTATTTGCTGTTCTAAAGATGTTCTGTCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACTTGAGATCGGGAGTTTGAGACCAGCCGGACCAACATGGAGAAACCCCATCTCTACTAAAAAGACAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTGCAGTGAACCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCGCAAAATCTACAACAGCCCATGATGTCTGGGAGTTTTTAAATAAAATTTTAAAATGCATTTATGACTATAAGAGAACCACTCAAACCCTATTATGCATCTCATGAACAATTCTAATTTTATAGTTTAGTCACATAACTATCCTCACTTCACTTGGTTTACATACAGACTGCCTAAAATAAGCTTTTTCTTTTTTTTTTTAATTTTTTTTTGAGACAGGGTCTCGCTCTGTTGCCCAGGCTGGATGGCTCACTGCAGCCTCAACCTCCCAAGCTCAGGAGATCCTCAGCCCAATCCAACATTCACTGAGCGCACTCCATGTGCAGACACTGTTCTAAGTGTTAGGCATACAAGCAGCAGTGAACCAGACAGAAAAAAAAAATCCTGCCCTCAGAGAGTTTATGTACAAAAAGTGGGAGATAAGCAAGAAAAAACAAAATATGTACAAGGTTTGCCAGATGATGCTGAGGGCTATGGAGAAAATAAAGCAGAGAGGACTATGAGGGGGACATATTACAATTTTAGTAGTGATCAGAGAAAGCTTTACCAACAAGAAAACACTTGAACAAGAACATGAAGAAGGAAATAACTACGCATATATATGGGAGAAAAGCATTCCAGGCAGAGGGAACATTAAGTACAAAGATCTTGAAGAAGGTAAATGCTCGGCAAATTCAAGGCACAGCTGGGAGGCCAGTTAGGCCTGGCCTTTTATTGAGTAAGACAGAAAATTACCAGAGGATTTTGAGCAGAGTGACATGATCTGACTTGTTTTAAAAGGATCACTTTGAGGCAGGGTACAGTGGCTCATGCCTGTAATCCCAAAACTTTGGGAGGCCAAGGCAGGAAGATCACATGCAGCCAGGAGTTTGGGACCAGGTTGGGCCACATAGCGAGATCCCTGTCTCTAAAAAAAAAAAAAAAAAAAAAAGAGTTAGCTGGGTGTGTTGGCACATTCCTATAGTCTCAGCTACTCAGAAGGCTGAGGCAGGAAGATCCCTTGAGTCTGGGGCTGCAGTGAGTTATGATAGCAACACTGTACTCCAGCCTGGGTGACAGCAAGACTGTCTCTAAATTAAACAATAAAATAGAAATAAATAAATAAATAAATAAATACATTTTGGCTGCTGGATTGGTAAAAGACTGAGAGGGCCAAGGACAGAAGTAGGGACCAGTTAGGAGGCTTCTGTAGTAATGTAGGCGAGAGTGGCAGCAGCGGAAGTGATGAGATACAGACAGATTCTACACAGATTTTGAAGGCAGAGCCAATAGGATTTACTGATGGATTGGATATGGGACGTAAGAAATCAAGCATGACTCCAGGATTTTGGTGCAAGCAGCTAGAATGATGGAGTAGCCATTTATTGAGATAAAGATTTTAGGAGATGCTTTGGGTATCTTGAATGTAAAGTGGCTATCAGACATCCAGGAAGAGCTGTGGAGGCAGTAGGTATTAGGGGACTAGAGTTTGGGGACCGAGCTGAGCTA
Task1_train_21601
This sequence variant lies in KBTBD13 (kelch repeat and BTB domain containing 13) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Nemaline myopathy 6
GTGAGTGCACCAGTCGACACTCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAGAACCTGTATGTGGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACTTTTGTATCTAGCTCAGGGATTGTAAACCCACCAATCAGCGCCCTGTCAAAACAGGCCACTTGGCTCTACCAATCAGCAGGATGTGAGTGGGGCCAGATAAGAGAATAAACGCAGGCTACCCGAGCCAGCAGTGGCAACCCGCTCATATCCCCTTCCACACTGTGGACGCTTTATTCTTTTCCTCTTTGCAATAAATCTTGCTGCTGCTCACTCTTTTGGGTCCACACTGCTTTTATGAGCTGTAACACTCACCGTGAAAGTCTGCAGCTTCACTCCTGAGGCCAGCGAGACCACAAGCCCACTGGGAGGAACGAACAACTCCAGACACGCTGCCTTAAGAGCTGTAACACTCACAGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCGAGACCATGAACCCACCAGAAGGAAGAAACTCCAAACACATCTGAACATCAGAAAGGACAGACTCCAGACACGCTACCTTAAGAGCTGTAACACTCACCTCGAGGGTCCGCGGCTTCATTCTTGAAGTCAGACCAAGAACCCACCAATTCTGGACCCATTATTACCATTTCTTCTAAGGATATGAGTGATCACACAGGTCTCCAGATGCCCTCCGGGCCTGCAGCCATACAGCCTGCGGGCCACCACATCACATGAGCCATACTATCTTTAGCCAGGGAGAGATATTTATAGCCCCCAGGGAAGTTTTTTGCTCCAGGGGAGCCCCAGAGTTGGTGGCTGGCTAACCCAAGGCCCCAGCGGCAGCCTCCGCCCGGCCAGCTCGCCATGGCACGGGGTCCACAGACCCTGGTGCAGGTGTGGGTGGGCGGCCAGCTCTTCCAAGCCGACCGCGCCCTGCTGGTGGAGCACTGTGGCTTCTTCCGAGGCCTCTTCCGCTCCGGCATGCGGGAGACCCGCGCAGCAGAGGTGCGCCTGGGCGTTCTGAGCGCGGGAGGTTTCCGCGCCACGCTGCAGGTGCTGCGCGGCGACCGGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGGCCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCTCGCTTTCTGGAGCACAACCTCACGTCGGACAACTGCGCATTGCTGTGCGACGCGGCCGCCGCCTTCGGCCTGCGCGACGTGTTCCACAGTGCCGCGCTCTTCATCTGCGACGGCGAGCGCGAGCTGGCGGCCGAACTGGCGCTGCCTGAGGCCCGCGCCTACGTGGCGGCCCTGCGGCCCAGCAGCTACGCGGCCGTGAGCACGCACACGCCCGCGCCCGGCTTCCTGGAGGACGCCTCGCGCACGCTGTGTTACCTGGACGAGGAAGAGGACGCGTGGCGCACGCTGGCTGCGCTGCCCCTGGAGGCCAGCACGTTGCTGGCCGGGGTGGCCACGCTGGGCAACAAGCTTTACATCGTGGGGGGCGTGCGCGGCGCCAGCAAGGAGGTGGTAGAGCTGGGCTTCTGCTACGACCCCGACGGCGGCACGTGGCACGAGTTCCCCAGCCCGCACCAGCCGCGCTATGACACAGCGCTGGCCGGCTTCGACGGCCGCCTCTACGCCATCGGCGGCGAATTCCAGAGGACGCCCATCAGCTCCGTGGAGCGCTACGACCCAGCCGCGGGCTGCTGGAGTTTCGTGGCCGACCTGCCGCAGCCGGCCGCCGGCGTGCCCTGCGCCCAGGCTTGTGGCCGTCTCTTCGTGTGCCTGTGGCGGCCGGCCGACACCACCGCCGTGGTGGAGTACGCAGTGCGGACCGACGCGTGGCTGCCAGTGGCCGAGCTGCGGCGTCCGCAGAGCTATGGCCACTGCATGGTGGCCCACCGCGACAGCCTCTATGTGGTGCGCAACGGACCTTCCGACGACTTCCTGCACTGCGCCATCGACTGTCTCAACCTGGCCACGGGCCAGTGGACGGCGCTGCCCGGCCAGTTCGTCAACAGCAAGGGAGCGCTCTTCACGGCCGTGGTGCGCGGTGACACCGTCTATACGGTCAACCGCATGTTCACGCTGCTCTACGCCATCGAGGGCGGCACCTGGCGGCTGCTCAGGGAGAAAGCCGGCTTCCCGCGGCCCGGCTCCTTGCAGACCTTTCTCCTAAGGCTGCCTCCTGGCGCTCCTGGGCCTGTGACTTCGACAACGGCAGAACTGTGACCTCTGGGCTGGCTTTAGGAGGGAGGAGACGCCGCGACTCCTCCCTGAGCTATGGCTGAGTGTGTGAGGCCGGCCTTAGAAGTAGCTGGCAACTTCCCTCTTTCTACTGAGACACCCAGGTTTGGTGCCTTCTGGTGGTGTGGACATGTTCAAGAAGCTCAGGGAGCAGTGATGATGCCCTCAAATTACTTGGGCTCTGCTGAGAGCTGGTGGGTCACAATGTCAGTGAACAGGGTAGGGGGAGTTGGGATTTGAATAATCCGGGCTTATATGTAATGGGCTAGTGATTGAGCATCGCTGGGAGCGACTTAAATGATGTTAATCAAACTGCAAGTAGTAGGCAAGAATTAGGCACCTACTGTATGCCCAATACAGTGTTATGCGTAATGAGAGCCGTAGTTGCCACACAGGGATCCAGGAAGCTTAAAGGATAACCCAGAAAACAATCTTAACAGTTACAGGACAACAAAAAGGTTTACACACAACTTGATCCACAGAGTTGAAGGCAACATGCAAAAAAATTTAAAACCGCATACAATATAATAAAATAAAGTGCTGAAGAAATCAGGGCAAAGGGAAAATAGGAAGAGAAAAAATATATAACTCCAGAAAAGAAGAGAGTGTGCAAACTCTATGGAGGAGATGAGCAGGATACCATTAGCTGCTGAAAGGGGAGGCTTAGACCATGGAGGCTGAGAGCTCAGAAGAGAAGCAGGGTTGGGGAAGGCTGGAGCAGATGGGGAGGGTCTCTGCAAGTCCAGCCATACCAGCAGAGCAGCAGTAGTTGGGGCATCTAGAGAGGGGATGAGACTGGGCCAGCTTGCAGCAGATAATGACTGAGCTGAGCCTGGAGTGAGACCTGTGGGGGCGAGAGGATTCTTCACGTTCCTTTTTGGAACCCTTAGGGGAGCACCCAGGTGTAAGCCCTTGCCCACCCTGTTTTTGCCATCACCACGGGGCAGTGGACTGTTAACCCACATGACTTCAGGTCAGTTGAGGTATGAGCCAAATCCTGCCTCATCTTCCTCAGTTGTAGCCCCTCCTCCACATTCTACAGGTTTGTTCTCTTCCTGTCCTATTCTGCCCTTTGCAATTCCCTGGGCTGGAATGCCTAGTCTCCTCCTCTCTCCCTGTCAGTGCTCTACCATCCTCTGTGCAGCATTGGCTCACCCAGCTCTTCGTTTTCCTGACCTGGGCTGCCTGCATTGCTCATTGGACCCCTGGCTGTAACATCATTGTGTGTGCACAACCACGTGTGTGGATTGTAAGGGCAGAGATCCTGTTAAGTGAGCTGGGGGACTTCCCTGTCCCAGATTAAAATGATGATGCCTTGAAAGAACCCAGGCTACAGAGGCCACTAGTTAGGAACCTAGTGCTGACCTCTGTTGTTGGATGAGGACTCTCGTTCCTTCATCAAAATCCCCAGCTCTGGCTTCTGGGCAGATGCCTGTCCCAGCCCTTTCCAGCCTCTCCATGGCCTTGGGAAGACTTCTCTGGGTGGTTCTCATTGGTCTCCATCCCCCAGGACCTGAGGCCCATGGGGAATCTTGGCCTCGTCAGAAGTGGAGAATGCAGTGTCAGCATGACACCTCCGGGGCATGGAGGCTCGCGCCAGGGCTGCACCTAGCTGCCTCTTCTCCTGGCCTATGTCCCAACCCTGGAGAATGCTGCCCTCAGAAGCCTGGGACCTTCCAGCCCTGGAGTAGCCTAGTCTGATAAGTCTCAACAATAAACCCTGACTTTTGCATCTTGTGAATTATGTGCAAGGTACTTTCACATCTGACTTCCCCCTCCCGACCTACCTTGGGCCTGGGAGTTGGGTACCCTCTTCTTGTGGCAG
GTGAGTGCACCAGTCGACACTCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAGAACCTGTATGTGGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACTTTTGTATCTAGCTCAGGGATTGTAAACCCACCAATCAGCGCCCTGTCAAAACAGGCCACTTGGCTCTACCAATCAGCAGGATGTGAGTGGGGCCAGATAAGAGAATAAACGCAGGCTACCCGAGCCAGCAGTGGCAACCCGCTCATATCCCCTTCCACACTGTGGACGCTTTATTCTTTTCCTCTTTGCAATAAATCTTGCTGCTGCTCACTCTTTTGGGTCCACACTGCTTTTATGAGCTGTAACACTCACCGTGAAAGTCTGCAGCTTCACTCCTGAGGCCAGCGAGACCACAAGCCCACTGGGAGGAACGAACAACTCCAGACACGCTGCCTTAAGAGCTGTAACACTCACAGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCGAGACCATGAACCCACCAGAAGGAAGAAACTCCAAACACATCTGAACATCAGAAAGGACAGACTCCAGACACGCTACCTTAAGAGCTGTAACACTCACCTCGAGGGTCCGCGGCTTCATTCTTGAAGTCAGACCAAGAACCCACCAATTCTGGACCCATTATTACCATTTCTTCTAAGGATATGAGTGATCACACAGGTCTCCAGATGCCCTCCGGGCCTGCAGCCATACAGCCTGCGGGCCACCACATCACATGAGCCATACTATCTTTAGCCAGGGAGAGATATTTATAGCCCCCAGGGAAGTTTTTTGCTCCAGGGGAGCCCCAGAGTTGGTGGCTGGCTAACCCAAGGCCCCAGCGGCAGCCTCCGCCCGGCCAGCTCGCCATGGCACGGGGTCCACAGACCCTGGTGCAGGTGTGGGTGGGCGGCCAGCTCTTCCAAGCCGACCGCGCCCTGCTGGTGGAGCACTGTGGCTTCTTCCGAGGCCTCTTCCGCTCCGGCATGCGGGAGACCCGCGCAGCAGAGGTGCGCCTGGGCGTTCTGAGCGCGGGAGGTTTCCGCGCCACGCTGCAGGTGCTGCGCGGCGACCGGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGGCCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCTCGCTTTCTGGAGCACAACCTCACGTCGGACAACTGCGCATTGCTGTGCGACGCGGCCGCCGCCTTCGGCCTGCGCGACGTGTTCCACAGTGCCGCGCTCTTCATCTGCGACGGCGAGCGCGAGCTGGCGGCCGAACTGGCGCTGCCTGAGGCCCGCGCCTACGTGGCGGCCCTGCGGCCCAGCAGCTACGCGGCCGTGAGCACGCACACGCCCGCGCCCGGCTTCCTGGAGGACGCCTCGCGCACGCTGTGTTACCTGGACGAGGAAGAGGACGCGTGGCGCACGCTGGCTGCGCTGCCCCTGGAGGCCAGCACGTTGCTGGCCGGGGTGGCCACGCTGGGCAACAAGCTTTACATCGTGGGGGGCGTGCGCGGCGCCAGCAAGGAGGTGGTAGAGCTGGGCTTCTGCTACGACCCCGACGGCGGCACGTGGCACGAGTTCCCCAGCCCGCACCAGCCGCGCTATGACACAGCGCTGGCCGGCTTCGACGGCCGCCTCTACGCCATCGGCGGCGAATTCCAGAGGACGCCCATCAGCTCCGTGGAGCGCTACGACCCAGCCGCGGGCTGCTGGAGTTTCGTGGCCGACCTGCCGCAGCCGGCCGCCGGCGTGCCCTGCGCCCAGGCTTGTGGCCGTCTCTTCGTGTGCCTGTGGCGGCCGGCCGACACCACCGCCGTGGTGGAGTACGCAGTGCGGACCGACGCGTGGCTGCCAGTGGCCGAGCTGCGGCGTCCGCAGAGCTATGGCCACTGCATGGTGGCCCACCGCGACAGCCTCTATGTGGTGCGCAACGGACCTTCCGACGACTTCCTGCACTGCGCCATCGACTGTCTCAACCTGGCCACGGGCCAGTGGACGGCGCTGCCCGGCCAGTTCGTCAACAGCAACGGAGCGCTCTTCACGGCCGTGGTGCGCGGTGACACCGTCTATACGGTCAACCGCATGTTCACGCTGCTCTACGCCATCGAGGGCGGCACCTGGCGGCTGCTCAGGGAGAAAGCCGGCTTCCCGCGGCCCGGCTCCTTGCAGACCTTTCTCCTAAGGCTGCCTCCTGGCGCTCCTGGGCCTGTGACTTCGACAACGGCAGAACTGTGACCTCTGGGCTGGCTTTAGGAGGGAGGAGACGCCGCGACTCCTCCCTGAGCTATGGCTGAGTGTGTGAGGCCGGCCTTAGAAGTAGCTGGCAACTTCCCTCTTTCTACTGAGACACCCAGGTTTGGTGCCTTCTGGTGGTGTGGACATGTTCAAGAAGCTCAGGGAGCAGTGATGATGCCCTCAAATTACTTGGGCTCTGCTGAGAGCTGGTGGGTCACAATGTCAGTGAACAGGGTAGGGGGAGTTGGGATTTGAATAATCCGGGCTTATATGTAATGGGCTAGTGATTGAGCATCGCTGGGAGCGACTTAAATGATGTTAATCAAACTGCAAGTAGTAGGCAAGAATTAGGCACCTACTGTATGCCCAATACAGTGTTATGCGTAATGAGAGCCGTAGTTGCCACACAGGGATCCAGGAAGCTTAAAGGATAACCCAGAAAACAATCTTAACAGTTACAGGACAACAAAAAGGTTTACACACAACTTGATCCACAGAGTTGAAGGCAACATGCAAAAAAATTTAAAACCGCATACAATATAATAAAATAAAGTGCTGAAGAAATCAGGGCAAAGGGAAAATAGGAAGAGAAAAAATATATAACTCCAGAAAAGAAGAGAGTGTGCAAACTCTATGGAGGAGATGAGCAGGATACCATTAGCTGCTGAAAGGGGAGGCTTAGACCATGGAGGCTGAGAGCTCAGAAGAGAAGCAGGGTTGGGGAAGGCTGGAGCAGATGGGGAGGGTCTCTGCAAGTCCAGCCATACCAGCAGAGCAGCAGTAGTTGGGGCATCTAGAGAGGGGATGAGACTGGGCCAGCTTGCAGCAGATAATGACTGAGCTGAGCCTGGAGTGAGACCTGTGGGGGCGAGAGGATTCTTCACGTTCCTTTTTGGAACCCTTAGGGGAGCACCCAGGTGTAAGCCCTTGCCCACCCTGTTTTTGCCATCACCACGGGGCAGTGGACTGTTAACCCACATGACTTCAGGTCAGTTGAGGTATGAGCCAAATCCTGCCTCATCTTCCTCAGTTGTAGCCCCTCCTCCACATTCTACAGGTTTGTTCTCTTCCTGTCCTATTCTGCCCTTTGCAATTCCCTGGGCTGGAATGCCTAGTCTCCTCCTCTCTCCCTGTCAGTGCTCTACCATCCTCTGTGCAGCATTGGCTCACCCAGCTCTTCGTTTTCCTGACCTGGGCTGCCTGCATTGCTCATTGGACCCCTGGCTGTAACATCATTGTGTGTGCACAACCACGTGTGTGGATTGTAAGGGCAGAGATCCTGTTAAGTGAGCTGGGGGACTTCCCTGTCCCAGATTAAAATGATGATGCCTTGAAAGAACCCAGGCTACAGAGGCCACTAGTTAGGAACCTAGTGCTGACCTCTGTTGTTGGATGAGGACTCTCGTTCCTTCATCAAAATCCCCAGCTCTGGCTTCTGGGCAGATGCCTGTCCCAGCCCTTTCCAGCCTCTCCATGGCCTTGGGAAGACTTCTCTGGGTGGTTCTCATTGGTCTCCATCCCCCAGGACCTGAGGCCCATGGGGAATCTTGGCCTCGTCAGAAGTGGAGAATGCAGTGTCAGCATGACACCTCCGGGGCATGGAGGCTCGCGCCAGGGCTGCACCTAGCTGCCTCTTCTCCTGGCCTATGTCCCAACCCTGGAGAATGCTGCCCTCAGAAGCCTGGGACCTTCCAGCCCTGGAGTAGCCTAGTCTGATAAGTCTCAACAATAAACCCTGACTTTTGCATCTTGTGAATTATGTGCAAGGTACTTTCACATCTGACTTCCCCCTCCCGACCTACCTTGGGCCTGGGAGTTGGGTACCCTCTTCTTGTGGCAG
Task1_train_21602
Here’s a variant in KBTBD13 (kelch repeat and BTB domain containing 13) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Nemaline myopathy 6
GAACCTGTATGTGGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACTTTTGTATCTAGCTCAGGGATTGTAAACCCACCAATCAGCGCCCTGTCAAAACAGGCCACTTGGCTCTACCAATCAGCAGGATGTGAGTGGGGCCAGATAAGAGAATAAACGCAGGCTACCCGAGCCAGCAGTGGCAACCCGCTCATATCCCCTTCCACACTGTGGACGCTTTATTCTTTTCCTCTTTGCAATAAATCTTGCTGCTGCTCACTCTTTTGGGTCCACACTGCTTTTATGAGCTGTAACACTCACCGTGAAAGTCTGCAGCTTCACTCCTGAGGCCAGCGAGACCACAAGCCCACTGGGAGGAACGAACAACTCCAGACACGCTGCCTTAAGAGCTGTAACACTCACAGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCGAGACCATGAACCCACCAGAAGGAAGAAACTCCAAACACATCTGAACATCAGAAAGGACAGACTCCAGACACGCTACCTTAAGAGCTGTAACACTCACCTCGAGGGTCCGCGGCTTCATTCTTGAAGTCAGACCAAGAACCCACCAATTCTGGACCCATTATTACCATTTCTTCTAAGGATATGAGTGATCACACAGGTCTCCAGATGCCCTCCGGGCCTGCAGCCATACAGCCTGCGGGCCACCACATCACATGAGCCATACTATCTTTAGCCAGGGAGAGATATTTATAGCCCCCAGGGAAGTTTTTTGCTCCAGGGGAGCCCCAGAGTTGGTGGCTGGCTAACCCAAGGCCCCAGCGGCAGCCTCCGCCCGGCCAGCTCGCCATGGCACGGGGTCCACAGACCCTGGTGCAGGTGTGGGTGGGCGGCCAGCTCTTCCAAGCCGACCGCGCCCTGCTGGTGGAGCACTGTGGCTTCTTCCGAGGCCTCTTCCGCTCCGGCATGCGGGAGACCCGCGCAGCAGAGGTGCGCCTGGGCGTTCTGAGCGCGGGAGGTTTCCGCGCCACGCTGCAGGTGCTGCGCGGCGACCGGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGGCCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCTCGCTTTCTGGAGCACAACCTCACGTCGGACAACTGCGCATTGCTGTGCGACGCGGCCGCCGCCTTCGGCCTGCGCGACGTGTTCCACAGTGCCGCGCTCTTCATCTGCGACGGCGAGCGCGAGCTGGCGGCCGAACTGGCGCTGCCTGAGGCCCGCGCCTACGTGGCGGCCCTGCGGCCCAGCAGCTACGCGGCCGTGAGCACGCACACGCCCGCGCCCGGCTTCCTGGAGGACGCCTCGCGCACGCTGTGTTACCTGGACGAGGAAGAGGACGCGTGGCGCACGCTGGCTGCGCTGCCCCTGGAGGCCAGCACGTTGCTGGCCGGGGTGGCCACGCTGGGCAACAAGCTTTACATCGTGGGGGGCGTGCGCGGCGCCAGCAAGGAGGTGGTAGAGCTGGGCTTCTGCTACGACCCCGACGGCGGCACGTGGCACGAGTTCCCCAGCCCGCACCAGCCGCGCTATGACACAGCGCTGGCCGGCTTCGACGGCCGCCTCTACGCCATCGGCGGCGAATTCCAGAGGACGCCCATCAGCTCCGTGGAGCGCTACGACCCAGCCGCGGGCTGCTGGAGTTTCGTGGCCGACCTGCCGCAGCCGGCCGCCGGCGTGCCCTGCGCCCAGGCTTGTGGCCGTCTCTTCGTGTGCCTGTGGCGGCCGGCCGACACCACCGCCGTGGTGGAGTACGCAGTGCGGACCGACGCGTGGCTGCCAGTGGCCGAGCTGCGGCGTCCGCAGAGCTATGGCCACTGCATGGTGGCCCACCGCGACAGCCTCTATGTGGTGCGCAACGGACCTTCCGACGACTTCCTGCACTGCGCCATCGACTGTCTCAACCTGGCCACGGGCCAGTGGACGGCGCTGCCCGGCCAGTTCGTCAACAGCAAGGGAGCGCTCTTCACGGCCGTGGTGCGCGGTGACACCGTCTATACGGTCAACCGCATGTTCACGCTGCTCTACGCCATCGAGGGCGGCACCTGGCGGCTGCTCAGGGAGAAAGCCGGCTTCCCGCGGCCCGGCTCCTTGCAGACCTTTCTCCTAAGGCTGCCTCCTGGCGCTCCTGGGCCTGTGACTTCGACAACGGCAGAACTGTGACCTCTGGGCTGGCTTTAGGAGGGAGGAGACGCCGCGACTCCTCCCTGAGCTATGGCTGAGTGTGTGAGGCCGGCCTTAGAAGTAGCTGGCAACTTCCCTCTTTCTACTGAGACACCCAGGTTTGGTGCCTTCTGGTGGTGTGGACATGTTCAAGAAGCTCAGGGAGCAGTGATGATGCCCTCAAATTACTTGGGCTCTGCTGAGAGCTGGTGGGTCACAATGTCAGTGAACAGGGTAGGGGGAGTTGGGATTTGAATAATCCGGGCTTATATGTAATGGGCTAGTGATTGAGCATCGCTGGGAGCGACTTAAATGATGTTAATCAAACTGCAAGTAGTAGGCAAGAATTAGGCACCTACTGTATGCCCAATACAGTGTTATGCGTAATGAGAGCCGTAGTTGCCACACAGGGATCCAGGAAGCTTAAAGGATAACCCAGAAAACAATCTTAACAGTTACAGGACAACAAAAAGGTTTACACACAACTTGATCCACAGAGTTGAAGGCAACATGCAAAAAAATTTAAAACCGCATACAATATAATAAAATAAAGTGCTGAAGAAATCAGGGCAAAGGGAAAATAGGAAGAGAAAAAATATATAACTCCAGAAAAGAAGAGAGTGTGCAAACTCTATGGAGGAGATGAGCAGGATACCATTAGCTGCTGAAAGGGGAGGCTTAGACCATGGAGGCTGAGAGCTCAGAAGAGAAGCAGGGTTGGGGAAGGCTGGAGCAGATGGGGAGGGTCTCTGCAAGTCCAGCCATACCAGCAGAGCAGCAGTAGTTGGGGCATCTAGAGAGGGGATGAGACTGGGCCAGCTTGCAGCAGATAATGACTGAGCTGAGCCTGGAGTGAGACCTGTGGGGGCGAGAGGATTCTTCACGTTCCTTTTTGGAACCCTTAGGGGAGCACCCAGGTGTAAGCCCTTGCCCACCCTGTTTTTGCCATCACCACGGGGCAGTGGACTGTTAACCCACATGACTTCAGGTCAGTTGAGGTATGAGCCAAATCCTGCCTCATCTTCCTCAGTTGTAGCCCCTCCTCCACATTCTACAGGTTTGTTCTCTTCCTGTCCTATTCTGCCCTTTGCAATTCCCTGGGCTGGAATGCCTAGTCTCCTCCTCTCTCCCTGTCAGTGCTCTACCATCCTCTGTGCAGCATTGGCTCACCCAGCTCTTCGTTTTCCTGACCTGGGCTGCCTGCATTGCTCATTGGACCCCTGGCTGTAACATCATTGTGTGTGCACAACCACGTGTGTGGATTGTAAGGGCAGAGATCCTGTTAAGTGAGCTGGGGGACTTCCCTGTCCCAGATTAAAATGATGATGCCTTGAAAGAACCCAGGCTACAGAGGCCACTAGTTAGGAACCTAGTGCTGACCTCTGTTGTTGGATGAGGACTCTCGTTCCTTCATCAAAATCCCCAGCTCTGGCTTCTGGGCAGATGCCTGTCCCAGCCCTTTCCAGCCTCTCCATGGCCTTGGGAAGACTTCTCTGGGTGGTTCTCATTGGTCTCCATCCCCCAGGACCTGAGGCCCATGGGGAATCTTGGCCTCGTCAGAAGTGGAGAATGCAGTGTCAGCATGACACCTCCGGGGCATGGAGGCTCGCGCCAGGGCTGCACCTAGCTGCCTCTTCTCCTGGCCTATGTCCCAACCCTGGAGAATGCTGCCCTCAGAAGCCTGGGACCTTCCAGCCCTGGAGTAGCCTAGTCTGATAAGTCTCAACAATAAACCCTGACTTTTGCATCTTGTGAATTATGTGCAAGGTACTTTCACATCTGACTTCCCCCTCCCGACCTACCTTGGGCCTGGGAGTTGGGTACCCTCTTCTTGTGGCAGAAACTGACCCACTGGCCCAAAGCCACACAGCATAGCAACAAGAGTTCCTCAC
GAACCTGTATGTGGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACTTTTGTATCTAGCTCAGGGATTGTAAACCCACCAATCAGCGCCCTGTCAAAACAGGCCACTTGGCTCTACCAATCAGCAGGATGTGAGTGGGGCCAGATAAGAGAATAAACGCAGGCTACCCGAGCCAGCAGTGGCAACCCGCTCATATCCCCTTCCACACTGTGGACGCTTTATTCTTTTCCTCTTTGCAATAAATCTTGCTGCTGCTCACTCTTTTGGGTCCACACTGCTTTTATGAGCTGTAACACTCACCGTGAAAGTCTGCAGCTTCACTCCTGAGGCCAGCGAGACCACAAGCCCACTGGGAGGAACGAACAACTCCAGACACGCTGCCTTAAGAGCTGTAACACTCACAGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCGAGACCATGAACCCACCAGAAGGAAGAAACTCCAAACACATCTGAACATCAGAAAGGACAGACTCCAGACACGCTACCTTAAGAGCTGTAACACTCACCTCGAGGGTCCGCGGCTTCATTCTTGAAGTCAGACCAAGAACCCACCAATTCTGGACCCATTATTACCATTTCTTCTAAGGATATGAGTGATCACACAGGTCTCCAGATGCCCTCCGGGCCTGCAGCCATACAGCCTGCGGGCCACCACATCACATGAGCCATACTATCTTTAGCCAGGGAGAGATATTTATAGCCCCCAGGGAAGTTTTTTGCTCCAGGGGAGCCCCAGAGTTGGTGGCTGGCTAACCCAAGGCCCCAGCGGCAGCCTCCGCCCGGCCAGCTCGCCATGGCACGGGGTCCACAGACCCTGGTGCAGGTGTGGGTGGGCGGCCAGCTCTTCCAAGCCGACCGCGCCCTGCTGGTGGAGCACTGTGGCTTCTTCCGAGGCCTCTTCCGCTCCGGCATGCGGGAGACCCGCGCAGCAGAGGTGCGCCTGGGCGTTCTGAGCGCGGGAGGTTTCCGCGCCACGCTGCAGGTGCTGCGCGGCGACCGGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGGCCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCTCGCTTTCTGGAGCACAACCTCACGTCGGACAACTGCGCATTGCTGTGCGACGCGGCCGCCGCCTTCGGCCTGCGCGACGTGTTCCACAGTGCCGCGCTCTTCATCTGCGACGGCGAGCGCGAGCTGGCGGCCGAACTGGCGCTGCCTGAGGCCCGCGCCTACGTGGCGGCCCTGCGGCCCAGCAGCTACGCGGCCGTGAGCACGCACACGCCCGCGCCCGGCTTCCTGGAGGACGCCTCGCGCACGCTGTGTTACCTGGACGAGGAAGAGGACGCGTGGCGCACGCTGGCTGCGCTGCCCCTGGAGGCCAGCACGTTGCTGGCCGGGGTGGCCACGCTGGGCAACAAGCTTTACATCGTGGGGGGCGTGCGCGGCGCCAGCAAGGAGGTGGTAGAGCTGGGCTTCTGCTACGACCCCGACGGCGGCACGTGGCACGAGTTCCCCAGCCCGCACCAGCCGCGCTATGACACAGCGCTGGCCGGCTTCGACGGCCGCCTCTACGCCATCGGCGGCGAATTCCAGAGGACGCCCATCAGCTCCGTGGAGCGCTACGACCCAGCCGCGGGCTGCTGGAGTTTCGTGGCCGACCTGCCGCAGCCGGCCGCCGGCGTGCCCTGCGCCCAGGCTTGTGGCCGTCTCTTCGTGTGCCTGTGGCGGCCGGCCGACACCACCGCCGTGGTGGAGTACGCAGTGCGGACCGACGCGTGGCTGCCAGTGGCCGAGCTGCGGCGTCCGCAGAGCTATGGCCACTGCATGGTGGCCCACCGCGACAGCCTCTATGTGGTGCGCAACGGACCTTCCGACGACTTCCTGCACTGCGCCATCGACTGTCTCAACCTGGCCACGGGCCAGTGGACGGCGCTGCCCGGCCAGTTCGTCAACAGCAAGGGAGCGCTCTTCACGGCCGTGGTGCGCGGTGACACCGTCTATACGGTCAACTGCATGTTCACGCTGCTCTACGCCATCGAGGGCGGCACCTGGCGGCTGCTCAGGGAGAAAGCCGGCTTCCCGCGGCCCGGCTCCTTGCAGACCTTTCTCCTAAGGCTGCCTCCTGGCGCTCCTGGGCCTGTGACTTCGACAACGGCAGAACTGTGACCTCTGGGCTGGCTTTAGGAGGGAGGAGACGCCGCGACTCCTCCCTGAGCTATGGCTGAGTGTGTGAGGCCGGCCTTAGAAGTAGCTGGCAACTTCCCTCTTTCTACTGAGACACCCAGGTTTGGTGCCTTCTGGTGGTGTGGACATGTTCAAGAAGCTCAGGGAGCAGTGATGATGCCCTCAAATTACTTGGGCTCTGCTGAGAGCTGGTGGGTCACAATGTCAGTGAACAGGGTAGGGGGAGTTGGGATTTGAATAATCCGGGCTTATATGTAATGGGCTAGTGATTGAGCATCGCTGGGAGCGACTTAAATGATGTTAATCAAACTGCAAGTAGTAGGCAAGAATTAGGCACCTACTGTATGCCCAATACAGTGTTATGCGTAATGAGAGCCGTAGTTGCCACACAGGGATCCAGGAAGCTTAAAGGATAACCCAGAAAACAATCTTAACAGTTACAGGACAACAAAAAGGTTTACACACAACTTGATCCACAGAGTTGAAGGCAACATGCAAAAAAATTTAAAACCGCATACAATATAATAAAATAAAGTGCTGAAGAAATCAGGGCAAAGGGAAAATAGGAAGAGAAAAAATATATAACTCCAGAAAAGAAGAGAGTGTGCAAACTCTATGGAGGAGATGAGCAGGATACCATTAGCTGCTGAAAGGGGAGGCTTAGACCATGGAGGCTGAGAGCTCAGAAGAGAAGCAGGGTTGGGGAAGGCTGGAGCAGATGGGGAGGGTCTCTGCAAGTCCAGCCATACCAGCAGAGCAGCAGTAGTTGGGGCATCTAGAGAGGGGATGAGACTGGGCCAGCTTGCAGCAGATAATGACTGAGCTGAGCCTGGAGTGAGACCTGTGGGGGCGAGAGGATTCTTCACGTTCCTTTTTGGAACCCTTAGGGGAGCACCCAGGTGTAAGCCCTTGCCCACCCTGTTTTTGCCATCACCACGGGGCAGTGGACTGTTAACCCACATGACTTCAGGTCAGTTGAGGTATGAGCCAAATCCTGCCTCATCTTCCTCAGTTGTAGCCCCTCCTCCACATTCTACAGGTTTGTTCTCTTCCTGTCCTATTCTGCCCTTTGCAATTCCCTGGGCTGGAATGCCTAGTCTCCTCCTCTCTCCCTGTCAGTGCTCTACCATCCTCTGTGCAGCATTGGCTCACCCAGCTCTTCGTTTTCCTGACCTGGGCTGCCTGCATTGCTCATTGGACCCCTGGCTGTAACATCATTGTGTGTGCACAACCACGTGTGTGGATTGTAAGGGCAGAGATCCTGTTAAGTGAGCTGGGGGACTTCCCTGTCCCAGATTAAAATGATGATGCCTTGAAAGAACCCAGGCTACAGAGGCCACTAGTTAGGAACCTAGTGCTGACCTCTGTTGTTGGATGAGGACTCTCGTTCCTTCATCAAAATCCCCAGCTCTGGCTTCTGGGCAGATGCCTGTCCCAGCCCTTTCCAGCCTCTCCATGGCCTTGGGAAGACTTCTCTGGGTGGTTCTCATTGGTCTCCATCCCCCAGGACCTGAGGCCCATGGGGAATCTTGGCCTCGTCAGAAGTGGAGAATGCAGTGTCAGCATGACACCTCCGGGGCATGGAGGCTCGCGCCAGGGCTGCACCTAGCTGCCTCTTCTCCTGGCCTATGTCCCAACCCTGGAGAATGCTGCCCTCAGAAGCCTGGGACCTTCCAGCCCTGGAGTAGCCTAGTCTGATAAGTCTCAACAATAAACCCTGACTTTTGCATCTTGTGAATTATGTGCAAGGTACTTTCACATCTGACTTCCCCCTCCCGACCTACCTTGGGCCTGGGAGTTGGGTACCCTCTTCTTGTGGCAGAAACTGACCCACTGGCCCAAAGCCACACAGCATAGCAACAAGAGTTCCTCAC
Task1_train_21603
Here’s a variant in MAP2K1 (mitogen-activated protein kinase kinase 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; RASopathy
TCAGGCAGCTGTAACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTC
TCAGGCAGCTGTAACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCCTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTC
Task1_train_21604
Here is a variant affecting MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; RASopathy
TGTAACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTT
TGTAACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTCTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTT
Task1_train_21605
Consider this mutation in MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Is this a benign change or a disease-causing variant?
Pathogenic; RASopathy
AACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTG
AACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCCTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTG
Task1_train_21606
This gene mutation involves MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign?
Pathogenic; Non-small cell lung carcinoma
ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTG
ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCCGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTG
Task1_train_21607
This variant affects gene MAP2K1 (mitogen-activated protein kinase kinase 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
Pathogenic; Extracranial arteriovenous malformation
ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTG
ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCCGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTG
Task1_train_21608
The gene MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Neoplasm
ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTG
ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCCGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTG
Task1_train_21609
The gene MAP2K1 (mitogen-activated protein kinase kinase 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; not provided
CAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATT
CAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGATGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATT
Task1_train_21610
Here’s a variant in MAP2K1 (mitogen-activated protein kinase kinase 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Vascular malformation
AGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTA
AGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAATCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTA
Task1_train_21611
This variant lies on Chromosome 15 and affects the gene MAP2K1 (mitogen-activated protein kinase kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Cardio-facio-cutaneous syndrome
TTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTG
TTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACCTCGGCCTTGCATCTTCTTTGGTCCCATGCATGATGTTATTTGTAAGGCAGTGTCAGATCTCCTCATACATGGAGAGGCATTAAGTCTTCATTTCCCTGTCTTCTAGAGGTTTGGGATAGAGGGTGTGAAGGAAGAGCAGATTATGCTTACTCTATCTTTTAAGCTCAGAACTGGGGTGTGTGTGTTGGCAGGAACACCAACATGATGATGTATAATGAAGGCCTATCTTGTCACCTGTGTCACTTCAGCCACCCCACACAATTGTCACTGACATGCTTCACCTCCCGGGACTTCAATTTGAAACCCAATGAAATCCAGTGAAACACAGTGGAAACTCTTACCACCTTCCTGTTAACCAACTCACAGGAGTGATGAACACTTTTCAGTTCCCTGGATGAAACACTCTTGAGCAATGCCCACAGCATGCTGAATGCACTGCAGGCAGGCTGCTCTCTGCCATACCCACTCGCTTCAGCACCCACTGGCTGAATTATGTGCTTACCAAGAGCCAGCTTGTTCCCAAACCCATTTGTTCAGCTGTAGCTGGTATTGTAGTTAAGTAATGTATTTAGGTATCAGATAAACTGATGAAATGTAGCTGCAAATGAAGTGATTTTTTTCCCCTATGAACACTAGTTAAAAGCTGTGGAAAGACTTATAAGTCCAAGTCACTAAAACACATTACTGTCAAACTAGATGAACATTAAGATTGGGGGAAATCATAAAACTCTAGAATTTTATATTGTGATTACTCTGCAAGTAATCACAATATAACTTTAACCAGCTTTAACAAATCAGGAATAGGAAATTGTCGACAATGTATTATGTTCTGGTCCATGTGCGAAGGATGATGTGGACCTCTTAACCAGTGGGTCCTCTTTGGACCCTTATTCAAAGAGTCTTGCCCTATGTTAAAGAATGGGCGAATGAATGCAGATTTATATACATTGAGTAAAAATAAGAATTTTAGATATGTAATTTTTATGATTTTTTGCTGTGACTTTTTTGATTAACCTGGTTCCTGGACCTGATTACATTGAAAATGAGGATTTCTACTGTTGTGATTCAGTTTAAAGTTGGTTTGATTTCATTTTAGTGAATTTAGGGTATTTTATTTTGCGTATGGTAAAAACAATAAAACCAACAGTAGTGGGGCTTTTTAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACAACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTG
Task1_train_21612
This variant affects the gene MAP2K1 (mitogen-activated protein kinase kinase 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; RASopathy
TGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTG
TGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGGGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTG
Task1_train_21613
Gene MAP2K1 (mitogen-activated protein kinase kinase 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; RASopathy
AGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCA
AGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCTGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCA
Task1_train_21614
The gene MAP2K1 (mitogen-activated protein kinase kinase 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; RASopathy
TTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGA
TTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGAACATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGA
Task1_train_21615
A genomic change on Chromosome 15 affects MAP2K1 (mitogen-activated protein kinase kinase 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; RASopathy
AGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGA
AGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCGACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGA
Task1_train_21616
Here is a variant affecting MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; RASopathy
AAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTA
AAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTTCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTA
Task1_train_21617
An alteration has been detected in MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
Pathogenic; not provided
AAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAG
AAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCGGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAG
Task1_train_21618
A change on Chromosome 15 affects gene MAP2K1 (mitogen-activated protein kinase kinase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Cardiofaciocutaneous syndrome 3
TTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCT
TTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGCCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCT
Task1_train_21619
A genetic alteration is present in MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Cardiofaciocutaneous syndrome 3
CTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCTGCCAT
CTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCAATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCTGCCAT
Task1_train_21620
The gene MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Cardio-facio-cutaneous syndrome
TTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCTGCCATA
TTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTGTGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCTGCCATA
Task1_train_21621
This variant affects gene MAP2K1 (mitogen-activated protein kinase kinase 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
Pathogenic; Neoplasm
TTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCTGCCATA
TTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGGTGAGTTTGCCTTGATTAACAGGTAATTGGATTATTTCTCAGGGTACTTAGAAGCCTGGGGACCAGGGTAGAAGGAAGACTGATTTTACTCAATACCTTTTTGTGCTGTTTGAATTTTTTTTTTTTTTTAAGACGGAGTTTCATTCTTGTTGCCCAGGCTGGTGTGCAACCTCCATCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCATGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGATCTCGAACTCCTGACCTCAGGTGATACGCCCGCCTCAGCCCCACAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGTGCTGTTTGAATTTTGAATGCTTGTTATCTATATTAGATTATGGATAAACACACTAATGACTGTGTTAGTGTATTAATCCCCATCCCATCTGGAAAATAATAAGTGACTCTTTTTTAGCCTTCTGTGTGCTGTGGAAGGAATGCCAGGATACCTGTTTATTACTTATCAAGTGCTGGAGAAGCTGCTTTCATTCACCCAGCCCCAGCGATGCACAAAACAAGGATTTCAAGTTGTTTCCCTCTTGTGCTCCAGCCCTGCCAGTGAATCCCCTTTATCTTCCTGCATTATAGCATCTGAACTCCTATCATAGCATGTACTTGTAGAGCTGGACTTCCCTTTCCTATCTACCCTTGGTCCTCTTTTGGAATACAGCCCCTTGCTCCAGAGAGGTTGGGCTCTTCAATGTTTTTTTGCACATGGTGTTCACTCCTGTGCCCATAATTTTTTTGTGTGCTGTTGCTTCTGTCTTTTCAAACAGTGCCCATTTTCTAGGTCCACCTCTTGTCTAGCTTTTACCAGGTGCCCCAGCCCACACTGGTAACCACTGCATCCATGTTCTCTGACACTCGCTGTCTGTGGGATTTTTTTAGAAGTTCAACCTTACTACGTAACTATTTAATGTGACTGTCACTTGTCTCCCCAGCTGGAACAAGGGAAAATGTTAGGATGACATAAGGTAGCACCTTAGACTTTGGCTTAGTCTCAACCACATCAGGCTCCTGAGCTCAAGGAAGAATCTTTTGGGCAGCCTAGGTTAGCATACCTGAGTTCCTCATACCCTTCTACTTTCACAACTCTTGAGTGTGAACCAAGTCCTCAAGGTCAATTTCTTTTCATATCTGAGCTCCAAAGCCTCTCTTGGAGTAAGCCCTCCCTTAACTTTGTTCCTGTCTAGGCTCCCAGGAGCCGAGGCACAGCTGGAACAGCCTCCAGTGCCAATGCCTGCCTTAGTACAATGACACTCATTTCTTGGTTGAGCAGAAACTTGTTTGTAACAACTTAACCTGTTTCTCCTCCCTCTACCTTAAAGAGCTTAAACATTTAACAAGACTATATCTTTCATCCCTTCCTCCCTCTTTCTTTCATAAAACCTCTCTTTCTTCCACCTTTCTCCAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTGTGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGTATGTGACACCCTCTCAGCCTCTGGAGCAATGGCCTTAAGAGTTGGGTGGCTCTGGCCTAATCTTTGGTCTGGGAGGTGACCAGCTACCTCCCTGCTGCTCCTGGGATCCACATCACTATCTGGGGCATCTGGGAAGTCTAACTGTAGAGCTTGGGATATTCACAAGATGGCAGGCCTCCTTTCTAGGTCCTTGCCTCTCTTGAAGGAAGTGGGCAGTATTCCTGGTGGGTGTACCTAGAGCACCTCTCATAGTTTTTTTGATTCTGATTACCCTAAGATGTGATGTAAGTAAAATCTGGTAAATACAGTTTAAATCCATTTCTTGTGTACAATGCTGTATGCTAGGTGCAAGGCTCTGGAGTTAAAAAGATGACATAATCTACTGTAAGGGCAGCCTGAAGGGTTTCTCTGGGTTTCTGTATGATGCACGTTAGTGGAAGGAGAGGGCAATGGAGAGAGAGGGCATTCATGGGCTAATTAATCATATGCATGTTAGCTGCCAATCATTTTACCACTATGTTCTTGGAGTCCCTCCTTTTCTTCAGATATAAGTCTTCCAACACACTGTGCAACTTAGGGAATTCTGCAAGTATTAGTCTTTGCTTTATTCTCCCTGGGCTGATGGCTTAGAGATGAGGGCTGACGTGAGTCTGCACACTTGGTGGCTGTTGTGCTTTCAGTCCAGTATTGTGTCTCTCAGCTCCTACCCCATTTTATTCCTGATACTTGAGACCTGCCCTGACCTTTAGAATAGGGATCCTGGTGTGCAGCCTTAATGAACTTTAGAAGAACCCTCCTGGGAGGATTCTCTACTTGTGCCTCCATTATTTTGAACCTCTCTTCATTGTAATGATCACGAAGTGCTGCATCCACTGTTATAGGCATCTGCTGACATTTGTGGGTGCCATATGGAACCTAAATCCTAAAAACGTCTTCTGCACATCTAAAGGTTAGAGAAAGTGCTTGTTCCTTCTTTCCTCAATGAGAGCAGAGCATTCTCTGTGGGAAGCATATGAACATTTCTGGCTTGGTCCTAGTGCTTGGCCTGGGGTGCTGATTATTTTCTGCTTGGGTCTTGGCTTCCCCTCAGGGAGCTGTTTCTTATCCCTTGGGTCTCTTGTGTTCTTTTTTTTTTTTTTTTAATTTATTTTTATTTTTTAGGGTGATGAAGGGTTTTTTTCCCCTTTCTTTTTTTTTCTTTTTGTTTTTTTAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCTTCCAGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCCGCTAATTTTTTTCTATCATTACTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAACCAATCTTTTTATTTTTCTTACATTGACCTCTTTTGAGATACTAGGAGGCTTCTTCATTTACATTGACCTTTTTTGAGATGCTAGGTGGCATCCTTATTCTGGAATTCTTTATTCACTTTGAACTTACAGATGTTGATCACATCTCTTGTGCCCTTGCCATGTCCTCCCCTTCCTTCAAGCCTTCCTCCTCCTTCAGGAGAAAATGACACTGGAAATGACTGGAGTTGGTTTCCCATTCTCTTAGCCCATTTCCAGTGACTGCAGGTCAGTTTTTCCCCCCATGGATTTGGCTCTCTGGAAATAGTGAGATGTTCCTGCACAAGTCTCTGGAGTTATCGTGGAGAGCATGAGACTGGGAGGGGAAAATGTTTCAAGGGCCAAGCACAGTGTCTGGCACCTGTTAGGTGGTATGTGTTGAGTGACTGAATGAGAGTGGCCAGGATGGGGAAGACCTGGTCAGGCTTGGGACTCGATGGGGGAGGGTTAGGCCTTGGAGCCTGCCATA
Task1_train_21622
Assess the clinical impact of this variant on gene MAP2K1 (mitogen-activated protein kinase kinase 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Cardiofaciocutaneous syndrome 3
GCAGACAGCCAACGTCCTGCCCTCCTGCAGCTGATTGGGGCAGAGAGAGGCTAGAGCTGGCCTGGAATGGTGATTACCCCCAGGCTGAAGATGAAGAGGGGCCAAGTGGAGTTGGGGCACTGGGATATTAGAGGGTCATGATTTTTTTTTATTATTTTTATTTTTATTTATTTTTTTGAGGCAGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACGCTAATTTTTTATTTTTATTTATTTATTTAATAAATATATTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATGTCGGCTCACCACAACCTCCTCCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGCGCCCACCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGAGTTACGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGGCATCGCCCGGCTTTTGTTTTTCAATTTGTCCTTGGAAAGATACTTAAATAGACCTGTTTGAATCTGTTTAAGAATAAATAGCCAGCCATGGTGACTCACGCCTATAGTCCCAGCTACTTGGGAGGCTGAAGCAGGTGTGTTGCTTCAGCCCAGGAGTTCAACTCAGCCTGGGCAATGTAGTGAGACTCTGTGTCTAAAAAAAAATAATAATAAATGCATTCATATAACAGTATCGAAGAGAAAAATAATGAAACGTTATTAGTGGCTCTGCTGGGTTGTATTATAGGAGGTTTGGGTTTTTTCTGTGATTTTCTAGATGTCCTATATGGTGTCTATATTATGACTATTAATATAGACACCATATAGGTTTGGGATGTCATGGTTTAGCATGTTTCCTAGATATGGTCTGCCCTCAAAGTGAGTGTCATTGTTTGCTGATGTCTGCTCCACAAAGCCCTGCTCCAGGGGCCTTCACCAAGTCCCAGCCTTGGTTTGCTCACCTATAAATGAGGATAATTGACCCTGGTCTATGCACATTACAGGACAGTTGTATGAATCAGAGGATACAGCGGAAGAAAAAATGTTTGGAAATTTAGGTCTCTGCAAACTAAGGGCCAATGTACTGGTATTTGTGACAGTGACCGGATGGGTGGGATGGGGTGATAATAAGAGTGCAAGGAAGGGGGATGGGGGCATCGTTTTGACTCTGAGGAGCAGCTTTAAGGCCTCTCACATTCCAGCTCCAGGTAGCAAGGGGTTCCCCTTGACTGGCAGGGTAGATGTACCTGTGTAGGCTGTTAGGTGAGTGACTCCAGTGGAATGGAATGGAATCATGACTCAGCTCCCACCCTGCCACACATATTTGTAAGAAAAAGACCCACATGCTCCATGCCTGGTGCAGAAGTCTAGAATGGGAATTCCCGCCAAACCCTGTCCCCTTCTAGCCTGTGTAGCCTCAGCAAGCAGATAGGTCTTATTACTTGTTTTTTTCTGCCTCCTTCATGATCCAGCCATAGATACTATATCTTACCAGTAGGGGTGGTTGAAGCAACAGACTTTGAAATCCTGACTGTTCATGATAACGGACTCCTTCCTGTGGATCATCTGGCCAAGTCTGCATTCTTAGAGAGTGGAAATCGACTGTCTTTCTGTTCTACTTCTACAGCAGCTGCTCATTTCATCTCCTGACAGTTGCTTCTTGAACTCAGAACAAAGGGCCTTGGTGTACAGTGTTTGCAAGCCAAGGGCTGCCTCTGATGGCGGACGGGGGTGTGGTCCTGGGACTCGTGGTCAGGGCTGGTCTGTGTGGAATGCTGATCCTTCTCTTCCCCAATCTACCTGTGTCAGTTCCCTCCTTTTCTATTTTCTCTTCCCTGCAGATGTCAAGCCCTCCAACATCCTAGTCAACTCCCGTGGGGAGATCAAGCTCTGTGACTTTGGGGTCAGCGGGCAGCTCATCGACTCCATGGCCAACTCCTTCGTGGGCACAAGGTCCTACATGTCGGTATGAACAGAAGTTTCCATTGCTTGAGCTTCTTGTACGGTCAGGGAGAGGAGCCCAGTGGGTGCCTTTCCTGTGGAGCCAGAGTCTTGTGCTGGGTAGGGGACAAGAAGTGAGGGAGGAGGCACAGTGCTCTGCCCTGAGGAGATGAAGTTGAATGGGAAGATGGTCTTGGTCTTTCTTAGGCCTTGGAGCATAACTGGGATATTGGGGCCTTGACTCACTGAAAGGACTGTCCAGCTCCAGAGTGTGGCTTTCTTTCTGAAGGATTGTGAGCTCCAGCTCCCCTCTGGGCATCTCTACATGATAGTCTTCAGATCCACAAACCCAGGATGCTCAGATATAATCCACCCCAAACTACCTCACCTTCTCCTTTTCTCTTAGCAGTAAATAGACAGCATCATCTCCCTGGTTTCCCAAGGTAGAAACCTGAGCATTGGCTCTTAACCTGCCTTCTCAGCAGCCCGTCCTTTCAGTATCTTGTAGCTCCCAACTCCTGAGAGTCTGTTCAGAATTGTCCAGCCTCTTTTCTCCCTCCTCACTATGTCTGTCAGACATGTACCCCTCCTTCTAACTGCAGCATACCTGGACCCCTCGCCAGAGTCTCTGCTCCACTTCAGCCAACACCCTGTGTTGAGGGTATTTCCTCCTGCTCCTGGCTCTGCTGGCTCACACTGTCACCAGAGCATTGTGTGGGGCCATCCTCACACTATGGCAGCACCAGCGTGTTTTCTTCCCTCCTCCATACCACCGGTTCCTTGGGGACAGGGACAAGGTGTCTCTCTTGTCCCTAGTGCCTGGCATGGGGCCTGGCATGTGGTAGGTGTTCAGGGAATGCTTGGCAAGTGGGTAGATGTTTAGTTGGCTGAGTGGGAGGGTACATGGATAAAACATTTCTGAGAATGATTTGGAAAGGTGGAAACGTGAGTCTGGGCCAGTGCTGAAGTGCGGCAAAGTGGAGGAGCGTTGGAGTGAGTAGGCAGTCTTTACAGAAGTGGCGGGGAGTGCAGGCCCGCGTGGAGAGGGGGACAGGCGCAGAGGCTCAGATCTTAACTTGTACAAAGCATTTTATGTGTTCTCTGTCAAAGCACATGTCATGTCCCTGGAAGGTCTCATTTGATCCATGTGGTTGTCCCAGGAAATAAAGATTATTGTTCCCATTTTAGAGGTGAGGAAGTCTAGATTCAGGGAGGTTAAGCAACCTGCCTACTTAACCTTGCTGAGCCAGGATTGAAAGCTAGCTGCCCCCTTGCCAGGCAGACGCCCTTTGCACAGCACACCCTCATTTGCCTCTTGGGGAGGATTTGGCACCTGTGCCCAGATCCCAGTGTGAACACATCCTCATTCCTTCTTGCTGGCACCTACCCCCCACTGTGACTCCAGCCACTGTCAACATCACTCACCTGGCACTGACCCACATCCCCACCCCTCCCCTCCAGTGACCCACAGTGGAACTCTCTTTCTCTGTCATCTCCTCATTGCTTCTTCCCTAAATGTCTAATAACTGAGCAGCTGGCATCCTGGGCCATTTGACTGCCAACTCTCAAGTTCAAAATCCATTAACAGGCCCTGGGAGTTACTAATCAAGGGTTTAATGGTTGGGGTTTTTGTGGTTATATGGTCAGTTACGAAATAGTCCAGTGTTGGAGTTAGTGAAAAATGCTACTGGAGAAGTTAATGTCTACGTGAATATACTATGGGCAGAATAAAGATTTTTTCGGTAGGGTTCTTGAAATACATGTGCTATTTCAAATAATGCTCATTAAAAATAATGCTTTTGTATAGCACTGTATACTTTTTTTCTCTTTGGCTTTTCCCACCAATATCAACCAATATTTGTATTGCATTTTACAACATTTGACATACATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAAGCCCTGCCTCCC
GCAGACAGCCAACGTCCTGCCCTCCTGCAGCTGATTGGGGCAGAGAGAGGCTAGAGCTGGCCTGGAATGGTGATTACCCCCAGGCTGAAGATGAAGAGGGGCCAAGTGGAGTTGGGGCACTGGGATATTAGAGGGTCATGATTTTTTTTTATTATTTTTATTTTTATTTATTTTTTTGAGGCAGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACGCTAATTTTTTATTTTTATTTATTTATTTAATAAATATATTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATGTCGGCTCACCACAACCTCCTCCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGCGCCCACCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGAGTTACGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGGCATCGCCCGGCTTTTGTTTTTCAATTTGTCCTTGGAAAGATACTTAAATAGACCTGTTTGAATCTGTTTAAGAATAAATAGCCAGCCATGGTGACTCACGCCTATAGTCCCAGCTACTTGGGAGGCTGAAGCAGGTGTGTTGCTTCAGCCCAGGAGTTCAACTCAGCCTGGGCAATGTAGTGAGACTCTGTGTCTAAAAAAAAATAATAATAAATGCATTCATATAACAGTATCGAAGAGAAAAATAATGAAACGTTATTAGTGGCTCTGCTGGGTTGTATTATAGGAGGTTTGGGTTTTTTCTGTGATTTTCTAGATGTCCTATATGGTGTCTATATTATGACTATTAATATAGACACCATATAGGTTTGGGATGTCATGGTTTAGCATGTTTCCTAGATATGGTCTGCCCTCAAAGTGAGTGTCATTGTTTGCTGATGTCTGCTCCACAAAGCCCTGCTCCAGGGGCCTTCACCAAGTCCCAGCCTTGGTTTGCTCACCTATAAATGAGGATAATTGACCCTGGTCTATGCACATTACAGGACAGTTGTATGAATCAGAGGATACAGCGGAAGAAAAAATGTTTGGAAATTTAGGTCTCTGCAAACTAAGGGCCAATGTACTGGTATTTGTGACAGTGACCGGATGGGTGGGATGGGGTGATAATAAGAGTGCAAGGAAGGGGGATGGGGGCATCGTTTTGACTCTGAGGAGCAGCTTTAAGGCCTCTCACATTCCAGCTCCAGGTAGCAAGGGGTTCCCCTTGACTGGCAGGGTAGATGTACCTGTGTAGGCTGTTAGGTGAGTGACTCCAGTGGAATGGAATGGAATCATGACTCAGCTCCCACCCTGCCACACATATTTGTAAGAAAAAGACCCACATGCTCCATGCCTGGTGCAGAAGTCTAGAATGGGAATTCCCGCCAAACCCTGTCCCCTTCTAGCCTGTGTAGCCTCAGCAAGCAGATAGGTCTTATTACTTGTTTTTTTCTGCCTCCTTCATGATCCAGCCATAGATACTATATCTTACCAGTAGGGGTGGTTGAAGCAACAGACTTTGAAATCCTGACTGTTCATGATAACGGACTCCTTCCTGTGGATCATCTGGCCAAGTCTGCATTCTTAGAGAGTGGAAATCGACTGTCTTTCTGTTCTACTTCTACAGCAGCTGCTCATTTCATCTCCTGACAGTTGCTTCTTGAACTCAGAACAAAGGGCCTTGGTGTACAGTGTTTGCAAGCCAAGGGCTGCCTCTGATGGCGGACGGGGGTGTGGTCCTGGGACTCGTGGTCAGGGCTGGTCTGTGTGGAATGCTGATCCTTCTCTTCCCCAATCTACCTGTGTCAGTTCCCTCCTTTTCTATTTTCTCTTCCCTGCAGATGTCAAGCCCTCCAACATCCTAGTCAACTCCCGTGGGCAGATCAAGCTCTGTGACTTTGGGGTCAGCGGGCAGCTCATCGACTCCATGGCCAACTCCTTCGTGGGCACAAGGTCCTACATGTCGGTATGAACAGAAGTTTCCATTGCTTGAGCTTCTTGTACGGTCAGGGAGAGGAGCCCAGTGGGTGCCTTTCCTGTGGAGCCAGAGTCTTGTGCTGGGTAGGGGACAAGAAGTGAGGGAGGAGGCACAGTGCTCTGCCCTGAGGAGATGAAGTTGAATGGGAAGATGGTCTTGGTCTTTCTTAGGCCTTGGAGCATAACTGGGATATTGGGGCCTTGACTCACTGAAAGGACTGTCCAGCTCCAGAGTGTGGCTTTCTTTCTGAAGGATTGTGAGCTCCAGCTCCCCTCTGGGCATCTCTACATGATAGTCTTCAGATCCACAAACCCAGGATGCTCAGATATAATCCACCCCAAACTACCTCACCTTCTCCTTTTCTCTTAGCAGTAAATAGACAGCATCATCTCCCTGGTTTCCCAAGGTAGAAACCTGAGCATTGGCTCTTAACCTGCCTTCTCAGCAGCCCGTCCTTTCAGTATCTTGTAGCTCCCAACTCCTGAGAGTCTGTTCAGAATTGTCCAGCCTCTTTTCTCCCTCCTCACTATGTCTGTCAGACATGTACCCCTCCTTCTAACTGCAGCATACCTGGACCCCTCGCCAGAGTCTCTGCTCCACTTCAGCCAACACCCTGTGTTGAGGGTATTTCCTCCTGCTCCTGGCTCTGCTGGCTCACACTGTCACCAGAGCATTGTGTGGGGCCATCCTCACACTATGGCAGCACCAGCGTGTTTTCTTCCCTCCTCCATACCACCGGTTCCTTGGGGACAGGGACAAGGTGTCTCTCTTGTCCCTAGTGCCTGGCATGGGGCCTGGCATGTGGTAGGTGTTCAGGGAATGCTTGGCAAGTGGGTAGATGTTTAGTTGGCTGAGTGGGAGGGTACATGGATAAAACATTTCTGAGAATGATTTGGAAAGGTGGAAACGTGAGTCTGGGCCAGTGCTGAAGTGCGGCAAAGTGGAGGAGCGTTGGAGTGAGTAGGCAGTCTTTACAGAAGTGGCGGGGAGTGCAGGCCCGCGTGGAGAGGGGGACAGGCGCAGAGGCTCAGATCTTAACTTGTACAAAGCATTTTATGTGTTCTCTGTCAAAGCACATGTCATGTCCCTGGAAGGTCTCATTTGATCCATGTGGTTGTCCCAGGAAATAAAGATTATTGTTCCCATTTTAGAGGTGAGGAAGTCTAGATTCAGGGAGGTTAAGCAACCTGCCTACTTAACCTTGCTGAGCCAGGATTGAAAGCTAGCTGCCCCCTTGCCAGGCAGACGCCCTTTGCACAGCACACCCTCATTTGCCTCTTGGGGAGGATTTGGCACCTGTGCCCAGATCCCAGTGTGAACACATCCTCATTCCTTCTTGCTGGCACCTACCCCCCACTGTGACTCCAGCCACTGTCAACATCACTCACCTGGCACTGACCCACATCCCCACCCCTCCCCTCCAGTGACCCACAGTGGAACTCTCTTTCTCTGTCATCTCCTCATTGCTTCTTCCCTAAATGTCTAATAACTGAGCAGCTGGCATCCTGGGCCATTTGACTGCCAACTCTCAAGTTCAAAATCCATTAACAGGCCCTGGGAGTTACTAATCAAGGGTTTAATGGTTGGGGTTTTTGTGGTTATATGGTCAGTTACGAAATAGTCCAGTGTTGGAGTTAGTGAAAAATGCTACTGGAGAAGTTAATGTCTACGTGAATATACTATGGGCAGAATAAAGATTTTTTCGGTAGGGTTCTTGAAATACATGTGCTATTTCAAATAATGCTCATTAAAAATAATGCTTTTGTATAGCACTGTATACTTTTTTTCTCTTTGGCTTTTCCCACCAATATCAACCAATATTTGTATTGCATTTTACAACATTTGACATACATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAAGCCCTGCCTCCC
Task1_train_21623
Here is a variant affecting MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; RASopathy
CAGACAGCCAACGTCCTGCCCTCCTGCAGCTGATTGGGGCAGAGAGAGGCTAGAGCTGGCCTGGAATGGTGATTACCCCCAGGCTGAAGATGAAGAGGGGCCAAGTGGAGTTGGGGCACTGGGATATTAGAGGGTCATGATTTTTTTTTATTATTTTTATTTTTATTTATTTTTTTGAGGCAGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACGCTAATTTTTTATTTTTATTTATTTATTTAATAAATATATTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATGTCGGCTCACCACAACCTCCTCCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGCGCCCACCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGAGTTACGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGGCATCGCCCGGCTTTTGTTTTTCAATTTGTCCTTGGAAAGATACTTAAATAGACCTGTTTGAATCTGTTTAAGAATAAATAGCCAGCCATGGTGACTCACGCCTATAGTCCCAGCTACTTGGGAGGCTGAAGCAGGTGTGTTGCTTCAGCCCAGGAGTTCAACTCAGCCTGGGCAATGTAGTGAGACTCTGTGTCTAAAAAAAAATAATAATAAATGCATTCATATAACAGTATCGAAGAGAAAAATAATGAAACGTTATTAGTGGCTCTGCTGGGTTGTATTATAGGAGGTTTGGGTTTTTTCTGTGATTTTCTAGATGTCCTATATGGTGTCTATATTATGACTATTAATATAGACACCATATAGGTTTGGGATGTCATGGTTTAGCATGTTTCCTAGATATGGTCTGCCCTCAAAGTGAGTGTCATTGTTTGCTGATGTCTGCTCCACAAAGCCCTGCTCCAGGGGCCTTCACCAAGTCCCAGCCTTGGTTTGCTCACCTATAAATGAGGATAATTGACCCTGGTCTATGCACATTACAGGACAGTTGTATGAATCAGAGGATACAGCGGAAGAAAAAATGTTTGGAAATTTAGGTCTCTGCAAACTAAGGGCCAATGTACTGGTATTTGTGACAGTGACCGGATGGGTGGGATGGGGTGATAATAAGAGTGCAAGGAAGGGGGATGGGGGCATCGTTTTGACTCTGAGGAGCAGCTTTAAGGCCTCTCACATTCCAGCTCCAGGTAGCAAGGGGTTCCCCTTGACTGGCAGGGTAGATGTACCTGTGTAGGCTGTTAGGTGAGTGACTCCAGTGGAATGGAATGGAATCATGACTCAGCTCCCACCCTGCCACACATATTTGTAAGAAAAAGACCCACATGCTCCATGCCTGGTGCAGAAGTCTAGAATGGGAATTCCCGCCAAACCCTGTCCCCTTCTAGCCTGTGTAGCCTCAGCAAGCAGATAGGTCTTATTACTTGTTTTTTTCTGCCTCCTTCATGATCCAGCCATAGATACTATATCTTACCAGTAGGGGTGGTTGAAGCAACAGACTTTGAAATCCTGACTGTTCATGATAACGGACTCCTTCCTGTGGATCATCTGGCCAAGTCTGCATTCTTAGAGAGTGGAAATCGACTGTCTTTCTGTTCTACTTCTACAGCAGCTGCTCATTTCATCTCCTGACAGTTGCTTCTTGAACTCAGAACAAAGGGCCTTGGTGTACAGTGTTTGCAAGCCAAGGGCTGCCTCTGATGGCGGACGGGGGTGTGGTCCTGGGACTCGTGGTCAGGGCTGGTCTGTGTGGAATGCTGATCCTTCTCTTCCCCAATCTACCTGTGTCAGTTCCCTCCTTTTCTATTTTCTCTTCCCTGCAGATGTCAAGCCCTCCAACATCCTAGTCAACTCCCGTGGGGAGATCAAGCTCTGTGACTTTGGGGTCAGCGGGCAGCTCATCGACTCCATGGCCAACTCCTTCGTGGGCACAAGGTCCTACATGTCGGTATGAACAGAAGTTTCCATTGCTTGAGCTTCTTGTACGGTCAGGGAGAGGAGCCCAGTGGGTGCCTTTCCTGTGGAGCCAGAGTCTTGTGCTGGGTAGGGGACAAGAAGTGAGGGAGGAGGCACAGTGCTCTGCCCTGAGGAGATGAAGTTGAATGGGAAGATGGTCTTGGTCTTTCTTAGGCCTTGGAGCATAACTGGGATATTGGGGCCTTGACTCACTGAAAGGACTGTCCAGCTCCAGAGTGTGGCTTTCTTTCTGAAGGATTGTGAGCTCCAGCTCCCCTCTGGGCATCTCTACATGATAGTCTTCAGATCCACAAACCCAGGATGCTCAGATATAATCCACCCCAAACTACCTCACCTTCTCCTTTTCTCTTAGCAGTAAATAGACAGCATCATCTCCCTGGTTTCCCAAGGTAGAAACCTGAGCATTGGCTCTTAACCTGCCTTCTCAGCAGCCCGTCCTTTCAGTATCTTGTAGCTCCCAACTCCTGAGAGTCTGTTCAGAATTGTCCAGCCTCTTTTCTCCCTCCTCACTATGTCTGTCAGACATGTACCCCTCCTTCTAACTGCAGCATACCTGGACCCCTCGCCAGAGTCTCTGCTCCACTTCAGCCAACACCCTGTGTTGAGGGTATTTCCTCCTGCTCCTGGCTCTGCTGGCTCACACTGTCACCAGAGCATTGTGTGGGGCCATCCTCACACTATGGCAGCACCAGCGTGTTTTCTTCCCTCCTCCATACCACCGGTTCCTTGGGGACAGGGACAAGGTGTCTCTCTTGTCCCTAGTGCCTGGCATGGGGCCTGGCATGTGGTAGGTGTTCAGGGAATGCTTGGCAAGTGGGTAGATGTTTAGTTGGCTGAGTGGGAGGGTACATGGATAAAACATTTCTGAGAATGATTTGGAAAGGTGGAAACGTGAGTCTGGGCCAGTGCTGAAGTGCGGCAAAGTGGAGGAGCGTTGGAGTGAGTAGGCAGTCTTTACAGAAGTGGCGGGGAGTGCAGGCCCGCGTGGAGAGGGGGACAGGCGCAGAGGCTCAGATCTTAACTTGTACAAAGCATTTTATGTGTTCTCTGTCAAAGCACATGTCATGTCCCTGGAAGGTCTCATTTGATCCATGTGGTTGTCCCAGGAAATAAAGATTATTGTTCCCATTTTAGAGGTGAGGAAGTCTAGATTCAGGGAGGTTAAGCAACCTGCCTACTTAACCTTGCTGAGCCAGGATTGAAAGCTAGCTGCCCCCTTGCCAGGCAGACGCCCTTTGCACAGCACACCCTCATTTGCCTCTTGGGGAGGATTTGGCACCTGTGCCCAGATCCCAGTGTGAACACATCCTCATTCCTTCTTGCTGGCACCTACCCCCCACTGTGACTCCAGCCACTGTCAACATCACTCACCTGGCACTGACCCACATCCCCACCCCTCCCCTCCAGTGACCCACAGTGGAACTCTCTTTCTCTGTCATCTCCTCATTGCTTCTTCCCTAAATGTCTAATAACTGAGCAGCTGGCATCCTGGGCCATTTGACTGCCAACTCTCAAGTTCAAAATCCATTAACAGGCCCTGGGAGTTACTAATCAAGGGTTTAATGGTTGGGGTTTTTGTGGTTATATGGTCAGTTACGAAATAGTCCAGTGTTGGAGTTAGTGAAAAATGCTACTGGAGAAGTTAATGTCTACGTGAATATACTATGGGCAGAATAAAGATTTTTTCGGTAGGGTTCTTGAAATACATGTGCTATTTCAAATAATGCTCATTAAAAATAATGCTTTTGTATAGCACTGTATACTTTTTTTCTCTTTGGCTTTTCCCACCAATATCAACCAATATTTGTATTGCATTTTACAACATTTGACATACATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAAGCCCTGCCTCCCA
CAGACAGCCAACGTCCTGCCCTCCTGCAGCTGATTGGGGCAGAGAGAGGCTAGAGCTGGCCTGGAATGGTGATTACCCCCAGGCTGAAGATGAAGAGGGGCCAAGTGGAGTTGGGGCACTGGGATATTAGAGGGTCATGATTTTTTTTTATTATTTTTATTTTTATTTATTTTTTTGAGGCAGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACGCTAATTTTTTATTTTTATTTATTTATTTAATAAATATATTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATGTCGGCTCACCACAACCTCCTCCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGCGCCCACCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGAGTTACGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGGCATCGCCCGGCTTTTGTTTTTCAATTTGTCCTTGGAAAGATACTTAAATAGACCTGTTTGAATCTGTTTAAGAATAAATAGCCAGCCATGGTGACTCACGCCTATAGTCCCAGCTACTTGGGAGGCTGAAGCAGGTGTGTTGCTTCAGCCCAGGAGTTCAACTCAGCCTGGGCAATGTAGTGAGACTCTGTGTCTAAAAAAAAATAATAATAAATGCATTCATATAACAGTATCGAAGAGAAAAATAATGAAACGTTATTAGTGGCTCTGCTGGGTTGTATTATAGGAGGTTTGGGTTTTTTCTGTGATTTTCTAGATGTCCTATATGGTGTCTATATTATGACTATTAATATAGACACCATATAGGTTTGGGATGTCATGGTTTAGCATGTTTCCTAGATATGGTCTGCCCTCAAAGTGAGTGTCATTGTTTGCTGATGTCTGCTCCACAAAGCCCTGCTCCAGGGGCCTTCACCAAGTCCCAGCCTTGGTTTGCTCACCTATAAATGAGGATAATTGACCCTGGTCTATGCACATTACAGGACAGTTGTATGAATCAGAGGATACAGCGGAAGAAAAAATGTTTGGAAATTTAGGTCTCTGCAAACTAAGGGCCAATGTACTGGTATTTGTGACAGTGACCGGATGGGTGGGATGGGGTGATAATAAGAGTGCAAGGAAGGGGGATGGGGGCATCGTTTTGACTCTGAGGAGCAGCTTTAAGGCCTCTCACATTCCAGCTCCAGGTAGCAAGGGGTTCCCCTTGACTGGCAGGGTAGATGTACCTGTGTAGGCTGTTAGGTGAGTGACTCCAGTGGAATGGAATGGAATCATGACTCAGCTCCCACCCTGCCACACATATTTGTAAGAAAAAGACCCACATGCTCCATGCCTGGTGCAGAAGTCTAGAATGGGAATTCCCGCCAAACCCTGTCCCCTTCTAGCCTGTGTAGCCTCAGCAAGCAGATAGGTCTTATTACTTGTTTTTTTCTGCCTCCTTCATGATCCAGCCATAGATACTATATCTTACCAGTAGGGGTGGTTGAAGCAACAGACTTTGAAATCCTGACTGTTCATGATAACGGACTCCTTCCTGTGGATCATCTGGCCAAGTCTGCATTCTTAGAGAGTGGAAATCGACTGTCTTTCTGTTCTACTTCTACAGCAGCTGCTCATTTCATCTCCTGACAGTTGCTTCTTGAACTCAGAACAAAGGGCCTTGGTGTACAGTGTTTGCAAGCCAAGGGCTGCCTCTGATGGCGGACGGGGGTGTGGTCCTGGGACTCGTGGTCAGGGCTGGTCTGTGTGGAATGCTGATCCTTCTCTTCCCCAATCTACCTGTGTCAGTTCCCTCCTTTTCTATTTTCTCTTCCCTGCAGATGTCAAGCCCTCCAACATCCTAGTCAACTCCCGTGGGGGGATCAAGCTCTGTGACTTTGGGGTCAGCGGGCAGCTCATCGACTCCATGGCCAACTCCTTCGTGGGCACAAGGTCCTACATGTCGGTATGAACAGAAGTTTCCATTGCTTGAGCTTCTTGTACGGTCAGGGAGAGGAGCCCAGTGGGTGCCTTTCCTGTGGAGCCAGAGTCTTGTGCTGGGTAGGGGACAAGAAGTGAGGGAGGAGGCACAGTGCTCTGCCCTGAGGAGATGAAGTTGAATGGGAAGATGGTCTTGGTCTTTCTTAGGCCTTGGAGCATAACTGGGATATTGGGGCCTTGACTCACTGAAAGGACTGTCCAGCTCCAGAGTGTGGCTTTCTTTCTGAAGGATTGTGAGCTCCAGCTCCCCTCTGGGCATCTCTACATGATAGTCTTCAGATCCACAAACCCAGGATGCTCAGATATAATCCACCCCAAACTACCTCACCTTCTCCTTTTCTCTTAGCAGTAAATAGACAGCATCATCTCCCTGGTTTCCCAAGGTAGAAACCTGAGCATTGGCTCTTAACCTGCCTTCTCAGCAGCCCGTCCTTTCAGTATCTTGTAGCTCCCAACTCCTGAGAGTCTGTTCAGAATTGTCCAGCCTCTTTTCTCCCTCCTCACTATGTCTGTCAGACATGTACCCCTCCTTCTAACTGCAGCATACCTGGACCCCTCGCCAGAGTCTCTGCTCCACTTCAGCCAACACCCTGTGTTGAGGGTATTTCCTCCTGCTCCTGGCTCTGCTGGCTCACACTGTCACCAGAGCATTGTGTGGGGCCATCCTCACACTATGGCAGCACCAGCGTGTTTTCTTCCCTCCTCCATACCACCGGTTCCTTGGGGACAGGGACAAGGTGTCTCTCTTGTCCCTAGTGCCTGGCATGGGGCCTGGCATGTGGTAGGTGTTCAGGGAATGCTTGGCAAGTGGGTAGATGTTTAGTTGGCTGAGTGGGAGGGTACATGGATAAAACATTTCTGAGAATGATTTGGAAAGGTGGAAACGTGAGTCTGGGCCAGTGCTGAAGTGCGGCAAAGTGGAGGAGCGTTGGAGTGAGTAGGCAGTCTTTACAGAAGTGGCGGGGAGTGCAGGCCCGCGTGGAGAGGGGGACAGGCGCAGAGGCTCAGATCTTAACTTGTACAAAGCATTTTATGTGTTCTCTGTCAAAGCACATGTCATGTCCCTGGAAGGTCTCATTTGATCCATGTGGTTGTCCCAGGAAATAAAGATTATTGTTCCCATTTTAGAGGTGAGGAAGTCTAGATTCAGGGAGGTTAAGCAACCTGCCTACTTAACCTTGCTGAGCCAGGATTGAAAGCTAGCTGCCCCCTTGCCAGGCAGACGCCCTTTGCACAGCACACCCTCATTTGCCTCTTGGGGAGGATTTGGCACCTGTGCCCAGATCCCAGTGTGAACACATCCTCATTCCTTCTTGCTGGCACCTACCCCCCACTGTGACTCCAGCCACTGTCAACATCACTCACCTGGCACTGACCCACATCCCCACCCCTCCCCTCCAGTGACCCACAGTGGAACTCTCTTTCTCTGTCATCTCCTCATTGCTTCTTCCCTAAATGTCTAATAACTGAGCAGCTGGCATCCTGGGCCATTTGACTGCCAACTCTCAAGTTCAAAATCCATTAACAGGCCCTGGGAGTTACTAATCAAGGGTTTAATGGTTGGGGTTTTTGTGGTTATATGGTCAGTTACGAAATAGTCCAGTGTTGGAGTTAGTGAAAAATGCTACTGGAGAAGTTAATGTCTACGTGAATATACTATGGGCAGAATAAAGATTTTTTCGGTAGGGTTCTTGAAATACATGTGCTATTTCAAATAATGCTCATTAAAAATAATGCTTTTGTATAGCACTGTATACTTTTTTTCTCTTTGGCTTTTCCCACCAATATCAACCAATATTTGTATTGCATTTTACAACATTTGACATACATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAAGCCCTGCCTCCCA
Task1_train_21624
Gene SMAD6 (SMAD family member 6), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Radioulnar synostosis
GCTACCCCAACATATCCGCCGCCCCCTGCTCCTCAGAGGCTCAACCCTGGAAGGCACACATGCACACCCATTTTTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGT
GCTACCCCAACATATCCGCCGCCCCCTGCTCCTCAGAGGCTCAACCCTGGAAGGCACACATGCACACCCATTTTTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGAAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGT
Task1_train_21625
Here is a variant affecting SMAD6 (SMAD family member 6) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Craniosynostosis 7
TTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAG
TTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGGGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAG
Task1_train_21626
This genomic variant is located on Chromosome 15, within the SMAD6 (SMAD family member 6) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Aortic valve disease 1
CGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAGCCGGACCTTGGAGGATGGGTCAGAGGAGAGGGAGCCAGCCGGGTCAGAGGAGAGGGAGCCAGCCAGCTCAGAGTCAAGGTGCCAGGCACGTTCAGGTGGTTGGGCAGGGAGGGGAGGAGTGAAAAAGTTGGAGACGATGGACAGGACCACTCCTGCTACTACTCCTGGGACTAGGAGTTGGCTTGG
CGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCTTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAGCCGGACCTTGGAGGATGGGTCAGAGGAGAGGGAGCCAGCCGGGTCAGAGGAGAGGGAGCCAGCCAGCTCAGAGTCAAGGTGCCAGGCACGTTCAGGTGGTTGGGCAGGGAGGGGAGGAGTGAAAAAGTTGGAGACGATGGACAGGACCACTCCTGCTACTACTCCTGGGACTAGGAGTTGGCTTGG
Task1_train_21627
This variant affects the gene SMAD6 (SMAD family member 6) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Aortic valve disease 2
CAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAGCCGGACCTTGGAGGATGGGTCAGAGGAGAGGGAGCCAGCCGGGTCAGAGGAGAGGGAGCCAGCCAGCTCAGAGTCAAGGTGCCAGGCACGTTCAGGTGGTTGGGCAGGGAGGGGAGGAGTGAAAAAGTTGGAGACGATGGACAGGACCACTCCTGCTACTACTCCTGGGACTAGGAGTTGGCTTGGGTGTTGGTTTGCATTTGGTAGGTTTGGAGAGGTACAGGTCAAGAGAT
CAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCAGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAGCCGGACCTTGGAGGATGGGTCAGAGGAGAGGGAGCCAGCCGGGTCAGAGGAGAGGGAGCCAGCCAGCTCAGAGTCAAGGTGCCAGGCACGTTCAGGTGGTTGGGCAGGGAGGGGAGGAGTGAAAAAGTTGGAGACGATGGACAGGACCACTCCTGCTACTACTCCTGGGACTAGGAGTTGGCTTGGGTGTTGGTTTGCATTTGGTAGGTTTGGAGAGGTACAGGTCAAGAGAT
Task1_train_21628
A variant has been detected on Chromosome 15 in SMAD6 (SMAD family member 6). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; not provided
CAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAGCCGGACCTTGGAGGATGGGTCAGAGGAGAGGGAGCCAGCCGGGTCAGAGGAGAGGGAGCCAGCCAGCTCAGAGTCAAGGTGCCAGGCACGTTCAGGTGGTTGGGCAGGGAGGGGAGGAGTGAAAAAGTTGGAGACGATGGACAGGACCACTCCTGCTACTACTCCTGGGACTAGGAGTTGGCTTGGGTGTTGGTTTGCATTTGGTAGGTTTGGAGAGGTACAGGTCAAGAGAT
CAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCCGTGAGCGCGCTGCGCCGGCCGGGGGGGCCCCGGGTCCCCGTCCCCATCCCCTTCCGTGCCCTTCTCTCTGTGACACTGCGGGTCGGCGCAGCTGCGGGTGCTCCCCCGGGTGCCCTTGGAGCGTGGGAGCCACCAGGGGAGGCGCCTCAGACCGGCCGAGGGGAGTGGGTGTCCCAGCACACACATCAAGTGGCAACTTTATCTCAAGGCTCCGGTAAACTTAAAAGGGTACATGTCGTAGTTTTCTCTGTGCAGTTTCAGGGACATGATGTAGGCTCCAACTTCATAGGCAGTGAAAGGGGAGGGCAGGCCAAGGAGAGACCAAAGAAGTAGGTGCTATTTCCTCCTACCTCAATTCCGGAATCTACCCCAGTCTGTGCCCAGGCTTCTAGCATTTGTATGCACGTGCCCTTACCCACACTGTGCTTTTCTATGTCCAAGTAGCTGTAAGTTGTGAAATTGGGTGTACACAAATCATAGCTAGAATCAAAAGTGTTCGTCAAATGTCCAATTTGTGCCTTTGCATACTTTCGACAAAGCTTTGCAGGGTAACCCCTCTCTGGAGTAAAGAGCACCCTCTTTATTCCCCACATAATATCATTCCCCACATCCCTTGGGTGTCAAGTGCCAGGGTCTTCCATAGTCCTTCTCAAGTTTTGTGTTCAGCTTTTGTATAGAGTTTAGGGTCTTGGAGGCATCCGTGAGTAGATGAAGAAGCCAGATACTGGATTACCTCTGAGAACTGCCCCCCTTCTTTGTTCTCCTCTTGGGATTTCCTGCACACGCCCCACCCTCAGCCTTGCTTACCTGGCCAGGCCCTGGTGCTCAGGTGCAGACAGGCAGAGGCCCCAGCAGGTCAGGAGGCTCCAGCAGGCCAGGAGCTTGCAGCTGCCTTGCTCTGACCTCTGTCTTGTGGGGAACACACACTTTAGCCTGTAGCTAGCCTCTGAGGGATGTATGGGAATCCATTAGCTGGCACTGGGGTTTTGCAGGGGTGGGACTGGCAGGGAGTCACAGGCTCTTGAGCCTGGGAGGGCTCTGAATCCCTCCATTCTGGCTTCCCTGGGGAGAGTCAGCACCCAGGCTGGGAGCACAGAGAGGGTCAGGTTGTAGGTCTCCTGACTCTGTGTGGAAGGGGAAAGTGGGTCTAGGATGGTGCATTTGTCCTAGGTGTTTTGTTTGAGTGTGGAGTAGTGTCTGGAGAGGAAAGGAAGTTTCCCCTCAGTGATGATTCCTGCATAGAGGGCATTGATGGGGGCAGGTGGGGAGGGGAAGTGTTGATGAGGCACCCTACTCCCCTCATGGTCACTCCAGTCCCAATTTAGGAGCTATGAGCAGCCCCTGATCTGTGGCTCATGCCAGGCTTTCTATGTACTCTTTTCCCCTTACTGACAGCTTTCCCTGGAAGTGACTTTCTCCCCTCTGCCAACTGACTCCCCACTGCCTCTGGGGAAGGAGACCAGTATTTATGGTTGTCTTGTTCCTGGTGATTTTTTTTTTTTTAAAGTAGGTCCCTTCCACTCTCGTAGAAGCCCCTGGCAGGTGTATTCTCTTTCGCCACTTCAGTGTGCAGCAGATGTTTGTTGAGCAATTACTTTGGGCCAGGCACTGTGCTGGGTGCTGTGGCTAACAGAGTGGAAATATGAGTAGGATCTATGCCCTCAAGAAACATAATCCCACCAGGGATTTATGGGGGAGAGATGGGGGAAGAAGGGAAGTGTGCAGGGCCAGGTCATTGGGTGTGAACTACCAGAAGGCTGTGGGTGTGTATGTAATAGGATGGCATGCAGGAGCTCCACAGCTCCAACCTGGAGCCGGACCTTGGAGGATGGGTCAGAGGAGAGGGAGCCAGCCGGGTCAGAGGAGAGGGAGCCAGCCAGCTCAGAGTCAAGGTGCCAGGCACGTTCAGGTGGTTGGGCAGGGAGGGGAGGAGTGAAAAAGTTGGAGACGATGGACAGGACCACTCCTGCTACTACTCCTGGGACTAGGAGTTGGCTTGGGTGTTGGTTTGCATTTGGTAGGTTTGGAGAGGTACAGGTCAAGAGAT
Task1_train_21629
This genomic variant is located on Chromosome 15, within the SMAD6 (SMAD family member 6) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Aortic valve disease 2
GGGGCACACTCATGAAACCTGTATCCAGCCCAAAGCCACAGCAGAGCAGTCAGCCTCCAGGAGGCCCCTGAGGCAGACAGCCTCCTGCTGGGTGGCTGGGCGGGCCTCCCAGTGTGTAAGGGGATGTCAGGGGCCCTGCCACCCTGTTCTTCTGGGGCTTCTAGGCAGGGGCAAGACCAAGGCAAAGGCGTCCAGAGCTGGCCTCACTCAGGCTCCCAGGTGAAGCTGTTAGAAGTGTTGTCCTCTGGGATTTGGTTGGACTTTGATCAGTTTTCCTCAGAAAAAGAGCCATGAATTGCTTTGCTTTGCTCTGTCAAGCCTCCAGCAGAACGCCTCCCTCTGCACAGGCCCAGGCCAGAGACCTGTGTGGAAGCAGGCATGGCAGGCAAATCATGTCACCTCACTGGGCAGTTATAGGTGCCTGCCTGCTTCTCAGAGCTGTGAGCTCAAAGGAAAGGCCAGATGTCAGAATCTGAGAAGCTGGCCACATGAGAGCAGGGAGCACCCTGGCCTGTGTTGGTCTGAACTTTGGTCTCAGAAAATTGTTAAACTCCTCCAGACACACAGACGGCCCGAGTCAGTGACAAGGGATTTCAGTAACATCTTAGCTACCCCTTTGCTATACAGTGGGGAAACTGAGGCCCAGAGAGGAGCAGCACACACCTTCAATTGCTGGGCAGCTCCAGAGCCCTTAAGGAGCCATTTTCTTTGTCATTTAGGGACCCTCAGCTCCTCTGCCATGCAGAAGTAGCTGCAGTTCTGGTACAAACCTGCATTTCCTGCCAAGAAAGCCAACTCAGGTGGGCGGTACCAGGAGGCTAAGGCTGAGTCAGGGAGCAGTCAAGCAGTCATATTTATAACAAGGCCACCACAGGAATCCCACTGCTCCAGGCCGGAAGGGATCCTGGGGGCAACTCCTCCCACCCCCAGCCCGCCTCCCTGTGCTTGAGTCCTCTAATGTGATTTCAACCTCCCCCGCCATCCCCCAATAGCCTAACCCTACTCTGTCAGGTTGAGACTTGGACTAGTGGGTTCAAATTCTGGCGGGGTGCCCTCCTCTGTAGAACGAGGAGAAGGTGGCGTCCTTGCAGAGTGATCGTGAGGACCAAGTGAGTCCTGTGTGCTGTGAAGAGTAAGAAGTACAGTGCTCCACGCCGGGTCCGTGATGGTTGCTCCACAGTCAGCCCCTCCTTTGGGGGCGTGCAGGCAGTTGTCTGTCTCTCCTGCTAGCATGAAGAGGCAGGGGCAGGGTGTGCATGGTTCATGTCTGCGTCCGCAGCATCTAGCACACAACAGGTGCTCTCTGGCTTGCACTCTGTGGCTCATAACCTTTGTTTTCTCCTTTGTGTGAGCTTGTGTGTGTGAAAGAGATGTCCCGTTGTGCGCCATATTTCCTGAGGACAACCTGGCACACGGTGCCCACATGACTGCTGAATGCTGGAAACCTTACCCAGCTCCCACTGTGCAGACAGCAGTGCCCACCTCCGCTCCTCGGTGCCTCCCACCTCCCCACCCAGAATAACGCGGCGGTCCCTGTGCTTGTCCCGCAGACGCCAGCATGTCTCCGGACGCCACCAAGCCGAGCCACTGGTGCAGCGTGGCGTACTGGGAGCACCGGACGCGCGTGGGCCGCCTCTATGCGGTGTACGACCAGGCCGTCAGCATCTTCTACGACCTACCTCAGGGCAGCGGCTTCTGCCTGGGCCAGCTCAACCTGGAGCAGCGCAGCGAGTCGGTGCGGCGAACGCGCAGCAAGATCGGCTTCGGCATCCTGCTCAGCAAGGAGCCCGACGGCGTGTGGGCCTACAACCGCGGCGAGCACCCCATCTTCGTCAACTCCCCGACGCTGGACGCGCCCGGCGGCCGCGCCCTGGTCGTGCGCAAGGTGCCCCCCGGCTACTCCATCAAGGTGTTCGACTTCGAGCGCTCGGGCCTGCAGCACGCGCCCGAGCCCGACGCCGCCGACGGCCCCTACGACCCCAACAGCGTCCGCATCAGCTTCGCCAAGGGCTGGGGGCCCTGCTACTCCCGGCAGTTCATCACCTCCTGCCCCTGCTGGCTGGAGATCCTCCTCAACAACCCCAGATAGTGGCGGCCCCGGCGGGAGGGGCGGGTGGGAGGCCGCGGCCACCGCCACCTGCCGGCCTCGAGAGGGGCCGATGCCCAGAGACACAGCCCCCACGGACAAAACCCCCCAGATATCATCTACCTAGATTTAATATAAAGTTTTATATATTATATGGAAATATATATTATACTTGTAATTATGGAGTCATTTTTACAATGTAATTATTTATGTATGGTGCAATGTGTGTATATGGACAAAACAAGAAAGACGCACTTTGGCTTATAATTCTTTCAATACAGATATATTTTCTTTCTCTTCCTCCTTCCTCTTCCTTACTTTTTATATATATATATAAAGAAAATGATACAGCAGAGCTAGGTGGAAAAGCCTGGGTTTGGTGTATGGTTTTTGAGATATTAATGCCCAGACAAAAAGCTAATACCAGTCACTCGATAATAAAGTATTCGCATTATAGTTTTTTTTAAACTGTCTTCTTTTTACAAAGAGGGGCAGGTAGGGCTTCAGCGGATTTCTGACCCATCATGTACCTTGAAACTTGACCTCAGTTTTCAAGTTTTACTTTTATTGGATAAAGACAGAACAAATTGAAAAGGGAGGAAAGTCACATTTACTCTTAAGTAAACCAGAGAAAGTTCTGTTGTTCCTTCCTGCCCATGGCTATGGGGTGTCCAGTGGATAGGGATGGCGGTGGGGAAAAGAATACACTGGCCATTTATCCTGGACAAGCTCTTCCAGTCTGATGGAGGAGGTTCATGCCCTAGCCTAGAAAGGCCCAGGTCCATGCCCCCCATCTTTGAGTTATGAGCAAGCTAAAAGAAGACACTATTTCTCACCATTTTGTGGAAATGGCCTGGGGAACAAAGACTGAAATGGGCCTTGAGCCCACCTGCTACCTTGCAGAGAACCATCTCGAGCCCCGTAGATCTTTTTAGGACCTCCACAGGCTATTTCCCACCCCCCAGCCAAAAATAGCTCAGAATCTGCCCATCCAGGGCTGTATTAATGATTTATGTAAAGGCAGATGGTTTATTTCTACTTTGTGAAAGGGAAAAGTTGAGGTTCTGGAAGGTTAAATGATTTGCTCATGAGACAAAATCAAGGTTAGAAGTTACATGGAATTGTAGGACCAGAGCCATATCATTAGATCAGCTTTCTGAAGAATATTCTCAAAAAAAGAAAGTCTCCTTGGCCAGATAACTAAGAGGAATGTTTCATTGTATATCTTTTTTCTTGGAGATTTATATTAACATATTAAGTGCTCTGAGAAGTCCTGTGTATTATCTCTTGCTGCATAATAAATTATCCCCAAACTTAGCAGCTTAAAATAACTAACATTTATTATCTCCCACAGTTTCTGCAGGTCAGGAATCTGGGAGCAGCTTAGCCAAGTGGTTCTGGCTCGGGGTCTCTGGTGAGGTTGCCATCAAGCTGTCGGCCAGGGCTGCAGTCATCTGAGTCTTGACTGGGTCTGGGGGACCTGCTCCAAGCTCGCTCATGTAGCTGCTGGCAGGAGCCCTCAGTTCCCTGCCATGTGGGCATCTCCACTGGACTACTTATAACATGGCTTCCCCAGAACAAATGATCCAAAAGAGCAAGGGTGAAGTTGCTGGGGTTTTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTGAGACGGGGTCTTACTGTGTCACCCAGGCTGGAATGCAGTGGCCCCATCATGACTCACTGCAGCCTCAAACTCCCTGGGCTCAGGTGATCCTCCTGCATCAGCCCCTGAGTAGCTGGGACTACAGGTGCACACCATCATGTCTGGCTAAGTTTTGTATTTTTGGTAGAGATGGGATTTCACCATGTTGCCTAGGCTGGTCTTGAAATCCTGAGCTCAAATGATCCTCCCACTTCGGCCCCACAAAGTGTTGTGATTATAGACATGAGCCACCATGCCCAACCTAAGCTGCTGTCTTCTGTAACTAGATCTCAGTAGTGACATACCATCGCTTCTGCCATACTTATTGGTCATACAAACC
GGGGCACACTCATGAAACCTGTATCCAGCCCAAAGCCACAGCAGAGCAGTCAGCCTCCAGGAGGCCCCTGAGGCAGACAGCCTCCTGCTGGGTGGCTGGGCGGGCCTCCCAGTGTGTAAGGGGATGTCAGGGGCCCTGCCACCCTGTTCTTCTGGGGCTTCTAGGCAGGGGCAAGACCAAGGCAAAGGCGTCCAGAGCTGGCCTCACTCAGGCTCCCAGGTGAAGCTGTTAGAAGTGTTGTCCTCTGGGATTTGGTTGGACTTTGATCAGTTTTCCTCAGAAAAAGAGCCATGAATTGCTTTGCTTTGCTCTGTCAAGCCTCCAGCAGAACGCCTCCCTCTGCACAGGCCCAGGCCAGAGACCTGTGTGGAAGCAGGCATGGCAGGCAAATCATGTCACCTCACTGGGCAGTTATAGGTGCCTGCCTGCTTCTCAGAGCTGTGAGCTCAAAGGAAAGGCCAGATGTCAGAATCTGAGAAGCTGGCCACATGAGAGCAGGGAGCACCCTGGCCTGTGTTGGTCTGAACTTTGGTCTCAGAAAATTGTTAAACTCCTCCAGACACACAGACGGCCCGAGTCAGTGACAAGGGATTTCAGTAACATCTTAGCTACCCCTTTGCTATACAGTGGGGAAACTGAGGCCCAGAGAGGAGCAGCACACACCTTCAATTGCTGGGCAGCTCCAGAGCCCTTAAGGAGCCATTTTCTTTGTCATTTAGGGACCCTCAGCTCCTCTGCCATGCAGAAGTAGCTGCAGTTCTGGTACAAACCTGCATTTCCTGCCAAGAAAGCCAACTCAGGTGGGCGGTACCAGGAGGCTAAGGCTGAGTCAGGGAGCAGTCAAGCAGTCATATTTATAACAAGGCCACCACAGGAATCCCACTGCTCCAGGCCGGAAGGGATCCTGGGGGCAACTCCTCCCACCCCCAGCCCGCCTCCCTGTGCTTGAGTCCTCTAATGTGATTTCAACCTCCCCCGCCATCCCCCAATAGCCTAACCCTACTCTGTCAGGTTGAGACTTGGACTAGTGGGTTCAAATTCTGGCGGGGTGCCCTCCTCTGTAGAACGAGGAGAAGGTGGCGTCCTTGCAGAGTGATCGTGAGGACCAAGTGAGTCCTGTGTGCTGTGAAGAGTAAGAAGTACAGTGCTCCACGCCGGGTCCGTGATGGTTGCTCCACAGTCAGCCCCTCCTTTGGGGGCGTGCAGGCAGTTGTCTGTCTCTCCTGCTAGCATGAAGAGGCAGGGGCAGGGTGTGCATGGTTCATGTCTGCGTCCGCAGCATCTAGCACACAACAGGTGCTCTCTGGCTTGCACTCTGTGGCTCATAACCTTTGTTTTCTCCTTTGTGTGAGCTTGTGTGTGTGAAAGAGATGTCCCGTTGTGCGCCATATTTCCTGAGGACAACCTGGCACACGGTGCCCACATGACTGCTGAATGCTGGAAACCTTACCCAGCTCCCACTGTGCAGACAGCAGTGCCCACCTCCGCTCCTCGGTGCCTCCCACCTCCCCACCCAGAATAACGCGGCGGTCCCTGTGCTTGTCCCGCAGACGCCAGCATGTCTCCGGACGCCACCAAGCCGAGCCACTGGTGCAGCGTGGCGTACTGGGAGCACCGGACGCGCGTGGGCCGCCTCTATGCGGTGTACGACCAGGCCGTCAGCATCTTCTACGACCTACCTCAGGGCAGCGGCTTCTGCCTGGGCCAGCTCAACCTGGAGCAGCGCAGCGAGTCGGTGCGGCGAACGCGCAGCAAGATCGGCTTCGGCATCCTGCTCAGCAAGGAGCCCGACGGCGTGTGGGCCTACAACCGCGGCGAGCACCCCATCTTCGTCAACTCCCCGACGCTGGACGCGCCCGGCGGCCGCGCCCTGGTCGTGCGCAAGGTGCCCCCCGGCTACTCCATCAAGGTGTTCGACTTCGAGCGCTCGGGCCTGCAGCACGCGCCCGAGCCCGACGCCGCCGACGGCCCCTACGACCCCAACAGCGTCCGCATCAGCTTCGCCAAGGGCTGGGGGCCCTGCTACTCCCGGCAGTTCATCACCTCCTTCCCCTGCTGGCTGGAGATCCTCCTCAACAACCCCAGATAGTGGCGGCCCCGGCGGGAGGGGCGGGTGGGAGGCCGCGGCCACCGCCACCTGCCGGCCTCGAGAGGGGCCGATGCCCAGAGACACAGCCCCCACGGACAAAACCCCCCAGATATCATCTACCTAGATTTAATATAAAGTTTTATATATTATATGGAAATATATATTATACTTGTAATTATGGAGTCATTTTTACAATGTAATTATTTATGTATGGTGCAATGTGTGTATATGGACAAAACAAGAAAGACGCACTTTGGCTTATAATTCTTTCAATACAGATATATTTTCTTTCTCTTCCTCCTTCCTCTTCCTTACTTTTTATATATATATATAAAGAAAATGATACAGCAGAGCTAGGTGGAAAAGCCTGGGTTTGGTGTATGGTTTTTGAGATATTAATGCCCAGACAAAAAGCTAATACCAGTCACTCGATAATAAAGTATTCGCATTATAGTTTTTTTTAAACTGTCTTCTTTTTACAAAGAGGGGCAGGTAGGGCTTCAGCGGATTTCTGACCCATCATGTACCTTGAAACTTGACCTCAGTTTTCAAGTTTTACTTTTATTGGATAAAGACAGAACAAATTGAAAAGGGAGGAAAGTCACATTTACTCTTAAGTAAACCAGAGAAAGTTCTGTTGTTCCTTCCTGCCCATGGCTATGGGGTGTCCAGTGGATAGGGATGGCGGTGGGGAAAAGAATACACTGGCCATTTATCCTGGACAAGCTCTTCCAGTCTGATGGAGGAGGTTCATGCCCTAGCCTAGAAAGGCCCAGGTCCATGCCCCCCATCTTTGAGTTATGAGCAAGCTAAAAGAAGACACTATTTCTCACCATTTTGTGGAAATGGCCTGGGGAACAAAGACTGAAATGGGCCTTGAGCCCACCTGCTACCTTGCAGAGAACCATCTCGAGCCCCGTAGATCTTTTTAGGACCTCCACAGGCTATTTCCCACCCCCCAGCCAAAAATAGCTCAGAATCTGCCCATCCAGGGCTGTATTAATGATTTATGTAAAGGCAGATGGTTTATTTCTACTTTGTGAAAGGGAAAAGTTGAGGTTCTGGAAGGTTAAATGATTTGCTCATGAGACAAAATCAAGGTTAGAAGTTACATGGAATTGTAGGACCAGAGCCATATCATTAGATCAGCTTTCTGAAGAATATTCTCAAAAAAAGAAAGTCTCCTTGGCCAGATAACTAAGAGGAATGTTTCATTGTATATCTTTTTTCTTGGAGATTTATATTAACATATTAAGTGCTCTGAGAAGTCCTGTGTATTATCTCTTGCTGCATAATAAATTATCCCCAAACTTAGCAGCTTAAAATAACTAACATTTATTATCTCCCACAGTTTCTGCAGGTCAGGAATCTGGGAGCAGCTTAGCCAAGTGGTTCTGGCTCGGGGTCTCTGGTGAGGTTGCCATCAAGCTGTCGGCCAGGGCTGCAGTCATCTGAGTCTTGACTGGGTCTGGGGGACCTGCTCCAAGCTCGCTCATGTAGCTGCTGGCAGGAGCCCTCAGTTCCCTGCCATGTGGGCATCTCCACTGGACTACTTATAACATGGCTTCCCCAGAACAAATGATCCAAAAGAGCAAGGGTGAAGTTGCTGGGGTTTTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTGAGACGGGGTCTTACTGTGTCACCCAGGCTGGAATGCAGTGGCCCCATCATGACTCACTGCAGCCTCAAACTCCCTGGGCTCAGGTGATCCTCCTGCATCAGCCCCTGAGTAGCTGGGACTACAGGTGCACACCATCATGTCTGGCTAAGTTTTGTATTTTTGGTAGAGATGGGATTTCACCATGTTGCCTAGGCTGGTCTTGAAATCCTGAGCTCAAATGATCCTCCCACTTCGGCCCCACAAAGTGTTGTGATTATAGACATGAGCCACCATGCCCAACCTAAGCTGCTGTCTTCTGTAACTAGATCTCAGTAGTGACATACCATCGCTTCTGCCATACTTATTGGTCATACAAACC
Task1_train_21630
The gene LOC130057352, SMAD3 (ATAC-STARR-seq lymphoblastoid silent region 6574| SMAD family member 3) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Aortic aneurysm
ACGGGAAGAGGAGAGTGAAACCTAAGACCACAGCGGCAGCGCGTTAACAGGAGGACCAGCAAGGAACGGAAGCCAGGTTGTCAAGCCTCAGTTGGCTTTCACGTATTCTCCTTTTCAGGCGGGTATTTAGGAAGAGAGGAGGGTGAGGAGCACAGCGCACTTCTGCAGCAGCAGCTGCGGATTGGCTTGTGGGAGGCGGTTCTCCGGAGCAAGGCAAGGGCCCCTGCCGCTTCTGGGCTGACTGTGGATTCCGCCACACCTCACAGGGCTTTGTAACTCCCCACCCACTTGAGGGTTCCAGATAACTTTTTTTTTTTAACAAAGCAGGGGTGGGGGTGGGAGATTCCTGCTGTTAAAAACAAACAAAGGGCTTAGACACCGGCTAGTCGGCTGCGGGAGGCAGCAAGAGAAAGGCCGAGGGGCCTGGAGTAGCTCCTGAAAACCGCCGAGGGCCCTGCGGGCAGACGCCCCTGAATTCTTTTGGTGGGGAGAAAAGCCGCGGAGCTCCCCAATGTGCCAATTGGTTTGTTGTTGTTTTGCTTTTTTTGAATACACAAACTCTCCGAAAACTCCTGTCTTGCCCCACTTTTTTGTGAGTTCATTGCTTTGGAAACAAAACTCTCTTCCATTTATTGGCAATTATCAAATTTCCGATCCTTCTCTATCAGGAGATCCAGCAACAAACACCCTGTTATGTAAATTTCTTTCAAAGATAAATTCGAAAGCCCCTCCATTCATTCCTTCAAGAACTCAACAGATGTCCTTGAGGCTCATTTTCTGCCGGGCACTCGGTTCACAAGGCTCAAGAGACCCCTGGCTCCAGCCATTGTCCAGGTTGTCACTGGTGTCCCCAGCTCTCCACTTCTGAGGACCCACTTCTCACCCCCTCCTCCTCCGCACACGTTCCCGAGGCTCTCGGCCGGTGTGATCTCACCGACTAGAGAATAAAAACAGCCCAGGGGCGCCGGCGCCGGCCAAGGGCCTTGACGGGGATCAGCAAGCGCGAGGCCAAGTGCGGGCCCCAACTTCCTGGGCCCGGGCCTTCCGCGCGCCCCCTCTCGGGCTCGGGTCCTCTCCAGGGTGCACTCGCGTCCGGACGACGCTTACTTGCTGCGAGTCCAACCCTCTCCGGCCCGCAACTCCAACCGAGCCGCCCGAGTGTGGACTCCGAGAGCGGACGCCACGGGCCGCGCTCAGCCCTCCCGCCCGAGGCCCCTCTCGCCGTGTTTCCCAGGACTTCCTCCCCGCGCCCGCCCGACTTCAGGTCGGGGCCGCGCAGGGTCCCGCGCGCTCCAGCCAGGACTGCCGCCGCCCGGGTCGCCCACGTGGGCGTGCTGGGCGCGGGGTGGTGGCCGGCCGGGCGCCCTCCCCGGAGCAGGGGGCGGGCAGGGCGCCCGCGGGAGGAGGTGGCGGGGCGCGGGGGAGGAGGCGGGGAGCCCCGGCGGCGAGGGGGCGGTGACAGCACTTGGAAAGGAGGCTGCACGCGGATTTGCATGAAACACAGACTGGGAGCGGGCGGGAGCGGGAGCGCGGCGCACGCCCCGGGCCGGCCCAGCCAGCGAGCGAGCGAGCGGCGAGCCGGGAGGAGGAGGGTGGCGGGGCGGTGAGGCCGCAGAGGCGGAGGGATCTGCGCATCAAAGCTAGCGAGGCGAGCGAAGTTTGGCCGGGGGTTGGACTTTCCTTCCCGGAGGCGGCACCCAAACAGCTACCCCGTGCGGAAACCCAAACTTCTGCTGCCACTTGGAGTCTCGCGGCCGCCGCCTCCGCCCCGCGTTCGGGGCCTTCCCGACCCTGCACTGCTGCCGTCCGCCCGCCCGGCCGCTCTTCTCTTCGCCGTGGGAGCCGCTCCGGGCGCAGGGCCGCGCGCCGAGCCCCGCAGGCTGCAGCGCCGCGGCCCGGCCCGGCGCCCCGGCAACTTCGCCGAGAGTTGAGGCGAAGTTTGGGCGACCGCGGCAGGCCCCGGCCGAGCTCCCCTCTGCGCCCCCGGCGTCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGCCCTCCCCAGCCATGTCGTCCATCCTGCCTTTCACTCCCCCGATCGTGAAGCGCCTGCTGGGCTGGAAGAAGGGCGAGCAGAACGGGCAGGAGGAGAAATGGTGCGAGAAGGCGGTCAAGAGCCTGGTCAAGAAACTCAAGAAGACGGGGCAGCTGGACGAGCTGGAGAAGGCCATCACCACGCAGAACGTCAACACCAAGTGCATCACCATCCCCAGGTGGGGGCCCGCCCGGGGGGGACCCGGGGTCACGCCGGCCCAGCCCCCTGGCACTGCGGGGCCGACCCAGTGGGGCTGGAGATGGGAAGAGGGAGAGAGAGGGAGGGAGTGAGACTGTGTGGGTGCGTGTGTGTGAGAGTGGGAGAGCGCGGGCAGGAAGGGGGTGGGGGGACCCCAAACAAAACCATCTCTGATTTGCAAAGATCAGAGCCCGAGGCTTCCACGCGGCACTCTGGCTTCCACACCTCACATTCCCTTTCCACCTCCGGGAGGGGAGAGCGGGTTGCTGCGGGACTCGGCCGCCCCCACTCCGGGGAGCTGGGGCTGGAAGTTGAGGCCCGCTTTGTTCGGCTCCGCGGGCCGGAGCCCCTCCTCCGCCGCCGCCTCCCGCCCCCGCGGCCCGCGCTCGTGGAGGTGGTGGTGTCTTTGCGTTTCTTTTCTTCAGTCGGGTCTCCCCACTTTCCTCTACAGGAATGCGGTCCGTACAGCTGGGGCTGTGGGTGAGGAGCGGGAGCCTAGTGATTGACAGATTCCTTCTTCGTTCTTTCTTTGCCTTCGGGATTAGCATTTTTATCGAGTATTTTTAGACTCGGTTGTGCCAGTCTCCCGCCCCCTGAGCATGCACGCACTTTGGTTGCAGTGCAATGCTCTGACTTCCAAATGGGAGAGACAAGTGGCGGAAAATAGGGTCTTCTCCCACCTCCCACCCCCCCATCCCGACTCTTTTGCCCTTCTTTTGGTCCAAGAGATTTTGAAACCGTGCAGAACGAGGGAGAGGGGCAGGCTGCAGCCGGGCAGATAACAAAACACACCCCAAAGTGGGCCTCGCATCGGCCCTCGCATTCCTGTAGAGCCTTCCTTCCCAAAGCGCGCTGCCATCTGTCTGGATCTCCTTTATCCTTCCCGTTGCGCGCTAGCTAGGTCGGGCGGGAGCCCACAGATGGCTGATAGAAGGGGTCAGTGACTTCACTCCCCCAGGGCCTTCCTTAGCTTAGATGTGCCTGGCTGGGAACTGGGGGTGCGGGTACCTTGGCTTCCTGTCTCTACCTCTCAGCCTCCTTTGATGCTGAACCAAGGGAGAGAGCGTGTGTGTTGGGGGCTGGCTCTTTTGGGGGTCCCAGGCTGCCGAGGAATGAGTAGAAAGCACCAGGGACTGTCAGCCGCAAAGGGATTGTCATCCCTGCTCCTGGGCCAGGGTGGACTCCATCCTTGGCCACCTGCTTGGGGCAGTTGTACAGGGGCTGCCAGGCGAGTCAGGCAGGCACAAAGCAACATCTGTCCACGGGAACCGAGGGCAGGCCTCCCCTGGAAATAAATGCCACATATGGTGGGAGTGCGGACTTAAATTTTTTTTAACTGGGTGGATCCAGTCAATAAAGGGGGAGGGAAGGCGGTGTGCTGTCTGGGGAAGTCTCTGGGCGTGTGATCGGGAGCCAGAATTGACTTCAGAGGAGGTGGTGTGATGTGATGGTCAGAGAGACCTGGGATTTGGTTCCAGCTCTGGTTGTTAATTCTTCTGTATTCCTTCCGTGGGGGTGGCTAGGGTAGAGTGGGTGAGTATGCTACTTCTCTTTCTGGGGAGGGGTCTGCCAAACCTACCTTCTCCTTATCTGCCTGGGTGCATTGAAGACAAGTGCTTTATGTATTGAAACAGAAGAAAAAAAGTGGTATCAATTGTAAAACAGGCAGCTGTGAAAAGTGTTTCACAGTTTACAAAGCACTTTCACATGGTTTTCTGAGGTCCTCAAAAAAAGACAGAAAGCAAGCAAGCAACCAGCCATGGAAAGTAGATAAGGTTGTTAGGCTTAAGATTATCACATTTTTAAAGCAGAGGAAACCTTA
ACGGGAAGAGGAGAGTGAAACCTAAGACCACAGCGGCAGCGCGTTAACAGGAGGACCAGCAAGGAACGGAAGCCAGGTTGTCAAGCCTCAGTTGGCTTTCACGTATTCTCCTTTTCAGGCGGGTATTTAGGAAGAGAGGAGGGTGAGGAGCACAGCGCACTTCTGCAGCAGCAGCTGCGGATTGGCTTGTGGGAGGCGGTTCTCCGGAGCAAGGCAAGGGCCCCTGCCGCTTCTGGGCTGACTGTGGATTCCGCCACACCTCACAGGGCTTTGTAACTCCCCACCCACTTGAGGGTTCCAGATAACTTTTTTTTTTTAACAAAGCAGGGGTGGGGGTGGGAGATTCCTGCTGTTAAAAACAAACAAAGGGCTTAGACACCGGCTAGTCGGCTGCGGGAGGCAGCAAGAGAAAGGCCGAGGGGCCTGGAGTAGCTCCTGAAAACCGCCGAGGGCCCTGCGGGCAGACGCCCCTGAATTCTTTTGGTGGGGAGAAAAGCCGCGGAGCTCCCCAATGTGCCAATTGGTTTGTTGTTGTTTTGCTTTTTTTGAATACACAAACTCTCCGAAAACTCCTGTCTTGCCCCACTTTTTTGTGAGTTCATTGCTTTGGAAACAAAACTCTCTTCCATTTATTGGCAATTATCAAATTTCCGATCCTTCTCTATCAGGAGATCCAGCAACAAACACCCTGTTATGTAAATTTCTTTCAAAGATAAATTCGAAAGCCCCTCCATTCATTCCTTCAAGAACTCAACAGATGTCCTTGAGGCTCATTTTCTGCCGGGCACTCGGTTCACAAGGCTCAAGAGACCCCTGGCTCCAGCCATTGTCCAGGTTGTCACTGGTGTCCCCAGCTCTCCACTTCTGAGGACCCACTTCTCACCCCCTCCTCCTCCGCACACGTTCCCGAGGCTCTCGGCCGGTGTGATCTCACCGACTAGAGAATAAAAACAGCCCAGGGGCGCCGGCGCCGGCCAAGGGCCTTGACGGGGATCAGCAAGCGCGAGGCCAAGTGCGGGCCCCAACTTCCTGGGCCCGGGCCTTCCGCGCGCCCCCTCTCGGGCTCGGGTCCTCTCCAGGGTGCACTCGCGTCCGGACGACGCTTACTTGCTGCGAGTCCAACCCTCTCCGGCCCGCAACTCCAACCGAGCCGCCCGAGTGTGGACTCCGAGAGCGGACGCCACGGGCCGCGCTCAGCCCTCCCGCCCGAGGCCCCTCTCGCCGTGTTTCCCAGGACTTCCTCCCCGCGCCCGCCCGACTTCAGGTCGGGGCCGCGCAGGGTCCCGCGCGCTCCAGCCAGGACTGCCGCCGCCCGGGTCGCCCACGTGGGCGTGCTGGGCGCGGGGTGGTGGCCGGCCGGGCGCCCTCCCCGGAGCAGGGGGCGGGCAGGGCGCCCGCGGGAGGAGGTGGCGGGGCGCGGGGGAGGAGGCGGGGAGCCCCGGCGGCGAGGGGGCGGTGACAGCACTTGGAAAGGAGGCTGCACGCGGATTTGCATGAAACACAGACTGGGAGCGGGCGGGAGCGGGAGCGCGGCGCACGCCCCGGGCCGGCCCAGCCAGCGAGCGAGCGAGCGGCGAGCCGGGAGGAGGAGGGTGGCGGGGCGGTGAGGCCGCAGAGGCGGAGGGATCTGCGCATCAAAGCTAGCGAGGCGAGCGAAGTTTGGCCGGGGGTTGGACTTTCCTTCCCGGAGGCGGCACCCAAACAGCTACCCCGTGCGGAAACCCAAACTTCTGCTGCCACTTGGAGTCTCGCGGCCGCCGCCTCCGCCCCGCGTTCGGGGCCTTCCCGACCCTGCACTGCTGCCGTCCGCCCGCCCGGCCGCTCTTCTCTTCGCCGTGGGAGCCGCTCCGGGCGCAGGGCCGCGCGCCGAGCCCCGCAGGCTGCAGCGCCGCGGCCCGGCCCGGCGCCCCGGCAACTTCGCCGAGAGTTGAGGCGAAGTTTGGGCGACCGCGGCAGGCCCCGGCCGAGCTCCCCTCTGCGCCCCCGGCGTCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGCCCTCCCCAGCCGTGTCGTCCATCCTGCCTTTCACTCCCCCGATCGTGAAGCGCCTGCTGGGCTGGAAGAAGGGCGAGCAGAACGGGCAGGAGGAGAAATGGTGCGAGAAGGCGGTCAAGAGCCTGGTCAAGAAACTCAAGAAGACGGGGCAGCTGGACGAGCTGGAGAAGGCCATCACCACGCAGAACGTCAACACCAAGTGCATCACCATCCCCAGGTGGGGGCCCGCCCGGGGGGGACCCGGGGTCACGCCGGCCCAGCCCCCTGGCACTGCGGGGCCGACCCAGTGGGGCTGGAGATGGGAAGAGGGAGAGAGAGGGAGGGAGTGAGACTGTGTGGGTGCGTGTGTGTGAGAGTGGGAGAGCGCGGGCAGGAAGGGGGTGGGGGGACCCCAAACAAAACCATCTCTGATTTGCAAAGATCAGAGCCCGAGGCTTCCACGCGGCACTCTGGCTTCCACACCTCACATTCCCTTTCCACCTCCGGGAGGGGAGAGCGGGTTGCTGCGGGACTCGGCCGCCCCCACTCCGGGGAGCTGGGGCTGGAAGTTGAGGCCCGCTTTGTTCGGCTCCGCGGGCCGGAGCCCCTCCTCCGCCGCCGCCTCCCGCCCCCGCGGCCCGCGCTCGTGGAGGTGGTGGTGTCTTTGCGTTTCTTTTCTTCAGTCGGGTCTCCCCACTTTCCTCTACAGGAATGCGGTCCGTACAGCTGGGGCTGTGGGTGAGGAGCGGGAGCCTAGTGATTGACAGATTCCTTCTTCGTTCTTTCTTTGCCTTCGGGATTAGCATTTTTATCGAGTATTTTTAGACTCGGTTGTGCCAGTCTCCCGCCCCCTGAGCATGCACGCACTTTGGTTGCAGTGCAATGCTCTGACTTCCAAATGGGAGAGACAAGTGGCGGAAAATAGGGTCTTCTCCCACCTCCCACCCCCCCATCCCGACTCTTTTGCCCTTCTTTTGGTCCAAGAGATTTTGAAACCGTGCAGAACGAGGGAGAGGGGCAGGCTGCAGCCGGGCAGATAACAAAACACACCCCAAAGTGGGCCTCGCATCGGCCCTCGCATTCCTGTAGAGCCTTCCTTCCCAAAGCGCGCTGCCATCTGTCTGGATCTCCTTTATCCTTCCCGTTGCGCGCTAGCTAGGTCGGGCGGGAGCCCACAGATGGCTGATAGAAGGGGTCAGTGACTTCACTCCCCCAGGGCCTTCCTTAGCTTAGATGTGCCTGGCTGGGAACTGGGGGTGCGGGTACCTTGGCTTCCTGTCTCTACCTCTCAGCCTCCTTTGATGCTGAACCAAGGGAGAGAGCGTGTGTGTTGGGGGCTGGCTCTTTTGGGGGTCCCAGGCTGCCGAGGAATGAGTAGAAAGCACCAGGGACTGTCAGCCGCAAAGGGATTGTCATCCCTGCTCCTGGGCCAGGGTGGACTCCATCCTTGGCCACCTGCTTGGGGCAGTTGTACAGGGGCTGCCAGGCGAGTCAGGCAGGCACAAAGCAACATCTGTCCACGGGAACCGAGGGCAGGCCTCCCCTGGAAATAAATGCCACATATGGTGGGAGTGCGGACTTAAATTTTTTTTAACTGGGTGGATCCAGTCAATAAAGGGGGAGGGAAGGCGGTGTGCTGTCTGGGGAAGTCTCTGGGCGTGTGATCGGGAGCCAGAATTGACTTCAGAGGAGGTGGTGTGATGTGATGGTCAGAGAGACCTGGGATTTGGTTCCAGCTCTGGTTGTTAATTCTTCTGTATTCCTTCCGTGGGGGTGGCTAGGGTAGAGTGGGTGAGTATGCTACTTCTCTTTCTGGGGAGGGGTCTGCCAAACCTACCTTCTCCTTATCTGCCTGGGTGCATTGAAGACAAGTGCTTTATGTATTGAAACAGAAGAAAAAAAGTGGTATCAATTGTAAAACAGGCAGCTGTGAAAAGTGTTTCACAGTTTACAAAGCACTTTCACATGGTTTTCTGAGGTCCTCAAAAAAAGACAGAAAGCAAGCAAGCAACCAGCCATGGAAAGTAGATAAGGTTGTTAGGCTTAAGATTATCACATTTTTAAAGCAGAGGAAACCTTA
Task1_train_21631
Consider this mutation in SMAD3 (SMAD family member 3) on Chromosome 15. Is this a benign change or a disease-causing variant?
Pathogenic; Aneurysm-osteoarthritis syndrome
TTGCCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCT
TTGCCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCATCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCT
Task1_train_21632
An alteration has been detected in SMAD3 (SMAD family member 3) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
CCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCT
CCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGTCCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCT
Task1_train_21633
A variant has been detected on Chromosome 15 in SMAD3 (SMAD family member 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
ACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGC
ACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACGCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGC
Task1_train_21634
This genomic variant is located on Chromosome 15, within the SMAD3 (SMAD family member 3) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Aneurysm-osteoarthritis syndrome
GGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTG
GGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAAGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTG
Task1_train_21635
The gene SMAD3 (SMAD family member 3), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTGTGGACTCTGAGCCACCAGCACCC
CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACATGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTGTGGACTCTGAGCCACCAGCACCC
Task1_train_21636
This sequence change occurs on Chromosome 15, altering SMAD3 (SMAD family member 3). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Aneurysm-osteoarthritis syndrome
CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTGTGGACTCTGAGCCACCAGCACCC
CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACATGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTGTGGACTCTGAGCCACCAGCACCC
Task1_train_21637
Chromosome 15 houses a mutation in gene SMAD3 (SMAD family member 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Ehlers-Danlos syndrome
CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTGTGGACTCTGAGCCACCAGCACCC
CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACACACCTTCAGAAGGTCTGATGAGCAGGGATCCTCCCAGTGGGTTCCCCCTCCTAGACGTTGCCTGGCATCCAGTGAGCAGGGTTCTCAGGCCAGGGCTGAGACGTGGGCATGGGGAGCGTCTCCTGTTCCTCCCTGAGGAGGAACCCTCAGCCCCATGCTGAGGGTTAAAGCGAGGGAGGAGAGATGTCAGCCTGGGCCCTGGGACCTCATGGTCAAGTTGGACAGTCAGGATGCTCACAGAGAGGCACACCCTTAGTAACTGCGTCGCTTCGGGTATATTTAAGAGCCAGAGGGACTTCAGAGGCAGGCTGAAGCTTTGAGATGGAAGAGCGAGAATGAGCAGGGGACTCCCTAATTCTTCAGCAGATGGATGGAATTCAGGTAGGCATCAAGCAGAGTGTCGTAGGCTAAGGGCTCGCGCCCAGCAGTCAGTGCAGTGCAGAGAAGCAGTTGGAAGAGGTTGGCCCAGGGCGCAGGGCAGTCCTGGTCCAGAGGCTGTGGCATCGGTGTGAGTGGGAATTCCGAGGGCCCGGCCAAGGGCTGAGAGAATGGGCCTGGAGATGCTGCAGAGGCGTGCAGTAGGAGGGCACAGTGCCAGGGCCACTGGGCCGGGGCAAGAGGAGGGCGAGGAGGCCCCAGGAAATGGAAGGCTGGGATCCATTTCTAGTGTGAGGAGAAGCTGCCATTTACTCTTCTGAGAAAGAGAACCAGCCCCTTGTAGAATGGCAGTTTTGCTTTGAGGAGCCCCTAATGGAGACTGTACAGACAACTGGGACAAATACAGATTTTCTTTCAGAAGGGTTTGTGTCCGAGCCACCCCAACAGCCGGCATCTAGATAAGTGTGGAAAATAGTTTCTGTGATAGGAGGCATGGCCCCAGGCTCAGTCTGCAGATGATGCCTGGTGTGTCCACTGCGCCAACATGGGGCGCTGTTGGGAACCCACTCGGCTGCTGCAGGCTTGGAAGCTGCTGCTCCACAGGCTGGGAGTTTTTGCCCCCAAGGCTGTGCAGAGCCAAAATCTGAAAGCCCTTTTAGGGGCAGGGATTAATGTGGGTTACTCTGGGGACCTTGCAACAGAGGCTGAGAGGTGACTGTGCAGGAGGTGTGGCCTGCCCCACAGTGAGTACACGCAGTGGCTGTCCCAGGTTCATCCAGGTACTGGGTGGCCCCTGGTCCTCTTCAGGTTTGGCCCAGCCCCTCCTTGAAGACTCCTTCCATCCAGTCAAGGCCAAGCAGGCGGGGCAGGGCCTTTATGAGCTAAATAAATAAATAAATAAATAAATAAATAAATAAAAAGAGAAATCAATGGCCCTTTACACACAAGGCTGATGGAATCTCCTCCAGACACCTGAGCATCTTGTTCTGGTGGCTCTTGCCAGTTTTATACGATAAAAGGCATGGGGTAGGGAGATTATAATCCCTCTGAAATGCGGGGAAATGGTTTTCCAGAGTGTCCATGGGACCCCATCGAGGGAGCATGGGGCTTGGGACACCCAATGACCCAGTAGCCCACCCTGTGTCCACAGACCTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTGAACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACATGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCCCCCCCACCCTGCCCCTGCCACTCTATCCCACCCCCAGCCCCAGGCCTGAACACACAGCCTCTGAAGGGAACCTTGCGTCCATCCTTAGCTGTGCTCTGCCTCCTGCTGGGCATGGGGGAAGACTCACTGCCCCAGCAAGTCCCCTACACTCTCTGTTGCCCTGTTTAGGGGCCAGACAGGTAGTGTTCAGGCCACTTGATCATTCCCACTCAAAGATATAATCTCAGAAAATCTGGAAGCCACAGAGGAAAATAGTTCATCTAAGGGATCAAGAAGGGAACGTCTATGAGAAAGGCAACATATGAAATCTATTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTTTATCCAGGCTGGAGTGCAATGGCACAATCTTGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCAACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAAATCCTCTAAATAAAAATACTCTGAAAGTACAGATGGATAGGTTGATAAGTAGGCAGTCATTGTTGGAAGAGTGATCTTCTCTTATTTTCATGTATCATTATTCTAAACAATTTAGAAAAGGTAGAAAAGAATTGTCCACTATCCAAACACCACTACTGTGAACCTTCTGCCTTCTAGCCCCCAGAACATAAGTAAAAGATGACTTTGTGAGTTTAAGGAAGATGAAGCTGTGTTACGCATCACTTGGTTTGCTTATGAAGTTATCAAGCTTAGAGGATTTTACGATCCAGAATCACAACTGTCAGAACTTAGAAGGGCTGTAGAGAGATGGCAGAGTGAGGTTTTCTCAGACCTTGTCCTGGAGCCCCAAGGGTTGGCAAAGGGTTCCTGCGGCAAACTCAGGAGGTGGGCAGGTTAGCAAAGGGAAGCCTGGTCCCACGTGAACCAGGGCACCTCTGCACTCGCTTGCTTTATATCTCGGGCTCTCACAGAAGACTTCATTTGAAGAGAGGATTGATTCTGTAGTGAAGAGAAGAAAAGTTTGGAGGCCATGGGCCTAGGTCTGTGCTCTCATTTTCTAGGAAAGGGACCTGATGTCTAGGGGGTTGGGGAGGGTAGGGAACGGCTCTGCAGAGACCTCATTGTCAGTGACAGACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGACCAAGTCTCGCTCTTGTCTCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGATATGGGGATTCACCACGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAGGTACTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTATTTTTTTAAGTTACTGAAACGAAACAAACATTTTTGGTCTGGGTCTTCGCATCCCCACCTCTGCCTTCTGCTCTTACTGACATGATACAGTTGTGGACAGCCAGGAAGTCATCCCTCCTGTGGACTCTGAGCCACCAGCACCC
Task1_train_21638
Here is a genetic alteration in SMAD3 (SMAD family member 3) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
GTCTGCTTGGTTGAATCTCTCAGGCCATCCTGCTTTGGGTTTAGAGAATCCAGTCCCTTTTCTTTCCACTCACGGACCAAAGTTTGCGGAGAGGCAGGGCTGTGTGCCCCCGCCTTCTGCTCCACACTCCCCCCTGCCAGCCGCCAGCTCCTGCGGCAGATGCAGAGGTGCCCACATGTCAGCTAGAGCCAGCGCCTTGCAAGCTACTCTCCCTTTCTCTTCATTTTTCCAGATGTTTGGAATCCATTTTGTTTTGCAGTCATGCTGCACTCAGGCCAAACCCATTTCAATATTGGCCTTGGGCCACCGTTTGTAATGAAATCCAGATGAGCATGACTTATGGAAAGTCAGATTCTCATTAGAGGATTTCATCCTGTAAAATCCTCCTCTTCCACTTACCGTATTTTAGCTGCTGTTCTTCTGTGTCTGCCCCAGGGTGTCAGGGAACACAGCCCCTTGGTTTCTTGGGTGTCTCTGAAATCCAGGAGTGACCAGTGGAGCAATCAAAGTGGTCAGACCTCAAAAGAACTTACAACTATGTTATGGCCTGAAGAGATCAGCCCAGGCCCAAAGGTCTAGCCAGAGAAATGTTTTAAGCAATCTTTTAGCCCTGGCTTAGCTCATTTAGGGAACAGGAGTGAAAGGTTAGAAAATTAATCTTTTTTTAGTGAAGAAGGGAAATATTTAAAGATGGACTGCAGTGGAAAAGAGTAAGGGGATGTCCATTTGCTCTTCTTATACCAGACTGTAGTCTGGAGGGCCACACTCAGGTACCCTCGCTCGTGCAGACACCCCAGGGTCTGTCTGCAGGCCCATTTCTCAACCTCCCTGCTACACAAGCAAAGTAGAGGCCAAGCAAGGAGGGTGGTGCCTTCAAGACAGCAACACTGTTCCTGGTGTGGCATTGCAGCTCTCCCGCTCCAAGTGCTAGGAAGAGGCTCTTTGGTGGCAGAGCCTTTCCCTGGGGACACTATCACCACGCGGGATGTCCTGCCAGCACACCCAGTCCTCTGTGGCCCACCGCGTCACCGCTGCCTGGCAGCACTGCACAGCAGCCTGACGGGCGGGCGCGGCCCCTTCCCAGAACAGCCTTGTCGTCCTCCTGCCTCTTGGGCCAAGGAGAGTAAGGTTTCAGCTCTTCTCTCTGTGAGGTGGCTGAAAGCAGGGCCCAGGGCCCACACCTCTCACCTCCAGCTGGCACCAGCGACTCCAGCCTCAGCAGATAGCCTTTGCTCAGTGGAGGCCTTTGGGAGCCTGCCTGCAAGCTGCGTCATCAACCAGCCTGAATTTAGACAAAGTGCTTTGGGGAAAAGAAACGTGTGGTGTGCCTTGTTTTTTTCCAGTAATTGTTCCATGGCTCGTTCTGCTTGTAAGATTTTCCAAAATAAGGCCGTAGATGAGAATTATATCAGCACATTGGGAACCGAAGGCATGCGGACACTGTTGGCGCTTTGTAAAAAACACCCCTCAATCAGACAGACACACGTCATCGTCGCCTGCTGGGGCTGGGCCCAGATTTCGAGATAGGGGAGCGGCACGTGCCCGTTTGGTACAGATGGGAGCCAGGAAGCCCTTTGCTCAGGATGGAGGTCTCCTCTATTAGGGGGCCTGTTACAGTAACTGGTGGGCCTCTGGGGTACCCTGCAATTGACTTTACATATTTAACTCTTTGCCATTGACTTTACATGTTTAACTCTTTAAAGTCGACTTCCTTCCCCCTCAAGAGAACTTAATTTACTCAAAGTCCTCCCTGGGTAGAGGAGTTTGGCCGGGTAGTTTCAGCAAGTTACTGGTACCGCTTCTAGGACAGCGTCTAACAGCATCTTTGGGAAGATGACTGTCACCAAAGCAGAAAAAGCTTTCTGACTTGTGTAACCCCCTGGAGATTTTTTAAGTCCCCCACCCCACCCCTTTCCCTATTTCTTACAGGAGACAGACTGTGACCAGTACCCCCTGCTGGATTGAGCTGCACCTGAATGGGCCTTTGCAGTGGCTTGACAAGGTCCTCACCCAGATGGGCTCCCCAAGCATCCGCTGTTCCAGTGTGTCTTAGAGACATCAAGTATGGTAGGGGAGGGCAGGCTTGGGGAAAATGGCCATGCAGGAGGTGGAGAAAATTGGAACTCTACTCAACCCATTGTTGTCAAGGAAGAAGAAATCTTTCTCCCTCAACTGAAGGGGTGCACCCACCTGTTTTCTGAAACACACGAGCAAACCCAGAGGTGGATGTTATGAACAGCTGTGTCTGCCAAACACATTTACCCTTTGGCCCCACTTTGAAGGGCAAGAAATGGCGTCTGCTCTGGTGGCTTAAGTGAGCAGAACAGGTAGTATTACACCACCGGCCCCCTCCCCCCAGACTCTTTTTTTGAGTGACAGCTTTCTGGGATGTCACAGTCCAACCAGAAACACCCCTCTGTCTAGGACTGCAGTGTGGAGTTCACCTTGGAAGGGCGTTCTAGGTAGGAAGAGCCCGCAGGGCCATGCAGACCTCATGCCCAGCTCTCTGACGCTTGTGACAGTGCCTCTTCCAGTGAACATTCCCAGCCCAGCCCCGCCCCGCCCCGCCCCACCACTCCAGCAGACCTTGCCCCTTGTGAGCTGGATAGACTTGGGATGGGGAGGGAGGGAGTTTTGTCTGTCTCCCTCCCCTCTCAGAACATACTGATTGGGAGGTGCGTGTTCAGCAGAACCTGCACACAGGACAGCGGGAAAAATCGATGAGCGCCACCTCTTTAAAAACTCACTTACGTTTGTCCTTTTTCACTTTGAAAAGTTGGAAGGATCTGCTGAGGCCCAGTGCATATGCAATGTATAGTGTCTATTATCACATTAATCTCAAAGAGATTCGAATGACGGTAAGTGTTCTCATGAAGCAGGAGGCCCTTGTCGTGGGATGGCATTTGGTCTCAGGCAGCACCACACTGGGTGCGTCTCCAGTCATCTGTAAGAGCTTGCTCCAGATTCTGATGCATACGGCTATATTGGTTTATGTAGTCAGTTGCATTCATTAAATCAACTTTATCATATGCTCTTTTAAATGTTTGGTTTATATATTTTCTTTAAAAATCCTGGGCTGGCACATTGACTGGGAAACCTGAGTGAGACCCAGCAACTGCTTCTCTCCCTTCTCTCTCCTGAGGTGAAGCTTTTCCAGGTTTTGTTGAAGAGATACCTGCCAGCACTTCTGCAAGCTGAAATTTACAGAAGCAAATTCACCAGAAGGGAAACATCTCAGGCCAACATAGGCAAATGAAAAGGGCTATTAAAATATTTTTACACCTTTGAAAATTGCAGGCTTGGTACAAAGAGGTCTGTCATCTTCCCCCTGGGATATAAGATGATCTAGCTCCCGGTAGAGGATCACCGGTGACAACTATAGCAGTTGTATTGTGTAACAAGTACTGCTCCCAGCAGCAATTAGGGAGAAAACTAGTCTAAATTATTTCAACTGGAAAAAAGAAAAAAGAGTCCTCTTCTTTTCCCAGCCTTTTGCAGAACACAGTAGACAGAACTGCCACCTTCAATTGGTACTTTATTCTTTGCTGCTGTTTTTGTATAAAATGACCTATCCCACGTTTTTGCATGAATTTATAGCAGGAAAAATCAAGGGATTTCCTATGGAAGTCCTGCTTTATTCCAGGTGAAGGGAAGGAAGTGTATATACTTTTGGCAAGTCATACAGCTCAAATGTGATGAGATTTCTGATGTTAGAGGGAGATGGAGAGGCTTCCTGATGCCTCATCTGCAGGGTCCTGTGCCTCTGAAGTTCTAGCCATGAGGTTTCCAGGTAGGACAGCTGCTCCCCAAGCCTCCTGAGGACACAGGAAGAGACGGAAGGAGCACCTTGACAGACTTGTGTGAGTCTTCTCGAAGGAGGGTTGACTCAGAACCCAGAGACAATACAAAACCCCTCACTTCCTCTGAGAGGGCCAAATGCTGTGAGTCTGAAGTATGTGCCTGGTGTGAAATGATCTATGGCCTGTTTCTTACACAGGAAGCCCCCTGAACCTCCTGTACATGTGTTCATGTTCCCAGCCAGCTCTGAGACCCAGGAACCAAATATTCCATTTTGGCTTCTGCTAGAGCAGTCATG
GTCTGCTTGGTTGAATCTCTCAGGCCATCCTGCTTTGGGTTTAGAGAATCCAGTCCCTTTTCTTTCCACTCACGGACCAAAGTTTGCGGAGAGGCAGGGCTGTGTGCCCCCGCCTTCTGCTCCACACTCCCCCCTGCCAGCCGCCAGCTCCTGCGGCAGATGCAGAGGTGCCCACATGTCAGCTAGAGCCAGCGCCTTGCAAGCTACTCTCCCTTTCTCTTCATTTTTCCAGATGTTTGGAATCCATTTTGTTTTGCAGTCATGCTGCACTCAGGCCAAACCCATTTCAATATTGGCCTTGGGCCACCGTTTGTAATGAAATCCAGATGAGCATGACTTATGGAAAGTCAGATTCTCATTAGAGGATTTCATCCTGTAAAATCCTCCTCTTCCACTTACCGTATTTTAGCTGCTGTTCTTCTGTGTCTGCCCCAGGGTGTCAGGGAACACAGCCCCTTGGTTTCTTGGGTGTCTCTGAAATCCAGGAGTGACCAGTGGAGCAATCAAAGTGGTCAGACCTCAAAAGAACTTACAACTATGTTATGGCCTGAAGAGATCAGCCCAGGCCCAAAGGTCTAGCCAGAGAAATGTTTTAAGCAATCTTTTAGCCCTGGCTTAGCTCATTTAGGGAACAGGAGTGAAAGGTTAGAAAATTAATCTTTTTTTAGTGAAGAAGGGAAATATTTAAAGATGGACTGCAGTGGAAAAGAGTAAGGGGATGTCCATTTGCTCTTCTTATACCAGACTGTAGTCTGGAGGGCCACACTCAGGTACCCTCGCTCGTGCAGACACCCCAGGGTCTGTCTGCAGGCCCATTTCTCAACCTCCCTGCTACACAAGCAAAGTAGAGGCCAAGCAAGGAGGGTGGTGCCTTCAAGACAGCAACACTGTTCCTGGTGTGGCATTGCAGCTCTCCCGCTCCAAGTGCTAGGAAGAGGCTCTTTGGTGGCAGAGCCTTTCCCTGGGGACACTATCACCACGCGGGATGTCCTGCCAGCACACCCAGTCCTCTGTGGCCCACCGCGTCACCGCTGCCTGGCAGCACTGCACAGCAGCCTGACGGGCGGGCGCGGCCCCTTCCCAGAACAGCCTTGTCGTCCTCCTGCCTCTTGGGCCAAGGAGAGTAAGGTTTCAGCTCTTCTCTCTGTGAGGTGGCTGAAAGCAGGGCCCAGGGCCCACACCTCTCACCTCCAGCTGGCACCAGCGACTCCAGCCTCAGCAGATAGCCTTTGCTCAGTGGAGGCCTTTGGGAGCCTGCCTGCAAGCTGCGTCATCAACCAGCCTGAATTTAGACAAAGTGCTTTGGGGAAAAGAAACGTGTGGTGTGCCTTGTTTTTTTCCAGTAATTGTTCCATGGCTCGTTCTGCTTGTAAGATTTTCCAAAATAAGGCCGTAGATGAGAATTATATCAGCACATTGGGAACCGAAGGCATGCGGACACTGTTGGCGCTTTGTAAAAAACACCCCTCAATCAGACAGACACACGTCATCGTCGCCTGCTGGGGCTGGGCCCAGATTTCGAGATAGGGGAGCGGCACGTGCCCGTTTGGTACAGATGGGAGCCAGGAAGCCCTTTGCTCAGGATGGAGGTCTCCTCTATTAGGGGGCCTGTTACAGTAACTGGTGGGCCTCTGGGGTACCCTGCAATTGACTTTACATATTTAACTCTTTGCCATTGACTTTACATGTTTAACTCTTTAAAGTCGACTTCCTTCCCCCTCAAGAGAACTTAATTTACTCAAAGTCCTCCCTGGGTAGAGGAGTTTGGCCGGGTAGTTTCAGCAAGTTACTGGTACCGCTTCTAGGACAGCGTCTAACAGCATCTTTGGGAAGATGACTGTCACCAAAGCAGAAAAAGCTTTCTGACTTGTGTAACCCCCTGGAGATTTTTTAAGTCCCCCACCCCACCCCTTTCCCTATTTCTTACAGGAGACAGACTGTGACCAGTACCCCCTGCTGGATTGAGCTGCACCTGAATGGGCCTTTGCAGTGGCTTGACAAGGTCCTCACCCAGATGGGCTCCCCAAGCATCCGCTGTTCCAGTGTGTGTTAGAGACATCAAGTATGGTAGGGGAGGGCAGGCTTGGGGAAAATGGCCATGCAGGAGGTGGAGAAAATTGGAACTCTACTCAACCCATTGTTGTCAAGGAAGAAGAAATCTTTCTCCCTCAACTGAAGGGGTGCACCCACCTGTTTTCTGAAACACACGAGCAAACCCAGAGGTGGATGTTATGAACAGCTGTGTCTGCCAAACACATTTACCCTTTGGCCCCACTTTGAAGGGCAAGAAATGGCGTCTGCTCTGGTGGCTTAAGTGAGCAGAACAGGTAGTATTACACCACCGGCCCCCTCCCCCCAGACTCTTTTTTTGAGTGACAGCTTTCTGGGATGTCACAGTCCAACCAGAAACACCCCTCTGTCTAGGACTGCAGTGTGGAGTTCACCTTGGAAGGGCGTTCTAGGTAGGAAGAGCCCGCAGGGCCATGCAGACCTCATGCCCAGCTCTCTGACGCTTGTGACAGTGCCTCTTCCAGTGAACATTCCCAGCCCAGCCCCGCCCCGCCCCGCCCCACCACTCCAGCAGACCTTGCCCCTTGTGAGCTGGATAGACTTGGGATGGGGAGGGAGGGAGTTTTGTCTGTCTCCCTCCCCTCTCAGAACATACTGATTGGGAGGTGCGTGTTCAGCAGAACCTGCACACAGGACAGCGGGAAAAATCGATGAGCGCCACCTCTTTAAAAACTCACTTACGTTTGTCCTTTTTCACTTTGAAAAGTTGGAAGGATCTGCTGAGGCCCAGTGCATATGCAATGTATAGTGTCTATTATCACATTAATCTCAAAGAGATTCGAATGACGGTAAGTGTTCTCATGAAGCAGGAGGCCCTTGTCGTGGGATGGCATTTGGTCTCAGGCAGCACCACACTGGGTGCGTCTCCAGTCATCTGTAAGAGCTTGCTCCAGATTCTGATGCATACGGCTATATTGGTTTATGTAGTCAGTTGCATTCATTAAATCAACTTTATCATATGCTCTTTTAAATGTTTGGTTTATATATTTTCTTTAAAAATCCTGGGCTGGCACATTGACTGGGAAACCTGAGTGAGACCCAGCAACTGCTTCTCTCCCTTCTCTCTCCTGAGGTGAAGCTTTTCCAGGTTTTGTTGAAGAGATACCTGCCAGCACTTCTGCAAGCTGAAATTTACAGAAGCAAATTCACCAGAAGGGAAACATCTCAGGCCAACATAGGCAAATGAAAAGGGCTATTAAAATATTTTTACACCTTTGAAAATTGCAGGCTTGGTACAAAGAGGTCTGTCATCTTCCCCCTGGGATATAAGATGATCTAGCTCCCGGTAGAGGATCACCGGTGACAACTATAGCAGTTGTATTGTGTAACAAGTACTGCTCCCAGCAGCAATTAGGGAGAAAACTAGTCTAAATTATTTCAACTGGAAAAAAGAAAAAAGAGTCCTCTTCTTTTCCCAGCCTTTTGCAGAACACAGTAGACAGAACTGCCACCTTCAATTGGTACTTTATTCTTTGCTGCTGTTTTTGTATAAAATGACCTATCCCACGTTTTTGCATGAATTTATAGCAGGAAAAATCAAGGGATTTCCTATGGAAGTCCTGCTTTATTCCAGGTGAAGGGAAGGAAGTGTATATACTTTTGGCAAGTCATACAGCTCAAATGTGATGAGATTTCTGATGTTAGAGGGAGATGGAGAGGCTTCCTGATGCCTCATCTGCAGGGTCCTGTGCCTCTGAAGTTCTAGCCATGAGGTTTCCAGGTAGGACAGCTGCTCCCCAAGCCTCCTGAGGACACAGGAAGAGACGGAAGGAGCACCTTGACAGACTTGTGTGAGTCTTCTCGAAGGAGGGTTGACTCAGAACCCAGAGACAATACAAAACCCCTCACTTCCTCTGAGAGGGCCAAATGCTGTGAGTCTGAAGTATGTGCCTGGTGTGAAATGATCTATGGCCTGTTTCTTACACAGGAAGCCCCCTGAACCTCCTGTACATGTGTTCATGTTCCCAGCCAGCTCTGAGACCCAGGAACCAAATATTCCATTTTGGCTTCTGCTAGAGCAGTCATG
Task1_train_21639
A variant was discovered in gene CLN6 (CLN6 transmembrane ER protein), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
TGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGTGTCTGGGGGGTTGTCTGTCTCATGCACCGCAGACACCAGCAGCCCAGCACCACACTAGCCTGGAGACAGAGGCACCTCCCGGGCTGAGGATGGAGGTCCACATGTTAAAAAAGAGAACAGCACCTGCAGGGGCCTCTTGGTGAAGCACTGCACCCACTCTCAGCACACAGCCCCACCCCCACCTCAGACACCTCACCCCAAAATACTACCCTCTCCCCTCTCCACACACCGGCTCCCTTTCTCCCACCTGTGCTTTCACCAGTATACCCGCCTGCCTCTTCTCACCCACACCCCCTTCCTGCTGGGGCTCCAGCTCTCTGTTCCTAGCCCCTCCACCCTTCCCCAACCTTCTGTGGGAAGAGGCTCTGGCAAAGGCCAGGGAAAGATGGCAGGAGGCCTGTCCAGGGACCCTGGACCAGCTGAGCCAGGAGGATTGACATCGCAGGGCCCGAAACACCCTGGAAATGCCCGTGCAGGGTGCGTGTGCTGTGAGCACCAACTCAGGAGTGAGCCGGGTCCAGGGCTGGCCCTCACCTCCCAGCTGCAGCCTTCGGAGCCCTCCTCCCTCTGGCCTCAGTTTCTCCTGGGTAAGATGGGAGGGTGGAACAGATGAAGCCTCCCAGCCTGGGCCCGGGATCTCCTGAGGCTGAGACCACATTTCTGAGGTCTCCCCCGACTGAGGGACGGGGTAGGTAGGAAAAGGTGCCCCTCTGGGAGTTCTGAAGAGGGGGGAGCGCAAACAGCACGCCCCTCCCCAGCCTGATCCAGCTGGCTCCCCGCAGCTTCCTCCACTCCCAAAGAGCAGGCCCGACACGGGTGGGGGTCCCTGGCTGTGCCCCCACCCCCTGCCATCACCATCTGGGGGTTGTTTATCAGGGACGCGTCCTCCTCCCCCACCCTCAGGGCTCAGGCTTGGCGAGGAAGGACCAAAGCCACTCGCTGCCCTCTGCTGGCCACAGCGGGCACTGAGGGCTGGGCGGGGGTGGCGATGCTGGGGGGATGCTGGCTGGAAGCCGGGGCCTGGAGCCTGGGACAGCAGCTGGGTCTCCCGGGCAACCTCGGGGACAACTTCACTGGAGGTTGAGCTCACAGTGCCTTTACAGGGGATGAGACTCAACACATGGAGACCCGCAGCCCAGACAGCCTTGCTCAGTGTGTCCCTGAGCCAGTGACAGGGCTAGCCGGTAGTTGGGGCCCCTGGGATAGACAGATGGGCCCATCACTCACCACATGCAGTGACCCAGGTACTCATCATAATAGTAGAGCAGCTCAAAGGAGTCGATCTGAGGGAGGAACGGGCAGGGCAGAGTCGGGGGATGTCGATGTCAGTCCAGGGAGGTGCTGGGGCCCCAAGCATCCCCTCTGACCACCCTTCTCCCAGTCCCAGGCCTCCCCCACTGCCTTATTCCCTACCCGGGGCCTCGCCTTCTGTTACAGGGGCCCAGGTGGGAGGCAGTCTGTGCACCACTTCCTAAGAACACTTGAGCATCCTAGCTTGGGGCAGGCGACAGTGCCCTCACCTAGCAGAATGCCTTTGGTGAAAGGACAGGTGCGGCGAGGGGTGGGGGCCATTTCTTCAGCCTCCCAGGACAGACTGTGCTCCTAGGGCTTACAGGCAGGGAGCAGGAGGTGGCCTCACCAGCGTCTCCGGCTTGAGATTCTTGATGATGGGGTTCTCACGGACAGACAGGTGGTGCTGGTAGCCACTGAAGAGCAGGCGGTGGTTGACAGAGTCACCCACCAGGTGGATGCTGGCACCCATGATGAAGATGATGATGCTCACGTACGTGATGGAGCGTGGCAGGGTGCGGGGGGACCGCTCGATGAGCTGGGGTTCAGAGTGGGGTTGGCAGCATGACCCCACCTCTGTCACAGTATGTGACACCCTCTGCTTCCCCCCTCACACCTGGGGTGGGATGGACGCTTCCAGCTGGAATGTCACTCCAAAAAGTGGCTGGTCCCTTTAGCAGGCCAGCCCAGCCTCCAGATCCTCCCGTGACCCCTATGAACCCCGGAGGGAATGTGGAGCAGCACCCCCCGCTGACTTTACCCAGGGAGCAAAAAGACCAGAGGGCCCAACTCCTTTCCCAAAGTCACACATGAGCTGTAGGCTGGAGGGGACAGCCCAGCCTTCAGTGCAGGAGTCCAGGCTCAGGCCCAGCCCTCCCACTGTCCCTGGCTGTGTCCCTGGGTGGCTGGCCCAGCCTGCTGAAGGCACCTTCTGATTTCTGAGTGGTCCCAGCAAACATGAAGAAAATGTCAGGGATGGGGGCAGGTGCTTCTGAAATGCCACTGTTTAACTGAAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTGCACCATTATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTCAAACTACTGGCCTCAAGTGATCCTCCTGTATCAGCCTCCCAAAGTATTGAGATTACAGGTGTGAGCCACCATGCCTGGAAAAATTCATTTATATTTCCTATATACTTTACATACACAGCCTGAAGTTAATTTTATATAACATTTTAAATAATTTTGTACATGAAACAAAGTTTGTGTTAAGTACATATGTGTAGAATTTTCTTTTTTGAGACAGAGTGTTGCTCCATCGCCCAGGCTGGAGTGCGGTGGTGGAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCACACCACCGCACCTGGCTAACTTTTTTGTATTTTTAATGGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGGCTCCCAGAGTGCTGGGCTTACAGGCGTAAGCCACCATGCCGGCCCTAAGTTTTTTGTATTTTTTTCTTTTTCTTTTTTTTGAGATGAAGTCTCACTGTCTTGCCCGGGCCGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCTGGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCAGCATGCCCGGCTACTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACTGCGCCTGGCCAATTTTTTCTATTTTTAATGGAGACGGGGGTTTCACCATGTTGGCCAGGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCCAGCCACCGCGCCTGGCCGAGTTTTCTACTTATAGTATCATGCCAGTGCTTAAAAAATTTCAGACTCCTTTGGAGCATTTCAGATTTCAGATTTTTGGATTAGGGATGCTCAACCTATAGTAGTTTTAAAGGCCTTACTTGGCAAAGTGCAAAGCCAGCAGTTCCTGCTAGTGCTCCCAGTGACATCTCAGGGCTCTCCAGGGCAGAGG
TGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGTGTCTGGGGGGTTGTCTGTCTCATGCACCGCAGACACCAGCAGCCCAGCACCACACTAGCCTGGAGACAGAGGCACCTCCCGGGCTGAGGATGGAGGTCCACATGTTAAAAAAGAGAACAGCACCTGCAGGGGCCTCTTGGTGAAGCACTGCACCCACTCTCAGCACACAGCCCCACCCCCACCTCAGACACCTCACCCCAAAATACTACCCTCTCCCCTCTCCACACACCGGCTCCCTTTCTCCCACCTGTGCTTTCACCAGTATACCCGCCTGCCTCTTCTCACCCACACCCCCTTCCTGCTGGGGCTCCAGCTCTCTGTTCCTAGCCCCTCCACCCTTCCCCAACCTTCTGTGGGAAGAGGCTCTGGCAAAGGCCAGGGAAAGATGGCAGGAGGCCTGTCCAGGGACCCTGGACCAGCTGAGCCAGGAGGATTGACATCGCAGGGCCCGAAACACCCTGGAAATGCCCGTGCAGGGTGCGTGTGCTGTGAGCACCAACTCAGGAGTGAGCCGGGTCCAGGGCTGGCCCTCACCTCCCAGCTGCAGCCTTCGGAGCCCTCCTCCCTCTGGCCTCAGTTTCTCCTGGGTAAGATGGGAGGGTGGAACAGATGAAGCCTCCCAGCCTGGGCCCGGGATCTCCTGAGGCTGAGACCACATTTCTGAGGTCTCCCCCGACTGAGGGACGGGGTAGGTAGGAAAAGGTGCCCCTCTGGGAGTTCTGAAGAGGGGGGAGCGCAAACAGCACGCCCCTCCCCAGCCTGATCCAGCTGGCTCCCCGCAGCTTCCTCCACTCCCAAAGAGCAGGCCCGACACGGGTGGGGGTCCCTGGCTGTGCCCCCACCCCCTGCCATCACCATCTGGGGGTTGTTTATCAGGGACGCGTCCTCCTCCCCCACCCTCAGGGCTCAGGCTTGGCGAGGAAGGACCAAAGCCACTCGCTGCCCTCTGCTGGCCACAGCGGGCACTGAGGGCTGGGCGGGGGTGGCGATGCTGGGGGGATGCTGGCTGGAAGCCGGGGCCTGGAGCCTGGGACAGCAGCTGGGTCTCCCGGGCAACCTCGGGGACAACTTCACTGGAGGTTGAGCTCACAGTGCCTTTACAGGGGATGAGACTCAACACATGGAGACCCGCAGCCCAGACAGCCTTGCTCAGTGTGTCCCTGAGCCAGTGACAGGGCTAGCCGGTAGTTGGGGCCCCTGGGATAGACAGATGGGCCCATCACTCACCACATGCAGTGACCCAGGTACTCATCATAATAGTAGAGCAGCTCAAAGGAGTCGATCTGAGGGAGGAACGGGCAGGGCAGAGTCGGGGGATGTCGATGTCAGTCCAGGGAGGTGCTGGGGCCCCAAGCATCCCCTCTGACCACCCTTCTCCCAGTCCCAGGCCTCCCCCACTGCCTTATTCCCTACCCGGGGCCTCGCCTTCTGTTACAGGGGCCCAGGTGGGAGGCAGTCTGTGCACCACTTCCTAAGAACACTTGAGCATCCTAGCTTGGGGCAGGCGACAGTGCCCTCACCTAGCAGAATGCCTTTGGTGAAAGGACAGGTGCGGCGAGGGGTGGGGGCCATTTCTTCAGCCTCCCAGGACAGACTGTGCTCCTAGGGCTTACAGGCAGGGAGCAGGAGGTGGCCTCACCAGCGTCTCCGGCTTGAGATTCTTGATGATGGGGTTCTCACGGACAGACAGGTGGTGCTGGTAGCCACTGAAGAGCAGGCGGTGGTTGACAGAGTCACCCACCAGGTGGATGCTGGCACCCATGATGAAGATGATGCTGCTCACGTACGTGATGGAGCGTGGCAGGGTGCGGGGGGACCGCTCGATGAGCTGGGGTTCAGAGTGGGGTTGGCAGCATGACCCCACCTCTGTCACAGTATGTGACACCCTCTGCTTCCCCCCTCACACCTGGGGTGGGATGGACGCTTCCAGCTGGAATGTCACTCCAAAAAGTGGCTGGTCCCTTTAGCAGGCCAGCCCAGCCTCCAGATCCTCCCGTGACCCCTATGAACCCCGGAGGGAATGTGGAGCAGCACCCCCCGCTGACTTTACCCAGGGAGCAAAAAGACCAGAGGGCCCAACTCCTTTCCCAAAGTCACACATGAGCTGTAGGCTGGAGGGGACAGCCCAGCCTTCAGTGCAGGAGTCCAGGCTCAGGCCCAGCCCTCCCACTGTCCCTGGCTGTGTCCCTGGGTGGCTGGCCCAGCCTGCTGAAGGCACCTTCTGATTTCTGAGTGGTCCCAGCAAACATGAAGAAAATGTCAGGGATGGGGGCAGGTGCTTCTGAAATGCCACTGTTTAACTGAAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTGCACCATTATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTCAAACTACTGGCCTCAAGTGATCCTCCTGTATCAGCCTCCCAAAGTATTGAGATTACAGGTGTGAGCCACCATGCCTGGAAAAATTCATTTATATTTCCTATATACTTTACATACACAGCCTGAAGTTAATTTTATATAACATTTTAAATAATTTTGTACATGAAACAAAGTTTGTGTTAAGTACATATGTGTAGAATTTTCTTTTTTGAGACAGAGTGTTGCTCCATCGCCCAGGCTGGAGTGCGGTGGTGGAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCACACCACCGCACCTGGCTAACTTTTTTGTATTTTTAATGGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGGCTCCCAGAGTGCTGGGCTTACAGGCGTAAGCCACCATGCCGGCCCTAAGTTTTTTGTATTTTTTTCTTTTTCTTTTTTTTGAGATGAAGTCTCACTGTCTTGCCCGGGCCGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCTGGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCAGCATGCCCGGCTACTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACTGCGCCTGGCCAATTTTTTCTATTTTTAATGGAGACGGGGGTTTCACCATGTTGGCCAGGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCCAGCCACCGCGCCTGGCCGAGTTTTCTACTTATAGTATCATGCCAGTGCTTAAAAAATTTCAGACTCCTTTGGAGCATTTCAGATTTCAGATTTTTGGATTAGGGATGCTCAACCTATAGTAGTTTTAAAGGCCTTACTTGGCAAAGTGCAAAGCCAGCAGTTCCTGCTAGTGCTCCCAGTGACATCTCAGGGCTCTCCAGGGCAGAGG
Task1_train_21640
The gene CLN6 (CLN6 transmembrane ER protein), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
AAAATGTCAGGGATGGGGGCAGGTGCTTCTGAAATGCCACTGTTTAACTGAAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTGCACCATTATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTCAAACTACTGGCCTCAAGTGATCCTCCTGTATCAGCCTCCCAAAGTATTGAGATTACAGGTGTGAGCCACCATGCCTGGAAAAATTCATTTATATTTCCTATATACTTTACATACACAGCCTGAAGTTAATTTTATATAACATTTTAAATAATTTTGTACATGAAACAAAGTTTGTGTTAAGTACATATGTGTAGAATTTTCTTTTTTGAGACAGAGTGTTGCTCCATCGCCCAGGCTGGAGTGCGGTGGTGGAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCACACCACCGCACCTGGCTAACTTTTTTGTATTTTTAATGGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGGCTCCCAGAGTGCTGGGCTTACAGGCGTAAGCCACCATGCCGGCCCTAAGTTTTTTGTATTTTTTTCTTTTTCTTTTTTTTGAGATGAAGTCTCACTGTCTTGCCCGGGCCGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCTGGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCAGCATGCCCGGCTACTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACTGCGCCTGGCCAATTTTTTCTATTTTTAATGGAGACGGGGGTTTCACCATGTTGGCCAGGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCCAGCCACCGCGCCTGGCCGAGTTTTCTACTTATAGTATCATGCCAGTGCTTAAAAAATTTCAGACTCCTTTGGAGCATTTCAGATTTCAGATTTTTGGATTAGGGATGCTCAACCTATAGTAGTTTTAAAGGCCTTACTTGGCAAAGTGCAAAGCCAGCAGTTCCTGCTAGTGCTCCCAGTGACATCTCAGGGCTCTCCAGGGCAGAGGATGGAGTTCAGCTGCTGCTGCTGCCTCTCCTGCCACCTGGCTTCTTCCTCTCTTCCCAGTGGGTCCTTGACCTCTCCCTGGACCTCCAGTCACTTCTGCCTCAGCCTCCCCAAATGTTTTACGGTTTCCCAAGCACAGCCTTGTCTTTAGGTCCTTCTACCTGAACACCTCTCTGCTTCCCCCACTGGCACGCCAGGCTGAGGCTCAAATCAAAAGCCCTTTCTTGGGGCATATTTTCCATCCCTCCAGGCCACCGGCAGCTCCGCCTTCCCCGGGCCCCAGGCCCTGGACATGCTGCTCTGTCACAGCCTTCACCCCCCAGCAGCAGGCAGGAGCGTGCTTGAGTCAGGACACAGGGCTTAGCATCACCTTCCTGCCAGGTGTGCAAAGAATGGGGATGACAGGAGAGAGTGGGGGCCCTGGGACAGTACCTTGAGCAAGAGAAAGGGCGTGATGACGTTGTAGGCCATGTGGAAGTAGTCCCCAACACTGGGCTTGTTGAGTGGAAACCACTCGAGAGGGAATACCAGCTGCGGAGCAAATGGAAGAATGGGCTCACCTGGGCACAGCCCCACGCGGCCCTCGGGCCTCAAGGGAGTCTGCCCCTAATGCCGCCCACCCCAACTCCTTTCACCCCCCACCCCATCATGTACACTTAATTCTTCCTGTGATCGCTGGACCTTCTCGGCAGCCTTGGGACAAAGGTTTATCCAGACAGGAAAGCTGAGTCCCAGAGGAGGTAACGGACTTGTCCCCAGACACAGAGCAGATGCAATTCCAGTCAAGGCCTGACCCTGTGCCCCTCACCCAGCAGATACCAAATAAATGACCCTGATGCCAGCTTGGGAGTTGGTAGGCTTCTCAGGGACTCCGTTGTGGCACCAACTTGCTGGGTGACCCTGGGCTAATACTTCCCTTCTCTGGGCCTTGGTTTCCCCATCTATAACACAAGAGAGGTGGCCCAGAGGGCCTACTTGGACCGTTCGGGTTCTGGCGCTCCTGAGTGCCAGATCAGTCTCCTGAGTGCTAGGCCCTGATGTGGAGGGACTGCTTCCAAACCAGGTTCAAAGTACACGTTAGGAGACAAAGGAGAAAACAAGAATGCTCTACAAAGTAGCTGCAACTCTTCCTTCCCAGAGAGAGGAAGGCAGGCCAGGGGCAGTTCCTCCTTCTGCAATGCTCTCTCTTCTGAGCCCTGGCCTTGTCCAGGCCAGTGTGAAAACCCCTATGCGGGGTTAAAGCATTTCACAACCCCCAAACTGTACTTCTAGTATCTGTTGATTGAAAACACACATAAGGCCCACAAGTTTCAAGGAAGGATTTAGATGGTTCTCTCTTTTAACACAGAAATGCCATATTGGATAAACTAAACCCGCAGAAATAAAACTCACAGAATGCAGCAATCTCAGTCTCTCTCTCTCTCTCTTACTCAGTGTGCATGTGTTTATCTGCCTCTTTACCTACATCATATATATACTTGCTAAAATACTCTGTGATAGCAAAACATCAGAAATAGGCTGACTCTTCAATCAAACAGGACCAGTTGAATCCCTGATAGTACTTCTTACCATGGAAGGTTAAGTAGCCATTAACAGAAATGACACCTTATATGTACTGACATGGAGAGAGAGCTATATTTTTTTTTCTTTTTTCTTTTTTATTGAGATGAGGTCTCCTTATGTTGACCAGGCTGGTCACAAACTCCTGGGCTCAAGCGATCCTCCCACCTTGACCTCCCAAAGTGCTGGCATTACAGGTGCCAGGCACCAAGCACCATTAATTTTTAAATTATTTGTAAAAACAGGGTCTTGCTATGTTGCCAGGACTGGCCTCAGGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACATGCCACCATGCCCACCATATGATATATTCTAAAGGAAAACAAGCAGGTTGCAAAATAAAGTATAAAGCAAAATCCCATTATGGTTAGAAGGGAAAAGGATGTATATATGTGTTTGTACAAGCAGAGAAGAGTGAAAGGGGTGTTCCCGAAACTGTCAGCAGTGGGACAGGAAAGGGGTAGGGAGAGTCTAACACTTCTTTATGTTACAACTATGTTACATCTATGACATGTTACTTTTATAACTTGTAAATGTTTTTGTTTTTAACAAATTTGCAACTATTATGCATACATTTGAAAATCTCTAGCGTATACAAGAGCTTTTCAAATGTCTACGTTCCACCAAGTCCTACTTAGGGTTACAGTGGTCACAGCAGCTCTAAGCAGGATGGGGGAAGTGATTTGCCCAATAGGAGACCCTGTTATGCCAGTAGAAGCTGGGTCCTAGTGAGTGAAGGGAGCCACGAGCCCACTCCTGGCCTCATCTCTCTCTCTAGCACCAGTTTGATGGGCAGCTTCTTTGGCCCCCAGTATGTGGTTCCTTCATGCTAGAAGAAGGTTCAGAGCAGCCAGTCCAGCCAGTCTTCTTGGAGAGAGAAATGAAGCCCAGGACAGTGACTTGCCCTAGGTCACCCACAAACCCAACCAGATGC
AAAATGTCAGGGATGGGGGCAGGTGCTTCTGAAATGCCACTGTTTAACTGAAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTGCACCATTATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTCAAACTACTGGCCTCAAGTGATCCTCCTGTATCAGCCTCCCAAAGTATTGAGATTACAGGTGTGAGCCACCATGCCTGGAAAAATTCATTTATATTTCCTATATACTTTACATACACAGCCTGAAGTTAATTTTATATAACATTTTAAATAATTTTGTACATGAAACAAAGTTTGTGTTAAGTACATATGTGTAGAATTTTCTTTTTTGAGACAGAGTGTTGCTCCATCGCCCAGGCTGGAGTGCGGTGGTGGAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCACACCACCGCACCTGGCTAACTTTTTTGTATTTTTAATGGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGGCTCCCAGAGTGCTGGGCTTACAGGCGTAAGCCACCATGCCGGCCCTAAGTTTTTTGTATTTTTTTCTTTTTCTTTTTTTTGAGATGAAGTCTCACTGTCTTGCCCGGGCCGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCTGGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCAGCATGCCCGGCTACTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACTGCGCCTGGCCAATTTTTTCTATTTTTAATGGAGACGGGGGTTTCACCATGTTGGCCAGGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCCAGCCACCGCGCCTGGCCGAGTTTTCTACTTATAGTATCATGCCAGTGCTTAAAAAATTTCAGACTCCTTTGGAGCATTTCAGATTTCAGATTTTTGGATTAGGGATGCTCAACCTATAGTAGTTTTAAAGGCCTTACTTGGCAAAGTGCAAAGCCAGCAGTTCCTGCTAGTGCTCCCAGTGACATCTCAGGGCTCTCCAGGGCAGAGGATGGAGTTCAGCTGCTGCTGCTGCCTCTCCTGCCACCTGGCTTCTTCCTCTCTTCCCAGTGGGTCCTTGACCTCTCCCTGGACCTCCAGTCACTTCTGCCTCAGCCTCCCCAAATGTTTTACGGTTTCCCAAGCACAGCCTTGTCTTTAGGTCCTTCTACCTGAACACCTCTCTGCTTCCCCCACTGGCACGCCAGGCTGAGGCTCAAATCAAAAGCCCTTTCTTGGGGCATATTTTCCATCCCTCCAGGCCACCGGCAGCTCCGCCTTCCCCGGGCCCCAGGCCCTGGACATGCTGCTCTGTCACAGCCTTCACCCCCCAGCAGCAGGCAGGAGCGTGCTTGAGTCAGGACACAGGGCTTAGCATCACCTTCCTGCCAGGTGTGCAAAGAATGGGGATGACAGGAGAGAGTGGGGGCCCTGGGACAGTACCTTGAGCAAGAGAAAGGGCGTGATGACGTTGTAGGCCATGTGGAAGTTGTCCCCAACACTGGGCTTGTTGAGTGGAAACCACTCGAGAGGGAATACCAGCTGCGGAGCAAATGGAAGAATGGGCTCACCTGGGCACAGCCCCACGCGGCCCTCGGGCCTCAAGGGAGTCTGCCCCTAATGCCGCCCACCCCAACTCCTTTCACCCCCCACCCCATCATGTACACTTAATTCTTCCTGTGATCGCTGGACCTTCTCGGCAGCCTTGGGACAAAGGTTTATCCAGACAGGAAAGCTGAGTCCCAGAGGAGGTAACGGACTTGTCCCCAGACACAGAGCAGATGCAATTCCAGTCAAGGCCTGACCCTGTGCCCCTCACCCAGCAGATACCAAATAAATGACCCTGATGCCAGCTTGGGAGTTGGTAGGCTTCTCAGGGACTCCGTTGTGGCACCAACTTGCTGGGTGACCCTGGGCTAATACTTCCCTTCTCTGGGCCTTGGTTTCCCCATCTATAACACAAGAGAGGTGGCCCAGAGGGCCTACTTGGACCGTTCGGGTTCTGGCGCTCCTGAGTGCCAGATCAGTCTCCTGAGTGCTAGGCCCTGATGTGGAGGGACTGCTTCCAAACCAGGTTCAAAGTACACGTTAGGAGACAAAGGAGAAAACAAGAATGCTCTACAAAGTAGCTGCAACTCTTCCTTCCCAGAGAGAGGAAGGCAGGCCAGGGGCAGTTCCTCCTTCTGCAATGCTCTCTCTTCTGAGCCCTGGCCTTGTCCAGGCCAGTGTGAAAACCCCTATGCGGGGTTAAAGCATTTCACAACCCCCAAACTGTACTTCTAGTATCTGTTGATTGAAAACACACATAAGGCCCACAAGTTTCAAGGAAGGATTTAGATGGTTCTCTCTTTTAACACAGAAATGCCATATTGGATAAACTAAACCCGCAGAAATAAAACTCACAGAATGCAGCAATCTCAGTCTCTCTCTCTCTCTCTTACTCAGTGTGCATGTGTTTATCTGCCTCTTTACCTACATCATATATATACTTGCTAAAATACTCTGTGATAGCAAAACATCAGAAATAGGCTGACTCTTCAATCAAACAGGACCAGTTGAATCCCTGATAGTACTTCTTACCATGGAAGGTTAAGTAGCCATTAACAGAAATGACACCTTATATGTACTGACATGGAGAGAGAGCTATATTTTTTTTTCTTTTTTCTTTTTTATTGAGATGAGGTCTCCTTATGTTGACCAGGCTGGTCACAAACTCCTGGGCTCAAGCGATCCTCCCACCTTGACCTCCCAAAGTGCTGGCATTACAGGTGCCAGGCACCAAGCACCATTAATTTTTAAATTATTTGTAAAAACAGGGTCTTGCTATGTTGCCAGGACTGGCCTCAGGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACATGCCACCATGCCCACCATATGATATATTCTAAAGGAAAACAAGCAGGTTGCAAAATAAAGTATAAAGCAAAATCCCATTATGGTTAGAAGGGAAAAGGATGTATATATGTGTTTGTACAAGCAGAGAAGAGTGAAAGGGGTGTTCCCGAAACTGTCAGCAGTGGGACAGGAAAGGGGTAGGGAGAGTCTAACACTTCTTTATGTTACAACTATGTTACATCTATGACATGTTACTTTTATAACTTGTAAATGTTTTTGTTTTTAACAAATTTGCAACTATTATGCATACATTTGAAAATCTCTAGCGTATACAAGAGCTTTTCAAATGTCTACGTTCCACCAAGTCCTACTTAGGGTTACAGTGGTCACAGCAGCTCTAAGCAGGATGGGGGAAGTGATTTGCCCAATAGGAGACCCTGTTATGCCAGTAGAAGCTGGGTCCTAGTGAGTGAAGGGAGCCACGAGCCCACTCCTGGCCTCATCTCTCTCTCTAGCACCAGTTTGATGGGCAGCTTCTTTGGCCCCCAGTATGTGGTTCCTTCATGCTAGAAGAAGGTTCAGAGCAGCCAGTCCAGCCAGTCTTCTTGGAGAGAGAAATGAAGCCCAGGACAGTGACTTGCCCTAGGTCACCCACAAACCCAACCAGATGC
Task1_train_21641
This variant lies on Chromosome 15 and affects the gene CLN6 (CLN6 transmembrane ER protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
AAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTGCACCATTATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTCAAACTACTGGCCTCAAGTGATCCTCCTGTATCAGCCTCCCAAAGTATTGAGATTACAGGTGTGAGCCACCATGCCTGGAAAAATTCATTTATATTTCCTATATACTTTACATACACAGCCTGAAGTTAATTTTATATAACATTTTAAATAATTTTGTACATGAAACAAAGTTTGTGTTAAGTACATATGTGTAGAATTTTCTTTTTTGAGACAGAGTGTTGCTCCATCGCCCAGGCTGGAGTGCGGTGGTGGAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCACACCACCGCACCTGGCTAACTTTTTTGTATTTTTAATGGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGGCTCCCAGAGTGCTGGGCTTACAGGCGTAAGCCACCATGCCGGCCCTAAGTTTTTTGTATTTTTTTCTTTTTCTTTTTTTTGAGATGAAGTCTCACTGTCTTGCCCGGGCCGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCTGGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCAGCATGCCCGGCTACTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACTGCGCCTGGCCAATTTTTTCTATTTTTAATGGAGACGGGGGTTTCACCATGTTGGCCAGGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCCAGCCACCGCGCCTGGCCGAGTTTTCTACTTATAGTATCATGCCAGTGCTTAAAAAATTTCAGACTCCTTTGGAGCATTTCAGATTTCAGATTTTTGGATTAGGGATGCTCAACCTATAGTAGTTTTAAAGGCCTTACTTGGCAAAGTGCAAAGCCAGCAGTTCCTGCTAGTGCTCCCAGTGACATCTCAGGGCTCTCCAGGGCAGAGGATGGAGTTCAGCTGCTGCTGCTGCCTCTCCTGCCACCTGGCTTCTTCCTCTCTTCCCAGTGGGTCCTTGACCTCTCCCTGGACCTCCAGTCACTTCTGCCTCAGCCTCCCCAAATGTTTTACGGTTTCCCAAGCACAGCCTTGTCTTTAGGTCCTTCTACCTGAACACCTCTCTGCTTCCCCCACTGGCACGCCAGGCTGAGGCTCAAATCAAAAGCCCTTTCTTGGGGCATATTTTCCATCCCTCCAGGCCACCGGCAGCTCCGCCTTCCCCGGGCCCCAGGCCCTGGACATGCTGCTCTGTCACAGCCTTCACCCCCCAGCAGCAGGCAGGAGCGTGCTTGAGTCAGGACACAGGGCTTAGCATCACCTTCCTGCCAGGTGTGCAAAGAATGGGGATGACAGGAGAGAGTGGGGGCCCTGGGACAGTACCTTGAGCAAGAGAAAGGGCGTGATGACGTTGTAGGCCATGTGGAAGTAGTCCCCAACACTGGGCTTGTTGAGTGGAAACCACTCGAGAGGGAATACCAGCTGCGGAGCAAATGGAAGAATGGGCTCACCTGGGCACAGCCCCACGCGGCCCTCGGGCCTCAAGGGAGTCTGCCCCTAATGCCGCCCACCCCAACTCCTTTCACCCCCCACCCCATCATGTACACTTAATTCTTCCTGTGATCGCTGGACCTTCTCGGCAGCCTTGGGACAAAGGTTTATCCAGACAGGAAAGCTGAGTCCCAGAGGAGGTAACGGACTTGTCCCCAGACACAGAGCAGATGCAATTCCAGTCAAGGCCTGACCCTGTGCCCCTCACCCAGCAGATACCAAATAAATGACCCTGATGCCAGCTTGGGAGTTGGTAGGCTTCTCAGGGACTCCGTTGTGGCACCAACTTGCTGGGTGACCCTGGGCTAATACTTCCCTTCTCTGGGCCTTGGTTTCCCCATCTATAACACAAGAGAGGTGGCCCAGAGGGCCTACTTGGACCGTTCGGGTTCTGGCGCTCCTGAGTGCCAGATCAGTCTCCTGAGTGCTAGGCCCTGATGTGGAGGGACTGCTTCCAAACCAGGTTCAAAGTACACGTTAGGAGACAAAGGAGAAAACAAGAATGCTCTACAAAGTAGCTGCAACTCTTCCTTCCCAGAGAGAGGAAGGCAGGCCAGGGGCAGTTCCTCCTTCTGCAATGCTCTCTCTTCTGAGCCCTGGCCTTGTCCAGGCCAGTGTGAAAACCCCTATGCGGGGTTAAAGCATTTCACAACCCCCAAACTGTACTTCTAGTATCTGTTGATTGAAAACACACATAAGGCCCACAAGTTTCAAGGAAGGATTTAGATGGTTCTCTCTTTTAACACAGAAATGCCATATTGGATAAACTAAACCCGCAGAAATAAAACTCACAGAATGCAGCAATCTCAGTCTCTCTCTCTCTCTCTTACTCAGTGTGCATGTGTTTATCTGCCTCTTTACCTACATCATATATATACTTGCTAAAATACTCTGTGATAGCAAAACATCAGAAATAGGCTGACTCTTCAATCAAACAGGACCAGTTGAATCCCTGATAGTACTTCTTACCATGGAAGGTTAAGTAGCCATTAACAGAAATGACACCTTATATGTACTGACATGGAGAGAGAGCTATATTTTTTTTTCTTTTTTCTTTTTTATTGAGATGAGGTCTCCTTATGTTGACCAGGCTGGTCACAAACTCCTGGGCTCAAGCGATCCTCCCACCTTGACCTCCCAAAGTGCTGGCATTACAGGTGCCAGGCACCAAGCACCATTAATTTTTAAATTATTTGTAAAAACAGGGTCTTGCTATGTTGCCAGGACTGGCCTCAGGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACATGCCACCATGCCCACCATATGATATATTCTAAAGGAAAACAAGCAGGTTGCAAAATAAAGTATAAAGCAAAATCCCATTATGGTTAGAAGGGAAAAGGATGTATATATGTGTTTGTACAAGCAGAGAAGAGTGAAAGGGGTGTTCCCGAAACTGTCAGCAGTGGGACAGGAAAGGGGTAGGGAGAGTCTAACACTTCTTTATGTTACAACTATGTTACATCTATGACATGTTACTTTTATAACTTGTAAATGTTTTTGTTTTTAACAAATTTGCAACTATTATGCATACATTTGAAAATCTCTAGCGTATACAAGAGCTTTTCAAATGTCTACGTTCCACCAAGTCCTACTTAGGGTTACAGTGGTCACAGCAGCTCTAAGCAGGATGGGGGAAGTGATTTGCCCAATAGGAGACCCTGTTATGCCAGTAGAAGCTGGGTCCTAGTGAGTGAAGGGAGCCACGAGCCCACTCCTGGCCTCATCTCTCTCTCTAGCACCAGTTTGATGGGCAGCTTCTTTGGCCCCCAGTATGTGGTTCCTTCATGCTAGAAGAAGGTTCAGAGCAGCCAGTCCAGCCAGTCTTCTTGGAGAGAGAAATGAAGCCCAGGACAGTGACTTGCCCTAGGTCACCCACAAACCCAACCAGATGCCCCAACTCTTGGCTCAATTCCTCTTATTTTTCCACATTTAAAAGGCAACC
AAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTGCACCATTATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTCAAACTACTGGCCTCAAGTGATCCTCCTGTATCAGCCTCCCAAAGTATTGAGATTACAGGTGTGAGCCACCATGCCTGGAAAAATTCATTTATATTTCCTATATACTTTACATACACAGCCTGAAGTTAATTTTATATAACATTTTAAATAATTTTGTACATGAAACAAAGTTTGTGTTAAGTACATATGTGTAGAATTTTCTTTTTTGAGACAGAGTGTTGCTCCATCGCCCAGGCTGGAGTGCGGTGGTGGAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCACACCACCGCACCTGGCTAACTTTTTTGTATTTTTAATGGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGGCTCCCAGAGTGCTGGGCTTACAGGCGTAAGCCACCATGCCGGCCCTAAGTTTTTTGTATTTTTTTCTTTTTCTTTTTTTTGAGATGAAGTCTCACTGTCTTGCCCGGGCCGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCTGGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCAGCATGCCCGGCTACTTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACTGCGCCTGGCCAATTTTTTCTATTTTTAATGGAGACGGGGGTTTCACCATGTTGGCCAGGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCCAGCCACCGCGCCTGGCCGAGTTTTCTACTTATAGTATCATGCCAGTGCTTAAAAAATTTCAGACTCCTTTGGAGCATTTCAGATTTCAGATTTTTGGATTAGGGATGCTCAACCTATAGTAGTTTTAAAGGCCTTACTTGGCAAAGTGCAAAGCCAGCAGTTCCTGCTAGTGCTCCCAGTGACATCTCAGGGCTCTCCAGGGCAGAGGATGGAGTTCAGCTGCTGCTGCTGCCTCTCCTGCCACCTGGCTTCTTCCTCTCTTCCCAGTGGGTCCTTGACCTCTCCCTGGACCTCCAGTCACTTCTGCCTCAGCCTCCCCAAATGTTTTACGGTTTCCCAAGCACAGCCTTGTCTTTAGGTCCTTCTACCTGAACACCTCTCTGCTTCCCCCACTGGCACGCCAGGCTGAGGCTCAAATCAAAAGCCCTTTCTTGGGGCATATTTTCCATCCCTCCAGGCCACCGGCAGCTCCGCCTTCCCCGGGCCCCAGGCCCTGGACATGCTGCTCTGTCACAGCCTTCACCCCCCAGCAGCAGGCAGGAGCGTGCTTGAGTCAGGACACAGGGCTTAGCATCACCTTCCTGCCAGGTGTGCAAAGAATGGGGATGACAGGAGAGAGTGGGGGCCCTGGGACAGTACCTTGAGCAAGAGAAAGGGCGTGATGACGTTGTAGGCCATGTGGAAGTAGTCCCCAACACTGGGCTTGTTGAGTGGAAACCACTCGAGAGGGAATACCGGCTGCGGAGCAAATGGAAGAATGGGCTCACCTGGGCACAGCCCCACGCGGCCCTCGGGCCTCAAGGGAGTCTGCCCCTAATGCCGCCCACCCCAACTCCTTTCACCCCCCACCCCATCATGTACACTTAATTCTTCCTGTGATCGCTGGACCTTCTCGGCAGCCTTGGGACAAAGGTTTATCCAGACAGGAAAGCTGAGTCCCAGAGGAGGTAACGGACTTGTCCCCAGACACAGAGCAGATGCAATTCCAGTCAAGGCCTGACCCTGTGCCCCTCACCCAGCAGATACCAAATAAATGACCCTGATGCCAGCTTGGGAGTTGGTAGGCTTCTCAGGGACTCCGTTGTGGCACCAACTTGCTGGGTGACCCTGGGCTAATACTTCCCTTCTCTGGGCCTTGGTTTCCCCATCTATAACACAAGAGAGGTGGCCCAGAGGGCCTACTTGGACCGTTCGGGTTCTGGCGCTCCTGAGTGCCAGATCAGTCTCCTGAGTGCTAGGCCCTGATGTGGAGGGACTGCTTCCAAACCAGGTTCAAAGTACACGTTAGGAGACAAAGGAGAAAACAAGAATGCTCTACAAAGTAGCTGCAACTCTTCCTTCCCAGAGAGAGGAAGGCAGGCCAGGGGCAGTTCCTCCTTCTGCAATGCTCTCTCTTCTGAGCCCTGGCCTTGTCCAGGCCAGTGTGAAAACCCCTATGCGGGGTTAAAGCATTTCACAACCCCCAAACTGTACTTCTAGTATCTGTTGATTGAAAACACACATAAGGCCCACAAGTTTCAAGGAAGGATTTAGATGGTTCTCTCTTTTAACACAGAAATGCCATATTGGATAAACTAAACCCGCAGAAATAAAACTCACAGAATGCAGCAATCTCAGTCTCTCTCTCTCTCTCTTACTCAGTGTGCATGTGTTTATCTGCCTCTTTACCTACATCATATATATACTTGCTAAAATACTCTGTGATAGCAAAACATCAGAAATAGGCTGACTCTTCAATCAAACAGGACCAGTTGAATCCCTGATAGTACTTCTTACCATGGAAGGTTAAGTAGCCATTAACAGAAATGACACCTTATATGTACTGACATGGAGAGAGAGCTATATTTTTTTTTCTTTTTTCTTTTTTATTGAGATGAGGTCTCCTTATGTTGACCAGGCTGGTCACAAACTCCTGGGCTCAAGCGATCCTCCCACCTTGACCTCCCAAAGTGCTGGCATTACAGGTGCCAGGCACCAAGCACCATTAATTTTTAAATTATTTGTAAAAACAGGGTCTTGCTATGTTGCCAGGACTGGCCTCAGGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACATGCCACCATGCCCACCATATGATATATTCTAAAGGAAAACAAGCAGGTTGCAAAATAAAGTATAAAGCAAAATCCCATTATGGTTAGAAGGGAAAAGGATGTATATATGTGTTTGTACAAGCAGAGAAGAGTGAAAGGGGTGTTCCCGAAACTGTCAGCAGTGGGACAGGAAAGGGGTAGGGAGAGTCTAACACTTCTTTATGTTACAACTATGTTACATCTATGACATGTTACTTTTATAACTTGTAAATGTTTTTGTTTTTAACAAATTTGCAACTATTATGCATACATTTGAAAATCTCTAGCGTATACAAGAGCTTTTCAAATGTCTACGTTCCACCAAGTCCTACTTAGGGTTACAGTGGTCACAGCAGCTCTAAGCAGGATGGGGGAAGTGATTTGCCCAATAGGAGACCCTGTTATGCCAGTAGAAGCTGGGTCCTAGTGAGTGAAGGGAGCCACGAGCCCACTCCTGGCCTCATCTCTCTCTCTAGCACCAGTTTGATGGGCAGCTTCTTTGGCCCCCAGTATGTGGTTCCTTCATGCTAGAAGAAGGTTCAGAGCAGCCAGTCCAGCCAGTCTTCTTGGAGAGAGAAATGAAGCCCAGGACAGTGACTTGCCCTAGGTCACCCACAAACCCAACCAGATGCCCCAACTCTTGGCTCAATTCCTCTTATTTTTCCACATTTAAAAGGCAACC
Task1_train_21642
This variant affects gene CLN6 (CLN6 transmembrane ER protein) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
Pathogenic; Ceroid lipofuscinosis, neuronal, 6A
ATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCT
ATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACTTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCT
Task1_train_21643
An alteration has been detected in CLN6 (CLN6 transmembrane ER protein) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Neuronal ceroid lipofuscinosis
ATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCT
ATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACTTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCT
Task1_train_21644
The variant affects gene CLN6 (CLN6 transmembrane ER protein), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
GAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGA
GAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCGTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGA
Task1_train_21645
A variant was discovered in gene CLN6 (CLN6 transmembrane ER protein), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGATTTAATAACACTCA
GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCTATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGATTTAATAACACTCA
Task1_train_21646
This gene mutation involves CLN6 (CLN6 transmembrane ER protein) on Chromosome 15. Is it associated with any clinical condition, or is it benign?
Pathogenic; Ceroid lipofuscinosis, neuronal, 6A
GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGATTTAATAACACTCA
GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCTATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGATTTAATAACACTCA
Task1_train_21647
Gene CLN6 (CLN6 transmembrane ER protein), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Neuronal ceroid lipofuscinosis
GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCCATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGATTTAATAACACTCA
GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTGGGGCAGACAGCCCGGGGACTCAGCCAGTCAGGCTCCTCAGCCCATCTAAGCCTATTTCCTCATCAGTAAAATAATACTTAACTCACAGGCCGAGGGAGACAGGTGAGCTACAGTATGCGGTCTATGGCCAGTACATTGTTTCTAAGTGAAAACGGACACAGTCCGCAGCTGCTCAGCCCGCATGTCCGCAGCAGCAGAAACGAGCCATCCCTCACCTCAGCCCAAGCGCTCAGACTTCTCCCTTCATCCAGGTCGTACCAAAAACTTCCTAACAAGGACTTTGCGCATGCTAGTGCTCAGAAACTTCTCACGACTCCCCAGTGCCTATGGGATAAAGACTGTGTCCTTAACCTGTCACCTAGGACAGGAACTAGGGTGAGACAAGCAAGGCCTCCAAGGCCCAACATTTGAGGCGGCACTCACGGTCACGGCAGTGCGCCTACCCCTAAGTTTTGCAATCTAGGTCCTCAACTCGAGTCCTAGACTTGCTGCAATTAAAGGCCCTTCACAATCAGTCTGCATCCTCCTGTCACTTTCTTTTACAGCCGGAAAGCTCCAGCACCACTAAACTCCTTGCCCTTCCCCACTGTTTCCCTGGATGGAACAGCCTGTCTTCCCTGGGTCCCCTACCAAGTCCTCTGAGACTCAGCTCAAGTGCCACTTCCTCCATGAAGCCCTCCAAGATGACCGCTCACTCCCACTTGGGCTCTGTCTCTCCTGATCCCTACAGGACCGTAAGCCTCTCCCACCTTCACCCTGCCTACCCCCTTACTGCCTGGCACAGCGCTGGGCATACCACAGGCGCTTAAAGAATGCCTGCTGAATGCAGTGAATGTTTCTGGTCAGTAAAACGGGACGAAGGTAGAATGGAGCTCTGCTCGCCCAACGAGATAAACCAAAAACTGAGAAGGGCTCCTCATTCATTCTCTGGACGGCAGCTTCCGCCCTTCCCCGCTGTCTCTTCCATTACATTCGCACATTCTTGGGTGCCCCAGGTCAAGCAGACAGCCTCCTGATAAATGACAGAATCAAGTCCTACTCAGGGCTGGAGGGACCCCGAGAACGCGGAGGTGGCGCCCGGAACTTGCGGATAAGTTGGGGGTCCGAGTGACGAGGTGTGTGTACCCACCGCCCTGGGGAGCTCTCCCAGCGCAGCGGCTGTCCCGGCGCCAGCCCGGGTCGCTGGAACGCGGGAAGGGAGGAAAACCCCAAACTTCGGGCGGGCGCTCCTCCCACCCGAGCAACGGCGAAGCGGGGAGGCCGAGCCCCGCTGGGCCCCAGGCTCCCCAGACAGAGAAGGAAACGCGGGGGCACCGCCGCCACGGTAGCGCGCCTCCAAGCCCCCCGCGCTCCGCTCCGCCCCGGCCAGCGCCGCACACGAGGTTCCCGCCCGGCAGCCCTAGGAGCGTCACGTGGCGGGTCCCGAGGCCCCAGCGCACAGGCGCCTAGCCCGCCCTCTCACCCCGGCGCGCGCCCACCTGGCCTGCAGGAAGGAGGCGCCCAGCTGCGCGCCTGGGCCGCCCGTCGCTCCCAGGTGCTGCCGCCTCCGCGTCGCCTCTATGGCTGCCCCGCAGGCCCCTCGGCCCTGCCTTTCCGAGGAAGAGACCGGTTCAGCTCGGCTGCCCCGGCGGAGGCCGCCGCAAATTCCCAGCGCGGGGCGGTTCGGGGCGGGCCGGCGAGAGCGCGCGGCCCTCGGGAGGAACAGGCGGGGCTGCGGACCCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGGGAGGCGGGGCGGAGGGAGACGGGGCGGGCTCCGCTAGGGGAGGGCCGGGCGCTGCGAGTGTGGCGTCCTCGCGGGGCGGGGGCTGCTGGCCTGTCCGGGCTGCGCGCGTGACCACCAGCGGGCTGGGATGTGTTAGGGTCCCTTGCCTGCCTGGGTACGGGAATCTCTGTCTAGGGTGACTGAGGCCTGGGTGTTGGGCTGGGGCGGGGTAGCGACCTGGAGATAGACTAAGCTGATTTAAATGCTCCCCGGGGCAGAGGGTTCTGTGGGATTTCCCTTGTTCTTACGGGTGGAGGAGAGGAGGCAGGACTGGAGACCTGCACGTGTAGCACCCGCGTGGTGCAGCACGTGGGTTGCAGATGTTCTAGTGAGGGGCTGGCGGTGACAGTGGGAAGGAGCGAGTTGGTGACATCTAGAGTCGTGTGAGAGGTATGGTGACTGGGACTCTGGATGTGGGGGGTGAGGGGAGAAGAGTTCAGGCAGTGGCCGGATTCTGCCCCTGGGTGGATAGTGGAGGCACCCCCCGGGAAGTGGGCTAGAGCAGATTTCGTGTAAATAAAGATTCATCTTTGAACGCATTAAGCTTGAGGTGGGTCAGGAAGGCTGTTGGACCGGTGGTCTGAAGCTGAGGCGAGACCTGGGAACCCAGTGGACAGGCTCGTGAGTCACCGGAGCATACAAGACAGACAGAACCTAAGGGGACAGCATCCTCAAGTGAAAAACAGAACCAAAGGTCAAACCTGAGAACAGCCTGCAGGGCAGATTGCCAGGACTTCATTAGTGGTACCACTTTGAACTAGCTGTGATGCGGGCAAATGGCTCAACCCCTCACAGCTTCAGTTTACTCATCTGTAACAAGAAGATGCCTATTGCATCTACTACATTGGAGTTGTGATGACTATATGAAACTCTTAGCAGAGAGCCCAGCACTGGTGGACTAAGTTATTTACAATAGCCCGTCTCGAGACCTGAGGTTTCCCTCCACAGAAAGGTTACCTTCCACACCACTGTCAATGTCACAAACTCTCTCCTCCCCACGGTCACTGTCAGCAGCCCAGGCCGCTAACTAGAACAACTGCAACCAACTCCCATTCTCCCCACCACCCCCGTGCTACACCAGGCGCACACGACATGTGCAGGTCTCCAGTCCTGTCTCCTCTCACCCAGCCCTCAAGCCGCTGCAGAAGGGATGTGCCTCTTGGAAGGGATGTGCCTCAGATGCAAATGCAATGTGCCATTCCCCTGCCCAGTATCCTTGGTCTGCTTCCCAGACCATGAGGGGTCTGAGCTATGCCTATTTCCATTCTATTTTCTTTCCTGTCTTTCTTCTTGGGAGATGTTTATTGGATTTATTTCTTTCCCCTTTGGTCAGAACCTGCATGTCCTTTCTTGGCTGTGGGAGGCTAGGACTGCCTGCCTGGGAGTCATTTTCCATCAGCCCCATCCTGGGCTCTAGCAGCCCACAGGCCACACCTCAATCCCCCCCCTCCGCCCCTGGTCCCCTGAAGAACACATTTGCTTTAAAGCTTTCCTTGTTTCATTTGATCCACACACACCAGGTCGTAAGGAGAACAGGTGATTGTCTCTGTTTTGTAGCAGAGAAAAACCTAGGCCCTGAGCTGAAGTACTGTGCCCAAGGGTCAGCCAAGGACAGCACTCAGACGGGGCCCCAGATTTAATTCTGGTGAATCTGATCTACACATCGATCTCGGTATACACCAGAGAAGAAGGATTGAGGCTTCCCGCTCTGACCCCAATTTCTTATCCTCTGCAGGCTTTGCAAGCCTGCTGGGCTCCAGAGGGAGGGGCATGCAGTGCCCATGATGTCATCATCGATTTAATAACACTCA
Task1_train_21648
Consider a variant on Chromosome 15 in gene KIF23 (kinesin family member 23). Determine its clinical classification and disease relevance.
Pathogenic; Congenital dyserythropoietic anemia, type III
AAATCTTAACTGAAAGCACTCAGAAGTATTTCACATTTCTTTAATCATTTTATTCATATGGTTCTTATTATACCTATGTTCTTAGGATTGTTTTCTGTTTTGTTTAGAAGCCTAGAAAATGTGTAGGGCTTTCATTGATCTTATTGAAGATTTTAACAGAGTTGTGGACATAATAGATTACCTCTCAATAGCAGGGATAAATATTGGTTTTTGATCAAGAATATGAAATGAGTTGTTTGTCCTGAACCACCCCCAAGCAGGAAAGACTTGCAGCATTACCAGAATTTTTTCTTTTATCCTTTATTGAAAGGGAAACTCCCAGATAGAATGTGTAACATACAAGTTGGTGTTAAAGATGTTTGTTGGTTTTGTGTTTAAATGCAAAGATCATGTTTAAATTACTTGAATAAAATATTTAGCTTTGGAAAGGTTTGCTATGATACTGTCATCAACTAATGTAGCCAAACCTGCTGCACTTCTAATAATACCCTTAAATTAATTCTGGGTTATGCTTGTTTCTCAGTTACTCTTTCAACCTGATCAGAACGCACCACCAATTCGTCTCCGACACAGACGATCACGCTCTGCAGGAGACAGATGGGTAGATCATAAGCCCGCCTCTAACATGCAAACTGAAACAGTCATGCAGCCACATGTCCCTCATGCCATCACAGTATCTGTTGCAAATGAAAAGGCACTAGCTAAGTGTGAGAAGTACATGCTGACCCACCAGGAACTAGCCTCCGATGGGGAGATTGAAACTAAACTAATTAAGGTAAAAAACTAATTTTCACAGGAGAAAAAAATATATTTAAAAATTCAACAAAAGTCCATTTGTCCTGCTACTCCTTTGGTGACACACAGGTAGTGTCAACTGGAACATCAGTAGGTATTTGATATAACCTTTTTGTTAGCAGAAAATTAGTCACTGCTTAGGTTTTAAGTCTGCCAAACTGGGACTAAGTATGCTTTAAATAGGTATAGATTCTTCGGTTTCTTAGAATTCTAGATCCATGATGTACTTTAATTTTTTAATGACTGTATATTTAGTTTTAACCACTACTTAAAGTAATCTAAGCAAAGAATTCCTATTGCTCTCCATCAGTTCAAGATAAAAAAACAAAAACAAAACAAAACGAAACCTATGTTAAAATTTGACCCGTCAAAATTACTCAGTATTGAGCTGCCTAAAGCCGTTTTCCAGAAAGAGACTTGCCTGACTATAGAAGAATTCCCCTTTGATCATAGGGTCAGTGAATAATCAGGAAAGTAAAAGATAAGACCAAAAAAAAAAAAAGCTTTTTATTTCAATTTCAATTTAGAGTTTTTGTTCTTATTATAATTAGCTACAAATAAGACTATACTGTCATTTGAATATGGGCAACAGGGGGCACTCAGAGAAGAAAGTACCATGCCTTAGAGCGTGTAGAAACTTCCAGCAAATTTCTTGATCCTTAGTGCAGTTTAGTTTTTAAATTACAGATGGAGCAAAAGGAATATTTTTTTCTGCAATTATGAATGTTACTGATTACATTGAATTGGACTTCTTTTATTTGTGAGAGATATGTACTCAAATTTCTAAATTATTTTGATAGTACGTACTCAGCAAGTACCAAGTACCATCTGATTTTGTGGATGGGAATTTCTATAAAATAGAATCATGAGAACAGTTTGAAATATATATGTGTGTTTTTCGTTTGGGTGTATCAATGTGTAACAGTGACCTTTTCTTTTGGCTTTAGGGTGATATTTATAAAACAAGGGGTGGTGGACAATCTGTTCAGTTTACTGATATTGAGACTTTAAAGCAAGAATCACCAAATGGGTAAGTAACCATCAAAAATCTCTGTATAAAAGTTGGTCATTTTCTTAGCTGCTCATTTTGGAGGAACAGAATAGCCTGTGAAATGTATCATTAATTCTCCAAAGGGATGTAGATAGTATTCCCCTACTTCTAATATTTTTCCTCTTCTTAGATGGAAAAATAATTGTTGCATCATGTTTCCCCTTTTTCAGTAGTCGAAAACGAAGATCTTCCACAGTAGCACCTGCCCAACCAGATGGTGCAGAGTCTGAATGGACCGATGTAGAAACAAGGGTAGGGGAAAAATTAAATATTTGTCTGCCTACTAAAATTAGGTTTGTCATGTTTTAAACCCCACAGCTCTAGATTTTTATGCTCTTTGAAAATGCTGAGGTATAATCTCACATTGCCAGTGCACCATGTAGGCCTATTCCTAGAATAACAAGAATCCACTTCATCAGGAACTCCCTTGCAAGTGTTATTCCTGAGGAGAATCTCTTGGAAAGAACATGGGAAGGTAGGGGTCAGGAGGCTAAGCTATGGCCTTAGCCACCAACTCTCTTTGCAAACTTATCTAAAATGAGATAAGTTACCTGGATGACCTAAAGACCTTTCTGGCTCACAACATTTGTGGCCTGTGCCAGAAATAAATTACGAGTGACTGGTGTTTTAACGTAAGAGTCTTTGCTGAACTAGAAAGCAATATTGCATTTCACCTAGGTGTGGAGCCTGCTAAATAACTGTGTTTTATAGACTATTGAGAGGAGCTGATCTTTTTCCTCTTGTCATTTTCCTCTCAGTGTTCTGTGGCTGTGGAGATGAGAGCAGGATCCCAGCTGGGACCTGGATATCAGCATCACGCACAACCCAAGTGAGTACTGACTGTAATTGGGGTCTTGCTGTGTGCTTTTTTCCTCCTCTGGTCTTTACATTATCACTCCTTCTACCAGCCATCCACTTATTCTTCAGAAGAAATATATGGTTTTGGTTTTCCCCTTGGACTATCTGGGCCTCCATGGGCAGACTGCAGTAGGCAGCTGGAATGCTGAGAGCCTCAGAAGGCTGGATAAGAGCAATCAGAGCTGCAAGGCAGGCGGTGGTGGAAGATTGGTGGCTCATGTTCATATTCTGCCAACGCTCATAAAGCTTTCTGAGGCTGAACTGAGAGTACCTCTAAGGAGGGAAGGCTAAAGGCTTAAGTTGGAGACTAGACAGCTTTGTGTAAATCATTGTTTCCTGACTTGCTTCTTGGTCTTGGTGTAGCAATAGGTGTTCACTAAAATAAATAACACTGAATGAAAGAATTTATAGTAGGGAAGGAATCATACCTTTTCTTCTTCTGTTAAACTTATACTCAGGAGTCTGACCCAGTCTTTTTCCATATTTTAATAAAATCCCTTCTTTACAAATACATACATATATGTATATCACATGTTATATACATATATGTATATAAAATGTTATATGTATATAACATTTTAAACATTTACATACCTTACTGAGCAATTTAGAAAATTGTTGCAGCAGGATAAAGATGGGAAATCCTTTCTAAATTTAATACTAAGATAAGCATATTTTATAAAAGTTGTTTGCTTTCTCAGAGGGACTTGAATTATCTCATCATAAAACAGCAGTTCTCAAAGGCCTCCTAAAGATTGATTTGCTATGAATGTGTTACTAATTGCAAAGTTCAACTCTAAGTGCTGGTTGTTATGTTTTAGGCGCAAAAAGCCATGAACTGACAGTCCCAGTACTGAAAGAACATTTTCATTTGTGTGGATGATTTCTCGAAAGCCATGCCAGAAGCAGTCTTCCAGGTCATCTTGTAGAACTCCAGCTTTGTTGAAAATCACGGACCTCAGCTACATCATACACTGACCCAGAGCAAAGCTTTCCCTATGGTTCCAAAGACAACTAGTATTCAACAAACCTTGTATAGTATATGTTTTGCCATATTTAATATTAATAGCAGAGGAAGACTCCTTTTTTCATCACTGTATGAATTTTTTATAATGTTTTTTTAAAATATATTTCATGTATACTTATAAACTAATTCACACAAGTGTTTGTCTTAGATGATTAAGGAAGACTATATCTAGATCATGTCTGATTTTTTATTGTGACTTCTCCAGCCCTGGTCTGAATTTCTTAAGGTTTTATAAACAAATGCTGCTATTTATTAGCTGCAAGAATGCACTTTAGAACTATTTGACAATTCAGACTTTCAAAATAAAGATGTAAATGACTGGCCAATAATAACCATTTTAGGAAGGTGTTTTGAATTCTGTATGT
AAATCTTAACTGAAAGCACTCAGAAGTATTTCACATTTCTTTAATCATTTTATTCATATGGTTCTTATTATACCTATGTTCTTAGGATTGTTTTCTGTTTTGTTTAGAAGCCTAGAAAATGTGTAGGGCTTTCATTGATCTTATTGAAGATTTTAACAGAGTTGTGGACATAATAGATTACCTCTCAATAGCAGGGATAAATATTGGTTTTTGATCAAGAATATGAAATGAGTTGTTTGTCCTGAACCACCCCCAAGCAGGAAAGACTTGCAGCATTACCAGAATTTTTTCTTTTATCCTTTATTGAAAGGGAAACTCCCAGATAGAATGTGTAACATACAAGTTGGTGTTAAAGATGTTTGTTGGTTTTGTGTTTAAATGCAAAGATCATGTTTAAATTACTTGAATAAAATATTTAGCTTTGGAAAGGTTTGCTATGATACTGTCATCAACTAATGTAGCCAAACCTGCTGCACTTCTAATAATACCCTTAAATTAATTCTGGGTTATGCTTGTTTCTCAGTTACTCTTTCAACCTGATCAGAACGCACCACCAATTCGTCTCCGACACAGACGATCACGCTCTGCAGGAGACAGATGGGTAGATCATAAGCCCGCCTCTAACATGCAAACTGAAACAGTCATGCAGCCACATGTCCCTCATGCCATCACAGTATCTGTTGCAAATGAAAAGGCACTAGCTAAGTGTGAGAAGTACATGCTGACCCACCAGGAACTAGCCTCCGATGGGGAGATTGAAACTAAACTAATTAAGGTAAAAAACTAATTTTCACAGGAGAAAAAAATATATTTAAAAATTCAACAAAAGTCCATTTGTCCTGCTACTCCTTTGGTGACACACAGGTAGTGTCAACTGGAACATCAGTAGGTATTTGATATAACCTTTTTGTTAGCAGAAAATTAGTCACTGCTTAGGTTTTAAGTCTGCCAAACTGGGACTAAGTATGCTTTAAATAGGTATAGATTCTTCGGTTTCTTAGAATTCTAGATCCATGATGTACTTTAATTTTTTAATGACTGTATATTTAGTTTTAACCACTACTTAAAGTAATCTAAGCAAAGAATTCCTATTGCTCTCCATCAGTTCAAGATAAAAAAACAAAAACAAAACAAAACGAAACCTATGTTAAAATTTGACCCGTCAAAATTACTCAGTATTGAGCTGCCTAAAGCCGTTTTCCAGAAAGAGACTTGCCTGACTATAGAAGAATTCCCCTTTGATCATAGGGTCAGTGAATAATCAGGAAAGTAAAAGATAAGACCAAAAAAAAAAAAAGCTTTTTATTTCAATTTCAATTTAGAGTTTTTGTTCTTATTATAATTAGCTACAAATAAGACTATACTGTCATTTGAATATGGGCAACAGGGGGCACTCAGAGAAGAAAGTACCATGCCTTAGAGCGTGTAGAAACTTCCAGCAAATTTCTTGATCCTTAGTGCAGTTTAGTTTTTAAATTACAGATGGAGCAAAAGGAATATTTTTTTCTGCAATTATGAATGTTACTGATTACATTGAATTGGACTTCTTTTATTTGTGAGAGATATGTACTCAAATTTCTAAATTATTTTGATAGTACGTACTCAGCAAGTACCAAGTACCATCTGATTTTGTGGATGGGAATTTCTATAAAATAGAATCATGAGAACAGTTTGAAATATATATGTGTGTTTTTCGTTTGGGTGTATCAATGTGTAACAGTGACCTTTTCTTTTGGCTTTAGGGTGATATTTATAAAACAAGGGGTGGTGGACAATCTGTTCAGTTTACTGATATTGAGACTTTAAAGCAAGAATCACCAAATGGGTAAGTAACCATCAAAAATCTCTGTATAAAAGTTGGTCATTTTCTTAGCTGCTCATTTTGGAGGAACAGAATAGCCTGTGAAATGTATCATTAATTCTCCAAAGGGATGTAGATAGTATTCCCCTACTTCTAATATTTTTCCTCTTCTTAGATGGAAAAATAATTGTTGCATCATGTTTCCCCTTTTTCAGTAGTCGAAAACGAAGATCTTCCACAGTAGCACGTGCCCAACCAGATGGTGCAGAGTCTGAATGGACCGATGTAGAAACAAGGGTAGGGGAAAAATTAAATATTTGTCTGCCTACTAAAATTAGGTTTGTCATGTTTTAAACCCCACAGCTCTAGATTTTTATGCTCTTTGAAAATGCTGAGGTATAATCTCACATTGCCAGTGCACCATGTAGGCCTATTCCTAGAATAACAAGAATCCACTTCATCAGGAACTCCCTTGCAAGTGTTATTCCTGAGGAGAATCTCTTGGAAAGAACATGGGAAGGTAGGGGTCAGGAGGCTAAGCTATGGCCTTAGCCACCAACTCTCTTTGCAAACTTATCTAAAATGAGATAAGTTACCTGGATGACCTAAAGACCTTTCTGGCTCACAACATTTGTGGCCTGTGCCAGAAATAAATTACGAGTGACTGGTGTTTTAACGTAAGAGTCTTTGCTGAACTAGAAAGCAATATTGCATTTCACCTAGGTGTGGAGCCTGCTAAATAACTGTGTTTTATAGACTATTGAGAGGAGCTGATCTTTTTCCTCTTGTCATTTTCCTCTCAGTGTTCTGTGGCTGTGGAGATGAGAGCAGGATCCCAGCTGGGACCTGGATATCAGCATCACGCACAACCCAAGTGAGTACTGACTGTAATTGGGGTCTTGCTGTGTGCTTTTTTCCTCCTCTGGTCTTTACATTATCACTCCTTCTACCAGCCATCCACTTATTCTTCAGAAGAAATATATGGTTTTGGTTTTCCCCTTGGACTATCTGGGCCTCCATGGGCAGACTGCAGTAGGCAGCTGGAATGCTGAGAGCCTCAGAAGGCTGGATAAGAGCAATCAGAGCTGCAAGGCAGGCGGTGGTGGAAGATTGGTGGCTCATGTTCATATTCTGCCAACGCTCATAAAGCTTTCTGAGGCTGAACTGAGAGTACCTCTAAGGAGGGAAGGCTAAAGGCTTAAGTTGGAGACTAGACAGCTTTGTGTAAATCATTGTTTCCTGACTTGCTTCTTGGTCTTGGTGTAGCAATAGGTGTTCACTAAAATAAATAACACTGAATGAAAGAATTTATAGTAGGGAAGGAATCATACCTTTTCTTCTTCTGTTAAACTTATACTCAGGAGTCTGACCCAGTCTTTTTCCATATTTTAATAAAATCCCTTCTTTACAAATACATACATATATGTATATCACATGTTATATACATATATGTATATAAAATGTTATATGTATATAACATTTTAAACATTTACATACCTTACTGAGCAATTTAGAAAATTGTTGCAGCAGGATAAAGATGGGAAATCCTTTCTAAATTTAATACTAAGATAAGCATATTTTATAAAAGTTGTTTGCTTTCTCAGAGGGACTTGAATTATCTCATCATAAAACAGCAGTTCTCAAAGGCCTCCTAAAGATTGATTTGCTATGAATGTGTTACTAATTGCAAAGTTCAACTCTAAGTGCTGGTTGTTATGTTTTAGGCGCAAAAAGCCATGAACTGACAGTCCCAGTACTGAAAGAACATTTTCATTTGTGTGGATGATTTCTCGAAAGCCATGCCAGAAGCAGTCTTCCAGGTCATCTTGTAGAACTCCAGCTTTGTTGAAAATCACGGACCTCAGCTACATCATACACTGACCCAGAGCAAAGCTTTCCCTATGGTTCCAAAGACAACTAGTATTCAACAAACCTTGTATAGTATATGTTTTGCCATATTTAATATTAATAGCAGAGGAAGACTCCTTTTTTCATCACTGTATGAATTTTTTATAATGTTTTTTTAAAATATATTTCATGTATACTTATAAACTAATTCACACAAGTGTTTGTCTTAGATGATTAAGGAAGACTATATCTAGATCATGTCTGATTTTTTATTGTGACTTCTCCAGCCCTGGTCTGAATTTCTTAAGGTTTTATAAACAAATGCTGCTATTTATTAGCTGCAAGAATGCACTTTAGAACTATTTGACAATTCAGACTTTCAAAATAAAGATGTAAATGACTGGCCAATAATAACCATTTTAGGAAGGTGTTTTGAATTCTGTATGT
Task1_train_21649
A mutation found in THSD4 (thrombospondin type 1 domain containing 4) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Aortic aneurysm, familial thoracic 12
CTGCTGCAGGGATGGTGGCCTCTCCAAGTCACCCAGCTGTTCACATCCTACTTGAACTCTGGCTCAGGCCAAAGGCATGTGAAAAGCATCTTAGTTAACTCAAAAGCCTTCATGGAGACAGCTGGTGTTGCTGGAAGCTTACATGGGCCCAGCTTTAGGGTTGCCAGCAGGTTGGCTTCCAGAGCCCTAGGAGACAGGCTTCTGTGGCCTGTCCGCCTCTCCCTGATTGTCAGAGCTCAGCCCACCCTGCTTGTTCACCCTGCCTGTTTTTTCCTACCAGTTTCCATCATTTTCTGCTTTAGGGGGCTTCTTGCTCCATATGGTTCGGCTCAGGCCACAGCAGGGTAATGACCACGCTGGGCATTTGTACCAGCAGCCTCCCCAACTGCGACTGTCCTTAATCAAGCAGGAGATGTTTACCCTCACACCTGTTTTCAGTCCTTCTTCTGGTCCCTCATCTTCCGGGAGACCTAATATTTCTGATACATACAGTAGATTTCTCTACAAATCCTTGAAGACTTTGAACTATCCTATTAGCAGTTTATTCCAGAGACTTCTACACAGTACTGTTTAATGTTTCAGGGGCCAGGCTCCTTTTCCTTCTGATTATTCACACACACACACACAAACACACACACACACATACACACTCTCTTAAACAGAGTATAGCTTGGGTTCAACAAAGCTAGATCATACTTTATCCACAATATGAATTAGAGATTCTGATCTTGTTATTTTCTGTCTCATACTTATTTACTTTATGCCACACTTTGCTCATATTTACCATTTATAAATGAGGAAGAGATAAGCCAGAGGGAGCAGTATGTTTTCCTTGAGTAGTCTAGTGCATCAGGATCACCTGGATAAACTTGATAAAATACAGATCTCTGGATCTTATCCCAGATTTACTGAATAATAATCCTTAAGGGAGGGATCCAGAAGTTTGCATTTCCAGAAAGATCTCTGGGTGATTGTTTTGCATGCAGAAGGTCGGAAATTCCTGCTTCATGTGGGACAGAATTTAGACTAGAATTTAGAGAAGATGGGGCGGACAATGAGAGACAGCCTGGTGGGAACCAGGCTGCTTGCATTTAAATCCAGGCCCCACACCTCACTGGCTGTGTGACTCCTCCATGCCTCAGTTTGCTCTCATGAAAAATCTGTAAAACTACAGTGTTTACCTTATTGGTTGTTGTGAAGATTAAATGAGTTCACATGTGGAACATGTTTAAAGTAGTGCCTGGCAAAGGTAAGGGCTCTGAACATGTCTGCCGTGGCTACTATTCCATGCAAGGGGAATGGCATGAACAAAGTCAAACAGAAGCAGATGGCCTCTTTGAGAGAATGGAGTAAACTGATTTGTCAGAAGTAGAAGGTTTAGATCAGTGGTTTTCAAATTATAGTGTGCAAAAAAATAACCTAGGGAGCTTGTTAAAAGTTTCTTGCCCCTATAACGATTCTGAGTTGGTATACATGAAGCCTGGGGATCTGCATTTAAACTTTTTGATGCAGGTTTTGAGCAAATGTTCAGAAACCCAGTAGTTTAGGTAGAAGAGGGCTGGTATTTAAAGTTGGAAAGGGGCCCGGCGCGGTGGCTGACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAGCCCATCGCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGGGCCACTGCACTCCAGCCTGGGCGACAAGGGTGAGACTCCATCTCAAAAAAAAAAAAATAAATAAATAAAGAATAAAAATAAAAAATAAATAAAGTTGGAAAGGTATCCAGGGTTTGGAAATGTATCCTGGAGCTATGAAAAGTATGGACACTAATTGCATATTTAATATCTGCTTTATTAGGTATGTCCAGAAAGCAGTAGAAGTATCCGGGAGGTACAGTGTGCATCCTACAACAACAAGCCATTCATGGGCCGGTTTTATGAGTGGGAACCATTTGCAGAAGGTAAGAATAGACCCAGCCCTGTCCATAGAAGTTACTTTAGTCTGTTTTCCATTCTTGTTGACTTCTGATTGATGTTGGAGGTATTGGTGTGATCCTGGCTGGGGTGTCAATAGGGGAGAAAGTGTGACTCCAGGGCAAAGAGAAGCCTGCATGGGTCTTTACCAAAGGTAGCATAGCTCAGGTGACGCCTGGACCATCTTCGGCATGAGTCAGATGGATGAGGCACTGATGGAAACAAGCAACATCCAAGGATGGCAGGGTGAGGGGGACAGAACAGGGTTCAAGGAATCAGTTGGAGAAGAGGTTCAAACATAAAGTTGTGAGCCGTGAGTGCAGATGGAGTTTCCCTTTCCTTGGTTCCTGCTACAAGGGGTAGTATGGGAGCTTAAGAGAACATGTGGGGTTGTACAGTTGTATGGTTCTCACCTGTAGGGGGCCTCACATGCTGATTCCAAAGATAATAGTAGGCAGGCATTGCCCGTGAGTACAAGATCCCCGTCATTTCCAGATGACAGAAGATCCAGAGTTGGTAGAGCAAGTTGATCCCACTCTGCATGCTGGAGTCACTTTTCTTTGTTGAAATCCAGATGATAACATGGCTTGCGGACTGAGAAGTTTTAACATTCTGAGATATTTCTACCCACCCCTGGAGAAAGTGGGCTCAGAAGAGGTGTTGGGTCAAGCAGAATTTGTGGGGGTTCTATGCTCACAGCCAAGTTGGCTGGAGAGGGAGTCCAGCTGCCTTCAGGGCCCAGTGGAAGAGCTCTGCCCAGCCAGCCCTTCTCAGCTTCAGCCCGAGGCAGTGGCTGGACAGCTAAGGTTGGCCAAGACCCAGAGTATGGAGCACTGCACAATGTGCAGGATCTGGAGAAATTGCCTTGGAAGAGGGATTGATAGTGAGTTGTGATGATTTTATTGCAGAATCAATGCCTGGGGAAGCCAAACTGTGCAAGGTGGTTCTATACTTAGAGGCCCTTGGGGAGGAGGGAAGTGGATTAGTATCTGACTGCTCTGAAATTGGATGCTAAATTGTTTTTATCTGTGCAGTGTTCTCAGAGACTCCATAGCTTCTATTAGATTCTCAGAGTGGTCCCATGACCTCAAAATTGTTAAGAACTAACTTGACTGAAAAATTGAGACTATCAAATTCAAGCAGGAAGGATGTACAGAGGAAACATAGAGCTAGCTGAGTGCACATACAACGGGTGGGGAACAGGGTGAAGGGTGAGCAAAAGAAGGATGCCAAAGTGAAATTTTGATTTGATTCTGTGGATAGAGCTTGGTTCTGACCTTTTTCATTTTTAAGGGCATTATGTTAAATTTAAGGTGGTATCCTGATTTGGATCCTGAAACAGAAAAAGGGCATTGTTGGAAAACCTAGTGAAATAGGCATAAATTGTATAGTTTAGTTAATAGTATTGTACCAGCGTTAATGTCTTAGTTTTTATAAATTGTTTGTTTTTTGTTTTTGTTTTGTTTTTGAGGTGGAGTCTTGCACTATTGCCCAGGCTGGAGTGCGGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCAACACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTTGCCATGATGGCCAGGCTGACCTCGAACTCCTGATCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGATTACAGACGTGAGCCACCGCACCCAGCCTGTAAATGGTTTTGTAACATGTTAACATTATGCGAAGCTGGGTAAAGAAAGGGTATACAGGAACTTTTGTACTATCTTTGTAACTTTCCTGTAAATCTAAAATGATTTCAAAATAAAACGTCTTGAAGGCATTGTACTCCCAATTAGCTATGTCTTACATGGATTCTGGTGAAGACAAAGTGTAATACTCACTTAATATGGGTGAGGAAGAGTGCACTGGGTTAAATACT
CTGCTGCAGGGATGGTGGCCTCTCCAAGTCACCCAGCTGTTCACATCCTACTTGAACTCTGGCTCAGGCCAAAGGCATGTGAAAAGCATCTTAGTTAACTCAAAAGCCTTCATGGAGACAGCTGGTGTTGCTGGAAGCTTACATGGGCCCAGCTTTAGGGTTGCCAGCAGGTTGGCTTCCAGAGCCCTAGGAGACAGGCTTCTGTGGCCTGTCCGCCTCTCCCTGATTGTCAGAGCTCAGCCCACCCTGCTTGTTCACCCTGCCTGTTTTTTCCTACCAGTTTCCATCATTTTCTGCTTTAGGGGGCTTCTTGCTCCATATGGTTCGGCTCAGGCCACAGCAGGGTAATGACCACGCTGGGCATTTGTACCAGCAGCCTCCCCAACTGCGACTGTCCTTAATCAAGCAGGAGATGTTTACCCTCACACCTGTTTTCAGTCCTTCTTCTGGTCCCTCATCTTCCGGGAGACCTAATATTTCTGATACATACAGTAGATTTCTCTACAAATCCTTGAAGACTTTGAACTATCCTATTAGCAGTTTATTCCAGAGACTTCTACACAGTACTGTTTAATGTTTCAGGGGCCAGGCTCCTTTTCCTTCTGATTATTCACACACACACACACAAACACACACACACACATACACACTCTCTTAAACAGAGTATAGCTTGGGTTCAACAAAGCTAGATCATACTTTATCCACAATATGAATTAGAGATTCTGATCTTGTTATTTTCTGTCTCATACTTATTTACTTTATGCCACACTTTGCTCATATTTACCATTTATAAATGAGGAAGAGATAAGCCAGAGGGAGCAGTATGTTTTCCTTGAGTAGTCTAGTGCATCAGGATCACCTGGATAAACTTGATAAAATACAGATCTCTGGATCTTATCCCAGATTTACTGAATAATAATCCTTAAGGGAGGGATCCAGAAGTTTGCATTTCCAGAAAGATCTCTGGGTGATTGTTTTGCATGCAGAAGGTCGGAAATTCCTGCTTCATGTGGGACAGAATTTAGACTAGAATTTAGAGAAGATGGGGCGGACAATGAGAGACAGCCTGGTGGGAACCAGGCTGCTTGCATTTAAATCCAGGCCCCACACCTCACTGGCTGTGTGACTCCTCCATGCCTCAGTTTGCTCTCATGAAAAATCTGTAAAACTACAGTGTTTACCTTATTGGTTGTTGTGAAGATTAAATGAGTTCACATGTGGAACATGTTTAAAGTAGTGCCTGGCAAAGGTAAGGGCTCTGAACATGTCTGCCGTGGCTACTATTCCATGCAAGGGGAATGGCATGAACAAAGTCAAACAGAAGCAGATGGCCTCTTTGAGAGAATGGAGTAAACTGATTTGTCAGAAGTAGAAGGTTTAGATCAGTGGTTTTCAAATTATAGTGTGCAAAAAAATAACCTAGGGAGCTTGTTAAAAGTTTCTTGCCCCTATAACGATTCTGAGTTGGTATACATGAAGCCTGGGGATCTGCATTTAAACTTTTTGATGCAGGTTTTGAGCAAATGTTCAGAAACCCAGTAGTTTAGGTAGAAGAGGGCTGGTATTTAAAGTTGGAAAGGGGCCCGGCGCGGTGGCTGACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAGCCCATCGCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGGGCCACTGCACTCCAGCCTGGGCGACAAGGGTGAGACTCCATCTCAAAAAAAAAAAAATAAATAAATAAAGAATAAAAATAAAAAATAAATAAAGTTGGAAAGGTATCCAGGGTTTGGAAATGTATCCTGGAGCTATGAAAAGTATGGACACTAATTGCATATTTAATATCTGCTTTATTAGGTATGTCCAGAAAGCAGTAGAAGTATCCGGGAGGTACAGTGTGCATCCAACAACAACAAGCCATTCATGGGCCGGTTTTATGAGTGGGAACCATTTGCAGAAGGTAAGAATAGACCCAGCCCTGTCCATAGAAGTTACTTTAGTCTGTTTTCCATTCTTGTTGACTTCTGATTGATGTTGGAGGTATTGGTGTGATCCTGGCTGGGGTGTCAATAGGGGAGAAAGTGTGACTCCAGGGCAAAGAGAAGCCTGCATGGGTCTTTACCAAAGGTAGCATAGCTCAGGTGACGCCTGGACCATCTTCGGCATGAGTCAGATGGATGAGGCACTGATGGAAACAAGCAACATCCAAGGATGGCAGGGTGAGGGGGACAGAACAGGGTTCAAGGAATCAGTTGGAGAAGAGGTTCAAACATAAAGTTGTGAGCCGTGAGTGCAGATGGAGTTTCCCTTTCCTTGGTTCCTGCTACAAGGGGTAGTATGGGAGCTTAAGAGAACATGTGGGGTTGTACAGTTGTATGGTTCTCACCTGTAGGGGGCCTCACATGCTGATTCCAAAGATAATAGTAGGCAGGCATTGCCCGTGAGTACAAGATCCCCGTCATTTCCAGATGACAGAAGATCCAGAGTTGGTAGAGCAAGTTGATCCCACTCTGCATGCTGGAGTCACTTTTCTTTGTTGAAATCCAGATGATAACATGGCTTGCGGACTGAGAAGTTTTAACATTCTGAGATATTTCTACCCACCCCTGGAGAAAGTGGGCTCAGAAGAGGTGTTGGGTCAAGCAGAATTTGTGGGGGTTCTATGCTCACAGCCAAGTTGGCTGGAGAGGGAGTCCAGCTGCCTTCAGGGCCCAGTGGAAGAGCTCTGCCCAGCCAGCCCTTCTCAGCTTCAGCCCGAGGCAGTGGCTGGACAGCTAAGGTTGGCCAAGACCCAGAGTATGGAGCACTGCACAATGTGCAGGATCTGGAGAAATTGCCTTGGAAGAGGGATTGATAGTGAGTTGTGATGATTTTATTGCAGAATCAATGCCTGGGGAAGCCAAACTGTGCAAGGTGGTTCTATACTTAGAGGCCCTTGGGGAGGAGGGAAGTGGATTAGTATCTGACTGCTCTGAAATTGGATGCTAAATTGTTTTTATCTGTGCAGTGTTCTCAGAGACTCCATAGCTTCTATTAGATTCTCAGAGTGGTCCCATGACCTCAAAATTGTTAAGAACTAACTTGACTGAAAAATTGAGACTATCAAATTCAAGCAGGAAGGATGTACAGAGGAAACATAGAGCTAGCTGAGTGCACATACAACGGGTGGGGAACAGGGTGAAGGGTGAGCAAAAGAAGGATGCCAAAGTGAAATTTTGATTTGATTCTGTGGATAGAGCTTGGTTCTGACCTTTTTCATTTTTAAGGGCATTATGTTAAATTTAAGGTGGTATCCTGATTTGGATCCTGAAACAGAAAAAGGGCATTGTTGGAAAACCTAGTGAAATAGGCATAAATTGTATAGTTTAGTTAATAGTATTGTACCAGCGTTAATGTCTTAGTTTTTATAAATTGTTTGTTTTTTGTTTTTGTTTTGTTTTTGAGGTGGAGTCTTGCACTATTGCCCAGGCTGGAGTGCGGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCAACACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTTGCCATGATGGCCAGGCTGACCTCGAACTCCTGATCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGATTACAGACGTGAGCCACCGCACCCAGCCTGTAAATGGTTTTGTAACATGTTAACATTATGCGAAGCTGGGTAAAGAAAGGGTATACAGGAACTTTTGTACTATCTTTGTAACTTTCCTGTAAATCTAAAATGATTTCAAAATAAAACGTCTTGAAGGCATTGTACTCCCAATTAGCTATGTCTTACATGGATTCTGGTGAAGACAAAGTGTAATACTCACTTAATATGGGTGAGGAAGAGTGCACTGGGTTAAATACT
Task1_train_21650
Given this context: Chromosome 15, gene THSD4 (thrombospondin type 1 domain containing 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Aortic aneurysm, familial thoracic 12
GCAGCCTCAATCTCCCAGGCTCAAGCCATCCCCTGACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAACTTTGGTATTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCCATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACTGTGCCCAGCCTAGGCTGACTTTCAAGCAATGCTCTAGTAAGAAACTCTACCCATAGTGATTCTGATGATTCTGTGTACGCTGCTGCGGGCTCACGCTGACTTCCTGTTGACTGAAGGTTGTCTCTCACTCTCGCTCTCTCATTCCTGAACCAGCTGGGACATCGGGGAGTGGTCTGAGTGCAGCAAGACCTGTGGCCTGGGCATGCAGCACCGCCAGGTTCTGTGCCGCCAGGTGTACGCCAACCGCAGCCTGACGGTGCAGCCCTACCGCTGCCAGCACCTGGAGAAACCTGAGACCACCAGCACCTGCCAACTCAAGATCTGCAGCGAGTGGCAGATCCGGACCGACTGGACCTCGGTACGCAGGCAGGGCAGCCCGCTCTGCAGCTCCCTCTCCAGCTCCCACCACACTTTCCAGCCTCCCCCACCAAGACCTGAGATGGGTAACCCTGAGTTCCACAGGAGGGAACCCGTCCCGTGGGGGTCTGGACGGCTGTTTTTGCAAACCACAGGATGTACCAATAGTTCAATAGAGTTCAGGGTAGTGTGTGCCACCCACAGCCAACTTTATGAGTGAGCCCAGGGGGAGCCCTCTGATACTGGCCTCATCTGCTTTGTGAGTCATGGTGAAGTGAAGGTTGGCAACTGCTGGTAGAGCCAACTCCTTCCAATTTTCCCTACCCATTTTATAGCTGAAAAGACTGAGGCCTGGAAGAATAGAGTAGTGTCAGTCAAAATTAAGGCTGTTAAGGCAGAAATAATTTGATAAAAGATTTATTGGAAGCCAATGTAAGGATCAGCCCAAGAAGACACACGAACAACGTTGGACATGTTCCAAAGTCTGTTACAAGTTGAAAGGCTTTTAGAAGAAAGTTTAGGAGAGGAGACGGGGACCCCTTGAATCGGAGTTGTCTTTTTCATTGGAGGGTACAGCACAGAGGTTGCAATCACTGGCTACAGATGACGACATACAGGCTAAAATGTTTTAAGTGCAAGACAGTCAATAAAACTTCATGAGTCAGAAATAAATCAGCAAAACTTTATGACTCAGAAACAAACCAAACAAACCAGTGTCCTCTTCAATGTCCACAGGTTACGTATTAATCAGTATGTCAACAGTTTGAAGAATTCACAATAAGATTTGAGGAACTGACAATAATATTCTTTACTCTAAACAGGATGTAAGCCATGAATCCTAAGACCTTCTTCCCAGGCAACTTAGAACATAGTTTATTCTTCAAGGGCAGAGGTGCATGACTTAACCCCTTGCCTGCCATGGCGTTGGGTCCTGTTTATAATTTGGTATCTTATTGCCACAGAGAGTCCATTCTGTCAGTCTTATGATTTCTCCCTTAACATCAGTGCTGGTCGGTTGTGTCTAGACTGCAAAACGGAGGTGGTATGACAGGGTGTGTCCAACCTTCCATCCTGTCATGGCCAGGAAATCCATTTTTAAGGTTTCTCTGGGGGTCTCCTTGGCCAAGAGGAGGCCCATTCAGTCAGCTGGGAGGCTTAGGATTTTATTTTTAGTTTACAGTAGGCGAGGCATCTAAGAAGGTCTTGTAGAAAAGGGTTGTGGAGTTTTCTAGGGCTCAGATCCCTGCCCCAGCTGGTGACATGCATGACAGAGCCTCAGTCTCATGGGGCTGATCACAAAGGCTGCGGGCTCCATACTGGCAATTCTCTCCCAGAGCTGAAGCTGCTGGTTCCCCTGACGTCAGTGTGCTGTGTTTCAGTGCTCGGTGCCCTGCGGCGTGGGACAGAGGACCCGTGATGTGAAGTGTGTGAGCAACATTGGGGATGTGGTTGACGATGAGGAATGCAACATGAAGCTCCGGCCGAATGACATTGAGAACTGCGACATGGGACCCTGTGCCAAGAGCTGGTTCCTCACCGAGTGGAGCGAAAGGGTGAGTGTGATGGCGGGCAGAGCGCCGGGGACCGAGGTCTGCCAGGTGCCTCCAAAACCACACAAAGATGAGTCACTAGCTCAGAATCCCAAGACTGATTTCTGGCTCTGGGGGGAAAAAAAAGGCCCAGAGAGGAATTATCGTAGGCTTTCTATCCTTATGTGAGGACTGAGGGTCTCCAAAGGTGAGGAGGGTGTATGCAAAACTTGATTGAATTCTCCTTAGCACTCCATGTGGTCACTCCATAATACTAGGTGAAGTGAATCATTACATCCCATCGTTCATATGTCTTGTAAGTGCCTGGTGTCTCATAGACACTCAGCAATGGCAGGCCCCTCTACTGCTTTTTGCCAACTCAAAACATCCCACACCCCGTTCCCTCCCCAGTAGCCTGGCCTCCCATGGGAAGTCTCAGGTGTCAAAGAATAACTCAAAGGCATATATAGTCAACCATTAGCCCACCAGTTACCTGGATATAAGGGAAAACAGTCATATATTAAATTCATCCATCAAAGGCAAAAGGAGGATTTATATGAAAAGGGGTTTCTGCAGATGGAGTGATGTTGGTTACACAACAGCATGAATGCACCTAATGCCCTGGAGGTGTGGGCTTAAAAGTGGTTACGATGGTCAATTTCATGCTATGTGTATTCTACCACAATCAAAAATGAAGTTTGAGAAAAGACACTAAACAAATTGTAGAACATACCTTGGGACAGGGAGAAGAAAAGAGGAAGGAGATAAGGAATTGTGCTTCCTTTCCTGGTGGGATCGGCGCATTGGCGGGCATGGGATGGCCAGTCAGAGGGTTTGCCCAGGGCAGCTGCACAGCTGTGAGAGGCACCAAGTCCAGATTCTGGATTCTCTAGGAGATCTAGGGAGTTTACCTGGGATGAGGACATGATTGGCTATCTCTGACCTTGGTTAGCGGCCTACCTCTCGGATACACTAGTTCTGCCCCACTTCCCTTGCTAGAATCCCGTGCGTACACGTTACCTGTGAACCGCATTAAAGTGTAGGTCTGAGGCAGCAGGTGTGGGGAGGAGCCAGGGATTCTACATTTATTTTCTTTCTTTTTTTTAATATTTTTATATTTTTAAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTGAGACCGGGTCTCATTCTATTGCCCGGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCGACCTGCTGGGATCAAGCAATCCTCCTGCCTCAGCACCCCCTGCCCCCCTCCCGCCAACGTAGGTGGGACTATAGGTGCGCGCCACCACCCCGGCTAATTTTTTGTATTTGTTTGTGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCACCTCGGCCTCCCGAAGCCCTGGAATTGTAGGCATGAGCCACTGTGCCTGGCCACAGCCTACATTTCTAATAGGTTCCCAGGGTCTCTGAGGCCACTGGTCCAAGGACCACACTCTGAATAACAAGGCCATAAAAAAGACAGAGGAGCCCAGCCATGTTCTTGGATCTTAGGAGACACGATGCAGCCCATGAGCCCCCACCCCGTCCCCACTCCCAGCATCATGAGAACAACAACCATAGTATCTCAGACTCAAAGAAGGACCCTTTCACGCAGTTTGGGGATATCAGCAGACATGCCCCATACGGCCACATTGGCTGACTCCAACTGGTCAGTGTCCATTCTGACCGGTCAATGGCCACCATGCACCTGTTATTGAGTATTTTGAATATCACCCCTAGAGGTGTTCACATAGGTTTTCTCTCCCTCTGCGGTGTAAGATGCCCCTTCATTTTGTCCCTCTATCACCATAACAATCCACTTCCACAGGGAGTGTTATCCAGAAAGAGAGGAAGGACAAACCTGCAAATGCAGCCTTCACTCCACCTCCAGAGATGGTCCTGGAGATTCTTACCTAGCGGCTCATCTTCTTGT
GCAGCCTCAATCTCCCAGGCTCAAGCCATCCCCTGACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAACTTTGGTATTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCCATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACTGTGCCCAGCCTAGGCTGACTTTCAAGCAATGCTCTAGTAAGAAACTCTACCCATAGTGATTCTGATGATTCTGTGTACGCTGCTGCGGGCTCACGCTGACTTCCTGTTGACTGAAGGTTGTCTCTCACTCTCGCTCTCTCATTCCTGAACCAGCTGGGACATCGGGGAGTGGTCTGAGTGCAGCAAGACCTGTGGCCTGGGCATGCAGCACCGCCAGGTTCTGTGCCGCCAGGTGTACGCCAACCGCAGCCTGACGGTGCAGCCCTACCGCTGCCAGCACCTGGAGAAACCTGAGACCACCAGCACCTGCCAACTCAAGATCTGCAGCGAGTGGCAGATCCGGACCGACTGGACCTCGGTACGCAGGCAGGGCAGCCCGCTCTGCAGCTCCCTCTCCAGCTCCCACCACACTTTCCAGCCTCCCCCACCAAGACCTGAGATGGGTAACCCTGAGTTCCACAGGAGGGAACCCGTCCCGTGGGGGTCTGGACGGCTGTTTTTGCAAACCACAGGATGTACCAATAGTTCAATAGAGTTCAGGGTAGTGTGTGCCACCCACAGCCAACTTTATGAGTGAGCCCAGGGGGAGCCCTCTGATACTGGCCTCATCTGCTTTGTGAGTCATGGTGAAGTGAAGGTTGGCAACTGCTGGTAGAGCCAACTCCTTCCAATTTTCCCTACCCATTTTATAGCTGAAAAGACTGAGGCCTGGAAGAATAGAGTAGTGTCAGTCAAAATTAAGGCTGTTAAGGCAGAAATAATTTGATAAAAGATTTATTGGAAGCCAATGTAAGGATCAGCCCAAGAAGACACACGAACAACGTTGGACATGTTCCAAAGTCTGTTACAAGTTGAAAGGCTTTTAGAAGAAAGTTTAGGAGAGGAGACGGGGACCCCTTGAATCGGAGTTGTCTTTTTCATTGGAGGGTACAGCACAGAGGTTGCAATCACTGGCTACAGATGACGACATACAGGCTAAAATGTTTTAAGTGCAAGACAGTCAATAAAACTTCATGAGTCAGAAATAAATCAGCAAAACTTTATGACTCAGAAACAAACCAAACAAACCAGTGTCCTCTTCAATGTCCACAGGTTACGTATTAATCAGTATGTCAACAGTTTGAAGAATTCACAATAAGATTTGAGGAACTGACAATAATATTCTTTACTCTAAACAGGATGTAAGCCATGAATCCTAAGACCTTCTTCCCAGGCAACTTAGAACATAGTTTATTCTTCAAGGGCAGAGGTGCATGACTTAACCCCTTGCCTGCCATGGCGTTGGGTCCTGTTTATAATTTGGTATCTTATTGCCACAGAGAGTCCATTCTGTCAGTCTTATGATTTCTCCCTTAACATCAGTGCTGGTCGGTTGTGTCTAGACTGCAAAACGGAGGTGGTATGACAGGGTGTGTCCAACCTTCCATCCTGTCATGGCCAGGAAATCCATTTTTAAGGTTTCTCTGGGGGTCTCCTTGGCCAAGAGGAGGCCCATTCAGTCAGCTGGGAGGCTTAGGATTTTATTTTTAGTTTACAGTAGGCGAGGCATCTAAGAAGGTCTTGTAGAAAAGGGTTGTGGAGTTTTCTAGGGCTCAGATCCCTGCCCCAGCTGGTGACATGCATGACAGAGCCTCAGTCTCATGGGGCTGATCACAAAGGCTGCGGGCTCCATACTGGCAATTCTCTCCCAGAGCTGAAGCTGCTGGTTCCCCTGACGTCAGTGTGCTGTGTTTCAGTGCTCGGTGCCCTGCGGCGTGGGACAGAGGACCCGTGATGTGAAGTGTGTGAGCAACATTGGGGATGTGGTTGACGATGAGGAATGCAACATGAAGCTCTGGCCGAATGACATTGAGAACTGCGACATGGGACCCTGTGCCAAGAGCTGGTTCCTCACCGAGTGGAGCGAAAGGGTGAGTGTGATGGCGGGCAGAGCGCCGGGGACCGAGGTCTGCCAGGTGCCTCCAAAACCACACAAAGATGAGTCACTAGCTCAGAATCCCAAGACTGATTTCTGGCTCTGGGGGGAAAAAAAAGGCCCAGAGAGGAATTATCGTAGGCTTTCTATCCTTATGTGAGGACTGAGGGTCTCCAAAGGTGAGGAGGGTGTATGCAAAACTTGATTGAATTCTCCTTAGCACTCCATGTGGTCACTCCATAATACTAGGTGAAGTGAATCATTACATCCCATCGTTCATATGTCTTGTAAGTGCCTGGTGTCTCATAGACACTCAGCAATGGCAGGCCCCTCTACTGCTTTTTGCCAACTCAAAACATCCCACACCCCGTTCCCTCCCCAGTAGCCTGGCCTCCCATGGGAAGTCTCAGGTGTCAAAGAATAACTCAAAGGCATATATAGTCAACCATTAGCCCACCAGTTACCTGGATATAAGGGAAAACAGTCATATATTAAATTCATCCATCAAAGGCAAAAGGAGGATTTATATGAAAAGGGGTTTCTGCAGATGGAGTGATGTTGGTTACACAACAGCATGAATGCACCTAATGCCCTGGAGGTGTGGGCTTAAAAGTGGTTACGATGGTCAATTTCATGCTATGTGTATTCTACCACAATCAAAAATGAAGTTTGAGAAAAGACACTAAACAAATTGTAGAACATACCTTGGGACAGGGAGAAGAAAAGAGGAAGGAGATAAGGAATTGTGCTTCCTTTCCTGGTGGGATCGGCGCATTGGCGGGCATGGGATGGCCAGTCAGAGGGTTTGCCCAGGGCAGCTGCACAGCTGTGAGAGGCACCAAGTCCAGATTCTGGATTCTCTAGGAGATCTAGGGAGTTTACCTGGGATGAGGACATGATTGGCTATCTCTGACCTTGGTTAGCGGCCTACCTCTCGGATACACTAGTTCTGCCCCACTTCCCTTGCTAGAATCCCGTGCGTACACGTTACCTGTGAACCGCATTAAAGTGTAGGTCTGAGGCAGCAGGTGTGGGGAGGAGCCAGGGATTCTACATTTATTTTCTTTCTTTTTTTTAATATTTTTATATTTTTAAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTGAGACCGGGTCTCATTCTATTGCCCGGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCGACCTGCTGGGATCAAGCAATCCTCCTGCCTCAGCACCCCCTGCCCCCCTCCCGCCAACGTAGGTGGGACTATAGGTGCGCGCCACCACCCCGGCTAATTTTTTGTATTTGTTTGTGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCACCTCGGCCTCCCGAAGCCCTGGAATTGTAGGCATGAGCCACTGTGCCTGGCCACAGCCTACATTTCTAATAGGTTCCCAGGGTCTCTGAGGCCACTGGTCCAAGGACCACACTCTGAATAACAAGGCCATAAAAAAGACAGAGGAGCCCAGCCATGTTCTTGGATCTTAGGAGACACGATGCAGCCCATGAGCCCCCACCCCGTCCCCACTCCCAGCATCATGAGAACAACAACCATAGTATCTCAGACTCAAAGAAGGACCCTTTCACGCAGTTTGGGGATATCAGCAGACATGCCCCATACGGCCACATTGGCTGACTCCAACTGGTCAGTGTCCATTCTGACCGGTCAATGGCCACCATGCACCTGTTATTGAGTATTTTGAATATCACCCCTAGAGGTGTTCACATAGGTTTTCTCTCCCTCTGCGGTGTAAGATGCCCCTTCATTTTGTCCCTCTATCACCATAACAATCCACTTCCACAGGGAGTGTTATCCAGAAAGAGAGGAAGGACAAACCTGCAAATGCAGCCTTCACTCCACCTCCAGAGATGGTCCTGGAGATTCTTACCTAGCGGCTCATCTTCTTGT
Task1_train_21651
A mutation in NR2E3 (nuclear receptor subfamily 2 group E member 3), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Retinal dystrophy
GGTGGGAAGGATGGACCTGGGAGCAGCGCAGGGGGCTGGTGTGGCAAGAGGCAGGCGGAGCTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCA
GGTGGGAAGGATGGACCTGGGAGCAGCGCAGGGGGCTGGTGTGGCAAGAGGCAGGCGGAGCTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCCGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCA
Task1_train_21652
Here is a genetic alteration in NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Retinitis pigmentosa
CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGT
CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTATGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGT
Task1_train_21653
This variant affects the gene NR2E3 (nuclear receptor subfamily 2 group E member 3) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Retinal dystrophy
CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGT
CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTATGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGT
Task1_train_21654
A genetic alteration is present in NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Enhanced S-cone syndrome
CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGT
CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTATGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGT
Task1_train_21655
The gene NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Retinitis pigmentosa 37
GCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGG
GCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGTGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGG
Task1_train_21656
Here is a variant affecting NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Enhanced S-cone syndrome
GCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGG
GCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGTGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGG
Task1_train_21657
With a mutation on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Retinal dystrophy
GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAG
GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCACAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAG
Task1_train_21658
With a mutation on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Retinitis pigmentosa
GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAG
GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCACAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAG
Task1_train_21659
Here is a variant affecting NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Enhanced S-cone syndrome
GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAG
GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCACAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAG
Task1_train_21660
Consider a variant on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3). Determine its clinical classification and disease relevance.
Pathogenic; Enhanced S-cone syndrome
GTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCC
GTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCTGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCC
Task1_train_21661
This sequence change occurs on Chromosome 15, altering NR2E3 (nuclear receptor subfamily 2 group E member 3). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Retinal dystrophy
TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCT
TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCAGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCT
Task1_train_21662
Given this variant in gene NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Enhanced S-cone syndrome
TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCT
TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCAGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCT
Task1_train_21663
This alteration occurs within gene NR2E3 (nuclear receptor subfamily 2 group E member 3) located on Chromosome 15. Is it associated with a disease or is it a benign variant?
Pathogenic; Retinitis pigmentosa 37
TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCT
TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCAGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCT
Task1_train_21664
The following genetic variant occurs in NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Retinitis pigmentosa
CTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACA
CTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCGAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACA
Task1_train_21665
The gene NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Retinal dystrophy
CTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACA
CTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGTAAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGCCGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGGGGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGATGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGGCGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATGGGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGGAGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTTCTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGACTGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCGAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACA
Task1_train_21666
A variant on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Enhanced S-cone syndrome
GACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACT
GACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTGGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACT
Task1_train_21667
A genetic alteration is present in NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Retinitis pigmentosa
GACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACT
GACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTGGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACT
Task1_train_21668
The gene NR2E3 (nuclear receptor subfamily 2 group E member 3), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
TATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAG
TATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGAACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAG
Task1_train_21669
This variant affects the gene NR2E3 (nuclear receptor subfamily 2 group E member 3) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Retinitis pigmentosa
GTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAA
GTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCCTGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCACGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAA
Task1_train_21670
With a mutation on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Retinitis pigmentosa
CATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTACCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACCCTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGACCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAAACATTCTTTAACTGACTTTATAGTTATTTCTTCTTCCTCCCACTCTAATTTAGATCAGAAAAACAGAAGCAGGGAAGGCAGATGGGAGGGGTATACGACTTGCTCAGTGCTGCTCACTTGGCACTAGCAAGAGAAAGGAAGGCCTTAGGTTGGCAAAGCAAGTCCAGCAGATCACTGAGTGGTGGGGAAGTCTTCCCCGAAATTCACGGTGAG
CATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTGGGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACACATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACCTCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATCTCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTACAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGGTAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGCACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATCCCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGGAGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGCCACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCAACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGTGTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGGCTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGAGATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACCCCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTCTGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGTAGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGGCCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGCCCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCAGGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCGTAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCACGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCCCTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGCACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCAGGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAACCGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAATCTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTGTGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAGGGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAGGTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTTCAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTGCAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCATGGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCCATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAAATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGAGAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGATGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGCCCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCAGGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTCAGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTGCAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTGCATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAGCCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATAGGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACATTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTCCTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTACCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACCCTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGACCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAAACATTCTTTAACTGACTTTATAGTTATTTCTTCTTCCTCCCACTCTAATTTAGATCAGAAAAACAGAAGCAGGGAAGGCAGATGGGAGGGGTATACGACTTGCTCAGTGCTGCTCACTTGGCACTAGCAAGAGAAAGGAAGGCCTTAGGTTGGCAAAGCAAGTCCAGCAGATCACTGAGTGGTGGGGAAGTCTTCCCCGAAATTCACGGTGAG
Task1_train_21671
The gene NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
GAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTACCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACCCTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGACCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAAACATTCTTTAACTGACTTTATAGTTATTTCTTCTTCCTCCCACTCTAATTTAGATCAGAAAAACAGAAGCAGGGAAGGCAGATGGGAGGGGTATACGACTTGCTCAGTGCTGCTCACTTGGCACTAGCAAGAGAAAGGAAGGCCTTAGGTTGGCAAAGCAAGTCCAGCAGATCACTGAGTGGTGGGGAAGTCTTCCCCGAAATTCACGGTGAGAGGAGCATGGGACTGCCCAATGTGGAGTAGCCTCCTTGATGCTGGGTGTTGACCCTGGCCATCAGACCTACCCAGGGAAGGTTTAGTTCCCCCATCTGTCTCTTGGGGCTTCACCATCCGTCTTTTGTGTTGCGGACTCCTGTCTTAGCAAATACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTCTGTCACCCAGGCTGGAGCGCAGTGGCGTGATCTCGGTTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGTTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCTCAGCCAGCAAATAGTTCTTATTTAAAACAATAAATATTTTTTTCAATGACTATCTCAGTCACCAAAATTATCCTTCAACTTCAGGACATTTTCAGTAATGGCTATCATCATCCTAGGTGGTATACAGACAGGAATTTGTATTCTTACAAACAATTCTTATCTACTAAAAACTAATCATATAATTATAATACTTATATATGAGATTAATAATAATATTTTCATATACAGGTGCTCCTTGACTTATGATGGGGTTACATCTGGATAAACCCATTGTTAAGTTGAAGCTACTGTAAGTTGAAGATGAATTTTCATACATAACCCATCTTAAGTCAAGGAGCATACTGAATGCTTATCACTTTCACACCATGATAAAGTCGAACCATCTGTATAGAGTTAATATAAACTTCACTTTATAATCTTTACATATAATAAACAATATTTACTCATTATTTTCATTGCACTCCTAAACTAAATAGAGGGTGGCGGCTCACAATGGGTCGAGGTAGGTGGAGGCAACTCCTCTGGTTAATGCGGCTTTTCTTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTAGCCGAGGCTGGAGTGCAGTAGCGGGATCTCGGCTCACTGTAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACGCCTGGCCTGAATGTGGCTTTTCCTCGAAATTCCTCCTGACCCACTCTGGGGACCTCATCTCTCCTCTCCTTCCTCCCCTCCCTTTCCTGGGAGGGCACCGCCCCAGGGACTAGTGCTCAGAAGCTGGTCGTAAAACTGATGGCGTCCTCTCTCCTGTTCAGGTTTGGGAAATTGCTCCTGCTCCTCCCGTCTTTGAGGTTTATCACTGCGGAACGCATCGAGCTCCTCTTTTTCCGCAAGACCATAGGGAATACTCCAATGGAGAAGCTCCTTTGTGATATGTTCAAAAACTAGTGGGGGTGGAGGTGAAATGTTTCCAAGCACTCTGGAAAACAATCTACTGAAACGAAACATTTGCCTACTCTTTGCCCCAGCAATTCCTCGTAGGTGTGTGTACCCAGCAGAAATGCCCACCGAAAGATATTGTAAGAATATTCATAGCAGCTTTATTCATAATAGCCCCAAACTGTATATTGATGGTAGGATGAATTAACAAGTTGTGGTATATTCATATAATGAAAAATAATTTAAAAAGAATGAATTACGGATACATGTGGCAACACAGGTAAACTTCACAGACATAAAAGTTGAATGAAAGAAGCCAGGCCGAAGTTCCATTTATGCAGAGTTCAGGAACAGGCAAGACTAATTGACAATAATAGAAGTTGGAATAGTGGTTACTTCTGGGTGGTGGGGGATTGATACAGAGGGGGCTCATGGGAGCCCTCTGGTGTACCAGAAATGTTGATTTTGATCTGGGCAGTGGTTTCACAAATGTATTCATACGTAATAATTCATTGAGCTGTGCACTTTATTTTGTTAGACCTCAATAAAAAAGTAAAAAAAAAAAACAAAAAAAACCAGAAAAATGAGTGTGGTCAAGGCTCTCCCTTTGGGGACACTGAAGGAATGAGCGCAAGGTCTTTGAGTTCCATCTGGGTTCCACTCCAAGTCAGAGACCAGGCGCAATGAATTCAAGCCCAGTGGAAAATCTCCCATAGAATTCAACCACCCAGCTTCTCTCCAGATGGCATCCCATCATCCGCAGCATCTCTCAACCTTTATCTCCTATCTCCTGCCTCATCTCCTTCCTAAGTAAAGAACACCTTCCAACTCAACATAAGGCAGCTACAGGTACGTTTTGTGAAAGGGACTCTTCATCACTTCTCAGGTCCTTATGGAAAGATACAGCTCAGACAAACTTCATCATTTTCTTTTTCTCTTTTTTCTTTTTTTGAGACTGAGTTTTGCTCTTGTTGCACAGGTTGGAGTGCAATGGCGCAATCTTGGCTCACGACAACCTCCGCCTCCCGGGTATAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGAGATTACAGGTATGCACCACCATACCCAGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTAGAGCTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCTAATCCTTTTTGAAGATAGACCCAGATGACTGTGAAAATAATATTTTAACATGTTAACATAGATCAGGCAATGTATATATTAATAGCAGGCAGTGAGCCGGGCACTTTTTAAATTGCCATTTAATCCGCAGATTAACTCTGAGGGAAGAGCCAATTTTCTCCATTTATAAGTGAAAAAACTGATGCTTAGAGAGGACTCAAACCTTGGTGTGACTCTACCTAATGCTGCTTAACTTTGGCACCGCCTCTTTCCCAACTTCCCCTTCACTTTTGGAATGAAAGACTGAACAATTCTGTTGCATTTTCTGCCTTCAAAGGATAAGTGTTTGAAATCAAGACAGAAAGGGTCATGTGAGAAGGCTGAGAAATCCTAGGGGTTCCCTGTCCTTTGGCTTGTGTTTGAATTCCCTTAGCTGACAGAAATGCCCTATCTACTCAGGAACTCAGAACCGCTAGGGCTGGTGCCAGAGAGGAAAGAGTATGGCAAATGCTGCCCAGCTGAAGCCCTTCTTACTTCAGCCCCTAGGCTACTTCAGATTCTCTCCAACTTTTCAAAGTATCAGAGTGGCCTCAGTTAATCGGTCAACTAATGTCTATAATGCCATTATACAGTCCAATTCCCTATCAAAAGTTTTATCCATATGAGCTAAGCCCTGAGCAAAGCCACCTTAGTAAGACACATGGTTGAAATATGACATGACCAGCCCTGCGTATGTATCTTACAGTTTGGCTTTGGAGGACATGGTAAGACTGCAAAGGTAGCCTGCTGAAGTTCACAGGCTAGCATCTGGGATGTGTGAGCCCAGCACATCTACATTGG
GAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTACCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACCCTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGACCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAAACATTCTTTAACTGACTTTATAGTTATTTCTTCTTCCTCCCACTCTAATTTAGATCAGAAAAACAGAAGCAGGGAAGGCAGATGGGAGGGGTATACGACTTGCTCAGTGCTGCTCACTTGGCACTAGCAAGAGAAAGGAAGGCCTTAGGTTGGCAAAGCAAGTCCAGCAGATCACTGAGTGGTGGGGAAGTCTTCCCCGAAATTCACGGTGAGAGGAGCATGGGACTGCCCAATGTGGAGTAGCCTCCTTGATGCTGGGTGTTGACCCTGGCCATCAGACCTACCCAGGGAAGGTTTAGTTCCCCCATCTGTCTCTTGGGGCTTCACCATCCGTCTTTTGTGTTGCGGACTCCTGTCTTAGCAAATACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTCTGTCACCCAGGCTGGAGCGCAGTGGCGTGATCTCGGTTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGTTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCTCAGCCAGCAAATAGTTCTTATTTAAAACAATAAATATTTTTTTCAATGACTATCTCAGTCACCAAAATTATCCTTCAACTTCAGGACATTTTCAGTAATGGCTATCATCATCCTAGGTGGTATACAGACAGGAATTTGTATTCTTACAAACAATTCTTATCTACTAAAAACTAATCATATAATTATAATACTTATATATGAGATTAATAATAATATTTTCATATACAGGTGCTCCTTGACTTATGATGGGGTTACATCTGGATAAACCCATTGTTAAGTTGAAGCTACTGTAAGTTGAAGATGAATTTTCATACATAACCCATCTTAAGTCAAGGAGCATACTGAATGCTTATCACTTTCACACCATGATAAAGTCGAACCATCTGTATAGAGTTAATATAAACTTCACTTTATAATCTTTACATATAATAAACAATATTTACTCATTATTTTCATTGCACTCCTAAACTAAATAGAGGGTGGCGGCTCACAATGGGTCGAGGTAGGTGGAGGCAACTCCTCTGGTTAATGCGGCTTTTCTTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTAGCCGAGGCTGGAGTGCAGTAGCGGGATCTCGGCTCACTGTAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACGCCTGGCCTGAATGTGGCTTTTCCTCGAAATTCCTCCTGACCCACTCTGGGGACCTCATCTCTCCTCTCCTTCCTCCCCTCCCTTTCCTGGGAGGGCACCGCCCCAGGGACTAGTGCTCAGAAGCTGGTCGTAAAACTGATGGCGTCCTCTCTCCTGTTCAGGTTTGGGAAATTGCTCCTGCTCCTCCCGTCTTTGAGGTTTATCACTGCGGAACGCATCGAGCTCCTCTTTTTCCGCAAGACCATAGGGAATACTCCAATGGAGAAGCTCCTTTGTGGTATGTTCAAAAACTAGTGGGGGTGGAGGTGAAATGTTTCCAAGCACTCTGGAAAACAATCTACTGAAACGAAACATTTGCCTACTCTTTGCCCCAGCAATTCCTCGTAGGTGTGTGTACCCAGCAGAAATGCCCACCGAAAGATATTGTAAGAATATTCATAGCAGCTTTATTCATAATAGCCCCAAACTGTATATTGATGGTAGGATGAATTAACAAGTTGTGGTATATTCATATAATGAAAAATAATTTAAAAAGAATGAATTACGGATACATGTGGCAACACAGGTAAACTTCACAGACATAAAAGTTGAATGAAAGAAGCCAGGCCGAAGTTCCATTTATGCAGAGTTCAGGAACAGGCAAGACTAATTGACAATAATAGAAGTTGGAATAGTGGTTACTTCTGGGTGGTGGGGGATTGATACAGAGGGGGCTCATGGGAGCCCTCTGGTGTACCAGAAATGTTGATTTTGATCTGGGCAGTGGTTTCACAAATGTATTCATACGTAATAATTCATTGAGCTGTGCACTTTATTTTGTTAGACCTCAATAAAAAAGTAAAAAAAAAAAACAAAAAAAACCAGAAAAATGAGTGTGGTCAAGGCTCTCCCTTTGGGGACACTGAAGGAATGAGCGCAAGGTCTTTGAGTTCCATCTGGGTTCCACTCCAAGTCAGAGACCAGGCGCAATGAATTCAAGCCCAGTGGAAAATCTCCCATAGAATTCAACCACCCAGCTTCTCTCCAGATGGCATCCCATCATCCGCAGCATCTCTCAACCTTTATCTCCTATCTCCTGCCTCATCTCCTTCCTAAGTAAAGAACACCTTCCAACTCAACATAAGGCAGCTACAGGTACGTTTTGTGAAAGGGACTCTTCATCACTTCTCAGGTCCTTATGGAAAGATACAGCTCAGACAAACTTCATCATTTTCTTTTTCTCTTTTTTCTTTTTTTGAGACTGAGTTTTGCTCTTGTTGCACAGGTTGGAGTGCAATGGCGCAATCTTGGCTCACGACAACCTCCGCCTCCCGGGTATAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGAGATTACAGGTATGCACCACCATACCCAGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTAGAGCTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCTAATCCTTTTTGAAGATAGACCCAGATGACTGTGAAAATAATATTTTAACATGTTAACATAGATCAGGCAATGTATATATTAATAGCAGGCAGTGAGCCGGGCACTTTTTAAATTGCCATTTAATCCGCAGATTAACTCTGAGGGAAGAGCCAATTTTCTCCATTTATAAGTGAAAAAACTGATGCTTAGAGAGGACTCAAACCTTGGTGTGACTCTACCTAATGCTGCTTAACTTTGGCACCGCCTCTTTCCCAACTTCCCCTTCACTTTTGGAATGAAAGACTGAACAATTCTGTTGCATTTTCTGCCTTCAAAGGATAAGTGTTTGAAATCAAGACAGAAAGGGTCATGTGAGAAGGCTGAGAAATCCTAGGGGTTCCCTGTCCTTTGGCTTGTGTTTGAATTCCCTTAGCTGACAGAAATGCCCTATCTACTCAGGAACTCAGAACCGCTAGGGCTGGTGCCAGAGAGGAAAGAGTATGGCAAATGCTGCCCAGCTGAAGCCCTTCTTACTTCAGCCCCTAGGCTACTTCAGATTCTCTCCAACTTTTCAAAGTATCAGAGTGGCCTCAGTTAATCGGTCAACTAATGTCTATAATGCCATTATACAGTCCAATTCCCTATCAAAAGTTTTATCCATATGAGCTAAGCCCTGAGCAAAGCCACCTTAGTAAGACACATGGTTGAAATATGACATGACCAGCCCTGCGTATGTATCTTACAGTTTGGCTTTGGAGGACATGGTAAGACTGCAAAGGTAGCCTGCTGAAGTTCACAGGCTAGCATCTGGGATGTGTGAGCCCAGCACATCTACATTGG
Task1_train_21672
Given a variant located on Chromosome 15 and affecting MYO9A (myosin IXA), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; MYO9A-related disorder
TACAGTTCGGCTCAGGTTAATGACTCATTTATCTAATCAGGGGACTTGTTTTGCATTTTTCTCTTTTTGTTGTTGTTGTTTTTGCCTTCATAAAACATCACTTTTGTCACTTAAAAACTGGGTCTACCTCCAACAAAAGATAAAAGACAACGAGAGTATTCTGGACAATAGGAGAAATTTCAATTAATTAGATCTTTGACAATTCAAACAGCTTAAAACAGTTCAAAGATAGAATATTTAATGAGTCAAATAAAGACCATTCTAAAATTTTTCTCTGATAATTGACAGACACTAAAGAATATTAGAGAGCTCAGTTACAGATATGTATGGAAATAAAATGTTATTTCACTCTACTTCATCAGTGATGTTCTGGTTCATATTAGACATACGGTCTTTATCTTATATATTTCTAGGACAATTCCAAAATAAAATTCTTTGCATTAATATACCCATCAATATACTATAATACTTGTCAAACCACATATACACCTGATTTGGGCTGAGAAGATGATATAGTTATATTCTTAGCTTAAAATGGTGCAGCTTTATTCAAACACAACACCAATGTTATATTGTGTGATTAATACAAATTCACATTACATATAGCCTTCTATTTGGCTGGGTTGGTCCAGGAAGACACTTTTTGCTCACTATATGTTTTAAAATTCATGTTTATTTCTTATTAGTGGAAAGTGAGGTGGAGGAAGAAAGTTTACAGGCAAAAAATGTAAAAGTGCATTGTAGCTAAAAGCTACTGGATTATTTTAGACCAAGGATCAGTAAACTAAACCACGGATCAGTAAACTATGGCCAACAGGTCAAATACAATCCACTGTCTGTTTTTGCAGTTTTATTACAAGACGGTCATGCCCATTTGTTTACTTAGTGTCTATGGCTGCTTTCACACTACAGTGGGTGAGTTAAGTAGTTAAGTTAGGTAGTTGCAATAGAGACTATATGACCCACAAAGTCTAAAATATTTGTTATCTGGCCGTTTACAGAAAAAATGTAAGGACCACTGCTCTAGACCTTTTAGGATACAACATGGAAAATTTCTACATTAGTGCCAAGTCAAATAATCTTAATTTTGCCTAATTTGTGGCTTTTTAAAGTGCCCTTTATTTGAGTTCTATTAAATTAAGGTTTAGCTTAGTTGCTGTGTTCACTGAGGTTTCCCATGCACAAACCATTACATGGGAAGAAGCTGTGAAGGTTAGCTTTAGATTAGCAAAGACTATTTCCATCAGATTTGCTTGCTATTTTTCTTATATTGCTGTAAAATTACCATTTCGGAGTCACTGTGAGAGGCCTGACCCAGGCTGGGTGCAGGCCCTAGCTCACAGTGAGAAGCTTGGTCAAGGGAGAGAAGGGGCTCAATAATGTCATCGTAATCATCTTCCTCTGTATCCCCCTCCCCATCGGCAAAAGTACCTCTAGTCAAGAAATCGGAGCGCGTCCGCGCCATTCGAGCTTTCTTTTTATGGGCCGGTCTGGCAACCTGCTTGACCAAATGATAAAACAAATAACACAACAATGTTTGGGGTTTTTGTTCTTTTTGAGATGATGCCAATGAAAGACATCAGAGGGCTCATGAATTTCTTGAAATATCCCTCCACCCAACCATGCCCTTTCCACTAGCAGAAGTGACAGGGATGACCAAAAGGAATCTGTATACATTACTCTGGATGAAGGACTAGAATGGAAGCTAAATCTACACTGTTCTACATAGCCAAAGAAGTCATCTTTCACTGCCATAGTAAGTCAACAAAGTCTCTTGCACAAATTGCCTTCTTTTTCTTAGCAACTGGGTTTTTAGGCACCATTCCCTGCCTGGAGTACACCTTCATAATTATAACAATCTCCGCTCATGGCTTCTTTCTCTAAAAACACTTGGGAGTAAATGGGTAGATGAGGTGCTCTACCTACAAGAATAATAATTTCCAAAATAATGTACATCTCTTTTGTATAGAAGATAGATAAACAAAAACTCAAAACTTACCTCTCTTTGGCCTGGCCCAGCTAACTTCACAGGTTTCCATGCTGGTTCATCTTCTTTATGGAGTTGAGGATTTTTACTGTTTAAGGCTTCTTTGCTGACACTTTAAATAAAACAATGAAATTACATTTCAGTTCTTAGCAGATATCCCATGGCAGCCAGGTTAAAGACTTCCAGCAAATTCCATAAATATTTTCAGATCTTAGTCAATTCCCAAGACAATTAAGTCATATTTTTTCTGCTTAGCTAATTAGTAATAATAATCCTGAACCTACGCATAAGACTGAATTACTAAAGGCCTTGTCCTGATGATCAGTGGGTATATTCCACTATGAATATGACATATGTTTAAGAATAGTAGCTGCAAAATAAACTCAAGAAATAAAATAGATCTGATGATGGGGAAAGGAAAATACCAAACCCCTGAATCTTTAGAATACTAGTCTTACAAGGGGCCTTTCCATCTAATCATTATAAAATACCTGAAAAATAGCCATCCAGGGATGAGGATCTCATTATATTTTATACTGAGATGGTTCTTATTGGTTAGAAAACTCCTTCTGAAATCTCTCTTTGTAGTTTTCATCCACTGTCTTTGAGTTTTAAAACTTGACGTTGAGGCTGGGTGCAGTGGCTCATGCCTGTAAACCCAGCAGTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCGTGGTCAACATGGCAAAACTCCGTCTCTACCAAAAATATAAAAATTAGCTGGGTGTGGTGGCAGGTGGCTGTAGTCCCAGGTACTTGGAAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACACTCTAGCTTGGGTGACAAGAGTGAAACTGTCTCAAAAAAACCAAAAAACAAACAAACAAAAAGCTTGATGTTGAATAGCCTAAAATCAACACTGGCAGGGTAAGAAATTGTTATCAAACTAAAAGTATGCTCCAGACAATACAGGTGTTACAGTGTTAGCTTATGAAAATTTAATTTTGATTGAAAAACTGTATGATGAGAATGCTTTATCATTAAATTCTGGGCAGAAATAGATGCCAGAATCTGATGAAAAAGTGTATATAACCTTCATGGCCCCAATTACCTATATTAACTCAGTACCATGAGTCTCATCAACAACATATTGATAATCTCTCCTGAGCAGAACTGTAAGCTCCTTGAGAATCATATCTTACTTCCAAGGATAGTGCTAGCTAAAATTAGACACTAACTTATGATACTAGTTGGTAGATTAATTGTTCTTCCATTCAAAATCTTTCATTTAATTTTTATAAAAGTAAGTCTAGGAGCCATAAGAAATTATCTTGCCCTTTGCCTCTATGCAATAAGCCCGAAACAAACACAAATAGATGCAATCTTTGCTAGCTATAGGCTTCTTAGAGATCTCCCTTTTTGAGCAATGTATGTACAATGTGTATAAGCCTAGCAATCCTAGCTTGTTCTAAAGGATTCTCTTCTGGCTATCAAAATCTCTCTTGCCACAGTTGAGCCTATTGGACCTTCATTTATCCTCCAAAGAGAAACAACAATTAATAGGATCTTGATAGTACTTGACCACTGCAATTAACCTTTTAACTCACAACATTTTCTTTAGACTTCACCATGAATTCTTTTTGTCCTTTCTCATTAAACAGTTAAAAACTACTGTGTACTCATCACCACTACAGTACAAAAGGGACACTAACCTAGTATTACTTTCTAATTATAAAACCCAATGCCGATCCTTAATGATGAAATGCAAGTTCTAGTCCCAGCCATTTCTCTAAATACATGATCTTGAATAAGTCATTTCACCTCTATGGGCCCCAGTGACCTTATCTGTAACATGTGGGAACTGGATTACATAATTCAGAAGCACCAGCATTTATGATTCTACAAAATGTTAATGTTTCTAATATTACTTATACAACAGGATGAGATTTAAAGTATGAATTTTATCTGTAGAGTTTAATATAATCTAATATATAATAATTTTAAAGATAAGTAGATCATTAATAAAGCAATAAAAGAAATCAACTCAAATACACCTACA
TACAGTTCGGCTCAGGTTAATGACTCATTTATCTAATCAGGGGACTTGTTTTGCATTTTTCTCTTTTTGTTGTTGTTGTTTTTGCCTTCATAAAACATCACTTTTGTCACTTAAAAACTGGGTCTACCTCCAACAAAAGATAAAAGACAACGAGAGTATTCTGGACAATAGGAGAAATTTCAATTAATTAGATCTTTGACAATTCAAACAGCTTAAAACAGTTCAAAGATAGAATATTTAATGAGTCAAATAAAGACCATTCTAAAATTTTTCTCTGATAATTGACAGACACTAAAGAATATTAGAGAGCTCAGTTACAGATATGTATGGAAATAAAATGTTATTTCACTCTACTTCATCAGTGATGTTCTGGTTCATATTAGACATACGGTCTTTATCTTATATATTTCTAGGACAATTCCAAAATAAAATTCTTTGCATTAATATACCCATCAATATACTATAATACTTGTCAAACCACATATACACCTGATTTGGGCTGAGAAGATGATATAGTTATATTCTTAGCTTAAAATGGTGCAGCTTTATTCAAACACAACACCAATGTTATATTGTGTGATTAATACAAATTCACATTACATATAGCCTTCTATTTGGCTGGGTTGGTCCAGGAAGACACTTTTTGCTCACTATATGTTTTAAAATTCATGTTTATTTCTTATTAGTGGAAAGTGAGGTGGAGGAAGAAAGTTTACAGGCAAAAAATGTAAAAGTGCATTGTAGCTAAAAGCTACTGGATTATTTTAGACCAAGGATCAGTAAACTAAACCACGGATCAGTAAACTATGGCCAACAGGTCAAATACAATCCACTGTCTGTTTTTGCAGTTTTATTACAAGACGGTCATGCCCATTTGTTTACTTAGTGTCTATGGCTGCTTTCACACTACAGTGGGTGAGTTAAGTAGTTAAGTTAGGTAGTTGCAATAGAGACTATATGACCCACAAAGTCTAAAATATTTGTTATCTGGCCGTTTACAGAAAAAATGTAAGGACCACTGCTCTAGACCTTTTAGGATACAACATGGAAAATTTCTACATTAGTGCCAAGTCAAATAATCTTAATTTTGCCTAATTTGTGGCTTTTTAAAGTGCCCTTTATTTGAGTTCTATTAAATTAAGGTTTAGCTTAGTTGCTGTGTTCACTGAGGTTTCCCATGCACAAACCATTACATGGGAAGAAGCTGTGAAGGTTAGCTTTAGATTAGCAAAGACTATTTCCATCAGATTTGCTTGCTATTTTTCTTATATTGCTGTAAAATTACCATTTCGGAGTCACTGTGAGAGGCCTGACCCAGGCTGGGTGCAGGCCCTAGCTCACAGTGAGAAGCTTGGTCAAGGGAGAGAAGGGGCTCAATAATGTCATCGTAATCATCTTCCTCTGTATCCCCCTCCCCATCGGCAAAAGTACCTCTAGTCAAGAAATCGGAGCGCGTCCGCGCCATTCGAGCTTTCTTTTTATGGGCCGGTCTGGCAACCTGCTTGACCAAATGATAAAACAAATAACACAACAATGTTTGGGGTTTTTGTTCTTTTTGAGATGATGCCAATGAAAGACATCAGAGGGCTCATGAATTTCTTGAAATATCCCTCCACCCAACCATGCCCTTTCCACTAGCAGAAGTGACAGGGATGACCAAAAGGAATCTGTATACATTACTCTGGATGAAGGACTAGAATGGAAGCTAAATCTACACTGTTCTACATAGCCAAAGAAGTCATCTTTCACTGCCATAGTAAGTCAACAAAGTCTCTTGCACAAATTGCCTTCTTTTTCTTAGCAACTGGGTTTTTAGGCACCATTCCCTGCCTGGAGTACACCTTCATAATTATAACAATCTCCGCTCATGGCTTCTTTCTCTAAAAACACTTGGGAGTAAATGGGTAGATGAGGTGCTCTACCTACAAGAATAATAATTTCCAAAATAATGTACATCTCTTTTGTATAGAAGATAGATAAACAAAAACTCAAAACTTACCTCTCTTTGGCCTGGCCCAGCTAACTTCACAGGTTTCCATGCTGGTTCACCTTCTTTATGGAGTTGAGGATTTTTACTGTTTAAGGCTTCTTTGCTGACACTTTAAATAAAACAATGAAATTACATTTCAGTTCTTAGCAGATATCCCATGGCAGCCAGGTTAAAGACTTCCAGCAAATTCCATAAATATTTTCAGATCTTAGTCAATTCCCAAGACAATTAAGTCATATTTTTTCTGCTTAGCTAATTAGTAATAATAATCCTGAACCTACGCATAAGACTGAATTACTAAAGGCCTTGTCCTGATGATCAGTGGGTATATTCCACTATGAATATGACATATGTTTAAGAATAGTAGCTGCAAAATAAACTCAAGAAATAAAATAGATCTGATGATGGGGAAAGGAAAATACCAAACCCCTGAATCTTTAGAATACTAGTCTTACAAGGGGCCTTTCCATCTAATCATTATAAAATACCTGAAAAATAGCCATCCAGGGATGAGGATCTCATTATATTTTATACTGAGATGGTTCTTATTGGTTAGAAAACTCCTTCTGAAATCTCTCTTTGTAGTTTTCATCCACTGTCTTTGAGTTTTAAAACTTGACGTTGAGGCTGGGTGCAGTGGCTCATGCCTGTAAACCCAGCAGTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCGTGGTCAACATGGCAAAACTCCGTCTCTACCAAAAATATAAAAATTAGCTGGGTGTGGTGGCAGGTGGCTGTAGTCCCAGGTACTTGGAAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACACTCTAGCTTGGGTGACAAGAGTGAAACTGTCTCAAAAAAACCAAAAAACAAACAAACAAAAAGCTTGATGTTGAATAGCCTAAAATCAACACTGGCAGGGTAAGAAATTGTTATCAAACTAAAAGTATGCTCCAGACAATACAGGTGTTACAGTGTTAGCTTATGAAAATTTAATTTTGATTGAAAAACTGTATGATGAGAATGCTTTATCATTAAATTCTGGGCAGAAATAGATGCCAGAATCTGATGAAAAAGTGTATATAACCTTCATGGCCCCAATTACCTATATTAACTCAGTACCATGAGTCTCATCAACAACATATTGATAATCTCTCCTGAGCAGAACTGTAAGCTCCTTGAGAATCATATCTTACTTCCAAGGATAGTGCTAGCTAAAATTAGACACTAACTTATGATACTAGTTGGTAGATTAATTGTTCTTCCATTCAAAATCTTTCATTTAATTTTTATAAAAGTAAGTCTAGGAGCCATAAGAAATTATCTTGCCCTTTGCCTCTATGCAATAAGCCCGAAACAAACACAAATAGATGCAATCTTTGCTAGCTATAGGCTTCTTAGAGATCTCCCTTTTTGAGCAATGTATGTACAATGTGTATAAGCCTAGCAATCCTAGCTTGTTCTAAAGGATTCTCTTCTGGCTATCAAAATCTCTCTTGCCACAGTTGAGCCTATTGGACCTTCATTTATCCTCCAAAGAGAAACAACAATTAATAGGATCTTGATAGTACTTGACCACTGCAATTAACCTTTTAACTCACAACATTTTCTTTAGACTTCACCATGAATTCTTTTTGTCCTTTCTCATTAAACAGTTAAAAACTACTGTGTACTCATCACCACTACAGTACAAAAGGGACACTAACCTAGTATTACTTTCTAATTATAAAACCCAATGCCGATCCTTAATGATGAAATGCAAGTTCTAGTCCCAGCCATTTCTCTAAATACATGATCTTGAATAAGTCATTTCACCTCTATGGGCCCCAGTGACCTTATCTGTAACATGTGGGAACTGGATTACATAATTCAGAAGCACCAGCATTTATGATTCTACAAAATGTTAATGTTTCTAATATTACTTATACAACAGGATGAGATTTAAAGTATGAATTTTATCTGTAGAGTTTAATATAATCTAATATATAATAATTTTAAAGATAAGTAGATCATTAATAAAGCAATAAAAGAAATCAACTCAAATACACCTACA
Task1_train_21673
A sequence alteration has been identified in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is it disease-inducing or harmless?
Pathogenic; Tay-Sachs disease
CACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGACACTGACTCCAGCCTGGCTGTGCCCTTACCCTAACGCCATTCACACTTTTTTTTTTAAACACAGGTAATCCATGTTTATTATAGAAAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAGCACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGCAGTGGAAGCCTGGCTCCACTACCATTCACCTACAGCCAGCACCCTCCTCGGTGCCTGGGGCTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACACCTCGCCTGCAAGAGGACATGAAGAAATGGCAAGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTG
CACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGACACTGACTCCAGCCTGGCTGTGCCCTTACCCTAACGCCATTCACACTTTTTTTTTTAAACACAGGTAATCCATGTTTATTATAGAAAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAGCACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGCAGTGGAAGCCTGGCTCCACTACCATTCACCTACAGCCAGCACCCTCCTCGGTGCCTGGGGCTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACACCTCGCCTGCAAGAGGACATGAAGAAATGGCAAGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAATGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTG
Task1_train_21674
The gene HEXA (hexosaminidase subunit alpha), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Inborn genetic diseases
CACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGACACTGACTCCAGCCTGGCTGTGCCCTTACCCTAACGCCATTCACACTTTTTTTTTTAAACACAGGTAATCCATGTTTATTATAGAAAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAGCACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGCAGTGGAAGCCTGGCTCCACTACCATTCACCTACAGCCAGCACCCTCCTCGGTGCCTGGGGCTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACACCTCGCCTGCAAGAGGACATGAAGAAATGGCAAGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTG
CACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGACACTGACTCCAGCCTGGCTGTGCCCTTACCCTAACGCCATTCACACTTTTTTTTTTAAACACAGGTAATCCATGTTTATTATAGAAAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAGCACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGCAGTGGAAGCCTGGCTCCACTACCATTCACCTACAGCCAGCACCCTCCTCGGTGCCTGGGGCTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACACCTCGCCTGCAAGAGGACATGAAGAAATGGCAAGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAATGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTG
Task1_train_21675
A variant was discovered in gene HEXA (hexosaminidase subunit alpha), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Tay-Sachs disease
AGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGACACTGACTCCAGCCTGGCTGTGCCCTTACCCTAACGCCATTCACACTTTTTTTTTTAAACACAGGTAATCCATGTTTATTATAGAAAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAGCACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGCAGTGGAAGCCTGGCTCCACTACCATTCACCTACAGCCAGCACCCTCCTCGGTGCCTGGGGCTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACACCTCGCCTGCAAGAGGACATGAAGAAATGGCAAGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATC
AGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGACACTGACTCCAGCCTGGCTGTGCCCTTACCCTAACGCCATTCACACTTTTTTTTTTAAACACAGGTAATCCATGTTTATTATAGAAAAATGCCACATTACTCTTTATTGAATGCGAGCGCCAGCACCGGCCCCTTTCTCTCCAAGCACAGGGGCACGCAGGCAAGGGGCACGAAGGCAAGGGGCTCCGTCCCCTGGCCAGGATGCAGTGGAAGCCTGGCTCCACTACCATTCACCTACAGCCAGCACCCTCCTCGGTGCCTGGGGCTCAGGTCTGTTCAAACTCCTGCTCACAGAAGCCTACATTGAGGGGTTGGGCCTGGACACCTCGCCTGCAAGAGGACATGAAGAAATGGCAAGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCTTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATC
Task1_train_21676
A genetic alteration is present in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Tay-Sachs disease
TCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTT
TCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATACTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTT
Task1_train_21677
The following genetic variant occurs in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; not specified
TTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGAC
TTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTACCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGAC
Task1_train_21678
A genomic change on Chromosome 15 affects HEXA (hexosaminidase subunit alpha). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Tay-Sachs disease
TTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGAC
TTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTACCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGAC
Task1_train_21679
A variant has been detected on Chromosome 15 in HEXA (hexosaminidase subunit alpha). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; GM2-ganglioside accumulation
CCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAG
CCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCGCATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAG
Task1_train_21680
Given this context: Chromosome 15, gene HEXA (hexosaminidase subunit alpha) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Tay-Sachs disease
GGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGA
GGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTAGCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGA
Task1_train_21681
A variant found in Chromosome 15 affects HEXA (hexosaminidase subunit alpha). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Tay-Sachs disease
TAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATT
TAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGTCTATCTCTAAAATGCACCTGTCTCATGGGGCTGTGGTGAAGACTAAATGAGACAATATTTGTAACAAACTTAGCACAGTGTTTGCCACAAAATACAGTTGTCCCTCAGTATCCACAGGGGATTTGTTTCAGGACCCCCGTGGATACCAAAATCCAAGGATGCTCAAGTCCCTTATATAAAAATGACATAGTATTTGCATATAACCAATGTACAACTTCCCATATACTTGAAATGATCTTAGATTACTTATACCTAATACAATATAAATGCTATGTAAATAGTTGTTATACAGTATTTTTTATTTGTACCATTTTTTGTTGTATTTTTTTTTTCCTGAATACTTTTTATCGCAGTTGGTTGAATCCGTGGATGAGGGCTGACTATAAGCCTCTGTAAGTGTTAGCTATTGTTAATTATTGTCTTCCTCTCTCTAAGGGGTTCCCCAGCCCTGGATCTGGCCTGCTCCGCCTTGCGAAGGCCCCACAGCTTGCTTACCTCAGCAATTCACAGCGGAAGTGTGACAAACGTTCATAGGCAAATGTCAGGTCAGATGTCAACTTGTTGCTCCACAGCCTTTCGGCAACAGCCCCTGCTCTGGGCCTGGAGGAAAAGGGGCATGTGCCAGATTGGGCCCTGTATTCCCTGCAAAGGTGCTGGACATCCACAGGCTGCTACCTCTTGTCTAGGCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTGGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATT
Task1_train_21682
This variant impacts the gene HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
Pathogenic; Tay-Sachs disease
GAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCAATACCTCAAGGATATGAGAGTAGGAAGGAAGAGGTTCACAGTGAAAGCCTTGCCAAAATCAGGTAGGATCTCTACGTAGATGGGCAGAGGAAGGCCTAAGACCTGAGCAATGTGAGCCCATACAGACCCCTGAGAGCAGCAGCTGAGCTAAGCAGCCCCTCGGGTGCTAACTTCTATTCTGAGTAAGCAACTGATCAGGCCACAGTGGGAAGATCAAAGGGCTCATACCAGCAGGTGAAATCAACCTCATCTCCTCCAAGATGAAGATAAAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTG
GAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTATCTCTCTGGGAAGTAAGGTTAACAATCCCTATCCCACATACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACAACAGTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCACCTTCCCAATGTGGCCCTCACCCCAGCTAAGTTGTTTCATTTACTAACTGGAAATGTCTGGCCCAGACCTTCCTGCCTCCCATCCTGTGCCCCAACCCAGCCTCCTTTGGTTAGCAAGGAGAGCTCTCTGCTTTCACCTTCAAATGCCAGGGGTTCCACTATGTAGAAATCCTTCCAGTCAGGGCCATAGGATATACGGTTCAGGTACCAGGGGGCAGAGAGAAGGGCCCGGAAGCCGGCCTTGGTGACCAGTTCCAGCTCCTTCATATAGTTCACTGGAATATCCTCTCGCCACACCTGTATGATTGTGTCTGGCTGAATCTGTTATAAAAGGTCAAATGGCAGTAAGGACACAAAGCTGAGGAGATTCCTGGGCCTTATTCATACACAGGCAACATGGGACAACAGGTATGTGCTCCCTCTGTTCCCCAGCAGCAAAGTATGTCTCTGTGACTCCTGACCATTGAGCTCACACCTCAGGACAGAGGCCAAGGAATCCAGGGCCCTAAGAGGCCTCCCTGCAGCTCTCCTCCCCGTCCCTCTGCAGCCTCCCTGTCCACACAGAGCTAGTAATACCAGCTGTGAGCTGAGGGAGGCAAGCAGTGGGACCCAGGAGCTGCCATGTCCAAAAGTCTCCAGATGTTTCTGGGGACGGGACAAGGTTCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCGGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCAATACCTCAAGGATATGAGAGTAGGAAGGAAGAGGTTCACAGTGAAAGCCTTGCCAAAATCAGGTAGGATCTCTACGTAGATGGGCAGAGGAAGGCCTAAGACCTGAGCAATGTGAGCCCATACAGACCCCTGAGAGCAGCAGCTGAGCTAAGCAGCCCCTCGGGTGCTAACTTCTATTCTGAGTAAGCAACTGATCAGGCCACAGTGGGAAGATCAAAGGGCTCATACCAGCAGGTGAAATCAACCTCATCTCCTCCAAGATGAAGATAAAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTG
Task1_train_21683
The variant affects gene HEXA (hexosaminidase subunit alpha), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Tay-Sachs disease
TCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCAATACCTCAAGGATATGAGAGTAGGAAGGAAGAGGTTCACAGTGAAAGCCTTGCCAAAATCAGGTAGGATCTCTACGTAGATGGGCAGAGGAAGGCCTAAGACCTGAGCAATGTGAGCCCATACAGACCCCTGAGAGCAGCAGCTGAGCTAAGCAGCCCCTCGGGTGCTAACTTCTATTCTGAGTAAGCAACTGATCAGGCCACAGTGGGAAGATCAAAGGGCTCATACCAGCAGGTGAAATCAACCTCATCTCCTCCAAGATGAAGATAAAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCT
TCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAGATGAGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTGGCCTACCAAAGTGCTTGGATTACAGGCGTGAGCCACTGCACCCAGCACTCTGTGGCCTTTCTAGAGAGAAAAGGAGAGTGCTCCGACCATTAAAGCCCAATCCAAACCAGGAGGATCAGTCTCTGTAGAGGCAGGGAGGAGCTGGGGAGACCAGAGGGAGGCACTGCTGGTGGCTTCTTCTCTTCTCTGCCCCGGCTCACCTTTACTTTATTATCAAACACCTCCTGCCACACCACATAGCCCTTGCCATAAGAAGAGACGATGTCCAGCAGCCTGGAGAGGAGAGGAGTGTCTAGTAAGTGTCTGCTTAGCTCAGATGGGTTCTAGACTGTTTGTGCCAGTGCTCTAGGGGTTGAGCCTGGCCAGGGGCCTATTCCTCATTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGAAAGGATGGGACAAAGGACAAGGGAACCCTGCAGGGACCAGACAGTGGCCAAGCAGGGCCTGACTCGGTATGGAAAGGGAGGACCCCACAGGAGGACCCCCAAGGGACCCCACCCACCCTCCTTCCTTCCTCACGTCTGGATGTAGAAGGACTCCAGCTGCTTGAAGTCCTCACCGAAGCCTTTCTTCCTCATAAAGTCCTGGATCTCTGGGTTGGACTTCCTGAATCCCAAGAGAAAATGAAGATTAATCTTTCAACATCCTGAAAGCCTAATGCCTGGGGATTAGTCACCTGGCCCCCTATAACTTCCTCTTTTCACCTGAAAAATCAAATAAGCAAGGATCTCAGAAGCCCTACATGTGGAAAGTGTGGCCAAGCAAAGTTATGTGAAGCAGGTGGGCTGTTGACACAGGCTGAGAAAGGCTGAGTCTGGACCTGAAGAGTTTTAAGTTCAAACTCCCAAAGAGAAAACATATTAATCCTCTCTGGACTGCAACATGAGAATCCAAGGTCTTAACTTGAAGCTCCAGCACACTGGATTTCGGCTTTCCTATCTGCTCTTCCAGTTGGATGACAAGCCTTGCTGTCTAACACCTGCTGCAGATCCCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCAATACCTCAAGGATATGAGAGTAGGAAGGAAGAGGTTCACAGTGAAAGCCTTGCCAAAATCAGGTAGGATCTCTACGTAGATGGGCAGAGGAAGGCCTAAGACCTGAGCAATGTGAGCCCATACAGACCCCTGAGAGCAGCAGCTGAGCTAAGCAGCCCCTCGGGTGCTAACTTCTATTCTGAGTAAGCAACTGATCAGGCCACAGTGGGAAGATCAAAGGGCTCATACCAGCAGGTGAAATCAACCTCATTTCCTCCAAGATGAAGATAAAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCT
Task1_train_21684
A change on Chromosome 15 affects gene HEXA (hexosaminidase subunit alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Tay-Sachs disease
CCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCAATACCTCAAGGATATGAGAGTAGGAAGGAAGAGGTTCACAGTGAAAGCCTTGCCAAAATCAGGTAGGATCTCTACGTAGATGGGCAGAGGAAGGCCTAAGACCTGAGCAATGTGAGCCCATACAGACCCCTGAGAGCAGCAGCTGAGCTAAGCAGCCCCTCGGGTGCTAACTTCTATTCTGAGTAAGCAACTGATCAGGCCACAGTGGGAAGATCAAAGGGCTCATACCAGCAGGTGAAATCAACCTCATCTCCTCCAAGATGAAGATAAAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGA
CCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCAATACCTCAAGGATATGAGAGTAGGAAGGAAGAGGTTCACAGTGAAAGCCTTGCCAAAATCAGGTAGGATCTCTACGTAGATGGGCAGAGGAAGGCCTAAGACCTGAGCAATGTGAGCCCATACAGACCCCTGAGAGCAGCAGCTGAGCTAAGCAGCCCCTCGGGTGCTAACTTCTATTCTGAGTAAGCAACTGATCAGGCCACAGTGGGAAGATCAAAGGGCTCATACCAGCAGGTGAAATCAACCTCATCTCCTCCAAGATGAAGATAAAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACATGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGA
Task1_train_21685
A variant has been detected on Chromosome 15 in HEXA (hexosaminidase subunit alpha). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Tay-Sachs disease
AAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAG
AAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATGTGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAG
Task1_train_21686
Located on Chromosome 15, this mutation impacts HEXA (hexosaminidase subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Tay-Sachs disease
CTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGC
CTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAAGATACAAATATATCCACAATCATAGGCAGAGGCTAAGTTCCAGCCAGACAACTGTCAGTGCGCACACTCTTGCCTGGACACACTGCTTCTAGCAGGTGCTACCCTTGCTCCCAAGGCTGCTCTCCTCACAGGCCTTGAGGCAGAGAGAGAGCCTAATCCAGCCAAACTGGCAAAATCTTTCTTCTCTATCTCCTCCTGTAGGTGGGGTCAACCATCACCCAGAATCTTTTTACATTTGCTAAGGGATATCTCCCTTGGCCCAGAGACTACTTCCTGACGCTGAGGTCACAAGATATCTTCAGGGTTTTTTTTTGGTTGTTGTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCAAAAGTGGTGGGATTACAGACATGAGCCACCACGCCCGGCCAATATCTTCAGTTTTCTATCAGGCCAGTAGCCCTTTTCAACTGTCATTTAACCTGTGTTGGGGGCTCACACTGGAGGGCTGAGGGTATACAGAAGAAAGGGAGCAGGGGTACTGACTGACTCTGACCTCTGCAGGCTGCCCTTGGGCTTCTTTCTTTCAGATTCTACCCTGGTGGTCAGATTCCTCAGCATCCACTCTAGGCACAACTACCTGCAACGGCATCTGAGAAAAATGTGCCCTTACATAGTCTAACAGTACATATTTTAATAGTAAGAAGCAGCCTCCATTGTCCAAAGTGAGTTCTTCCTATCTAAATTCCCAGGTGGAAGAAGTCGATGGAAAACATTCTTCTAAGGACCAAGGCTGGGATATGCCACTTCCATGAGCCAGTGCCCTGAAGCTTCACTCTGAGCATAACAAGCAGAGTCCCTCTGGTCCCAGACATCATTCTTACCTGGTCCCCAGGACAAAGTGTGGCCAGGAGTGTCAAACTCTGCAAGCACACGGATACCCCGGAGCCGTGCGTATTCAATGACCTCCTTCACATCCTGTGCTGTGTAGATGTGGGTGACAGGGTTGTAGGACCCCTGAAAGGCACAAGACACCCTTCAGGTTCACACTTCCTGAAAGCTAGCAGAGTAGAAGATACTCAAAATGCCCACAAGACTCCCCAGATATCAGAAAACCTGCCCATAGCCCTTTGGTGTCAGGGACTATCTTCAAAAAACTTGATCATAATTTCCCAGAAGTTATCACATCTGTTTTATCTGAGTATCATAATGCCAGTGAGATAATCATGGTAGGTATTAATACTATGTCCATTTAACAGAATATAAATACATAAAAAGGGAATAAGGCCAGAAGAGATTCTCTCCTGAAGGTCACAAGGCAAATTATCGGCAAAGTTTTGGACTTGAACTCAAGTCTCCTGACTCCAAATCCAGTGTCCTTCCCCTATATTGGTCTAAAACTGGCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGGAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGC
Task1_train_21687
Consider this mutation in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is this a benign change or a disease-causing variant?
Pathogenic; not provided
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGAGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
Task1_train_21688
Consider this mutation in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is this a benign change or a disease-causing variant?
Pathogenic; Tay-Sachs disease
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGTGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
Task1_train_21689
A variant was discovered in gene HEXA (hexosaminidase subunit alpha), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Inborn genetic diseases
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGTGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
Task1_train_21690
The following genetic variant occurs in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Global developmental delay
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGTGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCT
Task1_train_21691
Given this context: Chromosome 15, gene HEXA (hexosaminidase subunit alpha) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Tay-Sachs disease
CCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTATCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCTGATGCTGCA
CCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTCCCAGAACACATCCAAAGATGGATGATAGAAGTGGTCTTTCCTCTTCTTGAAATAAATTCTGGCCACATTAAGAGGAGGGCTGCAGCTACTGTGGTAGCCTGGAATCTTCCAAAAGCCTGAAGATCAATACTTCCTCTTGCCATTTGTGTTCGGTTGTCTGACTGATGTTAAGCCCAACTGTGAGACCTCCTGGGAACTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCAATCACAGTTCATGCATCCTTGATCTCCCCAGGCTCAGGTGATTCTCCCATCACAGACTCCTGAGTAGCTGGGACTACAGGTTTGCGCCATCGCGCCTGGCTAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTCTTGGCCAGGTTAGTCTCAAACTCCTGAGCTCGGGCAATCCACCCGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGCCCCAAGTTAAGGCTTTGAACGTCTCTCTCCTATGACCTTGTTCTAACTAAAGTTAGCTCTGCCGGCCAGGTGTAGTGACTCATGCCTGTAATTCTACCACTCTGGCAGGCCAAGGTGGGCAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGACGAAACCCCAGCTCTACAAAAAATACAAAAAAAAAAAAAAAAAATTGAGACGCTGTCTCAAAAACAAATATAGTTAGCTCTGCCAATGAAGCCAATTCCCCTAAACATTTGTATCCCTGGAAACAGCCTGAACATTGATCTACAGTAGCCTGTAAGGTAGATTTAAGTCACTCTGTTATTTTTTGAGTCTTGGAGCAGCTCATCTTCTACATTTTTCCCAGGAGCTCATAGAATTACATACAATTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCCACCCACTGCAACCTCTGCCTCCTGGGTTCATGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAAGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTTCTGACTTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCAGTCCATACATTCCCTCTCTAACTCTTTAAGAATTTGGAACTTGGTCTGTCCGTTGCTCCATCACCCTAGAACTCTTAAGTGTGAAGAAGGCCTTAAGGCCTGGTTACCAGAGTGTCCAGGATGCTAGAGAGTGGCAGGTAATGGCGAGATGTAGCCAACAGCAAGCCCCGGTGAGGAAAGCGGGGAAAGTCCTCAATCTCAGTCTTGTTGATAAAGAACTGTGCAGAACAAACATTGAACATGTCAGTTTCAAAGGAAGCTTACTATGGGGGCACAGGGAGATGAAGACAACTCTCCCAGGATTCTTAAAAAGCCAATCTGTGACTGTTCTCAGGGTCGCTCTCTCCCTAAATGCTCCCCACCTCTATAAATGACCATAAGCAGCCACCTTCCCAGAGAGCAATTGTCCAACGCCAGCCTAATACAACTGTCCCAAACACCACTCAGCCTACAAATTCTGGATTTTCCTGTTAACATAGTTTATTTTCTTCAAAGCAGTGTGGCCTCAAGGTCATTACTAAATGATGACTCAGGGGGACCAAATTACAGTGATTCCAAACAGACCAAATCTACCAAACCAGTTTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCTGATGCTGCA
Task1_train_21692
The gene HEXA (hexosaminidase subunit alpha) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Tay-Sachs disease
TTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCTGATGCTGCACAGGGTAAAACCTGTCAACTTCCAGGGACAATTCCACAGAGACGGGAAAACACGCCAATTGTTCCCATAAAAAAAGCTTCCTGGCTGGGCGCGGTGGCACACACCTGTAATCCCAGAACTTTGGGAGGCCGAGATGGGTGGATCACTTGAACTCAGGAGTTCAAGACTGGCCTGGGCAATATGGTGAAATCCCATCTCTACTAAAAATACAAGAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAAGAGGGAAGATTGCTTGAGCCTAGGAGGCAGAGGTTGCAGTGAGCAGGGACTGGGCCACTGCACTCCACCAACACCAACCTTCCCACATCATCCTTTCTCTCTCTCTTTTAATCAGCCCCAATTTGTTACCTCGGAGAGCTCCCCAGACAGTCTCAGAGAGGAGTAAACACTGGTCATCATTTATGGTCAGGGTATCTGAAATGACAGAAATGAACTCATTTAGTTGGTTAAGGTTTTCTATTCTCAGATTATAGACCAGATATTCTATATAAATCACTGGACTAAAAAAAAAAAACAGTAAGACCATATATTTTAAAAAATCTTTCAATGAGGAGATGTCCCCAGAGCAAGACAGCTGTAGGATGGCCTGGTCTGGGGCCAGAGTGGGAGGGTGGTCACCACAGTGACTCTGTAGACCCTGGATGATGATGTACAGCAAGAGTCAGGCTGGAGTGGAGGTCTGTACAAAGCACCACCTACCTCATGGGTCAGTTTCCACAGCAGAAAGATGAAAGAAGTCTTCTCCTGGCAAAGGGAACAGGGATGCCTGCAGGGGTGAGTGCAGCACGCGATGCTCCCAATGCCTTTGTAATCACCCTCCTTTCCCCTTCCTCTATGCTTCAGCTACTTCCTCCAAGAATGTGAGGAAGGAGCCAAACTCAACTGTTCACTTTGGAGACTGAGAAGTCCCCAAATGCTGCTCAGGGAAGACAGGAGGCAGTCACTGGACTAATGACTTAACTTCATCTCAGTATAAGTGACCAGAACCCCTGCTTTCCCCAGTGTAGGGTCTATTAGAGAAAAGTAGCAAAGTATACACTTTCCTAAAATAGAAATGTATTCAGTACACCAGGTAGAAGTCCTGTGGGACTCAGTGAAGAGCCAGTGTGATGTTCCACAGCCAACCTTTAGCACTGGTTAAGTTTCTGCATAGGAAAAACTCATCTTCCATGGCTCTCAGCACTTGGTGACCCTCGGTCCCCAGGGTCAAGGGGGACTCCAGGCCGAGCATCAGCAGTTTAGGCCAGGCCATCCAGAGTTACAGCTTCAGACAAGTGTTTGCTCTTCTAAGACAGGGAACAGGATGGTACTTACAATTCTCCACTGACTCCAAAGTAGGAAGCTGGTTACATCCAGGTGTGACTACAGAGACAACCAACACATTCTTCTCCAGTGTATGCCGTTTCCCTAGGAAGACAGGGTAAGCTTGGTGCGGCCAACCTGCCATTAGAAGCAACAGGCAAAACCAAGACCCTAGCTCTAGTCCCTCAGCTCACACGCCTGTGGTAAAGGAAAGGGAGGACATGGCATTTACCCTTGGCATAGGCAGTGCCTGATCATCTGTTCAGCTGTCTCACTCTCGTTGTGCCCCTCTTCTCCTCAGTAGCTGCCCTGACCCATGTCTGAATGCTCTGGGTGACAGCTCTTCTTAACCAGGGCTCTATATTTCTGACTGCCCTTGGCCTGTACCAAACAAACAACTCCATGACCTCAACAACTGCTTCTGAATGAAAGGCAGCTCTAGAGCACTGCTACTCCAAGTATGGTCTGCAGATTAGCTGCCAATTTGCAAACTGTGTTACTGGCTGGTCACTATATAGAAAACTTATATGAAGCCTGAATGTAAATCAATTATGTCAGAGTAAACACACTGTCTAGTTCTAACATTTTTTCATACAAGATTTTCTTGATGAAGAGATCAGTCTTACATTCTGGTACATATGCTTCTTATCTCATTGAAGATTGGCATATTAAGTAGTACTGCTCTTGAGGGCTCCAGATGAAGGGTTTCCAGTTTTGCAAAAGCCTAGGAGCTAATGGAGCAGATGACAGAAGGATCAGGCAGAGGAGGCCTGAGATGATGCAACTGATACCTCAGAGAAGATCAGGGTCACCCACCCATCTTGCTTCCTTCCTTCCTCTTCCCAAACAGGTTCTCTATCCAAGGTAGATTTTACCCTAATAGTGGAGGGTTGAACCAACATAGTATCTAATATAGCTTTACAGACCCTTGTCTATGCAGAAAAAATGCCAAAGCCAAAATATGAATACACTGTCTCTTCTCACCCTCCTGCTGGTTCTTCCCTGTGATTTTCAGGGTGGCTCTGGTGTTATAGCCCCAAGCCTTAACTTAATGAACCCCTCTCTATTCTATTCTTTCCTGGAGCCATATTCATCCCACTGGCATCACAACATCCATGACTTCTTA
TTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAGGCTTGACGATTTTTAACACTGATGAAAAGGGGATATTAGGAAGCCACTATCCATCTTTACTTCTGTATTTCATTTTGGGAGATGTCAGAGTAAGGGTTTTAGTGCCCTTCCTTACAACATACTAACCTTCAAAACCCACATACCTCTTATCTATATTTCCTGTGCCTTCACAAGAATATTGAGAAGAGAGGCCAAGACATATACTCATGAGGACAGACACAGAGACAACTCAGCCTGCAAGAGTTGGACTTTTCATGGATAACCCCTATCAGGAGCTAAGAGAGCTGAGAAAAGGGGTCCCAGAATAAATTGTGAGAAAGTGATCATAAGCTTGGGTTTCCAAGGAGCCTGGGTTCATGGCTGGACCTAGAAGATAAAAAAAATCATCCACTCTTCCTCTTCAGAGTCTAAGAAGAGACCCAGCTATAGGGAGCTGAGGTGTGGTGGACAGCAACTGCCCCAGAAGGACTCCCCTAGTCCACTGACACTGTCTCCTAGAGTCTAGCAAGGCCCACACACAGGTATGTTGAACCCAGAGTATTGTATGTTCTCAACAGCTGGGGCCCCTCTTCTGGAAACCCTGCAGAAGCCCCATGAAAATTATCAGAGTCCCCAGTTTCAAAGTGAAAGAATCCATGAGACCTCAGCAGTCACTCAGCACCTGATTTGAGCAGACTGCTAGTGTACTGTTTTGGCTTCTCCCCACTCTGACTCTGACACCCAGCATTCTGGAGTTCCAGGTCCTCCCTTACCTCTAGCCTGACTCACCATCAGCACCTGCATGAAAGGTACAAGAGGGCAGGAAGGGGAGGCAGCATGCTGTTGCTCCAAGCATAGAAGTGGAGCAAGGGAATGAAGACAAACTAAAGCAAGGTGTGGAATTCCGAGAGAGTTTCCCACATCATTCACCAGCAGAGGGTTTACCAAAAGTGGGAGAGATATTTGGCTAAGTCTGTATCTAGGCACCAAATGCCTTCTCAGTAAACCCAGAAGAAGGGCAAGGGCCAATAGTTTAGCCAGTAAACTCATTTTCTCCAGAAATAATGTAGTTCTAAATATTTCACTACTATTTATCTTTTTTTTTGCATGTATCTATTTCTTTTGTTATAGTTTTCCTTTTAAAAAAACCTTTCCAATTACATGTCTTTAGCAAGAGCTGGACAGACAGTGTCTGTGGTAGCATCATTCCCCCTGCCCCCAGCTACCTGTCCCCTGCTGGCACCTAGAACATCAGCCCACAGACTCTCCTACTGCTTCCCAGAGCCCCTGACTAGGGCAGCAGCAGTTGCTGATGCTGCACAGGGTAAAACCTGTCAACTTCCAGGGACAATTCCACAGAGACGGGAAAACACGCCAATTGTTCCCATAAAAAAAGCTTCCTGGCTGGGCGCGGTGGCACACACCTGTAATCCCAGAACTTTGGGAGGCCGAGATGGGTGGATCACTTGAACTCAGGAGTTCAAGACTGGCCTGGGCAATATGGTGAAATCCCATCTCTACTAAAAATACAAGAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAAGAGGGAAGATTGCTTGAGCCTAGGAGGCAGAGGTTGCAGTGAGCAGGGACTGGGCCACTGCACTCCACCAACACCAACCTTCCCACATCATCCTTTCTCTCTCTCTTTTAATCAGCCCCAATTTGTTACCTCGGAGAGCTCCCCAGACAGTCTCAGAGAGGCGTAAACACTGGTCATCATTTATGGTCAGGGTATCTGAAATGACAGAAATGAACTCATTTAGTTGGTTAAGGTTTTCTATTCTCAGATTATAGACCAGATATTCTATATAAATCACTGGACTAAAAAAAAAAAACAGTAAGACCATATATTTTAAAAAATCTTTCAATGAGGAGATGTCCCCAGAGCAAGACAGCTGTAGGATGGCCTGGTCTGGGGCCAGAGTGGGAGGGTGGTCACCACAGTGACTCTGTAGACCCTGGATGATGATGTACAGCAAGAGTCAGGCTGGAGTGGAGGTCTGTACAAAGCACCACCTACCTCATGGGTCAGTTTCCACAGCAGAAAGATGAAAGAAGTCTTCTCCTGGCAAAGGGAACAGGGATGCCTGCAGGGGTGAGTGCAGCACGCGATGCTCCCAATGCCTTTGTAATCACCCTCCTTTCCCCTTCCTCTATGCTTCAGCTACTTCCTCCAAGAATGTGAGGAAGGAGCCAAACTCAACTGTTCACTTTGGAGACTGAGAAGTCCCCAAATGCTGCTCAGGGAAGACAGGAGGCAGTCACTGGACTAATGACTTAACTTCATCTCAGTATAAGTGACCAGAACCCCTGCTTTCCCCAGTGTAGGGTCTATTAGAGAAAAGTAGCAAAGTATACACTTTCCTAAAATAGAAATGTATTCAGTACACCAGGTAGAAGTCCTGTGGGACTCAGTGAAGAGCCAGTGTGATGTTCCACAGCCAACCTTTAGCACTGGTTAAGTTTCTGCATAGGAAAAACTCATCTTCCATGGCTCTCAGCACTTGGTGACCCTCGGTCCCCAGGGTCAAGGGGGACTCCAGGCCGAGCATCAGCAGTTTAGGCCAGGCCATCCAGAGTTACAGCTTCAGACAAGTGTTTGCTCTTCTAAGACAGGGAACAGGATGGTACTTACAATTCTCCACTGACTCCAAAGTAGGAAGCTGGTTACATCCAGGTGTGACTACAGAGACAACCAACACATTCTTCTCCAGTGTATGCCGTTTCCCTAGGAAGACAGGGTAAGCTTGGTGCGGCCAACCTGCCATTAGAAGCAACAGGCAAAACCAAGACCCTAGCTCTAGTCCCTCAGCTCACACGCCTGTGGTAAAGGAAAGGGAGGACATGGCATTTACCCTTGGCATAGGCAGTGCCTGATCATCTGTTCAGCTGTCTCACTCTCGTTGTGCCCCTCTTCTCCTCAGTAGCTGCCCTGACCCATGTCTGAATGCTCTGGGTGACAGCTCTTCTTAACCAGGGCTCTATATTTCTGACTGCCCTTGGCCTGTACCAAACAAACAACTCCATGACCTCAACAACTGCTTCTGAATGAAAGGCAGCTCTAGAGCACTGCTACTCCAAGTATGGTCTGCAGATTAGCTGCCAATTTGCAAACTGTGTTACTGGCTGGTCACTATATAGAAAACTTATATGAAGCCTGAATGTAAATCAATTATGTCAGAGTAAACACACTGTCTAGTTCTAACATTTTTTCATACAAGATTTTCTTGATGAAGAGATCAGTCTTACATTCTGGTACATATGCTTCTTATCTCATTGAAGATTGGCATATTAAGTAGTACTGCTCTTGAGGGCTCCAGATGAAGGGTTTCCAGTTTTGCAAAAGCCTAGGAGCTAATGGAGCAGATGACAGAAGGATCAGGCAGAGGAGGCCTGAGATGATGCAACTGATACCTCAGAGAAGATCAGGGTCACCCACCCATCTTGCTTCCTTCCTTCCTCTTCCCAAACAGGTTCTCTATCCAAGGTAGATTTTACCCTAATAGTGGAGGGTTGAACCAACATAGTATCTAATATAGCTTTACAGACCCTTGTCTATGCAGAAAAAATGCCAAAGCCAAAATATGAATACACTGTCTCTTCTCACCCTCCTGCTGGTTCTTCCCTGTGATTTTCAGGGTGGCTCTGGTGTTATAGCCCCAAGCCTTAACTTAATGAACCCCTCTCTATTCTATTCTTTCCTGGAGCCATATTCATCCCACTGGCATCACAACATCCATGACTTCTTA
Task1_train_21693
The gene HEXA (hexosaminidase subunit alpha), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Tay-Sachs disease
ACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGT
ACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGTAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGT
Task1_train_21694
A variant found in Chromosome 15 affects HEXA (hexosaminidase subunit alpha). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Tay-Sachs disease
GCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATC
GCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAACGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATC
Task1_train_21695
This variant affects gene HEXA (hexosaminidase subunit alpha) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
Pathogenic; Tay-Sachs disease
CCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAAC
CCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTTATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAAC
Task1_train_21696
A sequence alteration has been identified in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is it disease-inducing or harmless?
Pathogenic; Tay-Sachs disease
AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAACCA
AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCAAGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAACCA
Task1_train_21697
Here is a genetic alteration in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Tay-Sachs disease
AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAACCA
AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCACGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAACCA
Task1_train_21698
This sequence variant lies in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Tay-Sachs disease
AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCATGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAACCA
AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGCTCAAACTCTTCTAAACCAAAATCAACATATTCTGAGTGCCAATCTTGGGTAAGGCACTCTATTATTTGTCATGAAGGATTCAGAGGAAAATGTGATCTACCACACTCAACAGCAGGCCTCTTATCCTCTCCAGCTTAATGCATTTTACCAGTTAAGGACTACCCTGATGCTGAGATTGTGTTTCTTTCCCCAAATCAAATGTCACTCTCTAAGGGTCATCTGTATAATTAAATGCTTTTAATTCTATATATCAAATGATAACTTTTGTGAAAGTAATTTAAACACACTTGAAACATCATATAAAATATTACTACAAGACTTAACCGTAAATGTGGCTCCCACCCCCATAACATCTATACAATATAACCAAAGAGCTAGATTCCAGATTATCAAGAAACTTCTAAATTTTGAACCCATGCAGCAGAATTGTATTCCTTTACATTGTTGGCTCGACTTACAAATGTGCTGTGGAATAATTATCCTCAAATACAATTTTCAGTACTGATTACATAGCTGCCTAAAAGAAAACTGTTAGCCCCTTCCATTTTATGTGAAACCAATGTCTAAAGCGCTCTTGACTCTTCAACCCCACATTTTCCCCACCCTCATCCCTCCTCAATCCCCAGCCCCCACTCATCACATCCACTAGACCTGAACTTTGAACTCAATCATAATTCTTTGTGCCTCTGCTCAAGCCCTTCTTCCTGCCTGGAATACCCTCTTTTCAGTCCCGGCTAATTACATCTACCATCCCATTCCAAGTGGCCGCTGGAAACTCACTTCCTTATGTTCTATGATTTCTTTCACAATTTACACTTTTTTTGTTTTGTTTTGTTTTGTTTGGGGGGGGGGGTTGTTTTTCTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACCACAACCTCCACCTCATGGGTTCAACCGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCGCGCGCCGCCACGCCTGGCTAATTTTTTGTGTTTTTGGTAGAGACGGGGTTTCACTATGTTGGCCGGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCAAACATTCTATGTGCCAGAAACTTGTATGTAACTTTGCATAGTTCTTGTATTATGTCTCCCCAATTTTGAGTGTTTTCTCTGGTCTCTACTCAGCCCTTGCTCACAGTCTCACTAGGACCCTGGCTAGCTTGAACACGGTCAGAAGGATCACCTTAGATTTCTGCTGGCACAGTATTTTCCATAAATTAATCTCCTGATTGAACCGTAGTCCTATAGTAGTTATCTTTGGATGAAAACCTAATGCAGCTCGAGGAGGAAGTGGAGTGCCTGTGATCAGAGGGCTGGACAAAAGCCCATAGGGCGTCTCTGGAGCCCTGGGGGAACTGTCCCCAGGCAGGCACTCTCAGGGCCCAGGAACAGGGCGGGACAAGTCCGACTCACCTGTGAGGTAAGGACGGGGCCAAGACCCGGAACCGAAAAGCAGGTCACGATAGCGCTGGAAGGCCTCGTCGAGGACTGAGCAGCCGGGCTGCGCGGCCGAGCTGACATCGTACTGGAATTGAAAGTTGTTCGGGTAAAGGACGTAGCGCTGGTCGGAGGTTTGGAAGTTCTGAGGCCAGGGCCAGAGGGCCGTCGCCCGTCCTGCGAACGCTGCCGCCAGCAGCAGCGAAAACCAAAGCCTGGAGCTTGTCAGGGCCCGCTGGTCTCCCCTCTCGGAGGGGGCTGGCCACGTGAGACCCTGGTCAGGTGAGCGGCGCCCCCGTGACTTATCGGCGAATCACGTGACCAGAGGCGGCTCTGCGCCTGCGACCCCAGGAGGACCCACACCCTGCCCTTTCACTTCCGGCCTGGACCTGAGGCTCCTGCTACGTGCAGCGGATTGTGCCGGGCGTCGGCAACTGCTCGGCTCGCCAGACTGTTCACGGGCCCAGTAGAGCAGTAAATAACCGGCCACCCCTGCGGCCGTGCCGGCCGTGATGGAACTAGACAGCTCACCCGACTCGAGAAGAACGGGGTGGGGAGGCGAGGACGCAGGGCGACCTGGAGAAGAAAGTTTCCCAGATGGCTCTAGGGTGAATCTTGAATGTTGTGATGCAGCTCGCCAGGCCTACGGGGAGGTAAAGGACTTGCCAGGCTGAAGTAACTTCAGAAGCAGAAAAACGGAGGATTAAAACCACAAGTCGTTGTGATGTGAAATTTCGTGGGGCAAGAAAGGGCCGGAAGTAGGTAGTCTGCACGGCTCTGCTAGAGAGAGGATCACAAGATCACACAAATGTGATCTACTTATGACTGGAAAAAATGTGTACTTTCAGAGCCAGCTTGAGGCATTCCATTGCCTCCAATATGAGCTCTTCCCTTCAAGATTGACTATAAATCTCTTAGTTACAACTCACATCCCCTTTCCCCAGACAAAACCCCACATAGCCCGGTGTGTATTTACTGAAAGCAGTAAGATATTGCTGGGGCTTTGGGTGCAAGATGGAGAGTGCTCAGAGATAATGACAGGGGCCTGGTCCTGCAGGGCCTTACGTAGAAAGTCAAGGAATTTATTCTCTGAGCAATTGAAAATCATCCCGAAAGATCTGCATTTTAGAAATACCATGTTGAGTAGTTGCATAAGAAACCAGTTAGGAGGCCCCTTTTTATTGGAGGTAGAGAATAATGAGAGACTGAACTACAGAAGTGGGGAAGGAAGACAGCTGTAGATCCAAGAAATAGTATCCGGAAGAGAGGCTTGAGAAGTGATCAAGGAGAATTCCACAGTTATCAGAGACCCTGTCTTCCTTGTTCACCACTATATTACCAGAACATAATACAAATAATGCTATTGTTATTGGGTGGCATTATTTGGTTAGTAGGTACTTTTTAAAATTTTTAAATTTAATTTTAGTATTAAAATACATGTAAAGATCAGGAAAATGAACTTTTAAAAATAAAGGGCTTTCACTGGGCATGATAACACATCCCTGTAGTCCCAGCTACTCCCAGCTATTCAGGAGGCTGAGGCGGCAGGATCACTTGAACCAAGGAGTTCAAGTTTAGCCTGGGCAGTATAGTGAAACCCTTTCTCAAAAACAAATAAAGGGCTACTGAAATAATGATAATTTATATTCAGGTCGTAGGTACCTAATTACTAGTTACACATACATGGCTTTGATGGGAAATCAAAGAAACATTCTGACAATACAGAGATTCATCAAGCAATTTGTCTTTGAAAGTTGATTATTCAAAAACAGAGCTTGTAGCAAAAGAAGCAGAAATTAGATCCCACAGTCATCAAGTTTCAGATCCTAAGGCTTGCATTCTTACACCAATTTCTTCTTTGCTTAAATCTTAATTTTCATCAGCATTAATTAAGTGTCTGGGTACTCTGCCAGTCAGGAGAGATGTTACCAAAGGTACAGGATTTGAGAAGTATTGTCAGAAGAGCCAAGTTCATAATCAGGCCCACAGGATCAATAATTTGGGGGAGTGTTTAGAGCAGTTTCAAAGATGAGAGCAGTAGATCAAAGTAGAATTTCAGGACTGAGCACATGCCAAGGCACCCTTTTATGGATATTCAACCTGTACCAGAAGGGAGGAGTCATTTACTTAAAAGAGTTACACAAGATGAAAGAGCTAGATCCAAATAAAGACGCTATAAAAATTACTAATGGGGCTGAGCATGGTGGATTACAGGGATTCAGTTATTTAATTATTACTGAAAGAGCTCTTTTAGACTTAACCAGATTTTTAAACCA
Task1_train_21699
Given a variant located on Chromosome 15 and affecting BBS4 (Bardet-Biedl syndrome 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Bardet-Biedl syndrome 4
GGCATGATCTTGGCTCATTGCAGCCTTTGTCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCCAGTAGATGGGACTACAGATGAGTGTCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGAGTTTTATTTTTTAATTTCTCTCTTACTGCAAGGTTGATCATCATGTGTATATTTAAAAACCATTTGTATTTCCCTTTCTCTGTATCTTTGGTGACATACCATATGTGTTACAAACTTGCAGGCAGACAGTGGTAGTACTAACATGCAGAATGTATCCTTGGTGTCATCTTTTTTGGTATCCAGAGCTTTGTGACCCATCTAAGGTTTTTAATTTATACCCATGGCATTTATACCTATGGCAATGCACAGAACTAATTCATACTGGTATGACAAAGATTCATACCAGTTTTTTTTTTTCTTTTTTTAAGTGGAGTTTTGCTCTTATTGCCCAGGCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCCCCGCTTTCCAGTTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTCGCTGGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTGTATTTCTAGTAGAGGTGGAGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTGCTGACCTCGTAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCCATACCAGTTTTTTTTGACACCGCTGATCCGAAGGCAGATACCAGTATGAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCGCCAAGGGTGGAGTGCAATGGCGTGACCTCGGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTGCCCGCTTCGGCCACCCAAAGTGCTGGGATTACATGCGTGAGCCACCGCGCCTGGCCACCAGTATGAATCTTGAAAGGTTCTCTTTCTTTTTCATCTGTGATAATACTTGGAAATCTTATCACACTTTTCTTAGCTTGCCTAGTTAGATTTTAGACAGGGGTTGGCAAACTTTTTCTGTAATGGGCCAACAATATTTTAGGGTTTGTAGGCCACATACAGTCTCTACATCATATTTGTTATCTTATTTTTTATAACCCTTTAGAAATAAAAAAACCACTGTTAGCTTGAGAGCTGTACAAAAATATACAGGGCCTGTAAGCCCTGTAGTTTGCAAATCCCTGTTCTAGAAGAAGTAATCACAACAAGGGAGTTGAAATTTTAAGAAACTGAATGAACTAATACTTTACTAGGCATTATTAATACTCTAGGTTTTTTTACATATGATTCTTGTCCACGTCTGCTTTTTCATTACTATTTGTTTTCTTTTTTTTTTCAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACGCACCACTACTGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTTAGGCTGATCTTGAACTCCTGACCTCATAATCTGCCTGCCTTGGTCTCCCAAAGTTTTGGGATTACAAGCATGAGCCACCGCACCTGGCCTGTCCATGTCCACTTTTTCTTAAAGACACCTGAAGAAACTTAACCACTGCTCAGAAGCATTTTTCTCCCTCTTTCAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGGATTGTGTGAATATGCTATCTATGTCCAAGGTAAGACACATACTTCTTGTCTTCTTGCTAGAGAAATACACTTTTCCTAGGTTCTTGAAAAAGATCAGGCAATTGAAGAAACAAGTTCAAGTACAGTCATGCACCACTTAACAATGGAGATATGTTCTAAGAAATGTGTTGTTAGGCAATTTTGTCATTGTGTGAACATTACATGGAGTGTACTTACACAAACATAGATGGATGATATAGTGTACTATACACATGATATAGTCTGTTGCTCCCAGGCTACAAACCTGTATGAGCAGGTGTTATACCGAATACTGTAGGCAGTTGTAAAACAGTGGTAAGTGTATCTAAACATAGAAAAGGTACTGTAAAAATATGGTATAAAAGATAAAAAATAGTATACCTGTATAGAGTACTTACCATGGATGGACTGGAAGTTGCTCTGGGTGAGTTAGTGGTGAGTGAATGTGAAGGTCTAGGACATTATTGTATACTAATGTAGACTTTATGTTGTATACTAATGTAGACTTTATAAACACTGTACACTTAGCCTACACTAAATTTATTTAAAAATATTTTTTCTACAATGATAAATTAACTTTAGCTTACTATAACTTTTTACTTTATAAACTTTAAAACTTTTTGGCTCTTTTGGGGTAATACTTAAAACACACAACAACATTGTACATTTGTACAAAAATAGTTTCTTTAGGTCCTTATTCTATAAGCTTTTTTCTTTTTCTTTCTTTTTTTTTTTTGGTAGAGAGACAGAGTCTCACTTTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCTACGACACCTGGCCCTTTATGCTATTCTTAAAACTTTTTATTTTTTTACTTTTAAACTTTTTTGTTAAAAACTACGATACACACACTACTACAGTGGTGGTACTAACATGTGGAATGTGTCCTTGCTGTCTTTTTTGGCATTCAGAGCTTTGTGACCCATCTAAGGTCTTTGTGACACACACACACACACACACACACACACACACACACGCACACGCACGCACGCACTGGTCTAGGCCTACACTGAGTCAAGATTATAAATATCACTGTCTTCCACCTCCTTATGGAAGGTCTTCAGTGGCAATAACATACATGGAGCTGTCATCTCCTATAACAATAGGAATACCTTCTGGAATACCTCCTGAAGGATCTGCCTGAGGCAGTTATTCTTTTTTTTAGTAAGTGGAAGGAGTACACTCTAAAATAAAGATTAAAATGTATAGCGTAGTAAATACATAAACCAGTAATGTAGTCATTTATTATCAAGTATTAAGTTCTATATATATGTAATTGTATATGCTGTACTTCTATGTGACTGGCAGCACAGTAGGTTTGTTTATACCAGCATCACTACAGATAGGTAAGTAATGCATTGCACTGTTTTGATTGCTATGACGTCACTGGGCAATAGGAATTTTTCCTCTTCATTATAATCTTAAGTGATCATCATCATTTATACAGCTGTCGACCAAAATGTCATTACAGGTGCATGAGTTTAAATGTTCCAGAAAGGTTTTATTCAGTATTAATCTTTTTATGGAATCTGAATATAATTACTGTGTTGGATTTGACTTCAGAAATGACTAGTAATGTTAAAAAATTGCTATGATTACCCATTTTTTAGTTTCTGGCTAGTGTTTTTTGGAATGGATGCTTAGGATTCCTGCCTAATGCAGTGATTTCAGGGCCAAAAGATGCTTTTGGAAGGATTGCTTGTAATCAAGCTAAAAGAGATGAAGAAGAGCTTGAGGATTTCTGTAAGGTGAATCAGGATGAGGGGAAGAAGCCTGGAAATAAACAAGATAAAGCAGAGCATAAATTCAGCTCATTAGAAACCAAAGATAAGGACCACTCACTTACTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCCCAGCTCACTGCAACCTCTGCCTTCCAGGTTCAAGCGATCCTCCTGCCTCAGCCCCCCTATT
GGCATGATCTTGGCTCATTGCAGCCTTTGTCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCCAGTAGATGGGACTACAGATGAGTGTCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGAGTTTTATTTTTTAATTTCTCTCTTACTGCAAGGTTGATCATCATGTGTATATTTAAAAACCATTTGTATTTCCCTTTCTCTGTATCTTTGGTGACATACCATATGTGTTACAAACTTGCAGGCAGACAGTGGTAGTACTAACATGCAGAATGTATCCTTGGTGTCATCTTTTTTGGTATCCAGAGCTTTGTGACCCATCTAAGGTTTTTAATTTATACCCATGGCATTTATACCTATGGCAATGCACAGAACTAATTCATACTGGTATGACAAAGATTCATACCAGTTTTTTTTTTTCTTTTTTTAAGTGGAGTTTTGCTCTTATTGCCCAGGCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCCCCGCTTTCCAGTTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTCGCTGGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTGTATTTCTAGTAGAGGTGGAGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTGCTGACCTCGTAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCCATACCAGTTTTTTTTGACACCGCTGATCCGAAGGCAGATACCAGTATGAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCGCCAAGGGTGGAGTGCAATGGCGTGACCTCGGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTGCCCGCTTCGGCCACCCAAAGTGCTGGGATTACATGCGTGAGCCACCGCGCCTGGCCACCAGTATGAATCTTGAAAGGTTCTCTTTCTTTTTCATCTGTGATAATACTTGGAAATCTTATCACACTTTTCTTAGCTTGCCTAGTTAGATTTTAGACAGGGGTTGGCAAACTTTTTCTGTAATGGGCCAACAATATTTTAGGGTTTGTAGGCCACATACAGTCTCTACATCATATTTGTTATCTTATTTTTTATAACCCTTTAGAAATAAAAAAACCACTGTTAGCTTGAGAGCTGTACAAAAATATACAGGGCCTGTAAGCCCTGTAGTTTGCAAATCCCTGTTCTAGAAGAAGTAATCACAACAAGGGAGTTGAAATTTTAAGAAACTGAATGAACTAATACTTTACTAGGCATTATTAATACTCTAGGTTTTTTTACATATGATTCTTGTCCACGTCTGCTTTTTCATTACTATTTGTTTTCTTTTTTTTTTCAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACGCACCACTACTGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTTAGGCTGATCTTGAACTCCTGACCTCATAATCTGCCTGCCTTGGTCTCCCAAAGTTTTGGGATTACAAGCATGAGCCACCGCACCTGGCCTGTCCATGTCCACTTTTTCTTAAAGACACCTGAAGAAACTTAACCACTGCTCAGAAGCATTTTTCTCCCTCTTTCAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGGATTGTGTGAATATGCTATCTATGTCCAAAGTAAGACACATACTTCTTGTCTTCTTGCTAGAGAAATACACTTTTCCTAGGTTCTTGAAAAAGATCAGGCAATTGAAGAAACAAGTTCAAGTACAGTCATGCACCACTTAACAATGGAGATATGTTCTAAGAAATGTGTTGTTAGGCAATTTTGTCATTGTGTGAACATTACATGGAGTGTACTTACACAAACATAGATGGATGATATAGTGTACTATACACATGATATAGTCTGTTGCTCCCAGGCTACAAACCTGTATGAGCAGGTGTTATACCGAATACTGTAGGCAGTTGTAAAACAGTGGTAAGTGTATCTAAACATAGAAAAGGTACTGTAAAAATATGGTATAAAAGATAAAAAATAGTATACCTGTATAGAGTACTTACCATGGATGGACTGGAAGTTGCTCTGGGTGAGTTAGTGGTGAGTGAATGTGAAGGTCTAGGACATTATTGTATACTAATGTAGACTTTATGTTGTATACTAATGTAGACTTTATAAACACTGTACACTTAGCCTACACTAAATTTATTTAAAAATATTTTTTCTACAATGATAAATTAACTTTAGCTTACTATAACTTTTTACTTTATAAACTTTAAAACTTTTTGGCTCTTTTGGGGTAATACTTAAAACACACAACAACATTGTACATTTGTACAAAAATAGTTTCTTTAGGTCCTTATTCTATAAGCTTTTTTCTTTTTCTTTCTTTTTTTTTTTTGGTAGAGAGACAGAGTCTCACTTTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCTACGACACCTGGCCCTTTATGCTATTCTTAAAACTTTTTATTTTTTTACTTTTAAACTTTTTTGTTAAAAACTACGATACACACACTACTACAGTGGTGGTACTAACATGTGGAATGTGTCCTTGCTGTCTTTTTTGGCATTCAGAGCTTTGTGACCCATCTAAGGTCTTTGTGACACACACACACACACACACACACACACACACACACGCACACGCACGCACGCACTGGTCTAGGCCTACACTGAGTCAAGATTATAAATATCACTGTCTTCCACCTCCTTATGGAAGGTCTTCAGTGGCAATAACATACATGGAGCTGTCATCTCCTATAACAATAGGAATACCTTCTGGAATACCTCCTGAAGGATCTGCCTGAGGCAGTTATTCTTTTTTTTAGTAAGTGGAAGGAGTACACTCTAAAATAAAGATTAAAATGTATAGCGTAGTAAATACATAAACCAGTAATGTAGTCATTTATTATCAAGTATTAAGTTCTATATATATGTAATTGTATATGCTGTACTTCTATGTGACTGGCAGCACAGTAGGTTTGTTTATACCAGCATCACTACAGATAGGTAAGTAATGCATTGCACTGTTTTGATTGCTATGACGTCACTGGGCAATAGGAATTTTTCCTCTTCATTATAATCTTAAGTGATCATCATCATTTATACAGCTGTCGACCAAAATGTCATTACAGGTGCATGAGTTTAAATGTTCCAGAAAGGTTTTATTCAGTATTAATCTTTTTATGGAATCTGAATATAATTACTGTGTTGGATTTGACTTCAGAAATGACTAGTAATGTTAAAAAATTGCTATGATTACCCATTTTTTAGTTTCTGGCTAGTGTTTTTTGGAATGGATGCTTAGGATTCCTGCCTAATGCAGTGATTTCAGGGCCAAAAGATGCTTTTGGAAGGATTGCTTGTAATCAAGCTAAAAGAGATGAAGAAGAGCTTGAGGATTTCTGTAAGGTGAATCAGGATGAGGGGAAGAAGCCTGGAAATAAACAAGATAAAGCAGAGCATAAATTCAGCTCATTAGAAACCAAAGATAAGGACCACTCACTTACTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCCCAGCTCACTGCAACCTCTGCCTTCCAGGTTCAAGCGATCCTCCTGCCTCAGCCCCCCTATT