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_21700
|
A variant was discovered on Chromosome 15, affecting BBS4 (Bardet-Biedl syndrome 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Bardet-Biedl syndrome 4
|
AGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGTCAAGTATGCTCTACTTATCTTCTAAAAGTGCACATTTGTTATAATAGACGTGTAACCCCTGCAGAAGGCAGATCATAGTGCTAGTAAAGCTTATGTGTTACTTAGGAAATTAGCAATGCCTCCACAACTATTGTCAAAAATAAATCTGCGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTCCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAATAAAAAATAAAAAAAATAAATCTGCTGGGCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGAATGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGGCTGGGCCACATAGTGAGACCCCCATTTCTACAAAAAAAATTATCCAGGCATGGTGGCACACACCTGTAGTCCTAGCCACTCGGAAGGTGGAAGAGGGAAGATCACTTGAGCCCAGGAGTTTGAGTCTACAGTGGGCTATGATGGCACCACTATACTCCAGCCTGGGTGACAGAGACCCTGTCTCTAAAAAGAAACAATAATTATGTTGAAATGACTTCTAGAGTCCTAATGATTTGATACTACAACTTTTTTTCTAGATGTGACTTTGGGAATGAGAAGGAATAGCATCAAATGGATGAACATCATTGAGGAGATGCAGCAAGACAAGCTGTTTATTAAAGGATACAAACTGAATTCTGATTTAGGAAGTAACATTAGACTGTCAGCTCCCACCTTGATACCTTTCCTTAGAGAAATGAAAGGGCTGGGCTGATGAAGCCTAAAGCTGACTCGCCCTCTGTTCTACGGTAGAAAGAAATTTACCTTAAGTAGCCACGTACAGGTGTATTTCAGGTATCTAGAACACTTGGTATACCAAATAGGGGCTGCAGAGAACAGATTAAAGGAAGTTTTTACTTAAAGGGCTCTGGTATTCATTCTGAAATACTGACTTTCCTGGCTAGAAGTAGGAAACAGATGGGTAAAGCAAGTAACATTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGCTGTGCCAGAGAGCCACAGTGTAGAGTGCAAGGACATTCCTCAGGAACATTTGTCCCAATAGGTTGGATATATTTATGTCCCTGGAAGAAATTTTCCAGTCCCATCTATGCTGATGGGCCTGCTGAGTATAGACTCAGGAAAGCTGCCCCACTGCTACAGCCTTTTGGGAATGACTGAATGACTTTCTCTGTGCCATGTTTTCAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGTGAGTGTCCCCTCATGTTCTTTGTTTGTATTTCTACATGTGGTTATTGGGTCTGTTTAGCTTGCCCTTCTCATTGAGTGCCCCTTCTCTCTCATAGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGGTAAGAAACATTTATGTGGAAAACTCTCTCTGCCATCTGTAATGAGGGAAAAATGGATTAGAATCATAGAAGATCAGTGGCTGTCTCATAGGAGCCATTCCCTTAGAGATCCTGTAGGAATCTGGATTACTGTCCTGGAGCTTGAAGAAATAGAAAAAGATGACAAAGGAACTTGGTTGTTTCTAACTTGGGGGAGTTTGACTCAGAGACCAACAGGTTAAATAAAGATCATCCCTAGTTCACCTTTTACCAGTTTTTTCCTCTTGCCTTGACAATTCATTTATGTATATATTGAGTCCAACTAAGTTCCAGACAGCAAGTGTTAAGAGCTTGGGTTTTAGGTAGGGTCCTGCCTCTACTACTTATTATATGTACCTAGGGCTGATGTGAGGATTGCATGATTAAGCTCTCAATTAATAATACTGGTTTTGTTGAAATACTGATTTTTGAAAACTGTTGGTTTTACTGTGGTTATATAATTGGTCTATTATTATCAATATTGTTGTTACTATAATTGGCCCCTAGGTGATACTTCCAAGTCAAGCTACCTTATGTTGAAACCCTTATCTCTTCTGAGCATGTTATATAGAATGCCATTCTCTTCCTGAAACTCCATTTTATGCCATGCAAATACTAAAATTGATCATAAAAATAAGTTAAAATTAATCAAACACTTTAACAATTATGCACAACCATTTTAAAGTACTGACTAGTCTTTCTAGGAATTTTTTTCTCCATATACATTTACTTACTAAATGTAAGACCCAAAGCAGATTTCCATGTCCTCATTTGGCAGTCGTCTTCCAGTGGCTTTTTGTTCATTACTGTGGGTTCTTATTTAAAAGAGAAAGCTTGCAAAAGCAATTGTGGTTATTTGAGGGTTGCCTGAATACAAAGATAACTTTAAAAAAAAAACATAGGTTTTATTATTATTCAGATATGGTATGGGCAACAGATCAGAAGACATCTGCCACTGGAAAGATAGTCTGTTACAATTCCTGAGAAGGAGGGCATGCTACACCGTGCAGGGCCACATGGGGAAGCACCAGGTCAATCAGGAGGTAGAGGGAGCAAGGGGTAAATGTGGGCACAATTCTTTATTGTAGTTTTCATGGGTAGAAATGCCCTCCCCGGGGCAAGACCGGGAAAGCAGGTTAACCAGGTTGGGGATTGGCCAGTTTGAATAATTTCAGTGGGCTCTGGGCTATAGGGCTGTCTCTAGGTGTCTGGTACCTGACCCTCGGGTGACTAGGACTAGGGAATATTGGCCCAGTGTCAGGGCCCAGTAAAGGAGGCAGTTAAGAATATGAACACTGGGTTGGTCGGTCTGCATACAGAAGGTACTCTTGTAGGGGTTATATCTAGGAATTAGCTGACTGTGGGAGGGACAGTCTCCCCAGGGTCAGTAAGGCCCCAGATGTCAAAACATCAGAATAAAAAGGCTAAAGTGGGGTGTGATGGTACATACCTGTAGTGCTGGCTACTTGGGAGGCTAAGGCAGGAAGTTTGCTTAAGCCCAGGAGTTGGGAGTACAGCCTGGGCAACACAGTGAGACTCCATTCCTCTCTCTTTTTTTAAAAATTTTATTTTAGGTTCAGGGGTACATGTGCATCCTGTTACACAGGCACGTGTGTCATGGGGATTAGTTGTACAGATTATTTCATCACCCAGGTACTAAGCCTAGTACCCAATAGTTATTTTTTTCTGGCCCTCCCCCTCCTCCAGTAAGCTCCAGTGTCTGTTTCCCTCTGTGTCTCCATGTGTTCTCATCATTTAGCTCTTATAGTGAGAACATGCAGGATTTGGTTTTCTATCCTTTATTAATTTGCTAAGGATGGTGGCCTCCAGCTCCATCTATGTTGCTGCAAAGGACACGATCTTGTTCTTTTGTATGG
|
AGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGTCAAGTATGCTCTACTTATCTTCTAAAAGTGCACATTTGTTATAATAGACGTGTAACCCCTGCAGAAGGCAGATCATAGTGCTAGTAAAGCTTATGTGTTACTTAGGAAATTAGCAATGCCTCCACAACTATTGTCAAAAATAAATCTGCGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTCCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAATAAAAAATAAAAAAAATAAATCTGCTGGGCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGAATGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGGCTGGGCCACATAGTGAGACCCCCATTTCTACAAAAAAAATTATCCAGGCATGGTGGCACACACCTGTAGTCCTAGCCACTCGGAAGGTGGAAGAGGGAAGATCACTTGAGCCCAGGAGTTTGAGTCTACAGTGGGCTATGATGGCACCACTATACTCCAGCCTGGGTGACAGAGACCCTGTCTCTAAAAAGAAACAATAATTATGTTGAAATGACTTCTAGAGTCCTAATGATTTGATACTACAACTTTTTTTCTAGATGTGACTTTGGGAATGAGAAGGAATAGCATCAAATGGATGAACATCATTGAGGAGATGCAGCAAGACAAGCTGTTTATTAAAGGATACAAACTGAATTCTGATTTAGGAAGTAACATTAGACTGTCAGCTCCCACCTTGATACCTTTCCTTAGAGAAATGAAAGGGCTGGGCTGATGAAGCCTAAAGCTGACTCGCCCTCTGTTCTACGGTAGAAAGAAATTTACCTTAAGTAGCCACGTACAGGTGTATTTCAGGTATCTAGAACACTTGGTATACCAAATAGGGGCTGCAGAGAACAGATTAAAGGAAGTTTTTACTTAAAGGGCTCTGGTATTCATTCTGAAATACTGACTTTCCTGGCTAGAAGTAGGAAACAGATGGGTAAAGCAAGTAACATTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGCTGTGCCAGAGAGCCACAGTGTAGAGTGCAAGGACATTCCTCAGGAACATTTGTCCCAATAGGTTGGATATATTTATGTCCCTGGAAGAAATTTTCCAGTCCCATCTATGCTGATGGGCCTGCTGAGTATAGACTCAGGAAAGCTGCCCCACTGCTACAGCCTTTTGGGAATGACTGAATGACTTTCTCTGTGCCATGTTTTCAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGTGAGTGTCCCCTCATGTTCTTTGTTTGTATTTCTACATGTGGTTATTGGGTCTGTTTAGCTTGCCCTTCTCATTGAGTGCCCCTTCTCTCTCATAGGCCATCAGCTGCCTGAAACCAGCCAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGGTAAGAAACATTTATGTGGAAAACTCTCTCTGCCATCTGTAATGAGGGAAAAATGGATTAGAATCATAGAAGATCAGTGGCTGTCTCATAGGAGCCATTCCCTTAGAGATCCTGTAGGAATCTGGATTACTGTCCTGGAGCTTGAAGAAATAGAAAAAGATGACAAAGGAACTTGGTTGTTTCTAACTTGGGGGAGTTTGACTCAGAGACCAACAGGTTAAATAAAGATCATCCCTAGTTCACCTTTTACCAGTTTTTTCCTCTTGCCTTGACAATTCATTTATGTATATATTGAGTCCAACTAAGTTCCAGACAGCAAGTGTTAAGAGCTTGGGTTTTAGGTAGGGTCCTGCCTCTACTACTTATTATATGTACCTAGGGCTGATGTGAGGATTGCATGATTAAGCTCTCAATTAATAATACTGGTTTTGTTGAAATACTGATTTTTGAAAACTGTTGGTTTTACTGTGGTTATATAATTGGTCTATTATTATCAATATTGTTGTTACTATAATTGGCCCCTAGGTGATACTTCCAAGTCAAGCTACCTTATGTTGAAACCCTTATCTCTTCTGAGCATGTTATATAGAATGCCATTCTCTTCCTGAAACTCCATTTTATGCCATGCAAATACTAAAATTGATCATAAAAATAAGTTAAAATTAATCAAACACTTTAACAATTATGCACAACCATTTTAAAGTACTGACTAGTCTTTCTAGGAATTTTTTTCTCCATATACATTTACTTACTAAATGTAAGACCCAAAGCAGATTTCCATGTCCTCATTTGGCAGTCGTCTTCCAGTGGCTTTTTGTTCATTACTGTGGGTTCTTATTTAAAAGAGAAAGCTTGCAAAAGCAATTGTGGTTATTTGAGGGTTGCCTGAATACAAAGATAACTTTAAAAAAAAAACATAGGTTTTATTATTATTCAGATATGGTATGGGCAACAGATCAGAAGACATCTGCCACTGGAAAGATAGTCTGTTACAATTCCTGAGAAGGAGGGCATGCTACACCGTGCAGGGCCACATGGGGAAGCACCAGGTCAATCAGGAGGTAGAGGGAGCAAGGGGTAAATGTGGGCACAATTCTTTATTGTAGTTTTCATGGGTAGAAATGCCCTCCCCGGGGCAAGACCGGGAAAGCAGGTTAACCAGGTTGGGGATTGGCCAGTTTGAATAATTTCAGTGGGCTCTGGGCTATAGGGCTGTCTCTAGGTGTCTGGTACCTGACCCTCGGGTGACTAGGACTAGGGAATATTGGCCCAGTGTCAGGGCCCAGTAAAGGAGGCAGTTAAGAATATGAACACTGGGTTGGTCGGTCTGCATACAGAAGGTACTCTTGTAGGGGTTATATCTAGGAATTAGCTGACTGTGGGAGGGACAGTCTCCCCAGGGTCAGTAAGGCCCCAGATGTCAAAACATCAGAATAAAAAGGCTAAAGTGGGGTGTGATGGTACATACCTGTAGTGCTGGCTACTTGGGAGGCTAAGGCAGGAAGTTTGCTTAAGCCCAGGAGTTGGGAGTACAGCCTGGGCAACACAGTGAGACTCCATTCCTCTCTCTTTTTTTAAAAATTTTATTTTAGGTTCAGGGGTACATGTGCATCCTGTTACACAGGCACGTGTGTCATGGGGATTAGTTGTACAGATTATTTCATCACCCAGGTACTAAGCCTAGTACCCAATAGTTATTTTTTTCTGGCCCTCCCCCTCCTCCAGTAAGCTCCAGTGTCTGTTTCCCTCTGTGTCTCCATGTGTTCTCATCATTTAGCTCTTATAGTGAGAACATGCAGGATTTGGTTTTCTATCCTTTATTAATTTGCTAAGGATGGTGGCCTCCAGCTCCATCTATGTTGCTGCAAAGGACACGATCTTGTTCTTTTGTATGG
|
Task1_train_21701
|
Here is a genetic alteration in BBS4 (Bardet-Biedl syndrome 4) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Bardet-Biedl syndrome
|
AGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGTCAAGTATGCTCTACTTATCTTCTAAAAGTGCACATTTGTTATAATAGACGTGTAACCCCTGCAGAAGGCAGATCATAGTGCTAGTAAAGCTTATGTGTTACTTAGGAAATTAGCAATGCCTCCACAACTATTGTCAAAAATAAATCTGCGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTCCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAATAAAAAATAAAAAAAATAAATCTGCTGGGCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGAATGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGGCTGGGCCACATAGTGAGACCCCCATTTCTACAAAAAAAATTATCCAGGCATGGTGGCACACACCTGTAGTCCTAGCCACTCGGAAGGTGGAAGAGGGAAGATCACTTGAGCCCAGGAGTTTGAGTCTACAGTGGGCTATGATGGCACCACTATACTCCAGCCTGGGTGACAGAGACCCTGTCTCTAAAAAGAAACAATAATTATGTTGAAATGACTTCTAGAGTCCTAATGATTTGATACTACAACTTTTTTTCTAGATGTGACTTTGGGAATGAGAAGGAATAGCATCAAATGGATGAACATCATTGAGGAGATGCAGCAAGACAAGCTGTTTATTAAAGGATACAAACTGAATTCTGATTTAGGAAGTAACATTAGACTGTCAGCTCCCACCTTGATACCTTTCCTTAGAGAAATGAAAGGGCTGGGCTGATGAAGCCTAAAGCTGACTCGCCCTCTGTTCTACGGTAGAAAGAAATTTACCTTAAGTAGCCACGTACAGGTGTATTTCAGGTATCTAGAACACTTGGTATACCAAATAGGGGCTGCAGAGAACAGATTAAAGGAAGTTTTTACTTAAAGGGCTCTGGTATTCATTCTGAAATACTGACTTTCCTGGCTAGAAGTAGGAAACAGATGGGTAAAGCAAGTAACATTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGCTGTGCCAGAGAGCCACAGTGTAGAGTGCAAGGACATTCCTCAGGAACATTTGTCCCAATAGGTTGGATATATTTATGTCCCTGGAAGAAATTTTCCAGTCCCATCTATGCTGATGGGCCTGCTGAGTATAGACTCAGGAAAGCTGCCCCACTGCTACAGCCTTTTGGGAATGACTGAATGACTTTCTCTGTGCCATGTTTTCAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGTGAGTGTCCCCTCATGTTCTTTGTTTGTATTTCTACATGTGGTTATTGGGTCTGTTTAGCTTGCCCTTCTCATTGAGTGCCCCTTCTCTCTCATAGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGGTAAGAAACATTTATGTGGAAAACTCTCTCTGCCATCTGTAATGAGGGAAAAATGGATTAGAATCATAGAAGATCAGTGGCTGTCTCATAGGAGCCATTCCCTTAGAGATCCTGTAGGAATCTGGATTACTGTCCTGGAGCTTGAAGAAATAGAAAAAGATGACAAAGGAACTTGGTTGTTTCTAACTTGGGGGAGTTTGACTCAGAGACCAACAGGTTAAATAAAGATCATCCCTAGTTCACCTTTTACCAGTTTTTTCCTCTTGCCTTGACAATTCATTTATGTATATATTGAGTCCAACTAAGTTCCAGACAGCAAGTGTTAAGAGCTTGGGTTTTAGGTAGGGTCCTGCCTCTACTACTTATTATATGTACCTAGGGCTGATGTGAGGATTGCATGATTAAGCTCTCAATTAATAATACTGGTTTTGTTGAAATACTGATTTTTGAAAACTGTTGGTTTTACTGTGGTTATATAATTGGTCTATTATTATCAATATTGTTGTTACTATAATTGGCCCCTAGGTGATACTTCCAAGTCAAGCTACCTTATGTTGAAACCCTTATCTCTTCTGAGCATGTTATATAGAATGCCATTCTCTTCCTGAAACTCCATTTTATGCCATGCAAATACTAAAATTGATCATAAAAATAAGTTAAAATTAATCAAACACTTTAACAATTATGCACAACCATTTTAAAGTACTGACTAGTCTTTCTAGGAATTTTTTTCTCCATATACATTTACTTACTAAATGTAAGACCCAAAGCAGATTTCCATGTCCTCATTTGGCAGTCGTCTTCCAGTGGCTTTTTGTTCATTACTGTGGGTTCTTATTTAAAAGAGAAAGCTTGCAAAAGCAATTGTGGTTATTTGAGGGTTGCCTGAATACAAAGATAACTTTAAAAAAAAAACATAGGTTTTATTATTATTCAGATATGGTATGGGCAACAGATCAGAAGACATCTGCCACTGGAAAGATAGTCTGTTACAATTCCTGAGAAGGAGGGCATGCTACACCGTGCAGGGCCACATGGGGAAGCACCAGGTCAATCAGGAGGTAGAGGGAGCAAGGGGTAAATGTGGGCACAATTCTTTATTGTAGTTTTCATGGGTAGAAATGCCCTCCCCGGGGCAAGACCGGGAAAGCAGGTTAACCAGGTTGGGGATTGGCCAGTTTGAATAATTTCAGTGGGCTCTGGGCTATAGGGCTGTCTCTAGGTGTCTGGTACCTGACCCTCGGGTGACTAGGACTAGGGAATATTGGCCCAGTGTCAGGGCCCAGTAAAGGAGGCAGTTAAGAATATGAACACTGGGTTGGTCGGTCTGCATACAGAAGGTACTCTTGTAGGGGTTATATCTAGGAATTAGCTGACTGTGGGAGGGACAGTCTCCCCAGGGTCAGTAAGGCCCCAGATGTCAAAACATCAGAATAAAAAGGCTAAAGTGGGGTGTGATGGTACATACCTGTAGTGCTGGCTACTTGGGAGGCTAAGGCAGGAAGTTTGCTTAAGCCCAGGAGTTGGGAGTACAGCCTGGGCAACACAGTGAGACTCCATTCCTCTCTCTTTTTTTAAAAATTTTATTTTAGGTTCAGGGGTACATGTGCATCCTGTTACACAGGCACGTGTGTCATGGGGATTAGTTGTACAGATTATTTCATCACCCAGGTACTAAGCCTAGTACCCAATAGTTATTTTTTTCTGGCCCTCCCCCTCCTCCAGTAAGCTCCAGTGTCTGTTTCCCTCTGTGTCTCCATGTGTTCTCATCATTTAGCTCTTATAGTGAGAACATGCAGGATTTGGTTTTCTATCCTTTATTAATTTGCTAAGGATGGTGGCCTCCAGCTCCATCTATGTTGCTGCAAAGGACACGATCTTGTTCTTTTGTATGG
|
AGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGTCAAGTATGCTCTACTTATCTTCTAAAAGTGCACATTTGTTATAATAGACGTGTAACCCCTGCAGAAGGCAGATCATAGTGCTAGTAAAGCTTATGTGTTACTTAGGAAATTAGCAATGCCTCCACAACTATTGTCAAAAATAAATCTGCGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTCCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAATAAAAAATAAAAAAAATAAATCTGCTGGGCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGAATGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGGCTGGGCCACATAGTGAGACCCCCATTTCTACAAAAAAAATTATCCAGGCATGGTGGCACACACCTGTAGTCCTAGCCACTCGGAAGGTGGAAGAGGGAAGATCACTTGAGCCCAGGAGTTTGAGTCTACAGTGGGCTATGATGGCACCACTATACTCCAGCCTGGGTGACAGAGACCCTGTCTCTAAAAAGAAACAATAATTATGTTGAAATGACTTCTAGAGTCCTAATGATTTGATACTACAACTTTTTTTCTAGATGTGACTTTGGGAATGAGAAGGAATAGCATCAAATGGATGAACATCATTGAGGAGATGCAGCAAGACAAGCTGTTTATTAAAGGATACAAACTGAATTCTGATTTAGGAAGTAACATTAGACTGTCAGCTCCCACCTTGATACCTTTCCTTAGAGAAATGAAAGGGCTGGGCTGATGAAGCCTAAAGCTGACTCGCCCTCTGTTCTACGGTAGAAAGAAATTTACCTTAAGTAGCCACGTACAGGTGTATTTCAGGTATCTAGAACACTTGGTATACCAAATAGGGGCTGCAGAGAACAGATTAAAGGAAGTTTTTACTTAAAGGGCTCTGGTATTCATTCTGAAATACTGACTTTCCTGGCTAGAAGTAGGAAACAGATGGGTAAAGCAAGTAACATTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGCTGTGCCAGAGAGCCACAGTGTAGAGTGCAAGGACATTCCTCAGGAACATTTGTCCCAATAGGTTGGATATATTTATGTCCCTGGAAGAAATTTTCCAGTCCCATCTATGCTGATGGGCCTGCTGAGTATAGACTCAGGAAAGCTGCCCCACTGCTACAGCCTTTTGGGAATGACTGAATGACTTTCTCTGTGCCATGTTTTCAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGTGAGTGTCCCCTCATGTTCTTTGTTTGTATTTCTACATGTGGTTATTGGGTCTGTTTAGCTTGCCCTTCTCATTGAGTGCCCCTTCTCTCTCATAGGCCATCAGCTGCCTGAAACCAGCCAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGGTAAGAAACATTTATGTGGAAAACTCTCTCTGCCATCTGTAATGAGGGAAAAATGGATTAGAATCATAGAAGATCAGTGGCTGTCTCATAGGAGCCATTCCCTTAGAGATCCTGTAGGAATCTGGATTACTGTCCTGGAGCTTGAAGAAATAGAAAAAGATGACAAAGGAACTTGGTTGTTTCTAACTTGGGGGAGTTTGACTCAGAGACCAACAGGTTAAATAAAGATCATCCCTAGTTCACCTTTTACCAGTTTTTTCCTCTTGCCTTGACAATTCATTTATGTATATATTGAGTCCAACTAAGTTCCAGACAGCAAGTGTTAAGAGCTTGGGTTTTAGGTAGGGTCCTGCCTCTACTACTTATTATATGTACCTAGGGCTGATGTGAGGATTGCATGATTAAGCTCTCAATTAATAATACTGGTTTTGTTGAAATACTGATTTTTGAAAACTGTTGGTTTTACTGTGGTTATATAATTGGTCTATTATTATCAATATTGTTGTTACTATAATTGGCCCCTAGGTGATACTTCCAAGTCAAGCTACCTTATGTTGAAACCCTTATCTCTTCTGAGCATGTTATATAGAATGCCATTCTCTTCCTGAAACTCCATTTTATGCCATGCAAATACTAAAATTGATCATAAAAATAAGTTAAAATTAATCAAACACTTTAACAATTATGCACAACCATTTTAAAGTACTGACTAGTCTTTCTAGGAATTTTTTTCTCCATATACATTTACTTACTAAATGTAAGACCCAAAGCAGATTTCCATGTCCTCATTTGGCAGTCGTCTTCCAGTGGCTTTTTGTTCATTACTGTGGGTTCTTATTTAAAAGAGAAAGCTTGCAAAAGCAATTGTGGTTATTTGAGGGTTGCCTGAATACAAAGATAACTTTAAAAAAAAAACATAGGTTTTATTATTATTCAGATATGGTATGGGCAACAGATCAGAAGACATCTGCCACTGGAAAGATAGTCTGTTACAATTCCTGAGAAGGAGGGCATGCTACACCGTGCAGGGCCACATGGGGAAGCACCAGGTCAATCAGGAGGTAGAGGGAGCAAGGGGTAAATGTGGGCACAATTCTTTATTGTAGTTTTCATGGGTAGAAATGCCCTCCCCGGGGCAAGACCGGGAAAGCAGGTTAACCAGGTTGGGGATTGGCCAGTTTGAATAATTTCAGTGGGCTCTGGGCTATAGGGCTGTCTCTAGGTGTCTGGTACCTGACCCTCGGGTGACTAGGACTAGGGAATATTGGCCCAGTGTCAGGGCCCAGTAAAGGAGGCAGTTAAGAATATGAACACTGGGTTGGTCGGTCTGCATACAGAAGGTACTCTTGTAGGGGTTATATCTAGGAATTAGCTGACTGTGGGAGGGACAGTCTCCCCAGGGTCAGTAAGGCCCCAGATGTCAAAACATCAGAATAAAAAGGCTAAAGTGGGGTGTGATGGTACATACCTGTAGTGCTGGCTACTTGGGAGGCTAAGGCAGGAAGTTTGCTTAAGCCCAGGAGTTGGGAGTACAGCCTGGGCAACACAGTGAGACTCCATTCCTCTCTCTTTTTTTAAAAATTTTATTTTAGGTTCAGGGGTACATGTGCATCCTGTTACACAGGCACGTGTGTCATGGGGATTAGTTGTACAGATTATTTCATCACCCAGGTACTAAGCCTAGTACCCAATAGTTATTTTTTTCTGGCCCTCCCCCTCCTCCAGTAAGCTCCAGTGTCTGTTTCCCTCTGTGTCTCCATGTGTTCTCATCATTTAGCTCTTATAGTGAGAACATGCAGGATTTGGTTTTCTATCCTTTATTAATTTGCTAAGGATGGTGGCCTCCAGCTCCATCTATGTTGCTGCAAAGGACACGATCTTGTTCTTTTGTATGG
|
Task1_train_21702
|
This is a variant in HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4), located on Chromosome 15. Is this mutation a likely cause of disease or not?
|
Pathogenic; Sick sinus syndrome 2, autosomal dominant
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ACTCCCACCCCTGCCCAGCCCCGGAGACCCCATCTGCCTTTCTCTGGCTTTTGCATTTGGGACCTGCCTGCTCCCTCCTCCCTCCCCCTCCCTCCCTCTAGTGCTGAGTATTAAAATAGTCTATAAAAGCAAGTGACCAAAAATCTATAGCTCTAAGAATACCTGGTTATTTTCTGCTGTCTTTTGTTTTTCTGGTGTGTGTGGTTTTTTAAATAATTATTACTGTTATTGGTATATCTCCTAATCACAGTTAAACCTGAAGGAAGAAGGAAGGGAGAGAAAAGAAGAAAGAAGAGGGAAGGAAGGGCCCAGCTCATAGATTGGATGGCAGTTTGGAGCGCACTGGCTCAGGCCTGGCCCCAGGTTCCCTCTGGGGTCCAGCAGTCAGAGGGGGCCCCCCAGAAGAGGTGGCTCTTGCCCCAAACAAAGACAGAGGGGGTGGCAAAGAACCTGAGGATGTCTTCCGAGGCAGAGTGACGTGCTGGCCGGGGATGGCACCATAGGGCCTCCCAGGGGGACCGAGGCCCCCGCTGCTCCCACTGCCCCCGCTGCCACCCCCAGCCCTGGGGAAGAGCGGGAAGGCAGCCATGGACTCCCCTGAGGAGTGCGGGGAGGCTCTGCGGAGAGTCTGCGCCCCGTCCTGAGGCAGGGCTGGCTGAGACGCGGAGATGAGCTTGAGGTCCTGGGTGAGGCGGCCGGGGGTGAGCGGGGGTGTGCCCCGGCGCTGGGGGACCTGGGGTGGTGGGGGGCTGGATGCAGGTGGCAGGAGCAAGGATCCGTGGGAGCCAGAGGCCCGGGGCGGGGCACTCGGGAAGGTTCTTGGGGGGCCTGGGCTGTGGCCAGGGGGGCTGAGACCTCCTCGGGGAGTAAAGCCTACAGGGGAAGCCCCCCCAGAGGCCCCTGCCACAAGGGACGGCGGCTCAGGCTGCCGTGGGGGTGTCTCTGGCGTGCTCAGTGGGCCAGTGGCCAGACCTAGGGACAACTCCCCGGGAGGCTGGCCCAGCTGCCCGGGGCTAGATGACGGGGATCTGGATGAGGGTGGGGGTGGCAGGAAGTGCTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCC
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ACTCCCACCCCTGCCCAGCCCCGGAGACCCCATCTGCCTTTCTCTGGCTTTTGCATTTGGGACCTGCCTGCTCCCTCCTCCCTCCCCCTCCCTCCCTCTAGTGCTGAGTATTAAAATAGTCTATAAAAGCAAGTGACCAAAAATCTATAGCTCTAAGAATACCTGGTTATTTTCTGCTGTCTTTTGTTTTTCTGGTGTGTGTGGTTTTTTAAATAATTATTACTGTTATTGGTATATCTCCTAATCACAGTTAAACCTGAAGGAAGAAGGAAGGGAGAGAAAAGAAGAAAGAAGAGGGAAGGAAGGGCCCAGCTCATAGATTGGATGGCAGTTTGGAGCGCACTGGCTCAGGCCTGGCCCCAGGTTCCCTCTGGGGTCCAGCAGTCAGAGGGGGCCCCCCAGAAGAGGTGGCTCTTGCCCCAAACAAAGACAGAGGGGGTGGCAAAGAACCTGAGGATGTCTTCCGAGGCAGAGTGACGTGCTGGCCGGGGATGGCACCATAGGGCCTCCCAGGGGGACCGAGGCCCCCGCTGCTCCCACTGCCCCCGCTGCCACCCCCAGCCCTGGGGAAGAGCGGGAAGGCAGCCATGGACTCCCCTGAGGAGTGCGGGGAGGCTCTGCGGAGAGTCTGCGCCCCGTCCTGAGGCAGGGCTGGCTGAGACGCGGAGATGAGCTTGAGGTCCTGGGTGAGGCGGCCGGGGGTGAGCGGGGGTGTGCCCCGGCGCTGGGGGACCTGGGGTGGTGGGGGGCTGGATGCAGGTGGCAGGAGCAAGGATCCGTGGGAGCCAGAGGCCCGGGGCGGGGCACTCGGGAAGGTTCTTGGGGGGCCTGGGCTGTGGCCAGGGGGGCTGAGACCTCCTCGGGGAGTAAAGCCTACAGGGGAAGCCCCCCCAGAGGCCCCTGCCACAAGGGACGGCGGCTCAGGCTGCCGTGGGGGTGTCTCTGGCGTGCTCAGTGGGCCAGTGGCCAGACCTAGGGACAACTCCCCGGGAGGCTGGCCCAGCTGCCCGGGGCTAGATGACGGGGATCTGGATGAGGGTGGGGGTGGCAGGAAGTGCTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACTCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCC
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Task1_train_21703
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The gene HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Left ventricular noncompaction cardiomyopathy
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GACAACTCCCCGGGAGGCTGGCCCAGCTGCCCGGGGCTAGATGACGGGGATCTGGATGAGGGTGGGGGTGGCAGGAAGTGCTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATCTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCCCAGCAGCAATCAGAAACGGGGCAGCCTGTTTGCATCTATGTGTGCTCCAAAGAGGTGGGAACGCACAACTGCTGCACAGAAACACCCACGGGCAAATGAGGGCTGAGAAATGACATTTCCTAAACTTCTTCCAGCCACCCTGGCCTCTGACTGCTCCAAGTTATGCAAAGTCCCAGGGGACAGTGACTTCCTGGCTGGTTACAGAGATGGAGGCAGCTGGAAAACCTGGAGCTGTGTTTTAGAGAGTCCCTCCCCTGACCCCCAGAGAACAGGTAGGGGTAGGGAGGCAGGGTCTGGACATGGGGCAGGAGTTAAAAGGTTGAAGTGGTCCAGGTGAGAGACAGACGTGGGGATGGAGAGGAGGGAAGACATTTAAGAGAAATTTATTGGGCAGACTTAGATATTAGCCAAAGGACAAACATTTTAAAGTCTCAAATGAAAAGCCACAGACGCCTTGACTCTGGCCCTAAAATAAACTCTGATGCATTTTCTTTTCTTTTTTTCTTTTTATTTATTTATTTATTTATTTATTTTTTTTGTTAAGACAGGGTCTCGTTGTGTTGCCTAGACTGGAGTGCAGTGATATGAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATTCTCCCATCTCAGCCTCCTAAACAGCTGGCACTATAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTTGCCACGTTGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGAAATCAGCTCGCTTCAGCCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCATCATGCCCAGCCTCCCAGACGCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGGGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCT
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GACAACTCCCCGGGAGGCTGGCCCAGCTGCCCGGGGCTAGATGACGGGGATCTGGATGAGGGTGGGGGTGGCAGGAAGTGCTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTGGTGGCAGCGGCAGCCTGCAGTGGTGCCTGGATCAGCGGGGTCCAGATGACGGGCGTGGGGGTTGGGGTGGCAGAGGCAGCAGCCTGGACGCGGTGCGCGCAGTGGGCCATCTCCCGGTCATGCTGCACAATCTGCTGGATGATCTCATTCTCCTGGTAGTTGAAGACGCCGGAGTTGAGGTCGTGCTGGACTTTGTGGAGGAGGATGGAGTTCTTCTTGCCTGGGCCACAGAACAAGAACAGGCACTCAGGGCAGAGCGGGGAAGGAGATCAGGTGCAGACCTGGCTTAGGCATAAAGGAGCCCTGCCCTCCTCCCCCAACACCCCCCACCTGCCCCGCCTGTGGCCCCTCCCCCTCACCAATGCGGTCCAGGCGGTCCAGCGCCACGGTCTCGAAGGCCCTTCGCATCATGGGGTACTCCTCCAGCACCTCATTGAAGTTGTCCACGCTCAGCGAGTAGAGGCGGCAGTAGGTGTCGGCCCTCACGCTGGCTGTGCGCCGGCCCCGGGTCAGCAGGCAGATCTCTGCCAGAGCATCAGGACTCAGGATGAGGCATGCACAGCCTGCCCAGGCCAGGGGGACTGCCCACCCTGACCTTGGCCCTGACTGCCTGGCACAGAAGCCTTGGCAGGCTCACAAGGCCCTGCCCCCAGACTGCGGCCACACTGGATGCCTCTTCCCCACCAAATGGGGGCTGGACAGACTTTCCCATCTTTGGGACATACCCTCTGCTCTGGACTGAATGTGTTCCCCCAAAATTTATATGTTGAACCCCTAATCCCAGCATGATGGTATTTGGAGGTGGGGCCTAGGGAGGTGATTAGATCACGAGGGTGGAGCCCTCGTGGATGGAATTAGTGCCTTTTTAGGAGGAGGCCGGGGAGCTGGCTCATCCTCCTTCTGCCACATGAGGACACAGCGAGAAGTCAGCAGTGCAGCCCAGAAGAGGGCCCTCACCAGCCCCAACCATGCTGGCCCCCTCAGCTCAGATGGCCAGCCTCCAGAACCATGACACATACATTTCTGCAGTTTACAAGCCACCCAGTCTGCGGCACTTTTGTTACAAGAACCCAGACTGACTAAGACACCCCTACCCTGGGCTCACAGACACCTCCCTCCAGGCTGTGGCCAAGAAGGGTGCTCACTGCCTCTGTCCCCTCGGTATCTCCCCAAACCAGCCCCTGGGAGCAGCTGCCCTGTCCCCCAGGGCCCAGGGCTGCCTCACCTCCAAAGTAGGAGCCGTCGGCCAGCTTGGTCTCCTTGTTGCCCTTGGTGAGCACGCTGACCACGCCATGCTGGATGAAGTACATCTTCTTGCCAATGGTGCCTTCCCGGATGATGTAGTCCCCAGGCTGGAAGACCTCGAAACGCAGCTTGGTCAGCATGGACGTCACGAAGTTGGGGTCCGCATTGGCAAACAGTGGCATGGAGGCCACCAGCTTCCGACAGTTAAAGTTGATGATGTCCTGCCGGACAGGGTGGATTGGGACACGGGAAGGAGGTGGTGAGGGGAGCTGGCTGCCAGGAAGGCCTGGCTCCCCTCCACGCCGGGCCGCCACACAGCTCACCTCCCGCAGGGGCTCGCTTAGCTCGCCCAGGATGCTCTCCTCGTCGAACATCTTGCCCTGGTAGCGGTGCTCGTAGTAGTCGTGGATGCGCTGCCGGGTGTCGGGCGGGAGCTTGTGAAAGGACATGTACTGCTCCACCTGCTTGTACTGAGGCCGGGAGAAGGGGGCGTCAGCTCCACCCCACCAGGGGGCGTCAGCAGCCAGCCCCACCACCTCGGCAGGCACCACATCCGGGCACCCACCCCGGGGGATTTCCTGGCTAAACTTGGTTCCTTGAGATCTGAGGTCTACAGTGTGGAAATGACCTCACTGTGCTCAAAACAACTGCCCGGGCTCCCAGCTGCTTGGCATGGAGGAGGGGCCCCCACCAGCATCTGCTCCTCGCTGTGTTCAATACTAAGGAGGTGGGTGAGGGCGGCAGGGAATGTCCAAAGCCCAGTGACAGGACATCAACTGTATCTCCAGGGAGGTCGATCACATTTCCTTGGAATGTTACACTGGGGACAGGGAGGCCTCACCGACTCTGCGGGGAAAGAAGCTGTTTCCTCCCAGCAGTGACAACTGGCACAGTCAGGAGGCAAGGGTGCGATGGATCAGAACGCTCAGAGGCAGAAGCAAGGATGCCTGGCTGCTCGATGCTATGAATCCAAACGTGGCCTCAGCTGAGACCCCGGGTCATTTCGTTGAGAGCAACTCCAGGTAAGGGAAAAGCAGGGTAGACTAATTTGAGGGGACCTTCAAATAGAGGCTCGGGTACAAAAGATTTGTGAGCCTCAGACCCTGGGGCTCAAACAAATAAGAAACGATCCTGCCCGCCCTCACTGAGAGGAGTGGACATTGCTCCCACCATCCTAGATTGTGGGTGGACAGTGGGATTCCCAAGAGCAGGATGAGGGATGGGAGGTATTGATTAGGCAACAACACAGACTCCTCCCGGATGGGAAGTAGAGGAAGTCCCTATCACCCCAGCAGCAATCAGAAACGGGGCAGCCTGTTTGCATCTATGTGTGCTCCAAAGAGGTGGGAACGCACAACTGCTGCACAGAAACACCCACGGGCAAATGAGGGCTGAGAAATGACATTTCCTAAACTTCTTCCAGCCACCCTGGCCTCTGACTGCTCCAAGTTATGCAAAGTCCCAGGGGACAGTGACTTCCTGGCTGGTTACAGAGATGGAGGCAGCTGGAAAACCTGGAGCTGTGTTTTAGAGAGTCCCTCCCCTGACCCCCAGAGAACAGGTAGGGGTAGGGAGGCAGGGTCTGGACATGGGGCAGGAGTTAAAAGGTTGAAGTGGTCCAGGTGAGAGACAGACGTGGGGATGGAGAGGAGGGAAGACATTTAAGAGAAATTTATTGGGCAGACTTAGATATTAGCCAAAGGACAAACATTTTAAAGTCTCAAATGAAAAGCCACAGACGCCTTGACTCTGGCCCTAAAATAAACTCTGATGCATTTTCTTTTCTTTTTTTCTTTTTATTTATTTATTTATTTATTTATTTTTTTTGTTAAGACAGGGTCTCGTTGTGTTGCCTAGACTGGAGTGCAGTGATATGAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATTCTCCCATCTCAGCCTCCTAAACAGCTGGCACTATAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACAGGGTTTTGCCACGTTGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGAAATCAGCTCGCTTCAGCCTCTCAAAGTGCTGGGATTGCAGGCATGAGCCATCATGCCCAGCCTCCCAGACGCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGGGTGCAGTGGTGCAATCTTAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCT
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Task1_train_21704
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This genomic variant is located on Chromosome 15, within the HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Brugada syndrome 8
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CTCCCTAGGAGGTAGAGAAGGGTCCTCTAACCTAGGACCCTGTGTTCTAGCCAGGCTAATTTCTCTGCCACCACCCCTATGCTCATCCTCATCCTGATGCCTGGCCTAGAATTCTCTTCCACCTTCTCCTTCCTCTGCTTCCCCACAGTGAGCTCTCCTTGCCTCCCAGCTCTGTAGGCTCTCCTGAGCTCTCTTCTTGGCATCATGGGACCTGGACCTCCACACCTGGGTGGCCCCCACCTGTCAGTCACCCCACCAAAGGACAGTGCCTGGGACAGGCAGGCAGGCAGTGAATCCACAAATGCTGACCCTACTGTGTGCCAGGCATGGGGCATAAAACAGAAAACGACATACTGGGTCCTCCCCTCATGGAGCCGTGGCCTGGAGAGGGAAGGTGGGTTTGTTAAACAGATGGCTGCCTATGGTTAATTACATCACCACAGAGTGCCGAGTGTGGTGAAGGAGGAGAGGGTGCCATGGGGTCACATGACAGGTGAGGGGCTGGCCAGGTCACAGACGGCTTCTCTAAGTGGTGAGGCTGGACGTGGAGAGGGTGTCAGGTGGACACCTGGGGAGGAGAGTTGAGGGTGAAAGCCCGTGTCTGGGTCCCATGGCAGGAGCAGGCATGGGGAGAGAAGTCTGGCCAGGCTGAAATAAAGGGTGCAAGGCCCAGGGCAGGAGCTGAGCATGAGGGCAGATCCCTGGTTATGCTCCTCAAATGCCAGGCTGGGAAAACATGCTGAGGAGTTAATCTACATCTTCAGAGCAACGTGAAGTCCCTGAAGAGTTTCAAGCAGAGGATGAGGCTGACGTGTTTTAGATGCCGCTCCAACTGCTGTGTGAGGTGTGCAGTGGAAGGTGCCAGGGCAGAACCTGCTTAGCTGATAAACACAGGGGAGCTTACTTGCAACCCCCACAGCCTGATGCCCAGTACCACCCCCGCCCTGCAGATGAGGAAACGGGGCCTCACGCTGTGGAGGCACAGGCCCACGCTCAAACAGAGCTCGGCAGCAGAGAAGCTGGGGTAGGGCCCAGGTGGCCTGACTCCAGGCCACAGGACTCATTCTCTGTGGTGAGGGGGCTGCTGTTGAGACCCCAGGGAGAGATGAAGCTGGGGACGGGGGAAGGTGGTTGGGATGCAGAGAAGGAGCTGTGGCTTTGAGGTAGGCATTGATGACAGAGAGAGGCCAGGGATGGCTCCTAGTCTCTGGCCTGGGCATCTGGGAAGAGCAGAGACTTGGAGTAGAGAGAACAGGGCAGCCTTCTCATTACAGACATGAGGGGCGTGGGGTGTCCAGAGAGGGATGAAATAAACCACCTGGAGCTGAGAGATGAGGTGGGGCTGCTGATGCTGTGCAGGCCCCACTGTGCAAAGATGGGCACAGAGCCTGTGGGCCTGGGTGGTGAAACCACAGCACCGGGGCCCCAGACAGAGGGAGGGTCAGGGGCGAGGCCCGGGCCACTGGGGACTCCAGTGGCAGTGACTGGGAAGAGAAGCCAGCAAATGGGGGCAGGGGACTGGCCAGAGGGGCAGGAGCAACACCGCGAGAGTGCGGTCCTGGAGAACGAGTGAGCAGCCAGGAAGGGCGTGGTGACTGTCAAATGCCTACTGGAGCAGCACGGAGGGCACAGGGCCTCAGCCAGGAGCCACAGGCCCCAGTGACACTGGAGACGGGGAAGGTGGGAACAGAAAAAAAGACATGTGGAGGGGCCAGGCCAGGGAGCTGAAACTCAGATTCTCATCTCAGAGGTGTCTCCCTCCTCCTGCTCTTCCCTCACACTGGGAGTTCCGATCCTGTGGGGTGGGAGCAGGGGGCGGTTCCTGCTGGGGGCCCACTGGCTGGTGGCCTGTGCTCCCTCTTGGGAGGGACCAATGTGCGGGTGCTCCCTGGGTAGACCTACCTTTTCCTGGTACTGGCGCCGGGAGGAGTCCAGGGACTGGATGAGGGCAGTGGCGTGGCCAATGAACATGGCGTAGCAGGTGGCACCCACGATCATGCTGAGCATGGTGAGCCAGACGTCGGACATGCCCACGGGCGCCTGCCGCCCGTAGCCGATGCACAGCATGTGGCTCATGGCCTTGAAGAGCGCGTAGGAGTACTGCTTCCCCCAGGAGTTGTTCTGTGGACAGACGGATGGGTGGGGACAGTGGATGAGAGGGAAGGCCCTTCTCACTAGCAAGAAAAGGCCCTGCCACCTCCTCACCTCAACCTAACTTTCTCAGTGGCTGGGCCCAGGGCTCCCTAACCTTGCTGTTGGCTGAAAGCCTTGGGTGAGAAGCAGCCTGTGCTGCCAGCGAGTCCTCCTCTTGTGCCTTCCTCTTGCAATGGGGGCAGAGATCAGACTGGAAGCCCCAGTAAAGGTACGGGAGCCAGCGTGGCCCAGCCCCCATGGGGCAGCTTGGAGCCTCCTGGCTGGGTAGCAAAGGCCCCGGGCTGAGCCACCGTGCTGTCCTTCCCTTGCTAAAACAGCTCCACCCCCCAACCCCCTAAACAGCTGCCAAGTGAAGCCCATTTCCCCACTGACCTCAATTATAAAACCAGATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCCTGCCACCCTCACATAGAGAGGACACTGCCCCAGATGAGGGCCCATTGAACCTGACGAATGCCAGCACTGGCCACCTCCCTGGTGTCTTTCTGCTCACAGGGCAGATGCATGAGCCACAGTGCAGAAACCTACCCAGGCCCACAGAGCACCTGCCAGAGGCCCAGCCCCCAGGGGAAGGCGCAGGAGCCCGTGAGCTTCGAGCCATATTCAAGGTCAGCCAGACTGCCCTGAACAGAGCTGAGCTGGCTCCTTGGGTCTGATGGCTCAGTCTAGACTGGAGTGGGGACCAGGAGGGCTCATCCCCAGGGGTGGAAGAGACCTGGGTTCCCAGCCTTGGGGAACAGGGGTAGGCCCCCAGCGGCCTTTACTGCTGAGCCTCTGGGAACAGGGAATTCAATCCATATGGCTGATTCATTTACACTTAGCTCATCAAAAGGCTGTTTTGTAAAGGCCTGTTTGATGCTGAAAGATGCCTCAGGGTCTCTTTCACCTCTTTCAAAGCCAATTTTTCCTCCCCTGGGGCCCTGGGAATTTGCCTTCAGAACAAACCAAACTGACTGGGAGGAAGCCTGGGAGAGGCAGGGGTTCACCAGAGACACAGAAAGGCTCACAGATCCAGGGTGTCTTCTGTCCTGCCTGGAACCCACCTCATCCACAGGGGGACTGGAAACTCTGCCCTATGGCTTCCGAGGCCCCAAGTTCAACTTCTCTCACCCACCCTGACCCACTTGCAAGGTTGGAGGGATAGGGTGGGGTCAGGCTTCATCCTGCCTGCCCTCCCTATCGGGACTCCACCTCGGATCAGGATATGTTGGCGAGTGGGGGCAGCCCAGCTCTGCTGTTGGAGTAGAAAGTGACCACATATGACCTGGGAGTCTGCGTGGGCTGCAAATAGTACCCTTGAAGGCGTCTGTTTTCTTGGGCTCAGCTTTTTGTTTTTTATTTTTATTTATTTATTCCTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGAAGTACAAGCGAGCTCAAGGGATCCCCCTGTACAGCCGGGACACATGTGCTTGCCACCACACCAGCTAGTTTTTTAAAAATAAATTTTATTTATTTGTTGAAGTCAGGGGTCTCCCTATGCCGCTCAGGCTGGTTTACAATTCCTGGGCTGAAGGGATCCCCCTGCCTCGGCCTCCTAAAGCACTGGGATTACTGGTATGAGCCACTGCACCCAGCCTCAGGCTCAGCTTTTAAGGACT
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CTCCCTAGGAGGTAGAGAAGGGTCCTCTAACCTAGGACCCTGTGTTCTAGCCAGGCTAATTTCTCTGCCACCACCCCTATGCTCATCCTCATCCTGATGCCTGGCCTAGAATTCTCTTCCACCTTCTCCTTCCTCTGCTTCCCCACAGTGAGCTCTCCTTGCCTCCCAGCTCTGTAGGCTCTCCTGAGCTCTCTTCTTGGCATCATGGGACCTGGACCTCCACACCTGGGTGGCCCCCACCTGTCAGTCACCCCACCAAAGGACAGTGCCTGGGACAGGCAGGCAGGCAGTGAATCCACAAATGCTGACCCTACTGTGTGCCAGGCATGGGGCATAAAACAGAAAACGACATACTGGGTCCTCCCCTCATGGAGCCGTGGCCTGGAGAGGGAAGGTGGGTTTGTTAAACAGATGGCTGCCTATGGTTAATTACATCACCACAGAGTGCCGAGTGTGGTGAAGGAGGAGAGGGTGCCATGGGGTCACATGACAGGTGAGGGGCTGGCCAGGTCACAGACGGCTTCTCTAAGTGGTGAGGCTGGACGTGGAGAGGGTGTCAGGTGGACACCTGGGGAGGAGAGTTGAGGGTGAAAGCCCGTGTCTGGGTCCCATGGCAGGAGCAGGCATGGGGAGAGAAGTCTGGCCAGGCTGAAATAAAGGGTGCAAGGCCCAGGGCAGGAGCTGAGCATGAGGGCAGATCCCTGGTTATGCTCCTCAAATGCCAGGCTGGGAAAACATGCTGAGGAGTTAATCTACATCTTCAGAGCAACGTGAAGTCCCTGAAGAGTTTCAAGCAGAGGATGAGGCTGACGTGTTTTAGATGCCGCTCCAACTGCTGTGTGAGGTGTGCAGTGGAAGGTGCCAGGGCAGAACCTGCTTAGCTGATAAACACAGGGGAGCTTACTTGCAACCCCCACAGCCTGATGCCCAGTACCACCCCCGCCCTGCAGATGAGGAAACGGGGCCTCACGCTGTGGAGGCACAGGCCCACGCTCAAACAGAGCTCGGCAGCAGAGAAGCTGGGGTAGGGCCCAGGTGGCCTGACTCCAGGCCACAGGACTCATTCTCTGTGGTGAGGGGGCTGCTGTTGAGACCCCAGGGAGAGATGAAGCTGGGGACGGGGGAAGGTGGTTGGGATGCAGAGAAGGAGCTGTGGCTTTGAGGTAGGCATTGATGACAGAGAGAGGCCAGGGATGGCTCCTAGTCTCTGGCCTGGGCATCTGGGAAGAGCAGAGACTTGGAGTAGAGAGAACAGGGCAGCCTTCTCATTACAGACATGAGGGGCGTGGGGTGTCCAGAGAGGGATGAAATAAACCACCTGGAGCTGAGAGATGAGGTGGGGCTGCTGATGCTGTGCAGGCCCCACTGTGCAAAGATGGGCACAGAGCCTGTGGGCCTGGGTGGTGAAACCACAGCACCGGGGCCCCAGACAGAGGGAGGGTCAGGGGCGAGGCCCGGGCCACTGGGGACTCCAGTGGCAGTGACTGGGAAGAGAAGCCAGCAAATGGGGGCAGGGGACTGGCCAGAGGGGCAGGAGCAACACCGCGAGAGTGCGGTCCTGGAGAACGAGTGAGCAGCCAGGAAGGGCGTGGTGACTGTCAAATGCCTACTGGAGCAGCACGGAGGGCACAGGGCCTCAGCCAGGAGCCACAGGCCCCAGTGACACTGGAGACGGGGAAGGTGGGAACAGAAAAAAAGACATGTGGAGGGGCCAGGCCAGGGAGCTGAAACTCAGATTCTCATCTCAGAGGTGTCTCCCTCCTCCTGCTCTTCCCTCACACTGGGAGTTCCGATCCTGTGGGGTGGGAGCAGGGGGCGGTTCCTGCTGGGGGCCCACTGGCTGGTGGCCTGTGCTCCCTCTTGGGAGGGACCAATGTGCGGGTGCTCCCTGGGTAGACCTACCTTTTCCTGGTACTGGCGCCGGGAGGAGTCCAGGGACTGGATGAGGGCAGTGGCGTGGCCAATGAACATGGCGTAGCAGGTGGCACCCACGATCATGCTGAGCATGGTGAGCCAGACGTCGGACATGCCCACGGGCGCCTGCCGCCGGTAGCCGATGCACAGCATGTGGCTCATGGCCTTGAAGAGCGCGTAGGAGTACTGCTTCCCCCAGGAGTTGTTCTGTGGACAGACGGATGGGTGGGGACAGTGGATGAGAGGGAAGGCCCTTCTCACTAGCAAGAAAAGGCCCTGCCACCTCCTCACCTCAACCTAACTTTCTCAGTGGCTGGGCCCAGGGCTCCCTAACCTTGCTGTTGGCTGAAAGCCTTGGGTGAGAAGCAGCCTGTGCTGCCAGCGAGTCCTCCTCTTGTGCCTTCCTCTTGCAATGGGGGCAGAGATCAGACTGGAAGCCCCAGTAAAGGTACGGGAGCCAGCGTGGCCCAGCCCCCATGGGGCAGCTTGGAGCCTCCTGGCTGGGTAGCAAAGGCCCCGGGCTGAGCCACCGTGCTGTCCTTCCCTTGCTAAAACAGCTCCACCCCCCAACCCCCTAAACAGCTGCCAAGTGAAGCCCATTTCCCCACTGACCTCAATTATAAAACCAGATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCCTGCCACCCTCACATAGAGAGGACACTGCCCCAGATGAGGGCCCATTGAACCTGACGAATGCCAGCACTGGCCACCTCCCTGGTGTCTTTCTGCTCACAGGGCAGATGCATGAGCCACAGTGCAGAAACCTACCCAGGCCCACAGAGCACCTGCCAGAGGCCCAGCCCCCAGGGGAAGGCGCAGGAGCCCGTGAGCTTCGAGCCATATTCAAGGTCAGCCAGACTGCCCTGAACAGAGCTGAGCTGGCTCCTTGGGTCTGATGGCTCAGTCTAGACTGGAGTGGGGACCAGGAGGGCTCATCCCCAGGGGTGGAAGAGACCTGGGTTCCCAGCCTTGGGGAACAGGGGTAGGCCCCCAGCGGCCTTTACTGCTGAGCCTCTGGGAACAGGGAATTCAATCCATATGGCTGATTCATTTACACTTAGCTCATCAAAAGGCTGTTTTGTAAAGGCCTGTTTGATGCTGAAAGATGCCTCAGGGTCTCTTTCACCTCTTTCAAAGCCAATTTTTCCTCCCCTGGGGCCCTGGGAATTTGCCTTCAGAACAAACCAAACTGACTGGGAGGAAGCCTGGGAGAGGCAGGGGTTCACCAGAGACACAGAAAGGCTCACAGATCCAGGGTGTCTTCTGTCCTGCCTGGAACCCACCTCATCCACAGGGGGACTGGAAACTCTGCCCTATGGCTTCCGAGGCCCCAAGTTCAACTTCTCTCACCCACCCTGACCCACTTGCAAGGTTGGAGGGATAGGGTGGGGTCAGGCTTCATCCTGCCTGCCCTCCCTATCGGGACTCCACCTCGGATCAGGATATGTTGGCGAGTGGGGGCAGCCCAGCTCTGCTGTTGGAGTAGAAAGTGACCACATATGACCTGGGAGTCTGCGTGGGCTGCAAATAGTACCCTTGAAGGCGTCTGTTTTCTTGGGCTCAGCTTTTTGTTTTTTATTTTTATTTATTTATTCCTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGAAGTACAAGCGAGCTCAAGGGATCCCCCTGTACAGCCGGGACACATGTGCTTGCCACCACACCAGCTAGTTTTTTAAAAATAAATTTTATTTATTTGTTGAAGTCAGGGGTCTCCCTATGCCGCTCAGGCTGGTTTACAATTCCTGGGCTGAAGGGATCCCCCTGCCTCGGCCTCCTAAAGCACTGGGATTACTGGTATGAGCCACTGCACCCAGCCTCAGGCTCAGCTTTTAAGGACT
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Task1_train_21705
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This variant impacts the gene HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Sick sinus syndrome 2, autosomal dominant
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AGGAGGTAGAGAAGGGTCCTCTAACCTAGGACCCTGTGTTCTAGCCAGGCTAATTTCTCTGCCACCACCCCTATGCTCATCCTCATCCTGATGCCTGGCCTAGAATTCTCTTCCACCTTCTCCTTCCTCTGCTTCCCCACAGTGAGCTCTCCTTGCCTCCCAGCTCTGTAGGCTCTCCTGAGCTCTCTTCTTGGCATCATGGGACCTGGACCTCCACACCTGGGTGGCCCCCACCTGTCAGTCACCCCACCAAAGGACAGTGCCTGGGACAGGCAGGCAGGCAGTGAATCCACAAATGCTGACCCTACTGTGTGCCAGGCATGGGGCATAAAACAGAAAACGACATACTGGGTCCTCCCCTCATGGAGCCGTGGCCTGGAGAGGGAAGGTGGGTTTGTTAAACAGATGGCTGCCTATGGTTAATTACATCACCACAGAGTGCCGAGTGTGGTGAAGGAGGAGAGGGTGCCATGGGGTCACATGACAGGTGAGGGGCTGGCCAGGTCACAGACGGCTTCTCTAAGTGGTGAGGCTGGACGTGGAGAGGGTGTCAGGTGGACACCTGGGGAGGAGAGTTGAGGGTGAAAGCCCGTGTCTGGGTCCCATGGCAGGAGCAGGCATGGGGAGAGAAGTCTGGCCAGGCTGAAATAAAGGGTGCAAGGCCCAGGGCAGGAGCTGAGCATGAGGGCAGATCCCTGGTTATGCTCCTCAAATGCCAGGCTGGGAAAACATGCTGAGGAGTTAATCTACATCTTCAGAGCAACGTGAAGTCCCTGAAGAGTTTCAAGCAGAGGATGAGGCTGACGTGTTTTAGATGCCGCTCCAACTGCTGTGTGAGGTGTGCAGTGGAAGGTGCCAGGGCAGAACCTGCTTAGCTGATAAACACAGGGGAGCTTACTTGCAACCCCCACAGCCTGATGCCCAGTACCACCCCCGCCCTGCAGATGAGGAAACGGGGCCTCACGCTGTGGAGGCACAGGCCCACGCTCAAACAGAGCTCGGCAGCAGAGAAGCTGGGGTAGGGCCCAGGTGGCCTGACTCCAGGCCACAGGACTCATTCTCTGTGGTGAGGGGGCTGCTGTTGAGACCCCAGGGAGAGATGAAGCTGGGGACGGGGGAAGGTGGTTGGGATGCAGAGAAGGAGCTGTGGCTTTGAGGTAGGCATTGATGACAGAGAGAGGCCAGGGATGGCTCCTAGTCTCTGGCCTGGGCATCTGGGAAGAGCAGAGACTTGGAGTAGAGAGAACAGGGCAGCCTTCTCATTACAGACATGAGGGGCGTGGGGTGTCCAGAGAGGGATGAAATAAACCACCTGGAGCTGAGAGATGAGGTGGGGCTGCTGATGCTGTGCAGGCCCCACTGTGCAAAGATGGGCACAGAGCCTGTGGGCCTGGGTGGTGAAACCACAGCACCGGGGCCCCAGACAGAGGGAGGGTCAGGGGCGAGGCCCGGGCCACTGGGGACTCCAGTGGCAGTGACTGGGAAGAGAAGCCAGCAAATGGGGGCAGGGGACTGGCCAGAGGGGCAGGAGCAACACCGCGAGAGTGCGGTCCTGGAGAACGAGTGAGCAGCCAGGAAGGGCGTGGTGACTGTCAAATGCCTACTGGAGCAGCACGGAGGGCACAGGGCCTCAGCCAGGAGCCACAGGCCCCAGTGACACTGGAGACGGGGAAGGTGGGAACAGAAAAAAAGACATGTGGAGGGGCCAGGCCAGGGAGCTGAAACTCAGATTCTCATCTCAGAGGTGTCTCCCTCCTCCTGCTCTTCCCTCACACTGGGAGTTCCGATCCTGTGGGGTGGGAGCAGGGGGCGGTTCCTGCTGGGGGCCCACTGGCTGGTGGCCTGTGCTCCCTCTTGGGAGGGACCAATGTGCGGGTGCTCCCTGGGTAGACCTACCTTTTCCTGGTACTGGCGCCGGGAGGAGTCCAGGGACTGGATGAGGGCAGTGGCGTGGCCAATGAACATGGCGTAGCAGGTGGCACCCACGATCATGCTGAGCATGGTGAGCCAGACGTCGGACATGCCCACGGGCGCCTGCCGCCCGTAGCCGATGCACAGCATGTGGCTCATGGCCTTGAAGAGCGCGTAGGAGTACTGCTTCCCCCAGGAGTTGTTCTGTGGACAGACGGATGGGTGGGGACAGTGGATGAGAGGGAAGGCCCTTCTCACTAGCAAGAAAAGGCCCTGCCACCTCCTCACCTCAACCTAACTTTCTCAGTGGCTGGGCCCAGGGCTCCCTAACCTTGCTGTTGGCTGAAAGCCTTGGGTGAGAAGCAGCCTGTGCTGCCAGCGAGTCCTCCTCTTGTGCCTTCCTCTTGCAATGGGGGCAGAGATCAGACTGGAAGCCCCAGTAAAGGTACGGGAGCCAGCGTGGCCCAGCCCCCATGGGGCAGCTTGGAGCCTCCTGGCTGGGTAGCAAAGGCCCCGGGCTGAGCCACCGTGCTGTCCTTCCCTTGCTAAAACAGCTCCACCCCCCAACCCCCTAAACAGCTGCCAAGTGAAGCCCATTTCCCCACTGACCTCAATTATAAAACCAGATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCCTGCCACCCTCACATAGAGAGGACACTGCCCCAGATGAGGGCCCATTGAACCTGACGAATGCCAGCACTGGCCACCTCCCTGGTGTCTTTCTGCTCACAGGGCAGATGCATGAGCCACAGTGCAGAAACCTACCCAGGCCCACAGAGCACCTGCCAGAGGCCCAGCCCCCAGGGGAAGGCGCAGGAGCCCGTGAGCTTCGAGCCATATTCAAGGTCAGCCAGACTGCCCTGAACAGAGCTGAGCTGGCTCCTTGGGTCTGATGGCTCAGTCTAGACTGGAGTGGGGACCAGGAGGGCTCATCCCCAGGGGTGGAAGAGACCTGGGTTCCCAGCCTTGGGGAACAGGGGTAGGCCCCCAGCGGCCTTTACTGCTGAGCCTCTGGGAACAGGGAATTCAATCCATATGGCTGATTCATTTACACTTAGCTCATCAAAAGGCTGTTTTGTAAAGGCCTGTTTGATGCTGAAAGATGCCTCAGGGTCTCTTTCACCTCTTTCAAAGCCAATTTTTCCTCCCCTGGGGCCCTGGGAATTTGCCTTCAGAACAAACCAAACTGACTGGGAGGAAGCCTGGGAGAGGCAGGGGTTCACCAGAGACACAGAAAGGCTCACAGATCCAGGGTGTCTTCTGTCCTGCCTGGAACCCACCTCATCCACAGGGGGACTGGAAACTCTGCCCTATGGCTTCCGAGGCCCCAAGTTCAACTTCTCTCACCCACCCTGACCCACTTGCAAGGTTGGAGGGATAGGGTGGGGTCAGGCTTCATCCTGCCTGCCCTCCCTATCGGGACTCCACCTCGGATCAGGATATGTTGGCGAGTGGGGGCAGCCCAGCTCTGCTGTTGGAGTAGAAAGTGACCACATATGACCTGGGAGTCTGCGTGGGCTGCAAATAGTACCCTTGAAGGCGTCTGTTTTCTTGGGCTCAGCTTTTTGTTTTTTATTTTTATTTATTTATTCCTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGAAGTACAAGCGAGCTCAAGGGATCCCCCTGTACAGCCGGGACACATGTGCTTGCCACCACACCAGCTAGTTTTTTAAAAATAAATTTTATTTATTTGTTGAAGTCAGGGGTCTCCCTATGCCGCTCAGGCTGGTTTACAATTCCTGGGCTGAAGGGATCCCCCTGCCTCGGCCTCCTAAAGCACTGGGATTACTGGTATGAGCCACTGCACCCAGCCTCAGGCTCAGCTTTTAAGGACTTGGCTT
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AGGAGGTAGAGAAGGGTCCTCTAACCTAGGACCCTGTGTTCTAGCCAGGCTAATTTCTCTGCCACCACCCCTATGCTCATCCTCATCCTGATGCCTGGCCTAGAATTCTCTTCCACCTTCTCCTTCCTCTGCTTCCCCACAGTGAGCTCTCCTTGCCTCCCAGCTCTGTAGGCTCTCCTGAGCTCTCTTCTTGGCATCATGGGACCTGGACCTCCACACCTGGGTGGCCCCCACCTGTCAGTCACCCCACCAAAGGACAGTGCCTGGGACAGGCAGGCAGGCAGTGAATCCACAAATGCTGACCCTACTGTGTGCCAGGCATGGGGCATAAAACAGAAAACGACATACTGGGTCCTCCCCTCATGGAGCCGTGGCCTGGAGAGGGAAGGTGGGTTTGTTAAACAGATGGCTGCCTATGGTTAATTACATCACCACAGAGTGCCGAGTGTGGTGAAGGAGGAGAGGGTGCCATGGGGTCACATGACAGGTGAGGGGCTGGCCAGGTCACAGACGGCTTCTCTAAGTGGTGAGGCTGGACGTGGAGAGGGTGTCAGGTGGACACCTGGGGAGGAGAGTTGAGGGTGAAAGCCCGTGTCTGGGTCCCATGGCAGGAGCAGGCATGGGGAGAGAAGTCTGGCCAGGCTGAAATAAAGGGTGCAAGGCCCAGGGCAGGAGCTGAGCATGAGGGCAGATCCCTGGTTATGCTCCTCAAATGCCAGGCTGGGAAAACATGCTGAGGAGTTAATCTACATCTTCAGAGCAACGTGAAGTCCCTGAAGAGTTTCAAGCAGAGGATGAGGCTGACGTGTTTTAGATGCCGCTCCAACTGCTGTGTGAGGTGTGCAGTGGAAGGTGCCAGGGCAGAACCTGCTTAGCTGATAAACACAGGGGAGCTTACTTGCAACCCCCACAGCCTGATGCCCAGTACCACCCCCGCCCTGCAGATGAGGAAACGGGGCCTCACGCTGTGGAGGCACAGGCCCACGCTCAAACAGAGCTCGGCAGCAGAGAAGCTGGGGTAGGGCCCAGGTGGCCTGACTCCAGGCCACAGGACTCATTCTCTGTGGTGAGGGGGCTGCTGTTGAGACCCCAGGGAGAGATGAAGCTGGGGACGGGGGAAGGTGGTTGGGATGCAGAGAAGGAGCTGTGGCTTTGAGGTAGGCATTGATGACAGAGAGAGGCCAGGGATGGCTCCTAGTCTCTGGCCTGGGCATCTGGGAAGAGCAGAGACTTGGAGTAGAGAGAACAGGGCAGCCTTCTCATTACAGACATGAGGGGCGTGGGGTGTCCAGAGAGGGATGAAATAAACCACCTGGAGCTGAGAGATGAGGTGGGGCTGCTGATGCTGTGCAGGCCCCACTGTGCAAAGATGGGCACAGAGCCTGTGGGCCTGGGTGGTGAAACCACAGCACCGGGGCCCCAGACAGAGGGAGGGTCAGGGGCGAGGCCCGGGCCACTGGGGACTCCAGTGGCAGTGACTGGGAAGAGAAGCCAGCAAATGGGGGCAGGGGACTGGCCAGAGGGGCAGGAGCAACACCGCGAGAGTGCGGTCCTGGAGAACGAGTGAGCAGCCAGGAAGGGCGTGGTGACTGTCAAATGCCTACTGGAGCAGCACGGAGGGCACAGGGCCTCAGCCAGGAGCCACAGGCCCCAGTGACACTGGAGACGGGGAAGGTGGGAACAGAAAAAAAGACATGTGGAGGGGCCAGGCCAGGGAGCTGAAACTCAGATTCTCATCTCAGAGGTGTCTCCCTCCTCCTGCTCTTCCCTCACACTGGGAGTTCCGATCCTGTGGGGTGGGAGCAGGGGGCGGTTCCTGCTGGGGGCCCACTGGCTGGTGGCCTGTGCTCCCTCTTGGGAGGGACCAATGTGCGGGTGCTCCCTGGGTAGACCTACCTTTTCCTGGTACTGGCGCCGGGAGGAGTCCAGGGACTGGATGAGGGCAGTGGCGTGGCCAATGAACATGGCGTAGCAGGTGGCACCCACGATCATGCTGAGCATGGTGAGCCAGACGTCGGACATGCCCACGGGCGCCTGCCGCCCGTAGCGGATGCACAGCATGTGGCTCATGGCCTTGAAGAGCGCGTAGGAGTACTGCTTCCCCCAGGAGTTGTTCTGTGGACAGACGGATGGGTGGGGACAGTGGATGAGAGGGAAGGCCCTTCTCACTAGCAAGAAAAGGCCCTGCCACCTCCTCACCTCAACCTAACTTTCTCAGTGGCTGGGCCCAGGGCTCCCTAACCTTGCTGTTGGCTGAAAGCCTTGGGTGAGAAGCAGCCTGTGCTGCCAGCGAGTCCTCCTCTTGTGCCTTCCTCTTGCAATGGGGGCAGAGATCAGACTGGAAGCCCCAGTAAAGGTACGGGAGCCAGCGTGGCCCAGCCCCCATGGGGCAGCTTGGAGCCTCCTGGCTGGGTAGCAAAGGCCCCGGGCTGAGCCACCGTGCTGTCCTTCCCTTGCTAAAACAGCTCCACCCCCCAACCCCCTAAACAGCTGCCAAGTGAAGCCCATTTCCCCACTGACCTCAATTATAAAACCAGATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCCTGCCACCCTCACATAGAGAGGACACTGCCCCAGATGAGGGCCCATTGAACCTGACGAATGCCAGCACTGGCCACCTCCCTGGTGTCTTTCTGCTCACAGGGCAGATGCATGAGCCACAGTGCAGAAACCTACCCAGGCCCACAGAGCACCTGCCAGAGGCCCAGCCCCCAGGGGAAGGCGCAGGAGCCCGTGAGCTTCGAGCCATATTCAAGGTCAGCCAGACTGCCCTGAACAGAGCTGAGCTGGCTCCTTGGGTCTGATGGCTCAGTCTAGACTGGAGTGGGGACCAGGAGGGCTCATCCCCAGGGGTGGAAGAGACCTGGGTTCCCAGCCTTGGGGAACAGGGGTAGGCCCCCAGCGGCCTTTACTGCTGAGCCTCTGGGAACAGGGAATTCAATCCATATGGCTGATTCATTTACACTTAGCTCATCAAAAGGCTGTTTTGTAAAGGCCTGTTTGATGCTGAAAGATGCCTCAGGGTCTCTTTCACCTCTTTCAAAGCCAATTTTTCCTCCCCTGGGGCCCTGGGAATTTGCCTTCAGAACAAACCAAACTGACTGGGAGGAAGCCTGGGAGAGGCAGGGGTTCACCAGAGACACAGAAAGGCTCACAGATCCAGGGTGTCTTCTGTCCTGCCTGGAACCCACCTCATCCACAGGGGGACTGGAAACTCTGCCCTATGGCTTCCGAGGCCCCAAGTTCAACTTCTCTCACCCACCCTGACCCACTTGCAAGGTTGGAGGGATAGGGTGGGGTCAGGCTTCATCCTGCCTGCCCTCCCTATCGGGACTCCACCTCGGATCAGGATATGTTGGCGAGTGGGGGCAGCCCAGCTCTGCTGTTGGAGTAGAAAGTGACCACATATGACCTGGGAGTCTGCGTGGGCTGCAAATAGTACCCTTGAAGGCGTCTGTTTTCTTGGGCTCAGCTTTTTGTTTTTTATTTTTATTTATTTATTCCTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGAAGTACAAGCGAGCTCAAGGGATCCCCCTGTACAGCCGGGACACATGTGCTTGCCACCACACCAGCTAGTTTTTTAAAAATAAATTTTATTTATTTGTTGAAGTCAGGGGTCTCCCTATGCCGCTCAGGCTGGTTTACAATTCCTGGGCTGAAGGGATCCCCCTGCCTCGGCCTCCTAAAGCACTGGGATTACTGGTATGAGCCACTGCACCCAGCCTCAGGCTCAGCTTTTAAGGACTTGGCTT
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Task1_train_21706
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With a mutation on Chromosome 15 in gene HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Sick sinus syndrome 2, autosomal dominant
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GATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCCTGCCACCCTCACATAGAGAGGACACTGCCCCAGATGAGGGCCCATTGAACCTGACGAATGCCAGCACTGGCCACCTCCCTGGTGTCTTTCTGCTCACAGGGCAGATGCATGAGCCACAGTGCAGAAACCTACCCAGGCCCACAGAGCACCTGCCAGAGGCCCAGCCCCCAGGGGAAGGCGCAGGAGCCCGTGAGCTTCGAGCCATATTCAAGGTCAGCCAGACTGCCCTGAACAGAGCTGAGCTGGCTCCTTGGGTCTGATGGCTCAGTCTAGACTGGAGTGGGGACCAGGAGGGCTCATCCCCAGGGGTGGAAGAGACCTGGGTTCCCAGCCTTGGGGAACAGGGGTAGGCCCCCAGCGGCCTTTACTGCTGAGCCTCTGGGAACAGGGAATTCAATCCATATGGCTGATTCATTTACACTTAGCTCATCAAAAGGCTGTTTTGTAAAGGCCTGTTTGATGCTGAAAGATGCCTCAGGGTCTCTTTCACCTCTTTCAAAGCCAATTTTTCCTCCCCTGGGGCCCTGGGAATTTGCCTTCAGAACAAACCAAACTGACTGGGAGGAAGCCTGGGAGAGGCAGGGGTTCACCAGAGACACAGAAAGGCTCACAGATCCAGGGTGTCTTCTGTCCTGCCTGGAACCCACCTCATCCACAGGGGGACTGGAAACTCTGCCCTATGGCTTCCGAGGCCCCAAGTTCAACTTCTCTCACCCACCCTGACCCACTTGCAAGGTTGGAGGGATAGGGTGGGGTCAGGCTTCATCCTGCCTGCCCTCCCTATCGGGACTCCACCTCGGATCAGGATATGTTGGCGAGTGGGGGCAGCCCAGCTCTGCTGTTGGAGTAGAAAGTGACCACATATGACCTGGGAGTCTGCGTGGGCTGCAAATAGTACCCTTGAAGGCGTCTGTTTTCTTGGGCTCAGCTTTTTGTTTTTTATTTTTATTTATTTATTCCTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGAAGTACAAGCGAGCTCAAGGGATCCCCCTGTACAGCCGGGACACATGTGCTTGCCACCACACCAGCTAGTTTTTTAAAAATAAATTTTATTTATTTGTTGAAGTCAGGGGTCTCCCTATGCCGCTCAGGCTGGTTTACAATTCCTGGGCTGAAGGGATCCCCCTGCCTCGGCCTCCTAAAGCACTGGGATTACTGGTATGAGCCACTGCACCCAGCCTCAGGCTCAGCTTTTAAGGACTTGGCTTCTAAGGGGCAGAGGCAGGAGGCCAGGAGCTGCCAGCCCAGCATTGCCATGCCTGGGGGAGGCCGCCCAGGTCTTAGTCTCCCTGGGTAAAATCAAGATGAAATACTGAGGCTCCCAGTTGCAATGGAGGCTGTGAGAAGATGGAGGTACCAGCTCCCAACCCAGAGCTGTGAATGGATCCCTGGACTGGCAGCAAGCGATTGGGCCTGTACTGGGTAGAGCTATGTGCCCCCTCAGCCCCAGGCAGCACTCAGGGTCCTACATGCTGGAACTCAGAAGTTCCAAGTCCACATCTCGCCACCCTACCTCTGGAGAGCCCGCCTATGGCCCAGAGAGAGGACCGGGCTGGGCGCACTCACCACCATGTTGTTGATGGACACCCAGCAGTCGTCAGGGAAGTCCTGTAGCATGGGTACCAGGAACTGCAGGCAGCCGTCCCAGTGGCAGAGCAGGAGCATCATGCCGATGAGGTTCACGATGCGCACCACGGCGCTGGCCAGGTCGTAGGTCATGTGGAAGATCTGCCAGCAGAGGAGGAGAAATTGGCTGGGATAGGTGAGTGGCCAGGAGGGCCAGCGGCCACTTTCCCTGCCCTGGAGCTGCTGGTGGGCACTGCTCTGCCTGGACTCTGCAGGGCGCCCACTCAGTGCAAATCCAGGCTGGGGGTGGGATGGGAAGGCGTCAGTCTAGGTCTTGGAAGAGGAAGACTGTAGGCTGCAGGGTCCCAGAGGGACATCTCCTGGCATCTATACAGATGGGGGGTCTTCCTGAAAGGTCTAGCCATCCAGGACATGTGGAAGGACACCTGGAGCCCCATGCAGCCCAGAAGTGGGCAGAGAAGCCACTTTCTCAGCTTTCCTGGGGTGTGAGGATACCAGGGAGAAAAGCCTGCCAGCCTGAGGCTCCTCAGGGAACCAAAAGTCTACAGACATGCCAGGGGCGTGTTTCCCTAAATCTATCACTAAATTCTCAAGACTCACACACGGTAGCCACGGAACTGCAGAGGAAGCGGCACAGGCTCACAGGCCCCAAGTTCAGGCAGACCTTGATCCCAAGCCCAGGTCCTACCCAGTTCCTAGCTGTGTAACCTTGAACCTCTCTGATCATGTTTTCTCATCTGGAAAATGGTGATAAAAATTCTTATCTGAGTGGGCTGTCAAAAGGACTAAATTATACATATAAAGTGCTTAGTAATGGGTAGAGGAGTGTTCAATAAATTACAAACCATTATTAATTGATAAGCTGTTATTAATAATTAATCTTCCTGATTGGTTAATACGTATTTGGGGTAATGTTCTCCTTTACAGCACCCTTGACCCCAGCCCACTGGCACCAGCCCCTCTCTACTCCTGCAGCTCGGAGTGGGGGGCTGCAGTGTAGCTGGACAGGGCCAAGGTGGGCATATCCCAGCCCCTCCTCCTCCCAAAGCTGCCATGCTGGGGTCCCCTTGCTGACAGGGCAGTGGGGGATGGAGAGGTGGAGGCAAGTCTAGAGGAAAGTCTCTGGAAGCTCTGGCCTTGCTTCTGTGGCCTGGGAGACTTTGAAGTGGGTCTAGCCACCCAGCCCCCATTCTCATCCCTCCATACTATTCCCAGGCAAAGACACCCCTCTTGGAGGGGGGCTTGGGTCAAATGCCACAGAGACCTAGTTTAAGCCCATTTCAGATGTGGAAACTAGGCCCAAACAGACAGAGCCTAGATATGTCAGCCCCTGTCTACTGGTCTTCCAGCTACAGCCCTGTAGCTAGTGGCAAGCTGTTCTGATACTAGTGACCGAAGATGAGTACTTTTTGTCCACAGCTCATCACCTGCAGTCACCCCCACCTGTGGCCCCCATCAAGGGCATGACCCTGAAGGTTCCAGCTACAAAGCTGGGAGTCTTTCCAGGATGAAGTGGACAGCGAAAGGTTCATGGGGTCCGGTAGCTTAAGCTTGCCCCATCATTTCCCTGTGGCCCTGGTGACAGAGGGGACAATAGTGCCACACCTGACTGTGGACATGAAATTCCACAGCCATCCTCTATTTAAACTCACAAAAATCCTTTGCTGAAGATATTGTTCATCTGTTTTATACCAAGGCTCAGAGAAGTACAGGAACTTGCCCAAGATCACGGTGGCAGTGGAAAGGCCAGATGTTGTAGCCAGGTCTGCCTGATTCTGAGGCCTGTAGCCACCATATTAGATTGTTAGATTGACCTAGTGAGGAAAGGGTAGCTCTCAGCAGTTCCATTTTGTGGATAAAACAACTCAAACCCAAAGTGGCTGAATGAGGTGCCCAGATTCACACAGCAAGCTGGGTCCTAGGCCAGGTGGGAATTGCCAGCTTCTCGCCTCCCCAGCCCCTGCACACAGTGTGATGGTGTAGACGGTGCTGTGTGCCCTGCAGCCCAGTACCACTGGGGCACAGACCAGCTCTGGGGCTGTCAGCGTTTGAGCTCCTGGCTAAGCTGACACTGCTCAGCATCTGCCATGGCCTGGAAGGAATGGTGGGCCCTGGAGAGCAGGCCGGTCTGTGGCTGGGCTGGGGCCTGGGTCTGGG
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GATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCCTGCCACCCTCACATAGAGAGGACACTGCCCCAGATGAGGGCCCATTGAACCTGACGAATGCCAGCACTGGCCACCTCCCTGGTGTCTTTCTGCTCACAGGGCAGATGCATGAGCCACAGTGCAGAAACCTACCCAGGCCCACAGAGCACCTGCCAGAGGCCCAGCCCCCAGGGGAAGGCGCAGGAGCCCGTGAGCTTCGAGCCATATTCAAGGTCAGCCAGACTGCCCTGAACAGAGCTGAGCTGGCTCCTTGGGTCTGATGGCTCAGTCTAGACTGGAGTGGGGACCAGGAGGGCTCATCCCCAGGGGTGGAAGAGACCTGGGTTCCCAGCCTTGGGGAACAGGGGTAGGCCCCCAGCGGCCTTTACTGCTGAGCCTCTGGGAACAGGGAATTCAATCCATATGGCTGATTCATTTACACTTAGCTCATCAAAAGGCTGTTTTGTAAAGGCCTGTTTGATGCTGAAAGATGCCTCAGGGTCTCTTTCACCTCTTTCAAAGCCAATTTTTCCTCCCCTGGGGCCCTGGGAATTTGCCTTCAGAACAAACCAAACTGACTGGGAGGAAGCCTGGGAGAGGCAGGGGTTCACCAGAGACACAGAAAGGCTCACAGATCCAGGGTGTCTTCTGTCCTGCCTGGAACCCACCTCATCCACAGGGGGACTGGAAACTCTGCCCTATGGCTTCCGAGGCCCCAAGTTCAACTTCTCTCACCCACCCTGACCCACTTGCAAGGTTGGAGGGATAGGGTGGGGTCAGGCTTCATCCTGCCTGCCCTCCCTATCGGGACTCCACCTCGGATCAGGATATGTTGGCGAGTGGGGGCAGCCCAGCTCTGCTGTTGGAGTAGAAAGTGACCACATATGACCTGGGAGTCTGCGTGGGCTGCAAATAGTACCCTTGAAGGCGTCTGTTTTCTTGGGCTCAGCTTTTTGTTTTTTATTTTTATTTATTTATTCCTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGAAGTACAAGCGAGCTCAAGGGATCCCCCTGTACAGCCGGGACACATGTGCTTGCCACCACACCAGCTAGTTTTTTAAAAATAAATTTTATTTATTTGTTGAAGTCAGGGGTCTCCCTATGCCGCTCAGGCTGGTTTACAATTCCTGGGCTGAAGGGATCCCCCTGCCTCGGCCTCCTAAAGCACTGGGATTACTGGTATGAGCCACTGCACCCAGCCTCAGGCTCAGCTTTTAAGGACTTGGCTTCTAAGGGGCAGAGGCAGGAGGCCAGGAGCTGCCAGCCCAGCATTGCCATGCCTGGGGGAGGCCGCCCAGGTCTTAGTCTCCCTGGGTAAAATCAAGATGAAATACTGAGGCTCCCAGTTGCAATGGAGGCTGTGAGAAGATGGAGGTACCAGCTCCCAACCCAGAGCTGTGAATGGATCCCTGGACTGGCAGCAAGCGATTGGGCCTGTACTGGGTAGAGCTATGTGCCCCCTCAGCCCCAGGCAGCACTCAGGGTCCTACATGCTGGAACTCAGAAGTTCCAAGTCCACATCTCGCCACCCTACCTCTGGAGAGCCCGCCTATGGCCCAGAGAGAGGACCGGGCTGGGCGCACTCACCACCATGTTGTTGATGGACACCCAGCAGTCGTCAGGGAAGTCCTGTAGCATGGGTACCAGGAACTGCAGGCAGCCGTCCCAGTGGCAGAGCAGGAGCATCATGCCGATGAGGTTCACGATGCGCACCACGCCGCTGGCCAGGTCGTAGGTCATGTGGAAGATCTGCCAGCAGAGGAGGAGAAATTGGCTGGGATAGGTGAGTGGCCAGGAGGGCCAGCGGCCACTTTCCCTGCCCTGGAGCTGCTGGTGGGCACTGCTCTGCCTGGACTCTGCAGGGCGCCCACTCAGTGCAAATCCAGGCTGGGGGTGGGATGGGAAGGCGTCAGTCTAGGTCTTGGAAGAGGAAGACTGTAGGCTGCAGGGTCCCAGAGGGACATCTCCTGGCATCTATACAGATGGGGGGTCTTCCTGAAAGGTCTAGCCATCCAGGACATGTGGAAGGACACCTGGAGCCCCATGCAGCCCAGAAGTGGGCAGAGAAGCCACTTTCTCAGCTTTCCTGGGGTGTGAGGATACCAGGGAGAAAAGCCTGCCAGCCTGAGGCTCCTCAGGGAACCAAAAGTCTACAGACATGCCAGGGGCGTGTTTCCCTAAATCTATCACTAAATTCTCAAGACTCACACACGGTAGCCACGGAACTGCAGAGGAAGCGGCACAGGCTCACAGGCCCCAAGTTCAGGCAGACCTTGATCCCAAGCCCAGGTCCTACCCAGTTCCTAGCTGTGTAACCTTGAACCTCTCTGATCATGTTTTCTCATCTGGAAAATGGTGATAAAAATTCTTATCTGAGTGGGCTGTCAAAAGGACTAAATTATACATATAAAGTGCTTAGTAATGGGTAGAGGAGTGTTCAATAAATTACAAACCATTATTAATTGATAAGCTGTTATTAATAATTAATCTTCCTGATTGGTTAATACGTATTTGGGGTAATGTTCTCCTTTACAGCACCCTTGACCCCAGCCCACTGGCACCAGCCCCTCTCTACTCCTGCAGCTCGGAGTGGGGGGCTGCAGTGTAGCTGGACAGGGCCAAGGTGGGCATATCCCAGCCCCTCCTCCTCCCAAAGCTGCCATGCTGGGGTCCCCTTGCTGACAGGGCAGTGGGGGATGGAGAGGTGGAGGCAAGTCTAGAGGAAAGTCTCTGGAAGCTCTGGCCTTGCTTCTGTGGCCTGGGAGACTTTGAAGTGGGTCTAGCCACCCAGCCCCCATTCTCATCCCTCCATACTATTCCCAGGCAAAGACACCCCTCTTGGAGGGGGGCTTGGGTCAAATGCCACAGAGACCTAGTTTAAGCCCATTTCAGATGTGGAAACTAGGCCCAAACAGACAGAGCCTAGATATGTCAGCCCCTGTCTACTGGTCTTCCAGCTACAGCCCTGTAGCTAGTGGCAAGCTGTTCTGATACTAGTGACCGAAGATGAGTACTTTTTGTCCACAGCTCATCACCTGCAGTCACCCCCACCTGTGGCCCCCATCAAGGGCATGACCCTGAAGGTTCCAGCTACAAAGCTGGGAGTCTTTCCAGGATGAAGTGGACAGCGAAAGGTTCATGGGGTCCGGTAGCTTAAGCTTGCCCCATCATTTCCCTGTGGCCCTGGTGACAGAGGGGACAATAGTGCCACACCTGACTGTGGACATGAAATTCCACAGCCATCCTCTATTTAAACTCACAAAAATCCTTTGCTGAAGATATTGTTCATCTGTTTTATACCAAGGCTCAGAGAAGTACAGGAACTTGCCCAAGATCACGGTGGCAGTGGAAAGGCCAGATGTTGTAGCCAGGTCTGCCTGATTCTGAGGCCTGTAGCCACCATATTAGATTGTTAGATTGACCTAGTGAGGAAAGGGTAGCTCTCAGCAGTTCCATTTTGTGGATAAAACAACTCAAACCCAAAGTGGCTGAATGAGGTGCCCAGATTCACACAGCAAGCTGGGTCCTAGGCCAGGTGGGAATTGCCAGCTTCTCGCCTCCCCAGCCCCTGCACACAGTGTGATGGTGTAGACGGTGCTGTGTGCCCTGCAGCCCAGTACCACTGGGGCACAGACCAGCTCTGGGGCTGTCAGCGTTTGAGCTCCTGGCTAAGCTGACACTGCTCAGCATCTGCCATGGCCTGGAAGGAATGGTGGGCCCTGGAGAGCAGGCCGGTCTGTGGCTGGGCTGGGGCCTGGGTCTGGG
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Task1_train_21707
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A genetic alteration is present in LOC126862173, HCN4, LOC105370890 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:73635762-73636961| hyperpolarization activated cyclic nucleotide gated potassium channel 4| uncharacterized LOC105370890) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; HCN4-related disorder
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GCTAAGGCTTTATAAACATCAGGTACAACTTATACCTATTTTGCAGATAAAGAGACTGAGGCACAGAGAGGCAAAGTGGACCCAAAGCTACATGCTAGGCAGTGTGGAGCCGGGATTTTAACTTGGGTCTTAAATGCGCCATTCCACTACACCGGGGTGGGACAGCCCACACTATGTGCTGGGGGCCAAGAGGGCTAGCTGGATTCTGTCCCAGTTCTACCAGAGGTCTAACTGCATGACCTTGGGAGAGTCACGGCCCCTCTCTGTCAGCATAAGTAATGTGAATTTTCCAAGCCAAAGAGAATTTCTGCCATGGAGGGACGCTGCCAAACTGGTGCACACACTTCTCCTATGGCACATGCGTTCATGACGCCTCTGACCATCAGCCATAGGTGCTGCCAGTCGAGGCCCAGGCTGCTGCTGGGGGTGAGCATGGGGGGCTTCATGTCCTGAACATGGGAACTTCTGCCAGGCAAGCAGGGGGTCCTGGAGGCTGGGAAGTCAGCCACGCGGCACAGGGATGGAGCGGGAAATGGCCCTCCATGGAAGCTTGTCCCGCCCACAGGTGGCAGGGATCCAAGGTGGGCTGTCTCACAGAGAGAGTAGGCCCTCCAGGCTGGCCTGCCTGCCGCTGCTGCCAAGTTGTGTAACTTGGGTGGGTGGCAGACACAGACCGAAGCACTTGGCAAGGTCAGCTGCTCTTCCTCCCAGCAAAGCCCTTAGCTCCTCTGCTGCAGATGACTGCTTCAGCCCATGGATGAGTGAGGTTTGTTCACAATGCAGTTGGTCCGCCCAGTTCTTTTTCAATGTTTTATTTTCCTCCTGTAGCCAGTGTTCACAGCCCCTAGGATCCCTTTACAGTTTCTGAGCACAAGACTCCAACTTGCCCGCGTGATTTCACTCTCTACAGCCAGCGGCCGCACCTTTTGTCAGAGGCCTGCCCGGGCTGCTGGAAACTGCTTTGGCTGTGAGTGCTGAGGGCTGGCAGTGCCTTGAACCAATGACTGACAGGTAAGGGGATATAAACATTCCAACTCCCTTGCCCTGACTGGGACAACTCCAAGGTGTGGCGCACACTATCCTCAGATCCCATAGGGCTGAGGCAAACAGCCATCCACAGGACACCCTCCAATGTCCAACCATTGCTTGGCTTCCTGCCTTTCCCTGTCCCTCTCCCCAGTCCCCTTACCAGATTTTCCTGGGAATGCATCCCCAAAACATCCCTTTCATGCAAATCTTTGTCTCAGGTTCTGCTCAGGAAGAACCCAAACTAAGAGAGTTGCCAACAAAATTTGTATAAAAATCCAGATTTCCATTTCTCATAATGCTATAGATCTAGCAACCCTGGGCCCATTCCCACTTGACAAAAATTAGCTGGAGCTGCATAGAGGCCACCCAATATAACGGAGATGTTCTCTAGTTCTTCTCATCCACCACACTGTCTACTGTCCCCCAACTGGCCCTTTTCACCCATCCCTATTCCCTGCCTGTCCCCAACAAGTTTATGGGTTTACAAACCCTACAACATAACGCAGTGGTTAATAATGTGGGCTCTAGAGGTGATCGGCTTAAGTTCACATTCCAGGTTCACAAATTACTAATCATGCAACCTTGTATAAGTCACTTAATATTTCTGTCTGTTTCTTCAGGTGAAAAATGAGTATATACATGTACCTATATGGTTCCCTCTATAGCTGTTACACACTTCATTGAGATACTGCATGTAAAGTATCCAGCACATGATAAGAGGTCAAGAACTTACTAGTATTTGTCCTCTTGGAGCAGGTGTGCCTGCCACAATCTGACAGCCTATGTTCAATTATCTGAGGTTCCCTGCCAGTTCCTCACTCCCTCTGTGGGGAGTGGCCTTTCCCCCAAGAGGTTTGCACTGACCACTTACCTCTTCCCACTGGTGAATATATCGAATGAGGCGGGAGAGGCGTAACAGGCGTAAGAGGCTGAGGATCTTCGTGAAGCGGACAATGCGCAGGGCCCGGGCAGTCTTGTAGACCTCCGAGTCGATGCGTGTCTCCACAATGAGGAAGATGTAGTCCACGGGGATGGAGGAAATGAAATCTACCATGAACCAGCTTTTCAGGTACTTCATTTTAATCCGCTGCGGGTCCAGGATGATCTCTGTGTTGTCCTCCACCACGATCCCTGTGCGGAAGTTGAGGACCAAGTCGATGAGGAAGAATGTGTCTGACACCACATTGAAGACAATCCAGGGTGTGGTGTTCTCATCCTTGAAGAAGGTGATGCCCACAGGAATGATAATCAGGTTTCCCACCATCAGCAGCAGCATGGTCAGGTCCCAGTAAAATCTGCCCAGAGACACAGGGGTCAGTCGCCAGGAAGAGAGAGAGGACAAGTTACAGACTAAGGGAGGAAGATCTGAGGGACAGCATCTGGGACAGAGAAGTCTTGGGAGGTTCTGAGACAGGAAGACAGGCACATGGGTACCAGGGCAAGATGTGGAGATTGGCACAGGGAATGACACAATAAGAGGCTCTTCATTCACTAAGGATACCCTCCGTGCTGCCCTTCTGTGAGTTTCCCCGAGCCCCAACAACAAGCTTCCTCCTCCCATCCCCAGCCCGCAGTAAGAGTCAGGCTGAAAAGCAAATCAGTGACACTCAGAGAGAAGCAAGAGGCTGTTTTAGCAAAAGGAGCAGCTCACCCCACACCACCCCAGGCTCAGGCTAGGCTGCCCCATCCTCCCTGAGGGTCAGCTGTGGCTTGAGATGGGCTGTCAGGGAGACATTCCACAGACCATGACCAAAGAGCAGGGGAGGTACAGACATGACTCAGGTGCCTGGAAGGCAGGAGGCCCAGGCTCCGGCCCCAGCTTTGTCATCAACATGCTATGTGACATCCGGAAGGGCCTCCCTATTCTGGGCCTCAGTTTCCTCACTGTGTAATGAGTCCTATCATTCTGATCTGGCCCTCTCCCAAACTGGTTCTCTGGCATCCACCTTTAGTCCATCCCCTATAATCAGAAAATGTCTGACCATCTCCTTCCCTCAGAGGTTTGCATCCTAACATGGGGGTGTGGAGGGGGAGAGATAGCTTCAAAACAAGAATAATTAATGGGGGGATTTCAGGCACCAGTGAGATACCACTCAATGTGATAGAAAGAGACCAGCCCAGGGCTTCCAGAATCATTTCTCCTAAGGCCTCAGGCACCTTCAAGTCGTTTGTAGAGGGAGCCTCAGGGCAAAGCCTTGGAGAAGTTGAGCAGCATGAGGAGGAGGCACAACACCAACTCACAGGTCTGTGGTGGGTTTCTCCCAACTCACCAAGCAGGGGGCCTTCTGGAGTGTGGAAACAACACAGGTGGCCAAGACCCCAATCCAGAAGGCATGGCCAGTTATTCCCAGGGACCCTGCCCAAGCACCAGCCATCCCAGGGCTGGCCCCAAGACCAAAAACTTGCACTGCAGAGCTGTTTCCCTCTGCTATTAATTTAGACATTTACACAATAACAGATAAAGGTATTAAGTGAGGCAGAAATAAGCATGTCTTCTCCCAGGAGAAATAACCTTTCCACCATCTTTGATTCTTTACTGCAGGGAAGCCAGGAGGAAGGAAGTGGGAAAGAAAGAGATAAGCTTTCCTCGAGTCTTCAGAGGGTCTCACTGTAAACCAAAGTGCCCCTGCCTGCAGAGTTCCAGGTTGCAAAGAAATTACTTCATAGCAAATTGTTTGTTTGTTTGCCAGACTCAAAATGGGGCTGTGATTCAAGGAGAGGGTAGGGCCTGTTTTGCTGAAGGTGGGTGAGATGGCTGTCCTACATCACACTGTGTGGCAAAGGGCAGTTTCCAGAGAGTCAGCTTTCTGCAGCTCCTTTGAAAGCCAAGCTCTTCAGGGCCTCAAGACAGGGCCTTATGGGGGATAAGGCCGGATGCCAAGAGGCCAACTTCAGCTCCTCTCTACCCCATGACCCACCACTCCTTCCTGTGGCCCCAGTACCCATATGCCAGCTGAGAGAACCCAACTAAGGCCTGAGGACCCATCCTCAGCTTCACACTTTACTACAAAGAATGCAGCACACCTGCTAATGAGTCATGGGCCCCAGGAGGATGGTTTCAGCATCT
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GCTAAGGCTTTATAAACATCAGGTACAACTTATACCTATTTTGCAGATAAAGAGACTGAGGCACAGAGAGGCAAAGTGGACCCAAAGCTACATGCTAGGCAGTGTGGAGCCGGGATTTTAACTTGGGTCTTAAATGCGCCATTCCACTACACCGGGGTGGGACAGCCCACACTATGTGCTGGGGGCCAAGAGGGCTAGCTGGATTCTGTCCCAGTTCTACCAGAGGTCTAACTGCATGACCTTGGGAGAGTCACGGCCCCTCTCTGTCAGCATAAGTAATGTGAATTTTCCAAGCCAAAGAGAATTTCTGCCATGGAGGGACGCTGCCAAACTGGTGCACACACTTCTCCTATGGCACATGCGTTCATGACGCCTCTGACCATCAGCCATAGGTGCTGCCAGTCGAGGCCCAGGCTGCTGCTGGGGGTGAGCATGGGGGGCTTCATGTCCTGAACATGGGAACTTCTGCCAGGCAAGCAGGGGGTCCTGGAGGCTGGGAAGTCAGCCACGCGGCACAGGGATGGAGCGGGAAATGGCCCTCCATGGAAGCTTGTCCCGCCCACAGGTGGCAGGGATCCAAGGTGGGCTGTCTCACAGAGAGAGTAGGCCCTCCAGGCTGGCCTGCCTGCCGCTGCTGCCAAGTTGTGTAACTTGGGTGGGTGGCAGACACAGACCGAAGCACTTGGCAAGGTCAGCTGCTCTTCCTCCCAGCAAAGCCCTTAGCTCCTCTGCTGCAGATGACTGCTTCAGCCCATGGATGAGTGAGGTTTGTTCACAATGCAGTTGGTCCGCCCAGTTCTTTTTCAATGTTTTATTTTCCTCCTGTAGCCAGTGTTCACAGCCCCTAGGATCCCTTTACAGTTTCTGAGCACAAGACTCCAACTTGCCCGCGTGATTTCACTCTCTACAGCCAGCGGCCGCACCTTTTGTCAGAGGCCTGCCCGGGCTGCTGGAAACTGCTTTGGCTGTGAGTGCTGAGGGCTGGCAGTGCCTTGAACCAATGACTGACAGGTAAGGGGATATAAACATTCCAACTCCCTTGCCCTGACTGGGACAACTCCAAGGTGTGGCGCACACTATCCTCAGATCCCATAGGGCTGAGGCAAACAGCCATCCACAGGACACCCTCCAATGTCCAACCATTGCTTGGCTTCCTGCCTTTCCCTGTCCCTCTCCCCAGTCCCCTTACCAGATTTTCCTGGGAATGCATCCCCAAAACATCCCTTTCATGCAAATCTTTGTCTCAGGTTCTGCTCAGGAAGAACCCAAACTAAGAGAGTTGCCAACAAAATTTGTATAAAAATCCAGATTTCCATTTCTCATAATGCTATAGATCTAGCAACCCTGGGCCCATTCCCACTTGACAAAAATTAGCTGGAGCTGCATAGAGGCCACCCAATATAACGGAGATGTTCTCTAGTTCTTCTCATCCACCACACTGTCTACTGTCCCCCAACTGGCCCTTTTCACCCATCCCTATTCCCTGCCTGTCCCCAACAAGTTTATGGGTTTACAAACCCTACAACATAACGCAGTGGTTAATAATGTGGGCTCTAGAGGTGATCGGCTTAAGTTCACATTCCAGGTTCACAAATTACTAATCATGCAACCTTGTATAAGTCACTTAATATTTCTGTCTGTTTCTTCAGGTGAAAAATGAGTATATACATGTACCTATATGGTTCCCTCTATAGCTGTTACACACTTCATTGAGATACTGCATGTAAAGTATCCAGCACATGATAAGAGGTCAAGAACTTACTAGTATTTGTCCTCTTGGAGCAGGTGTGCCTGCCACAATCTGACAGCCTATGTTCAATTATCTGAGGTTCCCTGCCAGTTCCTCACTCCCTCTGTGGGGAGTGGCCTTTCCCCCAAGAGGTTTGCACTGACCACTTACCTCTTCCCACTGGTGAATATATCGAATGAGGCGGGAGAGGCGTAACAGGCGTAAGAGGCTGAGGATCTTCGTGAAGCGGACAATGCGCAGGGCCCGGGCAGTCTTGTAGACCTCCGAGTCGATGCGTGTCTCCACAATGAGGAAGATGCAGTCCACGGGGATGGAGGAAATGAAATCTACCATGAACCAGCTTTTCAGGTACTTCATTTTAATCCGCTGCGGGTCCAGGATGATCTCTGTGTTGTCCTCCACCACGATCCCTGTGCGGAAGTTGAGGACCAAGTCGATGAGGAAGAATGTGTCTGACACCACATTGAAGACAATCCAGGGTGTGGTGTTCTCATCCTTGAAGAAGGTGATGCCCACAGGAATGATAATCAGGTTTCCCACCATCAGCAGCAGCATGGTCAGGTCCCAGTAAAATCTGCCCAGAGACACAGGGGTCAGTCGCCAGGAAGAGAGAGAGGACAAGTTACAGACTAAGGGAGGAAGATCTGAGGGACAGCATCTGGGACAGAGAAGTCTTGGGAGGTTCTGAGACAGGAAGACAGGCACATGGGTACCAGGGCAAGATGTGGAGATTGGCACAGGGAATGACACAATAAGAGGCTCTTCATTCACTAAGGATACCCTCCGTGCTGCCCTTCTGTGAGTTTCCCCGAGCCCCAACAACAAGCTTCCTCCTCCCATCCCCAGCCCGCAGTAAGAGTCAGGCTGAAAAGCAAATCAGTGACACTCAGAGAGAAGCAAGAGGCTGTTTTAGCAAAAGGAGCAGCTCACCCCACACCACCCCAGGCTCAGGCTAGGCTGCCCCATCCTCCCTGAGGGTCAGCTGTGGCTTGAGATGGGCTGTCAGGGAGACATTCCACAGACCATGACCAAAGAGCAGGGGAGGTACAGACATGACTCAGGTGCCTGGAAGGCAGGAGGCCCAGGCTCCGGCCCCAGCTTTGTCATCAACATGCTATGTGACATCCGGAAGGGCCTCCCTATTCTGGGCCTCAGTTTCCTCACTGTGTAATGAGTCCTATCATTCTGATCTGGCCCTCTCCCAAACTGGTTCTCTGGCATCCACCTTTAGTCCATCCCCTATAATCAGAAAATGTCTGACCATCTCCTTCCCTCAGAGGTTTGCATCCTAACATGGGGGTGTGGAGGGGGAGAGATAGCTTCAAAACAAGAATAATTAATGGGGGGATTTCAGGCACCAGTGAGATACCACTCAATGTGATAGAAAGAGACCAGCCCAGGGCTTCCAGAATCATTTCTCCTAAGGCCTCAGGCACCTTCAAGTCGTTTGTAGAGGGAGCCTCAGGGCAAAGCCTTGGAGAAGTTGAGCAGCATGAGGAGGAGGCACAACACCAACTCACAGGTCTGTGGTGGGTTTCTCCCAACTCACCAAGCAGGGGGCCTTCTGGAGTGTGGAAACAACACAGGTGGCCAAGACCCCAATCCAGAAGGCATGGCCAGTTATTCCCAGGGACCCTGCCCAAGCACCAGCCATCCCAGGGCTGGCCCCAAGACCAAAAACTTGCACTGCAGAGCTGTTTCCCTCTGCTATTAATTTAGACATTTACACAATAACAGATAAAGGTATTAAGTGAGGCAGAAATAAGCATGTCTTCTCCCAGGAGAAATAACCTTTCCACCATCTTTGATTCTTTACTGCAGGGAAGCCAGGAGGAAGGAAGTGGGAAAGAAAGAGATAAGCTTTCCTCGAGTCTTCAGAGGGTCTCACTGTAAACCAAAGTGCCCCTGCCTGCAGAGTTCCAGGTTGCAAAGAAATTACTTCATAGCAAATTGTTTGTTTGTTTGCCAGACTCAAAATGGGGCTGTGATTCAAGGAGAGGGTAGGGCCTGTTTTGCTGAAGGTGGGTGAGATGGCTGTCCTACATCACACTGTGTGGCAAAGGGCAGTTTCCAGAGAGTCAGCTTTCTGCAGCTCCTTTGAAAGCCAAGCTCTTCAGGGCCTCAAGACAGGGCCTTATGGGGGATAAGGCCGGATGCCAAGAGGCCAACTTCAGCTCCTCTCTACCCCATGACCCACCACTCCTTCCTGTGGCCCCAGTACCCATATGCCAGCTGAGAGAACCCAACTAAGGCCTGAGGACCCATCCTCAGCTTCACACTTTACTACAAAGAATGCAGCACACCTGCTAATGAGTCATGGGCCCCAGGAGGATGGTTTCAGCATCT
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Task1_train_21708
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Mutation context: Chromosome 15, Gene LOC126862173, HCN4, LOC105370890 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:73635762-73636961| hyperpolarization activated cyclic nucleotide gated potassium channel 4| uncharacterized LOC105370890). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Brugada syndrome 8
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GCTAAGGCTTTATAAACATCAGGTACAACTTATACCTATTTTGCAGATAAAGAGACTGAGGCACAGAGAGGCAAAGTGGACCCAAAGCTACATGCTAGGCAGTGTGGAGCCGGGATTTTAACTTGGGTCTTAAATGCGCCATTCCACTACACCGGGGTGGGACAGCCCACACTATGTGCTGGGGGCCAAGAGGGCTAGCTGGATTCTGTCCCAGTTCTACCAGAGGTCTAACTGCATGACCTTGGGAGAGTCACGGCCCCTCTCTGTCAGCATAAGTAATGTGAATTTTCCAAGCCAAAGAGAATTTCTGCCATGGAGGGACGCTGCCAAACTGGTGCACACACTTCTCCTATGGCACATGCGTTCATGACGCCTCTGACCATCAGCCATAGGTGCTGCCAGTCGAGGCCCAGGCTGCTGCTGGGGGTGAGCATGGGGGGCTTCATGTCCTGAACATGGGAACTTCTGCCAGGCAAGCAGGGGGTCCTGGAGGCTGGGAAGTCAGCCACGCGGCACAGGGATGGAGCGGGAAATGGCCCTCCATGGAAGCTTGTCCCGCCCACAGGTGGCAGGGATCCAAGGTGGGCTGTCTCACAGAGAGAGTAGGCCCTCCAGGCTGGCCTGCCTGCCGCTGCTGCCAAGTTGTGTAACTTGGGTGGGTGGCAGACACAGACCGAAGCACTTGGCAAGGTCAGCTGCTCTTCCTCCCAGCAAAGCCCTTAGCTCCTCTGCTGCAGATGACTGCTTCAGCCCATGGATGAGTGAGGTTTGTTCACAATGCAGTTGGTCCGCCCAGTTCTTTTTCAATGTTTTATTTTCCTCCTGTAGCCAGTGTTCACAGCCCCTAGGATCCCTTTACAGTTTCTGAGCACAAGACTCCAACTTGCCCGCGTGATTTCACTCTCTACAGCCAGCGGCCGCACCTTTTGTCAGAGGCCTGCCCGGGCTGCTGGAAACTGCTTTGGCTGTGAGTGCTGAGGGCTGGCAGTGCCTTGAACCAATGACTGACAGGTAAGGGGATATAAACATTCCAACTCCCTTGCCCTGACTGGGACAACTCCAAGGTGTGGCGCACACTATCCTCAGATCCCATAGGGCTGAGGCAAACAGCCATCCACAGGACACCCTCCAATGTCCAACCATTGCTTGGCTTCCTGCCTTTCCCTGTCCCTCTCCCCAGTCCCCTTACCAGATTTTCCTGGGAATGCATCCCCAAAACATCCCTTTCATGCAAATCTTTGTCTCAGGTTCTGCTCAGGAAGAACCCAAACTAAGAGAGTTGCCAACAAAATTTGTATAAAAATCCAGATTTCCATTTCTCATAATGCTATAGATCTAGCAACCCTGGGCCCATTCCCACTTGACAAAAATTAGCTGGAGCTGCATAGAGGCCACCCAATATAACGGAGATGTTCTCTAGTTCTTCTCATCCACCACACTGTCTACTGTCCCCCAACTGGCCCTTTTCACCCATCCCTATTCCCTGCCTGTCCCCAACAAGTTTATGGGTTTACAAACCCTACAACATAACGCAGTGGTTAATAATGTGGGCTCTAGAGGTGATCGGCTTAAGTTCACATTCCAGGTTCACAAATTACTAATCATGCAACCTTGTATAAGTCACTTAATATTTCTGTCTGTTTCTTCAGGTGAAAAATGAGTATATACATGTACCTATATGGTTCCCTCTATAGCTGTTACACACTTCATTGAGATACTGCATGTAAAGTATCCAGCACATGATAAGAGGTCAAGAACTTACTAGTATTTGTCCTCTTGGAGCAGGTGTGCCTGCCACAATCTGACAGCCTATGTTCAATTATCTGAGGTTCCCTGCCAGTTCCTCACTCCCTCTGTGGGGAGTGGCCTTTCCCCCAAGAGGTTTGCACTGACCACTTACCTCTTCCCACTGGTGAATATATCGAATGAGGCGGGAGAGGCGTAACAGGCGTAAGAGGCTGAGGATCTTCGTGAAGCGGACAATGCGCAGGGCCCGGGCAGTCTTGTAGACCTCCGAGTCGATGCGTGTCTCCACAATGAGGAAGATGTAGTCCACGGGGATGGAGGAAATGAAATCTACCATGAACCAGCTTTTCAGGTACTTCATTTTAATCCGCTGCGGGTCCAGGATGATCTCTGTGTTGTCCTCCACCACGATCCCTGTGCGGAAGTTGAGGACCAAGTCGATGAGGAAGAATGTGTCTGACACCACATTGAAGACAATCCAGGGTGTGGTGTTCTCATCCTTGAAGAAGGTGATGCCCACAGGAATGATAATCAGGTTTCCCACCATCAGCAGCAGCATGGTCAGGTCCCAGTAAAATCTGCCCAGAGACACAGGGGTCAGTCGCCAGGAAGAGAGAGAGGACAAGTTACAGACTAAGGGAGGAAGATCTGAGGGACAGCATCTGGGACAGAGAAGTCTTGGGAGGTTCTGAGACAGGAAGACAGGCACATGGGTACCAGGGCAAGATGTGGAGATTGGCACAGGGAATGACACAATAAGAGGCTCTTCATTCACTAAGGATACCCTCCGTGCTGCCCTTCTGTGAGTTTCCCCGAGCCCCAACAACAAGCTTCCTCCTCCCATCCCCAGCCCGCAGTAAGAGTCAGGCTGAAAAGCAAATCAGTGACACTCAGAGAGAAGCAAGAGGCTGTTTTAGCAAAAGGAGCAGCTCACCCCACACCACCCCAGGCTCAGGCTAGGCTGCCCCATCCTCCCTGAGGGTCAGCTGTGGCTTGAGATGGGCTGTCAGGGAGACATTCCACAGACCATGACCAAAGAGCAGGGGAGGTACAGACATGACTCAGGTGCCTGGAAGGCAGGAGGCCCAGGCTCCGGCCCCAGCTTTGTCATCAACATGCTATGTGACATCCGGAAGGGCCTCCCTATTCTGGGCCTCAGTTTCCTCACTGTGTAATGAGTCCTATCATTCTGATCTGGCCCTCTCCCAAACTGGTTCTCTGGCATCCACCTTTAGTCCATCCCCTATAATCAGAAAATGTCTGACCATCTCCTTCCCTCAGAGGTTTGCATCCTAACATGGGGGTGTGGAGGGGGAGAGATAGCTTCAAAACAAGAATAATTAATGGGGGGATTTCAGGCACCAGTGAGATACCACTCAATGTGATAGAAAGAGACCAGCCCAGGGCTTCCAGAATCATTTCTCCTAAGGCCTCAGGCACCTTCAAGTCGTTTGTAGAGGGAGCCTCAGGGCAAAGCCTTGGAGAAGTTGAGCAGCATGAGGAGGAGGCACAACACCAACTCACAGGTCTGTGGTGGGTTTCTCCCAACTCACCAAGCAGGGGGCCTTCTGGAGTGTGGAAACAACACAGGTGGCCAAGACCCCAATCCAGAAGGCATGGCCAGTTATTCCCAGGGACCCTGCCCAAGCACCAGCCATCCCAGGGCTGGCCCCAAGACCAAAAACTTGCACTGCAGAGCTGTTTCCCTCTGCTATTAATTTAGACATTTACACAATAACAGATAAAGGTATTAAGTGAGGCAGAAATAAGCATGTCTTCTCCCAGGAGAAATAACCTTTCCACCATCTTTGATTCTTTACTGCAGGGAAGCCAGGAGGAAGGAAGTGGGAAAGAAAGAGATAAGCTTTCCTCGAGTCTTCAGAGGGTCTCACTGTAAACCAAAGTGCCCCTGCCTGCAGAGTTCCAGGTTGCAAAGAAATTACTTCATAGCAAATTGTTTGTTTGTTTGCCAGACTCAAAATGGGGCTGTGATTCAAGGAGAGGGTAGGGCCTGTTTTGCTGAAGGTGGGTGAGATGGCTGTCCTACATCACACTGTGTGGCAAAGGGCAGTTTCCAGAGAGTCAGCTTTCTGCAGCTCCTTTGAAAGCCAAGCTCTTCAGGGCCTCAAGACAGGGCCTTATGGGGGATAAGGCCGGATGCCAAGAGGCCAACTTCAGCTCCTCTCTACCCCATGACCCACCACTCCTTCCTGTGGCCCCAGTACCCATATGCCAGCTGAGAGAACCCAACTAAGGCCTGAGGACCCATCCTCAGCTTCACACTTTACTACAAAGAATGCAGCACACCTGCTAATGAGTCATGGGCCCCAGGAGGATGGTTTCAGCATCT
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GCTAAGGCTTTATAAACATCAGGTACAACTTATACCTATTTTGCAGATAAAGAGACTGAGGCACAGAGAGGCAAAGTGGACCCAAAGCTACATGCTAGGCAGTGTGGAGCCGGGATTTTAACTTGGGTCTTAAATGCGCCATTCCACTACACCGGGGTGGGACAGCCCACACTATGTGCTGGGGGCCAAGAGGGCTAGCTGGATTCTGTCCCAGTTCTACCAGAGGTCTAACTGCATGACCTTGGGAGAGTCACGGCCCCTCTCTGTCAGCATAAGTAATGTGAATTTTCCAAGCCAAAGAGAATTTCTGCCATGGAGGGACGCTGCCAAACTGGTGCACACACTTCTCCTATGGCACATGCGTTCATGACGCCTCTGACCATCAGCCATAGGTGCTGCCAGTCGAGGCCCAGGCTGCTGCTGGGGGTGAGCATGGGGGGCTTCATGTCCTGAACATGGGAACTTCTGCCAGGCAAGCAGGGGGTCCTGGAGGCTGGGAAGTCAGCCACGCGGCACAGGGATGGAGCGGGAAATGGCCCTCCATGGAAGCTTGTCCCGCCCACAGGTGGCAGGGATCCAAGGTGGGCTGTCTCACAGAGAGAGTAGGCCCTCCAGGCTGGCCTGCCTGCCGCTGCTGCCAAGTTGTGTAACTTGGGTGGGTGGCAGACACAGACCGAAGCACTTGGCAAGGTCAGCTGCTCTTCCTCCCAGCAAAGCCCTTAGCTCCTCTGCTGCAGATGACTGCTTCAGCCCATGGATGAGTGAGGTTTGTTCACAATGCAGTTGGTCCGCCCAGTTCTTTTTCAATGTTTTATTTTCCTCCTGTAGCCAGTGTTCACAGCCCCTAGGATCCCTTTACAGTTTCTGAGCACAAGACTCCAACTTGCCCGCGTGATTTCACTCTCTACAGCCAGCGGCCGCACCTTTTGTCAGAGGCCTGCCCGGGCTGCTGGAAACTGCTTTGGCTGTGAGTGCTGAGGGCTGGCAGTGCCTTGAACCAATGACTGACAGGTAAGGGGATATAAACATTCCAACTCCCTTGCCCTGACTGGGACAACTCCAAGGTGTGGCGCACACTATCCTCAGATCCCATAGGGCTGAGGCAAACAGCCATCCACAGGACACCCTCCAATGTCCAACCATTGCTTGGCTTCCTGCCTTTCCCTGTCCCTCTCCCCAGTCCCCTTACCAGATTTTCCTGGGAATGCATCCCCAAAACATCCCTTTCATGCAAATCTTTGTCTCAGGTTCTGCTCAGGAAGAACCCAAACTAAGAGAGTTGCCAACAAAATTTGTATAAAAATCCAGATTTCCATTTCTCATAATGCTATAGATCTAGCAACCCTGGGCCCATTCCCACTTGACAAAAATTAGCTGGAGCTGCATAGAGGCCACCCAATATAACGGAGATGTTCTCTAGTTCTTCTCATCCACCACACTGTCTACTGTCCCCCAACTGGCCCTTTTCACCCATCCCTATTCCCTGCCTGTCCCCAACAAGTTTATGGGTTTACAAACCCTACAACATAACGCAGTGGTTAATAATGTGGGCTCTAGAGGTGATCGGCTTAAGTTCACATTCCAGGTTCACAAATTACTAATCATGCAACCTTGTATAAGTCACTTAATATTTCTGTCTGTTTCTTCAGGTGAAAAATGAGTATATACATGTACCTATATGGTTCCCTCTATAGCTGTTACACACTTCATTGAGATACTGCATGTAAAGTATCCAGCACATGATAAGAGGTCAAGAACTTACTAGTATTTGTCCTCTTGGAGCAGGTGTGCCTGCCACAATCTGACAGCCTATGTTCAATTATCTGAGGTTCCCTGCCAGTTCCTCACTCCCTCTGTGGGGAGTGGCCTTTCCCCCAAGAGGTTTGCACTGACCACTTACCTCTTCCCACTGGTGAATATATCGAATGAGGCGGGAGAGGCGTAACAGGCGTAAGAGGCTGAGGATCTTCGTGAAGCGGACAATGCGCAGGGCCCGGGCAGTCTTGTAGACCTCCGAGTCGATGCGTGTCTCCACAATGAGGAAGATGCAGTCCACGGGGATGGAGGAAATGAAATCTACCATGAACCAGCTTTTCAGGTACTTCATTTTAATCCGCTGCGGGTCCAGGATGATCTCTGTGTTGTCCTCCACCACGATCCCTGTGCGGAAGTTGAGGACCAAGTCGATGAGGAAGAATGTGTCTGACACCACATTGAAGACAATCCAGGGTGTGGTGTTCTCATCCTTGAAGAAGGTGATGCCCACAGGAATGATAATCAGGTTTCCCACCATCAGCAGCAGCATGGTCAGGTCCCAGTAAAATCTGCCCAGAGACACAGGGGTCAGTCGCCAGGAAGAGAGAGAGGACAAGTTACAGACTAAGGGAGGAAGATCTGAGGGACAGCATCTGGGACAGAGAAGTCTTGGGAGGTTCTGAGACAGGAAGACAGGCACATGGGTACCAGGGCAAGATGTGGAGATTGGCACAGGGAATGACACAATAAGAGGCTCTTCATTCACTAAGGATACCCTCCGTGCTGCCCTTCTGTGAGTTTCCCCGAGCCCCAACAACAAGCTTCCTCCTCCCATCCCCAGCCCGCAGTAAGAGTCAGGCTGAAAAGCAAATCAGTGACACTCAGAGAGAAGCAAGAGGCTGTTTTAGCAAAAGGAGCAGCTCACCCCACACCACCCCAGGCTCAGGCTAGGCTGCCCCATCCTCCCTGAGGGTCAGCTGTGGCTTGAGATGGGCTGTCAGGGAGACATTCCACAGACCATGACCAAAGAGCAGGGGAGGTACAGACATGACTCAGGTGCCTGGAAGGCAGGAGGCCCAGGCTCCGGCCCCAGCTTTGTCATCAACATGCTATGTGACATCCGGAAGGGCCTCCCTATTCTGGGCCTCAGTTTCCTCACTGTGTAATGAGTCCTATCATTCTGATCTGGCCCTCTCCCAAACTGGTTCTCTGGCATCCACCTTTAGTCCATCCCCTATAATCAGAAAATGTCTGACCATCTCCTTCCCTCAGAGGTTTGCATCCTAACATGGGGGTGTGGAGGGGGAGAGATAGCTTCAAAACAAGAATAATTAATGGGGGGATTTCAGGCACCAGTGAGATACCACTCAATGTGATAGAAAGAGACCAGCCCAGGGCTTCCAGAATCATTTCTCCTAAGGCCTCAGGCACCTTCAAGTCGTTTGTAGAGGGAGCCTCAGGGCAAAGCCTTGGAGAAGTTGAGCAGCATGAGGAGGAGGCACAACACCAACTCACAGGTCTGTGGTGGGTTTCTCCCAACTCACCAAGCAGGGGGCCTTCTGGAGTGTGGAAACAACACAGGTGGCCAAGACCCCAATCCAGAAGGCATGGCCAGTTATTCCCAGGGACCCTGCCCAAGCACCAGCCATCCCAGGGCTGGCCCCAAGACCAAAAACTTGCACTGCAGAGCTGTTTCCCTCTGCTATTAATTTAGACATTTACACAATAACAGATAAAGGTATTAAGTGAGGCAGAAATAAGCATGTCTTCTCCCAGGAGAAATAACCTTTCCACCATCTTTGATTCTTTACTGCAGGGAAGCCAGGAGGAAGGAAGTGGGAAAGAAAGAGATAAGCTTTCCTCGAGTCTTCAGAGGGTCTCACTGTAAACCAAAGTGCCCCTGCCTGCAGAGTTCCAGGTTGCAAAGAAATTACTTCATAGCAAATTGTTTGTTTGTTTGCCAGACTCAAAATGGGGCTGTGATTCAAGGAGAGGGTAGGGCCTGTTTTGCTGAAGGTGGGTGAGATGGCTGTCCTACATCACACTGTGTGGCAAAGGGCAGTTTCCAGAGAGTCAGCTTTCTGCAGCTCCTTTGAAAGCCAAGCTCTTCAGGGCCTCAAGACAGGGCCTTATGGGGGATAAGGCCGGATGCCAAGAGGCCAACTTCAGCTCCTCTCTACCCCATGACCCACCACTCCTTCCTGTGGCCCCAGTACCCATATGCCAGCTGAGAGAACCCAACTAAGGCCTGAGGACCCATCCTCAGCTTCACACTTTACTACAAAGAATGCAGCACACCTGCTAATGAGTCATGGGCCCCAGGAGGATGGTTTCAGCATCT
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Task1_train_21709
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The gene REC114 (REC114 meiotic recombination protein), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Oocyte maturation defect 10
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CACTTATAAGTGGGAGCTAAATGATGAGAACACATGAATACATAGAGGGGAACAACACACACTGGGGCCTTTTGGAGGTAGAGGAAGGAGAGGATCAGGAAAAATAACGAATGGGTACTAGGCTTAATACCTGGGTGACGCAATAATCTGTACAACAAACTCCCATGACACAAGTTTACCTATGTAAAAAACCTGCACTTGGACCCTTGAACTTAGAATAAAAGTTAAAAAAAAAAATTATGAGATCTTGTTACTTACAACAACATGGATGGAACTGGGGGTCATTACGTTAAGTGAAATAAACCAGGCACAGAAAGACAAACATCACATATTCTCACTTATTTGTGGGATCTAAAAATCAAAACAATTGAACTCGTGGAGATAAAGAGTAGAAGGATGGTTGCCAGAGGCTGGGAAGGGTAGTGGGGATGGTTAATGGGTCCAAAAAAAGAAAGAATGAACAGGACCTAGTATTTGATAGCACAACAGGATGACGATAATGGAAATTTTTAAATACACGAGTATGGTTGGATTGTTTGTAACACAAAGGATAAGTGCTTGAGGGGATGGATACCCCATTTTCCATGATGTGATTATTACTCATTGAATGCCTGTATCAAAACATCTCATGTACCTCATAAATATATACACACCTATGTACCTAAAATTTTAGAAATTAAATATACATGAGTGTTTGTATATATTCTTTTATACACCCACAGATATATATGACTCTTCATATTTTTTCCAATGTTGGATAAGATAATGATAATGGATGACTTTTATATTCAGGGGGAAAAATTAAATGAATTAAAATATAAAGAGTACCAAATACTGGCAGTGAAAAGGGGCAGTGGTGCCTATTCTTCTAAACATGATAGCTTACCATTATCTCAGCCATGCCAAGAGTTTTCTGTAATCTAAATATATGGCTTTACTTGATGGGTTTATTTAAATAGTGTAAATTATGAACAGGAAAATCAAGGACTATTTATTTGCTTATAGGAACTTACAGGATTTTGTTAACTGTAGTTAGGAGTGTTTTCAAGGAAGCAACATGGTATATATATTTCATGAGGGAAAAGGACTGTCACTGTGCTAAGCTTAGCATCTACATTTCTTTACAGAAGAAACTGATGAAAGGTATACAATATATACAGTCCTGTTTCGGGAGGCTTTTATGTAGGTTGACTCCTCTAAACTAGGCAGAGTAGTAGACTAGAAAAAAGGGAAACTATTCTAAAATGGTTTTATGTTATTGTTATAATCTAGATGTTTTTACACTTAGATGTTTTTATACTTGTAATCAAATAAGTTTGATGTAGTTGACAGATTTTTAAAATTTTTTAATTGCATCTGTCCCACATTTGCTAATTTGCCAAGGGATGTGACTCATACAGCAAATTAAAGACAGCCTTTCACTATGCAACTTGTATGGTAGTCTGGCCTCTTTAAGGATAAAGGGTACTACAGATCATTAGCATGAGATCTATTAGCTTTGAGCATCTGCCTGTCACTCTTCCCCAGTATTGTTTAAGCTCACTGCCTTGTTTAACATAGTTATCTACCTGGTTTGGTATTACTCAGTTTAGAAAAGTTTTGAGCAGGACTATGCTTGCTGTATTATTATCCTCACAGATTTTTCACTTAGGGAATTAGAAGCTATGAAATCTTTATTCCAAAGCACGATAAAACACTGATCTGCAATCAGTATAGTGATCTTCCTGTCTTTATGATATGAGCTTTTCCACTGTTGCTGATGTCACTTCCCAGAGGGAAGTGAATTTTAGTATGATGAACAACTCCCAAAAGGGGGAAGAAAATGAATTATTGGCTTTTCTATGCCTGCATCAATAAGTGAAGATGACTGTTCCCTTATCTATACCTCTTCCTCCGCCAAGCAAAGGAAACACTCAGTGGAAGACCCCAAAGTAAATAGTTATATGATGAGGGTCTCTCATGATAACTTTTGATTTGTCAAACAGGACAAGAGTCGCCTGTTTCGAGTACAGTTCAGTGGAGAGTCAAAGGAGCAGGCGCTGGAACACTGCTGCAGTTGTGTTCAGAAGCTGGCACAATACATAACCGTGCAGGTGCCTGATGGAAACATCCAGGAGCTTCAGCTGATTCCTGGCCCACCCAGGGCAACTGAAAGTCAAGGGAAGGATTCTGCAAAGAGTGTCCCACGGCAGCCTGGAGTAAGTAGGCTGATGTGTTGGTTATACAGGAAACATGACAATGCAGTGCACAATGAGTGGCCAAAATGACAGTGGAGTTTGTCAAGTCTGTTAGGTTTGTAGTTTAAAAAACATCTATGTTCGGTGACTTTTTAAAATTGAGGTCGATACTCATTGTAGCTCCCTATTCAGAAATTAGGCAGGGAGGAGTTCCAGCTGCATTCTGGGTGTCACTACAGAACAGTGGTTCTCAAAGTGTGGTCCACGAACCCCTCCCTAGGACTCTTCCAGGGGGCCCACAAGGTCAAAATTATTTTTCTTAATATTTAAAGAAAGAGTATCACTTGCCTTTTTCACTGTGTCAACATTTGAATTGATGACACAAAGGCATCGTAAGGCTGCTGTCATCTCATACAGATCAGGCAGTGGCACCAAACTGTACTAATAGTCATCATGTTCCAATCATTCGCAGTAAGAACAAACTAACGAAATAACCCTGCAGTCTGCAGTACCATGGCTGTCTCAAGGGAACGCACCTGTGTGACATTTGTATTTTGAACTAGCCTCTTTTTTCATAAAATACCATCATTATGTGAGAGAACAACAGACTATGGTAATTCAGATTTGGGTATTTGGCAGACATTTTCTCAAAAATCAGTGAAATGAACTATCACTTCAGGAAAACAACTGATAGTATTTATTGAAAATGATAAAATTTAAGCTTCCAAGTGAAAATTAGAATCTTGAAAAACTTGTATCTGCCACATGAGCTTCACAACTTCCCAACCCGGAAGACTTTTCTAAAGGTGCTATTAATAAATGTGATTTACTTGTTTATAAGTAATTACCTGATGAAATGTGTCAATATTTGAAAGACAGTATATTCAGTGAATCAGTATTGTCCAGATGACCGATGCCTGAATGCCACAAAATTATACGTGGATAAAGAGCTATTCAAAAGTGTAAGATAGGCTAAAAGATTGTAATATAACAGTATAACAAGTTTATTGCCATGGTTTCAGATTCTATATTGCAACTTAACTTTAAGCAACTCACTCGTTGAGTTTTGGTGTTGTATCAAGGAATATCCACAGTTATCTGAACAGGCTATTCTAAAATACCCCTCCCTTCTCCATCTATAATTTGTGTGAGGCCAGATTTTCTTCATGTCTTCAACCAAAGCAGCACATTACAGCAAACTGAATGCAGCAGCAAATATAAGAATCTAGTCACCTTCTACTAAACTAGGTAGTAAAGAGATTTGCAAAAATCATTATTTTGTTTTAGAAAAGTTATTTTCCATAAAATGTTTTCAACATTAACGTAAAGTGGGTTTATTATTTTTAATGAACATTTTTAAATTCCGTGTTAGTTTCTAATATGATAAATACCAGATAAATGTAACTCAGATGAAAGTTCTTTGAAGGCCTCATAAGGGGTCTTGTGATAAAAAAGTTTGAGACTCATGACTATAGAATTTCTCCCAGAAATATGTGTTCTGCATTTCTTTGGCAGTTTCAAATATTATTGGAATAAGCACCTACCTCTGTTCTTGAGATGAGATACTACTTTCAAGCTGGGTTTTGCATTTGCTTTGAGAAGTGATTTTTCCAAACCTGGTTTTCCATTACTTCATCATGTTAGTTTTCCTTAACCAAAACACCTCATTTTTGCTGTTTTGTCACTATGTTTCTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGAAGTGTGCAATGGCACGATCTCGGCTCACTGCAACCTGGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCATTATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTC
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CACTTATAAGTGGGAGCTAAATGATGAGAACACATGAATACATAGAGGGGAACAACACACACTGGGGCCTTTTGGAGGTAGAGGAAGGAGAGGATCAGGAAAAATAACGAATGGGTACTAGGCTTAATACCTGGGTGACGCAATAATCTGTACAACAAACTCCCATGACACAAGTTTACCTATGTAAAAAACCTGCACTTGGACCCTTGAACTTAGAATAAAAGTTAAAAAAAAAAATTATGAGATCTTGTTACTTACAACAACATGGATGGAACTGGGGGTCATTACGTTAAGTGAAATAAACCAGGCACAGAAAGACAAACATCACATATTCTCACTTATTTGTGGGATCTAAAAATCAAAACAATTGAACTCGTGGAGATAAAGAGTAGAAGGATGGTTGCCAGAGGCTGGGAAGGGTAGTGGGGATGGTTAATGGGTCCAAAAAAAGAAAGAATGAACAGGACCTAGTATTTGATAGCACAACAGGATGACGATAATGGAAATTTTTAAATACACGAGTATGGTTGGATTGTTTGTAACACAAAGGATAAGTGCTTGAGGGGATGGATACCCCATTTTCCATGATGTGATTATTACTCATTGAATGCCTGTATCAAAACATCTCATGTACCTCATAAATATATACACACCTATGTACCTAAAATTTTAGAAATTAAATATACATGAGTGTTTGTATATATTCTTTTATACACCCACAGATATATATGACTCTTCATATTTTTTCCAATGTTGGATAAGATAATGATAATGGATGACTTTTATATTCAGGGGGAAAAATTAAATGAATTAAAATATAAAGAGTACCAAATACTGGCAGTGAAAAGGGGCAGTGGTGCCTATTCTTCTAAACATGATAGCTTACCATTATCTCAGCCATGCCAAGAGTTTTCTGTAATCTAAATATATGGCTTTACTTGATGGGTTTATTTAAATAGTGTAAATTATGAACAGGAAAATCAAGGACTATTTATTTGCTTATAGGAACTTACAGGATTTTGTTAACTGTAGTTAGGAGTGTTTTCAAGGAAGCAACATGGTATATATATTTCATGAGGGAAAAGGACTGTCACTGTGCTAAGCTTAGCATCTACATTTCTTTACAGAAGAAACTGATGAAAGGTATACAATATATACAGTCCTGTTTCGGGAGGCTTTTATGTAGGTTGACTCCTCTAAACTAGGCAGAGTAGTAGACTAGAAAAAAGGGAAACTATTCTAAAATGGTTTTATGTTATTGTTATAATCTAGATGTTTTTACACTTAGATGTTTTTATACTTGTAATCAAATAAGTTTGATGTAGTTGACAGATTTTTAAAATTTTTTAATTGCATCTGTCCCACATTTGCTAATTTGCCAAGGGATGTGACTCATACAGCAAATTAAAGACAGCCTTTCACTATGCAACTTGTATGGTAGTCTGGCCTCTTTAAGGATAAAGGGTACTACAGATCATTAGCATGAGATCTATTAGCTTTGAGCATCTGCCTGTCACTCTTCCCCAGTATTGTTTAAGCTCACTGCCTTGTTTAACATAGTTATCTACCTGGTTTGGTATTACTCAGTTTAGAAAAGTTTTGAGCAGGACTATGCTTGCTGTATTATTATCCTCACAGATTTTTCACTTAGGGAATTAGAAGCTATGAAATCTTTATTCCAAAGCACGATAAAACACTGATCTGCAATCAGTATAGTGATCTTCCTGTCTTTATGATATGAGCTTTTCCACTGTTGCTGATGTCACTTCCCAGAGGGAAGTGAATTTTAGTATGATGAACAACTCCCAAAAGGGGGAAGAAAATGAATTATTGGCTTTTCTATGCCTGCATCAATAAGTGAAGATGACTGTTCCCTTATCTATACCTCTTCCTCCGCCAAGCAAAGGAAACACTCAGTGGAAGACCCCAAAGTAAATAGTTATATGATGAGGGTCTCTCATGATAACTTTTGATTTGTCAAACAGGACAAGAGTCGCCTGTTTCGAGTACAGTTCAGTGGAGAGTCAAAGGAGCAGGCGCTGGAACACGGCTGCAGTTGTGTTCAGAAGCTGGCACAATACATAACCGTGCAGGTGCCTGATGGAAACATCCAGGAGCTTCAGCTGATTCCTGGCCCACCCAGGGCAACTGAAAGTCAAGGGAAGGATTCTGCAAAGAGTGTCCCACGGCAGCCTGGAGTAAGTAGGCTGATGTGTTGGTTATACAGGAAACATGACAATGCAGTGCACAATGAGTGGCCAAAATGACAGTGGAGTTTGTCAAGTCTGTTAGGTTTGTAGTTTAAAAAACATCTATGTTCGGTGACTTTTTAAAATTGAGGTCGATACTCATTGTAGCTCCCTATTCAGAAATTAGGCAGGGAGGAGTTCCAGCTGCATTCTGGGTGTCACTACAGAACAGTGGTTCTCAAAGTGTGGTCCACGAACCCCTCCCTAGGACTCTTCCAGGGGGCCCACAAGGTCAAAATTATTTTTCTTAATATTTAAAGAAAGAGTATCACTTGCCTTTTTCACTGTGTCAACATTTGAATTGATGACACAAAGGCATCGTAAGGCTGCTGTCATCTCATACAGATCAGGCAGTGGCACCAAACTGTACTAATAGTCATCATGTTCCAATCATTCGCAGTAAGAACAAACTAACGAAATAACCCTGCAGTCTGCAGTACCATGGCTGTCTCAAGGGAACGCACCTGTGTGACATTTGTATTTTGAACTAGCCTCTTTTTTCATAAAATACCATCATTATGTGAGAGAACAACAGACTATGGTAATTCAGATTTGGGTATTTGGCAGACATTTTCTCAAAAATCAGTGAAATGAACTATCACTTCAGGAAAACAACTGATAGTATTTATTGAAAATGATAAAATTTAAGCTTCCAAGTGAAAATTAGAATCTTGAAAAACTTGTATCTGCCACATGAGCTTCACAACTTCCCAACCCGGAAGACTTTTCTAAAGGTGCTATTAATAAATGTGATTTACTTGTTTATAAGTAATTACCTGATGAAATGTGTCAATATTTGAAAGACAGTATATTCAGTGAATCAGTATTGTCCAGATGACCGATGCCTGAATGCCACAAAATTATACGTGGATAAAGAGCTATTCAAAAGTGTAAGATAGGCTAAAAGATTGTAATATAACAGTATAACAAGTTTATTGCCATGGTTTCAGATTCTATATTGCAACTTAACTTTAAGCAACTCACTCGTTGAGTTTTGGTGTTGTATCAAGGAATATCCACAGTTATCTGAACAGGCTATTCTAAAATACCCCTCCCTTCTCCATCTATAATTTGTGTGAGGCCAGATTTTCTTCATGTCTTCAACCAAAGCAGCACATTACAGCAAACTGAATGCAGCAGCAAATATAAGAATCTAGTCACCTTCTACTAAACTAGGTAGTAAAGAGATTTGCAAAAATCATTATTTTGTTTTAGAAAAGTTATTTTCCATAAAATGTTTTCAACATTAACGTAAAGTGGGTTTATTATTTTTAATGAACATTTTTAAATTCCGTGTTAGTTTCTAATATGATAAATACCAGATAAATGTAACTCAGATGAAAGTTCTTTGAAGGCCTCATAAGGGGTCTTGTGATAAAAAAGTTTGAGACTCATGACTATAGAATTTCTCCCAGAAATATGTGTTCTGCATTTCTTTGGCAGTTTCAAATATTATTGGAATAAGCACCTACCTCTGTTCTTGAGATGAGATACTACTTTCAAGCTGGGTTTTGCATTTGCTTTGAGAAGTGATTTTTCCAAACCTGGTTTTCCATTACTTCATCATGTTAGTTTTCCTTAACCAAAACACCTCATTTTTGCTGTTTTGTCACTATGTTTCTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGAAGTGTGCAATGGCACGATCTCGGCTCACTGCAACCTGGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCATTATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTC
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Task1_train_21710
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Given a variant located on Chromosome 15 and affecting STRA6 (signaling receptor and transporter of retinol STRA6), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Matthew-Wood syndrome
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CATGCGCTAGGCCACCTTGGGTAAGTCATTGCCCACGTCTGGGCTTCAGTTGCCTCAAAAACCAAATGACATGGTAGGACTAGGTGCTACTTCATGGTCCAATAGACTCTGATTGCCTAAGGCTTGATATTCCCAGCCTGACTTGGACATCCCTGGCTCCATTCCTAGCTGAGTGGCTTGGCTTCTTGGAGTAGGACATGGACCTAAGACCTAACACAGGGAATGGCTGTGCCTTGAGTGGACTAGCTGCTCCCCTGCTTTAAGGTCTTCCGTGGTCCCCACTGCCCTCCAGGTAAAGCCTGAATTCCCCACTTAGAGCCTCTCTGACCTGCTCCTCCAACAAGCGCACCCTTCCTTCCTCTTCTTGGAACAGCTATTTAATTGTTCCCTTAATGTTCCATGGTGTGCCATCCTCTGCACCTTTGCTTATACTGTTCCCTCCGCCCAGGCACCCTTTCCCTGTTCTTCATTTGGCTAAGTCAGTCTTTGAGAGTGGGCTCTGGCATCACCACCTCCAGAAAGCCTTCCTGGATGTTCCCCCATCCCCAATGTGAACAGGCCCCCTTTCTCTGGGAACCTGGATTCTCCTCCCCTGAGACCCTGTTAGTTGCTGAAACAAGGTCAGGAAGCCTTTTTCAACGGGCTGCAGTGGGATCACAGTGTGCCCTCTTTGGCCTCCTCGGGGCAGCCTTGAAAGTGGGTTTCAGGTCCCTGACCCCACCCCTGGCTTTACAGGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTCCACACCTGGAGTCACACTGCTTCCCCAGCATTCCTGAAGTCGCTTCTCCTCCCCAGATCCTGCCCCTTCTTCAAGACCCAGAATAAGTCCCACTTCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGA
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CATGCGCTAGGCCACCTTGGGTAAGTCATTGCCCACGTCTGGGCTTCAGTTGCCTCAAAAACCAAATGACATGGTAGGACTAGGTGCTACTTCATGGTCCAATAGACTCTGATTGCCTAAGGCTTGATATTCCCAGCCTGACTTGGACATCCCTGGCTCCATTCCTAGCTGAGTGGCTTGGCTTCTTGGAGTAGGACATGGACCTAAGACCTAACACAGGGAATGGCTGTGCCTTGAGTGGACTAGCTGCTCCCCTGCTTTAAGGTCTTCCGTGGTCCCCACTGCCCTCCAGGTAAAGCCTGAATTCCCCACTTAGAGCCTCTCTGACCTGCTCCTCCAACAAGCGCACCCTTCCTTCCTCTTCTTGGAACAGCTATTTAATTGTTCCCTTAATGTTCCATGGTGTGCCATCCTCTGCACCTTTGCTTATACTGTTCCCTCCGCCCAGGCACCCTTTCCCTGTTCTTCATTTGGCTAAGTCAGTCTTTGAGAGTGGGCTCTGGCATCACCACCTCCAGAAAGCCTTCCTGGATGTTCCCCCATCCCCAATGTGAACAGGCCCCCTTTCTCTGGGAACCTGGATTCTCCTCCCCTGAGACCCTGTTAGTTGCTGAAACAAGGTCAGGAAGCCTTTTTCAACGGGCTGCAGTGGGATCACAGTGTGCCCTCTTTGGCCTCCTCGGGGCAGCCTTGAAAGTGGGTTTCAGGTCCCTGACCCCACCCCTGGCTTTACAGGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTCCACACCTGGAGTCACACTGCTTCCCCAGCATTCCTGAAGTCGCTTCTCCTCCCCAGATCCTGCCCCTTCTTCAAGACCCAGAATAAGTCCCACTTCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCATGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGA
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Task1_train_21711
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A variant was discovered in gene STRA6 (signaling receptor and transporter of retinol STRA6), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Anophthalmia-microphthalmia syndrome
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GGGTAAGTCATTGCCCACGTCTGGGCTTCAGTTGCCTCAAAAACCAAATGACATGGTAGGACTAGGTGCTACTTCATGGTCCAATAGACTCTGATTGCCTAAGGCTTGATATTCCCAGCCTGACTTGGACATCCCTGGCTCCATTCCTAGCTGAGTGGCTTGGCTTCTTGGAGTAGGACATGGACCTAAGACCTAACACAGGGAATGGCTGTGCCTTGAGTGGACTAGCTGCTCCCCTGCTTTAAGGTCTTCCGTGGTCCCCACTGCCCTCCAGGTAAAGCCTGAATTCCCCACTTAGAGCCTCTCTGACCTGCTCCTCCAACAAGCGCACCCTTCCTTCCTCTTCTTGGAACAGCTATTTAATTGTTCCCTTAATGTTCCATGGTGTGCCATCCTCTGCACCTTTGCTTATACTGTTCCCTCCGCCCAGGCACCCTTTCCCTGTTCTTCATTTGGCTAAGTCAGTCTTTGAGAGTGGGCTCTGGCATCACCACCTCCAGAAAGCCTTCCTGGATGTTCCCCCATCCCCAATGTGAACAGGCCCCCTTTCTCTGGGAACCTGGATTCTCCTCCCCTGAGACCCTGTTAGTTGCTGAAACAAGGTCAGGAAGCCTTTTTCAACGGGCTGCAGTGGGATCACAGTGTGCCCTCTTTGGCCTCCTCGGGGCAGCCTTGAAAGTGGGTTTCAGGTCCCTGACCCCACCCCTGGCTTTACAGGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTCCACACCTGGAGTCACACTGCTTCCCCAGCATTCCTGAAGTCGCTTCTCCTCCCCAGATCCTGCCCCTTCTTCAAGACCCAGAATAAGTCCCACTTCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCA
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GGGTAAGTCATTGCCCACGTCTGGGCTTCAGTTGCCTCAAAAACCAAATGACATGGTAGGACTAGGTGCTACTTCATGGTCCAATAGACTCTGATTGCCTAAGGCTTGATATTCCCAGCCTGACTTGGACATCCCTGGCTCCATTCCTAGCTGAGTGGCTTGGCTTCTTGGAGTAGGACATGGACCTAAGACCTAACACAGGGAATGGCTGTGCCTTGAGTGGACTAGCTGCTCCCCTGCTTTAAGGTCTTCCGTGGTCCCCACTGCCCTCCAGGTAAAGCCTGAATTCCCCACTTAGAGCCTCTCTGACCTGCTCCTCCAACAAGCGCACCCTTCCTTCCTCTTCTTGGAACAGCTATTTAATTGTTCCCTTAATGTTCCATGGTGTGCCATCCTCTGCACCTTTGCTTATACTGTTCCCTCCGCCCAGGCACCCTTTCCCTGTTCTTCATTTGGCTAAGTCAGTCTTTGAGAGTGGGCTCTGGCATCACCACCTCCAGAAAGCCTTCCTGGATGTTCCCCCATCCCCAATGTGAACAGGCCCCCTTTCTCTGGGAACCTGGATTCTCCTCCCCTGAGACCCTGTTAGTTGCTGAAACAAGGTCAGGAAGCCTTTTTCAACGGGCTGCAGTGGGATCACAGTGTGCCCTCTTTGGCCTCCTCGGGGCAGCCTTGAAAGTGGGTTTCAGGTCCCTGACCCCACCCCTGGCTTTACAGGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTCCACACCTGGAGTCACACTGCTTCCCCAGCATTCCTGAAGTCGCTTCTCCTCCCCAGATCCTGCCCCTTCTTCAAGACCCAGAATAAGTCCCACTTCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGGGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCA
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Task1_train_21712
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This mutation occurs in STRA6 (signaling receptor and transporter of retinol STRA6) on Chromosome 15. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Anophthalmia-microphthalmia syndrome
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GGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTCCACACCTGGAGTCACACTGCTTCCCCAGCATTCCTGAAGTCGCTTCTCCTCCCCAGATCCTGCCCCTTCTTCAAGACCCAGAATAAGTCCCACTTCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCATGTTCTGCAGGATCACAGCCAGGGCCAAAGTCAGCCAGAAGGGCCTGCCAGTGGGGTGGGGAGGTGGTCGCTGTTAGCGGACCTCTAAGGAGTCCCTGAGCCCTCCATGTCTTGTTTCACTCACCACGAGGACTCCAGGGAACGGAAGAGCAGGAGGTTCCTGCCATGGAGCACAGGCATGAGCACCAGGAAGGCCAGGGCCGTGGTTCCCAGGAAGAAGATGATCTGCTGCACCAGGAGCCCTGCCAGGGGCGGGAGTGGCAGGGGGACAGAAAACAGGTTCCATGAAAACTGGCCATCCCCGCTGCCCCCAGAACCAAGGGCTTTGGGATTGGGCAGGCCTGGTTTTAGATCTCTGCTCTGCCACTGCCTAGCTATGCTGCCTTGAACAAATCACTTTACTTCATTGAGCCTCAGTTTCTTCCTCTGTAAAATGGGGATAATAGTCCCTACCTCAGAGGCTGTTGTAAGGATCCAATGAGATAATGTCTGTGGAAACTCTTAAAATCACAAAATACTTTGCAAATGTTATTTCCCTCCAGTTTCTCCTGAGTTTGAGTTACTGGGGGATAAGGCTACATATTAAACTGATGTTTGCATTCCTTCAAGCCAGAGCCTGGCATACGGTAGGTGCCCAAGGACTGTCTATTGAAATAATCTGGCCAACTGATTAGAGAATGATGTCTACAAAAGGGCCTGGAGGCATAAGGGCTACC
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GGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTCCACACCTGGAGTCACACTGCTTCCCCAGCATTCCTGAAGTCGCTTCTCCTCCCCAGATCCTGCCCCTTCTTCAAGACCCAGAATAAGTCCCACTTCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGCATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCATGTTCTGCAGGATCACAGCCAGGGCCAAAGTCAGCCAGAAGGGCCTGCCAGTGGGGTGGGGAGGTGGTCGCTGTTAGCGGACCTCTAAGGAGTCCCTGAGCCCTCCATGTCTTGTTTCACTCACCACGAGGACTCCAGGGAACGGAAGAGCAGGAGGTTCCTGCCATGGAGCACAGGCATGAGCACCAGGAAGGCCAGGGCCGTGGTTCCCAGGAAGAAGATGATCTGCTGCACCAGGAGCCCTGCCAGGGGCGGGAGTGGCAGGGGGACAGAAAACAGGTTCCATGAAAACTGGCCATCCCCGCTGCCCCCAGAACCAAGGGCTTTGGGATTGGGCAGGCCTGGTTTTAGATCTCTGCTCTGCCACTGCCTAGCTATGCTGCCTTGAACAAATCACTTTACTTCATTGAGCCTCAGTTTCTTCCTCTGTAAAATGGGGATAATAGTCCCTACCTCAGAGGCTGTTGTAAGGATCCAATGAGATAATGTCTGTGGAAACTCTTAAAATCACAAAATACTTTGCAAATGTTATTTCCCTCCAGTTTCTCCTGAGTTTGAGTTACTGGGGGATAAGGCTACATATTAAACTGATGTTTGCATTCCTTCAAGCCAGAGCCTGGCATACGGTAGGTGCCCAAGGACTGTCTATTGAAATAATCTGGCCAACTGATTAGAGAATGATGTCTACAAAAGGGCCTGGAGGCATAAGGGCTACC
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Task1_train_21713
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The gene STRA6 (signaling receptor and transporter of retinol STRA6), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Matthew-Wood syndrome
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TCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCATGTTCTGCAGGATCACAGCCAGGGCCAAAGTCAGCCAGAAGGGCCTGCCAGTGGGGTGGGGAGGTGGTCGCTGTTAGCGGACCTCTAAGGAGTCCCTGAGCCCTCCATGTCTTGTTTCACTCACCACGAGGACTCCAGGGAACGGAAGAGCAGGAGGTTCCTGCCATGGAGCACAGGCATGAGCACCAGGAAGGCCAGGGCCGTGGTTCCCAGGAAGAAGATGATCTGCTGCACCAGGAGCCCTGCCAGGGGCGGGAGTGGCAGGGGGACAGAAAACAGGTTCCATGAAAACTGGCCATCCCCGCTGCCCCCAGAACCAAGGGCTTTGGGATTGGGCAGGCCTGGTTTTAGATCTCTGCTCTGCCACTGCCTAGCTATGCTGCCTTGAACAAATCACTTTACTTCATTGAGCCTCAGTTTCTTCCTCTGTAAAATGGGGATAATAGTCCCTACCTCAGAGGCTGTTGTAAGGATCCAATGAGATAATGTCTGTGGAAACTCTTAAAATCACAAAATACTTTGCAAATGTTATTTCCCTCCAGTTTCTCCTGAGTTTGAGTTACTGGGGGATAAGGCTACATATTAAACTGATGTTTGCATTCCTTCAAGCCAGAGCCTGGCATACGGTAGGTGCCCAAGGACTGTCTATTGAAATAATCTGGCCAACTGATTAGAGAATGATGTCTACAAAAGGGCCTGGAGGCATAAGGGCTACCAAGAAGAGACGCTATGACTTTTGTCCTAGTAATTCATCTACTCCTTTACCATCCTTCTCCTCCCGCAAGGAGGTGAGAATGGAAGGAACTGGAGGGAGAGATACAAGGCCCTTGGATGTGCAACCCAGGCCACAGCCCCTCACCATTCAGAGTGCTTTTCTCACTGCAGTACCCAAGGGGAGAGTCAGAAACTTGGGGCTGGTAGGGGTCCTGGAAGGTTATCTGGTCCAACTCTCTCAGGGCAGGACCCCCTTTGCAGACTGCAACAATATCCATGGAACTCTGCTTGCATACCCCCAGTGACAGGGATCTCATTACCTTTGTAGGTAGCCAAATGTGACACAGCCCTTTCTTAAGCTGGAGCGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGC
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TCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTGTGGGACCTGGTCTGAGTCATGACTTGGGCTGCCCTGCAGGCCAGAGGCCCGGGAGCTTTCCGGCCACTCCCCAGAGAGGTCCGTGGCGCTGAGGGGGTGAGGAAGTGCCTTGGCTGCTTCCACAGCGTGAAGGCCAAGGCTGAGGTGGAGCTGGGCTGGAGTGGTTCCAGAGAAGGCTTCATCGAGGCCCTTCAAGGCTGATGGCAGAGCCAGGGTAGGGAGACGCCTGGATGTGGCTGCCCTGGCTCAACTGGCTCCTGGACCAAGGCCCTAACCCACCAGTTTCTTTCTCCAGAACCCCTGCTGGCTCTCCCATAGCCAAGTGGGTGGAGCAGAGCCCTCCTGAGGCTCCCAGTGCAGACAGACCTCCACCCAACCACAGTGATCCGGAGGACCTGCTGGCTGCATGGCTGGTGTGATGCTGGGAGGAGAGCCGGGGAGGGAGGAGGATGGTAGGCAGGAACATGCCTCAGCACAGATGGGCAGGTGGGTTGACCTTCCCTGCCCTCAGGGCTGGGCACCATTGGCACCCAACAGGGCCGTCTTGCGGAAGACCTGCAGGGTTGGGTTGTGCAGCAGCGTGTAGGCCAGACCCCAGCGAGCCCTGCCGCGGCTGGCCCCGGGCCTAGCTCCCTTGGCCATGGAGTCCTTTGTCTGTAGCAGCTGCATCCCTGAGAGAGACGGACTTTCTGTGAGTCACTCAGCAAACACCCAGCCAACCCTCCCTGGCCCTCAGACCTGATCAGAGAGCCTGAAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTGGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCATGTTCTGCAGGATCACAGCCAGGGCCAAAGTCAGCCAGAAGGGCCTGCCAGTGGGGTGGGGAGGTGGTCGCTGTTAGCGGACCTCTAAGGAGTCCCTGAGCCCTCCATGTCTTGTTTCACTCACCACGAGGACTCCAGGGAACGGAAGAGCAGGAGGTTCCTGCCATGGAGCACAGGCATGAGCACCAGGAAGGCCAGGGCCGTGGTTCCCAGGAAGAAGATGATCTGCTGCACCAGGAGCCCTGCCAGGGGCGGGAGTGGCAGGGGGACAGAAAACAGGTTCCATGAAAACTGGCCATCCCCGCTGCCCCCAGAACCAAGGGCTTTGGGATTGGGCAGGCCTGGTTTTAGATCTCTGCTCTGCCACTGCCTAGCTATGCTGCCTTGAACAAATCACTTTACTTCATTGAGCCTCAGTTTCTTCCTCTGTAAAATGGGGATAATAGTCCCTACCTCAGAGGCTGTTGTAAGGATCCAATGAGATAATGTCTGTGGAAACTCTTAAAATCACAAAATACTTTGCAAATGTTATTTCCCTCCAGTTTCTCCTGAGTTTGAGTTACTGGGGGATAAGGCTACATATTAAACTGATGTTTGCATTCCTTCAAGCCAGAGCCTGGCATACGGTAGGTGCCCAAGGACTGTCTATTGAAATAATCTGGCCAACTGATTAGAGAATGATGTCTACAAAAGGGCCTGGAGGCATAAGGGCTACCAAGAAGAGACGCTATGACTTTTGTCCTAGTAATTCATCTACTCCTTTACCATCCTTCTCCTCCCGCAAGGAGGTGAGAATGGAAGGAACTGGAGGGAGAGATACAAGGCCCTTGGATGTGCAACCCAGGCCACAGCCCCTCACCATTCAGAGTGCTTTTCTCACTGCAGTACCCAAGGGGAGAGTCAGAAACTTGGGGCTGGTAGGGGTCCTGGAAGGTTATCTGGTCCAACTCTCTCAGGGCAGGACCCCCTTTGCAGACTGCAACAATATCCATGGAACTCTGCTTGCATACCCCCAGTGACAGGGATCTCATTACCTTTGTAGGTAGCCAAATGTGACACAGCCCTTTCTTAAGCTGGAGCGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGC
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Task1_train_21714
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Mutation context: Chromosome 15, Gene STRA6 (signaling receptor and transporter of retinol STRA6). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Anophthalmia-microphthalmia syndrome
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GTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCATGTTCTGCAGGATCACAGCCAGGGCCAAAGTCAGCCAGAAGGGCCTGCCAGTGGGGTGGGGAGGTGGTCGCTGTTAGCGGACCTCTAAGGAGTCCCTGAGCCCTCCATGTCTTGTTTCACTCACCACGAGGACTCCAGGGAACGGAAGAGCAGGAGGTTCCTGCCATGGAGCACAGGCATGAGCACCAGGAAGGCCAGGGCCGTGGTTCCCAGGAAGAAGATGATCTGCTGCACCAGGAGCCCTGCCAGGGGCGGGAGTGGCAGGGGGACAGAAAACAGGTTCCATGAAAACTGGCCATCCCCGCTGCCCCCAGAACCAAGGGCTTTGGGATTGGGCAGGCCTGGTTTTAGATCTCTGCTCTGCCACTGCCTAGCTATGCTGCCTTGAACAAATCACTTTACTTCATTGAGCCTCAGTTTCTTCCTCTGTAAAATGGGGATAATAGTCCCTACCTCAGAGGCTGTTGTAAGGATCCAATGAGATAATGTCTGTGGAAACTCTTAAAATCACAAAATACTTTGCAAATGTTATTTCCCTCCAGTTTCTCCTGAGTTTGAGTTACTGGGGGATAAGGCTACATATTAAACTGATGTTTGCATTCCTTCAAGCCAGAGCCTGGCATACGGTAGGTGCCCAAGGACTGTCTATTGAAATAATCTGGCCAACTGATTAGAGAATGATGTCTACAAAAGGGCCTGGAGGCATAAGGGCTACCAAGAAGAGACGCTATGACTTTTGTCCTAGTAATTCATCTACTCCTTTACCATCCTTCTCCTCCCGCAAGGAGGTGAGAATGGAAGGAACTGGAGGGAGAGATACAAGGCCCTTGGATGTGCAACCCAGGCCACAGCCCCTCACCATTCAGAGTGCTTTTCTCACTGCAGTACCCAAGGGGAGAGTCAGAAACTTGGGGCTGGTAGGGGTCCTGGAAGGTTATCTGGTCCAACTCTCTCAGGGCAGGACCCCCTTTGCAGACTGCAACAATATCCATGGAACTCTGCTTGCATACCCCCAGTGACAGGGATCTCATTACCTTTGTAGGTAGCCAAATGTGACACAGCCCTTTCTTAAGCTGGAGCGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCATCCTCCCGAATAGCTGGAACTGCAGGTGCACACCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTGGTCTTCATCTCCTGACTTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGAGCCCAGCCAGGAATGTACCATTTTGAATTTGACACCTCCAGACCTGGGTCCACCCCCATGTGAATACTTGGTGGCACCCAGGGTTCATCTCCATGTGGAGGGTACACACTCAATTTCCCGAGGGCTCCTGTACCCCCATCCTGAATAAGCTTCTTAAGGGCAGGGAAGGCAGGGGGGTCCCTCCTTCTTGCTGCTGCCCCAGAGCATTCCCAGACAAACTCTGAGGGCAGTACTTGCTGAGCACTCTTCTCCCCAACTGAGGCCAGTGTCTGAGGGGAGGCCCAGGCCAAGGCTGGGTGTGGCGGGCAAGGGAGGCTCACCAAGGCAGATAAAGGCTGTCTGGTAGGCACTGAAGCTCATCCAACAGAATATGGCTTGGCGGGAGGGATGGGGACTCCGATGCAAGGGACTCAAGTCCAGGGCAGCTCCTCGGTGCAGAGCTCGAAGGTTGGTCCTGGGGTGGGAGCCAGGGAGGCAGAGACCTCAGGGAGCAACACACTCTTCCTAAATCCTCCTCTGGGCCAGCAACTGGCCAAACTCCCAATAGAATTTCAACTCACAGCCATCAGCAGGGAAGCCCAGAACTGTGGGAGCCAGGAGGAGGCCACTAACCCAAGATATCTGGAAGAGGTGATATCTGGGTAGTCTTAAACAGTGAACGAGGAATACAAAACGAGGCAGAAGGCTCAACCTGAGCCAAGTCAGAAAAGTGAGAAACAACAGTGAGAATGGAAGTGACACACAGCACAGCCAACAGGTAAAGAGGCAAGGCAAGCACAGGCTGAGGAGCCTTGAATGCCAGAAGAAGGAGGGGTGACCTGTGGAAAAAGATCCCTGGGAAGAGCTCTGAGACCTGGCAAGTGCGCAGGAGACATGGGCCAGTTCTCTGACATGGGTAAGTGCTCGGGCTGCCCCTTCCACCTGCCCTGGGCCTTCAGTGCTCCTCACCACTCACCGCTG
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GTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCACACATCCTTCCTAGAAGAAGCTGGGTAGGCTCTATTCCCCCATTCCCAGTGGGAGGGCGCACCTTCGTCTTCCTCCCCTGGTCTGAGGCTGTCCTGGGGGGCTGCCATGGTCCTGGGTAGGAGGCTCTGCGCTTGCAGGAGCAGGGAGCAGAAGGCTGTCATGGCTGGATGCGACTGGCTGACTTCAATCTTCAAGAAGTTTCGGTACGTGTAGTAGCCTGGGGTGGGGTGGCGGATGGCAATGCTGGGGGAGCAGGGGCCACACTGGAGGCATCCAGACATCCCCTAACACACACACAGGGAGTGCACGTGCACTCCCTGCATCCAAGCATGTCGACACACCAAGCACGTGGCACATTGGCTGCATGGGCACGTGTGGACCTGCTAGAACACCCCACATCCACTGCACGTGCTGCAGGGCCACAGGAGGCACAGCGCAGGGGCACACAGGTGGCACATGCAGCTACAGGCATCGGTGTGAACTGATCAGCTGGCACGGCCCTGGGGCAGGGCAGATGCCTTCCTCACTGCTTGGGTAGCCTGAGCAATCCTCCAGCCCCGCCCAGTGACCTTACCGGGGTCGAGAGTGGCGGCTCTCGGTGGCAGCAGGCTGAGGTCCATCTGGCCAAGGTGGATGGCGTTGTAGAGGGCAGAGAGGAGCACTCGCCAGGTGGCCACCATGGCACCCACCAGCACATTGAGGGGGAAGAGAAGAAAGGTGGCTGCATAGAGCACTCGCCTAGGATGGGAGAAGAAAGCTGAGGCAGGCCGTTCCCCAGAGCTCCCTCCCCAGGGTCAGTGTCAGACCTGGATGCCCAGAACTGCTGTGTATTTACTGAGTGCCTACCATTTATTGCTATGTCTTCTGTGCACCCCACCCTGGGCAAGGCCTTCTCTCTTTCAACCCACCATGCTGGGAGATGGGAAACTGAGGCCCAGAGAGATTGGGAGACTTAGCCAAGGCTGTCAGCTATTCAGTGGCAGAGCTGGGCTTTAACTCTAGGTCCATCTGAGTCTTTCTATGACCCTGATGCCTCCCACCTCCCTTTTCTGGGTCCCCTGTCTGCTAATTCCAAGTTCCCCTGGGAGCCAAGGTTCTCCCACAGACTTGTCATCTGACAGGGAACTCCCTTGCTACAAAGTGGGGAGGGGCATGGTTTTAAGGAAACAGAGGATCCAGGGGAGAGCAGTACCGATTCCCAAAGCAAGAAAGGTTCACGGGGGTACTTCCAGCCCCATGCCGGGTATGTAGAGAGGTACTTTGGAGTGGGCTGAGCCATTGTCCCTTTTCTCTATGGGTAAGGCAAGCTCTTTCTACTATCATCTGGGTTCCTTGATAGAGAGAAGGGATAGATGGCAGTGGAGGGAGGACACAAAAAGAGAGAGACACCGAAGAAGAGGCGAGGGCCTGAGGGAGCCACAAGCCCAGATGCCACCTCACCGGTTGGTCAGCTGTGGGTGTCCATCATGAGTCTCCAGGAAGACCCAATGGGCTGCCATGTTCTGCAGGATCACAGCCAGGGCCAAAGTCAGCCAGAAGGGCCTGCCAGTGGGGTGGGGAGGTGGTCGCTGTTAGCGGACCTCTAAGGAGTCCCTGAGCCCTCCATGTCTTGTTTCACTCACCACGAGGACTCCAGGGAACGGAAGAGCAGGAGGTTCCTGCCATGGAGCACAGGCATGAGCACCAGGAAGGCCAGGGCCGTGGTTCCCAGGAAGAAGATGATCTGCCGCACCAGGAGCCCTGCCAGGGGCGGGAGTGGCAGGGGGACAGAAAACAGGTTCCATGAAAACTGGCCATCCCCGCTGCCCCCAGAACCAAGGGCTTTGGGATTGGGCAGGCCTGGTTTTAGATCTCTGCTCTGCCACTGCCTAGCTATGCTGCCTTGAACAAATCACTTTACTTCATTGAGCCTCAGTTTCTTCCTCTGTAAAATGGGGATAATAGTCCCTACCTCAGAGGCTGTTGTAAGGATCCAATGAGATAATGTCTGTGGAAACTCTTAAAATCACAAAATACTTTGCAAATGTTATTTCCCTCCAGTTTCTCCTGAGTTTGAGTTACTGGGGGATAAGGCTACATATTAAACTGATGTTTGCATTCCTTCAAGCCAGAGCCTGGCATACGGTAGGTGCCCAAGGACTGTCTATTGAAATAATCTGGCCAACTGATTAGAGAATGATGTCTACAAAAGGGCCTGGAGGCATAAGGGCTACCAAGAAGAGACGCTATGACTTTTGTCCTAGTAATTCATCTACTCCTTTACCATCCTTCTCCTCCCGCAAGGAGGTGAGAATGGAAGGAACTGGAGGGAGAGATACAAGGCCCTTGGATGTGCAACCCAGGCCACAGCCCCTCACCATTCAGAGTGCTTTTCTCACTGCAGTACCCAAGGGGAGAGTCAGAAACTTGGGGCTGGTAGGGGTCCTGGAAGGTTATCTGGTCCAACTCTCTCAGGGCAGGACCCCCTTTGCAGACTGCAACAATATCCATGGAACTCTGCTTGCATACCCCCAGTGACAGGGATCTCATTACCTTTGTAGGTAGCCAAATGTGACACAGCCCTTTCTTAAGCTGGAGCGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCATCCTCCCGAATAGCTGGAACTGCAGGTGCACACCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTGGTCTTCATCTCCTGACTTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGAGCCCAGCCAGGAATGTACCATTTTGAATTTGACACCTCCAGACCTGGGTCCACCCCCATGTGAATACTTGGTGGCACCCAGGGTTCATCTCCATGTGGAGGGTACACACTCAATTTCCCGAGGGCTCCTGTACCCCCATCCTGAATAAGCTTCTTAAGGGCAGGGAAGGCAGGGGGGTCCCTCCTTCTTGCTGCTGCCCCAGAGCATTCCCAGACAAACTCTGAGGGCAGTACTTGCTGAGCACTCTTCTCCCCAACTGAGGCCAGTGTCTGAGGGGAGGCCCAGGCCAAGGCTGGGTGTGGCGGGCAAGGGAGGCTCACCAAGGCAGATAAAGGCTGTCTGGTAGGCACTGAAGCTCATCCAACAGAATATGGCTTGGCGGGAGGGATGGGGACTCCGATGCAAGGGACTCAAGTCCAGGGCAGCTCCTCGGTGCAGAGCTCGAAGGTTGGTCCTGGGGTGGGAGCCAGGGAGGCAGAGACCTCAGGGAGCAACACACTCTTCCTAAATCCTCCTCTGGGCCAGCAACTGGCCAAACTCCCAATAGAATTTCAACTCACAGCCATCAGCAGGGAAGCCCAGAACTGTGGGAGCCAGGAGGAGGCCACTAACCCAAGATATCTGGAAGAGGTGATATCTGGGTAGTCTTAAACAGTGAACGAGGAATACAAAACGAGGCAGAAGGCTCAACCTGAGCCAAGTCAGAAAAGTGAGAAACAACAGTGAGAATGGAAGTGACACACAGCACAGCCAACAGGTAAAGAGGCAAGGCAAGCACAGGCTGAGGAGCCTTGAATGCCAGAAGAAGGAGGGGTGACCTGTGGAAAAAGATCCCTGGGAAGAGCTCTGAGACCTGGCAAGTGCGCAGGAGACATGGGCCAGTTCTCTGACATGGGTAAGTGCTCGGGCTGCCCCTTCCACCTGCCCTGGGCCTTCAGTGCTCCTCACCACTCACCGCTG
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Task1_train_21715
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This mutation is located in gene STRA6 (signaling receptor and transporter of retinol STRA6) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; STRA6-related disorder
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GGCCTGGCCTTTGATCTCCATCCATCTACCTCCTACCTCTCTCTCCCTCCACTGGTTCCCAACTTGGGCACCCCCAAACCCCAGCACTCACACAATCTTCCTGCTCTTTGCCACCTCTGGGATCCTGTGCCTGCCTTCTTCTGGGCCCTGCTTTGGGGGATAGATCTGTCTTCCCTCATGTGATTGAGGGCCTCAAGGGCAAGTGTTCCTTTTTCACTCCAGCACTCATTTTGCAGTTGGGGAAATTGAGGTCAGGAGAGGTAATGCACTTTGCCCAAGGTCACTCAGCTTGTAAGTGATGGAACAGAGATTCTAATCTAGTTTGCCTGACTCAGTCTGAGCTCTCTGTGAGTGATGCCAGGCTTATGGTCCAAGTGCTGGGTGGCAGTCCTAACAGAAGCTCTGAGCTCAGAAGACATTAGCTCCTTAGGCGAAGGACAGACCAAGGGACACTGGAGCCCAGGTTGCGGGATGGCTTTGGCCGTATCTGTAATCCTCCTGGGCCTCAGTATTCCTCATCTGCAAATTTAAAGAGTAACTGTTGCTCTGTTTGGCCCAAGAAGATTCAAAGTGGGAGCCTTTGAGCTTGGAAACTGCAACATGCAATTAAAAATATAAGACATGATGAGTGGAAGCAGAGTCCTTTGCCCTGGATGTGTCTCATTTTGTCTTTGAGCCTCAATGTCCTGCCCTGTGAGCTGGGATCAATGATGCTGACCTACAGGGTCACTGTGAGCAAGGGTCTGAGGTTGGTTGTGGGCTGACCTGGACCATGTCTGCACCTGCCTATGAACCAGATTGCAACCAGCTCAGAAAATCTCCTGGGAGAGGACATTTTCAGCTCACCCGGAACTTGTCACCTGTCCAGTTTGTTGCCCTCAGCAGCAGTTCCAGGGCAGCCTCTAGTACGGGAACTGAGGTGCTCACGGAGATGGTGGAGGTGGTCAGGGAAGGAAGTGGTCACTCCGTGCACCTCTGCCCACCCCCCACTCCCTGCCCCGCCATGACCAGCATGCCCAGGTCTGTAGGATAAGGATGATGTTAATGGTCAGGTACAGCTGCGGAGCAGCTACACCTCCACCTGCAACGCTGGCAGCCCACGCTCTGACCACATGTTACTCCTCAGAAGCCGGGGGCCCATCCGTCCCAGCCTGGGGTCCCCAAGTAAGCAGAAGGCGCATGCCTCCTGAGTCCTCAGCACCGGGCTTTGTCCCAAGGTGATGGAGAAGGCCCCCGCCTAGGCTTCAGGAGCCCTGCGTTCTCTTGGCTGCACTCTGCCCTGCTGGATGGCCTCAGGCAAATCCTTCCCCATGTGTCAAGTGGGGACACTTCTCAGTCCCCTCCACAGCGCTGTTGGGAGCGCCCAGGAGGCAGAGTAAGTAGGTGGCTGCAGGAGGCATCAGACCACAGAAGGGGAAGCCAAGATGGTTCCCTGGTTCAGGAGCTCATTGTCAGAGGAGGGAAGGAGAAAGGAGACGGCCCCAAAAGACAGGGAGTGGGGAAGAGAAAGCCTGTGCCCTGCCCAACGCCAGACCCCTGCCACGAGGATTCGCTCAGAAATCCTCACCATCTCCCTTCGCCGTCTCTTCCCTCCTTCCCCACCCTCAGCTCCCCCATCCCATGGCCTTCCTCATCTCCATGCCTGGATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTGCTTGTCCTCGGAGAGCACGATTCCAAAGCCGGCCAGCAGGTAGGAGACATCCGTGGTGACCCCTGCCCTCACCTTCTGGATAGTGGGTACCACGCCCACCAGCAGCAGCAGGGCCACCTGGAAGAGCCCCACAGTGAGGGCCCCATCCCAGGAAAGGGTTTTCTGTGCTAACAGGGGAGACGCTGGGGAAGAAACTGGCAGCACACAGGCCCCAGCCACATGCCCATTGCCCATCAGTGTTCTTATCTGCCCCTTAGAGCAGGGATCTCACGCCTCTAAATGAGGACATTACAGACAGGTGCAATCACAGCCTAATAGGCCAAAGGCATGCCTTCGAGCACCGTAACTTCATATAGTCAGCCCTGCGTATCTGTGGGTTCCACATCCACAACCAACCAATTCAATCAAGCGCAGATCAAAAATATTTGGGGAAAAACCCTCAATAAAAAATAACAATTCAATACAAATAATACAAATAAAAAATAATACAGTAGGACAACTTCTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACCGCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTACATTGGCTGGGATGGTCTCAATCTCTTGACATTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGACATAGGACAACTGTTTACATAGCACTTATGTTCGATATTATAAGTACTTTAGAGATAACGAGGTATACTGGAGAATGTGTGTAGGCTATATGCAAATACTACACCATCGTATATCAGAAATTTGAGCCTTTGGATTTTGGTATGGAGGGGTGTTCCTGGAACCAACCCACCTCAGATACTGAGGGATGACTGTGTCTGCACCTCTATCTATTTACCCATCATCTATCTATCTAAACTTTGGAATGTAAAATTTCTGGTTTTTCTATGTTGTGAAAGTAAATGAGCACAGGAATTAAAGCTGGACAGACTTGGATTCAAACTTAGGCTACGCTGAGATATTAGCTGTGCAGAAACTTGGCCAAGTCAAATTCACCTCTCCAAGCTTCCATTCTCCCCATCTGTAAAGTGGAGAATAATCATACCCATCTCCCAGGATTTTAATTGTTGTTGTTGGTTTTTTCGGGGTTTTTTTTTTTTCGGAGGTGGTGAGGCAGAGTTTATCAAACATGTTGTCTTGCTAAATCTTCCCAATTACTCAAAGAGGAAAATTATTCTATTTTCTCCTTTTTACAGATGAGCTAACAGGTTCAGAGAGGTTATATAACTTGCCCAAGGCCACACAGGAGGTAAATAGTGGAGCTAGGATTTAAATTCGTGTTTATGTGGCCTCCAAAATTAATGCTCCGAGTCACTTCATGAGTCCAAGAGTGAACACCCCGGCCCTTCTGGGTAGGCCAGAACTCCCAAGATGGCCTGCAGCACCTGGTCAGGGTTCTGGATGGAGCACCTGGAGAGCTGGGTTGGGCCGGAACTGCTCCAGGCTTGGGGGTTGAGGGCAGGGCTCCAGAGGCAGATGGCAGTACAGGGTGAGGGACATACCTGGTAAATGGCCGTCCCTGTCAGTGTAGCTGAAAGCACCAGCTTCAGCGGGAGATGGAATCCTGTAGTCCTCAAAGGAAGGAGTATGGTGAACAGCACCACTCAGGCCCGGGAGCCCTCCTCCCTCCCAAGGGGCCCAGGAAAAGGGCCAGCAGGACCCTAAATGACCAAGGCCAGGCCAGGGTCTTCCCGCTGTCCCAAGCTGGTAGTTGTCCCTCTTGATGACAAGGATTCTGGGGAGCAGGAGCCAGTCCTCCACTGCAGCCATTCTGTGCAAGGGAGGGTAACGTCCCCTGTCACGCTCGGCCTCAGCTCCCAACCCCATACCTGGCTGTGGAGTGTAGATGCAGTGTCTCAAGCAGACGCGGGCCCAGGACAGGAAGCCATGCTTGGAGGTGTGGTAGCTGCAGAAAGACCCAGGCAGGTGCGGGGTCCTCAGGGGAAGCCCATTC
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GGCCTGGCCTTTGATCTCCATCCATCTACCTCCTACCTCTCTCTCCCTCCACTGGTTCCCAACTTGGGCACCCCCAAACCCCAGCACTCACACAATCTTCCTGCTCTTTGCCACCTCTGGGATCCTGTGCCTGCCTTCTTCTGGGCCCTGCTTTGGGGGATAGATCTGTCTTCCCTCATGTGATTGAGGGCCTCAAGGGCAAGTGTTCCTTTTTCACTCCAGCACTCATTTTGCAGTTGGGGAAATTGAGGTCAGGAGAGGTAATGCACTTTGCCCAAGGTCACTCAGCTTGTAAGTGATGGAACAGAGATTCTAATCTAGTTTGCCTGACTCAGTCTGAGCTCTCTGTGAGTGATGCCAGGCTTATGGTCCAAGTGCTGGGTGGCAGTCCTAACAGAAGCTCTGAGCTCAGAAGACATTAGCTCCTTAGGCGAAGGACAGACCAAGGGACACTGGAGCCCAGGTTGCGGGATGGCTTTGGCCGTATCTGTAATCCTCCTGGGCCTCAGTATTCCTCATCTGCAAATTTAAAGAGTAACTGTTGCTCTGTTTGGCCCAAGAAGATTCAAAGTGGGAGCCTTTGAGCTTGGAAACTGCAACATGCAATTAAAAATATAAGACATGATGAGTGGAAGCAGAGTCCTTTGCCCTGGATGTGTCTCATTTTGTCTTTGAGCCTCAATGTCCTGCCCTGTGAGCTGGGATCAATGATGCTGACCTACAGGGTCACTGTGAGCAAGGGTCTGAGGTTGGTTGTGGGCTGACCTGGACCATGTCTGCACCTGCCTATGAACCAGATTGCAACCAGCTCAGAAAATCTCCTGGGAGAGGACATTTTCAGCTCACCCGGAACTTGTCACCTGTCCAGTTTGTTGCCCTCAGCAGCAGTTCCAGGGCAGCCTCTAGTACGGGAACTGAGGTGCTCACGGAGATGGTGGAGGTGGTCAGGGAAGGAAGTGGTCACTCCGTGCACCTCTGCCCACCCCCCACTCCCTGCCCCGCCATGACCAGCATGCCCAGGTCTGTAGGATAAGGATGATGTTAATGGTCAGGTACAGCTGCGGAGCAGCTACACCTCCACCTGCAACGCTGGCAGCCCACGCTCTGACCACATGTTACTCCTCAGAAGCCGGGGGCCCATCCGTCCCAGCCTGGGGTCCCCAAGTAAGCAGAAGGCGCATGCCTCCTGAGTCCTCAGCACCGGGCTTTGTCCCAAGGTGATGGAGAAGGCCCCCGCCTAGGCTTCAGGAGCCCTGCGTTCTCTTGGCTGCACTCTGCCCTGCTGGATGGCCTCAGGCAAATCCTTCCCCATGTGTCAAGTGGGGACACTTCTCAGTCCCCTCCACAGCGCTGTTGGGAGCGCCCAGGAGGCAGAGTAAGTAGGTGGCTGCAGGAGGCATCAGACCACAGAAGGGGAAGCCAAGATGGTTCCCTGGTTCAGGAGCTCATTGTCAGAGGAGGGAAGGAGAAAGGAGACGGCCCCAAAAGACAGGGAGTGGGGAAGAGAAAGCCTGTGCCCTGCCCAACGCCAGACCCCTGCCACGAGGATTCGCTCAGAAATCCTCACCATCTCCCTTCGCCGTCTCTTCCCTCCTTCCCCACCCTCAGCTCCCCCATCCCATGGCCTTCCTCATCTCCATGCCTGGATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTGCTTGTCCTCGGAGAGCACGATTCCAAAGCCGGCCAGCAGGTAGGAGACATCCGTGGTGACCCCTGCCCTCACCTTCTGGATAGGGGGTACCACGCCCACCAGCAGCAGCAGGGCCACCTGGAAGAGCCCCACAGTGAGGGCCCCATCCCAGGAAAGGGTTTTCTGTGCTAACAGGGGAGACGCTGGGGAAGAAACTGGCAGCACACAGGCCCCAGCCACATGCCCATTGCCCATCAGTGTTCTTATCTGCCCCTTAGAGCAGGGATCTCACGCCTCTAAATGAGGACATTACAGACAGGTGCAATCACAGCCTAATAGGCCAAAGGCATGCCTTCGAGCACCGTAACTTCATATAGTCAGCCCTGCGTATCTGTGGGTTCCACATCCACAACCAACCAATTCAATCAAGCGCAGATCAAAAATATTTGGGGAAAAACCCTCAATAAAAAATAACAATTCAATACAAATAATACAAATAAAAAATAATACAGTAGGACAACTTCTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACCGCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTACATTGGCTGGGATGGTCTCAATCTCTTGACATTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGACATAGGACAACTGTTTACATAGCACTTATGTTCGATATTATAAGTACTTTAGAGATAACGAGGTATACTGGAGAATGTGTGTAGGCTATATGCAAATACTACACCATCGTATATCAGAAATTTGAGCCTTTGGATTTTGGTATGGAGGGGTGTTCCTGGAACCAACCCACCTCAGATACTGAGGGATGACTGTGTCTGCACCTCTATCTATTTACCCATCATCTATCTATCTAAACTTTGGAATGTAAAATTTCTGGTTTTTCTATGTTGTGAAAGTAAATGAGCACAGGAATTAAAGCTGGACAGACTTGGATTCAAACTTAGGCTACGCTGAGATATTAGCTGTGCAGAAACTTGGCCAAGTCAAATTCACCTCTCCAAGCTTCCATTCTCCCCATCTGTAAAGTGGAGAATAATCATACCCATCTCCCAGGATTTTAATTGTTGTTGTTGGTTTTTTCGGGGTTTTTTTTTTTTCGGAGGTGGTGAGGCAGAGTTTATCAAACATGTTGTCTTGCTAAATCTTCCCAATTACTCAAAGAGGAAAATTATTCTATTTTCTCCTTTTTACAGATGAGCTAACAGGTTCAGAGAGGTTATATAACTTGCCCAAGGCCACACAGGAGGTAAATAGTGGAGCTAGGATTTAAATTCGTGTTTATGTGGCCTCCAAAATTAATGCTCCGAGTCACTTCATGAGTCCAAGAGTGAACACCCCGGCCCTTCTGGGTAGGCCAGAACTCCCAAGATGGCCTGCAGCACCTGGTCAGGGTTCTGGATGGAGCACCTGGAGAGCTGGGTTGGGCCGGAACTGCTCCAGGCTTGGGGGTTGAGGGCAGGGCTCCAGAGGCAGATGGCAGTACAGGGTGAGGGACATACCTGGTAAATGGCCGTCCCTGTCAGTGTAGCTGAAAGCACCAGCTTCAGCGGGAGATGGAATCCTGTAGTCCTCAAAGGAAGGAGTATGGTGAACAGCACCACTCAGGCCCGGGAGCCCTCCTCCCTCCCAAGGGGCCCAGGAAAAGGGCCAGCAGGACCCTAAATGACCAAGGCCAGGCCAGGGTCTTCCCGCTGTCCCAAGCTGGTAGTTGTCCCTCTTGATGACAAGGATTCTGGGGAGCAGGAGCCAGTCCTCCACTGCAGCCATTCTGTGCAAGGGAGGGTAACGTCCCCTGTCACGCTCGGCCTCAGCTCCCAACCCCATACCTGGCTGTGGAGTGTAGATGCAGTGTCTCAAGCAGACGCGGGCCCAGGACAGGAAGCCATGCTTGGAGGTGTGGTAGCTGCAGAAAGACCCAGGCAGGTGCGGGGTCCTCAGGGGAAGCCCATTC
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Task1_train_21716
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Here is a genetic alteration in STRA6 (signaling receptor and transporter of retinol STRA6) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Matthew-Wood syndrome
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GGCCTGGCCTTTGATCTCCATCCATCTACCTCCTACCTCTCTCTCCCTCCACTGGTTCCCAACTTGGGCACCCCCAAACCCCAGCACTCACACAATCTTCCTGCTCTTTGCCACCTCTGGGATCCTGTGCCTGCCTTCTTCTGGGCCCTGCTTTGGGGGATAGATCTGTCTTCCCTCATGTGATTGAGGGCCTCAAGGGCAAGTGTTCCTTTTTCACTCCAGCACTCATTTTGCAGTTGGGGAAATTGAGGTCAGGAGAGGTAATGCACTTTGCCCAAGGTCACTCAGCTTGTAAGTGATGGAACAGAGATTCTAATCTAGTTTGCCTGACTCAGTCTGAGCTCTCTGTGAGTGATGCCAGGCTTATGGTCCAAGTGCTGGGTGGCAGTCCTAACAGAAGCTCTGAGCTCAGAAGACATTAGCTCCTTAGGCGAAGGACAGACCAAGGGACACTGGAGCCCAGGTTGCGGGATGGCTTTGGCCGTATCTGTAATCCTCCTGGGCCTCAGTATTCCTCATCTGCAAATTTAAAGAGTAACTGTTGCTCTGTTTGGCCCAAGAAGATTCAAAGTGGGAGCCTTTGAGCTTGGAAACTGCAACATGCAATTAAAAATATAAGACATGATGAGTGGAAGCAGAGTCCTTTGCCCTGGATGTGTCTCATTTTGTCTTTGAGCCTCAATGTCCTGCCCTGTGAGCTGGGATCAATGATGCTGACCTACAGGGTCACTGTGAGCAAGGGTCTGAGGTTGGTTGTGGGCTGACCTGGACCATGTCTGCACCTGCCTATGAACCAGATTGCAACCAGCTCAGAAAATCTCCTGGGAGAGGACATTTTCAGCTCACCCGGAACTTGTCACCTGTCCAGTTTGTTGCCCTCAGCAGCAGTTCCAGGGCAGCCTCTAGTACGGGAACTGAGGTGCTCACGGAGATGGTGGAGGTGGTCAGGGAAGGAAGTGGTCACTCCGTGCACCTCTGCCCACCCCCCACTCCCTGCCCCGCCATGACCAGCATGCCCAGGTCTGTAGGATAAGGATGATGTTAATGGTCAGGTACAGCTGCGGAGCAGCTACACCTCCACCTGCAACGCTGGCAGCCCACGCTCTGACCACATGTTACTCCTCAGAAGCCGGGGGCCCATCCGTCCCAGCCTGGGGTCCCCAAGTAAGCAGAAGGCGCATGCCTCCTGAGTCCTCAGCACCGGGCTTTGTCCCAAGGTGATGGAGAAGGCCCCCGCCTAGGCTTCAGGAGCCCTGCGTTCTCTTGGCTGCACTCTGCCCTGCTGGATGGCCTCAGGCAAATCCTTCCCCATGTGTCAAGTGGGGACACTTCTCAGTCCCCTCCACAGCGCTGTTGGGAGCGCCCAGGAGGCAGAGTAAGTAGGTGGCTGCAGGAGGCATCAGACCACAGAAGGGGAAGCCAAGATGGTTCCCTGGTTCAGGAGCTCATTGTCAGAGGAGGGAAGGAGAAAGGAGACGGCCCCAAAAGACAGGGAGTGGGGAAGAGAAAGCCTGTGCCCTGCCCAACGCCAGACCCCTGCCACGAGGATTCGCTCAGAAATCCTCACCATCTCCCTTCGCCGTCTCTTCCCTCCTTCCCCACCCTCAGCTCCCCCATCCCATGGCCTTCCTCATCTCCATGCCTGGATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTGCTTGTCCTCGGAGAGCACGATTCCAAAGCCGGCCAGCAGGTAGGAGACATCCGTGGTGACCCCTGCCCTCACCTTCTGGATAGTGGGTACCACGCCCACCAGCAGCAGCAGGGCCACCTGGAAGAGCCCCACAGTGAGGGCCCCATCCCAGGAAAGGGTTTTCTGTGCTAACAGGGGAGACGCTGGGGAAGAAACTGGCAGCACACAGGCCCCAGCCACATGCCCATTGCCCATCAGTGTTCTTATCTGCCCCTTAGAGCAGGGATCTCACGCCTCTAAATGAGGACATTACAGACAGGTGCAATCACAGCCTAATAGGCCAAAGGCATGCCTTCGAGCACCGTAACTTCATATAGTCAGCCCTGCGTATCTGTGGGTTCCACATCCACAACCAACCAATTCAATCAAGCGCAGATCAAAAATATTTGGGGAAAAACCCTCAATAAAAAATAACAATTCAATACAAATAATACAAATAAAAAATAATACAGTAGGACAACTTCTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACCGCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTACATTGGCTGGGATGGTCTCAATCTCTTGACATTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGACATAGGACAACTGTTTACATAGCACTTATGTTCGATATTATAAGTACTTTAGAGATAACGAGGTATACTGGAGAATGTGTGTAGGCTATATGCAAATACTACACCATCGTATATCAGAAATTTGAGCCTTTGGATTTTGGTATGGAGGGGTGTTCCTGGAACCAACCCACCTCAGATACTGAGGGATGACTGTGTCTGCACCTCTATCTATTTACCCATCATCTATCTATCTAAACTTTGGAATGTAAAATTTCTGGTTTTTCTATGTTGTGAAAGTAAATGAGCACAGGAATTAAAGCTGGACAGACTTGGATTCAAACTTAGGCTACGCTGAGATATTAGCTGTGCAGAAACTTGGCCAAGTCAAATTCACCTCTCCAAGCTTCCATTCTCCCCATCTGTAAAGTGGAGAATAATCATACCCATCTCCCAGGATTTTAATTGTTGTTGTTGGTTTTTTCGGGGTTTTTTTTTTTTCGGAGGTGGTGAGGCAGAGTTTATCAAACATGTTGTCTTGCTAAATCTTCCCAATTACTCAAAGAGGAAAATTATTCTATTTTCTCCTTTTTACAGATGAGCTAACAGGTTCAGAGAGGTTATATAACTTGCCCAAGGCCACACAGGAGGTAAATAGTGGAGCTAGGATTTAAATTCGTGTTTATGTGGCCTCCAAAATTAATGCTCCGAGTCACTTCATGAGTCCAAGAGTGAACACCCCGGCCCTTCTGGGTAGGCCAGAACTCCCAAGATGGCCTGCAGCACCTGGTCAGGGTTCTGGATGGAGCACCTGGAGAGCTGGGTTGGGCCGGAACTGCTCCAGGCTTGGGGGTTGAGGGCAGGGCTCCAGAGGCAGATGGCAGTACAGGGTGAGGGACATACCTGGTAAATGGCCGTCCCTGTCAGTGTAGCTGAAAGCACCAGCTTCAGCGGGAGATGGAATCCTGTAGTCCTCAAAGGAAGGAGTATGGTGAACAGCACCACTCAGGCCCGGGAGCCCTCCTCCCTCCCAAGGGGCCCAGGAAAAGGGCCAGCAGGACCCTAAATGACCAAGGCCAGGCCAGGGTCTTCCCGCTGTCCCAAGCTGGTAGTTGTCCCTCTTGATGACAAGGATTCTGGGGAGCAGGAGCCAGTCCTCCACTGCAGCCATTCTGTGCAAGGGAGGGTAACGTCCCCTGTCACGCTCGGCCTCAGCTCCCAACCCCATACCTGGCTGTGGAGTGTAGATGCAGTGTCTCAAGCAGACGCGGGCCCAGGACAGGAAGCCATGCTTGGAGGTGTGGTAGCTGCAGAAAGACCCAGGCAGGTGCGGGGTCCTCAGGGGAAGCCCATTC
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GGCCTGGCCTTTGATCTCCATCCATCTACCTCCTACCTCTCTCTCCCTCCACTGGTTCCCAACTTGGGCACCCCCAAACCCCAGCACTCACACAATCTTCCTGCTCTTTGCCACCTCTGGGATCCTGTGCCTGCCTTCTTCTGGGCCCTGCTTTGGGGGATAGATCTGTCTTCCCTCATGTGATTGAGGGCCTCAAGGGCAAGTGTTCCTTTTTCACTCCAGCACTCATTTTGCAGTTGGGGAAATTGAGGTCAGGAGAGGTAATGCACTTTGCCCAAGGTCACTCAGCTTGTAAGTGATGGAACAGAGATTCTAATCTAGTTTGCCTGACTCAGTCTGAGCTCTCTGTGAGTGATGCCAGGCTTATGGTCCAAGTGCTGGGTGGCAGTCCTAACAGAAGCTCTGAGCTCAGAAGACATTAGCTCCTTAGGCGAAGGACAGACCAAGGGACACTGGAGCCCAGGTTGCGGGATGGCTTTGGCCGTATCTGTAATCCTCCTGGGCCTCAGTATTCCTCATCTGCAAATTTAAAGAGTAACTGTTGCTCTGTTTGGCCCAAGAAGATTCAAAGTGGGAGCCTTTGAGCTTGGAAACTGCAACATGCAATTAAAAATATAAGACATGATGAGTGGAAGCAGAGTCCTTTGCCCTGGATGTGTCTCATTTTGTCTTTGAGCCTCAATGTCCTGCCCTGTGAGCTGGGATCAATGATGCTGACCTACAGGGTCACTGTGAGCAAGGGTCTGAGGTTGGTTGTGGGCTGACCTGGACCATGTCTGCACCTGCCTATGAACCAGATTGCAACCAGCTCAGAAAATCTCCTGGGAGAGGACATTTTCAGCTCACCCGGAACTTGTCACCTGTCCAGTTTGTTGCCCTCAGCAGCAGTTCCAGGGCAGCCTCTAGTACGGGAACTGAGGTGCTCACGGAGATGGTGGAGGTGGTCAGGGAAGGAAGTGGTCACTCCGTGCACCTCTGCCCACCCCCCACTCCCTGCCCCGCCATGACCAGCATGCCCAGGTCTGTAGGATAAGGATGATGTTAATGGTCAGGTACAGCTGCGGAGCAGCTACACCTCCACCTGCAACGCTGGCAGCCCACGCTCTGACCACATGTTACTCCTCAGAAGCCGGGGGCCCATCCGTCCCAGCCTGGGGTCCCCAAGTAAGCAGAAGGCGCATGCCTCCTGAGTCCTCAGCACCGGGCTTTGTCCCAAGGTGATGGAGAAGGCCCCCGCCTAGGCTTCAGGAGCCCTGCGTTCTCTTGGCTGCACTCTGCCCTGCTGGATGGCCTCAGGCAAATCCTTCCCCATGTGTCAAGTGGGGACACTTCTCAGTCCCCTCCACAGCGCTGTTGGGAGCGCCCAGGAGGCAGAGTAAGTAGGTGGCTGCAGGAGGCATCAGACCACAGAAGGGGAAGCCAAGATGGTTCCCTGGTTCAGGAGCTCATTGTCAGAGGAGGGAAGGAGAAAGGAGACGGCCCCAAAAGACAGGGAGTGGGGAAGAGAAAGCCTGTGCCCTGCCCAACGCCAGACCCCTGCCACGAGGATTCGCTCAGAAATCCTCACCATCTCCCTTCGCCGTCTCTTCCCTCCTTCCCCACCCTCAGCTCCCCCATCCCATGGCCTTCCTCATCTCCATGCCTGGATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTGCTTGTCCTCGGAGAGCACGATTCCAAAGCCGGCCAGCAGGTAGGAGACATCCGTGGTGACCCCTGCCCTCACCTTCTGGATAGGGGGTACCACGCCCACCAGCAGCAGCAGGGCCACCTGGAAGAGCCCCACAGTGAGGGCCCCATCCCAGGAAAGGGTTTTCTGTGCTAACAGGGGAGACGCTGGGGAAGAAACTGGCAGCACACAGGCCCCAGCCACATGCCCATTGCCCATCAGTGTTCTTATCTGCCCCTTAGAGCAGGGATCTCACGCCTCTAAATGAGGACATTACAGACAGGTGCAATCACAGCCTAATAGGCCAAAGGCATGCCTTCGAGCACCGTAACTTCATATAGTCAGCCCTGCGTATCTGTGGGTTCCACATCCACAACCAACCAATTCAATCAAGCGCAGATCAAAAATATTTGGGGAAAAACCCTCAATAAAAAATAACAATTCAATACAAATAATACAAATAAAAAATAATACAGTAGGACAACTTCTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACCGCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTACATTGGCTGGGATGGTCTCAATCTCTTGACATTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGACATAGGACAACTGTTTACATAGCACTTATGTTCGATATTATAAGTACTTTAGAGATAACGAGGTATACTGGAGAATGTGTGTAGGCTATATGCAAATACTACACCATCGTATATCAGAAATTTGAGCCTTTGGATTTTGGTATGGAGGGGTGTTCCTGGAACCAACCCACCTCAGATACTGAGGGATGACTGTGTCTGCACCTCTATCTATTTACCCATCATCTATCTATCTAAACTTTGGAATGTAAAATTTCTGGTTTTTCTATGTTGTGAAAGTAAATGAGCACAGGAATTAAAGCTGGACAGACTTGGATTCAAACTTAGGCTACGCTGAGATATTAGCTGTGCAGAAACTTGGCCAAGTCAAATTCACCTCTCCAAGCTTCCATTCTCCCCATCTGTAAAGTGGAGAATAATCATACCCATCTCCCAGGATTTTAATTGTTGTTGTTGGTTTTTTCGGGGTTTTTTTTTTTTCGGAGGTGGTGAGGCAGAGTTTATCAAACATGTTGTCTTGCTAAATCTTCCCAATTACTCAAAGAGGAAAATTATTCTATTTTCTCCTTTTTACAGATGAGCTAACAGGTTCAGAGAGGTTATATAACTTGCCCAAGGCCACACAGGAGGTAAATAGTGGAGCTAGGATTTAAATTCGTGTTTATGTGGCCTCCAAAATTAATGCTCCGAGTCACTTCATGAGTCCAAGAGTGAACACCCCGGCCCTTCTGGGTAGGCCAGAACTCCCAAGATGGCCTGCAGCACCTGGTCAGGGTTCTGGATGGAGCACCTGGAGAGCTGGGTTGGGCCGGAACTGCTCCAGGCTTGGGGGTTGAGGGCAGGGCTCCAGAGGCAGATGGCAGTACAGGGTGAGGGACATACCTGGTAAATGGCCGTCCCTGTCAGTGTAGCTGAAAGCACCAGCTTCAGCGGGAGATGGAATCCTGTAGTCCTCAAAGGAAGGAGTATGGTGAACAGCACCACTCAGGCCCGGGAGCCCTCCTCCCTCCCAAGGGGCCCAGGAAAAGGGCCAGCAGGACCCTAAATGACCAAGGCCAGGCCAGGGTCTTCCCGCTGTCCCAAGCTGGTAGTTGTCCCTCTTGATGACAAGGATTCTGGGGAGCAGGAGCCAGTCCTCCACTGCAGCCATTCTGTGCAAGGGAGGGTAACGTCCCCTGTCACGCTCGGCCTCAGCTCCCAACCCCATACCTGGCTGTGGAGTGTAGATGCAGTGTCTCAAGCAGACGCGGGCCCAGGACAGGAAGCCATGCTTGGAGGTGTGGTAGCTGCAGAAAGACCCAGGCAGGTGCGGGGTCCTCAGGGGAAGCCCATTC
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Task1_train_21717
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Chromosome 15 houses a mutation in gene STRA6 (signaling receptor and transporter of retinol STRA6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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GATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTGCTTGTCCTCGGAGAGCACGATTCCAAAGCCGGCCAGCAGGTAGGAGACATCCGTGGTGACCCCTGCCCTCACCTTCTGGATAGTGGGTACCACGCCCACCAGCAGCAGCAGGGCCACCTGGAAGAGCCCCACAGTGAGGGCCCCATCCCAGGAAAGGGTTTTCTGTGCTAACAGGGGAGACGCTGGGGAAGAAACTGGCAGCACACAGGCCCCAGCCACATGCCCATTGCCCATCAGTGTTCTTATCTGCCCCTTAGAGCAGGGATCTCACGCCTCTAAATGAGGACATTACAGACAGGTGCAATCACAGCCTAATAGGCCAAAGGCATGCCTTCGAGCACCGTAACTTCATATAGTCAGCCCTGCGTATCTGTGGGTTCCACATCCACAACCAACCAATTCAATCAAGCGCAGATCAAAAATATTTGGGGAAAAACCCTCAATAAAAAATAACAATTCAATACAAATAATACAAATAAAAAATAATACAGTAGGACAACTTCTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACCGCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTACATTGGCTGGGATGGTCTCAATCTCTTGACATTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGACATAGGACAACTGTTTACATAGCACTTATGTTCGATATTATAAGTACTTTAGAGATAACGAGGTATACTGGAGAATGTGTGTAGGCTATATGCAAATACTACACCATCGTATATCAGAAATTTGAGCCTTTGGATTTTGGTATGGAGGGGTGTTCCTGGAACCAACCCACCTCAGATACTGAGGGATGACTGTGTCTGCACCTCTATCTATTTACCCATCATCTATCTATCTAAACTTTGGAATGTAAAATTTCTGGTTTTTCTATGTTGTGAAAGTAAATGAGCACAGGAATTAAAGCTGGACAGACTTGGATTCAAACTTAGGCTACGCTGAGATATTAGCTGTGCAGAAACTTGGCCAAGTCAAATTCACCTCTCCAAGCTTCCATTCTCCCCATCTGTAAAGTGGAGAATAATCATACCCATCTCCCAGGATTTTAATTGTTGTTGTTGGTTTTTTCGGGGTTTTTTTTTTTTCGGAGGTGGTGAGGCAGAGTTTATCAAACATGTTGTCTTGCTAAATCTTCCCAATTACTCAAAGAGGAAAATTATTCTATTTTCTCCTTTTTACAGATGAGCTAACAGGTTCAGAGAGGTTATATAACTTGCCCAAGGCCACACAGGAGGTAAATAGTGGAGCTAGGATTTAAATTCGTGTTTATGTGGCCTCCAAAATTAATGCTCCGAGTCACTTCATGAGTCCAAGAGTGAACACCCCGGCCCTTCTGGGTAGGCCAGAACTCCCAAGATGGCCTGCAGCACCTGGTCAGGGTTCTGGATGGAGCACCTGGAGAGCTGGGTTGGGCCGGAACTGCTCCAGGCTTGGGGGTTGAGGGCAGGGCTCCAGAGGCAGATGGCAGTACAGGGTGAGGGACATACCTGGTAAATGGCCGTCCCTGTCAGTGTAGCTGAAAGCACCAGCTTCAGCGGGAGATGGAATCCTGTAGTCCTCAAAGGAAGGAGTATGGTGAACAGCACCACTCAGGCCCGGGAGCCCTCCTCCCTCCCAAGGGGCCCAGGAAAAGGGCCAGCAGGACCCTAAATGACCAAGGCCAGGCCAGGGTCTTCCCGCTGTCCCAAGCTGGTAGTTGTCCCTCTTGATGACAAGGATTCTGGGGAGCAGGAGCCAGTCCTCCACTGCAGCCATTCTGTGCAAGGGAGGGTAACGTCCCCTGTCACGCTCGGCCTCAGCTCCCAACCCCATACCTGGCTGTGGAGTGTAGATGCAGTGTCTCAAGCAGACGCGGGCCCAGGACAGGAAGCCATGCTTGGAGGTGTGGTAGCTGCAGAAAGACCCAGGCAGGTGCGGGGTCCTCAGGGGAAGCCCATTCCCTGAGGGCCAGCCCCAGAGGCTGGTCATTCTTCCCCTCTGCCCCTGCCATGCTGCCCAGTGCCAGCTTCCCAAGCACGGCTGCTAACCAGCCCAATCCATTGGCCCACAAAGGGTGTGTCAGAGACCCCACCTGCTTCCCAGCTTCTTCCTGCAAAGGAGGTTCCTCAGATATTCCTCAGAGTAGCTGCTCTGCAGCCCCTGTGGAGACAGACAATTGAACAAGCAGATGAGATCTGCCTCGACCCATTCGTGGGTCCCTGGCTCAGGGAACTAGAGTGTTCACCAAGCAGGTGCTCCATAAAAACCTGTTGGCCATGGCGGTGGTGGTGAGTGTGGATGGGGCTGACCTGTGGGGATGAGGTCCGTGCCCTCCAAAGCTTCCCTTTTCTCTCTCACAAATACAAGGCCAGTCTCCTATCAAAGAACCATCAATGCCAGGAAGTTCTTCCTAAGATCTGTCTCCAACTCTCGCCTGCTTTACTCAGTCACATCTCTTCACCGTTTCTTCCCACCCCTAGCCCTCTGGCCTCTGCTAGCTGAAACTGGGGCAAAGGGAAGCTTGTGTCCCACGGGCACATCCTAGACCAGGACACAGAAGAGGGTCATTCCAGGTCAGACACCCTCAGGCTTCTCCTGCTGCCACTGCGCAAGGGAGATCACAAGGGTGACCAGATTTGTCTAAGCCACATTCCAGGCCTTAAGCTGCCTGTGAAGTAGCAGAGGCCCATGGGAAGATGGGGTGAGCCCCTGCCTGGAATCACTGGGAGAACACAGGCTGTTGTCACTTGTTGCCATGACAACCCTGGGATCCCGGGCAGGAGTGGGTCAGCTCAAAGCTTGATGGGGGTCCTTTGAGACTTAAACCTCTTTGACCAAAGTCCAAAGAGGATTGTACACCTCTCAAGCCTGGGAGGAAAGGCTGGCAATGGAGAGAGAGATGGGGTGGTGGAAACCCTGGAAGAGAAGGTAAAGGGGCATGCCTCAGGCACTGTGTCGTCCCGGGGGGCCGCTCCCTTTTCAGAGCCAGCTGTAAACAGGAGGGGACACAGGCTTCCTCGAGGGGTGTTGGCCTCAATAGGCAGGAGCTACAAGCGCTCAGAACTCCCTGCCTGCCACGTGGGAGCCGAGTCTGGAGTCCGTGGGCCTTCTCGGACCAGAGTAGCCCAAAAGGGACCCGGGGTTCTCCATCCTGCCTAGGGATCTCACTCACTCTCTGGATTCAGTCTGACCTTGCCGAGTTAACACCCGGTCCCAGCCCCTCTGCTGAGCTCCAGACTTTGAGCAGTACACCCTCAGGACCAAGCATCATCCCAGGAGCACCTGCTCCTCCCTCCACCTTCCCTGGGCCAGCAGCTGGCACCACCACCTACCTGCTGGCTGGCCAGGTGCCTCCCATCAAGCCTTTCCTTCCCCTGCCCTGTCTGAAGAGAAGCCACGCCCTTTGGCCTCTATGTCTTAAGACTTTCTCCTGAGTCTGTTCTTCTTTCCCCTTTGAGGGTCTCTGCAGAGCTTTCTTCCTCCTCCTCTCTCACCAGAAAGAAGTAGTGGACCCCGCCCCCTGCACCACAGTCCCAACACCCGGTGCAGGTTTCACATTGCACTGCAGGTGTTTTGTGCCGCATCTGTCTCCCCCACCACACTGG
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GATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTGCTTGTCCTCGGAGAGCACGATTCCAAAGCCGGCCAGCAGGTAGGAGACATCCGTGGTGACCCCTGCCCTCACCTTCTGGATAGTGGGTACCACGCCCACCAGCAGCAGCAGGGCCACCTGGAAGAGCCCCACAGTGAGGGCCCCATCCCAGGAAAGGGTTTTCTGTGCTAACAGGGGAGACGCTGGGGAAGAAACTGGCAGCACACAGGCCCCAGCCACATGCCCATTGCCCATCAGTGTTCTTATCTGCCCCTTAGAGCAGGGATCTCACGCCTCTAAATGAGGACATTACAGACAGGTGCAATCACAGCCTAATAGGCCAAAGGCATGCCTTCGAGCACCGTAACTTCATATAGTCAGCCCTGCGTATCTGTGGGTTCCACATCCACAACCAACCAATTCAATCAAGCGCAGATCAAAAATATTTGGGGAAAAACCCTCAATAAAAAATAACAATTCAATACAAATAATACAAATAAAAAATAATACAGTAGGACAACTTCTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACCGCCAGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTACATTGGCTGGGATGGTCTCAATCTCTTGACATTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGACATAGGACAACTGTTTACATAGCACTTATGTTCGATATTATAAGTACTTTAGAGATAACGAGGTATACTGGAGAATGTGTGTAGGCTATATGCAAATACTACACCATCGTATATCAGAAATTTGAGCCTTTGGATTTTGGTATGGAGGGGTGTTCCTGGAACCAACCCACCTCAGATACTGAGGGATGACTGTGTCTGCACCTCTATCTATTTACCCATCATCTATCTATCTAAACTTTGGAATGTAAAATTTCTGGTTTTTCTATGTTGTGAAAGTAAATGAGCACAGGAATTAAAGCTGGACAGACTTGGATTCAAACTTAGGCTACGCTGAGATATTAGCTGTGCAGAAACTTGGCCAAGTCAAATTCACCTCTCCAAGCTTCCATTCTCCCCATCTGTAAAGTGGAGAATAATCATACCCATCTCCCAGGATTTTAATTGTTGTTGTTGGTTTTTTCGGGGTTTTTTTTTTTTCGGAGGTGGTGAGGCAGAGTTTATCAAACATGTTGTCTTGCTAAATCTTCCCAATTACTCAAAGAGGAAAATTATTCTATTTTCTCCTTTTTACAGATGAGCTAACAGGTTCAGAGAGGTTATATAACTTGCCCAAGGCCACACAGGAGGTAAATAGTGGAGCTAGGATTTAAATTCGTGTTTATGTGGCCTCCAAAATTAATGCTCCGAGTCACTTCATGAGTCCAAGAGTGAACACCCCGGCCCTTCTGGGTAGGCCAGAACTCCCAAGATGGCCTGCAGCACCTGGTCAGGGTTCTGGATGGAGCACCTGGAGAGCTGGGTTGGGCCGGAACTGCTCCAGGCTTGGGGGTTGAGGGCAGGGCTCCAGAGGCAGATGGCAGTACAGGGTGAGGGACATACCTGGTAAATGGCCGTCCCTGTCAGTGTAGCTGAAAGCACCAGCTTCAGCAGGAGATGGAATCCTGTAGTCCTCAAAGGAAGGAGTATGGTGAACAGCACCACTCAGGCCCGGGAGCCCTCCTCCCTCCCAAGGGGCCCAGGAAAAGGGCCAGCAGGACCCTAAATGACCAAGGCCAGGCCAGGGTCTTCCCGCTGTCCCAAGCTGGTAGTTGTCCCTCTTGATGACAAGGATTCTGGGGAGCAGGAGCCAGTCCTCCACTGCAGCCATTCTGTGCAAGGGAGGGTAACGTCCCCTGTCACGCTCGGCCTCAGCTCCCAACCCCATACCTGGCTGTGGAGTGTAGATGCAGTGTCTCAAGCAGACGCGGGCCCAGGACAGGAAGCCATGCTTGGAGGTGTGGTAGCTGCAGAAAGACCCAGGCAGGTGCGGGGTCCTCAGGGGAAGCCCATTCCCTGAGGGCCAGCCCCAGAGGCTGGTCATTCTTCCCCTCTGCCCCTGCCATGCTGCCCAGTGCCAGCTTCCCAAGCACGGCTGCTAACCAGCCCAATCCATTGGCCCACAAAGGGTGTGTCAGAGACCCCACCTGCTTCCCAGCTTCTTCCTGCAAAGGAGGTTCCTCAGATATTCCTCAGAGTAGCTGCTCTGCAGCCCCTGTGGAGACAGACAATTGAACAAGCAGATGAGATCTGCCTCGACCCATTCGTGGGTCCCTGGCTCAGGGAACTAGAGTGTTCACCAAGCAGGTGCTCCATAAAAACCTGTTGGCCATGGCGGTGGTGGTGAGTGTGGATGGGGCTGACCTGTGGGGATGAGGTCCGTGCCCTCCAAAGCTTCCCTTTTCTCTCTCACAAATACAAGGCCAGTCTCCTATCAAAGAACCATCAATGCCAGGAAGTTCTTCCTAAGATCTGTCTCCAACTCTCGCCTGCTTTACTCAGTCACATCTCTTCACCGTTTCTTCCCACCCCTAGCCCTCTGGCCTCTGCTAGCTGAAACTGGGGCAAAGGGAAGCTTGTGTCCCACGGGCACATCCTAGACCAGGACACAGAAGAGGGTCATTCCAGGTCAGACACCCTCAGGCTTCTCCTGCTGCCACTGCGCAAGGGAGATCACAAGGGTGACCAGATTTGTCTAAGCCACATTCCAGGCCTTAAGCTGCCTGTGAAGTAGCAGAGGCCCATGGGAAGATGGGGTGAGCCCCTGCCTGGAATCACTGGGAGAACACAGGCTGTTGTCACTTGTTGCCATGACAACCCTGGGATCCCGGGCAGGAGTGGGTCAGCTCAAAGCTTGATGGGGGTCCTTTGAGACTTAAACCTCTTTGACCAAAGTCCAAAGAGGATTGTACACCTCTCAAGCCTGGGAGGAAAGGCTGGCAATGGAGAGAGAGATGGGGTGGTGGAAACCCTGGAAGAGAAGGTAAAGGGGCATGCCTCAGGCACTGTGTCGTCCCGGGGGGCCGCTCCCTTTTCAGAGCCAGCTGTAAACAGGAGGGGACACAGGCTTCCTCGAGGGGTGTTGGCCTCAATAGGCAGGAGCTACAAGCGCTCAGAACTCCCTGCCTGCCACGTGGGAGCCGAGTCTGGAGTCCGTGGGCCTTCTCGGACCAGAGTAGCCCAAAAGGGACCCGGGGTTCTCCATCCTGCCTAGGGATCTCACTCACTCTCTGGATTCAGTCTGACCTTGCCGAGTTAACACCCGGTCCCAGCCCCTCTGCTGAGCTCCAGACTTTGAGCAGTACACCCTCAGGACCAAGCATCATCCCAGGAGCACCTGCTCCTCCCTCCACCTTCCCTGGGCCAGCAGCTGGCACCACCACCTACCTGCTGGCTGGCCAGGTGCCTCCCATCAAGCCTTTCCTTCCCCTGCCCTGTCTGAAGAGAAGCCACGCCCTTTGGCCTCTATGTCTTAAGACTTTCTCCTGAGTCTGTTCTTCTTTCCCCTTTGAGGGTCTCTGCAGAGCTTTCTTCCTCCTCCTCTCTCACCAGAAAGAAGTAGTGGACCCCGCCCCCTGCACCACAGTCCCAACACCCGGTGCAGGTTTCACATTGCACTGCAGGTGTTTTGTGCCGCATCTGTCTCCCCCACCACACTGG
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Task1_train_21718
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Given a variant located on Chromosome 15 and affecting STRA6 (signaling receptor and transporter of retinol STRA6), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Matthew-Wood syndrome
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CCTTCTCGAGCCCTGCAGAGATGCTCACCCCTCCCCCAGGCTCCTGGATCCCCACGGGCCTGAGAGGAGCCAAGAGGAGGAGATCACTTGATTCCCTCCTGCCCCCCACTGGAAAGGACACCTCTTTCTGTTTCTGTGTTCCCGGAGCATTAGGAACAGTTCTGAAAATCACACGAAAGCCTGCCTTTGCCTACATATAGTTTTCAACCTGAGCATCAGGAAAGTCTATGCCCTACTCCTCAGGGCTGAGGCCTTCCTGGGGGTGGGCTTTTTGTATACTCATTCATTTATTTGTTGGTTCAATATACTTTTATTGAGAGCTTAGTATGTGCCAGGTTCTAGGTGGTGAAAAAAAGCCACCAAGTTCCCCCTCTCAAAGCAACCTCTTAGTCTTCACCTCCACCCTGAGGGACTGGTGTTATCAGCTCCATGGACGGATGGAGAAACGGTCTCAGAAAGGTGGCACTGTTTCCCCAAGGCACTTGGTACCACCTGGCATCATTTTGTTTGCGTGTCATGTCTGCCCTTCTGAAGTGACGGCTCTTGGGAGGCTAGGGACTGTTTGTCTTGTTCATAGCTGTAGTCCAGTGCCTGGAAATGTCCCTGGTACAAAGTATGTGCTTCAAATATGTTGTTGAATGAATGGGTGAGTGAATGAATGAAGTGGTGAAGCTGGATTCACACTCAGGTTGTCTGGCTCTAAAGCCTGTACCATCACTCTTTGAGTTCTAGACTGGACAGCTTCACAGCCCCAGCCAGCAGCCAGTGAGCAAGGTCCTGAGGTTCCGGAATTCTCCTCTCAGCCCTCTTAGACCATCCCTGACTTCGCACTTGCCGGCCTCCATCAAGCTTCACTCCCATTCCCTCTCCAGCCTGACCAAAGGGAAGCTGGGGGATCACTAACACAGGCATTGGGGGTGGGGGCCATTTCAGGCTTTCTCTTCCCCCTACTCTGCCCACTTCCCCTTCTCCGCCACCTCCTAGACTTAAAGTTCCTGAGGGCTGGGCCCAGCCACCTTGTTCCCTGCCTCTCCTGCAGAGCAGCCAAGCTTGGAAGGGGCACATGTTTGAAGGCATGGAATCCCATGCACAATGGAAGGCTGCAGGGCGGCCCATCATAGAATCAGAGCTCAAAGGAGGCACTGTGGTTTGAGTAGGTTGCTCTGTGCGCCCCTCTGCCCTAGGCCATTGTGATCAGCGGTTACCTTGGGCACCTGGGGACACTCTGCCCTCTGCCAGACCTGGACCCCAAGGTGGGCCCAGGACAGCGTGCTGCCGAGCAGGTGTGCAGCTGTGTGGCCAGCCGTGGCACAGGCAGCCAGAGGGTAGTAGAGGGCAGCATAATAGAACAGTCCCAGTATCTTCCAGGCCCCTGGAAGGTGAAACAAGCAGAGAGACCCATGCTGGAGGGGCAGACATGGGGCCTGCAGTGAGCCCACCCAGGCCTCTCTTCGGTCTCCAGCTTCCAAGCCCTTCAGCACGTTCAGTGGGCAAGAACACTAGGTTCAAATCCAGGCTCTGACTAGTCTCAACTCTGTGATCTTGGGCAAGTTACCTCTTGGAGCCTCAGTTTTCCCATCTGTAAAATGAAAATAATCACAGTATATTAGCAAGGGCAAAATGAGAAGGTGGATATATAATGCTTAGCATGGTGCCTGAGCAAATACTCAATTTAAGATACTACTTCCCTGGCTCTCAGTTCCTCCATTGCAAAATGGGGCTAATATGCATACTTTGTAGCATCGTTGTAAAGACTGGATGGTCTAAAAAGGTCACGTCTCAGGATAGCAGCCCATCTCATTGACAGCTGTTCCTGTTACTCTCATCTCCTTGAGCCAAGCTTAAAACTCCGAGACCCCACCCTACCCCATCCCATCACACCAACCCCAGGGCCTGGGGGTCAGTGGGTACCTTGGCTGGGTGCTGAGGCGAGAGTCAGGAAGGGCAATGCGTCCTCGTCGGGGAGCAGCAAACACAGGGAGCTCAGGAGGACCATGAAAACAGCAGCAGGCACTGCCCGGGGCCTGTCCCCAGCCAAGAAATCCACAGGGCTAGCACAGAGGCAAGGACAGGGCAGGAGGGAGTTGCTCAGCCCCTGCACCCCCATTACCTCCCAGCTGTATTCCATAAATCAAGGAGGTGGAGTCAGTCCCACTTTCTAGATGGGGGAATAAGGCCCCTTCATTCATTCATTCCATAGATATTTGTGGAGTGCCTCTTATCTACCAAGCTCTGGGCCCCGTGCCAAAGGGACTTGGGACACACATACAGTGGGAAGAAGCCCTAAGACTGCTCCTCCGCCCACCCTGGAAGCTCCAGGAAGCAGCCACCTCCACACTAATTGGTCTGTCTGAGCTGGCAAACCTTCAGAGAACTCAGCGAGTCACAACATCCTTGTACAACAGCCGCCGCCCTGGGCTGGGTGTGGACCCGGGGCAGAGGGCAGACAGCGGGCATAGCTGTCCCAGGCATCACCCTTCTGGGCTCAGGGCAAGCCACTCAGACCCACAGCTTCTGCACTGCAGCTTGCATTCATGCTCTGAGAGGTTCATTCTCCCTCAAACACTGCCCCAGCCAGGGCAAGCTCTTTCTGGGGCCAACCAGAGACCCCAGGCTGGTTCCCCACAAAACCAGCACAGCAAGACCTGCCTCGGTGCACAGTCTGGGTCTGGGATGTGAAGCTGTCTACACCAAGGAGCCACCCATCACCTGCCCCAACCCTTTGGTCTCTCGCACACTAGCTTGCCCAGCCCCATCTCCTCAGGATCATGCCTGTCCAGGCTCTGGAGTCACAGGGCTGAAGGAGATAGGAGAAGAAAGCTCCAGCTATAGGGGCTAGATGTCAGTCCCCATAAATCTGCCTTCAAGCATTAGGGTCCAGGTGATACCCTCAGGGAAGATGACGGTCAAGATGGCATTGGGATGGTCACGTCAATCCACACATGGAGGGCTGCCTGAGAAGGTACACTCTGACGCTGGGTCCTGTCAGGCTTGTTTCCCTAGGGTCTGGGTTGGAGTCCTTTCTCCCAGGCGGGCTTGAGCGAGTCCCTCCCCCTTCCTCTGGGGGTCCTGACTAAACCTGGAGACCTAGGTGGGGGTGAGGAAAGCTCCAGGCTGAGGGCGATAGGGATGTCATTAAAGCCAGAGCTGCCTTTTAGGTACCTAACAAATCACCCACCCTCCCAGAGGGACCCTGTCAGCTGGGTCCCCTGAGTGGGGGTGCCCAGGCCATGGTACAAACCTGGGCAGGCCGGGCCTGCCACGCACACAGTCAGGCCAGAGCTGGCGGCGCCTCACCAGCATGGCCAGGAGCAGCAGCACAAGGATCTGAAAGGAGAGTGCAGAGGAGGGCTTGGGGTGCCCAGGCCTCCCCTGAGGGTCTGAGTTTGAGGGCTTGGACTCAGGCCCCAGGATATCCCCTACCTGCCCAGTGCACACTCATGTGACATCTTGGGGACTGGTCAAGGGGTGACAGACATCTGGAAGGTTGGACTTGCATCCTGGTTTGGGCCTCCAAGCTGGGAGAACTCCCAGATAGCTCCCCCCACCCAGGATCTTCCAGGGCCCCCCTTCACCAGCCCCAGTGGGGAACACAGGTCCCACTGCCCAGGCTGGCAGCAGCTTGCAAGCCAGGTTCAACTTGGGTTGGACTCACTGACAGCGAGGCCAGGCAGGCGTGGTACAGGCCGGGTGGTATGCTGGTGTGGCAGGAGGGCACTTCCCTGCAGAGCAAATGAAGGCTGGCTCAGGCCTGCGTCAGGCCCCCCTGGGTGTGCAGATGGGTCTGGGGTTCAAGACTGTTCACACTGAGGCTTTACCCACTACCTCCCTCAACCCTCTGATCCCTCCTACACAAGCCTTCCCAGTCCCACCTTCTCAGGGTCATTCTGGGGCCCTCGTGTCCCTGTGATGTGCCAGCCCCATGCCAAGCTCTGGGGTTATAAGACTAAAGGACATGGGAAGCTCCCAGGGGAAGCAGAGTAGACCGGCTCGGCCTGATCACTTATTCTCTTTTTTTTTTTTCTGGAGGGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTTACTGCAGCCTCA
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CCTTCTCGAGCCCTGCAGAGATGCTCACCCCTCCCCCAGGCTCCTGGATCCCCACGGGCCTGAGAGGAGCCAAGAGGAGGAGATCACTTGATTCCCTCCTGCCCCCCACTGGAAAGGACACCTCTTTCTGTTTCTGTGTTCCCGGAGCATTAGGAACAGTTCTGAAAATCACACGAAAGCCTGCCTTTGCCTACATATAGTTTTCAACCTGAGCATCAGGAAAGTCTATGCCCTACTCCTCAGGGCTGAGGCCTTCCTGGGGGTGGGCTTTTTGTATACTCATTCATTTATTTGTTGGTTCAATATACTTTTATTGAGAGCTTAGTATGTGCCAGGTTCTAGGTGGTGAAAAAAAGCCACCAAGTTCCCCCTCTCAAAGCAACCTCTTAGTCTTCACCTCCACCCTGAGGGACTGGTGTTATCAGCTCCATGGACGGATGGAGAAACGGTCTCAGAAAGGTGGCACTGTTTCCCCAAGGCACTTGGTACCACCTGGCATCATTTTGTTTGCGTGTCATGTCTGCCCTTCTGAAGTGACGGCTCTTGGGAGGCTAGGGACTGTTTGTCTTGTTCATAGCTGTAGTCCAGTGCCTGGAAATGTCCCTGGTACAAAGTATGTGCTTCAAATATGTTGTTGAATGAATGGGTGAGTGAATGAATGAAGTGGTGAAGCTGGATTCACACTCAGGTTGTCTGGCTCTAAAGCCTGTACCATCACTCTTTGAGTTCTAGACTGGACAGCTTCACAGCCCCAGCCAGCAGCCAGTGAGCAAGGTCCTGAGGTTCCGGAATTCTCCTCTCAGCCCTCTTAGACCATCCCTGACTTCGCACTTGCCGGCCTCCATCAAGCTTCACTCCCATTCCCTCTCCAGCCTGACCAAAGGGAAGCTGGGGGATCACTAACACAGGCATTGGGGGTGGGGGCCATTTCAGGCTTTCTCTTCCCCCTACTCTGCCCACTTCCCCTTCTCCGCCACCTCCTAGACTTAAAGTTCCTGAGGGCTGGGCCCAGCCACCTTGTTCCCTGCCTCTCCTGCAGAGCAGCCAAGCTTGGAAGGGGCACATGTTTGAAGGCATGGAATCCCATGCACAATGGAAGGCTGCAGGGCGGCCCATCATAGAATCAGAGCTCAAAGGAGGCACTGTGGTTTGAGTAGGTTGCTCTGTGCGCCCCTCTGCCCTAGGCCATTGTGATCAGCGGTTACCTTGGGCACCTGGGGACACTCTGCCCTCTGCCAGACCTGGACCCCAAGGTGGGCCCAGGACAGCGTGCTGCCGAGCAGGTGTGCAGCTGTGTGGCCAGCCGTGGCACAGGCAGCCAGAGGGTAGTAGAGGGCAGCATAATAGAACAGTCCCAGTATCTTCCAGGCCCCTGGAAGGTGAAACAAGCAGAGAGACCCATGCTGGAGGGGCAGACATGGGGCCTGCAGTGAGCCCACCCAGGCCTCTCTTCGGTCTCCAGCTTCCAAGCCCTTCAGCACGTTCAGTGGGCAAGAACACTAGGTTCAAATCCAGGCTCTGACTAGTCTCAACTCTGTGATCTTGGGCAAGTTACCTCTTGGAGCCTCAGTTTTCCCATCTGTAAAATGAAAATAATCACAGTATATTAGCAAGGGCAAAATGAGAAGGTGGATATATAATGCTTAGCATGGTGCCTGAGCAAATACTCAATTTAAGATACTACTTCCCTGGCTCTCAGTTCCTCCATTGCAAAATGGGGCTAATATGCATACTTTGTAGCATCGTTGTAAAGACTGGATGGTCTAAAAAGGTCACGTCTCAGGATAGCAGCCCATCTCATTGACAGCTGTTCCTGTTACTCTCATCTCCTTGAGCCAAGCTTAAAACTCCGAGACCCCACCCTACCCCATCCCATCACACCAACCCCAGGGCCTGGGGGTCAGTGGGTACCTTGGCTGGGTGCTGAGGCGAGAGTCAGGAAGGGCAATGCGTCCTCGTCGGGGAGCAGCAAACACAGGGAGCTCAGGAGGACCATGAAAACAGCAGCAGGCACTGCCCGGGGCCTGTCCCCAGCCAAGAAATCCACAAGGCTAGCACAGAGGCAAGGACAGGGCAGGAGGGAGTTGCTCAGCCCCTGCACCCCCATTACCTCCCAGCTGTATTCCATAAATCAAGGAGGTGGAGTCAGTCCCACTTTCTAGATGGGGGAATAAGGCCCCTTCATTCATTCATTCCATAGATATTTGTGGAGTGCCTCTTATCTACCAAGCTCTGGGCCCCGTGCCAAAGGGACTTGGGACACACATACAGTGGGAAGAAGCCCTAAGACTGCTCCTCCGCCCACCCTGGAAGCTCCAGGAAGCAGCCACCTCCACACTAATTGGTCTGTCTGAGCTGGCAAACCTTCAGAGAACTCAGCGAGTCACAACATCCTTGTACAACAGCCGCCGCCCTGGGCTGGGTGTGGACCCGGGGCAGAGGGCAGACAGCGGGCATAGCTGTCCCAGGCATCACCCTTCTGGGCTCAGGGCAAGCCACTCAGACCCACAGCTTCTGCACTGCAGCTTGCATTCATGCTCTGAGAGGTTCATTCTCCCTCAAACACTGCCCCAGCCAGGGCAAGCTCTTTCTGGGGCCAACCAGAGACCCCAGGCTGGTTCCCCACAAAACCAGCACAGCAAGACCTGCCTCGGTGCACAGTCTGGGTCTGGGATGTGAAGCTGTCTACACCAAGGAGCCACCCATCACCTGCCCCAACCCTTTGGTCTCTCGCACACTAGCTTGCCCAGCCCCATCTCCTCAGGATCATGCCTGTCCAGGCTCTGGAGTCACAGGGCTGAAGGAGATAGGAGAAGAAAGCTCCAGCTATAGGGGCTAGATGTCAGTCCCCATAAATCTGCCTTCAAGCATTAGGGTCCAGGTGATACCCTCAGGGAAGATGACGGTCAAGATGGCATTGGGATGGTCACGTCAATCCACACATGGAGGGCTGCCTGAGAAGGTACACTCTGACGCTGGGTCCTGTCAGGCTTGTTTCCCTAGGGTCTGGGTTGGAGTCCTTTCTCCCAGGCGGGCTTGAGCGAGTCCCTCCCCCTTCCTCTGGGGGTCCTGACTAAACCTGGAGACCTAGGTGGGGGTGAGGAAAGCTCCAGGCTGAGGGCGATAGGGATGTCATTAAAGCCAGAGCTGCCTTTTAGGTACCTAACAAATCACCCACCCTCCCAGAGGGACCCTGTCAGCTGGGTCCCCTGAGTGGGGGTGCCCAGGCCATGGTACAAACCTGGGCAGGCCGGGCCTGCCACGCACACAGTCAGGCCAGAGCTGGCGGCGCCTCACCAGCATGGCCAGGAGCAGCAGCACAAGGATCTGAAAGGAGAGTGCAGAGGAGGGCTTGGGGTGCCCAGGCCTCCCCTGAGGGTCTGAGTTTGAGGGCTTGGACTCAGGCCCCAGGATATCCCCTACCTGCCCAGTGCACACTCATGTGACATCTTGGGGACTGGTCAAGGGGTGACAGACATCTGGAAGGTTGGACTTGCATCCTGGTTTGGGCCTCCAAGCTGGGAGAACTCCCAGATAGCTCCCCCCACCCAGGATCTTCCAGGGCCCCCCTTCACCAGCCCCAGTGGGGAACACAGGTCCCACTGCCCAGGCTGGCAGCAGCTTGCAAGCCAGGTTCAACTTGGGTTGGACTCACTGACAGCGAGGCCAGGCAGGCGTGGTACAGGCCGGGTGGTATGCTGGTGTGGCAGGAGGGCACTTCCCTGCAGAGCAAATGAAGGCTGGCTCAGGCCTGCGTCAGGCCCCCCTGGGTGTGCAGATGGGTCTGGGGTTCAAGACTGTTCACACTGAGGCTTTACCCACTACCTCCCTCAACCCTCTGATCCCTCCTACACAAGCCTTCCCAGTCCCACCTTCTCAGGGTCATTCTGGGGCCCTCGTGTCCCTGTGATGTGCCAGCCCCATGCCAAGCTCTGGGGTTATAAGACTAAAGGACATGGGAAGCTCCCAGGGGAAGCAGAGTAGACCGGCTCGGCCTGATCACTTATTCTCTTTTTTTTTTTTCTGGAGGGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTTACTGCAGCCTCA
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Task1_train_21719
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This genomic variant is located on Chromosome 15, within the CYP11A1 (cytochrome P450 family 11 subfamily A member 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
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GGGCAGGAGAGCAGATTGGGCCAGGGGAAAGGAGGCACCTACAGGGAGTCAGGAGGCCCAGGTTCTGGGGGCAAACAGGCTGTGTGACCTCAAGGGACCCAAGCAACCTCTCTGGACTTCAGTTTCCCCATCTATTCCATGTAGAGCTTGACCTCATTGGCTGTAAGCCTCTTTCCAGCTATAACATTTCTGAGTCAAAGCTGACTCAGGACCAGAGAAGAAAAAGGACACAGGAAGGAAAGACAAAGACAACAGGGAAGAGGATTTTGTGGTGGGGAAAGCAGAAGGGCTCCAAGAGTGGATCCAGATCCCACAGCTTCGGGCAGGAGAGGCCAGGCCAGCTGGACCACTGGCCTCAGCTGGACTAGCTCCCCCACCTGCCTGCAGGACTTAGACTTGGATAGCCGAGGGCCAAGAGGAATCAGGTCAGGAGTTGGGAGACCCCAAGGGATTAGGGGGCGGAAGTCGAGACCAGTGTCATTCAGTCCAAATGACAAACCAGCGGCTCTGCTGCAGAATAGTATCCCCACCTCCCACCCTTGGACAAGGGGGCGCAAGCCCCCAGAGCAAGAACACGAGGCCTGGAGCAAGCCCAGAGGAGGCCCGGGAATGGTAAAGGAAGCAGGCTGGCCTCTCATCCCCAGTCAGCCACCTCACACCAGCCCTTCAGTAGCAGGGGTTCTCACCCACAGTTCTCGGCCTTTGCCATGCCCAGGACTCTGGCTGGGCCTTGGCAGGAAGTCCTCATGCCCCACAGGGAACTCCCACCCAGAGTTCACCCAAGCAGAGCCCTGTGCGAGCCTTACCCCTGTGGGGCAGGTCCACTCAGAAAGGCAGTACTGGCCCACACTTCTTGGGGCCACCCACAGAACTCCCCAGTTCTCCTTTGTCCTTCTGCCTGATGCTTCTGTAGCTCCTGGCACAGTAGCAGTTGCCTCCCCTCCTCTGCCCCACTCTGCCTCACCCCTTGCCCCAGGGAGCCTGGAGTTGATTCTGCTGGCTCCTGAACTGCCATGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTTCCTCCCATGTGGCTGCAGGCCATCCTCTCTGATCACTGCTGGGTTGCTTCCTGGTTAAAGGGCCAGAAGGTGAAGGAGATGGGCTTTTCAGGCATCAGAATGAGGTTGAATGTGGTGCCCACATCGCTGAGGTGTTGGATTTCAACTCTGAAGTTCTCCAGCATCTGAGAAAGGCAGATGGTAGGTTTAGGGGAGGGCAGGGGAGGATCTGTCTCCCTAGCCAGGCCAATTCACCCATAGGCAGTGCCTGTGGAGTGTGATTTGAGGAGTTCCAAGGAGTTCACCACCAGCTCCTGGTGTAACCCTGCACAGTGCCTGATAATGCACCCTTAGTGCTGCATTTCCTTGATTTAGGCCTAGACCTTAACTTGTCTACAAACCTCAGTCCTATCCCATCCCATCACCACCATGGGGAATGGATGGCCAGGGGCATCAGTGGGTGATGAGTGGTTGAGCCCGAAAGAGGGGGCAGCAGAGAACTGTGGGAGAGAGCGAGAGCAAGTAACTGGAGGTAGATGCGCCCCAGCACTGACATCCTTGGGCTCTGGACAGAGATAGGAGGAGGAAGATTGGTGCCTTCATTAGGGCCAGGGCCAGCCCAGGGTGCCTAGATGTCCCCAGCTTGACTCACATTGATGAGGAAGATGGTCATCTCTAGCTCAGCGATCCGCCGTCCCAGACACTGCCGCACACCCCAGCCAAAGCCCAAGTTCCGGAAGTAGGTGATGTTCTTGTCTTTGCTCAGCCATCGGGTTGGGTCAAAATTTTCCGGGTCGAAGAAGAAGGTGGGCTCTCGGCCCAGAGCATAGATGGCCACTTGCACCAGTGTCTGGGGCAAGGTGATCAGAGGCCTGAGTAAGCCCCACTTCCCCACAGCCCTGAGCACAAAACCCCCTTCCCTAGTCCCCTGCCCTCTCACCACCACTCCCACTCCCCAGCATGGCTGCCCAGCTCTCCAGGGCAGGACATTCTGCCCACTGTGCAGCCTTGAACAAGGCCCCGCCCCTCTGTAATCCTTACCCACCAAATGGGGATGGCTGAAGACCCAAGGCCAGGATGATTGTCCCACCCTTTCCTCAGACCCAGGCAAATCATGAAGTCTCCCTCCTAACCCTGGGTTCCAATAACATCCTAGAGGTCACCGCCCACCATGCCCACCACCTCTGCCCTTCATTCAGACTTAGACTGCTGCCATCAAGGGCCCCACCAGGGCCCCAGTGCCACCCTCTGTCTGCAATTCCAGCCTGCCCCAGCCCTCTCTGACTGGCAGAGCCTGCAGCCTGCTGGCTGCACCTACCTTGGCAGGAATCATGTAATCTCGAAGAACCAAGTCATTTACAAGATATCTCTGCAGGGTCACGGAGATGGGGTGAAGTCTGCGGGAGGAGGGCACTCAGAAGCTGATGGCCCCAAAGGCTGGACACAGCCGCCGGAGCCCCACACCCTGTGTGGCATCTCAGCCCTAGCTGCAGCAGCCTGGGGGGACCTGGGGGTAGGGCCCTGGCTCTATTTCTTTCTCCTCCAGACTTTTCACTTCCTGCTTCCAACCTCCTCCACCAGCCCATCCTCGTAACCCTTTCCCCGGGCACTTCCCTGGCCCTGCCCAGGGATTGGAGTTGGGGGCGGCATGGGTGGTTGTGGGCTTGCCTTAGTGTCTCCTTGATGCTGGCTTTGAGGAGGGGGACCAGCTGTAGCATCGTGGCCATGTCTCCCTGGGCCTGGTGCCGCGCAGCCAAGACCTCTGCCCGCAGCATATCCTGCACCTTCAGGTTGCGTGCCATCTCATACAAGTGCCACTGCAGGGTCATGGACGTCTGGTGGGGAGTAGGGTATACAGAAGACCAGGAGGGCCTGTCACTCCGGGGCCCCTTGAGGTCCTTGACCCCATGGTAAATTTTCATTTCCAAGAACCTCTTTCTCCCCGAACCCCATCCCAGTCTCCAAGACCATCCTCTGCAAGAGCAAAACACATTCCATTGTCTAAAAGGCAAATGTCCAAGAAGCCTTTCTTGCCGGCCAGGCAGGAACATTCAGGGCAGCACTTGTCCCTGCCCTCGTCCCTCATGTCACCAAAAACCCACCCATGTCCACAGTGAGTAGAGTGTCAGCTACACAGCCAATGCCTTCTTCCAAAGAATTCCAGAGGCCCTTAGAGGCCAAATCCTTCTGTAATGATTGCACTCCAGAATGACTGCCATTCCTTTTGAAATGCCTTGTTAAACAACCACCCCTCTTTCCAGTAGAACTTCCTAAAACCTTAGGCTTCACCTATAGCAACATGGCTTCAAGTAAGGCTCAAAGAAGCTGAAACCAGACCAGCCGGATGTTTCCTATCAGTGTTGCAATTAGGGTGTGGTGTGTGTTGAAATTAATCAGCTAATCTCAACGTAAGCCAGAGGCTGTGACCACTAGCCCTTCGCCAGAGATCTGAGTGACCCTCATCAAACCCCACAGTCCCAGATTCCTCAATGATGACAAACCAGGCCCGTTTGGGACTCCAGCCTGGAGCAGCCCTCCCTCCTGGGGACTAGGACATGGGTTGTTGACACATTATCTTACCAAGGATCATATTTTTGTCCAACAGACTTAGACACCCACCTCCCTCCTCCTGGCAGGGGCAACAATGACAAGCTGTGAGGTACCATTTATTAAGCATATATTATATGGCAGGCAGGGTCCTAAGCTGTTTACATATGTTACCTCGTTTAATACTCACAAACAAACCTCTAAGGTATGTTACCATCATCCCCCTTTTTCAGATG
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GGGCAGGAGAGCAGATTGGGCCAGGGGAAAGGAGGCACCTACAGGGAGTCAGGAGGCCCAGGTTCTGGGGGCAAACAGGCTGTGTGACCTCAAGGGACCCAAGCAACCTCTCTGGACTTCAGTTTCCCCATCTATTCCATGTAGAGCTTGACCTCATTGGCTGTAAGCCTCTTTCCAGCTATAACATTTCTGAGTCAAAGCTGACTCAGGACCAGAGAAGAAAAAGGACACAGGAAGGAAAGACAAAGACAACAGGGAAGAGGATTTTGTGGTGGGGAAAGCAGAAGGGCTCCAAGAGTGGATCCAGATCCCACAGCTTCGGGCAGGAGAGGCCAGGCCAGCTGGACCACTGGCCTCAGCTGGACTAGCTCCCCCACCTGCCTGCAGGACTTAGACTTGGATAGCCGAGGGCCAAGAGGAATCAGGTCAGGAGTTGGGAGACCCCAAGGGATTAGGGGGCGGAAGTCGAGACCAGTGTCATTCAGTCCAAATGACAAACCAGCGGCTCTGCTGCAGAATAGTATCCCCACCTCCCACCCTTGGACAAGGGGGCGCAAGCCCCCAGAGCAAGAACACGAGGCCTGGAGCAAGCCCAGAGGAGGCCCGGGAATGGTAAAGGAAGCAGGCTGGCCTCTCATCCCCAGTCAGCCACCTCACACCAGCCCTTCAGTAGCAGGGGTTCTCACCCACAGTTCTCGGCCTTTGCCATGCCCAGGACTCTGGCTGGGCCTTGGCAGGAAGTCCTCATGCCCCACAGGGAACTCCCACCCAGAGTTCACCCAAGCAGAGCCCTGTGCGAGCCTTACCCCTGTGGGGCAGGTCCACTCAGAAAGGCAGTACTGGCCCACACTTCTTGGGGCCACCCACAGAACTCCCCAGTTCTCCTTTGTCCTTCTGCCTGATGCTTCTGTAGCTCCTGGCACAGTAGCAGTTGCCTCCCCTCCTCTGCCCCACTCTGCCTCACCCCTTGCCCCAGGGAGCCTGGAGTTGATTCTGCTGGCTCCTGAACTGCCATGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTTCCTCCCATGTGGCTGCAGGCCATCCTCTCTGATCACTGCTGGGTTGCTTCCTGGTTAAAGGGCCAGAAGGTGAAGGAGATGGGCTTTTCAGGCATCAGAATGAGGTTGAATGTGGTGCCCACATCGCTGAGGTGTTGGATTTCAACTCTGAAGTTCTCCAGCATCTGAGAAAGGCAGATGGTAGGTTTAGGGGAGGGCAGGGGAGGATCTGTCTCCCTAGCCAGGCCAATTCACCCATAGGCAGTGCCTGTGGAGTGTGATTTGAGGAGTTCCAAGGAGTTCACCACCAGCTCCTGGTGTAACCCTGCACAGTGCCTGATAATGCACCCTTAGTGCTGCATTTCCTTGATTTAGGCCTAGACCTTAACTTGTCTACAAACCTCAGTCCTATCCCATCCCATCACCACCATGGGGAATGGATGGCCAGGGGCATCAGTGGGTGATGAGTGGTTGAGCCCGAAAGAGGGGGCAGCAGAGAACTGTGGGAGAGAGCGAGAGCAAGTAACTGGAGGTAGATGCGCCCCAGCACTGACATCCTTGGGCTCTGGACAGAGATAGGAGGAGGAAGATTGGTGCCTTCATTAGGGCCAGGGCCAGCCCAGGGTGCCTAGATGTCCCCAGCTTGACTCACATTGATGAGGAAGATGGTCATCTCTAGCTCAGCGATCCGCCGTCCCAGACACTGCCGCACACCCCAGCCAAAGCCCAAGTTCCAGAAGTAGGTGATGTTCTTGTCTTTGCTCAGCCATCGGGTTGGGTCAAAATTTTCCGGGTCGAAGAAGAAGGTGGGCTCTCGGCCCAGAGCATAGATGGCCACTTGCACCAGTGTCTGGGGCAAGGTGATCAGAGGCCTGAGTAAGCCCCACTTCCCCACAGCCCTGAGCACAAAACCCCCTTCCCTAGTCCCCTGCCCTCTCACCACCACTCCCACTCCCCAGCATGGCTGCCCAGCTCTCCAGGGCAGGACATTCTGCCCACTGTGCAGCCTTGAACAAGGCCCCGCCCCTCTGTAATCCTTACCCACCAAATGGGGATGGCTGAAGACCCAAGGCCAGGATGATTGTCCCACCCTTTCCTCAGACCCAGGCAAATCATGAAGTCTCCCTCCTAACCCTGGGTTCCAATAACATCCTAGAGGTCACCGCCCACCATGCCCACCACCTCTGCCCTTCATTCAGACTTAGACTGCTGCCATCAAGGGCCCCACCAGGGCCCCAGTGCCACCCTCTGTCTGCAATTCCAGCCTGCCCCAGCCCTCTCTGACTGGCAGAGCCTGCAGCCTGCTGGCTGCACCTACCTTGGCAGGAATCATGTAATCTCGAAGAACCAAGTCATTTACAAGATATCTCTGCAGGGTCACGGAGATGGGGTGAAGTCTGCGGGAGGAGGGCACTCAGAAGCTGATGGCCCCAAAGGCTGGACACAGCCGCCGGAGCCCCACACCCTGTGTGGCATCTCAGCCCTAGCTGCAGCAGCCTGGGGGGACCTGGGGGTAGGGCCCTGGCTCTATTTCTTTCTCCTCCAGACTTTTCACTTCCTGCTTCCAACCTCCTCCACCAGCCCATCCTCGTAACCCTTTCCCCGGGCACTTCCCTGGCCCTGCCCAGGGATTGGAGTTGGGGGCGGCATGGGTGGTTGTGGGCTTGCCTTAGTGTCTCCTTGATGCTGGCTTTGAGGAGGGGGACCAGCTGTAGCATCGTGGCCATGTCTCCCTGGGCCTGGTGCCGCGCAGCCAAGACCTCTGCCCGCAGCATATCCTGCACCTTCAGGTTGCGTGCCATCTCATACAAGTGCCACTGCAGGGTCATGGACGTCTGGTGGGGAGTAGGGTATACAGAAGACCAGGAGGGCCTGTCACTCCGGGGCCCCTTGAGGTCCTTGACCCCATGGTAAATTTTCATTTCCAAGAACCTCTTTCTCCCCGAACCCCATCCCAGTCTCCAAGACCATCCTCTGCAAGAGCAAAACACATTCCATTGTCTAAAAGGCAAATGTCCAAGAAGCCTTTCTTGCCGGCCAGGCAGGAACATTCAGGGCAGCACTTGTCCCTGCCCTCGTCCCTCATGTCACCAAAAACCCACCCATGTCCACAGTGAGTAGAGTGTCAGCTACACAGCCAATGCCTTCTTCCAAAGAATTCCAGAGGCCCTTAGAGGCCAAATCCTTCTGTAATGATTGCACTCCAGAATGACTGCCATTCCTTTTGAAATGCCTTGTTAAACAACCACCCCTCTTTCCAGTAGAACTTCCTAAAACCTTAGGCTTCACCTATAGCAACATGGCTTCAAGTAAGGCTCAAAGAAGCTGAAACCAGACCAGCCGGATGTTTCCTATCAGTGTTGCAATTAGGGTGTGGTGTGTGTTGAAATTAATCAGCTAATCTCAACGTAAGCCAGAGGCTGTGACCACTAGCCCTTCGCCAGAGATCTGAGTGACCCTCATCAAACCCCACAGTCCCAGATTCCTCAATGATGACAAACCAGGCCCGTTTGGGACTCCAGCCTGGAGCAGCCCTCCCTCCTGGGGACTAGGACATGGGTTGTTGACACATTATCTTACCAAGGATCATATTTTTGTCCAACAGACTTAGACACCCACCTCCCTCCTCCTGGCAGGGGCAACAATGACAAGCTGTGAGGTACCATTTATTAAGCATATATTATATGGCAGGCAGGGTCCTAAGCTGTTTACATATGTTACCTCGTTTAATACTCACAAACAAACCTCTAAGGTATGTTACCATCATCCCCCTTTTTCAGATG
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Task1_train_21720
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This alteration occurs within gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant?
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Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
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CTCTCTGGACTTCAGTTTCCCCATCTATTCCATGTAGAGCTTGACCTCATTGGCTGTAAGCCTCTTTCCAGCTATAACATTTCTGAGTCAAAGCTGACTCAGGACCAGAGAAGAAAAAGGACACAGGAAGGAAAGACAAAGACAACAGGGAAGAGGATTTTGTGGTGGGGAAAGCAGAAGGGCTCCAAGAGTGGATCCAGATCCCACAGCTTCGGGCAGGAGAGGCCAGGCCAGCTGGACCACTGGCCTCAGCTGGACTAGCTCCCCCACCTGCCTGCAGGACTTAGACTTGGATAGCCGAGGGCCAAGAGGAATCAGGTCAGGAGTTGGGAGACCCCAAGGGATTAGGGGGCGGAAGTCGAGACCAGTGTCATTCAGTCCAAATGACAAACCAGCGGCTCTGCTGCAGAATAGTATCCCCACCTCCCACCCTTGGACAAGGGGGCGCAAGCCCCCAGAGCAAGAACACGAGGCCTGGAGCAAGCCCAGAGGAGGCCCGGGAATGGTAAAGGAAGCAGGCTGGCCTCTCATCCCCAGTCAGCCACCTCACACCAGCCCTTCAGTAGCAGGGGTTCTCACCCACAGTTCTCGGCCTTTGCCATGCCCAGGACTCTGGCTGGGCCTTGGCAGGAAGTCCTCATGCCCCACAGGGAACTCCCACCCAGAGTTCACCCAAGCAGAGCCCTGTGCGAGCCTTACCCCTGTGGGGCAGGTCCACTCAGAAAGGCAGTACTGGCCCACACTTCTTGGGGCCACCCACAGAACTCCCCAGTTCTCCTTTGTCCTTCTGCCTGATGCTTCTGTAGCTCCTGGCACAGTAGCAGTTGCCTCCCCTCCTCTGCCCCACTCTGCCTCACCCCTTGCCCCAGGGAGCCTGGAGTTGATTCTGCTGGCTCCTGAACTGCCATGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTTCCTCCCATGTGGCTGCAGGCCATCCTCTCTGATCACTGCTGGGTTGCTTCCTGGTTAAAGGGCCAGAAGGTGAAGGAGATGGGCTTTTCAGGCATCAGAATGAGGTTGAATGTGGTGCCCACATCGCTGAGGTGTTGGATTTCAACTCTGAAGTTCTCCAGCATCTGAGAAAGGCAGATGGTAGGTTTAGGGGAGGGCAGGGGAGGATCTGTCTCCCTAGCCAGGCCAATTCACCCATAGGCAGTGCCTGTGGAGTGTGATTTGAGGAGTTCCAAGGAGTTCACCACCAGCTCCTGGTGTAACCCTGCACAGTGCCTGATAATGCACCCTTAGTGCTGCATTTCCTTGATTTAGGCCTAGACCTTAACTTGTCTACAAACCTCAGTCCTATCCCATCCCATCACCACCATGGGGAATGGATGGCCAGGGGCATCAGTGGGTGATGAGTGGTTGAGCCCGAAAGAGGGGGCAGCAGAGAACTGTGGGAGAGAGCGAGAGCAAGTAACTGGAGGTAGATGCGCCCCAGCACTGACATCCTTGGGCTCTGGACAGAGATAGGAGGAGGAAGATTGGTGCCTTCATTAGGGCCAGGGCCAGCCCAGGGTGCCTAGATGTCCCCAGCTTGACTCACATTGATGAGGAAGATGGTCATCTCTAGCTCAGCGATCCGCCGTCCCAGACACTGCCGCACACCCCAGCCAAAGCCCAAGTTCCGGAAGTAGGTGATGTTCTTGTCTTTGCTCAGCCATCGGGTTGGGTCAAAATTTTCCGGGTCGAAGAAGAAGGTGGGCTCTCGGCCCAGAGCATAGATGGCCACTTGCACCAGTGTCTGGGGCAAGGTGATCAGAGGCCTGAGTAAGCCCCACTTCCCCACAGCCCTGAGCACAAAACCCCCTTCCCTAGTCCCCTGCCCTCTCACCACCACTCCCACTCCCCAGCATGGCTGCCCAGCTCTCCAGGGCAGGACATTCTGCCCACTGTGCAGCCTTGAACAAGGCCCCGCCCCTCTGTAATCCTTACCCACCAAATGGGGATGGCTGAAGACCCAAGGCCAGGATGATTGTCCCACCCTTTCCTCAGACCCAGGCAAATCATGAAGTCTCCCTCCTAACCCTGGGTTCCAATAACATCCTAGAGGTCACCGCCCACCATGCCCACCACCTCTGCCCTTCATTCAGACTTAGACTGCTGCCATCAAGGGCCCCACCAGGGCCCCAGTGCCACCCTCTGTCTGCAATTCCAGCCTGCCCCAGCCCTCTCTGACTGGCAGAGCCTGCAGCCTGCTGGCTGCACCTACCTTGGCAGGAATCATGTAATCTCGAAGAACCAAGTCATTTACAAGATATCTCTGCAGGGTCACGGAGATGGGGTGAAGTCTGCGGGAGGAGGGCACTCAGAAGCTGATGGCCCCAAAGGCTGGACACAGCCGCCGGAGCCCCACACCCTGTGTGGCATCTCAGCCCTAGCTGCAGCAGCCTGGGGGGACCTGGGGGTAGGGCCCTGGCTCTATTTCTTTCTCCTCCAGACTTTTCACTTCCTGCTTCCAACCTCCTCCACCAGCCCATCCTCGTAACCCTTTCCCCGGGCACTTCCCTGGCCCTGCCCAGGGATTGGAGTTGGGGGCGGCATGGGTGGTTGTGGGCTTGCCTTAGTGTCTCCTTGATGCTGGCTTTGAGGAGGGGGACCAGCTGTAGCATCGTGGCCATGTCTCCCTGGGCCTGGTGCCGCGCAGCCAAGACCTCTGCCCGCAGCATATCCTGCACCTTCAGGTTGCGTGCCATCTCATACAAGTGCCACTGCAGGGTCATGGACGTCTGGTGGGGAGTAGGGTATACAGAAGACCAGGAGGGCCTGTCACTCCGGGGCCCCTTGAGGTCCTTGACCCCATGGTAAATTTTCATTTCCAAGAACCTCTTTCTCCCCGAACCCCATCCCAGTCTCCAAGACCATCCTCTGCAAGAGCAAAACACATTCCATTGTCTAAAAGGCAAATGTCCAAGAAGCCTTTCTTGCCGGCCAGGCAGGAACATTCAGGGCAGCACTTGTCCCTGCCCTCGTCCCTCATGTCACCAAAAACCCACCCATGTCCACAGTGAGTAGAGTGTCAGCTACACAGCCAATGCCTTCTTCCAAAGAATTCCAGAGGCCCTTAGAGGCCAAATCCTTCTGTAATGATTGCACTCCAGAATGACTGCCATTCCTTTTGAAATGCCTTGTTAAACAACCACCCCTCTTTCCAGTAGAACTTCCTAAAACCTTAGGCTTCACCTATAGCAACATGGCTTCAAGTAAGGCTCAAAGAAGCTGAAACCAGACCAGCCGGATGTTTCCTATCAGTGTTGCAATTAGGGTGTGGTGTGTGTTGAAATTAATCAGCTAATCTCAACGTAAGCCAGAGGCTGTGACCACTAGCCCTTCGCCAGAGATCTGAGTGACCCTCATCAAACCCCACAGTCCCAGATTCCTCAATGATGACAAACCAGGCCCGTTTGGGACTCCAGCCTGGAGCAGCCCTCCCTCCTGGGGACTAGGACATGGGTTGTTGACACATTATCTTACCAAGGATCATATTTTTGTCCAACAGACTTAGACACCCACCTCCCTCCTCCTGGCAGGGGCAACAATGACAAGCTGTGAGGTACCATTTATTAAGCATATATTATATGGCAGGCAGGGTCCTAAGCTGTTTACATATGTTACCTCGTTTAATACTCACAAACAAACCTCTAAGGTATGTTACCATCATCCCCCTTTTTCAGATGCGGAAACTGAAACAACACACAGCTCCTTCTCAGCTTAAAATCCTTGCCTGGCTCCCCAGAGCCTCCAGATGAAATACAGAGGCTCAGGCCTGAGCCACAGGGCCCCT
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CTCTCTGGACTTCAGTTTCCCCATCTATTCCATGTAGAGCTTGACCTCATTGGCTGTAAGCCTCTTTCCAGCTATAACATTTCTGAGTCAAAGCTGACTCAGGACCAGAGAAGAAAAAGGACACAGGAAGGAAAGACAAAGACAACAGGGAAGAGGATTTTGTGGTGGGGAAAGCAGAAGGGCTCCAAGAGTGGATCCAGATCCCACAGCTTCGGGCAGGAGAGGCCAGGCCAGCTGGACCACTGGCCTCAGCTGGACTAGCTCCCCCACCTGCCTGCAGGACTTAGACTTGGATAGCCGAGGGCCAAGAGGAATCAGGTCAGGAGTTGGGAGACCCCAAGGGATTAGGGGGCGGAAGTCGAGACCAGTGTCATTCAGTCCAAATGACAAACCAGCGGCTCTGCTGCAGAATAGTATCCCCACCTCCCACCCTTGGACAAGGGGGCGCAAGCCCCCAGAGCAAGAACACGAGGCCTGGAGCAAGCCCAGAGGAGGCCCGGGAATGGTAAAGGAAGCAGGCTGGCCTCTCATCCCCAGTCAGCCACCTCACACCAGCCCTTCAGTAGCAGGGGTTCTCACCCACAGTTCTCGGCCTTTGCCATGCCCAGGACTCTGGCTGGGCCTTGGCAGGAAGTCCTCATGCCCCACAGGGAACTCCCACCCAGAGTTCACCCAAGCAGAGCCCTGTGCGAGCCTTACCCCTGTGGGGCAGGTCCACTCAGAAAGGCAGTACTGGCCCACACTTCTTGGGGCCACCCACAGAACTCCCCAGTTCTCCTTTGTCCTTCTGCCTGATGCTTCTGTAGCTCCTGGCACAGTAGCAGTTGCCTCCCCTCCTCTGCCCCACTCTGCCTCACCCCTTGCCCCAGGGAGCCTGGAGTTGATTCTGCTGGCTCCTGAACTGCCATGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTTCCTCCCATGTGGCTGCAGGCCATCCTCTCTGATCACTGCTGGGTTGCTTCCTGGTTAAAGGGCCAGAAGGTGAAGGAGATGGGCTTTTCAGGCATCAGAATGAGGTTGAATGTGGTGCCCACATCGCTGAGGTGTTGGATTTCAACTCTGAAGTTCTCCAGCATCTGAGAAAGGCAGATGGTAGGTTTAGGGGAGGGCAGGGGAGGATCTGTCTCCCTAGCCAGGCCAATTCACCCATAGGCAGTGCCTGTGGAGTGTGATTTGAGGAGTTCCAAGGAGTTCACCACCAGCTCCTGGTGTAACCCTGCACAGTGCCTGATAATGCACCCTTAGTGCTGCATTTCCTTGATTTAGGCCTAGACCTTAACTTGTCTACAAACCTCAGTCCTATCCCATCCCATCACCACCATGGGGAATGGATGGCCAGGGGCATCAGTGGGTGATGAGTGGTTGAGCCCGAAAGAGGGGGCAGCAGAGAACTGTGGGAGAGAGCGAGAGCAAGTAACTGGAGGTAGATGCGCCCCAGCACTGACATCCTTGGGCTCTGGACAGAGATAGGAGGAGGAAGATTGGTGCCTTCATTAGGGCCAGGGCCAGCCCAGGGTGCCTAGATGTCCCCAGCTTGACTCACATTGATGAGGAAGATGGTCATCTCTAGCTCAGCGATCCGCCGTCCCAGACACTGCCGCACACCCCAGCCAAAGCCCAAGTTCCGGAAGTAGGTGATGTTCTTGTCTTTGCTCAGCCATCGGGTTGGGTCAAAATTTTCCGGGTCGAAGAAGAAGGTGGGCTCTCGGCCCAGAGCATAGATGGCCACTTGCTCCAGTGTCTGGGGCAAGGTGATCAGAGGCCTGAGTAAGCCCCACTTCCCCACAGCCCTGAGCACAAAACCCCCTTCCCTAGTCCCCTGCCCTCTCACCACCACTCCCACTCCCCAGCATGGCTGCCCAGCTCTCCAGGGCAGGACATTCTGCCCACTGTGCAGCCTTGAACAAGGCCCCGCCCCTCTGTAATCCTTACCCACCAAATGGGGATGGCTGAAGACCCAAGGCCAGGATGATTGTCCCACCCTTTCCTCAGACCCAGGCAAATCATGAAGTCTCCCTCCTAACCCTGGGTTCCAATAACATCCTAGAGGTCACCGCCCACCATGCCCACCACCTCTGCCCTTCATTCAGACTTAGACTGCTGCCATCAAGGGCCCCACCAGGGCCCCAGTGCCACCCTCTGTCTGCAATTCCAGCCTGCCCCAGCCCTCTCTGACTGGCAGAGCCTGCAGCCTGCTGGCTGCACCTACCTTGGCAGGAATCATGTAATCTCGAAGAACCAAGTCATTTACAAGATATCTCTGCAGGGTCACGGAGATGGGGTGAAGTCTGCGGGAGGAGGGCACTCAGAAGCTGATGGCCCCAAAGGCTGGACACAGCCGCCGGAGCCCCACACCCTGTGTGGCATCTCAGCCCTAGCTGCAGCAGCCTGGGGGGACCTGGGGGTAGGGCCCTGGCTCTATTTCTTTCTCCTCCAGACTTTTCACTTCCTGCTTCCAACCTCCTCCACCAGCCCATCCTCGTAACCCTTTCCCCGGGCACTTCCCTGGCCCTGCCCAGGGATTGGAGTTGGGGGCGGCATGGGTGGTTGTGGGCTTGCCTTAGTGTCTCCTTGATGCTGGCTTTGAGGAGGGGGACCAGCTGTAGCATCGTGGCCATGTCTCCCTGGGCCTGGTGCCGCGCAGCCAAGACCTCTGCCCGCAGCATATCCTGCACCTTCAGGTTGCGTGCCATCTCATACAAGTGCCACTGCAGGGTCATGGACGTCTGGTGGGGAGTAGGGTATACAGAAGACCAGGAGGGCCTGTCACTCCGGGGCCCCTTGAGGTCCTTGACCCCATGGTAAATTTTCATTTCCAAGAACCTCTTTCTCCCCGAACCCCATCCCAGTCTCCAAGACCATCCTCTGCAAGAGCAAAACACATTCCATTGTCTAAAAGGCAAATGTCCAAGAAGCCTTTCTTGCCGGCCAGGCAGGAACATTCAGGGCAGCACTTGTCCCTGCCCTCGTCCCTCATGTCACCAAAAACCCACCCATGTCCACAGTGAGTAGAGTGTCAGCTACACAGCCAATGCCTTCTTCCAAAGAATTCCAGAGGCCCTTAGAGGCCAAATCCTTCTGTAATGATTGCACTCCAGAATGACTGCCATTCCTTTTGAAATGCCTTGTTAAACAACCACCCCTCTTTCCAGTAGAACTTCCTAAAACCTTAGGCTTCACCTATAGCAACATGGCTTCAAGTAAGGCTCAAAGAAGCTGAAACCAGACCAGCCGGATGTTTCCTATCAGTGTTGCAATTAGGGTGTGGTGTGTGTTGAAATTAATCAGCTAATCTCAACGTAAGCCAGAGGCTGTGACCACTAGCCCTTCGCCAGAGATCTGAGTGACCCTCATCAAACCCCACAGTCCCAGATTCCTCAATGATGACAAACCAGGCCCGTTTGGGACTCCAGCCTGGAGCAGCCCTCCCTCCTGGGGACTAGGACATGGGTTGTTGACACATTATCTTACCAAGGATCATATTTTTGTCCAACAGACTTAGACACCCACCTCCCTCCTCCTGGCAGGGGCAACAATGACAAGCTGTGAGGTACCATTTATTAAGCATATATTATATGGCAGGCAGGGTCCTAAGCTGTTTACATATGTTACCTCGTTTAATACTCACAAACAAACCTCTAAGGTATGTTACCATCATCCCCCTTTTTCAGATGCGGAAACTGAAACAACACACAGCTCCTTCTCAGCTTAAAATCCTTGCCTGGCTCCCCAGAGCCTCCAGATGAAATACAGAGGCTCAGGCCTGAGCCACAGGGCCCCT
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Task1_train_21721
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A variant was discovered in gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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TGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTTCCTCCCATGTGGCTGCAGGCCATCCTCTCTGATCACTGCTGGGTTGCTTCCTGGTTAAAGGGCCAGAAGGTGAAGGAGATGGGCTTTTCAGGCATCAGAATGAGGTTGAATGTGGTGCCCACATCGCTGAGGTGTTGGATTTCAACTCTGAAGTTCTCCAGCATCTGAGAAAGGCAGATGGTAGGTTTAGGGGAGGGCAGGGGAGGATCTGTCTCCCTAGCCAGGCCAATTCACCCATAGGCAGTGCCTGTGGAGTGTGATTTGAGGAGTTCCAAGGAGTTCACCACCAGCTCCTGGTGTAACCCTGCACAGTGCCTGATAATGCACCCTTAGTGCTGCATTTCCTTGATTTAGGCCTAGACCTTAACTTGTCTACAAACCTCAGTCCTATCCCATCCCATCACCACCATGGGGAATGGATGGCCAGGGGCATCAGTGGGTGATGAGTGGTTGAGCCCGAAAGAGGGGGCAGCAGAGAACTGTGGGAGAGAGCGAGAGCAAGTAACTGGAGGTAGATGCGCCCCAGCACTGACATCCTTGGGCTCTGGACAGAGATAGGAGGAGGAAGATTGGTGCCTTCATTAGGGCCAGGGCCAGCCCAGGGTGCCTAGATGTCCCCAGCTTGACTCACATTGATGAGGAAGATGGTCATCTCTAGCTCAGCGATCCGCCGTCCCAGACACTGCCGCACACCCCAGCCAAAGCCCAAGTTCCGGAAGTAGGTGATGTTCTTGTCTTTGCTCAGCCATCGGGTTGGGTCAAAATTTTCCGGGTCGAAGAAGAAGGTGGGCTCTCGGCCCAGAGCATAGATGGCCACTTGCACCAGTGTCTGGGGCAAGGTGATCAGAGGCCTGAGTAAGCCCCACTTCCCCACAGCCCTGAGCACAAAACCCCCTTCCCTAGTCCCCTGCCCTCTCACCACCACTCCCACTCCCCAGCATGGCTGCCCAGCTCTCCAGGGCAGGACATTCTGCCCACTGTGCAGCCTTGAACAAGGCCCCGCCCCTCTGTAATCCTTACCCACCAAATGGGGATGGCTGAAGACCCAAGGCCAGGATGATTGTCCCACCCTTTCCTCAGACCCAGGCAAATCATGAAGTCTCCCTCCTAACCCTGGGTTCCAATAACATCCTAGAGGTCACCGCCCACCATGCCCACCACCTCTGCCCTTCATTCAGACTTAGACTGCTGCCATCAAGGGCCCCACCAGGGCCCCAGTGCCACCCTCTGTCTGCAATTCCAGCCTGCCCCAGCCCTCTCTGACTGGCAGAGCCTGCAGCCTGCTGGCTGCACCTACCTTGGCAGGAATCATGTAATCTCGAAGAACCAAGTCATTTACAAGATATCTCTGCAGGGTCACGGAGATGGGGTGAAGTCTGCGGGAGGAGGGCACTCAGAAGCTGATGGCCCCAAAGGCTGGACACAGCCGCCGGAGCCCCACACCCTGTGTGGCATCTCAGCCCTAGCTGCAGCAGCCTGGGGGGACCTGGGGGTAGGGCCCTGGCTCTATTTCTTTCTCCTCCAGACTTTTCACTTCCTGCTTCCAACCTCCTCCACCAGCCCATCCTCGTAACCCTTTCCCCGGGCACTTCCCTGGCCCTGCCCAGGGATTGGAGTTGGGGGCGGCATGGGTGGTTGTGGGCTTGCCTTAGTGTCTCCTTGATGCTGGCTTTGAGGAGGGGGACCAGCTGTAGCATCGTGGCCATGTCTCCCTGGGCCTGGTGCCGCGCAGCCAAGACCTCTGCCCGCAGCATATCCTGCACCTTCAGGTTGCGTGCCATCTCATACAAGTGCCACTGCAGGGTCATGGACGTCTGGTGGGGAGTAGGGTATACAGAAGACCAGGAGGGCCTGTCACTCCGGGGCCCCTTGAGGTCCTTGACCCCATGGTAAATTTTCATTTCCAAGAACCTCTTTCTCCCCGAACCCCATCCCAGTCTCCAAGACCATCCTCTGCAAGAGCAAAACACATTCCATTGTCTAAAAGGCAAATGTCCAAGAAGCCTTTCTTGCCGGCCAGGCAGGAACATTCAGGGCAGCACTTGTCCCTGCCCTCGTCCCTCATGTCACCAAAAACCCACCCATGTCCACAGTGAGTAGAGTGTCAGCTACACAGCCAATGCCTTCTTCCAAAGAATTCCAGAGGCCCTTAGAGGCCAAATCCTTCTGTAATGATTGCACTCCAGAATGACTGCCATTCCTTTTGAAATGCCTTGTTAAACAACCACCCCTCTTTCCAGTAGAACTTCCTAAAACCTTAGGCTTCACCTATAGCAACATGGCTTCAAGTAAGGCTCAAAGAAGCTGAAACCAGACCAGCCGGATGTTTCCTATCAGTGTTGCAATTAGGGTGTGGTGTGTGTTGAAATTAATCAGCTAATCTCAACGTAAGCCAGAGGCTGTGACCACTAGCCCTTCGCCAGAGATCTGAGTGACCCTCATCAAACCCCACAGTCCCAGATTCCTCAATGATGACAAACCAGGCCCGTTTGGGACTCCAGCCTGGAGCAGCCCTCCCTCCTGGGGACTAGGACATGGGTTGTTGACACATTATCTTACCAAGGATCATATTTTTGTCCAACAGACTTAGACACCCACCTCCCTCCTCCTGGCAGGGGCAACAATGACAAGCTGTGAGGTACCATTTATTAAGCATATATTATATGGCAGGCAGGGTCCTAAGCTGTTTACATATGTTACCTCGTTTAATACTCACAAACAAACCTCTAAGGTATGTTACCATCATCCCCCTTTTTCAGATGCGGAAACTGAAACAACACACAGCTCCTTCTCAGCTTAAAATCCTTGCCTGGCTCCCCAGAGCCTCCAGATGAAATACAGAGGCTCAGGCCTGAGCCACAGGGCCCCTCAACACCTGCCTGCTGCTCCCCAATACCCCACTCCCCACCTCTCTCCAACACACACCTAATGTTCCAGCTACATGGAGTGGCACACAGCCCCTGAAGCCCAGAAGTCTTCCCCACGCTAGGTCCTCTTCCTGGAATTCCCTTCCCCGCCTAAGAAGGAAGGATGTGCTCCCTCTGCAAGACTCTAATCAAATGTGTGTATTCATCTCAGTACTGCCAAGGCCTGCCATAGAGATGTACTTGGGATTTAATAAGGTGGTTAACTATGTTACTAGCTGTGTGACCTCGACCAAGTTATTTAACCTCTCTGTGCTCTACTTTCCTCATCTGAAAAAGGGGGATGATGGTAACATACCTTAGAGGGTTGTTTGTGAGTATTAAATGAGGTAACATATGTAAACAGCTTAGGACCCTGCCTGCCATATAGTATGTGCTTAATAAATGTGACCTCACAGTAATCGTTTCTTTGGTGCCGGTGAGTGATTTTTGAAGATCTCTTCTACGTAATAGACAATGAACTATGTTTAAGGTATGCTCAAAGGCTCCATTTGCAGTCTGTCTCAGGGATGGAAACTCCTTCATCAGAGTGTAACACAGATATAATACCTGGGAATGAAAGTGATTCACCCAGGGGGCTTGACATGTGCTTCTCCCTAGTCCTGAAATGCTATTCCTTCTCTCTCCTCCTGGCAACAGCCTGCAAGACACGCACGTTGAATTTTAGCTCCTCTGTGGAGCCTTCTCCGTGTCCTTCATGGCCACATTAGCCACTCCCCACCTCTCAGCTTTGTCAGTGGCAGGTGCTTGCCTCTGTCACTGCAGTGTGCTATTCCTCCGTTCACACTGCTGCCTCCCTGTTATAGGCTGAGCTGTATACCCCCTCCCAAAATTCATCTGCTGAAGTCCTAA
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TGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTTCCTCCCATGTGGCTGCAGGCCATCCTCTCTGATCACTGCTGGGTTGCTTCCTGGTTAAAGGGCCAGAAGGTGAAGGAGATGGGCTTTTCAGGCATCAGAATGAGGTTGAATGTGGTGCCCACATCGCTGAGGTGTTGGATTTCAACTCTGAAGTTCTCCAGCATCTGAGAAAGGCAGATGGTAGGTTTAGGGGAGGGCAGGGGAGGATCTGTCTCCCTAGCCAGGCCAATTCACCCATAGGCAGTGCCTGTGGAGTGTGATTTGAGGAGTTCCAAGGAGTTCACCACCAGCTCCTGGTGTAACCCTGCACAGTGCCTGATAATGCACCCTTAGTGCTGCATTTCCTTGATTTAGGCCTAGACCTTAACTTGTCTACAAACCTCAGTCCTATCCCATCCCATCACCACCATGGGGAATGGATGGCCAGGGGCATCAGTGGGTGATGAGTGGTTGAGCCCGAAAGAGGGGGCAGCAGAGAACTGTGGGAGAGAGCGAGAGCAAGTAACTGGAGGTAGATGCGCCCCAGCACTGACATCCTTGGGCTCTGGACAGAGATAGGAGGAGGAAGATTGGTGCCTTCATTAGGGCCAGGGCCAGCCCAGGGTGCCTAGATGTCCCCAGCTTGACTCACATTGATGAGGAAGATGGTCATCTCTAGCTCAGCGATCCGCCGTCCCAGACACTGCCGCACACCCCAGCCAAAGCCCAAGTTCCGGAAGTAGGTGATGTTCTTGTCTTTGCTCAGCCATCGGGTTGGGTCAAAATTTTCCGGGTCGAAGAAGAAGGTGGGCTCTCGGCCCAGAGCATAGATGGCCACTTGCACCAGTGTCTGGGGCAAGGTGATCAGAGGCCTGAGTAAGCCCCACTTCCCCACAGCCCTGAGCACAAAACCCCCTTCCCTAGTCCCCTGCCCTCTCACCACCACTCCCACTCCCCAGCATGGCTGCCCAGCTCTCCAGGGCAGGACATTCTGCCCACTGTGCAGCCTTGAACAAGGCCCCGCCCCTCTGTAATCCTTACCCACCAAATGGGGATGGCTGAAGACCCAAGGCCAGGATGATTGTCCCACCCTTTCCTCAGACCCAGGCAAATCATGAAGTCTCCCTCCTAACCCTGGGTTCCAATAACATCCTAGAGGTCACCGCCCACCATGCCCACCACCTCTGCCCTTCATTCAGACTTAGACTGCTGCCATCAAGGGCCCCACCAGGGCCCCAGTGCCACCCTCTGTCTGCAATTCCAGCCTGCCCCAGCCCTCTCTGACTGGCAGAGCCTGCAGCCTGCTGGCTGCACCTACCTTGGCAGGAATCATGTAATCTCGAAGAACCAAGTCATTTACAAGATATCTCTGCAGGGTCACGGAGATGGGGTGAAGTCTGCGGGAGGAGGGCACTCAGAAGCTGATGGCCCCAAAGGCTGGACACAGCCGCCGGAGCCCCACACCCTGTGTGGCATCTCAGCCCTAGCTGCAGCAGCCTGGGGGGACCTGGGGGTAGGGCCCTGGCTCTATTTCTTTCTCCTCCAGACTTTTCACTTCCTGCTTCCAACCTCCTCCACCAGCCCATCCTCGTAACCCTTTCCCCGGGCACTTCCCTGGCCCTGCCCAGGGATTGGAGTTGGGGGCGGCATGGGTGGTTGTGGGCTTGCCTTAGTGTCTCCTTGATGCTGGCTTTGAGGAGGGGGACCAGCTGTAGCATCGTGGCCATGTCTCCCTGGGCCTGGTGCCGCACAGCCAAGACCTCTGCCCGCAGCATATCCTGCACCTTCAGGTTGCGTGCCATCTCATACAAGTGCCACTGCAGGGTCATGGACGTCTGGTGGGGAGTAGGGTATACAGAAGACCAGGAGGGCCTGTCACTCCGGGGCCCCTTGAGGTCCTTGACCCCATGGTAAATTTTCATTTCCAAGAACCTCTTTCTCCCCGAACCCCATCCCAGTCTCCAAGACCATCCTCTGCAAGAGCAAAACACATTCCATTGTCTAAAAGGCAAATGTCCAAGAAGCCTTTCTTGCCGGCCAGGCAGGAACATTCAGGGCAGCACTTGTCCCTGCCCTCGTCCCTCATGTCACCAAAAACCCACCCATGTCCACAGTGAGTAGAGTGTCAGCTACACAGCCAATGCCTTCTTCCAAAGAATTCCAGAGGCCCTTAGAGGCCAAATCCTTCTGTAATGATTGCACTCCAGAATGACTGCCATTCCTTTTGAAATGCCTTGTTAAACAACCACCCCTCTTTCCAGTAGAACTTCCTAAAACCTTAGGCTTCACCTATAGCAACATGGCTTCAAGTAAGGCTCAAAGAAGCTGAAACCAGACCAGCCGGATGTTTCCTATCAGTGTTGCAATTAGGGTGTGGTGTGTGTTGAAATTAATCAGCTAATCTCAACGTAAGCCAGAGGCTGTGACCACTAGCCCTTCGCCAGAGATCTGAGTGACCCTCATCAAACCCCACAGTCCCAGATTCCTCAATGATGACAAACCAGGCCCGTTTGGGACTCCAGCCTGGAGCAGCCCTCCCTCCTGGGGACTAGGACATGGGTTGTTGACACATTATCTTACCAAGGATCATATTTTTGTCCAACAGACTTAGACACCCACCTCCCTCCTCCTGGCAGGGGCAACAATGACAAGCTGTGAGGTACCATTTATTAAGCATATATTATATGGCAGGCAGGGTCCTAAGCTGTTTACATATGTTACCTCGTTTAATACTCACAAACAAACCTCTAAGGTATGTTACCATCATCCCCCTTTTTCAGATGCGGAAACTGAAACAACACACAGCTCCTTCTCAGCTTAAAATCCTTGCCTGGCTCCCCAGAGCCTCCAGATGAAATACAGAGGCTCAGGCCTGAGCCACAGGGCCCCTCAACACCTGCCTGCTGCTCCCCAATACCCCACTCCCCACCTCTCTCCAACACACACCTAATGTTCCAGCTACATGGAGTGGCACACAGCCCCTGAAGCCCAGAAGTCTTCCCCACGCTAGGTCCTCTTCCTGGAATTCCCTTCCCCGCCTAAGAAGGAAGGATGTGCTCCCTCTGCAAGACTCTAATCAAATGTGTGTATTCATCTCAGTACTGCCAAGGCCTGCCATAGAGATGTACTTGGGATTTAATAAGGTGGTTAACTATGTTACTAGCTGTGTGACCTCGACCAAGTTATTTAACCTCTCTGTGCTCTACTTTCCTCATCTGAAAAAGGGGGATGATGGTAACATACCTTAGAGGGTTGTTTGTGAGTATTAAATGAGGTAACATATGTAAACAGCTTAGGACCCTGCCTGCCATATAGTATGTGCTTAATAAATGTGACCTCACAGTAATCGTTTCTTTGGTGCCGGTGAGTGATTTTTGAAGATCTCTTCTACGTAATAGACAATGAACTATGTTTAAGGTATGCTCAAAGGCTCCATTTGCAGTCTGTCTCAGGGATGGAAACTCCTTCATCAGAGTGTAACACAGATATAATACCTGGGAATGAAAGTGATTCACCCAGGGGGCTTGACATGTGCTTCTCCCTAGTCCTGAAATGCTATTCCTTCTCTCTCCTCCTGGCAACAGCCTGCAAGACACGCACGTTGAATTTTAGCTCCTCTGTGGAGCCTTCTCCGTGTCCTTCATGGCCACATTAGCCACTCCCCACCTCTCAGCTTTGTCAGTGGCAGGTGCTTGCCTCTGTCACTGCAGTGTGCTATTCCTCCGTTCACACTGCTGCCTCCCTGTTATAGGCTGAGCTGTATACCCCCTCCCAAAATTCATCTGCTGAAGTCCTAA
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Task1_train_21722
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A genomic change on Chromosome 15 affects CYP11A1 (cytochrome P450 family 11 subfamily A member 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
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GAAAGAGGCCTTTAGAATGCACCAACCCTGCCAACACCTTGACCTTGAACTTCCAGCCTCCGGAACTGTGAGAAAATCAATGTTTGTTGTTTAAATCGCCCAGTCAATGCCATTTTGTTACAGCGGCCCTAGCAAACCAGTACACCCCTCCCCTCTGAGCCACGTGAGGACATTTGAGGTCTACTGTATTCCTTTTGAGATGGAGTCTCACACTACCACCTGAGCTGGAGTGCAGTGGTGCGATCTCGGCTCACCACAATCTCTGCCTCACGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGTAGGTGCCCACCACCAGGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCATGATCCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAGGACTGATTATTCTTAATATCCAAAGAAAGAAGTTTCTAGGGTGCCATGCTGCTATGGAAAGAGCACTGGGGATGCCTCTGGGCGTTGGGGGCACCGTAGGGTACTGAGGTCTGGAAAGGGGAGGAGGAAGGACAACAAAAAGACCATGGACGGCAGAGCCCACAGCAAATGCCTCGGCCTCCCAATGTTTCCGGGCTCCTGCCTGCTTCCCTGGATTTGAGTGAGTGTGTTCTCCACCAGGAGCTGGGGGCATTGTCCTCCATCAGCAGGGCTCTGATAGAGCAAGCCTCCAGAGGGGACCTCCTCCTGTGGAGACTCTACGTGGAACCTGGACCTCACCACCATGCCCGGCCACTCCTCTCTCACAGGCAAAGAAAAATAGCTGATCATCCTCAAATCATGCCCTGGGTGACTTGACTTTGACCCCACCATCTTAGGAGATTAGCGCTTTGGAAATGGAGGCAAGGAGGAAGACATATCCTACATGAGTAGGAACGCCTTGAACAACAGGGTTTCAGACAACGAGGGGCCTGGTGGGGAAGGGGCACGTGGGCACAGGGGGCAACAAGGTGCCGCCCCTACAGCCACCTCACCGTGTCCACCCCTCCTGCCAGCATCTCTGTGACGTTGGCCTTGATGTCCTCGAAGGACATCTTGCTGTCTCCCAGGAGTCTGTAGAGGATGCCACGGTAATCGTGGTGAACACTTCCTTTCTGTCTCAATTCCCAGTAGAAGTTCTGGGTGTATATGTCAGCTGTGGGGAAGGAGGAAAGAAAAAAGAGTGAGGTTCCCTGCAGGCGGGTGGGAAGGAGGGCAGTCTGTGGTGAAAGGTGGCACCAAGGGCCTGGGGATTCCGGAGCCCTGTGCTTCTTAGGCTGCCGTTTTACTGAGCACGTACTCTGTACTAAGCCCTTCATATCTGTTTTTTCATCGAATTCTTGGGGTATGTGACATCATCCCCATTTTACAGATAACAGAGGTGCAGAGACATAGTCACTTGCCCAAGGTCACATGGCTGTAAGGGGCAGAGGTGGGATTTGACTCTGCCATACCCTGACGAGCCTTCTCCACCCAACCTTCCCCATCTCTCCCACCCAAGTCCCTGTCATCCAGCACAGCCGTGGCTCAGACACTGGTCCTTTGCCCTCTGGGGAGCATGAGCTCCTTTGAAGAAGATCACAGATGTCTTTGCTCCTCTTTTTCCAGAAAAATCTAATAATCCCCAACAGCCAGCCTTCCATCCGCCATTTCCAGGGGTCCCAGGGCCTTCCTGACACCCACGCCTGCCCGCCACAGTGTGGGTTTCCTACAGGTCAAGTCAGCGCCCATTGACATAGCGTGGGACAAAGGAGCCGGCTGAGGCCTGGGGCTCCGAGGAGGAGAGCACAGCCAGAGAAGCCCTCACCTTTACTGAAAATCACGTCCCATGCAGCCACATGGTCCTTCCAGGTCTTGGTCCTGAACAGACGGAACAGGTCTGGGGGAAGGTTGAGCATGGGGACGCTGGTGTGGAACATCTGGTAGATGGCATCAATGAATCGCTGGGCCTCGGGGTTCACTACTTCCTCCAGCATCCCCTGGCGCTCCCCAAAAATGACGTTAGTGATGGCTGCAGGGAGAGGAAGAGGCTGAGGAGCCATTTCTGACGGGGCCATCTGAGAGCCACAACTCCCAGGGACTCCTCCACCCTCACCTCCCTCAGCACAAAGGATCTCTTGCCCCTACCCTCAGCCTCCTTCAGTAAATAAATTGAGGCCTGAGTCCCAAAGGGCTAAGATGCAAGGCTGAGAAAGCTGACCTCTGGCAACCACACAGGTCCTGCAGAGGGGCATGTGGAGGACCTGAAAGGTGGGAAGCAGGGTCTCCAGCAGAGCTGAGAGAGGGCCTAGCCCAGGATGCAACTGCTCTGCCCAGGCTTCCACCAAGAGAGATTCCTCATCTGTAATTGGCTGAATTGGCTAAATACTTCCTGAAACAGGTCAGAAAGGAGACTGAGGGTCATAAATCCCTGGATAATTAACCATCCAGGACCTAGTCTTGCTGGACCTAAGAAGTTACAACAGCCTCAAGTTTTCCCCACCTACCAGGTGAGTAATTTGAATACTGATTTCATACAAAGCTCTGGGCACCCCAAATCTCTTGCTGTGACCACACAATCTTCATCAAGCCACAGGGCCTTTGTATGTGTGGTTCCCTCTACCTATACTGCCTGACTTCCTTACCCCATCTAGATAACTCCTACAGATTCCTCAATGCCTACCTCAGATTAACCACTGAACTCTCCTCTACCCTACCAGACTCCAAAGGTCTATGGCCCAGGAGGTGGAGACTTGCAGAATGAAGGTCCAAGCCAAGCTCTGGCTTTGGCGGATGGTGGCAATAGGGACCTGTACTTTGGGGACCCTTGCTCCTACAGCACAAATGCCAGATGAGAGAGAATGCCAGATGAGAGAACCCCAGAGCAAGGGGTCTCACTCTGTTGCCCAGGGTGGTCTTAAATTGCCTCTGAGTAGCAGGCAGTGGAGGACATGATCAGCGGCTCATCCCAGAAGTCAGTCTCAATGCCTCTGCAGGGTCTGTACTGAACCTCAAGGTAAGAGAGTGAACACTGAGTCCTCCCACCCCCATGCCCACTGCCAGCCAGGTGCAAGCCCCCTTACACTCAAAGGCAAAGCGGAACAGGTCATCACTGATGTCCCCCGAGTAATTTCCGGAGCCCGCCTTCTTGATGCGCCTGTGCAGGACACTGACGAAGTCCCGAGACACTGCATCCAACAGGGGCAAAAAGTTCTTGGTGGCCTCTGGAGCCATCACCTCCTGGTTCAGGGCCACCCGGTCTTTCTTCCAGGCTGCCGACTTCCTGAGAAAACATGGGCCCACAAGCCCTCATGGTCACAGACCCCAGGCCTGGTGAACACAGAGGGGGCTGACTCAGTTTTCCCAGGAAGCTGAGTCACAGCTCACAGCATCCAGCACTCCCACCAGGGCCTCTGCCCTCACCTCTCCGAGCACCCTCTGCCTCTCACCTCCTCCCTGCTCTGCCTGGCTGGGAGAAGAGAAAGGAAAAAAGAGAGTGAAGGGGAACAAAACTCCAACTCCCCTCCACTCCCTCTGCTGAGGGCCAGGAACTGATATTCTTAGAACCCTTTGTGTAACTTTCAGTCTCTCCAGTCTTTGCCTCAGCTGCAGGCATGCCTTCCATGCCACTCCCACTTCCTCCTGGCCGATGCTCACCTTTGACACTCCAGGGCCCCTCTATATAACATTTTCTGACTCTTGCACAAACAAAATTGACCAGCCTCTCCTCCTCTGCACCCCCAACACGTCCCATTACTCACTTCTGTCGGGGGACCTCAGGTGCCCCGAACTGGGTTGGTCATAATAAACCTTAATTCATGCACACTCTTGAAATTCATCAATCCATGCAAAGTCCTCTTCGTGACTTGGGGGTGTTTTTGTTGATAAGAATATTATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGA
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GAAAGAGGCCTTTAGAATGCACCAACCCTGCCAACACCTTGACCTTGAACTTCCAGCCTCCGGAACTGTGAGAAAATCAATGTTTGTTGTTTAAATCGCCCAGTCAATGCCATTTTGTTACAGCGGCCCTAGCAAACCAGTACACCCCTCCCCTCTGAGCCACGTGAGGACATTTGAGGTCTACTGTATTCCTTTTGAGATGGAGTCTCACACTACCACCTGAGCTGGAGTGCAGTGGTGCGATCTCGGCTCACCACAATCTCTGCCTCACGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGTAGGTGCCCACCACCAGGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCATGATCCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAGGACTGATTATTCTTAATATCCAAAGAAAGAAGTTTCTAGGGTGCCATGCTGCTATGGAAAGAGCACTGGGGATGCCTCTGGGCGTTGGGGGCACCGTAGGGTACTGAGGTCTGGAAAGGGGAGGAGGAAGGACAACAAAAAGACCATGGACGGCAGAGCCCACAGCAAATGCCTCGGCCTCCCAATGTTTCCGGGCTCCTGCCTGCTTCCCTGGATTTGAGTGAGTGTGTTCTCCACCAGGAGCTGGGGGCATTGTCCTCCATCAGCAGGGCTCTGATAGAGCAAGCCTCCAGAGGGGACCTCCTCCTGTGGAGACTCTACGTGGAACCTGGACCTCACCACCATGCCCGGCCACTCCTCTCTCACAGGCAAAGAAAAATAGCTGATCATCCTCAAATCATGCCCTGGGTGACTTGACTTTGACCCCACCATCTTAGGAGATTAGCGCTTTGGAAATGGAGGCAAGGAGGAAGACATATCCTACATGAGTAGGAACGCCTTGAACAACAGGGTTTCAGACAACGAGGGGCCTGGTGGGGAAGGGGCACGTGGGCACAGGGGGCAACAAGGTGCCGCCCCTACAGCCACCTCACCGTGTCCACCCCTCCTGCCAGCATCTCTGTGACGTTGGCCTTGATGTCCTCGAAGGACATCTTGCTGTCTCCCAGGAGTCTGTAGAGGATGCCACGGTAATCGTGGTGAACACTTCCTTTCTGTCTCAATTCCCAGTAGAAGTTCTGGGTGTATATGTCAGCTGTGGGGAAGGAGGAAAGAAAAAAGAGTGAGGTTCCCTGCAGGCGGGTGGGAAGGAGGGCAGTCTGTGGTGAAAGGTGGCACCAAGGGCCTGGGGATTCCGGAGCCCTGTGCTTCTTAGGCTGCCGTTTTACTGAGCACGTACTCTGTACTAAGCCCTTCATATCTGTTTTTTCATCGAATTCTTGGGGTATGTGACATCATCCCCATTTTACAGATAACAGAGGTGCAGAGACATAGTCACTTGCCCAAGGTCACATGGCTGTAAGGGGCAGAGGTGGGATTTGACTCTGCCATACCCTGACGAGCCTTCTCCACCCAACCTTCCCCATCTCTCCCACCCAAGTCCCTGTCATCCAGCACAGCCGTGGCTCAGACACTGGTCCTTTGCCCTCTGGGGAGCATGAGCTCCTTTGAAGAAGATCACAGATGTCTTTGCTCCTCTTTTTCCAGAAAAATCTAATAATCCCCAACAGCCAGCCTTCCATCCGCCATTTCCAGGGGTCCCAGGGCCTTCCTGACACCCACGCCTGCCCGCCACAGTGTGGGTTTCCTACAGGTCAAGTCAGCGCCCATTGACATAGCGTGGGACAAAGGAGCCGGCTGAGGCCTGGGGCTCCGAGGAGGAGAGCACAGCCAGAGAAGCCCTCACCTTTACTGAAAATCACGTCCCATGCAGCCACATGGTCCTTCCAGGTCTTGGTCCTGAACAGACGGAACAGGTCTGGGGGAAGGTTGAGCATGGGGACGCTGGTGTGGAACATCTGGTAGATGGCATCAATGAATCGCTGGGCCTCGGGGTTCACTACTTCCTCCGGCATCCCCTGGCGCTCCCCAAAAATGACGTTAGTGATGGCTGCAGGGAGAGGAAGAGGCTGAGGAGCCATTTCTGACGGGGCCATCTGAGAGCCACAACTCCCAGGGACTCCTCCACCCTCACCTCCCTCAGCACAAAGGATCTCTTGCCCCTACCCTCAGCCTCCTTCAGTAAATAAATTGAGGCCTGAGTCCCAAAGGGCTAAGATGCAAGGCTGAGAAAGCTGACCTCTGGCAACCACACAGGTCCTGCAGAGGGGCATGTGGAGGACCTGAAAGGTGGGAAGCAGGGTCTCCAGCAGAGCTGAGAGAGGGCCTAGCCCAGGATGCAACTGCTCTGCCCAGGCTTCCACCAAGAGAGATTCCTCATCTGTAATTGGCTGAATTGGCTAAATACTTCCTGAAACAGGTCAGAAAGGAGACTGAGGGTCATAAATCCCTGGATAATTAACCATCCAGGACCTAGTCTTGCTGGACCTAAGAAGTTACAACAGCCTCAAGTTTTCCCCACCTACCAGGTGAGTAATTTGAATACTGATTTCATACAAAGCTCTGGGCACCCCAAATCTCTTGCTGTGACCACACAATCTTCATCAAGCCACAGGGCCTTTGTATGTGTGGTTCCCTCTACCTATACTGCCTGACTTCCTTACCCCATCTAGATAACTCCTACAGATTCCTCAATGCCTACCTCAGATTAACCACTGAACTCTCCTCTACCCTACCAGACTCCAAAGGTCTATGGCCCAGGAGGTGGAGACTTGCAGAATGAAGGTCCAAGCCAAGCTCTGGCTTTGGCGGATGGTGGCAATAGGGACCTGTACTTTGGGGACCCTTGCTCCTACAGCACAAATGCCAGATGAGAGAGAATGCCAGATGAGAGAACCCCAGAGCAAGGGGTCTCACTCTGTTGCCCAGGGTGGTCTTAAATTGCCTCTGAGTAGCAGGCAGTGGAGGACATGATCAGCGGCTCATCCCAGAAGTCAGTCTCAATGCCTCTGCAGGGTCTGTACTGAACCTCAAGGTAAGAGAGTGAACACTGAGTCCTCCCACCCCCATGCCCACTGCCAGCCAGGTGCAAGCCCCCTTACACTCAAAGGCAAAGCGGAACAGGTCATCACTGATGTCCCCCGAGTAATTTCCGGAGCCCGCCTTCTTGATGCGCCTGTGCAGGACACTGACGAAGTCCCGAGACACTGCATCCAACAGGGGCAAAAAGTTCTTGGTGGCCTCTGGAGCCATCACCTCCTGGTTCAGGGCCACCCGGTCTTTCTTCCAGGCTGCCGACTTCCTGAGAAAACATGGGCCCACAAGCCCTCATGGTCACAGACCCCAGGCCTGGTGAACACAGAGGGGGCTGACTCAGTTTTCCCAGGAAGCTGAGTCACAGCTCACAGCATCCAGCACTCCCACCAGGGCCTCTGCCCTCACCTCTCCGAGCACCCTCTGCCTCTCACCTCCTCCCTGCTCTGCCTGGCTGGGAGAAGAGAAAGGAAAAAAGAGAGTGAAGGGGAACAAAACTCCAACTCCCCTCCACTCCCTCTGCTGAGGGCCAGGAACTGATATTCTTAGAACCCTTTGTGTAACTTTCAGTCTCTCCAGTCTTTGCCTCAGCTGCAGGCATGCCTTCCATGCCACTCCCACTTCCTCCTGGCCGATGCTCACCTTTGACACTCCAGGGCCCCTCTATATAACATTTTCTGACTCTTGCACAAACAAAATTGACCAGCCTCTCCTCCTCTGCACCCCCAACACGTCCCATTACTCACTTCTGTCGGGGGACCTCAGGTGCCCCGAACTGGGTTGGTCATAATAAACCTTAATTCATGCACACTCTTGAAATTCATCAATCCATGCAAAGTCCTCTTCGTGACTTGGGGGTGTTTTTGTTGATAAGAATATTATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGA
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Task1_train_21723
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A variant was discovered on Chromosome 15, affecting CYP11A1 (cytochrome P450 family 11 subfamily A member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
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TCTGTAGAGGATGCCACGGTAATCGTGGTGAACACTTCCTTTCTGTCTCAATTCCCAGTAGAAGTTCTGGGTGTATATGTCAGCTGTGGGGAAGGAGGAAAGAAAAAAGAGTGAGGTTCCCTGCAGGCGGGTGGGAAGGAGGGCAGTCTGTGGTGAAAGGTGGCACCAAGGGCCTGGGGATTCCGGAGCCCTGTGCTTCTTAGGCTGCCGTTTTACTGAGCACGTACTCTGTACTAAGCCCTTCATATCTGTTTTTTCATCGAATTCTTGGGGTATGTGACATCATCCCCATTTTACAGATAACAGAGGTGCAGAGACATAGTCACTTGCCCAAGGTCACATGGCTGTAAGGGGCAGAGGTGGGATTTGACTCTGCCATACCCTGACGAGCCTTCTCCACCCAACCTTCCCCATCTCTCCCACCCAAGTCCCTGTCATCCAGCACAGCCGTGGCTCAGACACTGGTCCTTTGCCCTCTGGGGAGCATGAGCTCCTTTGAAGAAGATCACAGATGTCTTTGCTCCTCTTTTTCCAGAAAAATCTAATAATCCCCAACAGCCAGCCTTCCATCCGCCATTTCCAGGGGTCCCAGGGCCTTCCTGACACCCACGCCTGCCCGCCACAGTGTGGGTTTCCTACAGGTCAAGTCAGCGCCCATTGACATAGCGTGGGACAAAGGAGCCGGCTGAGGCCTGGGGCTCCGAGGAGGAGAGCACAGCCAGAGAAGCCCTCACCTTTACTGAAAATCACGTCCCATGCAGCCACATGGTCCTTCCAGGTCTTGGTCCTGAACAGACGGAACAGGTCTGGGGGAAGGTTGAGCATGGGGACGCTGGTGTGGAACATCTGGTAGATGGCATCAATGAATCGCTGGGCCTCGGGGTTCACTACTTCCTCCAGCATCCCCTGGCGCTCCCCAAAAATGACGTTAGTGATGGCTGCAGGGAGAGGAAGAGGCTGAGGAGCCATTTCTGACGGGGCCATCTGAGAGCCACAACTCCCAGGGACTCCTCCACCCTCACCTCCCTCAGCACAAAGGATCTCTTGCCCCTACCCTCAGCCTCCTTCAGTAAATAAATTGAGGCCTGAGTCCCAAAGGGCTAAGATGCAAGGCTGAGAAAGCTGACCTCTGGCAACCACACAGGTCCTGCAGAGGGGCATGTGGAGGACCTGAAAGGTGGGAAGCAGGGTCTCCAGCAGAGCTGAGAGAGGGCCTAGCCCAGGATGCAACTGCTCTGCCCAGGCTTCCACCAAGAGAGATTCCTCATCTGTAATTGGCTGAATTGGCTAAATACTTCCTGAAACAGGTCAGAAAGGAGACTGAGGGTCATAAATCCCTGGATAATTAACCATCCAGGACCTAGTCTTGCTGGACCTAAGAAGTTACAACAGCCTCAAGTTTTCCCCACCTACCAGGTGAGTAATTTGAATACTGATTTCATACAAAGCTCTGGGCACCCCAAATCTCTTGCTGTGACCACACAATCTTCATCAAGCCACAGGGCCTTTGTATGTGTGGTTCCCTCTACCTATACTGCCTGACTTCCTTACCCCATCTAGATAACTCCTACAGATTCCTCAATGCCTACCTCAGATTAACCACTGAACTCTCCTCTACCCTACCAGACTCCAAAGGTCTATGGCCCAGGAGGTGGAGACTTGCAGAATGAAGGTCCAAGCCAAGCTCTGGCTTTGGCGGATGGTGGCAATAGGGACCTGTACTTTGGGGACCCTTGCTCCTACAGCACAAATGCCAGATGAGAGAGAATGCCAGATGAGAGAACCCCAGAGCAAGGGGTCTCACTCTGTTGCCCAGGGTGGTCTTAAATTGCCTCTGAGTAGCAGGCAGTGGAGGACATGATCAGCGGCTCATCCCAGAAGTCAGTCTCAATGCCTCTGCAGGGTCTGTACTGAACCTCAAGGTAAGAGAGTGAACACTGAGTCCTCCCACCCCCATGCCCACTGCCAGCCAGGTGCAAGCCCCCTTACACTCAAAGGCAAAGCGGAACAGGTCATCACTGATGTCCCCCGAGTAATTTCCGGAGCCCGCCTTCTTGATGCGCCTGTGCAGGACACTGACGAAGTCCCGAGACACTGCATCCAACAGGGGCAAAAAGTTCTTGGTGGCCTCTGGAGCCATCACCTCCTGGTTCAGGGCCACCCGGTCTTTCTTCCAGGCTGCCGACTTCCTGAGAAAACATGGGCCCACAAGCCCTCATGGTCACAGACCCCAGGCCTGGTGAACACAGAGGGGGCTGACTCAGTTTTCCCAGGAAGCTGAGTCACAGCTCACAGCATCCAGCACTCCCACCAGGGCCTCTGCCCTCACCTCTCCGAGCACCCTCTGCCTCTCACCTCCTCCCTGCTCTGCCTGGCTGGGAGAAGAGAAAGGAAAAAAGAGAGTGAAGGGGAACAAAACTCCAACTCCCCTCCACTCCCTCTGCTGAGGGCCAGGAACTGATATTCTTAGAACCCTTTGTGTAACTTTCAGTCTCTCCAGTCTTTGCCTCAGCTGCAGGCATGCCTTCCATGCCACTCCCACTTCCTCCTGGCCGATGCTCACCTTTGACACTCCAGGGCCCCTCTATATAACATTTTCTGACTCTTGCACAAACAAAATTGACCAGCCTCTCCTCCTCTGCACCCCCAACACGTCCCATTACTCACTTCTGTCGGGGGACCTCAGGTGCCCCGAACTGGGTTGGTCATAATAAACCTTAATTCATGCACACTCTTGAAATTCATCAATCCATGCAAAGTCCTCTTCGTGACTTGGGGGTGTTTTTGTTGATAAGAATATTATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGATCTCCATTTATTCCCAAAAGGTACTATTACAAAATATATACTAGTGTTTAACTTCTTTTAAAAAGCTGTCGGTCAGACACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGACCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCATCTATAATCCCAGCTACGCCGGAGCTTGAGGCAATAGAATCACTTGAACCCGGGAGGCGGAGGTTGGAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGCTGTCATGCTTTGCCAGACTTGCTTTTTTCACTTAGTTGCACCGTTCCAAGTATCATCTGTATTGCTGTGGGAGACTGAGTCCCTTCATTTTGACTGGTGTGTACCACAATTCACTCACTTATAATCCTATTGGGCATTTCAGTAGCTTTCTGGTTTTTAATATCATGAACGGTACCACTGCAAACCTTCTACTACACATCCCCCAAAGCAGGGATACTCTTTGGAGTATATACCTGAAATCAAACTGCTATGTCACAGGTATGCAAATATTCCATTTTAGGAGAAAATGTCCAACCATTTTCCAAAGTAGTGGCTCCAGTTTACACTCCCACCAGTAACAGATGAGAGCCCCAGTTGCTCTGTAGCCTTACCCACACTTGATATGGTTACGTTTTACCTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGGATCCAGCTCTGTCACCCAGCCTGGAGTGCAGTGGTGCCATCTCTCGTCACAGCAACCTCTGCTTCCTAGGCTCAAGTAGTTCTCTGGCCTCAGCCTGCCAAGTAGCTGAGAACACAGGCATGTGCCACCACATCGGCTAATTTTTTATTTTTTATTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGGTGGTCTTGAACTCCTGAGCTCAAGCAATCTGTCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAATGCGCCCTGACCCTCATTTTACATTTTTGATGGGGTGGGTATGGTGGCTCATGCCT
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TCTGTAGAGGATGCCACGGTAATCGTGGTGAACACTTCCTTTCTGTCTCAATTCCCAGTAGAAGTTCTGGGTGTATATGTCAGCTGTGGGGAAGGAGGAAAGAAAAAAGAGTGAGGTTCCCTGCAGGCGGGTGGGAAGGAGGGCAGTCTGTGGTGAAAGGTGGCACCAAGGGCCTGGGGATTCCGGAGCCCTGTGCTTCTTAGGCTGCCGTTTTACTGAGCACGTACTCTGTACTAAGCCCTTCATATCTGTTTTTTCATCGAATTCTTGGGGTATGTGACATCATCCCCATTTTACAGATAACAGAGGTGCAGAGACATAGTCACTTGCCCAAGGTCACATGGCTGTAAGGGGCAGAGGTGGGATTTGACTCTGCCATACCCTGACGAGCCTTCTCCACCCAACCTTCCCCATCTCTCCCACCCAAGTCCCTGTCATCCAGCACAGCCGTGGCTCAGACACTGGTCCTTTGCCCTCTGGGGAGCATGAGCTCCTTTGAAGAAGATCACAGATGTCTTTGCTCCTCTTTTTCCAGAAAAATCTAATAATCCCCAACAGCCAGCCTTCCATCCGCCATTTCCAGGGGTCCCAGGGCCTTCCTGACACCCACGCCTGCCCGCCACAGTGTGGGTTTCCTACAGGTCAAGTCAGCGCCCATTGACATAGCGTGGGACAAAGGAGCCGGCTGAGGCCTGGGGCTCCGAGGAGGAGAGCACAGCCAGAGAAGCCCTCACCTTTACTGAAAATCACGTCCCATGCAGCCACATGGTCCTTCCAGGTCTTGGTCCTGAACAGACGGAACAGGTCTGGGGGAAGGTTGAGCATGGGGACGCTGGTGTGGAACATCTGGTAGATGGCATCAATGAATCGCTGGGCCTCGGGGTTCACTACTTCCTCCAGCATCCCCTGGCGCTCCCCAAAAATGACGTTAGTGATGGCTGCAGGGAGAGGAAGAGGCTGAGGAGCCATTTCTGACGGGGCCATCTGAGAGCCACAACTCCCAGGGACTCCTCCACCCTCACCTCCCTCAGCACAAAGGATCTCTTGCCCCTACCCTCAGCCTCCTTCAGTAAATAAATTGAGGCCTGAGTCCCAAAGGGCTAAGATGCAAGGCTGAGAAAGCTGACCTCTGGCAACCACACAGGTCCTGCAGAGGGGCATGTGGAGGACCTGAAAGGTGGGAAGCAGGGTCTCCAGCAGAGCTGAGAGAGGGCCTAGCCCAGGATGCAACTGCTCTGCCCAGGCTTCCACCAAGAGAGATTCCTCATCTGTAATTGGCTGAATTGGCTAAATACTTCCTGAAACAGGTCAGAAAGGAGACTGAGGGTCATAAATCCCTGGATAATTAACCATCCAGGACCTAGTCTTGCTGGACCTAAGAAGTTACAACAGCCTCAAGTTTTCCCCACCTACCAGGTGAGTAATTTGAATACTGATTTCATACAAAGCTCTGGGCACCCCAAATCTCTTGCTGTGACCACACAATCTTCATCAAGCCACAGGGCCTTTGTATGTGTGGTTCCCTCTACCTATACTGCCTGACTTCCTTACCCCATCTAGATAACTCCTACAGATTCCTCAATGCCTACCTCAGATTAACCACTGAACTCTCCTCTACCCTACCAGACTCCAAAGGTCTATGGCCCAGGAGGTGGAGACTTGCAGAATGAAGGTCCAAGCCAAGCTCTGGCTTTGGCGGATGGTGGCAATAGGGACCTGTACTTTGGGGACCCTTGCTCCTACAGCACAAATGCCAGATGAGAGAGAATGCCAGATGAGAGAACCCCAGAGCAAGGGGTCTCACTCTGTTGCCCAGGGTGGTCTTAAATTGCCTCTGAGTAGCAGGCAGTGGAGGACATGATCAGCGGCTCATCCCAGAAGTCAGTCTCAATGCCTCTGCAGGGTCTGTACTGAACCTCAAGGTAAGAGAGTGAACACTGAGTCCTCCCACCCCCATGCCCACTGCCAGCCAGGTGCAAGCCCCCTTACACTCAAAGGCAAAGCGGAACAGGTCATCACTGATGTCCCCCGAGTAATTTCCGGAGCCCACCTTCTTGATGCGCCTGTGCAGGACACTGACGAAGTCCCGAGACACTGCATCCAACAGGGGCAAAAAGTTCTTGGTGGCCTCTGGAGCCATCACCTCCTGGTTCAGGGCCACCCGGTCTTTCTTCCAGGCTGCCGACTTCCTGAGAAAACATGGGCCCACAAGCCCTCATGGTCACAGACCCCAGGCCTGGTGAACACAGAGGGGGCTGACTCAGTTTTCCCAGGAAGCTGAGTCACAGCTCACAGCATCCAGCACTCCCACCAGGGCCTCTGCCCTCACCTCTCCGAGCACCCTCTGCCTCTCACCTCCTCCCTGCTCTGCCTGGCTGGGAGAAGAGAAAGGAAAAAAGAGAGTGAAGGGGAACAAAACTCCAACTCCCCTCCACTCCCTCTGCTGAGGGCCAGGAACTGATATTCTTAGAACCCTTTGTGTAACTTTCAGTCTCTCCAGTCTTTGCCTCAGCTGCAGGCATGCCTTCCATGCCACTCCCACTTCCTCCTGGCCGATGCTCACCTTTGACACTCCAGGGCCCCTCTATATAACATTTTCTGACTCTTGCACAAACAAAATTGACCAGCCTCTCCTCCTCTGCACCCCCAACACGTCCCATTACTCACTTCTGTCGGGGGACCTCAGGTGCCCCGAACTGGGTTGGTCATAATAAACCTTAATTCATGCACACTCTTGAAATTCATCAATCCATGCAAAGTCCTCTTCGTGACTTGGGGGTGTTTTTGTTGATAAGAATATTATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGATCTCCATTTATTCCCAAAAGGTACTATTACAAAATATATACTAGTGTTTAACTTCTTTTAAAAAGCTGTCGGTCAGACACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGACCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCATCTATAATCCCAGCTACGCCGGAGCTTGAGGCAATAGAATCACTTGAACCCGGGAGGCGGAGGTTGGAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGCTGTCATGCTTTGCCAGACTTGCTTTTTTCACTTAGTTGCACCGTTCCAAGTATCATCTGTATTGCTGTGGGAGACTGAGTCCCTTCATTTTGACTGGTGTGTACCACAATTCACTCACTTATAATCCTATTGGGCATTTCAGTAGCTTTCTGGTTTTTAATATCATGAACGGTACCACTGCAAACCTTCTACTACACATCCCCCAAAGCAGGGATACTCTTTGGAGTATATACCTGAAATCAAACTGCTATGTCACAGGTATGCAAATATTCCATTTTAGGAGAAAATGTCCAACCATTTTCCAAAGTAGTGGCTCCAGTTTACACTCCCACCAGTAACAGATGAGAGCCCCAGTTGCTCTGTAGCCTTACCCACACTTGATATGGTTACGTTTTACCTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGGATCCAGCTCTGTCACCCAGCCTGGAGTGCAGTGGTGCCATCTCTCGTCACAGCAACCTCTGCTTCCTAGGCTCAAGTAGTTCTCTGGCCTCAGCCTGCCAAGTAGCTGAGAACACAGGCATGTGCCACCACATCGGCTAATTTTTTATTTTTTATTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGGTGGTCTTGAACTCCTGAGCTCAAGCAATCTGTCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAATGCGCCCTGACCCTCATTTTACATTTTTGATGGGGTGGGTATGGTGGCTCATGCCT
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Task1_train_21724
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This variant affects the gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
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TATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGATCTCCATTTATTCCCAAAAGGTACTATTACAAAATATATACTAGTGTTTAACTTCTTTTAAAAAGCTGTCGGTCAGACACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGACCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCATCTATAATCCCAGCTACGCCGGAGCTTGAGGCAATAGAATCACTTGAACCCGGGAGGCGGAGGTTGGAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGCTGTCATGCTTTGCCAGACTTGCTTTTTTCACTTAGTTGCACCGTTCCAAGTATCATCTGTATTGCTGTGGGAGACTGAGTCCCTTCATTTTGACTGGTGTGTACCACAATTCACTCACTTATAATCCTATTGGGCATTTCAGTAGCTTTCTGGTTTTTAATATCATGAACGGTACCACTGCAAACCTTCTACTACACATCCCCCAAAGCAGGGATACTCTTTGGAGTATATACCTGAAATCAAACTGCTATGTCACAGGTATGCAAATATTCCATTTTAGGAGAAAATGTCCAACCATTTTCCAAAGTAGTGGCTCCAGTTTACACTCCCACCAGTAACAGATGAGAGCCCCAGTTGCTCTGTAGCCTTACCCACACTTGATATGGTTACGTTTTACCTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGGATCCAGCTCTGTCACCCAGCCTGGAGTGCAGTGGTGCCATCTCTCGTCACAGCAACCTCTGCTTCCTAGGCTCAAGTAGTTCTCTGGCCTCAGCCTGCCAAGTAGCTGAGAACACAGGCATGTGCCACCACATCGGCTAATTTTTTATTTTTTATTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGGTGGTCTTGAACTCCTGAGCTCAAGCAATCTGTCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAATGCGCCCTGACCCTCATTTTACATTTTTGATGGGGTGGGTATGGTGGCTCATGCCTATAATCCTAGCACTTTGGAAGGCTGAAGCGGGAAGATTGCTTGAGCCCAGGGGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTCATCTATACTAAAAATGTAAAAATTGGCTGGGTGTGGTGACACGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGTGCCGGGGGGCAGAGGCTGCTGTGAGCCATGATCAAACCACTGCACTCCAGCCTGGATGACACAATGAGATCCCATCTCAAAATAAAAAAAAATTTATGAACAATTTCGTAGAAAACAGTATCCACTACACTTAAATACACTGATCTGTCCCCATGTAGGACAAATGTCTCACTGCCCCTTTAGCCTGTATGGGACTCACGGTGGCAGGTCCCTGCTCTATTTGTCACTGTATCTCCAGTTCCTGGCACAAGTCCTGATTCATCAAGGATGCTCAGTAAGGTGGGACTCAGTGAGCAAACCAGTCAGTGAGAACTTTGCCAGATCTTTAATTATTCATTAGGATCTTCAGCATGGCCATTTCCCTGAAGGCTGGCAGAGCAATTCATCATCATCATCATCATCATCACCATCATTTGTTTTAGGGAGGCAGGAAAATGACGGGGATTCACCTAGAGGCCCTGCTAGGAGGCACAGGGCAAGCCTGGCCTCAGCCCCTCACCCCCAGCCTCTGCCCTCTCCACAGCTCCCCACCACCTCCCTCCAGTCCCTGGGAGATGGCCCAGGACTCACTTCAACAGGACTCCTATGGGTCTCTGGTAATACTGGTGATAGGCGACCCAGGGCGGGATGAGGAATCGTTCTGGGTTGGGGCCCTCGGACTTAAAGAGAAGGGCCACATCTTCAGGGTCGATGACATAAACCGACTCCACGTTGCCGAGCTTCTCCCTGGAGGGGTGGGGGAGAGGGGCTGATGGAAGGATCCGAGGAGAGCTATGGATACAGGCTCAGCACAGCTGCCTCACAGTTCCACAACTTGCTGACTGTGGGACCTGAGTCGAGGCCCTTAACCCCTCTGAGTCTCAGTTTCCTCTTCTGTAAAATGGAGACAAATACAGTACCTGTCTCGCAGCGCTGCTGAAGGACAAGACAATAGGAAGTATATGGATGTGACCTTTGTTAAACATTCTACAAGTGAGAGCTTTATGATCACTGTTGCTGCTGTCCCACAGCACATCCCCAGGGCCAGCCCAAAGCCACCCCCGAGCCTTCCATGGACCAGCAAGTCCTCCACTCCTTGCGCATTCTTCCTGTGTCCACACCTACAGCAGCCCCAGCTTCTCACCTGTCCACAGAGCTCAGAACCATGGCACACTTTCATGTCACTGCTAGAGTGACTCACTATAGCTTGCAAGGTAGGCCATATTCCAGGCCAAATCCCTGTCAGACTCTACAACTGAAATTCTGAGAGTGGCCACCCTGACCCTAAGAGTCAGAGGCCACCCAACAACACGCTTTGTCTCTATTAAAATAAAACTTCAGTAAAACATCAAGCCCCAACATACAGGCAGGGGAGACAGGCTTGCAAATCACTTTGCAGACAATCTGTATTAAATACAACTGGGTTTTTGTTGTTATTGTTGTTTTGAGACAGGGTCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGCCCTGACCTCCCAGGCTCAAGCGACCCTCTCACCTCAGCCCGGCCAAGTACCTGGGACTACAGGCACCACCATGCTTAATTTTTGTGTTTTTTGTAGAGATGAGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAGAGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATGGCAGGTTTGAGCCAATGTGCCTACCCACATACAACTGTTACATATGACTGGTGTTCTTACATGAAGAGATGAGGACACGGATACACAAAGAGGAAGGACCATGTCAACACACGGGGAAAAGATAGCATCTAACTCCAAGGAGAGAGGCCTCAGAAGAAAGCAAGCAACTCAGCCAAAACCTTGATCTCTGACTTCTAGTTTCCAGAACTGCCAGAAAATTAATTCTGTTGTTTAAGCAAAAAATAAGAAATAAAAATACAACTACTAAAAAACAACAGAAAATTCCACTTCTTGCTAGCCTCTGCCTTTTATCGAAGAAAATTAAGATACACTTTTAGGCAAAATAGCATAAAAACATGGAGATACAAGCCAAGTGTGCTCATGTGTGTGCATGTTCTCTCTCTCTCTCCTCTCATAGTGCTGCTTTAACCACTGAGCCAGAAAGCCTGGGCCTACCTTGATGAGTTTCAGGCCTTCACTTGTTCTGTGGCCTCCCAGAAAATCCCCTCAGTGTTTTTCCAGCTACCATGTGTCTTTGCACTAACTAGCTCCATACCCCTAACCAAGTTCAGCCAAGCCCTTGAACTGCTATTATCATGATCAATTCCACTTCTGGGAATCTAGCCCAAGGCAATGATCTGACATCAGCAACAATGCTTGATGGATAAGGATGTCCATTGCAGCCTCATGTCTAACAGCAAAAAAGTCAAGAGTAGGTTGTATGTTCACTTTAAAGAACCCGCGAAAAAAAAAATCCATACTGTGAACTACTATGCTGCCTTTTAAAATTATATTAGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGAGGGAGAGGGAGGATCACTTGCGCCCAGGAATTCAAGGCTACAGTGAGCCTATGATGGCACCACTGCACTCCACCCTGGGAGACAGAGCAAGACCCTGTTT
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TATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGATCTCCATTTATTCCCAAAAGGTACTATTACAAAATATATACTAGTGTTTAACTTCTTTTAAAAAGCTGTCGGTCAGACACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGACCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCATCTATAATCCCAGCTACGCCGGAGCTTGAGGCAATAGAATCACTTGAACCCGGGAGGCGGAGGTTGGAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGCTGTCATGCTTTGCCAGACTTGCTTTTTTCACTTAGTTGCACCGTTCCAAGTATCATCTGTATTGCTGTGGGAGACTGAGTCCCTTCATTTTGACTGGTGTGTACCACAATTCACTCACTTATAATCCTATTGGGCATTTCAGTAGCTTTCTGGTTTTTAATATCATGAACGGTACCACTGCAAACCTTCTACTACACATCCCCCAAAGCAGGGATACTCTTTGGAGTATATACCTGAAATCAAACTGCTATGTCACAGGTATGCAAATATTCCATTTTAGGAGAAAATGTCCAACCATTTTCCAAAGTAGTGGCTCCAGTTTACACTCCCACCAGTAACAGATGAGAGCCCCAGTTGCTCTGTAGCCTTACCCACACTTGATATGGTTACGTTTTACCTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGGATCCAGCTCTGTCACCCAGCCTGGAGTGCAGTGGTGCCATCTCTCGTCACAGCAACCTCTGCTTCCTAGGCTCAAGTAGTTCTCTGGCCTCAGCCTGCCAAGTAGCTGAGAACACAGGCATGTGCCACCACATCGGCTAATTTTTTATTTTTTATTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGGTGGTCTTGAACTCCTGAGCTCAAGCAATCTGTCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAATGCGCCCTGACCCTCATTTTACATTTTTGATGGGGTGGGTATGGTGGCTCATGCCTATAATCCTAGCACTTTGGAAGGCTGAAGCGGGAAGATTGCTTGAGCCCAGGGGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTCATCTATACTAAAAATGTAAAAATTGGCTGGGTGTGGTGACACGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGTGCCGGGGGGCAGAGGCTGCTGTGAGCCATGATCAAACCACTGCACTCCAGCCTGGATGACACAATGAGATCCCATCTCAAAATAAAAAAAAATTTATGAACAATTTCGTAGAAAACAGTATCCACTACACTTAAATACACTGATCTGTCCCCATGTAGGACAAATGTCTCACTGCCCCTTTAGCCTGTATGGGACTCACGGTGGCAGGTCCCTGCTCTATTTGTCACTGTATCTCCAGTTCCTGGCACAAGTCCTGATTCATCAAGGATGCTCAGTAAGGTGGGACTCAGTGAGCAAACCAGTCAGTGAGAACTTTGCCAGATCTTTAATTATTCATTAGGATCTTCAGCATGGCCATTTCCCTGAAGGCTGGCAGAGCAATTCATCATCATCATCATCATCATCACCATCATTTGTTTTAGGGAGGCAGGAAAATGACGGGGATTCACCTAGAGGCCCTGCTAGGAGGCACAGGGCAAGCCTGGCCTCAGCCCCTCACCCCCAGCCTCTGCCCTCTCCACAGCTCCCCACCACCTCCCTCCAGTCCCTGGGAGATGGCCCAGGACTCACTTCCACAGGACTCCTATGGGTCTCTGGTAATACTGGTGATAGGCGACCCAGGGCGGGATGAGGAATCGTTCTGGGTTGGGGCCCTCGGACTTAAAGAGAAGGGCCACATCTTCAGGGTCGATGACATAAACCGACTCCACGTTGCCGAGCTTCTCCCTGGAGGGGTGGGGGAGAGGGGCTGATGGAAGGATCCGAGGAGAGCTATGGATACAGGCTCAGCACAGCTGCCTCACAGTTCCACAACTTGCTGACTGTGGGACCTGAGTCGAGGCCCTTAACCCCTCTGAGTCTCAGTTTCCTCTTCTGTAAAATGGAGACAAATACAGTACCTGTCTCGCAGCGCTGCTGAAGGACAAGACAATAGGAAGTATATGGATGTGACCTTTGTTAAACATTCTACAAGTGAGAGCTTTATGATCACTGTTGCTGCTGTCCCACAGCACATCCCCAGGGCCAGCCCAAAGCCACCCCCGAGCCTTCCATGGACCAGCAAGTCCTCCACTCCTTGCGCATTCTTCCTGTGTCCACACCTACAGCAGCCCCAGCTTCTCACCTGTCCACAGAGCTCAGAACCATGGCACACTTTCATGTCACTGCTAGAGTGACTCACTATAGCTTGCAAGGTAGGCCATATTCCAGGCCAAATCCCTGTCAGACTCTACAACTGAAATTCTGAGAGTGGCCACCCTGACCCTAAGAGTCAGAGGCCACCCAACAACACGCTTTGTCTCTATTAAAATAAAACTTCAGTAAAACATCAAGCCCCAACATACAGGCAGGGGAGACAGGCTTGCAAATCACTTTGCAGACAATCTGTATTAAATACAACTGGGTTTTTGTTGTTATTGTTGTTTTGAGACAGGGTCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGCCCTGACCTCCCAGGCTCAAGCGACCCTCTCACCTCAGCCCGGCCAAGTACCTGGGACTACAGGCACCACCATGCTTAATTTTTGTGTTTTTTGTAGAGATGAGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAGAGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATGGCAGGTTTGAGCCAATGTGCCTACCCACATACAACTGTTACATATGACTGGTGTTCTTACATGAAGAGATGAGGACACGGATACACAAAGAGGAAGGACCATGTCAACACACGGGGAAAAGATAGCATCTAACTCCAAGGAGAGAGGCCTCAGAAGAAAGCAAGCAACTCAGCCAAAACCTTGATCTCTGACTTCTAGTTTCCAGAACTGCCAGAAAATTAATTCTGTTGTTTAAGCAAAAAATAAGAAATAAAAATACAACTACTAAAAAACAACAGAAAATTCCACTTCTTGCTAGCCTCTGCCTTTTATCGAAGAAAATTAAGATACACTTTTAGGCAAAATAGCATAAAAACATGGAGATACAAGCCAAGTGTGCTCATGTGTGTGCATGTTCTCTCTCTCTCTCCTCTCATAGTGCTGCTTTAACCACTGAGCCAGAAAGCCTGGGCCTACCTTGATGAGTTTCAGGCCTTCACTTGTTCTGTGGCCTCCCAGAAAATCCCCTCAGTGTTTTTCCAGCTACCATGTGTCTTTGCACTAACTAGCTCCATACCCCTAACCAAGTTCAGCCAAGCCCTTGAACTGCTATTATCATGATCAATTCCACTTCTGGGAATCTAGCCCAAGGCAATGATCTGACATCAGCAACAATGCTTGATGGATAAGGATGTCCATTGCAGCCTCATGTCTAACAGCAAAAAAGTCAAGAGTAGGTTGTATGTTCACTTTAAAGAACCCGCGAAAAAAAAAATCCATACTGTGAACTACTATGCTGCCTTTTAAAATTATATTAGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGAGGGAGAGGGAGGATCACTTGCGCCCAGGAATTCAAGGCTACAGTGAGCCTATGATGGCACCACTGCACTCCACCCTGGGAGACAGAGCAAGACCCTGTTT
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Task1_train_21725
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This variant lies on Chromosome 15 and affects the gene SEMA7A (semaphorin 7A (JohnMiltonHagen blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Cholestasis, progressive familial intrahepatic, 11
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GGGTCAGGGAGCAGGAAGACGTCTTGCAGCCTGTTGAAGTTCTTGTTGGTGGCAGCATCACTGCATACCAGCATGGCTTTCAGAAAAGTGTTCCACTTGGAGACTGACAGTGAACTTTCCCCACCCTGGTCCCCCTGGAAGGGTAGAGGGGAGAAGAGGCCCCTCAGCACCTGCCCGGGCTTCCCCACACACCCCAGGAAACCACTGCCAGCAATATCAACACCTGGGCCCAGAGGAGGAAGGCAGGCTGTGAGGGGCCAGGACCTGCCGGGGGTGCCCCAGGACTCAGGGCAGGTCTCCAGATGAGACTCCAGCAAGCAGGCCTGGCTGATCCAGAGCCCAGGGCCAGCAGTGCCCAGGGTCAGGGCAGGTGAGAGTGCCAGGTCCCCACAGAGCAGACGGACTCAGACACACATTTACTGACTCACACACCCACACACGTGGCACAGCACATTCACACAGGCAAAACACACACACACACACACACACACCCCATCATACACACGCTCACACGCCATCATACGTGCACAGGAGCTCAGCCACCTTTACCCACACACAGACACATGATGCTCCATGCACACACAGCTGCTCCCACAGTCCCTGACACAGACCCACTCATACATCCACACAACTTCTACATGCACACGGACACACAGAACTCACCCTCACTCAGGCCTATTCATGCACAGACACGTAGCCAGCAGCCCTCACGCCCCTGCTCACCCTGCACAACTGGGCCACACGGGACACATTGAGAGGAGCCTCAGGATTCTTGTCAGGATTGTCCTCTCGGAAGAAGTAGTAGATCTTGTCATCGTAAGCCTGGTCTTGGTGCACGATGGTGGCTTTGATGAACTGTGGGTCTGCCAGGGACAGAGGCGAGTGGGCGTAAGGCTGGGAAGCTTGCCCGGGAGACCATCCCAACCCTGCACACTCTCCTCCCTCCTTCGGGTCTGCACAAACCATGGCAAATCAGATCTGGAATAGGACTCAGAACATCAGGTCCAACTCCCCGAGGGGCCCTAGACCCTGCACCTCCACCCCACACCTGTTTTGCCCTCTTCCTACAAAGATGTCATCGGCCCAGGAGCAATGACTTCATGCCTGGGGACTGGGGGAAGGTCCCTGGGGGCCCCTATGTCACTTCTGCTCAATTGGCAGAGCCCTGATGAGGAGGGAGTTGGGGGCTGCCTCCACGTGAACTCAGCAGAGGATAAACTTTGGCTCCTGGGGACCCTGCACTGGGTCTGGGGCTCCCTCTGTTTGTGTTCCTGAAGAGGGCTGGGCCCATCCCACTGCTATACCTTGTCTGTTCCTCTGCTCCCAGCCAACCCTAACTTCTCAGGCCTATACCAAGGTCCTGCTTTCCTGCATGGCCCCAGCGGCCCTCAGGGAGCCCTCCCAGAAACATCAGGATCCCATCTGCCACCTTAAGTGCTCACACCCCCTTGCCCACCCTCAGCCCAGCCGGAGCCTGACTCACTCTGCATGACAGTATCACTGGTGTACAGCTCACTCTCGCCCCGGATGCGGCGGAACCGAGGGATCTTCCCATTGTATTCCTGCTTCCGGATGGTGGAATACACCTCGTCCCCTGGGGTCAGTGGGAGGGAGAAATGAGTAAGGGCAGGCAGCTCCTGGAAGTCCCTCCTCCGGACACTGGACAAAGAGCTGACCACTCCTCTCCCAGCCCAGTTCAGAAGCATCCCCCTGGGGCGCCTGCTCCAGCACTGCCCTACCTTCAAACAGAACCAGGGAGTTCTCGTCCGGGCTGAAGGGGGCGTAGCCTCTCATCTCGCCAAGTGGCACCACAGTGCCATTCACCTGTGGGAGATCCAGAGGGTTGGATGGCCACATAATCCCACAGCCACTGCCTCCCATGACGGCCAGTTTCTCGGCCAGGAGCCCCATCCTCCCAGGGCAAGGCCAGCATTGGAGTCTCGCCATCTCCTTCCCACCATGAGGGGCAGAAGCCCACGCAGTAGAAGGTGAGCTGATCAGGCACATGGGGAGCAGCCTTCTCACCAGGTTCCAGCAGCTGGGGTGCCGGGCGTTGGTGCCACAGGCCAGCAGCCCCTCACTCCGCCTCTCCAGGAGAGTGATGTAGTTCTCGCAGTCCTGCCCGGGGAAGAGAGAAGGGAGGAGAGAAATTGGTTGCTGGAAGGCCCTGGCAAGCCTAGCACTAGGACCCCCAGGATCAGGGAAGAAGGTGTCAGAAGGGCTTAGCATAGGTGACAGCCTCCCGGGACAGCCCAGAGTGTGTGCAGCTGACGCCATCCCCTAAGCACAGAGGACCACGTCTCCCCATCAGTCTGGGACTCGTGGGGCAGGGCCATGCTTCCTTCCTTAGACCCTCAGGGTCTCCTCTCCCTTTACCAAGTGGCTCAGACCCCTCCATACCCCCTCCCCCACTCACCCGCTTATCCAGACAGGACCCCTTTGTGGAGCCGATATTCACCTGGGGGAAGGGGAGAAGCATTAGTTCAATCTGCCAGGGGTGAGGTACCCCTGAAATGCTTTCCACACAGCCTCAGGATAAGCCCCAAAGGAAGCAACCATTATTCTCATCTGACAGATGAGCAACTGGGGCTCTGAGAGGGTGAGTGATCTACCTGAGGTCAAACAGGGTCTCATATCCAGAGCTGAGGCCCAGAGGGTTCAGAAGACCAGGCATGGGCTCTGGGGCCCAGCTTCCAGCCTGGGCTTTCCGCAGCAGCGCTGCCCAGCTGGCCAGGCCCATTAGCTCCTGTTTTTCTCCACACCGCCCCAGCTCCCCACTCCAATCTGGACTACCTTTAGGGAGCCTCCCCCAGGAGCCATTTATAGGATACGGAGGTGGGGGCAGTTTAGGAAGAGAAGCCAGCTCCCTCGGATTCCCTGAGGACCCTTGGCAGGGCCAGAGGGGAGATAAGAGGGTAGGGGGGGTGTTGGGGGAAGAGAGAGGCTCACCGTGCGCACAGATGCGTTCTTGCCCTCGGGGAAGTCAAAGAGGTAGACCTTGCCACGTCCTCCCACCCACACAGAGGAGCTGCCTGGCTCGTGGAAAAGCACCGTGTGCGGCTCAGTCTGGCCAAAGTCCACCCGGTCCTGCCCTACATGGCCTGAGGAGGAGACAATTAGTAGAAACATTGAAGCCAGGTCCCGAGAGAGAAGACTCTGGGTCCCCTCCACATGGCACACTGGAACCAGTGCTTGGTGCTCAGGGTCCTGGCAGGGCGTCAGACAAGCTCTGGGCTGGGGTGGTACCCAGACTCAGAGAGTCAAGGACAGGAGAAGTAAGAGATCCTCCGGTGGGCTCCAGCAACCAGCTGTCCTCACCCACAGCACGGCCCCTCCCCTAGTGTGGCAGCCTCTCCTTCCTTCACAGTATGTGTGATCTCAGAGTGGGGAAGGATTTAGGGACCTCTTGGGGGAACAGACCCCCTCCTCTGGCACACACTTTTGAGGGCTGGGCTAAGGCAGGAGGACCAGGGCTCCTTGGCCATGCTCTGGGAGGTTCTCTGCTGCCCTAAGCCAAAGCAAGCAGCGCCCCCCAACCCCGGGCCTTTCAGCAGGCAGCAGGGCCTTCAAGCACCCCCCTTGGAGTCCAGGTTCCCAGGAATCACAATGCTCAGAACCCCTTCTCCTCCTTCAGGAATCCCTCTCCAACCTCTCCTGGCCCATCCCCAGCCCCTTAGTGAGCACTAGACTAGAGGAGGAAAGGAATCTCAACATCTACTCCGTCCCATTTCACAGATGGGAAAACAGAGGCCAAGGGAGGGGCAGCCCAAGGGCACACGGAAGCAGGTCAGTAGCAGACCCTGAACCAGAGCCTGCACTCCTGCCTACCAAGCTGGACTCTATTCCATGGCCCACTCTGGCCTGGTTTCACCCATGAGGATGCTAGCTCTCCGGGGGGTGAAGATCGGCTCTTCCTCCCCAGCAACTCTGGGACAGGGGAACCTTCACAGAGCACAGCCTGGGACTTTCAGCAGAAGGGCTGACCGGGAAAATTTTCCCCAAAAAAGAAACTGACTGCAGCCACTGCCTCTGGGGAGGTGTCTCATCTCCAGTGACACTGCTGAGGTTGTCCTGGTTGCAGGAGTAAATTATAGGG
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GGGTCAGGGAGCAGGAAGACGTCTTGCAGCCTGTTGAAGTTCTTGTTGGTGGCAGCATCACTGCATACCAGCATGGCTTTCAGAAAAGTGTTCCACTTGGAGACTGACAGTGAACTTTCCCCACCCTGGTCCCCCTGGAAGGGTAGAGGGGAGAAGAGGCCCCTCAGCACCTGCCCGGGCTTCCCCACACACCCCAGGAAACCACTGCCAGCAATATCAACACCTGGGCCCAGAGGAGGAAGGCAGGCTGTGAGGGGCCAGGACCTGCCGGGGGTGCCCCAGGACTCAGGGCAGGTCTCCAGATGAGACTCCAGCAAGCAGGCCTGGCTGATCCAGAGCCCAGGGCCAGCAGTGCCCAGGGTCAGGGCAGGTGAGAGTGCCAGGTCCCCACAGAGCAGACGGACTCAGACACACATTTACTGACTCACACACCCACACACGTGGCACAGCACATTCACACAGGCAAAACACACACACACACACACACACACCCCATCATACACACGCTCACACGCCATCATACGTGCACAGGAGCTCAGCCACCTTTACCCACACACAGACACATGATGCTCCATGCACACACAGCTGCTCCCACAGTCCCTGACACAGACCCACTCATACATCCACACAACTTCTACATGCACACGGACACACAGAACTCACCCTCACTCAGGCCTATTCATGCACAGACACGTAGCCAGCAGCCCTCACGCCCCTGCTCACCCTGCACAACTGGGCCACACGGGACACATTGAGAGGAGCCTCAGGATTCTTGTCAGGATTGTCCTCTCGGAAGAAGTAGTAGATCTTGTCATCGTAAGCCTGGTCTTGGTGCACGATGGTGGCTTTGATGAACTGTGGGTCTGCCAGGGACAGAGGCGAGTGGGCGTAAGGCTGGGAAGCTTGCCCGGGAGACCATCCCAACCCTGCACACTCTCCTCCCTCCTTCGGGTCTGCACAAACCATGGCAAATCAGATCTGGAATAGGACTCAGAACATCAGGTCCAACTCCCCGAGGGGCCCTAGACCCTGCACCTCCACCCCACACCTGTTTTGCCCTCTTCCTACAAAGATGTCATCGGCCCAGGAGCAATGACTTCATGCCTGGGGACTGGGGGAAGGTCCCTGGGGGCCCCTATGTCACTTCTGCTCAATTGGCAGAGCCCTGATGAGGAGGGAGTTGGGGGCTGCCTCCACGTGAACTCAGCAGAGGATAAACTTTGGCTCCTGGGGACCCTGCACTGGGTCTGGGGCTCCCTCTGTTTGTGTTCCTGAAGAGGGCTGGGCCCATCCCACTGCTATACCTTGTCTGTTCCTCTGCTCCCAGCCAACCCTAACTTCTCAGGCCTATACCAAGGTCCTGCTTTCCTGCATGGCCCCAGCGGCCCTCAGGGAGCCCTCCCAGAAACATCAGGATCCCATCTGCCACCTTAAGTGCTCACACCCCCTTGCCCACCCTCAGCCCAGCCGGAGCCTGACTCACTCTGCATGACAGTATCACTGGTGTACAGCTCACTCTCGCCCCGGATGCGGCGGAACCGAGGGATCTTCCCATTGTATTCCTGCTTCCGGATGGTGGAATACACCTCGTCCCCTGGGGTCAGTGGGAGGGAGAAATGAGTAAGGGCAGGCAGCTCCTGGAAGTCCCTCCTCCGGACACTGGACAAAGAGCTGACCACTCCTCTCCCAGCCCAGTTCAGAAGCATCCCCCTGGGGCGCCTGCTCCAGCACTGCCCTACCTTCAAACAGAACCAGGGAGTTCTCGTCCGGGCTGAAGGGGGCGTAGCCTCTCATCTCGCCAAGTGGCACCACAGTGCCATTCACCTGTGGGAGATCCAGAGGGTTGGATGGCCACATAATCCCACAGCCACTGCCTCCCATGACGGCCAGTTTCTCGGCCAGGAGCCCCATCCTCCCAGGGCAAGGCCAGCATTGGAGTCTCGCCATCTCCTTCCCACCATGAGGGGCAGAAGCCCACGCAGTAGAAGGTGAGCTGATCAGGCACATGGGGAGCAGCCTTCTCACCAGGTTCCAGCAGCTGGGGTGCCAGGCGTTGGTGCCACAGGCCAGCAGCCCCTCACTCCGCCTCTCCAGGAGAGTGATGTAGTTCTCGCAGTCCTGCCCGGGGAAGAGAGAAGGGAGGAGAGAAATTGGTTGCTGGAAGGCCCTGGCAAGCCTAGCACTAGGACCCCCAGGATCAGGGAAGAAGGTGTCAGAAGGGCTTAGCATAGGTGACAGCCTCCCGGGACAGCCCAGAGTGTGTGCAGCTGACGCCATCCCCTAAGCACAGAGGACCACGTCTCCCCATCAGTCTGGGACTCGTGGGGCAGGGCCATGCTTCCTTCCTTAGACCCTCAGGGTCTCCTCTCCCTTTACCAAGTGGCTCAGACCCCTCCATACCCCCTCCCCCACTCACCCGCTTATCCAGACAGGACCCCTTTGTGGAGCCGATATTCACCTGGGGGAAGGGGAGAAGCATTAGTTCAATCTGCCAGGGGTGAGGTACCCCTGAAATGCTTTCCACACAGCCTCAGGATAAGCCCCAAAGGAAGCAACCATTATTCTCATCTGACAGATGAGCAACTGGGGCTCTGAGAGGGTGAGTGATCTACCTGAGGTCAAACAGGGTCTCATATCCAGAGCTGAGGCCCAGAGGGTTCAGAAGACCAGGCATGGGCTCTGGGGCCCAGCTTCCAGCCTGGGCTTTCCGCAGCAGCGCTGCCCAGCTGGCCAGGCCCATTAGCTCCTGTTTTTCTCCACACCGCCCCAGCTCCCCACTCCAATCTGGACTACCTTTAGGGAGCCTCCCCCAGGAGCCATTTATAGGATACGGAGGTGGGGGCAGTTTAGGAAGAGAAGCCAGCTCCCTCGGATTCCCTGAGGACCCTTGGCAGGGCCAGAGGGGAGATAAGAGGGTAGGGGGGGTGTTGGGGGAAGAGAGAGGCTCACCGTGCGCACAGATGCGTTCTTGCCCTCGGGGAAGTCAAAGAGGTAGACCTTGCCACGTCCTCCCACCCACACAGAGGAGCTGCCTGGCTCGTGGAAAAGCACCGTGTGCGGCTCAGTCTGGCCAAAGTCCACCCGGTCCTGCCCTACATGGCCTGAGGAGGAGACAATTAGTAGAAACATTGAAGCCAGGTCCCGAGAGAGAAGACTCTGGGTCCCCTCCACATGGCACACTGGAACCAGTGCTTGGTGCTCAGGGTCCTGGCAGGGCGTCAGACAAGCTCTGGGCTGGGGTGGTACCCAGACTCAGAGAGTCAAGGACAGGAGAAGTAAGAGATCCTCCGGTGGGCTCCAGCAACCAGCTGTCCTCACCCACAGCACGGCCCCTCCCCTAGTGTGGCAGCCTCTCCTTCCTTCACAGTATGTGTGATCTCAGAGTGGGGAAGGATTTAGGGACCTCTTGGGGGAACAGACCCCCTCCTCTGGCACACACTTTTGAGGGCTGGGCTAAGGCAGGAGGACCAGGGCTCCTTGGCCATGCTCTGGGAGGTTCTCTGCTGCCCTAAGCCAAAGCAAGCAGCGCCCCCCAACCCCGGGCCTTTCAGCAGGCAGCAGGGCCTTCAAGCACCCCCCTTGGAGTCCAGGTTCCCAGGAATCACAATGCTCAGAACCCCTTCTCCTCCTTCAGGAATCCCTCTCCAACCTCTCCTGGCCCATCCCCAGCCCCTTAGTGAGCACTAGACTAGAGGAGGAAAGGAATCTCAACATCTACTCCGTCCCATTTCACAGATGGGAAAACAGAGGCCAAGGGAGGGGCAGCCCAAGGGCACACGGAAGCAGGTCAGTAGCAGACCCTGAACCAGAGCCTGCACTCCTGCCTACCAAGCTGGACTCTATTCCATGGCCCACTCTGGCCTGGTTTCACCCATGAGGATGCTAGCTCTCCGGGGGGTGAAGATCGGCTCTTCCTCCCCAGCAACTCTGGGACAGGGGAACCTTCACAGAGCACAGCCTGGGACTTTCAGCAGAAGGGCTGACCGGGAAAATTTTCCCCAAAAAAGAAACTGACTGCAGCCACTGCCTCTGGGGAGGTGTCTCATCTCCAGTGACACTGCTGAGGTTGTCCTGGTTGCAGGAGTAAATTATAGGG
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Task1_train_21726
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A variant on Chromosome 15 in gene EDC3 (enhancer of mRNA decapping 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Intellectual disability, autosomal recessive 50
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AGATGAATGCAATACTTAAGCTAAATCTGGCCAGGGCAGGGGGAATGAGTGGCTAAGCAAAGAACAGCAGGGAGAAAGGCATCTCAGGTAGGGGCTCAGAGACTGAGGAAATGTAGAAAATATGGCCCACGTGAGGAACTGCAAGTGTTATGGTGATACTAAAGGGACGGATGTTGTGGAAGGCCATCAGGAAGTAAGGTTGCAGAGGTAACCAAGGACCACATCATGATCACAATGGATTTTCCTGGTGGCTATAGGGAAGGAGAAGAAAAAAGAGGCAGTGGTACCAGTTAGAAGACCAAGCAAGAAATAAGAGGGGATGAACCAAGCAAGCGGTAATACAAAGGGAGAAGGGATCAAGAGACATTTCGAATCCATACGATTTTGGCAACTAACTGAACACGAGGATTAAAGAGAAAGAAGAGTTTATTATGACTCCTAAGTTTCTAACATAGGGGAAAGGTGTTATTAGTCATAAATAATGGGTATGCCCTTGGAAAAACAAATCTACAGGAAAACATAACGAGATTAGCTCCGAAAATCTTGCATTTAAGATATCTTGTGGGATGTCCAATGGAAATGACCAGCAGACAAGGTGTCTGTCTCATAATGGGACTAAATTAAAGATTTGAGGTCTTGGCTGGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGAAGGGCAGATTACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAACAAAATTAGTCGGGCATGGTGGCGGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGATGGAGTTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGTGACAGAGTGAGACTCCATCAAAAAAAAAAAAAAAAAAAAGATTTGAGGTCTCATTAACATATAGAGTACACAAGAGTTTGTCTAGAGAATAAAAGCTGAGAAAAGAACCAAAGATAGAACCCTGAGTAATTCAATCTTAACAGGTGAGTAGAAGAAAAGGAACATAAAAAACAACAAAAAAAGTAAAGGAATGGAGGAATATGTGGAATACATGCAAAGAAAAACCAAAGAGGTGACAGGGAAACTAAAGGACAGTACTGTACTTTAAAAGATAGGGAGCATTTTATTTTTATTTATTTTTTTACAGACAGGGTCTTGCTCTATTACCCAGGCTGGAGTGCAGTGGTGCTATCATAGCTCACTGCAGTCTCCAACTCCTAGGCTCAAGTGATCTTCCTGTCTGAGCCCCAGGAGTAGCTGCGATTACAGGCACATGCCACCACACCCAGCTAATTTTTAAAATTTTTCTTTTGTAAAGACGAGGTCTCACTATGTTGACTAGCCAGTTTTGAAATCCTAGCCTCAAGTGATACTGCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTATAAGCCACTGCACCCATCAGGGAGCATTCAAATGAGATTGGGATTGAGATACTGTCAGTGAATTTGGCCATTAGGTTATTTGTAACCTTGGCAAAAACTAATTCAGCAAGATGACAAAGTTAGAAAAAAAGATAATGGTAGGGTACGGAGGTTCTAGAGAATGAAGCCACAAAAGATAGAGAAAGCAGATTATTTGGCTCTGACAAGGATTATGGGTTAAAGGGAAGGGAAATGACACAACAATACCTAGTGGCAAATGCAAGATCTAAGGGAGAGGGTTGTTTTTAATAAAGGGGAGGCCAAGGAATGAATATCGGAATGCAAAGAGGAAATAAACAGTATAGGCCGGGCATGGTGGTTCACACCTGAAATCCCAGCACTTCGGGAGGCCACAACGGGCAGATTACTTGAGGCCAGTAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGCGGCCATATGCCAAGAGAATACTAGCAATCAGACCTAGGTTCAAGCTCCACAGACCACCAGGTTGGATTCAGAAGAGTCAGTCAGGACACTCACCTGAAGGTGACTTCTGGAACAAGACACTTCACTCCATTATGGAAAGGCCGGGTGAGAGAAATGGTCTGGCTGACCTGATCCACAGCTGACACTCTTCCCTGATAGACACCCAAGCTATCTCCACAATTGATGGACACAATACTTCCCAGCCAATCTGTAGCCATGTTTCACACGTGAGACCACTGTGAAGAGAAGGAACTATTCAGTGTGCCTTGGTGAAAAGACAAACTTTTAATTAAATTCAGCAAATATATCAGGCTCTGTACCAAGTGTTGGTTAATAAAACATATTCTATCACATTGTTAACTGAGGTAATAAATCTTAAAAAAATTAAAATTTTTTTTCAGGAGTATGAATATTAAAAAATAATATTATTTAATACATATAAAGATCTTATAATTGCTTTAAAGCGCATACATTGGATAAAGATATTTATTACACATCAAATCACACAAACTATAATCTGTTTATATTGTATTTTAATAAATCTGCTGTCAAAATGTTTTCAAAGAGAGTATGTTGCTGAGAAATAATATATTAAAAAAACAAATTACTGATAATGCCACTCTTGCTGATGATGATAATAATAATAATAATTAATAATAATAGTAAATTCTGGATAGTTGTTTTTTTTTTTTTTGAGACGGAGTTTCACTATTGTTGCCCAGGCTGGAGTGCAATGGTGCGAGGCGGGCAGATCACGAGGTCACGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACCCGGGAAGCTGAGGCAGGAGAATGGCGTCAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCTGCCTCAAAAAAAAAAAAAAGAAATTTTTTTAAAGCCAATTGAAGGTACTATAGAACACTAAACCTAACGACTACAGAATATATATCCTTTTCAAGTCTACATAGAATGTTCACGCATATATGCTGGGCCTTAAACAAGTATGAATAAATTTAAAAAGACTGAGATCACATAAAATATATTCTCTACCCACAACAGAATTAAATTTGAAATTGATAAAAATAGATATTTAGAATATTCCCAAATATTTGGAAATTAAGCAAGACATTTCCAAATAACCTATGGGTAAAAGAAGAAATCAAAAGGGCAGTCAGAAAATAGTTCTAACTCAACGATAATGAAAACACAACATCAACTTTTGTATGACATGCTTAATATAGTGCGTAAAAGGGGGAATTTATAACTTTAAGTGCTTGTTAGGAAAGAAAGGTCTAAAATCAATTGTCTAAGCTTCCATCTTAAGTATTAGTAAAAAAAGAACAGATTAACCTGATGTTAATAGAAAGGAAATCAAGAGCAGAAACCAATGAAACAAGAAACAACTAAGAAAAATAAAACAAAAATTAGCTCTTTGAAAATATTAATAAAGTTGGTAAACACCTAATAAAGAAAAAAGATAAAACACATATTATTAATATCAGAAATGAACAAAGAGACATCATAGACATTAAAAAATAACCTTATGCCAGCAAATTTGACAACTAGACAAAATGGGGAACTTCTTAGACAAAAGTTATCAAAACTGACACAAGAAATTAAAAATCTGAGTAGCTGCATGTCTATTTTAAAAACTGAATTTATCAAGAGAATAAGACAAGACACAAATTAGGAGAAAATATTTGTGAAAGACATATTTGATAAAGGTCTGTTATCCATAACATACCAAGAACTCTTAAAACTCAACAATAAGAAAATGAACAACCTGATGAAACAATGAGCAAGAGACCCAAAAGGATACTTCACCAAAGAAGACATGGACACGGCAGGCAAGCATATGAAAAGATGCTCTACATCATATCATCAGGGAATTAATGGAAATTAAAACAACAATAAGATGCCACTACACACCTGTCAGAATGGCCGAAATCCAAAACACTGACAACACCAAATGCTGACGAGGATGTGGAGCAACAAAAACC
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AGATGAATGCAATACTTAAGCTAAATCTGGCCAGGGCAGGGGGAATGAGTGGCTAAGCAAAGAACAGCAGGGAGAAAGGCATCTCAGGTAGGGGCTCAGAGACTGAGGAAATGTAGAAAATATGGCCCACGTGAGGAACTGCAAGTGTTATGGTGATACTAAAGGGACGGATGTTGTGGAAGGCCATCAGGAAGTAAGGTTGCAGAGGTAACCAAGGACCACATCATGATCACAATGGATTTTCCTGGTGGCTATAGGGAAGGAGAAGAAAAAAGAGGCAGTGGTACCAGTTAGAAGACCAAGCAAGAAATAAGAGGGGATGAACCAAGCAAGCGGTAATACAAAGGGAGAAGGGATCAAGAGACATTTCGAATCCATACGATTTTGGCAACTAACTGAACACGAGGATTAAAGAGAAAGAAGAGTTTATTATGACTCCTAAGTTTCTAACATAGGGGAAAGGTGTTATTAGTCATAAATAATGGGTATGCCCTTGGAAAAACAAATCTACAGGAAAACATAACGAGATTAGCTCCGAAAATCTTGCATTTAAGATATCTTGTGGGATGTCCAATGGAAATGACCAGCAGACAAGGTGTCTGTCTCATAATGGGACTAAATTAAAGATTTGAGGTCTTGGCTGGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGAAGGGCAGATTACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAACAAAATTAGTCGGGCATGGTGGCGGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGATGGAGTTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGTGACAGAGTGAGACTCCATCAAAAAAAAAAAAAAAAAAAAGATTTGAGGTCTCATTAACATATAGAGTACACAAGAGTTTGTCTAGAGAATAAAAGCTGAGAAAAGAACCAAAGATAGAACCCTGAGTAATTCAATCTTAACAGGTGAGTAGAAGAAAAGGAACATAAAAAACAACAAAAAAAGTAAAGGAATGGAGGAATATGTGGAATACATGCAAAGAAAAACCAAAGAGGTGACAGGGAAACTAAAGGACAGTACTGTACTTTAAAAGATAGGGAGCATTTTATTTTTATTTATTTTTTTACAGACAGGGTCTTGCTCTATTACCCAGGCTGGAGTGCAGTGGTGCTATCATAGCTCACTGCAGTCTCCAACTCCTAGGCTCAAGTGATCTTCCTGTCTGAGCCCCAGGAGTAGCTGCGATTACAGGCACATGCCACCACACCCAGCTAATTTTTAAAATTTTTCTTTTGTAAAGACGAGGTCTCACTATGTTGACTAGCCAGTTTTGAAATCCTAGCCTCAAGTGATACTGCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTATAAGCCACTGCACCCATCAGGGAGCATTCAAATGAGATTGGGATTGAGATACTGTCAGTGAATTTGGCCATTAGGTTATTTGTAACCTTGGCAAAAACTAATTCAGCAAGATGACAAAGTTAGAAAAAAAGATAATGGTAGGGTACGGAGGTTCTAGAGAATGAAGCCACAAAAGATAGAGAAAGCAGATTATTTGGCTCTGACAAGGATTATGGGTTAAAGGGAAGGGAAATGACACAACAATACCTAGTGGCAAATGCAAGATCTAAGGGAGAGGGTTGTTTTTAATAAAGGGGAGGCCAAGGAATGAATATCGGAATGCAAAGAGGAAATAAACAGTATAGGCCGGGCATGGTGGTTCACACCTGAAATCCCAGCACTTCGGGAGGCCACAACGGGCAGATTACTTGAGGCCAGTAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGCGGCCATATGCCAAGAGAATACTAGCAATCAGACCTAGGTTCAAGCTCCACAGACCACCAGGTTGGATTCAGAAGAGTCAGTCAGGACACTCACCTGGAGGTGACTTCTGGAACAAGACACTTCACTCCATTATGGAAAGGCCGGGTGAGAGAAATGGTCTGGCTGACCTGATCCACAGCTGACACTCTTCCCTGATAGACACCCAAGCTATCTCCACAATTGATGGACACAATACTTCCCAGCCAATCTGTAGCCATGTTTCACACGTGAGACCACTGTGAAGAGAAGGAACTATTCAGTGTGCCTTGGTGAAAAGACAAACTTTTAATTAAATTCAGCAAATATATCAGGCTCTGTACCAAGTGTTGGTTAATAAAACATATTCTATCACATTGTTAACTGAGGTAATAAATCTTAAAAAAATTAAAATTTTTTTTCAGGAGTATGAATATTAAAAAATAATATTATTTAATACATATAAAGATCTTATAATTGCTTTAAAGCGCATACATTGGATAAAGATATTTATTACACATCAAATCACACAAACTATAATCTGTTTATATTGTATTTTAATAAATCTGCTGTCAAAATGTTTTCAAAGAGAGTATGTTGCTGAGAAATAATATATTAAAAAAACAAATTACTGATAATGCCACTCTTGCTGATGATGATAATAATAATAATAATTAATAATAATAGTAAATTCTGGATAGTTGTTTTTTTTTTTTTTGAGACGGAGTTTCACTATTGTTGCCCAGGCTGGAGTGCAATGGTGCGAGGCGGGCAGATCACGAGGTCACGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACCCGGGAAGCTGAGGCAGGAGAATGGCGTCAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCTGCCTCAAAAAAAAAAAAAAGAAATTTTTTTAAAGCCAATTGAAGGTACTATAGAACACTAAACCTAACGACTACAGAATATATATCCTTTTCAAGTCTACATAGAATGTTCACGCATATATGCTGGGCCTTAAACAAGTATGAATAAATTTAAAAAGACTGAGATCACATAAAATATATTCTCTACCCACAACAGAATTAAATTTGAAATTGATAAAAATAGATATTTAGAATATTCCCAAATATTTGGAAATTAAGCAAGACATTTCCAAATAACCTATGGGTAAAAGAAGAAATCAAAAGGGCAGTCAGAAAATAGTTCTAACTCAACGATAATGAAAACACAACATCAACTTTTGTATGACATGCTTAATATAGTGCGTAAAAGGGGGAATTTATAACTTTAAGTGCTTGTTAGGAAAGAAAGGTCTAAAATCAATTGTCTAAGCTTCCATCTTAAGTATTAGTAAAAAAAGAACAGATTAACCTGATGTTAATAGAAAGGAAATCAAGAGCAGAAACCAATGAAACAAGAAACAACTAAGAAAAATAAAACAAAAATTAGCTCTTTGAAAATATTAATAAAGTTGGTAAACACCTAATAAAGAAAAAAGATAAAACACATATTATTAATATCAGAAATGAACAAAGAGACATCATAGACATTAAAAAATAACCTTATGCCAGCAAATTTGACAACTAGACAAAATGGGGAACTTCTTAGACAAAAGTTATCAAAACTGACACAAGAAATTAAAAATCTGAGTAGCTGCATGTCTATTTTAAAAACTGAATTTATCAAGAGAATAAGACAAGACACAAATTAGGAGAAAATATTTGTGAAAGACATATTTGATAAAGGTCTGTTATCCATAACATACCAAGAACTCTTAAAACTCAACAATAAGAAAATGAACAACCTGATGAAACAATGAGCAAGAGACCCAAAAGGATACTTCACCAAAGAAGACATGGACACGGCAGGCAAGCATATGAAAAGATGCTCTACATCATATCATCAGGGAATTAATGGAAATTAAAACAACAATAAGATGCCACTACACACCTGTCAGAATGGCCGAAATCCAAAACACTGACAACACCAAATGCTGACGAGGATGTGGAGCAACAAAAACC
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Task1_train_21727
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This sequence change occurs on Chromosome 15, altering MPI (mannose phosphate isomerase). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; MPI-congenital disorder of glycosylation
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CACTTTACCCGCAGGTCAGGAGAAAGGGCCTGAGGCAAGTCATAAGAATCAGCTGGGAAGGGTGAGGCAGCAAGGAGGGAGGAGACCCACTTGGCTCTTCAGGCTAATGGACTAGATAGTGTTATCAAAAAGAAGAGAGGTTTTGTCATAATAGGCTGGGATTTCCAGCACTCTCCTTCCCCCAACCACTCTTAGCACTTAGTGAATTTTAATTCAGCCCTCTTTGACAATTAAGTTTTTTTACTTTGACTATTTTTTTGCATTTTTATTAACCTAAAATATTTCTCCTGCCTATTTAGTGGAGAAAAAGCCAAAGCATAGGAAGGCTTTCGCCTCTGCTTCTGAAACTGGAAGATGTATGTTAACCCCTGAAAGAATCATTTAAGAGTCATAGTTTTTCTGCTACCTTGACAGTGCAGATGTCATTCTCCTCTTTGGACAGACAAAGAAGATACATCTAAAGAAGGGAAATAACTAGTCCAAGTCTTCATAGATGGCTAGAGGCCGAGTCTGGACAAGGGCCTGGGTCTACTGCCTCCCTGTATGTCCATGATGGCATGAACATTTGTATCCAGACCTGGGAGGCCTTTCCCAGGACTCAGTTGCCCTGTGGGGAGCACAGCATAACGGATTGGGACAGGCCAACTCAGGGTGGCAGGTTTCTTCCCCCTTCCCCTCCCAAGTTTCCTGTCTTTCCAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAGATCCTTGACAACCGCATCTCACAGAAGACCCTAAGCCAGTGGATTGCTGAGAACCAGGACAGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTGCTCTCAGTTGAAACACCCCTGTCCATCCAGGCACACCCTAACAAGGTAAAGGACAGAGTGCGGTGCAGAGGTCAGGGTACAGAAGGGCTTATGCTAAGGCCCTCCCGTGACTTTTACTGCCACTTTTACCCCACCCATGCCAGGCTCCTGCCCAAGGCCAAATCCAGGCTGACAACTCCCAATTTAGCTCTGCAAAGCCAGATGGTAGTGACACATGCAGCAACTAAGTCTAAGCAAACAGCTCACCGGCCTGTGCCAGGGGAGTTTCTCTAAGCTCATTCCAAGGGGCTTGTTCCTGGTCTTCCCTCATCCAACCCATGTCTATTCATATCTGCCATTTACTCATCTGCTTTCAGGAAGAGTTCAACTTGCAAGGCAGGGCAGGTACCCTCAGCCCCACCCCCATGGAGTCTCCCTACACAAGCCGGAGTCCCATCCTAAGCAACTGTGGATCAAAACTCCTTTTTTTTTTTTTCTGAGACTTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCTCCTCCCAATTCAAGCAATTCTTCTGCTTCAGCCTCGCAAATAGCTGGGACTACAGGCACGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGCCCTCGTAATCCGCTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAAAACTCCTTATTTCTAGATACACAAAGTAAGACCCAGAGAAGGGAGGGATTTACCAAAGCCACACAGCTTGTTAGTGTCAGAGCTTGGTCTGGTATTTGGGTTTCCTGATTCACAGGCCAAGCCTCTTAAAGTCTGCCCCAGCTTTTCCCTGATTTGCCCCGGGGTTGCCCCTGATTTGCCCCTGCCCTGGGTTGGCTGAGCCCCAAGTTTCTGCAACATGCTTTGACTGGGCTCCTTGCCAGAGGTAGGTAGTCACTGCCATCCTGCAACTGGGGAGGGTGGACAGCAGGGGCTAGGTGGCACTGGTGTACCTGCTAGGTAATGGCTGTACCCTCACCATCCTCCTCTTCCCCTGGCCACCCCACAGGAGCTGGCAGAGAAGCTGCACCTCCAGGCTCCGCAGCACTACCCCGATGCCAACCACAAGCCAGAGATGGCCATTGCCCTCACCCCCTTCCAGGGCTTGTGTGGCTTCCGGCCAGTTGAGGAGATTGTAACCTTTCTAAAGAGTAAGTTGGGCAGAATGCTGAAGGCATGCGTACTGGGCCAGGGATACCTGGGGAACCAAGATGATAGGAACAGTGGCTGAGAACGGGTCACATGTCACAGGAACTGAAGGGCCTCATGAAGCAGTTTTTGGAGCCAGTGAGCCAGGCCAGTGAGACCAGGCTCAGGTGTGGTAGTCAAGGGCTGGTGGTGAGTGATTGGTTTCCACTGCAAAGTTTACTTAGCATTGCCGGCTCTTTGGTTAGGGCTGGGATGGAAAGGTGTCCTCCAACTCCCCACTTGTGTGGGTTCCATCTTACCATTCCTGATATGGGCCCTGGGCCTTGCCTTCCTGTAGAGGTGCCTGAGTTTCAGTTCCTGATTGGAGATGAGGCAGCAACACACCTGAAGCAGACCATGAGCCATGACTCCCAGGCTGTGGCCTCCTCTCTGCAGAGCTGTTTCTCCCACCTGATGAAGAGTGAGAAGAAGGTGGTGGTGGAACAGCTCAACCTGTTGGTGAAGCGGATCTCCCAGCAAGGTGGACACAGTTATATTCCTGGTTGGGTGCAATGCTCTGGCCTGGGCTTCCCAGCAGACACCAGACTCTGGGGACAGTTCTCAACCCCCTTGCCCAAGTGGAACACTAAAAGGGGCCCCACTTAGATGACCTGTTGGCAACTTAGCATTGCTTGCCTAGTCTTTGTGGAGCAGGGCCCTTCTTAGTTGAGTGCTGCTTCCCAACTGGTCATCTTCTCCAGATGGTTGGAGGCAGACTGGCATAGAGGACTCTTAGGATGCCTTCCACCTAGGCATTCTGAGATTTTCCCTAGCCCTGCAGCTGCCCTCCATGGATGGACTTGTATCTCGGGGCTAAAGAGGCAGGAAGGGGACACGAGCATCCTCCCTCTCCTGGAAAGGACTGATGCCTCCAGCACTCAGTCATTTGATCTTTCCTTTACCTTCTGTGTGCCCAACCTTGTGCTAAGAAGAGTTCAGGAAATGACTGTGATGGGTGTGGTCACTGTCACCCTAAAGGTGGGGAGTCAACACAAGCAGTAAGAAACCCAAAACAGAACAGACTCCCAGCAATGAGCTTATGTGGTGCAGGCGATGAGGTCTCAGCTTCTTAGCCTGGCAGCCACAACCCCTTCTCTAGGTGGCCCAGAGCTCTCTTTTTATTTTACCTCTACAGGTTTCCCATTACCTTTGAGCCTTAGGGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACATCTGGTTAAGTTTTTATATTTTAGTAGAGACGGAGTTTCACCATGTTGCCTAGGCGGGTCTCGAACTCCTGAGCTCAGGCAATTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCAGGCCCCTTGCCTCACTTTAAAGAAGCCTGGCTGGGCACGGTGGCTCACACCTGTAATCCTAACACTTTGGGAGGTTGAGGCGGCCGTATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGGAACCCCATCTCTACTAAAGATACAAAAATTAGCCAGGCGAGGCAGAGGTTGTGGTGAGCCTAGATCATGCCACTGCACTTCAGCCGGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATGCTGGGCATGGTGGTGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGCAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCTAGATTGCACCACTGCACTTCAGCCTGGGAGACAGAGCAA
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CACTTTACCCGCAGGTCAGGAGAAAGGGCCTGAGGCAAGTCATAAGAATCAGCTGGGAAGGGTGAGGCAGCAAGGAGGGAGGAGACCCACTTGGCTCTTCAGGCTAATGGACTAGATAGTGTTATCAAAAAGAAGAGAGGTTTTGTCATAATAGGCTGGGATTTCCAGCACTCTCCTTCCCCCAACCACTCTTAGCACTTAGTGAATTTTAATTCAGCCCTCTTTGACAATTAAGTTTTTTTACTTTGACTATTTTTTTGCATTTTTATTAACCTAAAATATTTCTCCTGCCTATTTAGTGGAGAAAAAGCCAAAGCATAGGAAGGCTTTCGCCTCTGCTTCTGAAACTGGAAGATGTATGTTAACCCCTGAAAGAATCATTTAAGAGTCATAGTTTTTCTGCTACCTTGACAGTGCAGATGTCATTCTCCTCTTTGGACAGACAAAGAAGATACATCTAAAGAAGGGAAATAACTAGTCCAAGTCTTCATAGATGGCTAGAGGCCGAGTCTGGACAAGGGCCTGGGTCTACTGCCTCCCTGTATGTCCATGATGGCATGAACATTTGTATCCAGACCTGGGAGGCCTTTCCCAGGACTCAGTTGCCCTGTGGGGAGCACAGCATAACGGATTGGGACAGGCCAACTCAGGGTGGCAGGTTTCTTCCCCCTTCCCCTCCCAAGTTTCCTGTCTTTCCAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAGATCCTTGACAACCGCATCTCACAGAAGACCCTAAGCCAGTGGATTGCTGAGAACCAGGACAGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTGCTCTCAGTTGAAACACCCCTGTCCATCCAGGCACACCCTAACAAGGTAAAGGACAGAGTGCGGTGCAGAGGTCAGGGTACAGAAGGGCTTATGCTAAGGCCCTCCCGTGACTTTTACTGCCACTTTTACCCCACCCATGCCAGGCTCCTGCCCAAGGCCAAATCCAGGCTGACAACTCCCAATTTAGCTCTGCAAAGCCAGATGGTAGTGACACATGCAGCAACTAAGTCTAAGCAAACAGCTCACCGGCCTGTGCCAGGGGAGTTTCTCTAAGCTCATTCCAAGGGGCTTGTTCCTGGTCTTCCCTCATCCAACCCATGTCTATTCATATCTGCCATTTACTCATCTGCTTTCAGGAAGAGTTCAACTTGCAAGGCAGGGCAGGTACCCTCAGCCCCACCCCCATGGAGTCTCCCTACACAAGCCGGAGTCCCATCCTAAGCAACTGTGGATCAAAACTCCTTTTTTTTTTTTTCTGAGACTTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCTCCTCCCAATTCAAGCAATTCTTCTGCTTCAGCCTCGCAAATAGCTGGGACTACAGGCACGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGCCCTCGTAATCCGCTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAAAACTCCTTATTTCTAGATACACAAAGTAAGACCCAGAGAAGGGAGGGATTTACCAAAGCCACACAGCTTGTTAGTGTCAGAGCTTGGTCTGGTATTTGGGTTTCCTGATTCACAGGCCAAGCCTCTTAAAGTCTGCCCCAGCTTTTCCCTGATTTGCCCCGGGGTTGCCCCTGATTTGCCCCTGCCCTGGGTTGGCTGAGCCCCAAGTTTCTGCAACATGCTTTGACTGGGCTCCTTGCCAGAGGTAGGTAGTCACTGCCATCCTGCAACTGGGGAGGGTGGACAGCAGGGGCTAGGTGGCACTGGTGTACCTGCTAGGTAATGGCTGTACCCTCACCATCCTCCTCTTCCCCTGGCCACCCCACAGGAGCTGGCAGAGAAGCTGCACCTCCAGGCTCCGCAGCACTACCCCGATGCCAACCACAAGCCAGAGACGGCCATTGCCCTCACCCCCTTCCAGGGCTTGTGTGGCTTCCGGCCAGTTGAGGAGATTGTAACCTTTCTAAAGAGTAAGTTGGGCAGAATGCTGAAGGCATGCGTACTGGGCCAGGGATACCTGGGGAACCAAGATGATAGGAACAGTGGCTGAGAACGGGTCACATGTCACAGGAACTGAAGGGCCTCATGAAGCAGTTTTTGGAGCCAGTGAGCCAGGCCAGTGAGACCAGGCTCAGGTGTGGTAGTCAAGGGCTGGTGGTGAGTGATTGGTTTCCACTGCAAAGTTTACTTAGCATTGCCGGCTCTTTGGTTAGGGCTGGGATGGAAAGGTGTCCTCCAACTCCCCACTTGTGTGGGTTCCATCTTACCATTCCTGATATGGGCCCTGGGCCTTGCCTTCCTGTAGAGGTGCCTGAGTTTCAGTTCCTGATTGGAGATGAGGCAGCAACACACCTGAAGCAGACCATGAGCCATGACTCCCAGGCTGTGGCCTCCTCTCTGCAGAGCTGTTTCTCCCACCTGATGAAGAGTGAGAAGAAGGTGGTGGTGGAACAGCTCAACCTGTTGGTGAAGCGGATCTCCCAGCAAGGTGGACACAGTTATATTCCTGGTTGGGTGCAATGCTCTGGCCTGGGCTTCCCAGCAGACACCAGACTCTGGGGACAGTTCTCAACCCCCTTGCCCAAGTGGAACACTAAAAGGGGCCCCACTTAGATGACCTGTTGGCAACTTAGCATTGCTTGCCTAGTCTTTGTGGAGCAGGGCCCTTCTTAGTTGAGTGCTGCTTCCCAACTGGTCATCTTCTCCAGATGGTTGGAGGCAGACTGGCATAGAGGACTCTTAGGATGCCTTCCACCTAGGCATTCTGAGATTTTCCCTAGCCCTGCAGCTGCCCTCCATGGATGGACTTGTATCTCGGGGCTAAAGAGGCAGGAAGGGGACACGAGCATCCTCCCTCTCCTGGAAAGGACTGATGCCTCCAGCACTCAGTCATTTGATCTTTCCTTTACCTTCTGTGTGCCCAACCTTGTGCTAAGAAGAGTTCAGGAAATGACTGTGATGGGTGTGGTCACTGTCACCCTAAAGGTGGGGAGTCAACACAAGCAGTAAGAAACCCAAAACAGAACAGACTCCCAGCAATGAGCTTATGTGGTGCAGGCGATGAGGTCTCAGCTTCTTAGCCTGGCAGCCACAACCCCTTCTCTAGGTGGCCCAGAGCTCTCTTTTTATTTTACCTCTACAGGTTTCCCATTACCTTTGAGCCTTAGGGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACATCTGGTTAAGTTTTTATATTTTAGTAGAGACGGAGTTTCACCATGTTGCCTAGGCGGGTCTCGAACTCCTGAGCTCAGGCAATTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCAGGCCCCTTGCCTCACTTTAAAGAAGCCTGGCTGGGCACGGTGGCTCACACCTGTAATCCTAACACTTTGGGAGGTTGAGGCGGCCGTATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGGAACCCCATCTCTACTAAAGATACAAAAATTAGCCAGGCGAGGCAGAGGTTGTGGTGAGCCTAGATCATGCCACTGCACTTCAGCCGGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATGCTGGGCATGGTGGTGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGCAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCTAGATTGCACCACTGCACTTCAGCCTGGGAGACAGAGCAA
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Task1_train_21728
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The following genetic variant occurs in MPI (mannose phosphate isomerase) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; MPI-congenital disorder of glycosylation
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TGGGAGGCCTTTCCCAGGACTCAGTTGCCCTGTGGGGAGCACAGCATAACGGATTGGGACAGGCCAACTCAGGGTGGCAGGTTTCTTCCCCCTTCCCCTCCCAAGTTTCCTGTCTTTCCAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAGATCCTTGACAACCGCATCTCACAGAAGACCCTAAGCCAGTGGATTGCTGAGAACCAGGACAGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTGCTCTCAGTTGAAACACCCCTGTCCATCCAGGCACACCCTAACAAGGTAAAGGACAGAGTGCGGTGCAGAGGTCAGGGTACAGAAGGGCTTATGCTAAGGCCCTCCCGTGACTTTTACTGCCACTTTTACCCCACCCATGCCAGGCTCCTGCCCAAGGCCAAATCCAGGCTGACAACTCCCAATTTAGCTCTGCAAAGCCAGATGGTAGTGACACATGCAGCAACTAAGTCTAAGCAAACAGCTCACCGGCCTGTGCCAGGGGAGTTTCTCTAAGCTCATTCCAAGGGGCTTGTTCCTGGTCTTCCCTCATCCAACCCATGTCTATTCATATCTGCCATTTACTCATCTGCTTTCAGGAAGAGTTCAACTTGCAAGGCAGGGCAGGTACCCTCAGCCCCACCCCCATGGAGTCTCCCTACACAAGCCGGAGTCCCATCCTAAGCAACTGTGGATCAAAACTCCTTTTTTTTTTTTTCTGAGACTTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCTCCTCCCAATTCAAGCAATTCTTCTGCTTCAGCCTCGCAAATAGCTGGGACTACAGGCACGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGCCCTCGTAATCCGCTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAAAACTCCTTATTTCTAGATACACAAAGTAAGACCCAGAGAAGGGAGGGATTTACCAAAGCCACACAGCTTGTTAGTGTCAGAGCTTGGTCTGGTATTTGGGTTTCCTGATTCACAGGCCAAGCCTCTTAAAGTCTGCCCCAGCTTTTCCCTGATTTGCCCCGGGGTTGCCCCTGATTTGCCCCTGCCCTGGGTTGGCTGAGCCCCAAGTTTCTGCAACATGCTTTGACTGGGCTCCTTGCCAGAGGTAGGTAGTCACTGCCATCCTGCAACTGGGGAGGGTGGACAGCAGGGGCTAGGTGGCACTGGTGTACCTGCTAGGTAATGGCTGTACCCTCACCATCCTCCTCTTCCCCTGGCCACCCCACAGGAGCTGGCAGAGAAGCTGCACCTCCAGGCTCCGCAGCACTACCCCGATGCCAACCACAAGCCAGAGATGGCCATTGCCCTCACCCCCTTCCAGGGCTTGTGTGGCTTCCGGCCAGTTGAGGAGATTGTAACCTTTCTAAAGAGTAAGTTGGGCAGAATGCTGAAGGCATGCGTACTGGGCCAGGGATACCTGGGGAACCAAGATGATAGGAACAGTGGCTGAGAACGGGTCACATGTCACAGGAACTGAAGGGCCTCATGAAGCAGTTTTTGGAGCCAGTGAGCCAGGCCAGTGAGACCAGGCTCAGGTGTGGTAGTCAAGGGCTGGTGGTGAGTGATTGGTTTCCACTGCAAAGTTTACTTAGCATTGCCGGCTCTTTGGTTAGGGCTGGGATGGAAAGGTGTCCTCCAACTCCCCACTTGTGTGGGTTCCATCTTACCATTCCTGATATGGGCCCTGGGCCTTGCCTTCCTGTAGAGGTGCCTGAGTTTCAGTTCCTGATTGGAGATGAGGCAGCAACACACCTGAAGCAGACCATGAGCCATGACTCCCAGGCTGTGGCCTCCTCTCTGCAGAGCTGTTTCTCCCACCTGATGAAGAGTGAGAAGAAGGTGGTGGTGGAACAGCTCAACCTGTTGGTGAAGCGGATCTCCCAGCAAGGTGGACACAGTTATATTCCTGGTTGGGTGCAATGCTCTGGCCTGGGCTTCCCAGCAGACACCAGACTCTGGGGACAGTTCTCAACCCCCTTGCCCAAGTGGAACACTAAAAGGGGCCCCACTTAGATGACCTGTTGGCAACTTAGCATTGCTTGCCTAGTCTTTGTGGAGCAGGGCCCTTCTTAGTTGAGTGCTGCTTCCCAACTGGTCATCTTCTCCAGATGGTTGGAGGCAGACTGGCATAGAGGACTCTTAGGATGCCTTCCACCTAGGCATTCTGAGATTTTCCCTAGCCCTGCAGCTGCCCTCCATGGATGGACTTGTATCTCGGGGCTAAAGAGGCAGGAAGGGGACACGAGCATCCTCCCTCTCCTGGAAAGGACTGATGCCTCCAGCACTCAGTCATTTGATCTTTCCTTTACCTTCTGTGTGCCCAACCTTGTGCTAAGAAGAGTTCAGGAAATGACTGTGATGGGTGTGGTCACTGTCACCCTAAAGGTGGGGAGTCAACACAAGCAGTAAGAAACCCAAAACAGAACAGACTCCCAGCAATGAGCTTATGTGGTGCAGGCGATGAGGTCTCAGCTTCTTAGCCTGGCAGCCACAACCCCTTCTCTAGGTGGCCCAGAGCTCTCTTTTTATTTTACCTCTACAGGTTTCCCATTACCTTTGAGCCTTAGGGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACATCTGGTTAAGTTTTTATATTTTAGTAGAGACGGAGTTTCACCATGTTGCCTAGGCGGGTCTCGAACTCCTGAGCTCAGGCAATTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCAGGCCCCTTGCCTCACTTTAAAGAAGCCTGGCTGGGCACGGTGGCTCACACCTGTAATCCTAACACTTTGGGAGGTTGAGGCGGCCGTATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGGAACCCCATCTCTACTAAAGATACAAAAATTAGCCAGGCGAGGCAGAGGTTGTGGTGAGCCTAGATCATGCCACTGCACTTCAGCCGGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATGCTGGGCATGGTGGTGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGCAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCTAGATTGCACCACTGCACTTCAGCCTGGGAGACAGAGCAAGACTCCGATTCGGAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAAAATTTAAAAATTAAAGAAGTCCACCCTTGCCACTCTACCCAGGCTGAGCTCATTTTCCCTTGTCGTTTCCAGGACACATTTTGGCCCTCAGCGCATTCTGCCTCATGCTCTCTGGAGCAGACCGAGAGAGATTCTCTGAGACATAGAACTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGATCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCTGGCTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAAACTGGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTCCTGAGATGACAGGTGTGAGCCACCGCGCCCAGCTGAGACACAGAACTTTCAGTGCTAAAAACTAGAAAGTCGCCGGGTGCGGTGGCTCACACCTGTATTCCCAGCACTTTGGG
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TGGGAGGCCTTTCCCAGGACTCAGTTGCCCTGTGGGGAGCACAGCATAACGGATTGGGACAGGCCAACTCAGGGTGGCAGGTTTCTTCCCCCTTCCCCTCCCAAGTTTCCTGTCTTTCCAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAGATCCTTGACAACCGCATCTCACAGAAGACCCTAAGCCAGTGGATTGCTGAGAACCAGGACAGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTGCTCTCAGTTGAAACACCCCTGTCCATCCAGGCACACCCTAACAAGGTAAAGGACAGAGTGCGGTGCAGAGGTCAGGGTACAGAAGGGCTTATGCTAAGGCCCTCCCGTGACTTTTACTGCCACTTTTACCCCACCCATGCCAGGCTCCTGCCCAAGGCCAAATCCAGGCTGACAACTCCCAATTTAGCTCTGCAAAGCCAGATGGTAGTGACACATGCAGCAACTAAGTCTAAGCAAACAGCTCACCGGCCTGTGCCAGGGGAGTTTCTCTAAGCTCATTCCAAGGGGCTTGTTCCTGGTCTTCCCTCATCCAACCCATGTCTATTCATATCTGCCATTTACTCATCTGCTTTCAGGAAGAGTTCAACTTGCAAGGCAGGGCAGGTACCCTCAGCCCCACCCCCATGGAGTCTCCCTACACAAGCCGGAGTCCCATCCTAAGCAACTGTGGATCAAAACTCCTTTTTTTTTTTTTCTGAGACTTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCTCCTCCCAATTCAAGCAATTCTTCTGCTTCAGCCTCGCAAATAGCTGGGACTACAGGCACGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGCCCTCGTAATCCGCTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAAAACTCCTTATTTCTAGATACACAAAGTAAGACCCAGAGAAGGGAGGGATTTACCAAAGCCACACAGCTTGTTAGTGTCAGAGCTTGGTCTGGTATTTGGGTTTCCTGATTCACAGGCCAAGCCTCTTAAAGTCTGCCCCAGCTTTTCCCTGATTTGCCCCGGGGTTGCCCCTGATTTGCCCCTGCCCTGGGTTGGCTGAGCCCCAAGTTTCTGCAACATGCTTTGACTGGGCTCCTTGCCAGAGGTAGGTAGTCACTGCCATCCTGCAACTGGGGAGGGTGGACAGCAGGGGCTAGGTGGCACTGGTGTACCTGCTAGGTAATGGCTGTACCCTCACCATCCTCCTCTTCCCCTGGCCACCCCACAGGAGCTGGCAGAGAAGCTGCACCTCCAGGCTCCGCAGCACTACCCCGATGCCAACCACAAGCCAGAGATGGCCATTGCCCTCACCCCCTTCCAGGGCTTGTGTGGCTTCCGGCCAGTTGAGGAGATTGTAACCTTTCTAAAGAGTAAGTTGGGCAGAATGCTGAAGGCATGCGTACTGGGCCAGGGATACCTGGGGAACCAAGATGATAGGAACAGTGGCTGAGAACGGGTCACATGTCACAGGAACTGAAGGGCCTCATGAAGCAGTTTTTGGAGCCAGTGAGCCAGGCCAGTGAGACCAGGCTCAGGTGTGGTAGTCAAGGGCTGGTGGTGAGTGATTGGTTTCCACTGCAAAGTTTACTTAGCATTGCCGGCTCTTTGGTTAGGGCTGGGATGGAAAGGTGTCCTCCAACTCCCCACTTGTGTGGGTTCCATCTTACCATTCCTGATATGGGCCCTGGGCCTTGCCTTCCTGTAGAGGTGCCTGAGTTTCAGTTCCTGATTGGAGATGAGGCAGCAACACACCTGAAGCAGACCATGAGCCATGACTCCCAGGCTGTGGCCTCCTCTCTGCAGAGCTGTTTCTCCCACCTGATGAAGAGTGAGAAGAAGGTGGTGGTGGAACAGCTCAACCTGTTGGTGAAGCAGATCTCCCAGCAAGGTGGACACAGTTATATTCCTGGTTGGGTGCAATGCTCTGGCCTGGGCTTCCCAGCAGACACCAGACTCTGGGGACAGTTCTCAACCCCCTTGCCCAAGTGGAACACTAAAAGGGGCCCCACTTAGATGACCTGTTGGCAACTTAGCATTGCTTGCCTAGTCTTTGTGGAGCAGGGCCCTTCTTAGTTGAGTGCTGCTTCCCAACTGGTCATCTTCTCCAGATGGTTGGAGGCAGACTGGCATAGAGGACTCTTAGGATGCCTTCCACCTAGGCATTCTGAGATTTTCCCTAGCCCTGCAGCTGCCCTCCATGGATGGACTTGTATCTCGGGGCTAAAGAGGCAGGAAGGGGACACGAGCATCCTCCCTCTCCTGGAAAGGACTGATGCCTCCAGCACTCAGTCATTTGATCTTTCCTTTACCTTCTGTGTGCCCAACCTTGTGCTAAGAAGAGTTCAGGAAATGACTGTGATGGGTGTGGTCACTGTCACCCTAAAGGTGGGGAGTCAACACAAGCAGTAAGAAACCCAAAACAGAACAGACTCCCAGCAATGAGCTTATGTGGTGCAGGCGATGAGGTCTCAGCTTCTTAGCCTGGCAGCCACAACCCCTTCTCTAGGTGGCCCAGAGCTCTCTTTTTATTTTACCTCTACAGGTTTCCCATTACCTTTGAGCCTTAGGGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACATCTGGTTAAGTTTTTATATTTTAGTAGAGACGGAGTTTCACCATGTTGCCTAGGCGGGTCTCGAACTCCTGAGCTCAGGCAATTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCAGGCCCCTTGCCTCACTTTAAAGAAGCCTGGCTGGGCACGGTGGCTCACACCTGTAATCCTAACACTTTGGGAGGTTGAGGCGGCCGTATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGGAACCCCATCTCTACTAAAGATACAAAAATTAGCCAGGCGAGGCAGAGGTTGTGGTGAGCCTAGATCATGCCACTGCACTTCAGCCGGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATGCTGGGCATGGTGGTGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGCAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCTAGATTGCACCACTGCACTTCAGCCTGGGAGACAGAGCAAGACTCCGATTCGGAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAAAATTTAAAAATTAAAGAAGTCCACCCTTGCCACTCTACCCAGGCTGAGCTCATTTTCCCTTGTCGTTTCCAGGACACATTTTGGCCCTCAGCGCATTCTGCCTCATGCTCTCTGGAGCAGACCGAGAGAGATTCTCTGAGACATAGAACTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGATCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCTGGCTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAAACTGGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTCCTGAGATGACAGGTGTGAGCCACCGCGCCCAGCTGAGACACAGAACTTTCAGTGCTAAAAACTAGAAAGTCGCCGGGTGCGGTGGCTCACACCTGTATTCCCAGCACTTTGGG
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Task1_train_21729
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Here is a variant affecting MPI (mannose phosphate isomerase) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; MPI-congenital disorder of glycosylation
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GCATGTTGGTTACCCTTCATGAAACTCTTTTGCGTTATCTCCCTAGATTTTGAGCTCCAAGGGCAGTGGTTCTCATACAGGGGACATTTGGCTGTTGTCTGGAGCCATTTTTTGATTGTCAAAACCCAGATAGGGGTTGCTAGTGGCATCTTGTGGGTGGAGGCCAGGGAAGCTGCTACACATCCATCAGTACACAGGACAGCCCCCACAATAAAGAATTACCTAGCCCAAATGTCAGTAGCGCCAAGGCTGAGAAATCCCATCCTGAAAGGACCATACTCTAGCTCTTTTAGTGGCTAGTATAGTCCTGGGCATATGAATAGTCAAGATATGATGAAAGATGGTATTTGTATGGACTGGAGTATCAAGCAAGGCTCGACCCCCAAAGGGCTGGAGGCGTGGCCAGAAGGACAGGGCCACTTTGGCTTCTGGATTCCTGTGGCAGGGACCTTTTCCTAGGACTCCCTGGCCAATGTGGGGCTATGAACAGCACTGAGTATCCCCCTAAGTGACCTTGGGGTGCTCTGTGACCCTCAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGGAGCTTTTGCTACAGCTGCACCAGCAGTACCCAGGTGATATCGGCTGCTTTGCCATCTACTTCCTGAACCTGCTTACCCTGAAGCCTGGGGAGGCCATGTTTCTGGAGGCCAACGTACCCCATGCCTACCTGAAAGGAGGTGAGCCACATTTCAGCAGTGAGCCCCACTGCCATCCCTGCTGGGCCCTGTTTCCCTATCTGGACAAAGGAAGGAGAAGGGTGGTCAAGGAGACCCCCAAGGACCTTGCAGCTCTGACCTCTGAGGGTTCCTGGGCTCAGCAAGCAACAGCTGGTAGGGATGATGAATGCATTTAGCATTGAACACGCCTTGAATCCTGACACCAACCCTGTGATGCCATGCTACTCTGATTTTAAGTCCTGCCAGTCAGTGTGGGAACCACAATTTGAACGCAGGCTATATTGGATCAAAGCTGTTGTTCTGTCACAGCCTTTGTATGTCTGTCCTACCTACCAGGGATTTTTACACTAAAATATGCATGTTGCCATGGAAGGATGCCACCTTTCGACTGTTGGCTGCTTATCCACACATGCCTCATGCACAGGATTCTGGGGTAGAAGTGGGAGACTACAGAGTTGGGGCTCCCCAACCCCCAGGGGTTAACATGACTCCCCTCTGACAATAATGGGTGACCTGTCACCTGTTTTTGGTATTTGATATCTTAACCCCATTCTCCCAGAGAATACAATTCATGGAAATTTTTACCTAACTTGGCATGGGGTTCATGGAGCTCAGGTTAGGAGGCCCAGAACTGGAGAGCTAAGGCATACTTCATCAGCTTAGCACATGACGACTGTCTCTCCAGACTGCGTGGAGTGCATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCCAAGTTCATTGATGTGCCAACCCTGTGTGAAATGCTCAGCTATACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACACGGAGTCAGGAAGACCCCTACCTCTCAATCTATGACCCCCCTGTACCAGACTTCACCATTATGAAGACGGAGGTGAGTGAGGGGCTATGATGGGTGTCCTTCGTGTGCCATGAAAATCTCTGGCAAGGGTCACGATGTGGAGGACACCTGGGGCTGGGTTTCCTGTCAAGCCCACTTGGCGGAGGGTGGCCCCAGGGCCTGCCCATTCCTTCCTGTACCAGGGACCAGGCCTCTATGCTGACTGAGCCTGGGTTGTGCGAGAAGGTGGCAGAGCTCTCCCTCGTGCCCTGGGGACTGTCCTGGGCCCATGAGCTGATGAGAGCAGAGTCTGAGCTGCACTGCCTTATCATTTCTTCCTGCCCAGGTCCCTGGCTCTGTCACTGAATACAAGGTCTTGGCACTGGACTCTGCCAGCATCCTCCTGATGGTACAGGGGACAGTAATAGCCAGCACACCCACAACCCAGACACCAATCCCTCTGCAACGTGGTGGCGTGCTCTTCATTGGGGCCAATGAGAGTGTCTCACTGAAGCTTACTGAGCCGAAGGACCTGCTGATATTCCGTGCCTGCTGTCTGCTGTAAAGGCTGCAGCCTCCCCAGCTCTCCTCTGCCAGCCACCCTAAATTCCAGCCAACCTCACCTCCTCGGGCCCAGCTCAAGCCCCCTTCCTTGCTCTGGACCCCTTAGGTATACCCTGGAAGAGCTGGGGTGGGGGAGGAGGGAGCGTGAAGGTAGTGACTCCTGAACACACCCAGGTGGAACCATCTTTGGGGAGGAGAGGCCCGTGTGAGGGGTCTGATACTCCCTTTGTCTTCCCTCTCTACTCCTCGCTACACCTGAGCCAGGCTCTTGCCAACTCTGTTCCAGCCTATGGCTTTAGGCTAGCTGTTAAATATGTGACCCAGCATTAGCTCAGCATCTGTCAGAGCAAGAGACCAGGTAATTTCTAAGAACAGGGTTCTAGCGATGGGACTGCCCATTTCCTCAGCTGCAGAGGAGGAAAGGGAAAGGGTAGGCCTGTAGACTAACGCTGTTTACACCCTTGTTCTGTCAAAGCAATTAAAGATCACTTGTGTTGAGGCTGTGGGGTAATGAGCACTCAGCCTTTGGGGTACCTGTTCCTAAAGTGGGCCAAAAGAGCCCTCCCTACATGATGCCCCAGTTTTTGCTTTATTCCTATTTCATACAGCTTCTCGGGGGAGTGAGCAGGCTACACTCCAGAACACCGGTATGGGAAGGAGTGGGAGAGGAAGCCAGCTTTGGCCTCACAGGCACAGCTTGCAAGCAGGCCTTGGGTCTGCCCAGAGGCACAGCTTGCAAGCAGCCCTACAGAGAAGGTGACTCAAAGGATACACCAGTCACCAGTGCAAGACTCTTCGCTCCTGTTTTTCTCTTTTTTTTTTTTTTGAGACGGAGTCTCGGTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCACTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCACCACCACGCCCAGCCAATTTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCGGCTCCTGTTTTTCAACTGGCCCTAGAGGAGGGGTCCGCAAACCAGGCTGGCAGGCCAGTTCTGGCCATACCTGTTCATTTCCATACTGTCTGGCTGCTTTCAAGCCACAGTGGCAAAGTTGAAGAGTTGCACTAGACTGTACGGCCTGCAAAACTGAAACCATTGACTGTCAACCACTTCTCTACAACATACTCAACTGTTGCAGATTACAGGGACTCAGGAACCGAATTAGACAATTTTCATGGCGAGGAGAAGCCCAGTTAGCTTTCCTAAACGGGCAGGAAGTGTGAAGGAGGGAATCTCCTGATGCCCTGCTCCAGGGGTGGCACACACCTGCAAGAGGCTGTCGGCTGTCTGCTGCTGCTGAGGTTTCTGACCTGCAATCGTAGATCCTGTCACCACAGACTAATCACTTAGTCCACTGGCTCCTTCCTGTGGGATAAAGGTTTAAATTCATGCAAAAGAATCTTTCTGGGCTTCTGCCCACACTAGAGTCCCTATACAATGGAGTTCCAGGAAACCACCTTCAAAAATCTCCTGGGTTTTCTTGCCTCCAAATTTTCTTCAGCTAAAAAACAATAAAGATGAGCTGGAAAGAAAAGGTCTGCTAAAGGGAACCCATTCTACAGAAGTGACTTGCAAGAGCCTATTTCACTCATGCCGTCCAGTGAAACAGGCCCGAAAGTGATGCCCAGTGGGAACAGCAGAAAGGGGAGGGAGTTTCCAGAAGGAATTGCTGTAGTCAGCTGTTAAGCTATTTCTTCATTTCAGGATATCCAGGATATTCTTAACTTTTATTTTTTTGAGACGGAGTCTCGCACTGTCTCCCGGGCTGGAGTGCAGTGGCGCGATAGCTCACTGCAACCTCCG
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GCATGTTGGTTACCCTTCATGAAACTCTTTTGCGTTATCTCCCTAGATTTTGAGCTCCAAGGGCAGTGGTTCTCATACAGGGGACATTTGGCTGTTGTCTGGAGCCATTTTTTGATTGTCAAAACCCAGATAGGGGTTGCTAGTGGCATCTTGTGGGTGGAGGCCAGGGAAGCTGCTACACATCCATCAGTACACAGGACAGCCCCCACAATAAAGAATTACCTAGCCCAAATGTCAGTAGCGCCAAGGCTGAGAAATCCCATCCTGAAAGGACCATACTCTAGCTCTTTTAGTGGCTAGTATAGTCCTGGGCATATGAATAGTCAAGATATGATGAAAGATGGTATTTGTATGGACTGGAGTATCAAGCAAGGCTCGACCCCCAAAGGGCTGGAGGCGTGGCCAGAAGGACAGGGCCACTTTGGCTTCTGGATTCCTGTGGCAGGGACCTTTTCCTAGGACTCCCTGGCCAATGTGGGGCTATGAACAGCACTGAGTATCCCCCTAAGTGACCTTGGGGTGCTCTGTGACCCTCAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGGAGCTTTTGCTACAGCTGCACCAGCAGTACCCAGGTGATATCGGCTGCTTTGCCATCTACTTCCTGAACCTGCTTACCCTGAAGCCTGGGGAGGCCATGTTTCTGGAGGCCAACGTACCCCATGCCTACCTGAAAGGAGGTGAGCCACATTTCAGCAGTGAGCCCCACTGCCATCCCTGCTGGGCCCTGTTTCCCTATCTGGACAAAGGAAGGAGAAGGGTGGTCAAGGAGACCCCCAAGGACCTTGCAGCTCTGACCTCTGAGGGTTCCTGGGCTCAGCAAGCAACAGCTGGTAGGGATGATGAATGCATTTAGCATTGAACACGCCTTGAATCCTGACACCAACCCTGTGATGCCATGCTACTCTGATTTTAAGTCCTGCCAGTCAGTGTGGGAACCACAATTTGAACGCAGGCTATATTGGATCAAAGCTGTTGTTCTGTCACAGCCTTTGTATGTCTGTCCTACCTACCAGGGATTTTTACACTAAAATATGCATGTTGCCATGGAAGGATGCCACCTTTCGACTGTTGGCTGCTTATCCACACATGCCTCATGCACAGGATTCTGGGGTAGAAGTGGGAGACTACAGAGTTGGGGCTCCCCAACCCCCAGGGGTTAACATGACTCCCCTCTGACAATAATGGGTGACCTGTCACCTGTTTTTGGTATTTGATATCTTAACCCCATTCTCCCAGAGAATACAATTCATGGAAATTTTTACCTAACTTGGCATGGGGTTCATGGAGCTCAGGTTAGGAGGCCCAGAACTGGAGAGCTAAGGCATACTTCATCAGCTTAGCACATGACGACTGTCTCTCCAGACTGCGTGGAGTGCATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCCAAGTTCATTGATGTGCCAACCCTGTGTGAAATGCTCAGCTATACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACACGGAGTCAGGAAGACCCCTACCTCTCAATCTATGACCCCCCTGTACCAGACTTCACCATTATGAAGACGGAGGTGAGTGAGGGGCTATGATGGGTGTCCTTCGTGTGCCATGAAAATCTCTGGCAAGGGTCACGATGTGGAGGACACCTGGGGCTGGGTTTCCTGTCAAGCCCACTTGGCGGAGGGTGGCCCCAGGGCCTGCCCATTCCTTCCTGTACCAGGGACCAGGCCTCTATGCTGACTGAGCCTGGGTTGTGCGAGAAGGTGGCAGAGCTCTCCCTCGTGCCCTGGGGACTGTCCTGGGCCCATGAGCTGATGAGAGCAGAGTCTGAGCTGCACTGCCTTATCATTTCTTCCTGCCCAGGTCCCTGGCTCTGTCACTGAATACAAGGTCTTGGCACTGGACTCTGCCAGCATCCTCCTGATGGTACAGGGGACAGTAATAGCCAGCACACCCACAACCCAGACACCAATCCCTCTGCAACGTGGTGGCGTGCTCTTCATTGGGGCCAATGGGAGTGTCTCACTGAAGCTTACTGAGCCGAAGGACCTGCTGATATTCCGTGCCTGCTGTCTGCTGTAAAGGCTGCAGCCTCCCCAGCTCTCCTCTGCCAGCCACCCTAAATTCCAGCCAACCTCACCTCCTCGGGCCCAGCTCAAGCCCCCTTCCTTGCTCTGGACCCCTTAGGTATACCCTGGAAGAGCTGGGGTGGGGGAGGAGGGAGCGTGAAGGTAGTGACTCCTGAACACACCCAGGTGGAACCATCTTTGGGGAGGAGAGGCCCGTGTGAGGGGTCTGATACTCCCTTTGTCTTCCCTCTCTACTCCTCGCTACACCTGAGCCAGGCTCTTGCCAACTCTGTTCCAGCCTATGGCTTTAGGCTAGCTGTTAAATATGTGACCCAGCATTAGCTCAGCATCTGTCAGAGCAAGAGACCAGGTAATTTCTAAGAACAGGGTTCTAGCGATGGGACTGCCCATTTCCTCAGCTGCAGAGGAGGAAAGGGAAAGGGTAGGCCTGTAGACTAACGCTGTTTACACCCTTGTTCTGTCAAAGCAATTAAAGATCACTTGTGTTGAGGCTGTGGGGTAATGAGCACTCAGCCTTTGGGGTACCTGTTCCTAAAGTGGGCCAAAAGAGCCCTCCCTACATGATGCCCCAGTTTTTGCTTTATTCCTATTTCATACAGCTTCTCGGGGGAGTGAGCAGGCTACACTCCAGAACACCGGTATGGGAAGGAGTGGGAGAGGAAGCCAGCTTTGGCCTCACAGGCACAGCTTGCAAGCAGGCCTTGGGTCTGCCCAGAGGCACAGCTTGCAAGCAGCCCTACAGAGAAGGTGACTCAAAGGATACACCAGTCACCAGTGCAAGACTCTTCGCTCCTGTTTTTCTCTTTTTTTTTTTTTTGAGACGGAGTCTCGGTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCACTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCACCACCACGCCCAGCCAATTTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCGGCTCCTGTTTTTCAACTGGCCCTAGAGGAGGGGTCCGCAAACCAGGCTGGCAGGCCAGTTCTGGCCATACCTGTTCATTTCCATACTGTCTGGCTGCTTTCAAGCCACAGTGGCAAAGTTGAAGAGTTGCACTAGACTGTACGGCCTGCAAAACTGAAACCATTGACTGTCAACCACTTCTCTACAACATACTCAACTGTTGCAGATTACAGGGACTCAGGAACCGAATTAGACAATTTTCATGGCGAGGAGAAGCCCAGTTAGCTTTCCTAAACGGGCAGGAAGTGTGAAGGAGGGAATCTCCTGATGCCCTGCTCCAGGGGTGGCACACACCTGCAAGAGGCTGTCGGCTGTCTGCTGCTGCTGAGGTTTCTGACCTGCAATCGTAGATCCTGTCACCACAGACTAATCACTTAGTCCACTGGCTCCTTCCTGTGGGATAAAGGTTTAAATTCATGCAAAAGAATCTTTCTGGGCTTCTGCCCACACTAGAGTCCCTATACAATGGAGTTCCAGGAAACCACCTTCAAAAATCTCCTGGGTTTTCTTGCCTCCAAATTTTCTTCAGCTAAAAAACAATAAAGATGAGCTGGAAAGAAAAGGTCTGCTAAAGGGAACCCATTCTACAGAAGTGACTTGCAAGAGCCTATTTCACTCATGCCGTCCAGTGAAACAGGCCCGAAAGTGATGCCCAGTGGGAACAGCAGAAAGGGGAGGGAGTTTCCAGAAGGAATTGCTGTAGTCAGCTGTTAAGCTATTTCTTCATTTCAGGATATCCAGGATATTCTTAACTTTTATTTTTTTGAGACGGAGTCTCGCACTGTCTCCCGGGCTGGAGTGCAGTGGCGCGATAGCTCACTGCAACCTCCG
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Task1_train_21730
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Given this variant in gene MPI (mannose phosphate isomerase) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; MPI-congenital disorder of glycosylation
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TTTGAGCTCCAAGGGCAGTGGTTCTCATACAGGGGACATTTGGCTGTTGTCTGGAGCCATTTTTTGATTGTCAAAACCCAGATAGGGGTTGCTAGTGGCATCTTGTGGGTGGAGGCCAGGGAAGCTGCTACACATCCATCAGTACACAGGACAGCCCCCACAATAAAGAATTACCTAGCCCAAATGTCAGTAGCGCCAAGGCTGAGAAATCCCATCCTGAAAGGACCATACTCTAGCTCTTTTAGTGGCTAGTATAGTCCTGGGCATATGAATAGTCAAGATATGATGAAAGATGGTATTTGTATGGACTGGAGTATCAAGCAAGGCTCGACCCCCAAAGGGCTGGAGGCGTGGCCAGAAGGACAGGGCCACTTTGGCTTCTGGATTCCTGTGGCAGGGACCTTTTCCTAGGACTCCCTGGCCAATGTGGGGCTATGAACAGCACTGAGTATCCCCCTAAGTGACCTTGGGGTGCTCTGTGACCCTCAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGGAGCTTTTGCTACAGCTGCACCAGCAGTACCCAGGTGATATCGGCTGCTTTGCCATCTACTTCCTGAACCTGCTTACCCTGAAGCCTGGGGAGGCCATGTTTCTGGAGGCCAACGTACCCCATGCCTACCTGAAAGGAGGTGAGCCACATTTCAGCAGTGAGCCCCACTGCCATCCCTGCTGGGCCCTGTTTCCCTATCTGGACAAAGGAAGGAGAAGGGTGGTCAAGGAGACCCCCAAGGACCTTGCAGCTCTGACCTCTGAGGGTTCCTGGGCTCAGCAAGCAACAGCTGGTAGGGATGATGAATGCATTTAGCATTGAACACGCCTTGAATCCTGACACCAACCCTGTGATGCCATGCTACTCTGATTTTAAGTCCTGCCAGTCAGTGTGGGAACCACAATTTGAACGCAGGCTATATTGGATCAAAGCTGTTGTTCTGTCACAGCCTTTGTATGTCTGTCCTACCTACCAGGGATTTTTACACTAAAATATGCATGTTGCCATGGAAGGATGCCACCTTTCGACTGTTGGCTGCTTATCCACACATGCCTCATGCACAGGATTCTGGGGTAGAAGTGGGAGACTACAGAGTTGGGGCTCCCCAACCCCCAGGGGTTAACATGACTCCCCTCTGACAATAATGGGTGACCTGTCACCTGTTTTTGGTATTTGATATCTTAACCCCATTCTCCCAGAGAATACAATTCATGGAAATTTTTACCTAACTTGGCATGGGGTTCATGGAGCTCAGGTTAGGAGGCCCAGAACTGGAGAGCTAAGGCATACTTCATCAGCTTAGCACATGACGACTGTCTCTCCAGACTGCGTGGAGTGCATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCCAAGTTCATTGATGTGCCAACCCTGTGTGAAATGCTCAGCTATACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACACGGAGTCAGGAAGACCCCTACCTCTCAATCTATGACCCCCCTGTACCAGACTTCACCATTATGAAGACGGAGGTGAGTGAGGGGCTATGATGGGTGTCCTTCGTGTGCCATGAAAATCTCTGGCAAGGGTCACGATGTGGAGGACACCTGGGGCTGGGTTTCCTGTCAAGCCCACTTGGCGGAGGGTGGCCCCAGGGCCTGCCCATTCCTTCCTGTACCAGGGACCAGGCCTCTATGCTGACTGAGCCTGGGTTGTGCGAGAAGGTGGCAGAGCTCTCCCTCGTGCCCTGGGGACTGTCCTGGGCCCATGAGCTGATGAGAGCAGAGTCTGAGCTGCACTGCCTTATCATTTCTTCCTGCCCAGGTCCCTGGCTCTGTCACTGAATACAAGGTCTTGGCACTGGACTCTGCCAGCATCCTCCTGATGGTACAGGGGACAGTAATAGCCAGCACACCCACAACCCAGACACCAATCCCTCTGCAACGTGGTGGCGTGCTCTTCATTGGGGCCAATGAGAGTGTCTCACTGAAGCTTACTGAGCCGAAGGACCTGCTGATATTCCGTGCCTGCTGTCTGCTGTAAAGGCTGCAGCCTCCCCAGCTCTCCTCTGCCAGCCACCCTAAATTCCAGCCAACCTCACCTCCTCGGGCCCAGCTCAAGCCCCCTTCCTTGCTCTGGACCCCTTAGGTATACCCTGGAAGAGCTGGGGTGGGGGAGGAGGGAGCGTGAAGGTAGTGACTCCTGAACACACCCAGGTGGAACCATCTTTGGGGAGGAGAGGCCCGTGTGAGGGGTCTGATACTCCCTTTGTCTTCCCTCTCTACTCCTCGCTACACCTGAGCCAGGCTCTTGCCAACTCTGTTCCAGCCTATGGCTTTAGGCTAGCTGTTAAATATGTGACCCAGCATTAGCTCAGCATCTGTCAGAGCAAGAGACCAGGTAATTTCTAAGAACAGGGTTCTAGCGATGGGACTGCCCATTTCCTCAGCTGCAGAGGAGGAAAGGGAAAGGGTAGGCCTGTAGACTAACGCTGTTTACACCCTTGTTCTGTCAAAGCAATTAAAGATCACTTGTGTTGAGGCTGTGGGGTAATGAGCACTCAGCCTTTGGGGTACCTGTTCCTAAAGTGGGCCAAAAGAGCCCTCCCTACATGATGCCCCAGTTTTTGCTTTATTCCTATTTCATACAGCTTCTCGGGGGAGTGAGCAGGCTACACTCCAGAACACCGGTATGGGAAGGAGTGGGAGAGGAAGCCAGCTTTGGCCTCACAGGCACAGCTTGCAAGCAGGCCTTGGGTCTGCCCAGAGGCACAGCTTGCAAGCAGCCCTACAGAGAAGGTGACTCAAAGGATACACCAGTCACCAGTGCAAGACTCTTCGCTCCTGTTTTTCTCTTTTTTTTTTTTTTGAGACGGAGTCTCGGTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCACTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCACCACCACGCCCAGCCAATTTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCGGCTCCTGTTTTTCAACTGGCCCTAGAGGAGGGGTCCGCAAACCAGGCTGGCAGGCCAGTTCTGGCCATACCTGTTCATTTCCATACTGTCTGGCTGCTTTCAAGCCACAGTGGCAAAGTTGAAGAGTTGCACTAGACTGTACGGCCTGCAAAACTGAAACCATTGACTGTCAACCACTTCTCTACAACATACTCAACTGTTGCAGATTACAGGGACTCAGGAACCGAATTAGACAATTTTCATGGCGAGGAGAAGCCCAGTTAGCTTTCCTAAACGGGCAGGAAGTGTGAAGGAGGGAATCTCCTGATGCCCTGCTCCAGGGGTGGCACACACCTGCAAGAGGCTGTCGGCTGTCTGCTGCTGCTGAGGTTTCTGACCTGCAATCGTAGATCCTGTCACCACAGACTAATCACTTAGTCCACTGGCTCCTTCCTGTGGGATAAAGGTTTAAATTCATGCAAAAGAATCTTTCTGGGCTTCTGCCCACACTAGAGTCCCTATACAATGGAGTTCCAGGAAACCACCTTCAAAAATCTCCTGGGTTTTCTTGCCTCCAAATTTTCTTCAGCTAAAAAACAATAAAGATGAGCTGGAAAGAAAAGGTCTGCTAAAGGGAACCCATTCTACAGAAGTGACTTGCAAGAGCCTATTTCACTCATGCCGTCCAGTGAAACAGGCCCGAAAGTGATGCCCAGTGGGAACAGCAGAAAGGGGAGGGAGTTTCCAGAAGGAATTGCTGTAGTCAGCTGTTAAGCTATTTCTTCATTTCAGGATATCCAGGATATTCTTAACTTTTATTTTTTTGAGACGGAGTCTCGCACTGTCTCCCGGGCTGGAGTGCAGTGGCGCGATAGCTCACTGCAACCTCCGCCCACTGGGTTCAAGCGATTCTTCTGCCTCAGCTCCTGAGTAGCTGGG
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TTTGAGCTCCAAGGGCAGTGGTTCTCATACAGGGGACATTTGGCTGTTGTCTGGAGCCATTTTTTGATTGTCAAAACCCAGATAGGGGTTGCTAGTGGCATCTTGTGGGTGGAGGCCAGGGAAGCTGCTACACATCCATCAGTACACAGGACAGCCCCCACAATAAAGAATTACCTAGCCCAAATGTCAGTAGCGCCAAGGCTGAGAAATCCCATCCTGAAAGGACCATACTCTAGCTCTTTTAGTGGCTAGTATAGTCCTGGGCATATGAATAGTCAAGATATGATGAAAGATGGTATTTGTATGGACTGGAGTATCAAGCAAGGCTCGACCCCCAAAGGGCTGGAGGCGTGGCCAGAAGGACAGGGCCACTTTGGCTTCTGGATTCCTGTGGCAGGGACCTTTTCCTAGGACTCCCTGGCCAATGTGGGGCTATGAACAGCACTGAGTATCCCCCTAAGTGACCTTGGGGTGCTCTGTGACCCTCAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGGAGCTTTTGCTACAGCTGCACCAGCAGTACCCAGGTGATATCGGCTGCTTTGCCATCTACTTCCTGAACCTGCTTACCCTGAAGCCTGGGGAGGCCATGTTTCTGGAGGCCAACGTACCCCATGCCTACCTGAAAGGAGGTGAGCCACATTTCAGCAGTGAGCCCCACTGCCATCCCTGCTGGGCCCTGTTTCCCTATCTGGACAAAGGAAGGAGAAGGGTGGTCAAGGAGACCCCCAAGGACCTTGCAGCTCTGACCTCTGAGGGTTCCTGGGCTCAGCAAGCAACAGCTGGTAGGGATGATGAATGCATTTAGCATTGAACACGCCTTGAATCCTGACACCAACCCTGTGATGCCATGCTACTCTGATTTTAAGTCCTGCCAGTCAGTGTGGGAACCACAATTTGAACGCAGGCTATATTGGATCAAAGCTGTTGTTCTGTCACAGCCTTTGTATGTCTGTCCTACCTACCAGGGATTTTTACACTAAAATATGCATGTTGCCATGGAAGGATGCCACCTTTCGACTGTTGGCTGCTTATCCACACATGCCTCATGCACAGGATTCTGGGGTAGAAGTGGGAGACTACAGAGTTGGGGCTCCCCAACCCCCAGGGGTTAACATGACTCCCCTCTGACAATAATGGGTGACCTGTCACCTGTTTTTGGTATTTGATATCTTAACCCCATTCTCCCAGAGAATACAATTCATGGAAATTTTTACCTAACTTGGCATGGGGTTCATGGAGCTCAGGTTAGGAGGCCCAGAACTGGAGAGCTAAGGCATACTTCATCAGCTTAGCACATGACGACTGTCTCTCCAGACTGCGTGGAGTGCATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCCAAGTTCATTGATGTGCCAACCCTGTGTGAAATGCTCAGCTATACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACACGGAGTCAGGAAGACCCCTACCTCTCAATCTATGACCCCCCTGTACCAGACTTCACCATTATGAAGACGGAGGTGAGTGAGGGGCTATGATGGGTGTCCTTCGTGTGCCATGAAAATCTCTGGCAAGGGTCACGATGTGGAGGACACCTGGGGCTGGGTTTCCTGTCAAGCCCACTTGGCGGAGGGTGGCCCCAGGGCCTGCCCATTCCTTCCTGTACCAGGGACCAGGCCTCTATGCTGACTGAGCCTGGGTTGTGCGAGAAGGTGGCAGAGCTCTCCCTCGTGCCCTGGGGACTGTCCTGGGCCCATGAGCTGATGAGAGCAGAGTCTGAGCTGCACTGCCTTATCATTTCTTCCTGCCCAGGTCCCTGGCTCTGTCACTGAATACAAGGTCTTGGCACTGGACTCTGCCAGCATCCTCCTGATGGTACAGGGGACAGTAATAGCCAGCACACCCACAACCCAGACACCAATCCCTCTGCAACGTGGTGGCGTGCTCTTCATTGGGGCCAATGAGAGTGTCTCACTGAAGCTTACTGAGCCGAAGGACCTGCTGATATTCCATGCCTGCTGTCTGCTGTAAAGGCTGCAGCCTCCCCAGCTCTCCTCTGCCAGCCACCCTAAATTCCAGCCAACCTCACCTCCTCGGGCCCAGCTCAAGCCCCCTTCCTTGCTCTGGACCCCTTAGGTATACCCTGGAAGAGCTGGGGTGGGGGAGGAGGGAGCGTGAAGGTAGTGACTCCTGAACACACCCAGGTGGAACCATCTTTGGGGAGGAGAGGCCCGTGTGAGGGGTCTGATACTCCCTTTGTCTTCCCTCTCTACTCCTCGCTACACCTGAGCCAGGCTCTTGCCAACTCTGTTCCAGCCTATGGCTTTAGGCTAGCTGTTAAATATGTGACCCAGCATTAGCTCAGCATCTGTCAGAGCAAGAGACCAGGTAATTTCTAAGAACAGGGTTCTAGCGATGGGACTGCCCATTTCCTCAGCTGCAGAGGAGGAAAGGGAAAGGGTAGGCCTGTAGACTAACGCTGTTTACACCCTTGTTCTGTCAAAGCAATTAAAGATCACTTGTGTTGAGGCTGTGGGGTAATGAGCACTCAGCCTTTGGGGTACCTGTTCCTAAAGTGGGCCAAAAGAGCCCTCCCTACATGATGCCCCAGTTTTTGCTTTATTCCTATTTCATACAGCTTCTCGGGGGAGTGAGCAGGCTACACTCCAGAACACCGGTATGGGAAGGAGTGGGAGAGGAAGCCAGCTTTGGCCTCACAGGCACAGCTTGCAAGCAGGCCTTGGGTCTGCCCAGAGGCACAGCTTGCAAGCAGCCCTACAGAGAAGGTGACTCAAAGGATACACCAGTCACCAGTGCAAGACTCTTCGCTCCTGTTTTTCTCTTTTTTTTTTTTTTGAGACGGAGTCTCGGTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCACTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCACCACCACGCCCAGCCAATTTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCGGCTCCTGTTTTTCAACTGGCCCTAGAGGAGGGGTCCGCAAACCAGGCTGGCAGGCCAGTTCTGGCCATACCTGTTCATTTCCATACTGTCTGGCTGCTTTCAAGCCACAGTGGCAAAGTTGAAGAGTTGCACTAGACTGTACGGCCTGCAAAACTGAAACCATTGACTGTCAACCACTTCTCTACAACATACTCAACTGTTGCAGATTACAGGGACTCAGGAACCGAATTAGACAATTTTCATGGCGAGGAGAAGCCCAGTTAGCTTTCCTAAACGGGCAGGAAGTGTGAAGGAGGGAATCTCCTGATGCCCTGCTCCAGGGGTGGCACACACCTGCAAGAGGCTGTCGGCTGTCTGCTGCTGCTGAGGTTTCTGACCTGCAATCGTAGATCCTGTCACCACAGACTAATCACTTAGTCCACTGGCTCCTTCCTGTGGGATAAAGGTTTAAATTCATGCAAAAGAATCTTTCTGGGCTTCTGCCCACACTAGAGTCCCTATACAATGGAGTTCCAGGAAACCACCTTCAAAAATCTCCTGGGTTTTCTTGCCTCCAAATTTTCTTCAGCTAAAAAACAATAAAGATGAGCTGGAAAGAAAAGGTCTGCTAAAGGGAACCCATTCTACAGAAGTGACTTGCAAGAGCCTATTTCACTCATGCCGTCCAGTGAAACAGGCCCGAAAGTGATGCCCAGTGGGAACAGCAGAAAGGGGAGGGAGTTTCCAGAAGGAATTGCTGTAGTCAGCTGTTAAGCTATTTCTTCATTTCAGGATATCCAGGATATTCTTAACTTTTATTTTTTTGAGACGGAGTCTCGCACTGTCTCCCGGGCTGGAGTGCAGTGGCGCGATAGCTCACTGCAACCTCCGCCCACTGGGTTCAAGCGATTCTTCTGCCTCAGCTCCTGAGTAGCTGGG
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Task1_train_21731
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The variant affects gene COX5A (cytochrome c oxidase subunit 5A), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 20
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AAGTTTTTTCATTTGCCTCCAATTTGAGACCTTAACTGAATTAACTACCAGTGCTGAATGGATTGATAGCCTACAGAACCCTTAATTATCTTACCCATTATAGATAAAGTAATGTCACACTTTTGCTGTTAACGGACCTTAAGTTTCTTTCTTACAGACCACAGTATCTTTTCATGGAGAGCTGTACTTTGAGAATACATATGTCCAGGGCTGGAGACTTTTCACTGTAATATATAGTTACACCTGTGCTGTCACAAGGTTCCTTAGGAACGAATAAGAAGTCAAAAGAACTAAGAAAGTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCAACTGAGGTCAGGAGTTTGAGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTTAAAATACAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGACCTCGGAGGTTGCAGTGAGCTGAGATCACGCAATGATTGCACTCCAGCTTGGGCGACAGAGTGAGACTCTGTCTCGAAAAAATAAATAAACTCAGAAATTATGACCAAATAAGAAGGAGGAAAATTAGTATATATCCTCCTATGTTTTCATATAATGTATATATATATTTTTTGAGATGGAGTTTCTCTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTTGGCTCACTGTAACCTCTGCCTCCCGGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCGACTAGCTGGGATTACAGGCATGCACCCCCACGCCCGGCTAATTTTTTATTTTCAGTAGAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGACACAAATATGTTTAAAGTCAAACACATTTCTACAGTATCAACAGTTGTGTAGTATAACCAGTTCTGGGAAGCTCCCTCTTAAGAATTCCTAACATTTCGTATGACAAATAGCAAGAAGATGAATACACTTTGTAGTTAAATCTTTATATATCCTTTATTATTTCCTTGATAAATTCCTTTCTTTTTTTTTTTAGAGACGGAGTTTCTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTGGGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCTGTCTTGGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACATTGCATGATCCACCCGCCTTAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACACACGGCCAAGATAAATTCTTAAAAAAGAAAGAAAAAAAAAAAAGAGAGAAAAAAGAAAAAAGATAAATTCTTAAATGGAATTGCTGAACAAAAGTGTATCATGTACAATTTGTAAGGCCTTGAATAAATGCTGCCAAAGTAGCCTCTAGAAAGATTTTAACTGCAATGTACATTCCTTCTAGTTATATAAGGACTCATTTTAGGCATTTTAACAAATTCAAAAATACAGAATATTCTGATACCTCAGCAATAGCCCACTCATTTACAGAACAATTTTAGCATTATTATTTCACTGACCTTAACAACCTCTAGGATACGAACTGTACTAGCAAAATCATTTAACCGTCTGCATGCCCGCAAAGCAGCATCAATGATTTTGGGCTCTGGAACCATATCATAGGTAACAAGTGTGTTTATCCCTGCAAAATTAAAAAGAAGGGCCATGTCAACCTCGAAGAGCCTCACTTAAACTATGAGTTATTTATATTTTTACTGAATCACTGATGTATGATCTTATCTGTCTGGGTCTCCATTCTCTTACCTATAAAATGAGAGAAACCTACCTTTAACAAATTCTAGATAATAAGATCACAGTGGATCTCCCTTAGTGAATCAGTGGAAAGAAAGAACTATGCAACAGCACGCAGATTGAAGGAAAAAATCCTGAGTTTTTTTTTTCCCCTTTGAGAACAAGAGGGTCATTTTCAACTCCTAACTTTTTTTTTGGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGCCACCTCAGCTTACTGCAACCGCTGCCACCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCGGGTGCCACCAAGCCCAGCTAATTTTAGTATTTTTAGTAGAGACGGGGTTTCAGCATCTTGGCCTGGCTGGCCTTGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACATCCGGCCCTCCTATCTTTAACTCTTAGTACAATGAACACATTTTGGATGCTTTAAAAGAGATTCAAGGCTGGGCTCAGGTGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGTCAACATGGAGAAACCCTGTCTCTATTAAAGATACAAAATTGGCCGGGCGTGGTGGCACATGCCTGTAATTCCAGCTACTCTCGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGTGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCTAGCCTGGGCAATAAGAGAGAAACTCCATCTCAAACAAAACAAAACAAACAAACAAAAAAACCAAAATAAAAGAGATTCAACTGGAAAACAGCCTAAAAACAGCCAGAGAAATGCGTAGAGTTAATGAAGCCTAAATGAGGACATTAAGGAGATATTATAGAGAAACATTAGTACACAGACTCATAAACATTCAACCAGAAAATGATTGGGCATGATTACTTTCAGATCTGCACAAAATGACACATAATAAAATTTAAGATTCTCTTAATGGGAATACATAATTGTTCTTTTTATTACTTCTACTCCAGATTGTTCAGTAAGAATTCTATTGGTTGTAGCAAAAGGGAATCATTACATTTCTGCAGAGAAGTTTAAAGCACTTAGGTTTCTTGCTTTTATTACTTTAAAATATTTAAACAAAGGATACCAGTGAATACGATAGTCATTGAGATTGAATTTTTGGTATGAGATAAATTACCCTACACCTAATTCTATTTTTTCATGTTAAGTGTGCATCTGCAAATTTAGGAAAGACAAGTTCTAACTTACTTAGATACTTATTCATGGCAAAACAATGCAAAAATAACAAAAAACCCAAACCATCACCCAAAGGGGAAGGGAACCAAATGACTGCTTTGTGTAAATTCTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGCGCCCGCCACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCCTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGTGCTATGTAAATTGTTTGAAATGTACAAAACTGTTACCTTTTGCTCATCTAGCCTTATTGCTATAGCAGTGGTTTTCAATTAAGGGTGACTTCATCCCTCAGGAGACACTGGGTAATGCCTAGAAACATTTTTGGTTGTCATGATACGAATG
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AAGTTTTTTCATTTGCCTCCAATTTGAGACCTTAACTGAATTAACTACCAGTGCTGAATGGATTGATAGCCTACAGAACCCTTAATTATCTTACCCATTATAGATAAAGTAATGTCACACTTTTGCTGTTAACGGACCTTAAGTTTCTTTCTTACAGACCACAGTATCTTTTCATGGAGAGCTGTACTTTGAGAATACATATGTCCAGGGCTGGAGACTTTTCACTGTAATATATAGTTACACCTGTGCTGTCACAAGGTTCCTTAGGAACGAATAAGAAGTCAAAAGAACTAAGAAAGTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCAACTGAGGTCAGGAGTTTGAGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTTAAAATACAAAATTAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGACCTCGGAGGTTGCAGTGAGCTGAGATCACGCAATGATTGCACTCCAGCTTGGGCGACAGAGTGAGACTCTGTCTCGAAAAAATAAATAAACTCAGAAATTATGACCAAATAAGAAGGAGGAAAATTAGTATATATCCTCCTATGTTTTCATATAATGTATATATATATTTTTTGAGATGGAGTTTCTCTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTTGGCTCACTGTAACCTCTGCCTCCCGGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCGACTAGCTGGGATTACAGGCATGCACCCCCACGCCCGGCTAATTTTTTATTTTCAGTAGAGATGGGGTTTCTCCATCTTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGACACAAATATGTTTAAAGTCAAACACATTTCTACAGTATCAACAGTTGTGTAGTATAACCAGTTCTGGGAAGCTCCCTCTTAAGAATTCCTAACATTTCGTATGACAAATAGCAAGAAGATGAATACACTTTGTAGTTAAATCTTTATATATCCTTTATTATTTCCTTGATAAATTCCTTTCTTTTTTTTTTTAGAGACGGAGTTTCTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTGGGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCTGTCTTGGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACATTGCATGATCCACCCGCCTTAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCATCACACACGGCCAAGATAAATTCTTAAAAAAGAAAGAAAAAAAAAAAAGAGAGAAAAAAGAAAAAAGATAAATTCTTAAATGGAATTGCTGAACAAAAGTGTATCATGTACAATTTGTAAGGCCTTGAATAAATGCTGCCAAAGTAGCCTCTAGAAAGATTTTAACTGCAATGTACATTCCTTCTAGTTATATAAGGACTCATTTTAGGCATTTTAACAAATTCAAAAATACAGAATATTCTGATACCTCAGCAATAGCCCACTCATTTACAGAACAATTTTAGCATTATTATTTCACTGACCTTAACAACCTCTAGGATACAAACTGTACTAGCAAAATCATTTAACCGTCTGCATGCCCGCAAAGCAGCATCAATGATTTTGGGCTCTGGAACCATATCATAGGTAACAAGTGTGTTTATCCCTGCAAAATTAAAAAGAAGGGCCATGTCAACCTCGAAGAGCCTCACTTAAACTATGAGTTATTTATATTTTTACTGAATCACTGATGTATGATCTTATCTGTCTGGGTCTCCATTCTCTTACCTATAAAATGAGAGAAACCTACCTTTAACAAATTCTAGATAATAAGATCACAGTGGATCTCCCTTAGTGAATCAGTGGAAAGAAAGAACTATGCAACAGCACGCAGATTGAAGGAAAAAATCCTGAGTTTTTTTTTTCCCCTTTGAGAACAAGAGGGTCATTTTCAACTCCTAACTTTTTTTTTGGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGCCACCTCAGCTTACTGCAACCGCTGCCACCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCGGGTGCCACCAAGCCCAGCTAATTTTAGTATTTTTAGTAGAGACGGGGTTTCAGCATCTTGGCCTGGCTGGCCTTGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACATCCGGCCCTCCTATCTTTAACTCTTAGTACAATGAACACATTTTGGATGCTTTAAAAGAGATTCAAGGCTGGGCTCAGGTGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGTCAACATGGAGAAACCCTGTCTCTATTAAAGATACAAAATTGGCCGGGCGTGGTGGCACATGCCTGTAATTCCAGCTACTCTCGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGTGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCTAGCCTGGGCAATAAGAGAGAAACTCCATCTCAAACAAAACAAAACAAACAAACAAAAAAACCAAAATAAAAGAGATTCAACTGGAAAACAGCCTAAAAACAGCCAGAGAAATGCGTAGAGTTAATGAAGCCTAAATGAGGACATTAAGGAGATATTATAGAGAAACATTAGTACACAGACTCATAAACATTCAACCAGAAAATGATTGGGCATGATTACTTTCAGATCTGCACAAAATGACACATAATAAAATTTAAGATTCTCTTAATGGGAATACATAATTGTTCTTTTTATTACTTCTACTCCAGATTGTTCAGTAAGAATTCTATTGGTTGTAGCAAAAGGGAATCATTACATTTCTGCAGAGAAGTTTAAAGCACTTAGGTTTCTTGCTTTTATTACTTTAAAATATTTAAACAAAGGATACCAGTGAATACGATAGTCATTGAGATTGAATTTTTGGTATGAGATAAATTACCCTACACCTAATTCTATTTTTTCATGTTAAGTGTGCATCTGCAAATTTAGGAAAGACAAGTTCTAACTTACTTAGATACTTATTCATGGCAAAACAATGCAAAAATAACAAAAAACCCAAACCATCACCCAAAGGGGAAGGGAACCAAATGACTGCTTTGTGTAAATTCTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGACTACAGGCGCCCGCCACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCCTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGTGCTATGTAAATTGTTTGAAATGTACAAAACTGTTACCTTTTGCTCATCTAGCCTTATTGCTATAGCAGTGGTTTTCAATTAAGGGTGACTTCATCCCTCAGGAGACACTGGGTAATGCCTAGAAACATTTTTGGTTGTCATGATACGAATG
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Task1_train_21732
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Assess the clinical impact of this variant on gene MAN2C1, NEIL1 (mannosidase alpha class 2C member 1| nei like DNA glycosylase 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Congenital disorder of deglycosylation 2
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GAGGAGGAAGGGGCGACAGGCAGCCTCTGGTGGGCTTTCCTCATCACTCCCAGAAACTGGCTCTACAGGAGAGGATGGGATGGTGGCCTAGGAGCGCGTGTACAAAGGTGGGAGAAAGGCTGCCATGGCAGCCCCTGGAGTCTTAGCTGACCATCTTGCCTGTTCTTCCCCCAGGCCACTGCAGACCCCGGAAGGTCAAGGCTGACATCCCATCCTTGGAACCAGAGGGGACCTCAGCCTCTTAGCAGGAGGCTCTCCTTGCTTGCACTCACCCTTTCTTATTGTCTTGCCCTGCATCTGGGGGTCTGAATTTTTGGGAGCAGGCAATATCTGAAGGTGCAAACAGGCCCTACGGCTGTTCCCTGCACAACTCTCATGGTTTTAATTGTACCCCATCTTCCACATCTTTAAAGCTCATGTGAAAAATGCTGCATTTTTAATAAACTGATACATTTGAACTTCTTGGCACCTCTTGGTCTGAGATGGCCAGGTAGGAAGGGCCTGCTGTCCGGTCCTGGTGACAGAAGGCCCAGCTCCTCACAAGGCAAACTGAGCCCCCATCCCAGTCCTCAAGGCTCTGACTCTATCAGAGGACAGTTTGCCTCTGCAAGGACAGCCCCTCAGAGGTGGTACAAAGACCCTGGCCCCAGGCAGCCCAGGAGCCAGAGCTCCTCCAGTCCAGATTCTCCAGGGTCCAGGGCTGCCCCCTCATCCTGGCAGGAGCCAGGCAAAACCCACCCTTCGGCCCCTCCCCAGCCCCAGGCCCAGGCCCTTTACCTGCTGGCACAGGGGAGGGGCTTCTCAACTCATGGTCTCTTCACTGGCTTTTGGTGGCTCGAGGTCCCCAGTCTCTCCTGTGGGGGCTGCAACCCAGACCCTGCACGCACAGGTACCTTAGGATCTTGCCCCTACCCACCAAATACCTGGGAAGCCATCCCACCCCAGACTTCCCACCCCCACCCCAAGCGTGAGGATGGGCCCTAAGGGGACTGAGCAGCAGGGTTCCCGATCCAAGGATTTATTCCACAAGAAAAGACTGATCCCTGCTTTAGGCTGGGGAAGCAGAAATTAGGAGTCCCCAGAGCCTTCTACAAACAAAACCCCAGCCCCAGGGACTCAGTGTGGCGGAGGCTGAAGCACGAGCAACAGGGACAGCACTTGGAAGGGAGAAAAGGTGAGCTTCAGGCGGTTGTCCCGAAGGGTCAAGTGGCCAGCAGGGTCTGGTCGCTCCAAGAGATCGCAGCTGGAGAACAGGAGGGGCCATGAAGGCTCTGCGAGGGCGAGACTCGACCCCCGCCCCAATCCCACACCGCCACTCACAGGATGGCCTCCTGAACCGGCAGCGACAAGTGCAGCCAGCAGTCCACGTGGCTGCCGTGGGCCTCATACAGCCTCAGGACCAGCGAGCGGCGCTGGGGGCTGCTCTCCGCCTGCAGAGGAACACGTCTGGTGGGAGGGGCCGAGGGCAGGCCCAGTTCGGAACCCCGTCCCCAGCACGTCCCACCCCTTGCCTGCTTGACGGTCTCCAATACGACCGCGGGTGAAGACACGGAAAACGCACTCCAGGAGGTGGCGGGCGCTGGGCTGGGGGCTGGCAGAGCCAACAGGGGGAAGTTTAGGCTGTAGGCAGCTTGGATAACGCCAGCATCCTGGAAAGAGCCTGGGGTACGACCAGGAAACAATGCTGGTGGAGAATGGGGGCTACCCTCCCCTGTCCCTAGAAGGGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATACTTGCAGTCGTTGAGCAGGGCCAGCCCAAAGCCGTGTTCTGACAGATCCATCCAGCGATGGGCCCACACCTGGAGGGCAGATCCAAGACCCACTTGGTGGCCCTGTGCCCCTCTTTGTGCTCCCAGACTCCAGAGCTCCTGTCACTAGGCCGAGCACAAGCTCTAGAACCACACAACTGAACTCCAGCTCCCACTGTACGGGGCCCTGGGCATGCCACCCAACCTGCCTAAGCCTCAGTTTCCTTATCTGTGAAACGGGAATAAATAATAGTACTCACCCCATCGAATGATCATGAGTATCAAATTAAATGTAAAACTTTGTTTTTTTCACACAGGATCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCGCCCTCCAGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGACATGTGCCACCACGCCCGGCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTAAAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATAACAGGACATGTGCCACCACGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGATGGGGGTTCACCATGTTGTCTATGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTATAGGCCTGAGAACACTGCGCCTGGCCAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGTCACCACGCCCGGCCCAATTTTTGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTTGCCAATGTAAAGCATTTAGTGCAATGCCTGGCACACACGTTAGGAAGCAGCAAATGTTGATTATCCTCTTCCTCCCCAGCCTGTTCCACACAAGCAGTCTCCCCAGCCAGGGAGGAGTCCAAGGCCACTCCCACCCTGCCATGTCAGACCTCAAATCGAGCCCAGTCCCAAGAGGTATTGTAGTGGGTAGGTCGCTGCAGGTGCCCAAACTGGATCTCATAGGTGGCCTGGGAACTCCGCACGCGAGCAGGGAACTCCACCTTCAGGAACTTGTGGGCCTCATGCCAGTGTACCTGGGAGTGGGAAGGAGGGTGGGAGTCAGGGAAGGAAGAGACACACCAAGGCCTGGGGCTGGCCCCTCCTTACCAAGCACACTTGGGGAAAACAGCCACCCCCTACCCCCCGACTACCTCGGTGTGGAAGCGGACATAGGGGCAGCCAACGTCCAGCACAACCTCCTGGCTAAGCCGACTGTTGGGGCTGATCTGTAGCAAGAACCAGGCGCTGCCCCGCAGGCCGCCCTCGGTGCCCACTGCCAGGGTCCCTGCCTGGCCCAGCACAGGCTTCCTATGGGACAGGGGTGGACATACTGATCCAGAGCAGCCTGTGTTCCCACCACCTCCACCATCCCCACATGCTGCCCAGCCTATACCGTGTCTCCAGGTGGTAGTCCATGACGTCCCATGCATCCCAGTACAAGGGGACATCATCAAATAGCACAAACTGGTTCCCCACGGCGCCCTCAGCAATGGCCTCCCTGGAAGGACATGGGATTGGTGCTGTACAACCAACTGACCTCGCTGTCTCCAGCTGCTCTTGGTGGGGTAGGGTGGA
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GAGGAGGAAGGGGCGACAGGCAGCCTCTGGTGGGCTTTCCTCATCACTCCCAGAAACTGGCTCTACAGGAGAGGATGGGATGGTGGCCTAGGAGCGCGTGTACAAAGGTGGGAGAAAGGCTGCCATGGCAGCCCCTGGAGTCTTAGCTGACCATCTTGCCTGTTCTTCCCCCAGGCCACTGCAGACCCCGGAAGGTCAAGGCTGACATCCCATCCTTGGAACCAGAGGGGACCTCAGCCTCTTAGCAGGAGGCTCTCCTTGCTTGCACTCACCCTTTCTTATTGTCTTGCCCTGCATCTGGGGGTCTGAATTTTTGGGAGCAGGCAATATCTGAAGGTGCAAACAGGCCCTACGGCTGTTCCCTGCACAACTCTCATGGTTTTAATTGTACCCCATCTTCCACATCTTTAAAGCTCATGTGAAAAATGCTGCATTTTTAATAAACTGATACATTTGAACTTCTTGGCACCTCTTGGTCTGAGATGGCCAGGTAGGAAGGGCCTGCTGTCCGGTCCTGGTGACAGAAGGCCCAGCTCCTCACAAGGCAAACTGAGCCCCCATCCCAGTCCTCAAGGCTCTGACTCTATCAGAGGACAGTTTGCCTCTGCAAGGACAGCCCCTCAGAGGTGGTACAAAGACCCTGGCCCCAGGCAGCCCAGGAGCCAGAGCTCCTCCAGTCCAGATTCTCCAGGGTCCAGGGCTGCCCCCTCATCCTGGCAGGAGCCAGGCAAAACCCACCCTTCGGCCCCTCCCCAGCCCCAGGCCCAGGCCCTTTACCTGCTGGCACAGGGGAGGGGCTTCTCAACTCATGGTCTCTTCACTGGCTTTTGGTGGCTCGAGGTCCCCAGTCTCTCCTGTGGGGGCTGCAACCCAGACCCTGCACGCACAGGTACCTTAGGATCTTGCCCCTACCCACCAAATACCTGGGAAGCCATCCCACCCCAGACTTCCCACCCCCACCCCAAGCGTGAGGATGGGCCCTAAGGGGACTGAGCAGCAGGGTTCCCGATCCAAGGATTTATTCCACAAGAAAAGACTGATCCCTGCTTTAGGCTGGGGAAGCAGAAATTAGGAGTCCCCAGAGCCTTCTACAAACAAAACCCCAGCCCCAGGGACTCAGTGTGGCGGAGGCTGAAGCACGAGCAACAGGGACAGCACTTGGAAGGGAGAAAAGGTGAGCTTCAGGCGGTTGTCCCGAAGGGTCAAGTGGCCAGCAGGGTCTGGTCGCTCCAAGAGATCGCAGCTGGAGAACAGGAGGGGCCATGAAGGCTCTGCGAGGGCGAGACTCGACCCCCGCCCCAATCCCACACCGCCACTCACAGGATGGCCTCCTGAACCGGCAGCGACAAGTGCAGCCAGCAGTCCACGTGGCTGCCGTGGGCCTCATACAGCCTCAGGACCAGCGAGCGGCGCTGGGGGCTGCTCTCCGCCTGCAGAGGAACACGTCTGGTGGGAGGGGCCGAGGGCAGGCCCAGTTCGGAACCCCGTCCCCAGCACGTCCCACCCCTTGCCTGCTTGACGGTCTCCAATACGACCGCGGGTGAAGACACGGAAAACGCACTCCAGGAGGTGGCGGGCGCTGGGCTGGGGGCTGGCAGAGCCAACAGGGGGAAGTTTAGGCTGTAGGCAGCTTGGATAACGCCAGCATCCTGGAAAGAGCCTGGGGTACGACCAGGAAACAATGCTGGTGGAGAATGGGGGCTACCCTCCCCTGTCCCTAGAAGGGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATACTTGGAGTCGTTGAGCAGGGCCAGCCCAAAGCCGTGTTCTGACAGATCCATCCAGCGATGGGCCCACACCTGGAGGGCAGATCCAAGACCCACTTGGTGGCCCTGTGCCCCTCTTTGTGCTCCCAGACTCCAGAGCTCCTGTCACTAGGCCGAGCACAAGCTCTAGAACCACACAACTGAACTCCAGCTCCCACTGTACGGGGCCCTGGGCATGCCACCCAACCTGCCTAAGCCTCAGTTTCCTTATCTGTGAAACGGGAATAAATAATAGTACTCACCCCATCGAATGATCATGAGTATCAAATTAAATGTAAAACTTTGTTTTTTTCACACAGGATCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCGCCCTCCAGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGACATGTGCCACCACGCCCGGCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTAAAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATAACAGGACATGTGCCACCACGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGATGGGGGTTCACCATGTTGTCTATGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTATAGGCCTGAGAACACTGCGCCTGGCCAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGTCACCACGCCCGGCCCAATTTTTGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTTGCCAATGTAAAGCATTTAGTGCAATGCCTGGCACACACGTTAGGAAGCAGCAAATGTTGATTATCCTCTTCCTCCCCAGCCTGTTCCACACAAGCAGTCTCCCCAGCCAGGGAGGAGTCCAAGGCCACTCCCACCCTGCCATGTCAGACCTCAAATCGAGCCCAGTCCCAAGAGGTATTGTAGTGGGTAGGTCGCTGCAGGTGCCCAAACTGGATCTCATAGGTGGCCTGGGAACTCCGCACGCGAGCAGGGAACTCCACCTTCAGGAACTTGTGGGCCTCATGCCAGTGTACCTGGGAGTGGGAAGGAGGGTGGGAGTCAGGGAAGGAAGAGACACACCAAGGCCTGGGGCTGGCCCCTCCTTACCAAGCACACTTGGGGAAAACAGCCACCCCCTACCCCCCGACTACCTCGGTGTGGAAGCGGACATAGGGGCAGCCAACGTCCAGCACAACCTCCTGGCTAAGCCGACTGTTGGGGCTGATCTGTAGCAAGAACCAGGCGCTGCCCCGCAGGCCGCCCTCGGTGCCCACTGCCAGGGTCCCTGCCTGGCCCAGCACAGGCTTCCTATGGGACAGGGGTGGACATACTGATCCAGAGCAGCCTGTGTTCCCACCACCTCCACCATCCCCACATGCTGCCCAGCCTATACCGTGTCTCCAGGTGGTAGTCCATGACGTCCCATGCATCCCAGTACAAGGGGACATCATCAAATAGCACAAACTGGTTCCCCACGGCGCCCTCAGCAATGGCCTCCCTGGAAGGACATGGGATTGGTGCTGTACAACCAACTGACCTCGCTGTCTCCAGCTGCTCTTGGTGGGGTAGGGTGGA
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Task1_train_21733
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The gene MAN2C1 (mannosidase alpha class 2C member 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Congenital disorder of deglycosylation 2
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GGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATACTTGCAGTCGTTGAGCAGGGCCAGCCCAAAGCCGTGTTCTGACAGATCCATCCAGCGATGGGCCCACACCTGGAGGGCAGATCCAAGACCCACTTGGTGGCCCTGTGCCCCTCTTTGTGCTCCCAGACTCCAGAGCTCCTGTCACTAGGCCGAGCACAAGCTCTAGAACCACACAACTGAACTCCAGCTCCCACTGTACGGGGCCCTGGGCATGCCACCCAACCTGCCTAAGCCTCAGTTTCCTTATCTGTGAAACGGGAATAAATAATAGTACTCACCCCATCGAATGATCATGAGTATCAAATTAAATGTAAAACTTTGTTTTTTTCACACAGGATCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCGCCCTCCAGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGACATGTGCCACCACGCCCGGCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTAAAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATAACAGGACATGTGCCACCACGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGATGGGGGTTCACCATGTTGTCTATGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTATAGGCCTGAGAACACTGCGCCTGGCCAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGTCACCACGCCCGGCCCAATTTTTGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTTGCCAATGTAAAGCATTTAGTGCAATGCCTGGCACACACGTTAGGAAGCAGCAAATGTTGATTATCCTCTTCCTCCCCAGCCTGTTCCACACAAGCAGTCTCCCCAGCCAGGGAGGAGTCCAAGGCCACTCCCACCCTGCCATGTCAGACCTCAAATCGAGCCCAGTCCCAAGAGGTATTGTAGTGGGTAGGTCGCTGCAGGTGCCCAAACTGGATCTCATAGGTGGCCTGGGAACTCCGCACGCGAGCAGGGAACTCCACCTTCAGGAACTTGTGGGCCTCATGCCAGTGTACCTGGGAGTGGGAAGGAGGGTGGGAGTCAGGGAAGGAAGAGACACACCAAGGCCTGGGGCTGGCCCCTCCTTACCAAGCACACTTGGGGAAAACAGCCACCCCCTACCCCCCGACTACCTCGGTGTGGAAGCGGACATAGGGGCAGCCAACGTCCAGCACAACCTCCTGGCTAAGCCGACTGTTGGGGCTGATCTGTAGCAAGAACCAGGCGCTGCCCCGCAGGCCGCCCTCGGTGCCCACTGCCAGGGTCCCTGCCTGGCCCAGCACAGGCTTCCTATGGGACAGGGGTGGACATACTGATCCAGAGCAGCCTGTGTTCCCACCACCTCCACCATCCCCACATGCTGCCCAGCCTATACCGTGTCTCCAGGTGGTAGTCCATGACGTCCCATGCATCCCAGTACAAGGGGACATCATCAAATAGCACAAACTGGTTCCCCACGGCGCCCTCAGCAATGGCCTCCCTGGAAGGACATGGGATTGGTGCTGTACAACCAACTGACCTCGCTGTCTCCAGCTGCTCTTGGTGGGGTAGGGTGGAGTGAGTAGACCCAGTGGACAGGGGACTACTGCCCAGCCTGCCCTGCTCCATGTGTGGGTTCCAGCCCAGAGCCACTGGTGGGCTGCTGTGGGCAGTGTTGTGGCAAGGGGAGAGAGGAAATGGCCTGGGGTCTACTTGCCAGGCACTGGGAAAGGGCAATGAGGATTTGGCACCTGCCAGAGGCCACCAGGACCAAGGACGTCAGGCGACCAGTTGGGTCCAGCTTCACTCGGATGATGCCATTGTCCAGAGTCACGGAGCCATCAGTCTTTGTGGGAGGAGGCCTTGAGGCTGAGTCTGTAGGGGCTTCCCACACCAAAAGTCTTCCCACCCCAACCCCAGCCCCGCCTCACCACTTGCTCCAGACAGGGGAGCTCAGGACCCTCAGTTGTAAGAAAGTATCCCAGCACAGTTCCTGCCCCCCAGGGCATGCAGGACTCACCTCTTGCACTACGAACACAGGCTGCTGGGGCAGCAGGGGCTGCAGTGAGGTGGGGGGAGGAACAGGAGCATAGCCCATGCTGGGCACTGTCACCAGGGCTGGGGGTGAGGCCTGGGCATCAGTGCAGCCTTCCTGACCTTTCAGGAAGCTTGCGCAGGTGGGGATGGGTTGGTGGAAGATGTGCTACTACTCTCCAGTCAGGGGCACCCAGATCCCTCGGGGTATCCCAGGCCTGATCTGTCTGGCCTCCATCCTTCCTGCTGCAGTAGCAACCCTTCCCCTCAGCTCGTACCTAGGCTGTGGGCCCCGCCCGGTTTGGGCAGGGCCATCACTTCGATCCGCTTCCAGGGCAGTGTGTTGACGATGAGGAGGCCCTCAGGACCTGGCTCCCCAGCACACAGGGCTGCGGCTGCAGCGCTGAGCAGTGTATTGCCATGGGAACGGATGTCTGAGGAAAGACTGGCTGGTCATAGGTGGGCAACAGGTCTGGAATGTGCCCATGGGTATCCCACAGGGGACACTCTGGGCTCAGCCCTGGGGTTGGAGAGAGCAGGCAGGACTATTGTGAGCCTAACCTTCATAATGGCACATGGCTTCCTCTGCCACCATCTGGATGCAGCTTCCAGTCACCACATCATGGAACTGGTTCAGAAGAAGGAGCCTGCAGGGGCCAAGGGCAGGGATGGGAAGGCTGGGAGGGGCAGGCACAGAGGTAACTGCAGTGAGCAGTCAGGTGGATGGCAGGGACAGAACTGGGCTGACCTCCAGAGGTGCTGCAGCTGGGCTGCTGGGTATAGGAACTGGGCACTGCGGGCCAGGGCCAGGCTACTGAGCAGCTCCACGTCGTGCAGGATCCGCTCACATTCCCGGTTCCCCTTCTTGATCTGAGCCCAGGATGGGAAGATTAGTCTGGAGCCTGCTTAGCTGTCCCAGGACACCTTCCAAAGCCCTCCCTTGCTCAGAATCCCTGAGGACTCACCAAGGGCCTCGTGGAGAAGGCCTCTGGCGGGTGACCTGCCTTAAATGCCTTCCCTCTTCTCCCCGCAGCCCAAACCCTTCTTTCTTCAGGGGTTTCTGCCTCCTTCAAGCTTTCTTGACCAACCCAGGTCTTGAACTTCTCTCCTCCAAACTTCTCTTCCCCTAGATCTGGCCTGGGCTCTGTCCCCTGCTGCCTTCTCTGACCCTCTGCAGATCAAGGGCACACCCTCCCTGCACAGCCCTGCAACCTCCCCCTGACCTGGGCATGGGTGGTGTATGTGCCATTGTGCAGCTCCAAGAAGAG
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GGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATACTTGCAGTCGTTGAGCAGGGCCAGCCCAAAGCCGTGTTCTGACAGATCCATCCAGCGATGGGCCCACACCTGGAGGGCAGATCCAAGACCCACTTGGTGGCCCTGTGCCCCTCTTTGTGCTCCCAGACTCCAGAGCTCCTGTCACTAGGCCGAGCACAAGCTCTAGAACCACACAACTGAACTCCAGCTCCCACTGTACGGGGCCCTGGGCATGCCACCCAACCTGCCTAAGCCTCAGTTTCCTTATCTGTGAAACGGGAATAAATAATAGTACTCACCCCATCGAATGATCATGAGTATCAAATTAAATGTAAAACTTTGTTTTTTTCACACAGGATCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCGCCCTCCAGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGACATGTGCCACCACGCCCGGCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTAAAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATAACAGGACATGTGCCACCACGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGATGGGGGTTCACCATGTTGTCTATGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTATAGGCCTGAGAACACTGCGCCTGGCCAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGTCACCACGCCCGGCCCAATTTTTGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTTGCCAATGTAAAGCATTTAGTGCAATGCCTGGCACACACGTTAGGAAGCAGCAAATGTTGATTATCCTCTTCCTCCCCAGCCTGTTCCACACAAGCAGTCTCCCCAGCCAGGGAGGAGTCCAAGGCCACTCCCACCCTGCCATGTCAGACCTCAAATCGAGCCCAGTCCCAAGAGGTATTGTAGTGGGTAGGTCGCTGCAGGTGCCCAAACTGGATCTCATAGGTGGCCTGGGAACTCCGCACGCGAGCAGGGAACTCCACCTTCAGGAACTTGTGGGCCTCATGCCAGTGTACCTGGGAGTGGGAAGGAGGGTGGGAGTCAGGGAAGGAAGAGACACACCAAGGCCTGGGGCTGGCCCCTCCTTACCAAGCACACTTGGGGAAAACAGCCACCCCCTACCCCCCGACTACCTCGGTGTGGAAGCGGACATAGGGGCAGCCAACGTCCAGCACAACCTCCTGGCTAAGCCGACTGTTGGGGCTGATCTGTAGCAAGAACCAGGCGCTGCCCTGCAGGCCGCCCTCGGTGCCCACTGCCAGGGTCCCTGCCTGGCCCAGCACAGGCTTCCTATGGGACAGGGGTGGACATACTGATCCAGAGCAGCCTGTGTTCCCACCACCTCCACCATCCCCACATGCTGCCCAGCCTATACCGTGTCTCCAGGTGGTAGTCCATGACGTCCCATGCATCCCAGTACAAGGGGACATCATCAAATAGCACAAACTGGTTCCCCACGGCGCCCTCAGCAATGGCCTCCCTGGAAGGACATGGGATTGGTGCTGTACAACCAACTGACCTCGCTGTCTCCAGCTGCTCTTGGTGGGGTAGGGTGGAGTGAGTAGACCCAGTGGACAGGGGACTACTGCCCAGCCTGCCCTGCTCCATGTGTGGGTTCCAGCCCAGAGCCACTGGTGGGCTGCTGTGGGCAGTGTTGTGGCAAGGGGAGAGAGGAAATGGCCTGGGGTCTACTTGCCAGGCACTGGGAAAGGGCAATGAGGATTTGGCACCTGCCAGAGGCCACCAGGACCAAGGACGTCAGGCGACCAGTTGGGTCCAGCTTCACTCGGATGATGCCATTGTCCAGAGTCACGGAGCCATCAGTCTTTGTGGGAGGAGGCCTTGAGGCTGAGTCTGTAGGGGCTTCCCACACCAAAAGTCTTCCCACCCCAACCCCAGCCCCGCCTCACCACTTGCTCCAGACAGGGGAGCTCAGGACCCTCAGTTGTAAGAAAGTATCCCAGCACAGTTCCTGCCCCCCAGGGCATGCAGGACTCACCTCTTGCACTACGAACACAGGCTGCTGGGGCAGCAGGGGCTGCAGTGAGGTGGGGGGAGGAACAGGAGCATAGCCCATGCTGGGCACTGTCACCAGGGCTGGGGGTGAGGCCTGGGCATCAGTGCAGCCTTCCTGACCTTTCAGGAAGCTTGCGCAGGTGGGGATGGGTTGGTGGAAGATGTGCTACTACTCTCCAGTCAGGGGCACCCAGATCCCTCGGGGTATCCCAGGCCTGATCTGTCTGGCCTCCATCCTTCCTGCTGCAGTAGCAACCCTTCCCCTCAGCTCGTACCTAGGCTGTGGGCCCCGCCCGGTTTGGGCAGGGCCATCACTTCGATCCGCTTCCAGGGCAGTGTGTTGACGATGAGGAGGCCCTCAGGACCTGGCTCCCCAGCACACAGGGCTGCGGCTGCAGCGCTGAGCAGTGTATTGCCATGGGAACGGATGTCTGAGGAAAGACTGGCTGGTCATAGGTGGGCAACAGGTCTGGAATGTGCCCATGGGTATCCCACAGGGGACACTCTGGGCTCAGCCCTGGGGTTGGAGAGAGCAGGCAGGACTATTGTGAGCCTAACCTTCATAATGGCACATGGCTTCCTCTGCCACCATCTGGATGCAGCTTCCAGTCACCACATCATGGAACTGGTTCAGAAGAAGGAGCCTGCAGGGGCCAAGGGCAGGGATGGGAAGGCTGGGAGGGGCAGGCACAGAGGTAACTGCAGTGAGCAGTCAGGTGGATGGCAGGGACAGAACTGGGCTGACCTCCAGAGGTGCTGCAGCTGGGCTGCTGGGTATAGGAACTGGGCACTGCGGGCCAGGGCCAGGCTACTGAGCAGCTCCACGTCGTGCAGGATCCGCTCACATTCCCGGTTCCCCTTCTTGATCTGAGCCCAGGATGGGAAGATTAGTCTGGAGCCTGCTTAGCTGTCCCAGGACACCTTCCAAAGCCCTCCCTTGCTCAGAATCCCTGAGGACTCACCAAGGGCCTCGTGGAGAAGGCCTCTGGCGGGTGACCTGCCTTAAATGCCTTCCCTCTTCTCCCCGCAGCCCAAACCCTTCTTTCTTCAGGGGTTTCTGCCTCCTTCAAGCTTTCTTGACCAACCCAGGTCTTGAACTTCTCTCCTCCAAACTTCTCTTCCCCTAGATCTGGCCTGGGCTCTGTCCCCTGCTGCCTTCTCTGACCCTCTGCAGATCAAGGGCACACCCTCCCTGCACAGCCCTGCAACCTCCCCCTGACCTGGGCATGGGTGGTGTATGTGCCATTGTGCAGCTCCAAGAAGAG
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Task1_train_21734
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This sequence variant lies in MAN2C1 (mannosidase alpha class 2C member 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not specified
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GGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATACTTGCAGTCGTTGAGCAGGGCCAGCCCAAAGCCGTGTTCTGACAGATCCATCCAGCGATGGGCCCACACCTGGAGGGCAGATCCAAGACCCACTTGGTGGCCCTGTGCCCCTCTTTGTGCTCCCAGACTCCAGAGCTCCTGTCACTAGGCCGAGCACAAGCTCTAGAACCACACAACTGAACTCCAGCTCCCACTGTACGGGGCCCTGGGCATGCCACCCAACCTGCCTAAGCCTCAGTTTCCTTATCTGTGAAACGGGAATAAATAATAGTACTCACCCCATCGAATGATCATGAGTATCAAATTAAATGTAAAACTTTGTTTTTTTCACACAGGATCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCGCCCTCCAGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGACATGTGCCACCACGCCCGGCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTAAAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATAACAGGACATGTGCCACCACGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGATGGGGGTTCACCATGTTGTCTATGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTATAGGCCTGAGAACACTGCGCCTGGCCAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGTCACCACGCCCGGCCCAATTTTTGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTTGCCAATGTAAAGCATTTAGTGCAATGCCTGGCACACACGTTAGGAAGCAGCAAATGTTGATTATCCTCTTCCTCCCCAGCCTGTTCCACACAAGCAGTCTCCCCAGCCAGGGAGGAGTCCAAGGCCACTCCCACCCTGCCATGTCAGACCTCAAATCGAGCCCAGTCCCAAGAGGTATTGTAGTGGGTAGGTCGCTGCAGGTGCCCAAACTGGATCTCATAGGTGGCCTGGGAACTCCGCACGCGAGCAGGGAACTCCACCTTCAGGAACTTGTGGGCCTCATGCCAGTGTACCTGGGAGTGGGAAGGAGGGTGGGAGTCAGGGAAGGAAGAGACACACCAAGGCCTGGGGCTGGCCCCTCCTTACCAAGCACACTTGGGGAAAACAGCCACCCCCTACCCCCCGACTACCTCGGTGTGGAAGCGGACATAGGGGCAGCCAACGTCCAGCACAACCTCCTGGCTAAGCCGACTGTTGGGGCTGATCTGTAGCAAGAACCAGGCGCTGCCCCGCAGGCCGCCCTCGGTGCCCACTGCCAGGGTCCCTGCCTGGCCCAGCACAGGCTTCCTATGGGACAGGGGTGGACATACTGATCCAGAGCAGCCTGTGTTCCCACCACCTCCACCATCCCCACATGCTGCCCAGCCTATACCGTGTCTCCAGGTGGTAGTCCATGACGTCCCATGCATCCCAGTACAAGGGGACATCATCAAATAGCACAAACTGGTTCCCCACGGCGCCCTCAGCAATGGCCTCCCTGGAAGGACATGGGATTGGTGCTGTACAACCAACTGACCTCGCTGTCTCCAGCTGCTCTTGGTGGGGTAGGGTGGAGTGAGTAGACCCAGTGGACAGGGGACTACTGCCCAGCCTGCCCTGCTCCATGTGTGGGTTCCAGCCCAGAGCCACTGGTGGGCTGCTGTGGGCAGTGTTGTGGCAAGGGGAGAGAGGAAATGGCCTGGGGTCTACTTGCCAGGCACTGGGAAAGGGCAATGAGGATTTGGCACCTGCCAGAGGCCACCAGGACCAAGGACGTCAGGCGACCAGTTGGGTCCAGCTTCACTCGGATGATGCCATTGTCCAGAGTCACGGAGCCATCAGTCTTTGTGGGAGGAGGCCTTGAGGCTGAGTCTGTAGGGGCTTCCCACACCAAAAGTCTTCCCACCCCAACCCCAGCCCCGCCTCACCACTTGCTCCAGACAGGGGAGCTCAGGACCCTCAGTTGTAAGAAAGTATCCCAGCACAGTTCCTGCCCCCCAGGGCATGCAGGACTCACCTCTTGCACTACGAACACAGGCTGCTGGGGCAGCAGGGGCTGCAGTGAGGTGGGGGGAGGAACAGGAGCATAGCCCATGCTGGGCACTGTCACCAGGGCTGGGGGTGAGGCCTGGGCATCAGTGCAGCCTTCCTGACCTTTCAGGAAGCTTGCGCAGGTGGGGATGGGTTGGTGGAAGATGTGCTACTACTCTCCAGTCAGGGGCACCCAGATCCCTCGGGGTATCCCAGGCCTGATCTGTCTGGCCTCCATCCTTCCTGCTGCAGTAGCAACCCTTCCCCTCAGCTCGTACCTAGGCTGTGGGCCCCGCCCGGTTTGGGCAGGGCCATCACTTCGATCCGCTTCCAGGGCAGTGTGTTGACGATGAGGAGGCCCTCAGGACCTGGCTCCCCAGCACACAGGGCTGCGGCTGCAGCGCTGAGCAGTGTATTGCCATGGGAACGGATGTCTGAGGAAAGACTGGCTGGTCATAGGTGGGCAACAGGTCTGGAATGTGCCCATGGGTATCCCACAGGGGACACTCTGGGCTCAGCCCTGGGGTTGGAGAGAGCAGGCAGGACTATTGTGAGCCTAACCTTCATAATGGCACATGGCTTCCTCTGCCACCATCTGGATGCAGCTTCCAGTCACCACATCATGGAACTGGTTCAGAAGAAGGAGCCTGCAGGGGCCAAGGGCAGGGATGGGAAGGCTGGGAGGGGCAGGCACAGAGGTAACTGCAGTGAGCAGTCAGGTGGATGGCAGGGACAGAACTGGGCTGACCTCCAGAGGTGCTGCAGCTGGGCTGCTGGGTATAGGAACTGGGCACTGCGGGCCAGGGCCAGGCTACTGAGCAGCTCCACGTCGTGCAGGATCCGCTCACATTCCCGGTTCCCCTTCTTGATCTGAGCCCAGGATGGGAAGATTAGTCTGGAGCCTGCTTAGCTGTCCCAGGACACCTTCCAAAGCCCTCCCTTGCTCAGAATCCCTGAGGACTCACCAAGGGCCTCGTGGAGAAGGCCTCTGGCGGGTGACCTGCCTTAAATGCCTTCCCTCTTCTCCCCGCAGCCCAAACCCTTCTTTCTTCAGGGGTTTCTGCCTCCTTCAAGCTTTCTTGACCAACCCAGGTCTTGAACTTCTCTCCTCCAAACTTCTCTTCCCCTAGATCTGGCCTGGGCTCTGTCCCCTGCTGCCTTCTCTGACCCTCTGCAGATCAAGGGCACACCCTCCCTGCACAGCCCTGCAACCTCCCCCTGACCTGGGCATGGGTGGTGTATGTGCCATTGTGCAGCTCCAAGAAGAG
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GGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATACTTGCAGTCGTTGAGCAGGGCCAGCCCAAAGCCGTGTTCTGACAGATCCATCCAGCGATGGGCCCACACCTGGAGGGCAGATCCAAGACCCACTTGGTGGCCCTGTGCCCCTCTTTGTGCTCCCAGACTCCAGAGCTCCTGTCACTAGGCCGAGCACAAGCTCTAGAACCACACAACTGAACTCCAGCTCCCACTGTACGGGGCCCTGGGCATGCCACCCAACCTGCCTAAGCCTCAGTTTCCTTATCTGTGAAACGGGAATAAATAATAGTACTCACCCCATCGAATGATCATGAGTATCAAATTAAATGTAAAACTTTGTTTTTTTCACACAGGATCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCGCCCTCCAGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGACATGTGCCACCACGCCCGGCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTAAAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATAACAGGACATGTGCCACCACGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGATGGGGGTTCACCATGTTGTCTATGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTATAGGCCTGAGAACACTGCGCCTGGCCAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGTCACCACGCCCGGCCCAATTTTTGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTTGCCAATGTAAAGCATTTAGTGCAATGCCTGGCACACACGTTAGGAAGCAGCAAATGTTGATTATCCTCTTCCTCCCCAGCCTGTTCCACACAAGCAGTCTCCCCAGCCAGGGAGGAGTCCAAGGCCACTCCCACCCTGCCATGTCAGACCTCAAATCGAGCCCAGTCCCAAGAGGTATTGTAGTGGGTAGGTCGCTGCAGGTGCCCAAACTGGATCTCATAGGTGGCCTGGGAACTCCGCACGCGAGCAGGGAACTCCACCTTCAGGAACTTGTGGGCCTCATGCCAGTGTACCTGGGAGTGGGAAGGAGGGTGGGAGTCAGGGAAGGAAGAGACACACCAAGGCCTGGGGCTGGCCCCTCCTTACCAAGCACACTTGGGGAAAACAGCCACCCCCTACCCCCCGACTACCTCGGTGTGGAAGCGGACATAGGGGCAGCCAACGTCCAGCACAACCTCCTGGCTAAGCCGACTGTTGGGGCTGATCTGTAGCAAGAACCAGGCGCTGCCCTGCAGGCCGCCCTCGGTGCCCACTGCCAGGGTCCCTGCCTGGCCCAGCACAGGCTTCCTATGGGACAGGGGTGGACATACTGATCCAGAGCAGCCTGTGTTCCCACCACCTCCACCATCCCCACATGCTGCCCAGCCTATACCGTGTCTCCAGGTGGTAGTCCATGACGTCCCATGCATCCCAGTACAAGGGGACATCATCAAATAGCACAAACTGGTTCCCCACGGCGCCCTCAGCAATGGCCTCCCTGGAAGGACATGGGATTGGTGCTGTACAACCAACTGACCTCGCTGTCTCCAGCTGCTCTTGGTGGGGTAGGGTGGAGTGAGTAGACCCAGTGGACAGGGGACTACTGCCCAGCCTGCCCTGCTCCATGTGTGGGTTCCAGCCCAGAGCCACTGGTGGGCTGCTGTGGGCAGTGTTGTGGCAAGGGGAGAGAGGAAATGGCCTGGGGTCTACTTGCCAGGCACTGGGAAAGGGCAATGAGGATTTGGCACCTGCCAGAGGCCACCAGGACCAAGGACGTCAGGCGACCAGTTGGGTCCAGCTTCACTCGGATGATGCCATTGTCCAGAGTCACGGAGCCATCAGTCTTTGTGGGAGGAGGCCTTGAGGCTGAGTCTGTAGGGGCTTCCCACACCAAAAGTCTTCCCACCCCAACCCCAGCCCCGCCTCACCACTTGCTCCAGACAGGGGAGCTCAGGACCCTCAGTTGTAAGAAAGTATCCCAGCACAGTTCCTGCCCCCCAGGGCATGCAGGACTCACCTCTTGCACTACGAACACAGGCTGCTGGGGCAGCAGGGGCTGCAGTGAGGTGGGGGGAGGAACAGGAGCATAGCCCATGCTGGGCACTGTCACCAGGGCTGGGGGTGAGGCCTGGGCATCAGTGCAGCCTTCCTGACCTTTCAGGAAGCTTGCGCAGGTGGGGATGGGTTGGTGGAAGATGTGCTACTACTCTCCAGTCAGGGGCACCCAGATCCCTCGGGGTATCCCAGGCCTGATCTGTCTGGCCTCCATCCTTCCTGCTGCAGTAGCAACCCTTCCCCTCAGCTCGTACCTAGGCTGTGGGCCCCGCCCGGTTTGGGCAGGGCCATCACTTCGATCCGCTTCCAGGGCAGTGTGTTGACGATGAGGAGGCCCTCAGGACCTGGCTCCCCAGCACACAGGGCTGCGGCTGCAGCGCTGAGCAGTGTATTGCCATGGGAACGGATGTCTGAGGAAAGACTGGCTGGTCATAGGTGGGCAACAGGTCTGGAATGTGCCCATGGGTATCCCACAGGGGACACTCTGGGCTCAGCCCTGGGGTTGGAGAGAGCAGGCAGGACTATTGTGAGCCTAACCTTCATAATGGCACATGGCTTCCTCTGCCACCATCTGGATGCAGCTTCCAGTCACCACATCATGGAACTGGTTCAGAAGAAGGAGCCTGCAGGGGCCAAGGGCAGGGATGGGAAGGCTGGGAGGGGCAGGCACAGAGGTAACTGCAGTGAGCAGTCAGGTGGATGGCAGGGACAGAACTGGGCTGACCTCCAGAGGTGCTGCAGCTGGGCTGCTGGGTATAGGAACTGGGCACTGCGGGCCAGGGCCAGGCTACTGAGCAGCTCCACGTCGTGCAGGATCCGCTCACATTCCCGGTTCCCCTTCTTGATCTGAGCCCAGGATGGGAAGATTAGTCTGGAGCCTGCTTAGCTGTCCCAGGACACCTTCCAAAGCCCTCCCTTGCTCAGAATCCCTGAGGACTCACCAAGGGCCTCGTGGAGAAGGCCTCTGGCGGGTGACCTGCCTTAAATGCCTTCCCTCTTCTCCCCGCAGCCCAAACCCTTCTTTCTTCAGGGGTTTCTGCCTCCTTCAAGCTTTCTTGACCAACCCAGGTCTTGAACTTCTCTCCTCCAAACTTCTCTTCCCCTAGATCTGGCCTGGGCTCTGTCCCCTGCTGCCTTCTCTGACCCTCTGCAGATCAAGGGCACACCCTCCCTGCACAGCCCTGCAACCTCCCCCTGACCTGGGCATGGGTGGTGTATGTGCCATTGTGCAGCTCCAAGAAGAG
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Task1_train_21735
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A change on Chromosome 15 affects gene ETFA (electron transfer flavoprotein subunit alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Multiple acyl-CoA dehydrogenase deficiency
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GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATGATCTCAATCTCCTGACCTCGTGATCCAACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCGCCCAGCCTGAATTTCTTGTAGACATATTTTTGGTTAAGAAGGTTGTGGGTCTGCTGATCTTTTATGAAATCAGACCTACAGATGTCTACTTATGTAAAATTGAAAGATTTCCACAAATAATGTGTGTGCCAGTCAGGCATGGTGGCACATACCTGCAGTCCCAGCCACTCAAGAGGCTGAAGTGGCAGGATTAATTGAGGCTAGGAGTTAGAGGCTGTGGTGTGTTATGATCATGCCTGTGACCAACCCCTGCACTCCAGCCCAGGTAACATAGCAAGACCCTGTCTCTTAAAATATATACATATATATATATATATATGCGCATGTGTGCTAGAGCTCATTAAATGTCAAGGAAGGCTCAAGCTCATCTGCTCAATAAATCCACTCTCACAGCCTAATTCGGTATGACAAGCAAACAGGCCACATGATGATGTGACTTAATTTATGAATAGTTCTAATATGTATTTTAAGCTTTAAATCTTCTTTTCTGACTTCTTTTCTGACTTCAAGTAAGTTGAGTAACACAAAACGTATTAAGCATAAGAAGAAAGACTGGTGCATTAGGTTATCAAAATTAGAAATCTCTACTCATCAAAAGAAAATGAATAGGAAGTCCTAGCATGGGAAAAATACAACACACATCTGACAAAGAATTTGTATGTAGGTTATATAAAAAACTCCTACAAAGAGAAAAGAAAAAGAAAAAGAACTCAAGTTTTCAACAGGCAAAAGACTTGAACAAATACTTCGAAACAAACTTCAGGCCGGGTGCGGTGGCTCACGCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCATGAGTTCAAGACCAGCCTGGCCAAGATGATGAAACCCCATCTCTACTAAAAATACAAAAAAATTACCTAGGCATGGTGGTGGGCGCCTGTAATCCCAGCCACTTGGGAGGCTGAGGCAGAGAACTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTACACCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCATCTCAAACAAAACAAAACAAAACAAAACAAAACAAAAAAAACTTCAAAAATAAAAAATAAGCCTTGAAAATGTTGACTACAGCATCTTAAAACTGTGAATGAATATCTCATAGAATAGAGCACTGGGATGTAAGATTTTTTTTTAATGGACAAGACTGCATATTGTTTTGAAATATATAAAAAACATGTTTTCCTGCATACTATACAAGTTTAAACTGGCTGAGACTCCTATTCACTGAAAATCTGTATCACCTAAGAAATATAAACAGTCATTATCAACTGTGATTCAACTTTGAGACCAAAATTTCCTGCTCTTCCAAGTTTTAGACAGGCTTAACTGAAGAATATTCTAGTATCACTTATCTATGTAGAACAGAATTTTCTGAAATTGATACTATAAGACAAAATACAGAAACTAGGTGTTCAGGAAGATATAAGACTAAAACTGTCATTCACAGCTCCCAATTTCAAAATTCTGTTCATTAAAATAGGTTCATTGTTCTCATTGATTTTATACTCTCTAAAGGCTTTATGGAAATAAATCTTATCAATGTGAACTTATAAATCTGAGTTGATAAAATGCTGCTTTTATCAATGTTTTATTTGATGTAATATGACTTAATTTGATAAAATGTTCCACTGCTTTAAAATACTTGAATAATAAGCTGGATTTAAGAACTGCTGGGCATTTTACTAGGATCAAGAACTACACAGACCTTGTGAAAATGACATATTCACCATGGTACTGGCTAACTGCTCAGGAACACTGAGTAAGGTAAATCACTGAGATCACTGTTCAACAAATACATACAGTACTTATCCCCATAACATTTTACACAGCATATTTTATTGCAATACTTACTGGTGCTACTATTTTTCCCGTCTGTCCAACTTGCATGTCATTGGGAACAAAGCCAGCATCAACAGCAGCACGGGAAGCACCAACTAAGGGGAAAAAATATTTGTCATTTTTTTCAAGCTCTATTATTCAGCTAGTTAGGATATTCACTGATAACTGTAAACAAAGACATTGATTTAGAATTCTAAGTACTAGTATATTTTATACAGAAAGCTTCAAGGAATAACTTCTTTTTATACCCAAGTATTTCAGATTTTAATTTGGGCTTAACTCTTCTGCATGCTTTATCAAAATGGCAGTCATAAAATTTACACTATAATGTTTAGAATGTCATTATATAATGCTCCTTTAAGTAATAACTTCACAAGTTTTGAAGAAAGGTTTTACAATATTACCTCTTGTAATACTATAAAGAGAAGATACTGGACAAAGAGTTTCATATAACAAGATGAAGGTTTAACCAGTATTTGCTATCAAATTCACAAATAAAATTTAACAGACTTTCTATTCTCATTCAACAGGAGTCAACAATGAGCCCTATACTTGGAGTAAAACAACCCCTTCCCCAGCAGGAGTCAAGAATGAGCCTCAGGCCTCTTCATCTCAAGCTGAAAAGGACAGAGGGAGCCATAGACAATACAACTAACAACCTCCAAAAACGCACAGCCTCACCACCACTATCTTGAGTCAGCCAGGACTAATCACACCCTGCCCTTCATTATGTCTGTCCCCATAAGCCCCAAACTCAAAGGTTATCCTTCATAACCCATACACTGATCCCCATAATGCTCTGCATGCTCCCTAACCTGCACCAATCTCCCATATTCCTAACCCTTACACTGTGATTTCTGGAATATGGAGCCCAATATCAGCGAAACTTAAGTTATATTAAGTTTTATTAAAATGTAAGTTTTAGAACTTAAAACTTTAAGTGTATTAAAACTCAGGTTTTATTTACCTAATAAAACTTAACTTTAAATTGGCTCCATCTGAAATTAATATAGCTACTCCTGCTTTCTTTCAATTAGCATCACCATGGTATATCTTTCTCCACTCATTTACTTTATATGTATATGTATTTTTATATTTAAAGTGGGTTTCTTGTAGACACCATATAGTTGGGTCTTACTTTTTCATCCACTATGACAATCTTTATCTTTAATTGGTGCATTTACACTACTGATGTTGAAAGTAATAACTGACACAGTTGGATTAATATCTACCATATTTGTAACGGTTTTCTATTTGTTGCCCTTGTTCTTTTTTCCTATTTTTGTCTTCCACCAACTGAGCATTTTAAATAATTTCATTTTGTCTCTTTTCTTAGCTATTAGTTGTATTTTTGTTTTACTTTAGTGCTGGTCCTAGAGTTTGCAATATTCATTTACAGCTAATCCAAGTCCACTTTCAAATAACACTTTACTACTTCACAGGTGGTGCAAGTACCACTTAATAGCAAGATAATCCTAATTCCTATCTCCTGTTTCTTACATTGTGATTCATTTCACTTATACATGAGCACATAAGTAATTGTAATACATGAGCATATGTAATTGAATACAATGTTATTATTTTAAACTGTTACCTATTAGATCAATTAAGAAAAATAAAACTTATTTTACCTTCACTCATTCCCTCTTCAATGCTCTCACTTGCTTTATATACACCAGAGTTTTTGACCTCTATCATTTCCTTCTCTCTAAAAGAACTTTTAACATTTCTTGCAAGGTAAGTCTATGACATATTCTGCCAATTTTTGTCTGAGAAAGTCTTTATTTCTCTTCCATTTTTAAAGGATAATTTCACAGGGTATAAAATCCTACATTGGTGAGTGTTTTCTCTCAGCACTTTAAACATTTTACTACACTCTCTTCTGCTTGCATGGTTTCTGAAAAGAGATCAGATCTAATTATTATCTTTGCTCTTGTACAGGTATGGTGGATTTTTTCCTCTGGCTTCAGTATTTGTTATTTTTTATTTCCTGTAGTTTGCAAATGATAGGCCTAGTTGAAGTTCTTCTGGCATTTCTCATATTTGGTGTTCTCTCAGCTTCCTAGATCTGTGGATTGG
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GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATGATCTCAATCTCCTGACCTCGTGATCCAACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCGCCCAGCCTGAATTTCTTGTAGACATATTTTTGGTTAAGAAGGTTGTGGGTCTGCTGATCTTTTATGAAATCAGACCTACAGATGTCTACTTATGTAAAATTGAAAGATTTCCACAAATAATGTGTGTGCCAGTCAGGCATGGTGGCACATACCTGCAGTCCCAGCCACTCAAGAGGCTGAAGTGGCAGGATTAATTGAGGCTAGGAGTTAGAGGCTGTGGTGTGTTATGATCATGCCTGTGACCAACCCCTGCACTCCAGCCCAGGTAACATAGCAAGACCCTGTCTCTTAAAATATATACATATATATATATATATATGCGCATGTGTGCTAGAGCTCATTAAATGTCAAGGAAGGCTCAAGCTCATCTGCTCAATAAATCCACTCTCACAGCCTAATTCGGTATGACAAGCAAACAGGCCACATGATGATGTGACTTAATTTATGAATAGTTCTAATATGTATTTTAAGCTTTAAATCTTCTTTTCTGACTTCTTTTCTGACTTCAAGTAAGTTGAGTAACACAAAACGTATTAAGCATAAGAAGAAAGACTGGTGCATTAGGTTATCAAAATTAGAAATCTCTACTCATCAAAAGAAAATGAATAGGAAGTCCTAGCATGGGAAAAATACAACACACATCTGACAAAGAATTTGTATGTAGGTTATATAAAAAACTCCTACAAAGAGAAAAGAAAAAGAAAAAGAACTCAAGTTTTCAACAGGCAAAAGACTTGAACAAATACTTCGAAACAAACTTCAGGCCGGGTGCGGTGGCTCACGCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCATGAGTTCAAGACCAGCCTGGCCAAGATGATGAAACCCCATCTCTACTAAAAATACAAAAAAATTACCTAGGCATGGTGGTGGGCGCCTGTAATCCCAGCCACTTGGGAGGCTGAGGCAGAGAACTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTACACCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCATCTCAAACAAAACAAAACAAAACAAAACAAAACAAAAAAAACTTCAAAAATAAAAAATAAGCCTTGAAAATGTTGACTACAGCATCTTAAAACTGTGAATGAATATCTCATAGAATAGAGCACTGGGATGTAAGATTTTTTTTTAATGGACAAGACTGCATATTGTTTTGAAATATATAAAAAACATGTTTTCCTGCATACTATACAAGTTTAAACTGGCTGAGACTCCTATTCACTGAAAATCTGTATCACCTAAGAAATATAAACAGTCATTATCAACTGTGATTCAACTTTGAGACCAAAATTTCCTGCTCTTCCAAGTTTTAGACAGGCTTAACTGAAGAATATTCTAGTATCACTTATCTATGTAGAACAGAATTTTCTGAAATTGATACTATAAGACAAAATACAGAAACTAGGTGTTCAGGAAGATATAAGACTAAAACTGTCATTCACAGCTCCCAATTTCAAAATTCTGTTCATTAAAATAGGTTCATTGTTCTCATTGATTTTATACTCTCTAAAGGCTTTATGGAAATAAATCTTATCAATGTGAACTTATAAATCTGAGTTGATAAAATGCTGCTTTTATCAATGTTTTATTTGATGTAATATGACTTAATTTGATAAAATGTTCCACTGCTTTAAAATACTTGAATAATAAGCTGGATTTAAGAACTGCTGGGCATTTTACTAGGATCAAGAACTACACAGACCTTGTGAAAATGACATATTCACCATGGTACTGGCTAACTGCTCAGGAACACTGAGTAAGGTAAATCACTGAGATCACTGTTCAACAAATACATACAGTACTTATCCCCATAACATTTTACACAGCATATTTTATTGCAATACTTACTGGTGCTACTATTTTTCCCATCTGTCCAACTTGCATGTCATTGGGAACAAAGCCAGCATCAACAGCAGCACGGGAAGCACCAACTAAGGGGAAAAAATATTTGTCATTTTTTTCAAGCTCTATTATTCAGCTAGTTAGGATATTCACTGATAACTGTAAACAAAGACATTGATTTAGAATTCTAAGTACTAGTATATTTTATACAGAAAGCTTCAAGGAATAACTTCTTTTTATACCCAAGTATTTCAGATTTTAATTTGGGCTTAACTCTTCTGCATGCTTTATCAAAATGGCAGTCATAAAATTTACACTATAATGTTTAGAATGTCATTATATAATGCTCCTTTAAGTAATAACTTCACAAGTTTTGAAGAAAGGTTTTACAATATTACCTCTTGTAATACTATAAAGAGAAGATACTGGACAAAGAGTTTCATATAACAAGATGAAGGTTTAACCAGTATTTGCTATCAAATTCACAAATAAAATTTAACAGACTTTCTATTCTCATTCAACAGGAGTCAACAATGAGCCCTATACTTGGAGTAAAACAACCCCTTCCCCAGCAGGAGTCAAGAATGAGCCTCAGGCCTCTTCATCTCAAGCTGAAAAGGACAGAGGGAGCCATAGACAATACAACTAACAACCTCCAAAAACGCACAGCCTCACCACCACTATCTTGAGTCAGCCAGGACTAATCACACCCTGCCCTTCATTATGTCTGTCCCCATAAGCCCCAAACTCAAAGGTTATCCTTCATAACCCATACACTGATCCCCATAATGCTCTGCATGCTCCCTAACCTGCACCAATCTCCCATATTCCTAACCCTTACACTGTGATTTCTGGAATATGGAGCCCAATATCAGCGAAACTTAAGTTATATTAAGTTTTATTAAAATGTAAGTTTTAGAACTTAAAACTTTAAGTGTATTAAAACTCAGGTTTTATTTACCTAATAAAACTTAACTTTAAATTGGCTCCATCTGAAATTAATATAGCTACTCCTGCTTTCTTTCAATTAGCATCACCATGGTATATCTTTCTCCACTCATTTACTTTATATGTATATGTATTTTTATATTTAAAGTGGGTTTCTTGTAGACACCATATAGTTGGGTCTTACTTTTTCATCCACTATGACAATCTTTATCTTTAATTGGTGCATTTACACTACTGATGTTGAAAGTAATAACTGACACAGTTGGATTAATATCTACCATATTTGTAACGGTTTTCTATTTGTTGCCCTTGTTCTTTTTTCCTATTTTTGTCTTCCACCAACTGAGCATTTTAAATAATTTCATTTTGTCTCTTTTCTTAGCTATTAGTTGTATTTTTGTTTTACTTTAGTGCTGGTCCTAGAGTTTGCAATATTCATTTACAGCTAATCCAAGTCCACTTTCAAATAACACTTTACTACTTCACAGGTGGTGCAAGTACCACTTAATAGCAAGATAATCCTAATTCCTATCTCCTGTTTCTTACATTGTGATTCATTTCACTTATACATGAGCACATAAGTAATTGTAATACATGAGCATATGTAATTGAATACAATGTTATTATTTTAAACTGTTACCTATTAGATCAATTAAGAAAAATAAAACTTATTTTACCTTCACTCATTCCCTCTTCAATGCTCTCACTTGCTTTATATACACCAGAGTTTTTGACCTCTATCATTTCCTTCTCTCTAAAAGAACTTTTAACATTTCTTGCAAGGTAAGTCTATGACATATTCTGCCAATTTTTGTCTGAGAAAGTCTTTATTTCTCTTCCATTTTTAAAGGATAATTTCACAGGGTATAAAATCCTACATTGGTGAGTGTTTTCTCTCAGCACTTTAAACATTTTACTACACTCTCTTCTGCTTGCATGGTTTCTGAAAAGAGATCAGATCTAATTATTATCTTTGCTCTTGTACAGGTATGGTGGATTTTTTCCTCTGGCTTCAGTATTTGTTATTTTTTATTTCCTGTAGTTTGCAAATGATAGGCCTAGTTGAAGTTCTTCTGGCATTTCTCATATTTGGTGTTCTCTCAGCTTCCTAGATCTGTGGATTGG
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Task1_train_21736
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Here is a variant affecting ETFA (electron transfer flavoprotein subunit alpha) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Multiple acyl-CoA dehydrogenase deficiency
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AGGCTGGAGTGCAGCAGTGTAATCTCAGCTCATTGCAGCCTCAACCTTCCAGGCTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACATGTACTGTAATTTAAAAATCCATAGAAGGAGGCCTAAAAGAATGTACAATTGTTAACAGCTATACTTCTAAAGAGGGGAGGGTGAGTTGGGAATAAGAAAGCAGGACTTTGACACCTTGCTCTGCACACTGCTGTACTACACGCAGTCTTCCTAATAAGGATGTATTTGTGTACAACTTATTTTACAATTTTTAAAAGTGAAAATAGGCTAAGCACAGTGACTTATGTCTGTAATCCTAGCACTTTGGGAGGCTGAAATGAGAGGATGACTTGAGGCCAGGAGTTTAAGACAAGCCCGCACAACATAGGGAGACTACATCGATACAAAAAATTTGAAAATTAGCTGGGCATGGTGGCATGTACCTGTAGTCCTAGCTACTCAGAAGGCTAGGATAGGAGGATCGTTTGAGCCCACAAGTTGGAGGGTATGTTGAGCTACAATCGTGCCACTGCACTCCAGTCTGGGCAACAGAGCTAGGCTGAAGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACACGGCGAAACCCTGTCTCTACTAAACATACAAAAATTAGCCAGGTGTGGTGGCACGCACCTATAATCCCAGCTACACACGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATTGTGCTGCTGCACTCCAGCCTGGGCGAGGAAAGTAAGACTCCATCTCGAAAAAAAAAAAAAAAAAAAGTAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGGGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGCTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGGGGGCGGAGCCTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAACCTGGGCGACAGTGAGACTCCATCTCAAAAAAAAGAAAGTAAAAATAAAGACTAAAAATGACACCTTATTAAGAATGGAACAAAAGAAAAGAGAGCTAAGATAACACCCACGGCCACAGAGAGAGAGCAAGAAAAATCCACTGACGAATTCCTTGTCTTAAGCTCCCATTACACTCCTCCCTCCATTTTTAACTTTATGTAGACTGCTATCCATCTTATAACACACTCATTCTTCAGACACATCACAATGCACATGATCAGATTACAGCTTTCTTTACCTTAAGGATGTCTTCAACCACCACAAGCCCTTTCCAAATTCCCTACGTAGATAAAATTTGGCTTTTCTAGATATCCATCAGCCATCCAAATAAACCATCTCTTAAAATGGGCTACTAATAGAAATGACTCTTGCTCGTTCACTCTCTCTCTCACATGCAAGCAGAATTCAGCATTACTTTTACATGCAGAAAATTTTAAAATAATAGCCTAATTAGAGTTTTCTCCACAACATAATTTGAAAACCTGGAAATGGTAGTTTTAACGGAAAATTATGACAAAATCTTGAAAGAATAAATTTTAGCAAAACTACCACATCAATTCAGATAAATCCAGATTGGCTACATAAACAGTCTGTTGCATACTTTCAGCACAATGAAATCTAACCCTTTCAAGCAGTGATATCAGATTCCACATTCTCAACCTTCTCACCTTTCCGAAGGCAGATGCTCCAGCACAGATGTGTGTGTAATTGAACTGCTTCTGAGTTGCCAAAATCAATGGTGTCAGTTCCTCTGAGAATTAAACACATTTGATAAAAAAATATTTTGAAATACTTTCATATTCATATATTCAAGCGTAATTTAGACACTACATTTTTTTCTACTGGAAAACCTCACCTGGAAGTAGGCCTTTGTACACATCATGCTGAGCCACCAGAACTTTTGCTATGCCTGCTACTTTACAGAGATCTTGTGCCACCTATGATTAAAAGATAAGTTCCTAATTATCCATCTATCAGAAATATACAAATAAAGCCACCACTATAAATATCAACAGATCATAAAATCTTAATGGCCAACTGTAAAAATTATTCTTATTAGCAAAAGGGCCAGTTAAGAATTAAAATATATTCCGGCCGGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTCTGAGAGGCTGAGGCAGGCAGATCACCGGAGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAAGAGAATGGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCAAGATCACACCACTTCACTCCAGACTGGGCGAAAGAGTGAAACTCCATCTCAAACAAACAAAGAATTAAAATATTAAAATACATTCCTTAACAAAGAAAATCTAATGCCAATAGATCTTACTACTGACTGACCTTACACTGTCCAACTACCAAGCATTTCAACAAAAATTCCTGCCTTGAAAAAGAAAAGTGCTAATTGACAAACCAAAATCAACATGGCTCTTTATTCAAATTTTGTTATAAATTGTGCTTTTTACTTTTGGTTCAATCCAAGTGTAAGTTCAATGTCCTGGAAATGGTGAAAATGAAGTTCTCTAGTAACATCCCATTGTCAACCACTGAGTTCCTGCCCACATACACATATTTATCTATGACAAAGCAAAATATTTCCTATTTTAATTCTTCATTTTTCCTGTTTGGAATTAGAATGGGGTTCTGAGAAAGCTTTTTGATGATTCAGATTTTCTATATTCAGAAGGCAATTAGATTTCCCCTTTTTAAGTATCTTTATTACCTCATGGCTGGTTTCCACTTTAGCTAAGTCATATCAGTCATACTATCGTCTTCTGTCTCCTTGTTTACCTCCAAACTGATTCATTGATTCACTGATGAGTAGGATTAAAAGGCTGTGCCTTGTGCCACCCTCATATGAACTGTTAGCTTGCAACAATATTCACTGAAGAAAGGATGCAGTGCAAGAATACATTCTCTGCTAAACCAAGTGTTCACCGGCATACCATTTGTACTACAGAGGCCCTTTATTATGGATGCAGCTGCATTTAGCTTCTCAAACTTTAAGAGAATTTCCAATTAAGAAACTCAGTTAATTGCAATGTAGCTGCATAGCAGCATGGGATAGAAAATGGGGCAGAATTTTCCCATTGAAACTATCTTGTTTTTACTGGCAAAACGGCTGGCATTATACAGAAGAATAACTTGCTGTTTATGACAAGTAGCTGAATAAAATGGTATAAAACCGAACTCTATTAAACGATCTCTTCATACAGGTACTGGTTGTTTTCTTTAAAATTAGAACATGACAGGTTAGGATTGTAACTGAGTACAGAAGACGATTTCTATTTTGATTTTTCTCAAAGTAGTATAAAGTATCAAAGTCTTTTTAAAGTAATATTACAATAATTATTTTAAATCACAGCAAAACAAACAACAAATCACAAATTCCTATATATCCAAAAACAGGGAAACCAAAAAGATAGCTTAGCCATCATATACTGTGGCTAATACAGACATACAAATAGATAGCTTAGCCATCACACATCACACATTGTGGCTGTATCAACTATGTAAGATCCTACAGTTGTTAGCAGGAATTGGGTAAAGAAATCCACATAACTAATCATAAACCCACCAGAATATGTTCTTTTATCAATTTCATGT
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AGGCTGGAGTGCAGCAGTGTAATCTCAGCTCATTGCAGCCTCAACCTTCCAGGCTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACATGTACTGTAATTTAAAAATCCATAGAAGGAGGCCTAAAAGAATGTACAATTGTTAACAGCTATACTTCTAAAGAGGGGAGGGTGAGTTGGGAATAAGAAAGCAGGACTTTGACACCTTGCTCTGCACACTGCTGTACTACACGCAGTCTTCCTAATAAGGATGTATTTGTGTACAACTTATTTTACAATTTTTAAAAGTGAAAATAGGCTAAGCACAGTGACTTATGTCTGTAATCCTAGCACTTTGGGAGGCTGAAATGAGAGGATGACTTGAGGCCAGGAGTTTAAGACAAGCCCGCACAACATAGGGAGACTACATCGATACAAAAAATTTGAAAATTAGCTGGGCATGGTGGCATGTACCTGTAGTCCTAGCTACTCAGAAGGCTAGGATAGGAGGATCGTTTGAGCCCACAAGTTGGAGGGTATGTTGAGCTACAATCGTGCCACTGCACTCCAGTCTGGGCAACAGAGCTAGGCTGAAGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACACGGCGAAACCCTGTCTCTACTAAACATACAAAAATTAGCCAGGTGTGGTGGCACGCACCTATAATCCCAGCTACACACGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATTGTGCTGCTGCACTCCAGCCTGGGCGAGGAAAGTAAGACTCCATCTCGAAAAAAAAAAAAAAAAAAAGTAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGGGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGCTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGGGGGCGGAGCCTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAACCTGGGCGACAGTGAGACTCCATCTCAAAAAAAAGAAAGTAAAAATAAAGACTAAAAATGACACCTTATTAAGAATGGAACAAAAGAAAAGAGAGCTAAGATAACACCCACGGCCACAGAGAGAGAGCAAGAAAAATCCACTGACGAATTCCTTGTCTTAAGCTCCCATTACACTCCTCCCTCCATTTTTAACTTTATGTAGACTGCTATCCATCTTATAACACACTCATTCTTCAGACACATCACAATGCACATGATCAGATTACAGCTTTCTTTACCTTAAGGATGTCTTCAACCACCACAAGCCCTTTCCAAATTCCCTACGTAGATAAAATTTGGCTTTTCTAGATATCCATCAGCCATCCAAATAAACCATCTCTTAAAATGGGCTACTAATAGAAATGACTCTTGCTCGTTCACTCTCTCTCTCACATGCAAGCAGAATTCAGCATTACTTTTACATGCAGAAAATTTTAAAATAATAGCCTAATTAGAGTTTTCTCCACAACATAATTTGAAAACCTGGAAATGGTAGTTTTAACGGAAAATTATGACAAAATCTTGAAAGAATAAATTTTAGCAAAACTACCACATCAATTCAGATAAATCCAGATTGGCTACATAAACAGTCTGTTGCATACTTTCAGCACAATGAAATCTAACCCTTTCAAGCAGTGATATCAGATTCCACATTCTCAACCTTCTCACCTTTCTGAAGGCAGATGCTCCAGCACAGATGTGTGTGTAATTGAACTGCTTCTGAGTTGCCAAAATCAATGGTGTCAGTTCCTCTGAGAATTAAACACATTTGATAAAAAAATATTTTGAAATACTTTCATATTCATATATTCAAGCGTAATTTAGACACTACATTTTTTTCTACTGGAAAACCTCACCTGGAAGTAGGCCTTTGTACACATCATGCTGAGCCACCAGAACTTTTGCTATGCCTGCTACTTTACAGAGATCTTGTGCCACCTATGATTAAAAGATAAGTTCCTAATTATCCATCTATCAGAAATATACAAATAAAGCCACCACTATAAATATCAACAGATCATAAAATCTTAATGGCCAACTGTAAAAATTATTCTTATTAGCAAAAGGGCCAGTTAAGAATTAAAATATATTCCGGCCGGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTCTGAGAGGCTGAGGCAGGCAGATCACCGGAGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAAGAGAATGGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCAAGATCACACCACTTCACTCCAGACTGGGCGAAAGAGTGAAACTCCATCTCAAACAAACAAAGAATTAAAATATTAAAATACATTCCTTAACAAAGAAAATCTAATGCCAATAGATCTTACTACTGACTGACCTTACACTGTCCAACTACCAAGCATTTCAACAAAAATTCCTGCCTTGAAAAAGAAAAGTGCTAATTGACAAACCAAAATCAACATGGCTCTTTATTCAAATTTTGTTATAAATTGTGCTTTTTACTTTTGGTTCAATCCAAGTGTAAGTTCAATGTCCTGGAAATGGTGAAAATGAAGTTCTCTAGTAACATCCCATTGTCAACCACTGAGTTCCTGCCCACATACACATATTTATCTATGACAAAGCAAAATATTTCCTATTTTAATTCTTCATTTTTCCTGTTTGGAATTAGAATGGGGTTCTGAGAAAGCTTTTTGATGATTCAGATTTTCTATATTCAGAAGGCAATTAGATTTCCCCTTTTTAAGTATCTTTATTACCTCATGGCTGGTTTCCACTTTAGCTAAGTCATATCAGTCATACTATCGTCTTCTGTCTCCTTGTTTACCTCCAAACTGATTCATTGATTCACTGATGAGTAGGATTAAAAGGCTGTGCCTTGTGCCACCCTCATATGAACTGTTAGCTTGCAACAATATTCACTGAAGAAAGGATGCAGTGCAAGAATACATTCTCTGCTAAACCAAGTGTTCACCGGCATACCATTTGTACTACAGAGGCCCTTTATTATGGATGCAGCTGCATTTAGCTTCTCAAACTTTAAGAGAATTTCCAATTAAGAAACTCAGTTAATTGCAATGTAGCTGCATAGCAGCATGGGATAGAAAATGGGGCAGAATTTTCCCATTGAAACTATCTTGTTTTTACTGGCAAAACGGCTGGCATTATACAGAAGAATAACTTGCTGTTTATGACAAGTAGCTGAATAAAATGGTATAAAACCGAACTCTATTAAACGATCTCTTCATACAGGTACTGGTTGTTTTCTTTAAAATTAGAACATGACAGGTTAGGATTGTAACTGAGTACAGAAGACGATTTCTATTTTGATTTTTCTCAAAGTAGTATAAAGTATCAAAGTCTTTTTAAAGTAATATTACAATAATTATTTTAAATCACAGCAAAACAAACAACAAATCACAAATTCCTATATATCCAAAAACAGGGAAACCAAAAAGATAGCTTAGCCATCATATACTGTGGCTAATACAGACATACAAATAGATAGCTTAGCCATCACACATCACACATTGTGGCTGTATCAACTATGTAAGATCCTACAGTTGTTAGCAGGAATTGGGTAAAGAAATCCACATAACTAATCATAAACCCACCAGAATATGTTCTTTTATCAATTTCATGT
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Task1_train_21737
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This alteration in PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; PSTPIP1-related disorder
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GCCCAGAGAGGGAAGTGGCCTGAGGGTGAGCTGGGGGCAGTCAGTCAGGGGCCAGAGCCCAAGTCCCAGCCAGGGGGCTCAGCAGTAGTTGCACCTCTCCTGTGGGTTGTGGTCTCACTCTTCACAGGCATCCTCCTGGGCTCGGTTCCTGTCTTCGTTCTCTTTCCATGGAGCTAGCCTGTGGTCCTCTGTGGGCGGAGGTTGCTTGTGGATGATGGCATCTGCCCATAGTTGGCTCCTGAATGTTCCCCCCAGGGTGGCCGGGGAAGCTTGACAGTCACTTCAGGTCTGCTGGGGTGGGCCCTGGCTCCTGGGGCAGGGGCTTAGCGCTGCTTCCCCTCTGTTTCCTCAGAGTCAGAACAAAGCCAGGCAGTGCAAGGACTCGGCCACCGAGGCAGGTATGTGGGCCTGGCTGCCCCGTCCGACCAGGGCGGAGGCCTGGGCGGTACTCCCCACACACACCTCCTCACCCTGGGGACACACACACTCCCCCTGGCTGCACAATCATGGGCGCGGCGCTCTCATTCCAGATATGTGCCGTCAAAGTAAACGCTGTGTTCCCCCATTCGCCAGCCCTTCTTGGCGCTTCATGTGTTCAGTCCTCACAGCTGCCCTCCGAGGTGGCTGCTGTTACTGTTCCCTTTCTTAACAGATGAGGAAACAGAGGCACTAAAAGGTCCAGTACTTGCCCCAGGTTACAGCTGCATTTGAACCCAGGCCATCGGGCTTCAGAGCCCAGGACTTGTGCACATAGCCTTCTCTGGGCCTCTGTCCTTCACTTGATGCCCGAATCCTACCAACACTCTTGTCCCTGCTGGTGCCCCACCCACCAGACACAGCACCCACCCTCCTCCCTTCCCCTGGGAAGGCCTCTCCCTTCTGCTCTGCCTTTACTGGGACTCAGCTACTCCCTCGGCTGGGGGACAGGTGACCTCCAGAGATCTGGGCACAGAAGTTGTGACCCAAGCCTGTGGGACTCCACCCCTCCTCCAGCGCCCTCTCAGCTGCCTTCTCTGAACCTCAGTTTCCCCTCTGGAAAGTGAGGTGGGGCGCCCAGAGATGCCCAGAGGCCAATACTCTGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAGGTGAGTGGCCCACGTGGAGCCTCGTTTTCCCCAGCTGGGAAGTGTGAGACGCCCATCCCTACTCCAGCTGCTTAAAGGGGCCCAAGTGAGGCAGTTGGGGAAGGTACCTGTTACTCACTCGTTTATTCAGCCTCCTGCTCACAGGCCTGTGCTGGGCCCTGGCCCTGTTGCTTGTCGCCTGGCCTTGAGTCCTGGGCCCCTTCGTTGCAGGCAGGCATTCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGC
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GCCCAGAGAGGGAAGTGGCCTGAGGGTGAGCTGGGGGCAGTCAGTCAGGGGCCAGAGCCCAAGTCCCAGCCAGGGGGCTCAGCAGTAGTTGCACCTCTCCTGTGGGTTGTGGTCTCACTCTTCACAGGCATCCTCCTGGGCTCGGTTCCTGTCTTCGTTCTCTTTCCATGGAGCTAGCCTGTGGTCCTCTGTGGGCGGAGGTTGCTTGTGGATGATGGCATCTGCCCATAGTTGGCTCCTGAATGTTCCCCCCAGGGTGGCCGGGGAAGCTTGACAGTCACTTCAGGTCTGCTGGGGTGGGCCCTGGCTCCTGGGGCAGGGGCTTAGCGCTGCTTCCCCTCTGTTTCCTCAGAGTCAGAACAAAGCCAGGCAGTGCAAGGACTCGGCCACCGAGGCAGGTATGTGGGCCTGGCTGCCCCGTCCGACCAGGGCGGAGGCCTGGGCGGTACTCCCCACACACACCTCCTCACCCTGGGGACACACACACTCCCCCTGGCTGCACAATCATGGGCGCGGCGCTCTCATTCCAGATATGTGCCGTCAAAGTAAACGCTGTGTTCCCCCATTCGCCAGCCCTTCTTGGCGCTTCATGTGTTCAGTCCTCACAGCTGCCCTCCGAGGTGGCTGCTGTTACTGTTCCCTTTCTTAACAGATGAGGAAACAGAGGCACTAAAAGGTCCAGTACTTGCCCCAGGTTACAGCTGCATTTGAACCCAGGCCATCGGGCTTCAGAGCCCAGGACTTGTGCACATAGCCTTCTCTGGGCCTCTGTCCTTCACTTGATGCCCGAATCCTACCAACACTCTTGTCCCTGCTGGTGCCCCACCCACCAGACACAGCACCCACCCTCCTCCCTTCCCCTGGGAAGGCCTCTCCCTTCTGCTCTGCCTTTACTGGGACTCAGCTACTCCCTCGGCTGGGGGACAGGTGACCTCCAGAGATCTGGGCACAGAAGTTGTGACCCAAGCCTGTGGGACTCCACCCCTCCTCCAGCGCCCTCTCAGCTGCCTTCTCTGAACCTCAGTTTCCCCTCTGGAAAGTGAGGTGGGGCGCCCAGAGATGCCCAGAGGCCAATACTCTGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAGGTGAGTGGCCCACGTGGAGCCTCGTTTTCCCCAGCTGGGAAGTGTGAGACGCCCATCCCTACTCCAGCTGCTTAAAGGGGCCCAAGTGAGGCAGTTGGGGAAGGTACCTGTTACTCACTCGTTTATTCAGCCTCCTGCTCACAGGCCTGTGCTGGGCCCTGGCCCTGTTGCTTGTCGCCTGGCCTTGAGTCCTGGGCCCCTTCGTTGCAGGCAGGCATTCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACACCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGC
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Task1_train_21738
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The variant affects gene PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
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GCCCAGAGAGGGAAGTGGCCTGAGGGTGAGCTGGGGGCAGTCAGTCAGGGGCCAGAGCCCAAGTCCCAGCCAGGGGGCTCAGCAGTAGTTGCACCTCTCCTGTGGGTTGTGGTCTCACTCTTCACAGGCATCCTCCTGGGCTCGGTTCCTGTCTTCGTTCTCTTTCCATGGAGCTAGCCTGTGGTCCTCTGTGGGCGGAGGTTGCTTGTGGATGATGGCATCTGCCCATAGTTGGCTCCTGAATGTTCCCCCCAGGGTGGCCGGGGAAGCTTGACAGTCACTTCAGGTCTGCTGGGGTGGGCCCTGGCTCCTGGGGCAGGGGCTTAGCGCTGCTTCCCCTCTGTTTCCTCAGAGTCAGAACAAAGCCAGGCAGTGCAAGGACTCGGCCACCGAGGCAGGTATGTGGGCCTGGCTGCCCCGTCCGACCAGGGCGGAGGCCTGGGCGGTACTCCCCACACACACCTCCTCACCCTGGGGACACACACACTCCCCCTGGCTGCACAATCATGGGCGCGGCGCTCTCATTCCAGATATGTGCCGTCAAAGTAAACGCTGTGTTCCCCCATTCGCCAGCCCTTCTTGGCGCTTCATGTGTTCAGTCCTCACAGCTGCCCTCCGAGGTGGCTGCTGTTACTGTTCCCTTTCTTAACAGATGAGGAAACAGAGGCACTAAAAGGTCCAGTACTTGCCCCAGGTTACAGCTGCATTTGAACCCAGGCCATCGGGCTTCAGAGCCCAGGACTTGTGCACATAGCCTTCTCTGGGCCTCTGTCCTTCACTTGATGCCCGAATCCTACCAACACTCTTGTCCCTGCTGGTGCCCCACCCACCAGACACAGCACCCACCCTCCTCCCTTCCCCTGGGAAGGCCTCTCCCTTCTGCTCTGCCTTTACTGGGACTCAGCTACTCCCTCGGCTGGGGGACAGGTGACCTCCAGAGATCTGGGCACAGAAGTTGTGACCCAAGCCTGTGGGACTCCACCCCTCCTCCAGCGCCCTCTCAGCTGCCTTCTCTGAACCTCAGTTTCCCCTCTGGAAAGTGAGGTGGGGCGCCCAGAGATGCCCAGAGGCCAATACTCTGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAGGTGAGTGGCCCACGTGGAGCCTCGTTTTCCCCAGCTGGGAAGTGTGAGACGCCCATCCCTACTCCAGCTGCTTAAAGGGGCCCAAGTGAGGCAGTTGGGGAAGGTACCTGTTACTCACTCGTTTATTCAGCCTCCTGCTCACAGGCCTGTGCTGGGCCCTGGCCCTGTTGCTTGTCGCCTGGCCTTGAGTCCTGGGCCCCTTCGTTGCAGGCAGGCATTCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGC
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GCCCAGAGAGGGAAGTGGCCTGAGGGTGAGCTGGGGGCAGTCAGTCAGGGGCCAGAGCCCAAGTCCCAGCCAGGGGGCTCAGCAGTAGTTGCACCTCTCCTGTGGGTTGTGGTCTCACTCTTCACAGGCATCCTCCTGGGCTCGGTTCCTGTCTTCGTTCTCTTTCCATGGAGCTAGCCTGTGGTCCTCTGTGGGCGGAGGTTGCTTGTGGATGATGGCATCTGCCCATAGTTGGCTCCTGAATGTTCCCCCCAGGGTGGCCGGGGAAGCTTGACAGTCACTTCAGGTCTGCTGGGGTGGGCCCTGGCTCCTGGGGCAGGGGCTTAGCGCTGCTTCCCCTCTGTTTCCTCAGAGTCAGAACAAAGCCAGGCAGTGCAAGGACTCGGCCACCGAGGCAGGTATGTGGGCCTGGCTGCCCCGTCCGACCAGGGCGGAGGCCTGGGCGGTACTCCCCACACACACCTCCTCACCCTGGGGACACACACACTCCCCCTGGCTGCACAATCATGGGCGCGGCGCTCTCATTCCAGATATGTGCCGTCAAAGTAAACGCTGTGTTCCCCCATTCGCCAGCCCTTCTTGGCGCTTCATGTGTTCAGTCCTCACAGCTGCCCTCCGAGGTGGCTGCTGTTACTGTTCCCTTTCTTAACAGATGAGGAAACAGAGGCACTAAAAGGTCCAGTACTTGCCCCAGGTTACAGCTGCATTTGAACCCAGGCCATCGGGCTTCAGAGCCCAGGACTTGTGCACATAGCCTTCTCTGGGCCTCTGTCCTTCACTTGATGCCCGAATCCTACCAACACTCTTGTCCCTGCTGGTGCCCCACCCACCAGACACAGCACCCACCCTCCTCCCTTCCCCTGGGAAGGCCTCTCCCTTCTGCTCTGCCTTTACTGGGACTCAGCTACTCCCTCGGCTGGGGGACAGGTGACCTCCAGAGATCTGGGCACAGAAGTTGTGACCCAAGCCTGTGGGACTCCACCCCTCCTCCAGCGCCCTCTCAGCTGCCTTCTCTGAACCTCAGTTTCCCCTCTGGAAAGTGAGGTGGGGCGCCCAGAGATGCCCAGAGGCCAATACTCTGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAGGTGAGTGGCCCACGTGGAGCCTCGTTTTCCCCAGCTGGGAAGTGTGAGACGCCCATCCCTACTCCAGCTGCTTAAAGGGGCCCAAGTGAGGCAGTTGGGGAAGGTACCTGTTACTCACTCGTTTATTCAGCCTCCTGCTCACAGGCCTGTGCTGGGCCCTGGCCCTGTTGCTTGTCGCCTGGCCTTGAGTCCTGGGCCCCTTCGTTGCAGGCAGGCATTCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACACCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGC
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Task1_train_21739
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Chromosome 15 houses a mutation in gene PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
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TGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAGGTGAGTGGCCCACGTGGAGCCTCGTTTTCCCCAGCTGGGAAGTGTGAGACGCCCATCCCTACTCCAGCTGCTTAAAGGGGCCCAAGTGAGGCAGTTGGGGAAGGTACCTGTTACTCACTCGTTTATTCAGCCTCCTGCTCACAGGCCTGTGCTGGGCCCTGGCCCTGTTGCTTGTCGCCTGGCCTTGAGTCCTGGGCCCCTTCGTTGCAGGCAGGCATTCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGCAGTGGCAACGCTGTCTGGCTGGAGCAGGACTGGGGCATCTGGAGAATTCTCCAGGCTTTTCCAGGGCTCCTTCCCCGGCCTGGCTGCAGTCAAGTGCCAAGGTCCTAGTGCTGGGCCTCAATGTGTGACCTGGGCAAGTCATTCACACTCTCTAAGGCCAGGGCCCTGAGTGTTGGGGTCAGATTCAGAATCTAAGGACTCTCCTGGTTCAGGCCTTGAGTGACGAAGGTGACAGCCCATTGGGAGCACTATAGCCAGCTTAGGGAGCCCTCGTAGCCAGGCCTTTGAGGGAGGCCATGTGCCCTGTGAGCATCCACAAGGGTCTGTGGGTTTCACATGGTGCCTGTGCCCCCACCGCCATGCCACCACTCTTCAGCCACCCTTCAACCAAGAAGGCCCTGCCTCTGGGAGGTAGTGGACTGTGGGGAGAGGCTGATGCAGTTCCCGGCCCTTCCCAAGGACCAGCTCATTCCAGGGCCTCAGGAGCCCCTGGAACTTCCTACTCCTGGGAGGCAGAGGCTCGTGGGAACCACCCGTGCTTAGAGAGGGCACACACACACCCTCTTTGAGAATCTTGTGCAAGCAGTGACCCCAGGAGGCAGCACACCCGCAGCCTCACATGCTACAAAAGCTTGTGAGACAGGCTTCCCTGTGCCTGGTGAGGACCTGGATCCCAGCAAAGGTGGTCATTTAAGCAACTGGACAAAAGAGCTCACCTGAAGCAGTATCAGGAAGGGGCAGAAAGGAGTGGCCCCAGAGAGGATTAGAGAGAGAGAGAGAGATGTCCTGCAGGGCCGAGGGAGGCCTGGCTGCTGGAGGGGGCTGGTCAGGCCTCTGGATGGGGCATCTAGAAGCCAGGCAGGACTGGGAAGAGGCGGGGGTCAGTGACTGGGAGTCAGAAGTGTAGACAGTCTGGGGAAAAGAGGTGTGGGGGCACGCAGCACAATGGCTCAGCAAGCCCTGCACCCCTTTCCCCCTGCCCTGGCCGCTTCCTCCACCTGTCCCCAGCCCCTGCTGGCTTGCACCCTGTCCTTTGCTGCCTGGGGAGCTGGCACGTGTGTCTGCCCGCCTGTGTTGGT
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TGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAGGTGAGTGGCCCACGTGGAGCCTCGTTTTCCCCAGCTGGGAAGTGTGAGACGCCCATCCCTACTCCAGCTGCTTAAAGGGGCCCAAGTGAGGCAGTTGGGGAAGGTACCTGTTACTCACTCGTTTATTCAGCCTCCTGCTCACAGGCCTGTGCTGGGCCCTGGCCCTGTTGCTTGTCGCCTGGCCTTGAGTCCTGGGCCCCTTCGTTGCAGGCAGGCATTCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACCAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGCAGTGGCAACGCTGTCTGGCTGGAGCAGGACTGGGGCATCTGGAGAATTCTCCAGGCTTTTCCAGGGCTCCTTCCCCGGCCTGGCTGCAGTCAAGTGCCAAGGTCCTAGTGCTGGGCCTCAATGTGTGACCTGGGCAAGTCATTCACACTCTCTAAGGCCAGGGCCCTGAGTGTTGGGGTCAGATTCAGAATCTAAGGACTCTCCTGGTTCAGGCCTTGAGTGACGAAGGTGACAGCCCATTGGGAGCACTATAGCCAGCTTAGGGAGCCCTCGTAGCCAGGCCTTTGAGGGAGGCCATGTGCCCTGTGAGCATCCACAAGGGTCTGTGGGTTTCACATGGTGCCTGTGCCCCCACCGCCATGCCACCACTCTTCAGCCACCCTTCAACCAAGAAGGCCCTGCCTCTGGGAGGTAGTGGACTGTGGGGAGAGGCTGATGCAGTTCCCGGCCCTTCCCAAGGACCAGCTCATTCCAGGGCCTCAGGAGCCCCTGGAACTTCCTACTCCTGGGAGGCAGAGGCTCGTGGGAACCACCCGTGCTTAGAGAGGGCACACACACACCCTCTTTGAGAATCTTGTGCAAGCAGTGACCCCAGGAGGCAGCACACCCGCAGCCTCACATGCTACAAAAGCTTGTGAGACAGGCTTCCCTGTGCCTGGTGAGGACCTGGATCCCAGCAAAGGTGGTCATTTAAGCAACTGGACAAAAGAGCTCACCTGAAGCAGTATCAGGAAGGGGCAGAAAGGAGTGGCCCCAGAGAGGATTAGAGAGAGAGAGAGAGATGTCCTGCAGGGCCGAGGGAGGCCTGGCTGCTGGAGGGGGCTGGTCAGGCCTCTGGATGGGGCATCTAGAAGCCAGGCAGGACTGGGAAGAGGCGGGGGTCAGTGACTGGGAGTCAGAAGTGTAGACAGTCTGGGGAAAAGAGGTGTGGGGGCACGCAGCACAATGGCTCAGCAAGCCCTGCACCCCTTTCCCCCTGCCCTGGCCGCTTCCTCCACCTGTCCCCAGCCCCTGCTGGCTTGCACCCTGTCCTTTGCTGCCTGGGGAGCTGGCACGTGTGTCTGCCCGCCTGTGTTGGT
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Task1_train_21740
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A mutation found in PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Behcet disease
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CTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGCAGTGGCAACGCTGTCTGGCTGGAGCAGGACTGGGGCATCTGGAGAATTCTCCAGGCTTTTCCAGGGCTCCTTCCCCGGCCTGGCTGCAGTCAAGTGCCAAGGTCCTAGTGCTGGGCCTCAATGTGTGACCTGGGCAAGTCATTCACACTCTCTAAGGCCAGGGCCCTGAGTGTTGGGGTCAGATTCAGAATCTAAGGACTCTCCTGGTTCAGGCCTTGAGTGACGAAGGTGACAGCCCATTGGGAGCACTATAGCCAGCTTAGGGAGCCCTCGTAGCCAGGCCTTTGAGGGAGGCCATGTGCCCTGTGAGCATCCACAAGGGTCTGTGGGTTTCACATGGTGCCTGTGCCCCCACCGCCATGCCACCACTCTTCAGCCACCCTTCAACCAAGAAGGCCCTGCCTCTGGGAGGTAGTGGACTGTGGGGAGAGGCTGATGCAGTTCCCGGCCCTTCCCAAGGACCAGCTCATTCCAGGGCCTCAGGAGCCCCTGGAACTTCCTACTCCTGGGAGGCAGAGGCTCGTGGGAACCACCCGTGCTTAGAGAGGGCACACACACACCCTCTTTGAGAATCTTGTGCAAGCAGTGACCCCAGGAGGCAGCACACCCGCAGCCTCACATGCTACAAAAGCTTGTGAGACAGGCTTCCCTGTGCCTGGTGAGGACCTGGATCCCAGCAAAGGTGGTCATTTAAGCAACTGGACAAAAGAGCTCACCTGAAGCAGTATCAGGAAGGGGCAGAAAGGAGTGGCCCCAGAGAGGATTAGAGAGAGAGAGAGAGATGTCCTGCAGGGCCGAGGGAGGCCTGGCTGCTGGAGGGGGCTGGTCAGGCCTCTGGATGGGGCATCTAGAAGCCAGGCAGGACTGGGAAGAGGCGGGGGTCAGTGACTGGGAGTCAGAAGTGTAGACAGTCTGGGGAAAAGAGGTGTGGGGGCACGCAGCACAATGGCTCAGCAAGCCCTGCACCCCTTTCCCCCTGCCCTGGCCGCTTCCTCCACCTGTCCCCAGCCCCTGCTGGCTTGCACCCTGTCCTTTGCTGCCTGGGGAGCTGGCACGTGTGTCTGCCCGCCTGTGTTGGTGTCAGGCCCTCCCATGTGCTGGGTCCACGCATGTCCACCCTGCGCATGTGTGTGCACTCCTGGGGCCTTGGCCCTCGGCGCCTCATGTGGGAAAGGCCCCCCACATGCCACCTTGAATTGCAGGGCTGCCCCCCACAGGCCCCTGAGTCATGGCTCAGCCCCTCACCTGCATTCAAGATCCCTCAGGGTCTGGTCCAGTCTCTATTTCAGTCCTGTCCCCCACACACCCAAATTGGTCCACTCCACTCCACAAACCCCACCTGTGCCATGCCTCCTCCCCTGCACCTGAGCCCTCCCTCTCCTGGTCACCTGCAGTGCCTCGCTCCCCCTTCTCTCCTAGTAAAGCTTCACTCATCTTTGAAGACTCAGCCCCACCCCACTAAGAAGCCCTCTTGCCTTGGAGGCAGTGTCAGCCTCTACTTGTTGAGCCCTCACTACTGCCCACTTCAGGGGGTGCCCCCAGCATCTGCCGCATCTGCCTCTTCTGTTTTATTTTCCTTTATTCAGTAAACCTTCATGACCCCAGCTCAGTCCAGGCCTAAGCCTGGTGCAGGGGCAGGGGTAAAGTAGCCCAGCGCTGTCCC
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CTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCACCTCCCTCCCACTGCCCCCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATGCAGTGTGTCAAGGATGATGAGGTGGGGGCTGAGGGCCTTGGTGTGGGGTAAGGTAGGGCAGCCTCTAGGCAGCAAAGCACCCAGGTCCATCTGAGCCGGTCAACAAGCACCTGGTCCTCTGTGATCCAAGCCTGGCCCCAGGGGTCTCAGGCCTCAGCAGCTCAGCCTTTGCCCCCAGAACCCCAAGACAGGAGCTCAGTACCACACAGGGCCATGGCTTCTCTGCCTGGAAGATGATGACTCTGTGGTTCCCCTGACTTCCTCCTTATGCCTCAGAGCCACAGAGCACCTGCCCCCTCTGCCGGGGATGGGAGGGGAGGTGGACACAGCTGTCAGAGGTTGGCAGAAGCTGGAGGACCGTGGCTGCTCTGCTCTAGGCCTGGTGCTTGCAGGAGCCGAGGCGCAGTCCTTCCTCTGCTCCCCACATCTCCAGGGTGTCCTGGTTCCCCTTACTGAGCCCAACCTGCTGGGTGGGTCCTCCCCAGCAGAGAGGGCCCCCAGCCAGGGTCCCTGAGCTCTGTGGATGGATGCAGCCCAGCACACGGCTCTCCCGGGCAGCCCTGGCCCCCTTGCCTGCTGTGTTTCCTGCCTGACGCTCCTGTCCGGGGCTGTGGGGGTTGATTTTCTTGTTGTTTTTGCCCAAGTGACTCGAGCCCCCTGCTGCCTCCTCGCCTCCTTGAGGTAGAAGGGCGAGCTCTGGACCCACTCTCCTAGCCCCAAGGCCTGGCTGTGCTGCATTCTCGCTGTGACCTTGGGCAAGTCACTCTCCTCTGAGTTTCCTCATCTATCCAATGGGAAAAGTGGGGTCTACCTTAGAGGACAGGTGTGAGTTAAGTCCCTTGCACAGGGCCTTGCACACAGAAGGTGTTCAGGAAACAGGAAGCTGTCAGCCAGGGCCGTGACCCCTCAGGATCAAAGACCCCGAGCCGCGCACAATGGCCTGTGAGGAGGCCGGTGGGTGGGGGCCGCTGGTCAGAGTTCAGGCCCACAGAGGGGCAGAGTGGGCATCGGGCTGCGGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGCATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGGACAGCGCAGCCTCTAGGTGCATTGAGCCCCTGGGAAGGCCCGGCCCTGAGCCTCAAGTGCCAGGACCGGGCTGGGGTAGCTCACAGCTCCCTTCAGGGCAGAGAAGCCCTAGCAGGGGTTGTGGGGAGTTGGGTCCCAGGCCTGCTGCCTCCTCTCAGGCAAAGCTAAGGGCATGATGGCACTCAGAGGAAGAGGTGGGGATGGGGATTGAGGTGAGGAGCTCCCACGGCCCCCACTCCCCGCCTGTTTGGTTCCACTGGATCACGGGTCCAGAATATTAGGTCTTGATGGTACCTACGGTGGGGTCTCTCATGGGAGCAAGACAGGCACCTCCTCAGGCACCAGGATGGGCCAGGGCCAGATTGGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCTACCAGAACTATTACCATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGCATACAGCCGTCCTGCGGCATGATAAAGAGGTGAGGCCCCGACAGACGGAGGGAGGGCCTAAGGCTGGGCCAGGAAGTGGGTCGAGCCCCTCCTCTGCACCTGGCCCTTCCTCGTTCACTGAGCACCTACTATGTGTCTGTATCTGGTGCCCAGTTTAGGTGCTGGGCACTCTGTGGAGACAAGATAGGCTCAGTTCAGCCTATGGAACCCTCAGCCCAAGGGACCCAGACACTAGAATAATCACACCCCAATTATTCACTAGGGGAGGTGCTCCGAGCTCTGGGGAGGCCCCTATGCTGGCTTCCTTGTCCCTGGGGCCTCATGTGAGCCTGGTGCCCTGTCAGGCTGCAGTGGCAACGCTGTCTGGCTGGAGCAGGACTGGGGCATCTGGAGAATTCTCCAGGCTTTTCCAGGGCTCCTTCCCCGGCCTGGCTGCAGTCAAGTGCCAAGGTCCTAGTGCTGGGCCTCAATGTGTGACCTGGGCAAGTCATTCACACTCTCTAAGGCCAGGGCCCTGAGTGTTGGGGTCAGATTCAGAATCTAAGGACTCTCCTGGTTCAGGCCTTGAGTGACGAAGGTGACAGCCCATTGGGAGCACTATAGCCAGCTTAGGGAGCCCTCGTAGCCAGGCCTTTGAGGGAGGCCATGTGCCCTGTGAGCATCCACAAGGGTCTGTGGGTTTCACATGGTGCCTGTGCCCCCACCGCCATGCCACCACTCTTCAGCCACCCTTCAACCAAGAAGGCCCTGCCTCTGGGAGGTAGTGGACTGTGGGGAGAGGCTGATGCAGTTCCCGGCCCTTCCCAAGGACCAGCTCATTCCAGGGCCTCAGGAGCCCCTGGAACTTCCTACTCCTGGGAGGCAGAGGCTCGTGGGAACCACCCGTGCTTAGAGAGGGCACACACACACCCTCTTTGAGAATCTTGTGCAAGCAGTGACCCCAGGAGGCAGCACACCCGCAGCCTCACATGCTACAAAAGCTTGTGAGACAGGCTTCCCTGTGCCTGGTGAGGACCTGGATCCCAGCAAAGGTGGTCATTTAAGCAACTGGACAAAAGAGCTCACCTGAAGCAGTATCAGGAAGGGGCAGAAAGGAGTGGCCCCAGAGAGGATTAGAGAGAGAGAGAGAGATGTCCTGCAGGGCCGAGGGAGGCCTGGCTGCTGGAGGGGGCTGGTCAGGCCTCTGGATGGGGCATCTAGAAGCCAGGCAGGACTGGGAAGAGGCGGGGGTCAGTGACTGGGAGTCAGAAGTGTAGACAGTCTGGGGAAAAGAGGTGTGGGGGCACGCAGCACAATGGCTCAGCAAGCCCTGCACCCCTTTCCCCCTGCCCTGGCCGCTTCCTCCACCTGTCCCCAGCCCCTGCTGGCTTGCACCCTGTCCTTTGCTGCCTGGGGAGCTGGCACGTGTGTCTGCCCGCCTGTGTTGGTGTCAGGCCCTCCCATGTGCTGGGTCCACGCATGTCCACCCTGCGCATGTGTGTGCACTCCTGGGGCCTTGGCCCTCGGCGCCTCATGTGGGAAAGGCCCCCCACATGCCACCTTGAATTGCAGGGCTGCCCCCCACAGGCCCCTGAGTCATGGCTCAGCCCCTCACCTGCATTCAAGATCCCTCAGGGTCTGGTCCAGTCTCTATTTCAGTCCTGTCCCCCACACACCCAAATTGGTCCACTCCACTCCACAAACCCCACCTGTGCCATGCCTCCTCCCCTGCACCTGAGCCCTCCCTCTCCTGGTCACCTGCAGTGCCTCGCTCCCCCTTCTCTCCTAGTAAAGCTTCACTCATCTTTGAAGACTCAGCCCCACCCCACTAAGAAGCCCTCTTGCCTTGGAGGCAGTGTCAGCCTCTACTTGTTGAGCCCTCACTACTGCCCACTTCAGGGGGTGCCCCCAGCATCTGCCGCATCTGCCTCTTCTGTTTTATTTTCCTTTATTCAGTAAACCTTCATGACCCCAGCTCAGTCCAGGCCTAAGCCTGGTGCAGGGGCAGGGGTAAAGTAGCCCAGCGCTGTCCC
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Task1_train_21741
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A change on Chromosome 15 affects gene LINGO1 (leucine rich repeat and Ig domain containing 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Intellectual disability, autosomal recessive 64
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GTGAGATAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACACCCAAGCCAGGCTCCCACCCCTTGCAGTGGTGCCGCCTGGCAGCCCAGCAGACAGGCTCCCACCCCCATCGGCAGACCTGTCCCCTCCACCTGCGCCCTGCAAAAAGCCAGCCCGGAGCTGGGCCCAGGCCTGCCCCCTAGCCTGCTCCTGATGGTGCCTGGGGCGGGGTGGGCAGGTGGGTGGGGCTGGAACCTCCTTTCCTGTTTTCCTGAGTGATCCCTCCCCACTGGGGAAGAGAAGAGAAAGGAGGAAGAAGAGGAGGAGGAGGAAGAGAAAAACAAGAAACTGAGTTGGAAGAGGGCCCTGGAGCAATCAGGACGTCAAAAGTTTGCATTCCGACTAGCTATAGGAAATAGTTTTTTTCTCTTTTTATTATTTCAAGTTTTCATAAAAATCCATAATTATTGAAACCCAAGTTACAGAGAAAGTTCGTAACTTTTTTATTGAATTATTGACTCTGCCGCGTGTCGGTTCGTCGGCTTTCAACTCCAGTCTGTCAATGCCCCTGTGTAGGTGGGGTCCCCAGGTCTGGGCTTCTGAGGTCCTGGTAGAAGGAGGGCAGGTGGTGAGGGCTGGCGGGGGGCAGCAGGGGACGGAGGCGGGAGGGAGAAAGAGAACGTGTGTAGAAGGGTAGGGAGGAGGTGGGAAGGACTGGAGAGTGAGCAGGTGGCGGCCAGGCCCCTTCCCCTGCCCGGCCGCCCGGGGGTCCCTGCCCCCCGCCCCGGCCTCATATCATCTTCATGTTGAACTTGCGGGGCGCGTCGGCGGAGCTGATGCCTGCGTCCGACTTTCGGGGCACATACTCGATCTCGATGTTGTGCTTTGTGTTGCCCTTGCCCCGGCTCCAGAGAAACAGCAGCACCAGGCAGAAGAGGACGACGCCCAGGAAAGAGATGAAGCCCATGGTGGTGGCGATGATGAGGGTCTTGATGTCGAAGGGGAAAGGCACAGTGGCGCGGGTGCTGTTGGCCTCTCCCTCGCCCGGCTGGTTGGAGATGAAAGCGAAGGTCTTGTTGGGCTGATGGGGCCAGTCGGGCGAGTAGCTGCGCACATGCAGGTGGGCGGGCATGGAGTCGTTGCCGCCCGCGTTGGCCGCGATGCACAGGTACGTGCCGTTGTCCTGTACCTGGGCGTAGCGCACCTCCAGCGTGCCATCAGGGAAGACTGTGAGCCGCCCATTGCTCTTGGCTGAGACCAGGTGCTTTCGGGGTGAGAGCCAGAGGATGGCGGGCGGCGGGTCGCCATCGGCCCGGCACACAAACTGCACCGTGTGGCCCTCGTCCACAAACACCTGCTGGGCCTTGCGGTCCCGGATGCGGGCGCGGCGGCAGGTGAAGTAGTTGGGCAGTAGCACATCAGGGAAGTCCTTGAACTCCTTGCCCTGGACAAACTCGGGCGTGGCGCACGTGGGCTGCTGCCGGTTGAAGTTGAGCCGCCAGCGGCGCCGGAACACCCACAGGAGCCGACAGTCGCAGGCCAGCGGGTTGGAGTCCAGGATGAGTGTCTCCAGGTTGCCCACCGAGTGGAAGACTGATTCCTCCAGTGTGGTCAGCTGGTTGCCAGAGACATTGAGCACGCGCAGGTAGTTGAGGCCGCGGAAGGCATAGGGCTCCACCACGGCCAGCTGCCCGCCCACCAGCTGGATCTCCTGCAGCCGGAGCAGCTCATGCAACATGGAGCCCTCAATGGTGCTGATGGGGTTGTAGGAGAGGTTGAGGAAGCGGAGATAGACTAGGTGGCGGACGGCCAGGTAGGGCACAGCGGTCAGATTGCAGTGTGTGATGGACAGGGACGTCAGGTTGAGGCCGTAGAGGCAGTTGGGTGTCATGGTGTCCAAGTAGGGCCAGTGGGAGATCTCCAAGACCTTGAGTCGGTACAGCCTCTTGAAGGAGTAGTCCCGGATGGCATTGATGTTGAGGTGCCGGAGCCTCAGGACGATGAGGCCGTGCAGGTGGGACAGCGCCTCGGTGGGGATGGAGGTCAGGTTGCATTTCTCCAGCGTCAGCTGCTCCAGGCTGTTGAGGCCGCTGAAGGCGCGGTGAGAGATGTAGACGAGGTCATTGTCGCCAACCTCCAGTGACTTGAGGTTGTACAGGTCCTGAAACATGTAGTCCAGTAGGATAACGATCTTGTTCTCGCTGATGTCCAGCTTGGTCAGGTTGCTGAGGCCAGTGAAGACGCCTAGCGGGATGAGCTTCAGGCGGTTGCTGCGGAGACCCAGCGTCCGGAGGTTGAAGAGGTTGTTGAAGGCGCCGGGCTCCACGGCGCTCACGATGTTCTCGTTGAGCTCCAGCTCCTCCAGGTGCGGGAAGCTGGCGAACTCGTCCTGGTTGAGCGTTTTGATGCGGTTCTTGCCTAGGTCCAGCAGGCGCGTCTCGGTGGGGATGCCCTCGGGGACTGCCACAAAGCGCTTGCGGTGGCACAGCACAGCGCGGTCCTGGGCGGAGCACTCGCAGCGGGGCGGGCAGCCCGTGGCCGAGCCTGACAGCACTGAGCCCAGCACCAGCAGGAGGATGGGCTGCCAGCAGGCCAGGAGGGGGCTGGGCATGCTCCTCACGCCCCCCGCCAGCATCCTCTTGCTCACCTGCAGCCGGGAGCAAGCACAGGACAGAGGTGGCGGTTAGGGGGCAGTGTGTGTCTGGATGCCACCCCAAGCCACCTGGGCCCCTCCTGCCCTGTCACGATGACCCTGATGCAGATAGAGAGGCAGGGTCCAGATGCCCAGGCCAGAGGGCCTCTGGCCTCCTCATGCTGCCCCCTCCTTGCCTCTTACCCTGCCTGGAGTCTTCCCAAAGGACCCTCCCAGCATCCTTGGAATGGAGGGGCTCAGGGAAGGGGCGGGTCACCTCAGACAGCCTGGCATTGGCGCCACCTCCTTTACATTTCACAGGCGGTTGACTCCAAGCACACACCCTGCCCTGAATCACAGCTCCCCTGGTGCTCATCAGGGATAAAACCAGACCTGCTGAGCCGCTCTTGGGCTCACAGTGGGGATCAAAGGGGCTCAAGGGCTGAGGCCTCTAGGAACAGCCCCCAAGAAGCCGGAGCAGAGCAACCAGGAGTGTGGCTACCCCTAGCCTGCACGGCCAGGGCTTCTGAGGCTGCTGGGGGCCCCACTCGCTCAGCCCTGAGCCCTGAGTCTCCCCCGGTGCAGACGCCATGCCCCCTCCCCATCAGCTCTGTGGCTGGGTCTGCAGTAAACCAATGGCACCTGACACTGTTCACGGGTCTGTCACCCATGGGGTTCCTGGATTGCTGGGGGACACCCTCATCCAGAAGGCCCAGCCCTGAAGCTGCCCTCCCTCCTCCCCCTGCACCTGCAAATCCAAATCCAGCCTGGACTCCTGGTGGGATCTGTGACTCTCCACTTCCTCTGGGTCCCATCGGTGACCCAGCTCAGGCTCCTGAGCCCAGGGCCCGGAGAATGTCTTTTCCTGCCTCCTGGTCTTGACTCCTGCAGTTCTTTCCTCTGGCAATGCCCCTTCCCTGGCTGTTGAAATTCCATCCACAAGGCCTAATTGAAGTCCGCTGCTCTAAGAAGTGTTTTCTGTTACCCAATAAGAAGTGAAGTGTGCTCCCCTTAAAAAGACCCTCCAGCCGTCACCTGTCTGTCTCTCAGGGCTCCCACCACCTTCTTCCTAGTACCAGAGTTCTGCACAGCTGCTAGTCTGAGGAAGGCACCATCAGATTCCCACAGGCCAGGATAGCCAGGCAACCCTGGAGGAGTGTGCCCCAACTACAGCACCGAGGCTTGTTCAAGCTGAGCTCT
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GTGAGATAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACACCCAAGCCAGGCTCCCACCCCTTGCAGTGGTGCCGCCTGGCAGCCCAGCAGACAGGCTCCCACCCCCATCGGCAGACCTGTCCCCTCCACCTGCGCCCTGCAAAAAGCCAGCCCGGAGCTGGGCCCAGGCCTGCCCCCTAGCCTGCTCCTGATGGTGCCTGGGGCGGGGTGGGCAGGTGGGTGGGGCTGGAACCTCCTTTCCTGTTTTCCTGAGTGATCCCTCCCCACTGGGGAAGAGAAGAGAAAGGAGGAAGAAGAGGAGGAGGAGGAAGAGAAAAACAAGAAACTGAGTTGGAAGAGGGCCCTGGAGCAATCAGGACGTCAAAAGTTTGCATTCCGACTAGCTATAGGAAATAGTTTTTTTCTCTTTTTATTATTTCAAGTTTTCATAAAAATCCATAATTATTGAAACCCAAGTTACAGAGAAAGTTCGTAACTTTTTTATTGAATTATTGACTCTGCCGCGTGTCGGTTCGTCGGCTTTCAACTCCAGTCTGTCAATGCCCCTGTGTAGGTGGGGTCCCCAGGTCTGGGCTTCTGAGGTCCTGGTAGAAGGAGGGCAGGTGGTGAGGGCTGGCGGGGGGCAGCAGGGGACGGAGGCGGGAGGGAGAAAGAGAACGTGTGTAGAAGGGTAGGGAGGAGGTGGGAAGGACTGGAGAGTGAGCAGGTGGCGGCCAGGCCCCTTCCCCTGCCCGGCCGCCCGGGGGTCCCTGCCCCCCGCCCCGGCCTCATATCATCTTCATGTTGAACTTGCGGGGCGCGTCGGCGGAGCTGATGCCTGCGTCCGACTTTCGGGGCACATACTCGATCTCGATGTTGTGCTTTGTGTTGCCCTTGCCCCGGCTCCAGAGAAACAGCAGCACCAGGCAGAAGAGGACGACGCCCAGGAAAGAGATGAAGCCCATGGTGGTGGCGATGATGAGGGTCTTGATGTCGAAGGGGAAAGGCACAGTGGCGCGGGTGCTGTTGGCCTCTCCCTCGCCCGGCTGGTTGGAGATGAAAGCGAAGGTCTTGTTGGGCTGATGGGGCCAGTCGGGCGAGTAGCTGCGCACATGCAGGTGGGCGGGCATGGAGTCGTTGCCGCCCGCGTTGGCCGCGATGCACAGGTACGTGCCGTTGTCCTGTACCTGGGCGTAGCGCACCTCCAGCGTGCCATCAGGGAAGACTGTGAGCCGCCCATTGCTCTTGGCTGAGACCAGGTGCTTTCGGGGTGAGAGCCAGAGGATGGCGGGCGGCGGGTCGCCATCGGCCCGGCACACAAACTGCACCGTGTGGCCCTCGTCCACAAACACCTGCTGGGCCTTGCGGTCCCGGATGCGGGCGCGGCGGCAGGTGAAGTAGTTGGGCAGTAGCACATCAGGGAAGTCCTTGAACTCCTTGCCCTGGACAAACTCGGGCGTGGCGCACGTGGGCTGCTGCCGGTTGAAGTTGAGCCGCCAGCGGCGCCGGAACACCCACAGGAGCCGACAGTCGCAGGCCAGCGGGTTGGAGTCCAGGATGAGTGTCTCCAGGTTGCCCACCGAGTGGAAGACTGATTCCTCCAGTGTGGTCAGCTGGTTGCCAGAGACATTGAGCACGCGCAGGTAGTTGAGGCCGCGGAAGGCATAGGGCTCCACCACGGCCAGCTGCCCGCCCACCAGCTGGATCTCCTGCAGCCGGAGCAGCTCATGCAACATGGAGCCCTCAATGGTGCTGATGGGGTTGTAGGAGAGGTTGAGGAAGTGGAGATAGACTAGGTGGCGGACGGCCAGGTAGGGCACAGCGGTCAGATTGCAGTGTGTGATGGACAGGGACGTCAGGTTGAGGCCGTAGAGGCAGTTGGGTGTCATGGTGTCCAAGTAGGGCCAGTGGGAGATCTCCAAGACCTTGAGTCGGTACAGCCTCTTGAAGGAGTAGTCCCGGATGGCATTGATGTTGAGGTGCCGGAGCCTCAGGACGATGAGGCCGTGCAGGTGGGACAGCGCCTCGGTGGGGATGGAGGTCAGGTTGCATTTCTCCAGCGTCAGCTGCTCCAGGCTGTTGAGGCCGCTGAAGGCGCGGTGAGAGATGTAGACGAGGTCATTGTCGCCAACCTCCAGTGACTTGAGGTTGTACAGGTCCTGAAACATGTAGTCCAGTAGGATAACGATCTTGTTCTCGCTGATGTCCAGCTTGGTCAGGTTGCTGAGGCCAGTGAAGACGCCTAGCGGGATGAGCTTCAGGCGGTTGCTGCGGAGACCCAGCGTCCGGAGGTTGAAGAGGTTGTTGAAGGCGCCGGGCTCCACGGCGCTCACGATGTTCTCGTTGAGCTCCAGCTCCTCCAGGTGCGGGAAGCTGGCGAACTCGTCCTGGTTGAGCGTTTTGATGCGGTTCTTGCCTAGGTCCAGCAGGCGCGTCTCGGTGGGGATGCCCTCGGGGACTGCCACAAAGCGCTTGCGGTGGCACAGCACAGCGCGGTCCTGGGCGGAGCACTCGCAGCGGGGCGGGCAGCCCGTGGCCGAGCCTGACAGCACTGAGCCCAGCACCAGCAGGAGGATGGGCTGCCAGCAGGCCAGGAGGGGGCTGGGCATGCTCCTCACGCCCCCCGCCAGCATCCTCTTGCTCACCTGCAGCCGGGAGCAAGCACAGGACAGAGGTGGCGGTTAGGGGGCAGTGTGTGTCTGGATGCCACCCCAAGCCACCTGGGCCCCTCCTGCCCTGTCACGATGACCCTGATGCAGATAGAGAGGCAGGGTCCAGATGCCCAGGCCAGAGGGCCTCTGGCCTCCTCATGCTGCCCCCTCCTTGCCTCTTACCCTGCCTGGAGTCTTCCCAAAGGACCCTCCCAGCATCCTTGGAATGGAGGGGCTCAGGGAAGGGGCGGGTCACCTCAGACAGCCTGGCATTGGCGCCACCTCCTTTACATTTCACAGGCGGTTGACTCCAAGCACACACCCTGCCCTGAATCACAGCTCCCCTGGTGCTCATCAGGGATAAAACCAGACCTGCTGAGCCGCTCTTGGGCTCACAGTGGGGATCAAAGGGGCTCAAGGGCTGAGGCCTCTAGGAACAGCCCCCAAGAAGCCGGAGCAGAGCAACCAGGAGTGTGGCTACCCCTAGCCTGCACGGCCAGGGCTTCTGAGGCTGCTGGGGGCCCCACTCGCTCAGCCCTGAGCCCTGAGTCTCCCCCGGTGCAGACGCCATGCCCCCTCCCCATCAGCTCTGTGGCTGGGTCTGCAGTAAACCAATGGCACCTGACACTGTTCACGGGTCTGTCACCCATGGGGTTCCTGGATTGCTGGGGGACACCCTCATCCAGAAGGCCCAGCCCTGAAGCTGCCCTCCCTCCTCCCCCTGCACCTGCAAATCCAAATCCAGCCTGGACTCCTGGTGGGATCTGTGACTCTCCACTTCCTCTGGGTCCCATCGGTGACCCAGCTCAGGCTCCTGAGCCCAGGGCCCGGAGAATGTCTTTTCCTGCCTCCTGGTCTTGACTCCTGCAGTTCTTTCCTCTGGCAATGCCCCTTCCCTGGCTGTTGAAATTCCATCCACAAGGCCTAATTGAAGTCCGCTGCTCTAAGAAGTGTTTTCTGTTACCCAATAAGAAGTGAAGTGTGCTCCCCTTAAAAAGACCCTCCAGCCGTCACCTGTCTGTCTCTCAGGGCTCCCACCACCTTCTTCCTAGTACCAGAGTTCTGCACAGCTGCTAGTCTGAGGAAGGCACCATCAGATTCCCACAGGCCAGGATAGCCAGGCAACCCTGGAGGAGTGTGCCCCAACTACAGCACCGAGGCTTGTTCAAGCTGAGCTCT
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Task1_train_21742
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Consider a variant on Chromosome 15 in gene LINGO1 (leucine rich repeat and Ig domain containing 1). Determine its clinical classification and disease relevance.
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Pathogenic; Intellectual disability, autosomal recessive 64
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TGAGATAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACACCCAAGCCAGGCTCCCACCCCTTGCAGTGGTGCCGCCTGGCAGCCCAGCAGACAGGCTCCCACCCCCATCGGCAGACCTGTCCCCTCCACCTGCGCCCTGCAAAAAGCCAGCCCGGAGCTGGGCCCAGGCCTGCCCCCTAGCCTGCTCCTGATGGTGCCTGGGGCGGGGTGGGCAGGTGGGTGGGGCTGGAACCTCCTTTCCTGTTTTCCTGAGTGATCCCTCCCCACTGGGGAAGAGAAGAGAAAGGAGGAAGAAGAGGAGGAGGAGGAAGAGAAAAACAAGAAACTGAGTTGGAAGAGGGCCCTGGAGCAATCAGGACGTCAAAAGTTTGCATTCCGACTAGCTATAGGAAATAGTTTTTTTCTCTTTTTATTATTTCAAGTTTTCATAAAAATCCATAATTATTGAAACCCAAGTTACAGAGAAAGTTCGTAACTTTTTTATTGAATTATTGACTCTGCCGCGTGTCGGTTCGTCGGCTTTCAACTCCAGTCTGTCAATGCCCCTGTGTAGGTGGGGTCCCCAGGTCTGGGCTTCTGAGGTCCTGGTAGAAGGAGGGCAGGTGGTGAGGGCTGGCGGGGGGCAGCAGGGGACGGAGGCGGGAGGGAGAAAGAGAACGTGTGTAGAAGGGTAGGGAGGAGGTGGGAAGGACTGGAGAGTGAGCAGGTGGCGGCCAGGCCCCTTCCCCTGCCCGGCCGCCCGGGGGTCCCTGCCCCCCGCCCCGGCCTCATATCATCTTCATGTTGAACTTGCGGGGCGCGTCGGCGGAGCTGATGCCTGCGTCCGACTTTCGGGGCACATACTCGATCTCGATGTTGTGCTTTGTGTTGCCCTTGCCCCGGCTCCAGAGAAACAGCAGCACCAGGCAGAAGAGGACGACGCCCAGGAAAGAGATGAAGCCCATGGTGGTGGCGATGATGAGGGTCTTGATGTCGAAGGGGAAAGGCACAGTGGCGCGGGTGCTGTTGGCCTCTCCCTCGCCCGGCTGGTTGGAGATGAAAGCGAAGGTCTTGTTGGGCTGATGGGGCCAGTCGGGCGAGTAGCTGCGCACATGCAGGTGGGCGGGCATGGAGTCGTTGCCGCCCGCGTTGGCCGCGATGCACAGGTACGTGCCGTTGTCCTGTACCTGGGCGTAGCGCACCTCCAGCGTGCCATCAGGGAAGACTGTGAGCCGCCCATTGCTCTTGGCTGAGACCAGGTGCTTTCGGGGTGAGAGCCAGAGGATGGCGGGCGGCGGGTCGCCATCGGCCCGGCACACAAACTGCACCGTGTGGCCCTCGTCCACAAACACCTGCTGGGCCTTGCGGTCCCGGATGCGGGCGCGGCGGCAGGTGAAGTAGTTGGGCAGTAGCACATCAGGGAAGTCCTTGAACTCCTTGCCCTGGACAAACTCGGGCGTGGCGCACGTGGGCTGCTGCCGGTTGAAGTTGAGCCGCCAGCGGCGCCGGAACACCCACAGGAGCCGACAGTCGCAGGCCAGCGGGTTGGAGTCCAGGATGAGTGTCTCCAGGTTGCCCACCGAGTGGAAGACTGATTCCTCCAGTGTGGTCAGCTGGTTGCCAGAGACATTGAGCACGCGCAGGTAGTTGAGGCCGCGGAAGGCATAGGGCTCCACCACGGCCAGCTGCCCGCCCACCAGCTGGATCTCCTGCAGCCGGAGCAGCTCATGCAACATGGAGCCCTCAATGGTGCTGATGGGGTTGTAGGAGAGGTTGAGGAAGCGGAGATAGACTAGGTGGCGGACGGCCAGGTAGGGCACAGCGGTCAGATTGCAGTGTGTGATGGACAGGGACGTCAGGTTGAGGCCGTAGAGGCAGTTGGGTGTCATGGTGTCCAAGTAGGGCCAGTGGGAGATCTCCAAGACCTTGAGTCGGTACAGCCTCTTGAAGGAGTAGTCCCGGATGGCATTGATGTTGAGGTGCCGGAGCCTCAGGACGATGAGGCCGTGCAGGTGGGACAGCGCCTCGGTGGGGATGGAGGTCAGGTTGCATTTCTCCAGCGTCAGCTGCTCCAGGCTGTTGAGGCCGCTGAAGGCGCGGTGAGAGATGTAGACGAGGTCATTGTCGCCAACCTCCAGTGACTTGAGGTTGTACAGGTCCTGAAACATGTAGTCCAGTAGGATAACGATCTTGTTCTCGCTGATGTCCAGCTTGGTCAGGTTGCTGAGGCCAGTGAAGACGCCTAGCGGGATGAGCTTCAGGCGGTTGCTGCGGAGACCCAGCGTCCGGAGGTTGAAGAGGTTGTTGAAGGCGCCGGGCTCCACGGCGCTCACGATGTTCTCGTTGAGCTCCAGCTCCTCCAGGTGCGGGAAGCTGGCGAACTCGTCCTGGTTGAGCGTTTTGATGCGGTTCTTGCCTAGGTCCAGCAGGCGCGTCTCGGTGGGGATGCCCTCGGGGACTGCCACAAAGCGCTTGCGGTGGCACAGCACAGCGCGGTCCTGGGCGGAGCACTCGCAGCGGGGCGGGCAGCCCGTGGCCGAGCCTGACAGCACTGAGCCCAGCACCAGCAGGAGGATGGGCTGCCAGCAGGCCAGGAGGGGGCTGGGCATGCTCCTCACGCCCCCCGCCAGCATCCTCTTGCTCACCTGCAGCCGGGAGCAAGCACAGGACAGAGGTGGCGGTTAGGGGGCAGTGTGTGTCTGGATGCCACCCCAAGCCACCTGGGCCCCTCCTGCCCTGTCACGATGACCCTGATGCAGATAGAGAGGCAGGGTCCAGATGCCCAGGCCAGAGGGCCTCTGGCCTCCTCATGCTGCCCCCTCCTTGCCTCTTACCCTGCCTGGAGTCTTCCCAAAGGACCCTCCCAGCATCCTTGGAATGGAGGGGCTCAGGGAAGGGGCGGGTCACCTCAGACAGCCTGGCATTGGCGCCACCTCCTTTACATTTCACAGGCGGTTGACTCCAAGCACACACCCTGCCCTGAATCACAGCTCCCCTGGTGCTCATCAGGGATAAAACCAGACCTGCTGAGCCGCTCTTGGGCTCACAGTGGGGATCAAAGGGGCTCAAGGGCTGAGGCCTCTAGGAACAGCCCCCAAGAAGCCGGAGCAGAGCAACCAGGAGTGTGGCTACCCCTAGCCTGCACGGCCAGGGCTTCTGAGGCTGCTGGGGGCCCCACTCGCTCAGCCCTGAGCCCTGAGTCTCCCCCGGTGCAGACGCCATGCCCCCTCCCCATCAGCTCTGTGGCTGGGTCTGCAGTAAACCAATGGCACCTGACACTGTTCACGGGTCTGTCACCCATGGGGTTCCTGGATTGCTGGGGGACACCCTCATCCAGAAGGCCCAGCCCTGAAGCTGCCCTCCCTCCTCCCCCTGCACCTGCAAATCCAAATCCAGCCTGGACTCCTGGTGGGATCTGTGACTCTCCACTTCCTCTGGGTCCCATCGGTGACCCAGCTCAGGCTCCTGAGCCCAGGGCCCGGAGAATGTCTTTTCCTGCCTCCTGGTCTTGACTCCTGCAGTTCTTTCCTCTGGCAATGCCCCTTCCCTGGCTGTTGAAATTCCATCCACAAGGCCTAATTGAAGTCCGCTGCTCTAAGAAGTGTTTTCTGTTACCCAATAAGAAGTGAAGTGTGCTCCCCTTAAAAAGACCCTCCAGCCGTCACCTGTCTGTCTCTCAGGGCTCCCACCACCTTCTTCCTAGTACCAGAGTTCTGCACAGCTGCTAGTCTGAGGAAGGCACCATCAGATTCCCACAGGCCAGGATAGCCAGGCAACCCTGGAGGAGTGTGCCCCAACTACAGCACCGAGGCTTGTTCAAGCTGAGCTCTG
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TGAGATAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACACCCAAGCCAGGCTCCCACCCCTTGCAGTGGTGCCGCCTGGCAGCCCAGCAGACAGGCTCCCACCCCCATCGGCAGACCTGTCCCCTCCACCTGCGCCCTGCAAAAAGCCAGCCCGGAGCTGGGCCCAGGCCTGCCCCCTAGCCTGCTCCTGATGGTGCCTGGGGCGGGGTGGGCAGGTGGGTGGGGCTGGAACCTCCTTTCCTGTTTTCCTGAGTGATCCCTCCCCACTGGGGAAGAGAAGAGAAAGGAGGAAGAAGAGGAGGAGGAGGAAGAGAAAAACAAGAAACTGAGTTGGAAGAGGGCCCTGGAGCAATCAGGACGTCAAAAGTTTGCATTCCGACTAGCTATAGGAAATAGTTTTTTTCTCTTTTTATTATTTCAAGTTTTCATAAAAATCCATAATTATTGAAACCCAAGTTACAGAGAAAGTTCGTAACTTTTTTATTGAATTATTGACTCTGCCGCGTGTCGGTTCGTCGGCTTTCAACTCCAGTCTGTCAATGCCCCTGTGTAGGTGGGGTCCCCAGGTCTGGGCTTCTGAGGTCCTGGTAGAAGGAGGGCAGGTGGTGAGGGCTGGCGGGGGGCAGCAGGGGACGGAGGCGGGAGGGAGAAAGAGAACGTGTGTAGAAGGGTAGGGAGGAGGTGGGAAGGACTGGAGAGTGAGCAGGTGGCGGCCAGGCCCCTTCCCCTGCCCGGCCGCCCGGGGGTCCCTGCCCCCCGCCCCGGCCTCATATCATCTTCATGTTGAACTTGCGGGGCGCGTCGGCGGAGCTGATGCCTGCGTCCGACTTTCGGGGCACATACTCGATCTCGATGTTGTGCTTTGTGTTGCCCTTGCCCCGGCTCCAGAGAAACAGCAGCACCAGGCAGAAGAGGACGACGCCCAGGAAAGAGATGAAGCCCATGGTGGTGGCGATGATGAGGGTCTTGATGTCGAAGGGGAAAGGCACAGTGGCGCGGGTGCTGTTGGCCTCTCCCTCGCCCGGCTGGTTGGAGATGAAAGCGAAGGTCTTGTTGGGCTGATGGGGCCAGTCGGGCGAGTAGCTGCGCACATGCAGGTGGGCGGGCATGGAGTCGTTGCCGCCCGCGTTGGCCGCGATGCACAGGTACGTGCCGTTGTCCTGTACCTGGGCGTAGCGCACCTCCAGCGTGCCATCAGGGAAGACTGTGAGCCGCCCATTGCTCTTGGCTGAGACCAGGTGCTTTCGGGGTGAGAGCCAGAGGATGGCGGGCGGCGGGTCGCCATCGGCCCGGCACACAAACTGCACCGTGTGGCCCTCGTCCACAAACACCTGCTGGGCCTTGCGGTCCCGGATGCGGGCGCGGCGGCAGGTGAAGTAGTTGGGCAGTAGCACATCAGGGAAGTCCTTGAACTCCTTGCCCTGGACAAACTCGGGCGTGGCGCACGTGGGCTGCTGCCGGTTGAAGTTGAGCCGCCAGCGGCGCCGGAACACCCACAGGAGCCGACAGTCGCAGGCCAGCGGGTTGGAGTCCAGGATGAGTGTCTCCAGGTTGCCCACCGAGTGGAAGACTGATTCCTCCAGTGTGGTCAGCTGGTTGCCAGAGACATTGAGCACGCGCAGGTAGTTGAGGCCGCGGAAGGCATAGGGCTCCACCACGGCCAGCTGCCCGCCCACCAGCTGGATCTCCTGCAGCCGGAGCAGCTCATGCAACATGGAGCCCTCAATGGTGCTGATGGGGTTGTAGGAGAGGTTGAGGAAGCAGAGATAGACTAGGTGGCGGACGGCCAGGTAGGGCACAGCGGTCAGATTGCAGTGTGTGATGGACAGGGACGTCAGGTTGAGGCCGTAGAGGCAGTTGGGTGTCATGGTGTCCAAGTAGGGCCAGTGGGAGATCTCCAAGACCTTGAGTCGGTACAGCCTCTTGAAGGAGTAGTCCCGGATGGCATTGATGTTGAGGTGCCGGAGCCTCAGGACGATGAGGCCGTGCAGGTGGGACAGCGCCTCGGTGGGGATGGAGGTCAGGTTGCATTTCTCCAGCGTCAGCTGCTCCAGGCTGTTGAGGCCGCTGAAGGCGCGGTGAGAGATGTAGACGAGGTCATTGTCGCCAACCTCCAGTGACTTGAGGTTGTACAGGTCCTGAAACATGTAGTCCAGTAGGATAACGATCTTGTTCTCGCTGATGTCCAGCTTGGTCAGGTTGCTGAGGCCAGTGAAGACGCCTAGCGGGATGAGCTTCAGGCGGTTGCTGCGGAGACCCAGCGTCCGGAGGTTGAAGAGGTTGTTGAAGGCGCCGGGCTCCACGGCGCTCACGATGTTCTCGTTGAGCTCCAGCTCCTCCAGGTGCGGGAAGCTGGCGAACTCGTCCTGGTTGAGCGTTTTGATGCGGTTCTTGCCTAGGTCCAGCAGGCGCGTCTCGGTGGGGATGCCCTCGGGGACTGCCACAAAGCGCTTGCGGTGGCACAGCACAGCGCGGTCCTGGGCGGAGCACTCGCAGCGGGGCGGGCAGCCCGTGGCCGAGCCTGACAGCACTGAGCCCAGCACCAGCAGGAGGATGGGCTGCCAGCAGGCCAGGAGGGGGCTGGGCATGCTCCTCACGCCCCCCGCCAGCATCCTCTTGCTCACCTGCAGCCGGGAGCAAGCACAGGACAGAGGTGGCGGTTAGGGGGCAGTGTGTGTCTGGATGCCACCCCAAGCCACCTGGGCCCCTCCTGCCCTGTCACGATGACCCTGATGCAGATAGAGAGGCAGGGTCCAGATGCCCAGGCCAGAGGGCCTCTGGCCTCCTCATGCTGCCCCCTCCTTGCCTCTTACCCTGCCTGGAGTCTTCCCAAAGGACCCTCCCAGCATCCTTGGAATGGAGGGGCTCAGGGAAGGGGCGGGTCACCTCAGACAGCCTGGCATTGGCGCCACCTCCTTTACATTTCACAGGCGGTTGACTCCAAGCACACACCCTGCCCTGAATCACAGCTCCCCTGGTGCTCATCAGGGATAAAACCAGACCTGCTGAGCCGCTCTTGGGCTCACAGTGGGGATCAAAGGGGCTCAAGGGCTGAGGCCTCTAGGAACAGCCCCCAAGAAGCCGGAGCAGAGCAACCAGGAGTGTGGCTACCCCTAGCCTGCACGGCCAGGGCTTCTGAGGCTGCTGGGGGCCCCACTCGCTCAGCCCTGAGCCCTGAGTCTCCCCCGGTGCAGACGCCATGCCCCCTCCCCATCAGCTCTGTGGCTGGGTCTGCAGTAAACCAATGGCACCTGACACTGTTCACGGGTCTGTCACCCATGGGGTTCCTGGATTGCTGGGGGACACCCTCATCCAGAAGGCCCAGCCCTGAAGCTGCCCTCCCTCCTCCCCCTGCACCTGCAAATCCAAATCCAGCCTGGACTCCTGGTGGGATCTGTGACTCTCCACTTCCTCTGGGTCCCATCGGTGACCCAGCTCAGGCTCCTGAGCCCAGGGCCCGGAGAATGTCTTTTCCTGCCTCCTGGTCTTGACTCCTGCAGTTCTTTCCTCTGGCAATGCCCCTTCCCTGGCTGTTGAAATTCCATCCACAAGGCCTAATTGAAGTCCGCTGCTCTAAGAAGTGTTTTCTGTTACCCAATAAGAAGTGAAGTGTGCTCCCCTTAAAAAGACCCTCCAGCCGTCACCTGTCTGTCTCTCAGGGCTCCCACCACCTTCTTCCTAGTACCAGAGTTCTGCACAGCTGCTAGTCTGAGGAAGGCACCATCAGATTCCCACAGGCCAGGATAGCCAGGCAACCCTGGAGGAGTGTGCCCCAACTACAGCACCGAGGCTTGTTCAAGCTGAGCTCTG
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Task1_train_21743
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A sequence alteration has been identified in LINGO1 (leucine rich repeat and Ig domain containing 1) on Chromosome 15. Is it disease-inducing or harmless?
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Pathogenic; Intellectual disability, autosomal recessive 64
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TAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACACCCAAGCCAGGCTCCCACCCCTTGCAGTGGTGCCGCCTGGCAGCCCAGCAGACAGGCTCCCACCCCCATCGGCAGACCTGTCCCCTCCACCTGCGCCCTGCAAAAAGCCAGCCCGGAGCTGGGCCCAGGCCTGCCCCCTAGCCTGCTCCTGATGGTGCCTGGGGCGGGGTGGGCAGGTGGGTGGGGCTGGAACCTCCTTTCCTGTTTTCCTGAGTGATCCCTCCCCACTGGGGAAGAGAAGAGAAAGGAGGAAGAAGAGGAGGAGGAGGAAGAGAAAAACAAGAAACTGAGTTGGAAGAGGGCCCTGGAGCAATCAGGACGTCAAAAGTTTGCATTCCGACTAGCTATAGGAAATAGTTTTTTTCTCTTTTTATTATTTCAAGTTTTCATAAAAATCCATAATTATTGAAACCCAAGTTACAGAGAAAGTTCGTAACTTTTTTATTGAATTATTGACTCTGCCGCGTGTCGGTTCGTCGGCTTTCAACTCCAGTCTGTCAATGCCCCTGTGTAGGTGGGGTCCCCAGGTCTGGGCTTCTGAGGTCCTGGTAGAAGGAGGGCAGGTGGTGAGGGCTGGCGGGGGGCAGCAGGGGACGGAGGCGGGAGGGAGAAAGAGAACGTGTGTAGAAGGGTAGGGAGGAGGTGGGAAGGACTGGAGAGTGAGCAGGTGGCGGCCAGGCCCCTTCCCCTGCCCGGCCGCCCGGGGGTCCCTGCCCCCCGCCCCGGCCTCATATCATCTTCATGTTGAACTTGCGGGGCGCGTCGGCGGAGCTGATGCCTGCGTCCGACTTTCGGGGCACATACTCGATCTCGATGTTGTGCTTTGTGTTGCCCTTGCCCCGGCTCCAGAGAAACAGCAGCACCAGGCAGAAGAGGACGACGCCCAGGAAAGAGATGAAGCCCATGGTGGTGGCGATGATGAGGGTCTTGATGTCGAAGGGGAAAGGCACAGTGGCGCGGGTGCTGTTGGCCTCTCCCTCGCCCGGCTGGTTGGAGATGAAAGCGAAGGTCTTGTTGGGCTGATGGGGCCAGTCGGGCGAGTAGCTGCGCACATGCAGGTGGGCGGGCATGGAGTCGTTGCCGCCCGCGTTGGCCGCGATGCACAGGTACGTGCCGTTGTCCTGTACCTGGGCGTAGCGCACCTCCAGCGTGCCATCAGGGAAGACTGTGAGCCGCCCATTGCTCTTGGCTGAGACCAGGTGCTTTCGGGGTGAGAGCCAGAGGATGGCGGGCGGCGGGTCGCCATCGGCCCGGCACACAAACTGCACCGTGTGGCCCTCGTCCACAAACACCTGCTGGGCCTTGCGGTCCCGGATGCGGGCGCGGCGGCAGGTGAAGTAGTTGGGCAGTAGCACATCAGGGAAGTCCTTGAACTCCTTGCCCTGGACAAACTCGGGCGTGGCGCACGTGGGCTGCTGCCGGTTGAAGTTGAGCCGCCAGCGGCGCCGGAACACCCACAGGAGCCGACAGTCGCAGGCCAGCGGGTTGGAGTCCAGGATGAGTGTCTCCAGGTTGCCCACCGAGTGGAAGACTGATTCCTCCAGTGTGGTCAGCTGGTTGCCAGAGACATTGAGCACGCGCAGGTAGTTGAGGCCGCGGAAGGCATAGGGCTCCACCACGGCCAGCTGCCCGCCCACCAGCTGGATCTCCTGCAGCCGGAGCAGCTCATGCAACATGGAGCCCTCAATGGTGCTGATGGGGTTGTAGGAGAGGTTGAGGAAGCGGAGATAGACTAGGTGGCGGACGGCCAGGTAGGGCACAGCGGTCAGATTGCAGTGTGTGATGGACAGGGACGTCAGGTTGAGGCCGTAGAGGCAGTTGGGTGTCATGGTGTCCAAGTAGGGCCAGTGGGAGATCTCCAAGACCTTGAGTCGGTACAGCCTCTTGAAGGAGTAGTCCCGGATGGCATTGATGTTGAGGTGCCGGAGCCTCAGGACGATGAGGCCGTGCAGGTGGGACAGCGCCTCGGTGGGGATGGAGGTCAGGTTGCATTTCTCCAGCGTCAGCTGCTCCAGGCTGTTGAGGCCGCTGAAGGCGCGGTGAGAGATGTAGACGAGGTCATTGTCGCCAACCTCCAGTGACTTGAGGTTGTACAGGTCCTGAAACATGTAGTCCAGTAGGATAACGATCTTGTTCTCGCTGATGTCCAGCTTGGTCAGGTTGCTGAGGCCAGTGAAGACGCCTAGCGGGATGAGCTTCAGGCGGTTGCTGCGGAGACCCAGCGTCCGGAGGTTGAAGAGGTTGTTGAAGGCGCCGGGCTCCACGGCGCTCACGATGTTCTCGTTGAGCTCCAGCTCCTCCAGGTGCGGGAAGCTGGCGAACTCGTCCTGGTTGAGCGTTTTGATGCGGTTCTTGCCTAGGTCCAGCAGGCGCGTCTCGGTGGGGATGCCCTCGGGGACTGCCACAAAGCGCTTGCGGTGGCACAGCACAGCGCGGTCCTGGGCGGAGCACTCGCAGCGGGGCGGGCAGCCCGTGGCCGAGCCTGACAGCACTGAGCCCAGCACCAGCAGGAGGATGGGCTGCCAGCAGGCCAGGAGGGGGCTGGGCATGCTCCTCACGCCCCCCGCCAGCATCCTCTTGCTCACCTGCAGCCGGGAGCAAGCACAGGACAGAGGTGGCGGTTAGGGGGCAGTGTGTGTCTGGATGCCACCCCAAGCCACCTGGGCCCCTCCTGCCCTGTCACGATGACCCTGATGCAGATAGAGAGGCAGGGTCCAGATGCCCAGGCCAGAGGGCCTCTGGCCTCCTCATGCTGCCCCCTCCTTGCCTCTTACCCTGCCTGGAGTCTTCCCAAAGGACCCTCCCAGCATCCTTGGAATGGAGGGGCTCAGGGAAGGGGCGGGTCACCTCAGACAGCCTGGCATTGGCGCCACCTCCTTTACATTTCACAGGCGGTTGACTCCAAGCACACACCCTGCCCTGAATCACAGCTCCCCTGGTGCTCATCAGGGATAAAACCAGACCTGCTGAGCCGCTCTTGGGCTCACAGTGGGGATCAAAGGGGCTCAAGGGCTGAGGCCTCTAGGAACAGCCCCCAAGAAGCCGGAGCAGAGCAACCAGGAGTGTGGCTACCCCTAGCCTGCACGGCCAGGGCTTCTGAGGCTGCTGGGGGCCCCACTCGCTCAGCCCTGAGCCCTGAGTCTCCCCCGGTGCAGACGCCATGCCCCCTCCCCATCAGCTCTGTGGCTGGGTCTGCAGTAAACCAATGGCACCTGACACTGTTCACGGGTCTGTCACCCATGGGGTTCCTGGATTGCTGGGGGACACCCTCATCCAGAAGGCCCAGCCCTGAAGCTGCCCTCCCTCCTCCCCCTGCACCTGCAAATCCAAATCCAGCCTGGACTCCTGGTGGGATCTGTGACTCTCCACTTCCTCTGGGTCCCATCGGTGACCCAGCTCAGGCTCCTGAGCCCAGGGCCCGGAGAATGTCTTTTCCTGCCTCCTGGTCTTGACTCCTGCAGTTCTTTCCTCTGGCAATGCCCCTTCCCTGGCTGTTGAAATTCCATCCACAAGGCCTAATTGAAGTCCGCTGCTCTAAGAAGTGTTTTCTGTTACCCAATAAGAAGTGAAGTGTGCTCCCCTTAAAAAGACCCTCCAGCCGTCACCTGTCTGTCTCTCAGGGCTCCCACCACCTTCTTCCTAGTACCAGAGTTCTGCACAGCTGCTAGTCTGAGGAAGGCACCATCAGATTCCCACAGGCCAGGATAGCCAGGCAACCCTGGAGGAGTGTGCCCCAACTACAGCACCGAGGCTTGTTCAAGCTGAGCTCTGAAGCC
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TAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACACCCAAGCCAGGCTCCCACCCCTTGCAGTGGTGCCGCCTGGCAGCCCAGCAGACAGGCTCCCACCCCCATCGGCAGACCTGTCCCCTCCACCTGCGCCCTGCAAAAAGCCAGCCCGGAGCTGGGCCCAGGCCTGCCCCCTAGCCTGCTCCTGATGGTGCCTGGGGCGGGGTGGGCAGGTGGGTGGGGCTGGAACCTCCTTTCCTGTTTTCCTGAGTGATCCCTCCCCACTGGGGAAGAGAAGAGAAAGGAGGAAGAAGAGGAGGAGGAGGAAGAGAAAAACAAGAAACTGAGTTGGAAGAGGGCCCTGGAGCAATCAGGACGTCAAAAGTTTGCATTCCGACTAGCTATAGGAAATAGTTTTTTTCTCTTTTTATTATTTCAAGTTTTCATAAAAATCCATAATTATTGAAACCCAAGTTACAGAGAAAGTTCGTAACTTTTTTATTGAATTATTGACTCTGCCGCGTGTCGGTTCGTCGGCTTTCAACTCCAGTCTGTCAATGCCCCTGTGTAGGTGGGGTCCCCAGGTCTGGGCTTCTGAGGTCCTGGTAGAAGGAGGGCAGGTGGTGAGGGCTGGCGGGGGGCAGCAGGGGACGGAGGCGGGAGGGAGAAAGAGAACGTGTGTAGAAGGGTAGGGAGGAGGTGGGAAGGACTGGAGAGTGAGCAGGTGGCGGCCAGGCCCCTTCCCCTGCCCGGCCGCCCGGGGGTCCCTGCCCCCCGCCCCGGCCTCATATCATCTTCATGTTGAACTTGCGGGGCGCGTCGGCGGAGCTGATGCCTGCGTCCGACTTTCGGGGCACATACTCGATCTCGATGTTGTGCTTTGTGTTGCCCTTGCCCCGGCTCCAGAGAAACAGCAGCACCAGGCAGAAGAGGACGACGCCCAGGAAAGAGATGAAGCCCATGGTGGTGGCGATGATGAGGGTCTTGATGTCGAAGGGGAAAGGCACAGTGGCGCGGGTGCTGTTGGCCTCTCCCTCGCCCGGCTGGTTGGAGATGAAAGCGAAGGTCTTGTTGGGCTGATGGGGCCAGTCGGGCGAGTAGCTGCGCACATGCAGGTGGGCGGGCATGGAGTCGTTGCCGCCCGCGTTGGCCGCGATGCACAGGTACGTGCCGTTGTCCTGTACCTGGGCGTAGCGCACCTCCAGCGTGCCATCAGGGAAGACTGTGAGCCGCCCATTGCTCTTGGCTGAGACCAGGTGCTTTCGGGGTGAGAGCCAGAGGATGGCGGGCGGCGGGTCGCCATCGGCCCGGCACACAAACTGCACCGTGTGGCCCTCGTCCACAAACACCTGCTGGGCCTTGCGGTCCCGGATGCGGGCGCGGCGGCAGGTGAAGTAGTTGGGCAGTAGCACATCAGGGAAGTCCTTGAACTCCTTGCCCTGGACAAACTCGGGCGTGGCGCACGTGGGCTGCTGCCGGTTGAAGTTGAGCCGCCAGCGGCGCCGGAACACCCACAGGAGCCGACAGTCGCAGGCCAGCGGGTTGGAGTCCAGGATGAGTGTCTCCAGGTTGCCCACCGAGTGGAAGACTGATTCCTCCAGTGTGGTCAGCTGGTTGCCAGAGACATTGAGCACGCGCAGGTAGTTGAGGCCGCGGAAGGCATAGGGCTCCACCACGGCCAGCTGCCCGCCCACCAGCTGGATCTCCTGCAGCCGGAGCAGCTCATGCAACATGGAGCCCTCAATGGTGCTGATGGGGTTGTAGGAGAGGTTGAGGAAGCGGAGACAGACTAGGTGGCGGACGGCCAGGTAGGGCACAGCGGTCAGATTGCAGTGTGTGATGGACAGGGACGTCAGGTTGAGGCCGTAGAGGCAGTTGGGTGTCATGGTGTCCAAGTAGGGCCAGTGGGAGATCTCCAAGACCTTGAGTCGGTACAGCCTCTTGAAGGAGTAGTCCCGGATGGCATTGATGTTGAGGTGCCGGAGCCTCAGGACGATGAGGCCGTGCAGGTGGGACAGCGCCTCGGTGGGGATGGAGGTCAGGTTGCATTTCTCCAGCGTCAGCTGCTCCAGGCTGTTGAGGCCGCTGAAGGCGCGGTGAGAGATGTAGACGAGGTCATTGTCGCCAACCTCCAGTGACTTGAGGTTGTACAGGTCCTGAAACATGTAGTCCAGTAGGATAACGATCTTGTTCTCGCTGATGTCCAGCTTGGTCAGGTTGCTGAGGCCAGTGAAGACGCCTAGCGGGATGAGCTTCAGGCGGTTGCTGCGGAGACCCAGCGTCCGGAGGTTGAAGAGGTTGTTGAAGGCGCCGGGCTCCACGGCGCTCACGATGTTCTCGTTGAGCTCCAGCTCCTCCAGGTGCGGGAAGCTGGCGAACTCGTCCTGGTTGAGCGTTTTGATGCGGTTCTTGCCTAGGTCCAGCAGGCGCGTCTCGGTGGGGATGCCCTCGGGGACTGCCACAAAGCGCTTGCGGTGGCACAGCACAGCGCGGTCCTGGGCGGAGCACTCGCAGCGGGGCGGGCAGCCCGTGGCCGAGCCTGACAGCACTGAGCCCAGCACCAGCAGGAGGATGGGCTGCCAGCAGGCCAGGAGGGGGCTGGGCATGCTCCTCACGCCCCCCGCCAGCATCCTCTTGCTCACCTGCAGCCGGGAGCAAGCACAGGACAGAGGTGGCGGTTAGGGGGCAGTGTGTGTCTGGATGCCACCCCAAGCCACCTGGGCCCCTCCTGCCCTGTCACGATGACCCTGATGCAGATAGAGAGGCAGGGTCCAGATGCCCAGGCCAGAGGGCCTCTGGCCTCCTCATGCTGCCCCCTCCTTGCCTCTTACCCTGCCTGGAGTCTTCCCAAAGGACCCTCCCAGCATCCTTGGAATGGAGGGGCTCAGGGAAGGGGCGGGTCACCTCAGACAGCCTGGCATTGGCGCCACCTCCTTTACATTTCACAGGCGGTTGACTCCAAGCACACACCCTGCCCTGAATCACAGCTCCCCTGGTGCTCATCAGGGATAAAACCAGACCTGCTGAGCCGCTCTTGGGCTCACAGTGGGGATCAAAGGGGCTCAAGGGCTGAGGCCTCTAGGAACAGCCCCCAAGAAGCCGGAGCAGAGCAACCAGGAGTGTGGCTACCCCTAGCCTGCACGGCCAGGGCTTCTGAGGCTGCTGGGGGCCCCACTCGCTCAGCCCTGAGCCCTGAGTCTCCCCCGGTGCAGACGCCATGCCCCCTCCCCATCAGCTCTGTGGCTGGGTCTGCAGTAAACCAATGGCACCTGACACTGTTCACGGGTCTGTCACCCATGGGGTTCCTGGATTGCTGGGGGACACCCTCATCCAGAAGGCCCAGCCCTGAAGCTGCCCTCCCTCCTCCCCCTGCACCTGCAAATCCAAATCCAGCCTGGACTCCTGGTGGGATCTGTGACTCTCCACTTCCTCTGGGTCCCATCGGTGACCCAGCTCAGGCTCCTGAGCCCAGGGCCCGGAGAATGTCTTTTCCTGCCTCCTGGTCTTGACTCCTGCAGTTCTTTCCTCTGGCAATGCCCCTTCCCTGGCTGTTGAAATTCCATCCACAAGGCCTAATTGAAGTCCGCTGCTCTAAGAAGTGTTTTCTGTTACCCAATAAGAAGTGAAGTGTGCTCCCCTTAAAAAGACCCTCCAGCCGTCACCTGTCTGTCTCTCAGGGCTCCCACCACCTTCTTCCTAGTACCAGAGTTCTGCACAGCTGCTAGTCTGAGGAAGGCACCATCAGATTCCCACAGGCCAGGATAGCCAGGCAACCCTGGAGGAGTGTGCCCCAACTACAGCACCGAGGCTTGTTCAAGCTGAGCTCTGAAGCC
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Task1_train_21744
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The variant affects gene CIB2 (calcium and integrin binding family member 2), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 48
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CTGAGCACTTACCGAATGTGTGGCAGGCTGTGTGCTAGCACAGACACCTTTCTAACTGGCCAAGTGACATCATGCAATTGCTACCGAGAACAAAACCAGTTCCCCTCCTTGCGGCCCCATCAGCGAAAAGGAGGGGAGGGCCAGAAGCCACATCCTCTGCTTCAGGCCTCTTCGCTCCAGCTGTACCCTCAGGTCAGGCTGGCTCTTCCTGGAACTCTGTCCCTCAGGAAACTTCCTGTTTTGTGTGTCACTTCCCTTCCTATCCACATGTCCCCTTCTCTATAAGGGTGGACAGCTGGCTTGCTACCCCACTCCCAACAACCCCCAGGCCTGGGATGCAGAAAACAGGACTGATCATCTCCAGAGAGAACACCATACGTGCCCCTCCTCCCTGCCCTGACCCTGGGCAGAGCGGGCTCAGGTTGCATTTGTGGGAAATCTACTCTTAGTGACCACTTGGCTATGCAGCTTTTCCTGAAATATAGGCCTGTAAGAGTCCCTCCCTCCTTGGGGGTTTAAGGATTGAGACTGAAGCAACTGTCCCTGTGCCTGAGTGGTTAGCACTCCCAAATGTTAACCAGAGATACTGTCAGGGAATTCACGGAAGGTTCGGGGCATGAATGTGTTTTCCTCCCGATGGCACACGCACTGAAATCAAAGTTAGTGCCTAAAGCAGGAGGCACTGCCTAATGCCGAGAGGTGAGACACCAATGGTGGGATTTCAAGGATCAGAAGCAAAGGTACCCTCAAACATTTCCTAACATTAGCATACATGGAGAGCAAAGGGATGCAAAAGTGTTTTACTACCAGGAGTTCACAAATCTGTGGACAGCACACCAGTGAGGATTCCACGGTGTTGGGGAGGCAGGCAGGGTGGTACTCATGACCCAGAGGCAGAGACAGGAGCAAGAGCCCTTGGGCCCACTGCACCCACAGCTTCACATTGTGAAGGAGGCCGGGAGAAGGGGAACAGGCAGGGGTGGGAAGCAGCCCAACCTTGGGTTTTGGAAAAAGATTGCATAGCTCGTTAAAACCCTGACCTCTTTTTTTTTTTTCCGCTCTGTCCTGGGTGACCAGGGTGTCTGCCAGCACTTGGACACGTCAGACCCCACCACCTCCTGTTGGGTTATCTGCTTTTCCCTCTTTGGGGGGGTGGGGAGCATTTCTGGAGTAGGAAAGGACTGGGGCATGGGGCGGGGTGCGGAGGGCCTGGAGAGAGGCCATGGGTCCCGGGGCTGGACCACAGCGGGGCTGTGGGAAGGGTCCTAACCTTCACAGGCCCCCTTCCTGGTTAAGGTTTTTTTTTTGCTGAAAGGGCCACAGGATATATTTGTGGTGTAAACCCCAGAGGCTGCCACTGCTTTCCTGGGGAGCTTGGAGGCCACACCCATGTGACTGCAGGGCAGGATGGTGGACTTCTAGGCCCCTACAGCCTCGGCAGTGTCCTCAGATCCGGATGTGGAAAGTGCTAGAAAGAGAGAAAGGGCAAGAGAGGGTGAGAGGCCCTGGGTCGGGCAGGTAAAGGCTCCTCAGGGAAAAGCACAGCAGGCCCCAGCCCCATGCTGGACAGTGCCTCATTAGGGAACCCTGCATAGTGGATGCAGGTAATCAACACTGGGGGAAGACGGAGGAACAGCGGTGCCCAGGGAGTTCTGCCCCCACTTATCACTGAAGGGGCCCCCAGGTCTTCAACCTTCCCCCTGCAGGGGACAAAGGCCAGTCACACGTCTAGGGCAAGGGTGGCTTGAACGTGACCTCCTGCTTCCTGGCCGCACACCACTGCTCACAAATAGCGAGTGATAGGGGCCTCAGCCCCAACATCCCGGCCTGCCCTGCTCTGCCCTGCCCAAGCCCGGCCCCTGTAGTGGCAGCACCTGAGGAAGTCAGGGGCCTTGGCAATCATGTCCTCGAAGTCAGCAAAGCCCAGCTTGCCGTCACCGTCCAAGTCAGCCTCCTCAATGACCTTGTCGCACACAAGCACCACCTCCTCCTCATCCAGCTCTGACTTAGTGAGCCGGGCCAGCGTCAGCTCCAGGTCCTCCTTGCAGATGAAGTTGTCAGTGTTGAAGTCTGTAGGGCAGGGGTTGGACATGTTCAAGTCCAGGCTGCGTGCACCCAGGGACCCCTACACTATAGCTCTTCCTCCTAGCTGGCCCCACTACCTCCACCAGCTTCTGATGTCCCCAGAGCATCTCCATGCACACTCTTGGGATACTGGATCCCTGCCCCCAAGAGGGCTTACCCACCAGGCATCGCTTAAACACCCACATCCACCACCAACAACAACCCCACAATGACTAAACCACATCCTGAAGCAGGTCAAAAGTCCAAATCTGAGGTTTCCTGAGAACTTCAGGCTTAGGCCAGATAGCCCTTCCTGGCCTTAGCCCACAGTGGACCCAGTGTTCCCTTTAGACTTCTAGAGCTAAGGAAACTAAGGCCCAAAAAGGCCATGCGATTGAATCAAGGTGGGAGAGCCACTCGGAGATGGAGCAGGGATTCTGACTAGGGCCTATGGGACTCTAAGACCCATGTTTTCTAAACTGCACCCCGTTGCCTCAGTGGTGTGTGACCAGAAGACACGGTGGGTCAGGAGACTCAAAATCAAAAGACCCTTAGAGAGGGGCCTGTGCCTGGCCTTTGTGCACACAGAGCAGGGAACATGGTTTGATTCTACCCAGCAAAAGGCACTACCACTGCCCCAAAGCACAGCAAAATGGTTCAGAGGACCGAGCCATGCCTGGCCACATCAAAGTGAACTCTCTCTTCTTACATTTTGAGCCCAACTACCAGATCTGCGCATGTGCTGTTTCTTCTGCCTGGGGTCCCTTCCCAGCAAACTCCTGGTCATCCTTCAAATTTTGGCTCACACATCACCTCCCAGTGGCGGGGCTTTCTAGCGATAAGGGTCCTCTTCCCCGCAAATGAGCTTCTGTTGCCCATTGGCAAACTCTGACATTAATGGTAGTGACAAAGACCCATCATGTGAGCATTATATGCTCTTTCTCATTTAATTTTCAAAACAAAACTATGAGGCAGGCACAATTGAATCTCCACTATACACATGAAGAAACAGAGAGGTGGCCAGGCGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGCGAGTCCGAGGTGGGTGGATCACGAGGCCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCGGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTCGTTGACAGAGCGAGACTCTATCTCAAAAATAAAAAAAGAAACAGGGAGGTGAAAAGGAGAGGTACCTGCCTGAGGTCACATCCCGGTCATTGTTGGACCCTAGAGCCCAAGCTCTTGGGGTGACTCTGCCCTGTCTATCTCTGCAGAGGCCTGGGCACAACTCTAGGGTATGCGTCAGGGAGTATTCATCTCTGCCCATGGCATGGGACATAGCAAATCTCTGGAAAGATTTGCTGGCTGGCTGGCTGAATTCCTGTGGCCATTTAACCTGAGTAAACTGAGGCTCAGAAGTGAGATGATCATTGTTGCAAATGAGGCCCCAGGCCTCCCCAGCGCCAGACTAGGAGGGCCCTGGCTGCCTCTCCCCACTCCACCCCCAGCCTAGAGCAGCAAGGAAGCCACAGTTCTTCCATGTATTCCTGTGCCCACCCGGTCCATGCGATCTGCACGCCCCTGTCTTGGGCAGACAGCAGCCCGTCCCAGGAGCAATGCTATGGGGTCCAAGACCGGGCGGATGTTGGGTGGAATCTGAGAAGCTTTTTACATGAGCCATGTGGGCATAGTTTGTGGAGGGCAGACTGGCAGGTATTTTCTTTCTAATATGCAAGCAAAACGTGGGTGCACAGACAGAAACCAAAGTCCTCTGAAATAAACATGATAACTAGAAAGTGAAACGTCAGTCTGGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGT
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CTGAGCACTTACCGAATGTGTGGCAGGCTGTGTGCTAGCACAGACACCTTTCTAACTGGCCAAGTGACATCATGCAATTGCTACCGAGAACAAAACCAGTTCCCCTCCTTGCGGCCCCATCAGCGAAAAGGAGGGGAGGGCCAGAAGCCACATCCTCTGCTTCAGGCCTCTTCGCTCCAGCTGTACCCTCAGGTCAGGCTGGCTCTTCCTGGAACTCTGTCCCTCAGGAAACTTCCTGTTTTGTGTGTCACTTCCCTTCCTATCCACATGTCCCCTTCTCTATAAGGGTGGACAGCTGGCTTGCTACCCCACTCCCAACAACCCCCAGGCCTGGGATGCAGAAAACAGGACTGATCATCTCCAGAGAGAACACCATACGTGCCCCTCCTCCCTGCCCTGACCCTGGGCAGAGCGGGCTCAGGTTGCATTTGTGGGAAATCTACTCTTAGTGACCACTTGGCTATGCAGCTTTTCCTGAAATATAGGCCTGTAAGAGTCCCTCCCTCCTTGGGGGTTTAAGGATTGAGACTGAAGCAACTGTCCCTGTGCCTGAGTGGTTAGCACTCCCAAATGTTAACCAGAGATACTGTCAGGGAATTCACGGAAGGTTCGGGGCATGAATGTGTTTTCCTCCCGATGGCACACGCACTGAAATCAAAGTTAGTGCCTAAAGCAGGAGGCACTGCCTAATGCCGAGAGGTGAGACACCAATGGTGGGATTTCAAGGATCAGAAGCAAAGGTACCCTCAAACATTTCCTAACATTAGCATACATGGAGAGCAAAGGGATGCAAAAGTGTTTTACTACCAGGAGTTCACAAATCTGTGGACAGCACACCAGTGAGGATTCCACGGTGTTGGGGAGGCAGGCAGGGTGGTACTCATGACCCAGAGGCAGAGACAGGAGCAAGAGCCCTTGGGCCCACTGCACCCACAGCTTCACATTGTGAAGGAGGCCGGGAGAAGGGGAACAGGCAGGGGTGGGAAGCAGCCCAACCTTGGGTTTTGGAAAAAGATTGCATAGCTCGTTAAAACCCTGACCTCTTTTTTTTTTTTCCGCTCTGTCCTGGGTGACCAGGGTGTCTGCCAGCACTTGGACACGTCAGACCCCACCACCTCCTGTTGGGTTATCTGCTTTTCCCTCTTTGGGGGGGTGGGGAGCATTTCTGGAGTAGGAAAGGACTGGGGCATGGGGCGGGGTGCGGAGGGCCTGGAGAGAGGCCATGGGTCCCGGGGCTGGACCACAGCGGGGCTGTGGGAAGGGTCCTAACCTTCACAGGCCCCCTTCCTGGTTAAGGTTTTTTTTTTGCTGAAAGGGCCACAGGATATATTTGTGGTGTAAACCCCAGAGGCTGCCACTGCTTTCCTGGGGAGCTTGGAGGCCACACCCATGTGACTGCAGGGCAGGATGGTGGACTTCTAGGCCCCTACAGCCTCGGCAGTGTCCTCAGATCCGGATGTGGAAAGTGCTAGAAAGAGAGAAAGGGCAAGAGAGGGTGAGAGGCCCTGGGTCGGGCAGGTAAAGGCTCCTCAGGGAAAAGCACAGCAGGCCCCAGCCCCATGCTGGACAGTGCCTCATTAGGGAACCCTGCATAGTGGATGCAGGTAATCAACACTGGGGGAAGACGGAGGAACAGCGGTGCCCAGGGAGTTCTGCCCCCACTTATCACTGAAGGGGCCCCCAGGTCTTCAACCTTCCCCCTGCAGGGGACAAAGGCCAGTCACACGTCTAGGGCAAGGGTGGCTTGAACGTGACCTCCTGCTTCCTGGCCGCACACCACTGCTCACAAATAGCGAGTGATAGGGGCCTCAGCCCCAACATCCCGGCCTGCCCTGCTCTGCCCTGCCCAAGCCCGGCCCCTGTAGTGGCAGCACCTGAGGAAGTCAGGGGCCTTGGCAATCATGTCCTCGAAGTCAGCAAAGCCCAGCTTGCCGTCACCGTCCAAGTCAGCCTCCTCAATGACCTTGTCGCACACAAGCACCACCTCCTCCTCATCCAGCTCTGACTTAGTGAGCCGGGCCAGCGTCAGCTCCAGGTCCTCCTTGCAGGTGAAGTTGTCAGTGTTGAAGTCTGTAGGGCAGGGGTTGGACATGTTCAAGTCCAGGCTGCGTGCACCCAGGGACCCCTACACTATAGCTCTTCCTCCTAGCTGGCCCCACTACCTCCACCAGCTTCTGATGTCCCCAGAGCATCTCCATGCACACTCTTGGGATACTGGATCCCTGCCCCCAAGAGGGCTTACCCACCAGGCATCGCTTAAACACCCACATCCACCACCAACAACAACCCCACAATGACTAAACCACATCCTGAAGCAGGTCAAAAGTCCAAATCTGAGGTTTCCTGAGAACTTCAGGCTTAGGCCAGATAGCCCTTCCTGGCCTTAGCCCACAGTGGACCCAGTGTTCCCTTTAGACTTCTAGAGCTAAGGAAACTAAGGCCCAAAAAGGCCATGCGATTGAATCAAGGTGGGAGAGCCACTCGGAGATGGAGCAGGGATTCTGACTAGGGCCTATGGGACTCTAAGACCCATGTTTTCTAAACTGCACCCCGTTGCCTCAGTGGTGTGTGACCAGAAGACACGGTGGGTCAGGAGACTCAAAATCAAAAGACCCTTAGAGAGGGGCCTGTGCCTGGCCTTTGTGCACACAGAGCAGGGAACATGGTTTGATTCTACCCAGCAAAAGGCACTACCACTGCCCCAAAGCACAGCAAAATGGTTCAGAGGACCGAGCCATGCCTGGCCACATCAAAGTGAACTCTCTCTTCTTACATTTTGAGCCCAACTACCAGATCTGCGCATGTGCTGTTTCTTCTGCCTGGGGTCCCTTCCCAGCAAACTCCTGGTCATCCTTCAAATTTTGGCTCACACATCACCTCCCAGTGGCGGGGCTTTCTAGCGATAAGGGTCCTCTTCCCCGCAAATGAGCTTCTGTTGCCCATTGGCAAACTCTGACATTAATGGTAGTGACAAAGACCCATCATGTGAGCATTATATGCTCTTTCTCATTTAATTTTCAAAACAAAACTATGAGGCAGGCACAATTGAATCTCCACTATACACATGAAGAAACAGAGAGGTGGCCAGGCGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGCGAGTCCGAGGTGGGTGGATCACGAGGCCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCGGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTCGTTGACAGAGCGAGACTCTATCTCAAAAATAAAAAAAGAAACAGGGAGGTGAAAAGGAGAGGTACCTGCCTGAGGTCACATCCCGGTCATTGTTGGACCCTAGAGCCCAAGCTCTTGGGGTGACTCTGCCCTGTCTATCTCTGCAGAGGCCTGGGCACAACTCTAGGGTATGCGTCAGGGAGTATTCATCTCTGCCCATGGCATGGGACATAGCAAATCTCTGGAAAGATTTGCTGGCTGGCTGGCTGAATTCCTGTGGCCATTTAACCTGAGTAAACTGAGGCTCAGAAGTGAGATGATCATTGTTGCAAATGAGGCCCCAGGCCTCCCCAGCGCCAGACTAGGAGGGCCCTGGCTGCCTCTCCCCACTCCACCCCCAGCCTAGAGCAGCAAGGAAGCCACAGTTCTTCCATGTATTCCTGTGCCCACCCGGTCCATGCGATCTGCACGCCCCTGTCTTGGGCAGACAGCAGCCCGTCCCAGGAGCAATGCTATGGGGTCCAAGACCGGGCGGATGTTGGGTGGAATCTGAGAAGCTTTTTACATGAGCCATGTGGGCATAGTTTGTGGAGGGCAGACTGGCAGGTATTTTCTTTCTAATATGCAAGCAAAACGTGGGTGCACAGACAGAAACCAAAGTCCTCTGAAATAAACATGATAACTAGAAAGTGAAACGTCAGTCTGGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGT
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Task1_train_21745
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This mutation is located in gene CIB2 (calcium and integrin binding family member 2) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Retinal dystrophy
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ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
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ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCAGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
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Task1_train_21746
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A mutation on Chromosome 15 affecting CIB2 (calcium and integrin binding family member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Hearing impairment
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ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
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ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCAGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
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Task1_train_21747
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Chromosome 15 houses a mutation in gene CIB2 (calcium and integrin binding family member 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 48
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ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
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ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCAGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
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Task1_train_21748
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The gene CIB2 (calcium and integrin binding family member 2), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Usher syndrome type 1J
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ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
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ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCAGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGG
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Task1_train_21749
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A mutation found in CIB2 (calcium and integrin binding family member 2) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Usher syndrome type 1
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GCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGGGCAA
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GCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGGTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGGGCAA
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Task1_train_21750
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Consider this mutation in CIB2 (calcium and integrin binding family member 2) on Chromosome 15. Is this a benign change or a disease-causing variant?
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Pathogenic; Usher syndrome type 1J
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GCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGCTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGGGCAA
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GCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGCCAGACTGTGGACAGCCTGTGTGACCCTGGAGGAGTGACCAAATCCCTCTGAGCCTCGGTTTCCCCATCTGTAAAAAGGGAATAATAATAACACCTTCTTAATTGGGTTGTGATGGGATTAAATGAGCTAAAGTATGTAAGGTGTTGGTACCAGGCCCGGCACATGTAAGAGCTCAGGAAGCATTCTACTGGGTCATGTCACATCATTAAGATGGGCACAGCCAGGGACAGTGGTGCACGCCTGTAGTCCCGCTATTTGGGAGACTGAGGTGGAGGAATCACTTGAGCCCAGGAGTTTGAGGCTTCAGTGAGCCATGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCATGTCTCCAAAAAAAAAAAAAAAAAAAAATGCTGAGCACAGCCAGTGTGTTATCACTGGAGGCACTGCCTCATCTGAAGCAGAAGCAGAAGCACAGATTCGTCCTGTTACCCAGAAGAGCACACAGAGGCTCTGCCTGGATGTGTAGGGCTCTGTCCCCAGCAGAAGAAGATGACAGCCCAGGGCACTGGTGGCCCTCAGCTCAGGCCGTGTCAGGCCAGGATCGTGGGAGGTGGATGTGGGGTCAGATAACTGGACCAGTCAAGCAGCAAGAGCCATACAGCCAGTTCAGGCCCAGGTCTGCTGTCACTCTGCTCCTGTGAATTCTCCCCTAGACCACCTTGGATGCTGCCTCTCCCAGGGAGCTGTACACGGATGCCTTCCTAGATCCCCAAATCACTCATCCTGCAGCCCTTCCATCCCAACTGAGCTAGCGCTTGGCTAGCGCCATTCCGTGCCCAGCCCAGGCCAGTGCGGGAGGCTCAGAGACAGACCACTTGGGTCCTACCCATGAGTGTCTCACCTGCTCCAGCAACCCTCTGAGCTTGCTCTTGAGCCCCTTGCTGGGCCAGACGGGGTGCTGGTCCAGGGCTGAGCCTGGGGCCCATTGTCTCTCAGGACTGAGGTCACAACCAGAGTGCAGGCCCCAAGTGGATGCCATATAGCACTCTGACTCCACCTTCAAGCCACACATCCCAGGCCTGGCAAGGGGCTACTGACGAAGTCCCACTGCAATGGGGAGTTGTGCCCCAAATGCCTTCTTAATGCTGAATGCACTTTACATATTATGGATAAGGAACTCATGAAACGAAACATTCAGATATATATGGTCTGAGGATCAGCAGCATCAGTCTCACCTGGGAACTTGCTCGAAAAGCAGAATCCTGACTCTACTCCACATGTACTGAGCCTGAATTGGCATTTGGACAAGATCCCTGGGGAGTTTAAAATTAAATTTTAACAGGTACGTTAAAGTCTGAGAAATGATGCTATGGATGACCACCATGCTGACCTCAGTGAGAAGCCACAGCCAGACAACGGGGAGACAGAAAAGTTATCTAACAAAGCAGACACAGGTCTGCCAACTACAGCAGGCTTGGGGCCACTTAACAAAGGGACAAGCAAATGAGCACAAGCCCATGGCCTGCAGTTGGGTGGCCACTGATGTACAGCACCCTTACAGAGCCCACATAGCTTATTTATTCAGAGTACAGATGAGGAAACTGAGGCACAGAGAGGTTCTGTGATCTGCTCAGAGCCACGCAGACACAAAGGGTGGAGCTGGGTTCAGCCTAGACCTGGGGGCCTCTGCTGCTGGTCCAGAGGCACAGATCCCCTGCTCGCCAGCAAGAGGTCCTGCACATACCCGGAGGTCTGGCATCTGGATGATGAGGCTCATGGGCACGTGGACGATGGGGCTCTTCCTGTAGTCCATTGGGACGAGGTTGGGGGCCAGCTCATAGAATCGCGAATGCAGCCTTGGAGGAAAGCAGAGAAAAAGCGCTGGAGGGGGTGCCATCCCTAAGCCCCAGCAGCCCGGTGCTGTCCTGCCTAGGCCTCTGCCTCTGCAGAACATCCTCAGCCAGGACCAGGTAAGGGGCCAATGGGAGGCTCTCTGCTCTGCCCACAGGGTGTGAAGTTGGGAGGGAGGTGAGTTCTGCCCAGACCTCTGTGCTGATAACCAGGTTGTGTCCAGGCCTCCCTATTTCCACCACACCCACCCCATCAGCACCACCACCATCACTCCTTGGGCCTGGGTCCAAATCTTTTAATTTTTTCTCCTTTGGGCTCTCATAAGGGTTTTCTATGCTCAGGATACTGTGCTAAGCACTTAACACATCACCTAATTTAATCCTCCTCCACATCACTGTGCAGACAGATGCATCCTGACCCCAGCTTACTGCTCAGCAAACAGGGCTGAAGAGGTTAAGAGTGATTTGTCTAAGGCCACATAACTAGGGAGCATCAAGGGCCATGGGTTGAGCCCAAGATGGGAAATCCAAGCAGAAACTCTTAGCCACTCTTCCCCCTTACACTCCTGAGGGTCCATCAAAGCCTGGGCCCACTTCGTGGCCCCACCACCCCAACTTAAGCCCTGAGGGTTGGGTCTCTCTGGGAGAGCTCTCAGCAGTCCTCACACCCTCAGGAAGCCCCTATGAATGGGTCACCCATAAACTCTCTAACTGGGGGCCATCGGGACCCAGGCTGCTACCCTGGTGGGCCTGGCCCTCCCTCCTCACTGATGGGTCAGGTCCCTAGCTCCTGTCCCAGCCTCCAGGAAATCAAGCCCACCTCAACAAGCTGCATGGACCCTCAAAGGTGTAAGGCATCCTGGCACTGTCTCACTTGGAAGCTCCCTTCCTCCCCGCCCCCTGCCCATTATTCAGTCTTTCTTTGCCCTATGTCCACTTGTCCAGGTCCCTGTCATCCCAGAGAATAGCCCCCCATCCCAAGACAGGTACAAATTGTATTTAGATGACATTGTGAGCTGCATGTGGTGGCCTATGCCTGTAAACCCAGTGTTTTGGGAGGCTGAGGTGGGAGGACCACTTGAGGCCCAGAGTTTGAGACCAGCCTAGGCAACACAGCAAGACCCTGTCTCTACAAAAATGAAAAAAAAATTAGCTGGATATCGTGGCTCAGTCATAGCTACTTGGGAGGCTGAGGCTGGAGGATCACTTGAGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCCCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGCCTCTAAAAACAAAAATTGTGTCCATTAAGTGCTGCCATGGGTGGGACAAGTGTAAGGGGCATTGACTGTGGGCTGAGGTAGGTAACCTGCCTAAAGTGATGTCCTAGGCTGCTGGTGAATGGATTAGGTATGACCCTGTATCTCCCAGGCTTGGGCCGGCCCTGCCACCCCCAAAGCCAGATCAGCCCAGGTCTCCTTTTAAGTGGCTTGACCCTGTGACACACCCCAGGCCCACCTTTATCAAGCCATTCAGCACAGCCACCCAACCTTCCTTGGGTTCTACCAGTTCTTGTGGTCCTGCTGCCTACTGTCCTTAGCAAGGCACCTGACTACTTACCCAGCTCAAACAGATAATAACACCAGCTATCGTTTAGCAAGTGCTTACTCTGTGCCAGGCCCTGAACTAATCTTCTCTGTGGATTGCTTTACTTATTTTAATCCCCAAATCACCCTGAGAGGTAGATATTAGTCTCCCATTTTCAGGTAGGGAAAACTGAGGCTCAAGAATCAAGTGTCTTCCCCATCCTACACAGCCAATGAGCAGTGGGAACAGGACTTGAACCCAGGACCTCTGGACACCAACCACTTGGCTCCTCCCTGCAAGTCAAGCCCTGGTAAGCACATCATCTGCTGGTTCAGAGCCTGTCCAGGGCAA
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Task1_train_21751
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A variant was discovered on Chromosome 15, affecting IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Retinitis pigmentosa 90
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TTTTACAGATTTCCGCTACAGGGGTTACTTAGTTTTGAAAATTTATGCATTTAAACTGAATAAGGCCTGGCCATCTGTGAAGGTAACGCCATTCTTTTATGAAGTAACTACTCATAGTAAGATGTTTTATTCATTTGGGACATTTTTTTCCCCCAGTAAAAAACATTAAAGTATTACTGGATGATGCCAAATAACAGTATCTCTATTTAATCTTCAACTATATATATCTTTTGCTTAATTTTTACATTTGTATATTTATTTATTTACTTAATTTTTTTGTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCAGTCCTCCCACCTCAGCCGCCCGAGTGGCTAGGACTACAGGTGTGCCACCATGCCCAACTAATTTTTTAAAAAGTTTTTTGTAGAGATGGGGTCTCACTATGTTTCCCAGGCTGATCTGGAATACCTAAGCTCAAGCAATCCTTCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCCTGACTTAGCCACTGTGCCTGGCCTACATTTTTATTATTATTTTAATTAATACATGTTTAAGGCCATAATTCAAAAATACTAGCATGTGGTAGATTTAAATTCAGCATAGGCTTTATTTTTATATTTTTTGAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCGTGATCTCGGCTCACTACAACCTCCGCCTTCTGGATTCAAGCTATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCACACACCACAACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCCCCATGTTGGCCAGGCTGGTCTTGGACTCCTGACCTCAAGCGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCCTGAGACTGTAGGCCAGAGCAAGCATAGGCTTTAAAGCCACAGACAGAACCAACATTGAATCTCATCTCTGCTACTTACTGGCTAGAAGGCTTGGGCAAATTTTTTATTCTTATTTTTTCTTTTTTCGTCATTTTTAAATGACAGTAACAGAGTTGCTGTTGTACGGGGTGATGATAAGGATTATATCATGTCAAGCACATGATTACAATGCTTGATCCTCAGGAAGTTCTGAAGATAAGAAACGCAGTTAATGTTCCAGAAAGCTCCCGTGAGGAAGTGTTCCTCCTTCATTTGAATCTCAGGTAGAGAGTGAACTAGAGGCAGAACACATTTCACAAGGTAGCCGAGGTGGGTTAGTAGGTCACACGTGAGACCAGAATTCCTTCTAGTGTCATCTGGGTTTTCTTCTGTATAACAGGCCCTTTGAAGACCCCAATAGCAGCCGGTCACCCATCTATGAATTTACTGCTGCGCAAAACATTTGACCTTTACGCGAATGTCCGACCATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTGCGCTCTTCCGCAGATGACTGTCTCTGCATCTCAGTTTTCTTCATCTGTGCAGTGGGGCTCATAATACTTACCTCTTAGGGCTGGAGTTAACATGAACCCCATTGTCGTAGCAGTGTGTGTGATTAGTCATGCTAGCTGGCACTGTGCAGGCCTGCCACAAATGTTACTGTCTACTCCCCACCCTCTGTCTCCCACTGCGTTGCTGTCACACTCTTTCCAGCAAGGTGGGACTTCCTGTCTTGCAGATTGTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGCGAGCAAGCGCATTGCTGAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAAGCCAACATCATGTGAGCTCCTTGCGGGGGCCGGCACCCCATCTTGCTTTGTTGTGGGAGAGCAGTGACAGGGCTTCCCTTTCTCCTCTTCAGCTTGTTCCTTGATTCCTAATATCTTTGAAAAAGAACTTTGTAACAATCCAAAGATACGGCATCTCTCTTCTGTCGGAGTCTCCTCTTTTCTCCTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCTTGCCTCAGCTTCCCGAGTCACTGGGACTACAGGCACATGCCACCATGACCGGCTAATTTTTGTATTTTCAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGCTCGCCTTGGGCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGCGCCCGGCCTGGAGTCTCCTGTTTACTGCGCCTCCCTGGGCGAATGACAGGAGCAAATGAGGAGGGGATGGTGATTCAGGTCCTGGAAGCTCAAGGAAGGACTGAGGGTTATCAGGAAAGGAAATTGGAGCCTCGGGGTCCCCAGATGCTGTGGCCATCAGCAGAGGCCACATAGCGTACGTTTTAGAAGTGGAATAGTGGGAGGCTTAAAGTAGTGCTAACAATACCTGATGTGTTACTCCAGCAACTTAAATTCTCATCCAGAGGCTGTTAAAGTCCTCTGAATATATTAACAGTTTTCCTAACCTAAGAAAAGCATTGAACATGCAAAATAGTAAAACTATTTAAATTACTATGTTAACCTTTTAAAGCAATTTTAATAATATTAGTGGGTATTTCTTCATTCTTGTTAGATAACACTATAAAAATATAGTCTTCTCTGTTATGATCAAACTATTTTACATTTTTACTCTTTTATACTTTCAGAAGGATCCTAAAACATTTTCAGCTTATATTTTATTAACTACCTAAGAAATAATTTTATTGTAATTGGGATCAGGTAGCTTGGCTTCTGGAACTTAAATGTCTTGAACTTACTTTACTTCTTTGATTTGATTCTTTTCTTTCTGTAAGACTTTTTTTTCAGCAGTTTTTATTTGATTAAATACAGGCGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAAAGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAATGTAAGTATATATTCACACTTACCTGCTACTTTTTATGGTGAATGGTGTCTGTGTGTTGTGGGGATGCAGATTTTGATTACTAAATGCACAAATGTATTCCTTGTAGATGGTACAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAGGTGAGTCTGGCTGCAACCTATTTATTTTAGCCTATGATTTACTTATAAACATCCTAAAATAATTATGGCTTAACATTTTCAATTGAGTATTGTGAAATAGAGTATTTGTTGTAACATATGAATTGAATTCTAACAGTTCAGGTTGTGATATGAATGATTACATGTTGGGTGGCTTGTTCCTTCATTGATTTGCCAAATCATTGCTGGGCTCTTTCTCCCTAATCATTATTAGGTCACTCTTCCCAGTTTTTAAATGTTTGATTGATTGATTGATTTTAAGGTTTTGTTATGTATAGCTAGGTAGGTGGGTGGTCATTGTTACTATTTTTTGGTAACTTTTGACATAATTTCAGACTTACAGAAAAGTTGTAAGAATAGTACAAAGAATTCCCTTGTACTCAGCACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACAT
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TTTTACAGATTTCCGCTACAGGGGTTACTTAGTTTTGAAAATTTATGCATTTAAACTGAATAAGGCCTGGCCATCTGTGAAGGTAACGCCATTCTTTTATGAAGTAACTACTCATAGTAAGATGTTTTATTCATTTGGGACATTTTTTTCCCCCAGTAAAAAACATTAAAGTATTACTGGATGATGCCAAATAACAGTATCTCTATTTAATCTTCAACTATATATATCTTTTGCTTAATTTTTACATTTGTATATTTATTTATTTACTTAATTTTTTTGTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCAGTCCTCCCACCTCAGCCGCCCGAGTGGCTAGGACTACAGGTGTGCCACCATGCCCAACTAATTTTTTAAAAAGTTTTTTGTAGAGATGGGGTCTCACTATGTTTCCCAGGCTGATCTGGAATACCTAAGCTCAAGCAATCCTTCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCCTGACTTAGCCACTGTGCCTGGCCTACATTTTTATTATTATTTTAATTAATACATGTTTAAGGCCATAATTCAAAAATACTAGCATGTGGTAGATTTAAATTCAGCATAGGCTTTATTTTTATATTTTTTGAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCGTGATCTCGGCTCACTACAACCTCCGCCTTCTGGATTCAAGCTATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCACACACCACAACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCCCCATGTTGGCCAGGCTGGTCTTGGACTCCTGACCTCAAGCGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCCTGAGACTGTAGGCCAGAGCAAGCATAGGCTTTAAAGCCACAGACAGAACCAACATTGAATCTCATCTCTGCTACTTACTGGCTAGAAGGCTTGGGCAAATTTTTTATTCTTATTTTTTCTTTTTTCGTCATTTTTAAATGACAGTAACAGAGTTGCTGTTGTACGGGGTGATGATAAGGATTATATCATGTCAAGCACATGATTACAATGCTTGATCCTCAGGAAGTTCTGAAGATAAGAAACGCAGTTAATGTTCCAGAAAGCTCCCGTGAGGAAGTGTTCCTCCTTCATTTGAATCTCAGGTAGAGAGTGAACTAGAGGCAGAACACATTTCACAAGGTAGCCGAGGTGGGTTAGTAGGTCACACGTGAGACCAGAATTCCTTCTAGTGTCATCTGGGTTTTCTTCTGTATAACAGGCCCTTTGAAGACCCCAATAGCAGCCGGTCACCCATCTATGAATTTACTGCTGCGCAAAACATTTGACCTTTACGCGAATGTCCGACCATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTGCGCTCTTCCGCAGATGACTGTCTCTGCATCTCAGTTTTCTTCATCTGTGCAGTGGGGCTCATAATACTTACCTCTTAGGGCTGGAGTTAACATGAACCCCATTGTCGTAGCAGTGTGTGTGATTAGTCATGCTAGCTGGCACTGTGCAGGCCTGCCACAAATGTTACTGTCTACTCCCCACCCTCTGTCTCCCACTGCGTTGCTGTCACACTCTTTCCAGCAAGGTGGGACTTCCTGTCTTGCAGATTGTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGTGAGCAAGCGCATTGCTGAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAAGCCAACATCATGTGAGCTCCTTGCGGGGGCCGGCACCCCATCTTGCTTTGTTGTGGGAGAGCAGTGACAGGGCTTCCCTTTCTCCTCTTCAGCTTGTTCCTTGATTCCTAATATCTTTGAAAAAGAACTTTGTAACAATCCAAAGATACGGCATCTCTCTTCTGTCGGAGTCTCCTCTTTTCTCCTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCTTGCCTCAGCTTCCCGAGTCACTGGGACTACAGGCACATGCCACCATGACCGGCTAATTTTTGTATTTTCAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGCTCGCCTTGGGCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGCGCCCGGCCTGGAGTCTCCTGTTTACTGCGCCTCCCTGGGCGAATGACAGGAGCAAATGAGGAGGGGATGGTGATTCAGGTCCTGGAAGCTCAAGGAAGGACTGAGGGTTATCAGGAAAGGAAATTGGAGCCTCGGGGTCCCCAGATGCTGTGGCCATCAGCAGAGGCCACATAGCGTACGTTTTAGAAGTGGAATAGTGGGAGGCTTAAAGTAGTGCTAACAATACCTGATGTGTTACTCCAGCAACTTAAATTCTCATCCAGAGGCTGTTAAAGTCCTCTGAATATATTAACAGTTTTCCTAACCTAAGAAAAGCATTGAACATGCAAAATAGTAAAACTATTTAAATTACTATGTTAACCTTTTAAAGCAATTTTAATAATATTAGTGGGTATTTCTTCATTCTTGTTAGATAACACTATAAAAATATAGTCTTCTCTGTTATGATCAAACTATTTTACATTTTTACTCTTTTATACTTTCAGAAGGATCCTAAAACATTTTCAGCTTATATTTTATTAACTACCTAAGAAATAATTTTATTGTAATTGGGATCAGGTAGCTTGGCTTCTGGAACTTAAATGTCTTGAACTTACTTTACTTCTTTGATTTGATTCTTTTCTTTCTGTAAGACTTTTTTTTCAGCAGTTTTTATTTGATTAAATACAGGCGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAAAGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAATGTAAGTATATATTCACACTTACCTGCTACTTTTTATGGTGAATGGTGTCTGTGTGTTGTGGGGATGCAGATTTTGATTACTAAATGCACAAATGTATTCCTTGTAGATGGTACAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAGGTGAGTCTGGCTGCAACCTATTTATTTTAGCCTATGATTTACTTATAAACATCCTAAAATAATTATGGCTTAACATTTTCAATTGAGTATTGTGAAATAGAGTATTTGTTGTAACATATGAATTGAATTCTAACAGTTCAGGTTGTGATATGAATGATTACATGTTGGGTGGCTTGTTCCTTCATTGATTTGCCAAATCATTGCTGGGCTCTTTCTCCCTAATCATTATTAGGTCACTCTTCCCAGTTTTTAAATGTTTGATTGATTGATTGATTTTAAGGTTTTGTTATGTATAGCTAGGTAGGTGGGTGGTCATTGTTACTATTTTTTGGTAACTTTTGACATAATTTCAGACTTACAGAAAAGTTGTAAGAATAGTACAAAGAATTCCCTTGTACTCAGCACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACAT
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Task1_train_21752
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Gene IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Retinitis pigmentosa 90
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TCTCAGGTAGAGAGTGAACTAGAGGCAGAACACATTTCACAAGGTAGCCGAGGTGGGTTAGTAGGTCACACGTGAGACCAGAATTCCTTCTAGTGTCATCTGGGTTTTCTTCTGTATAACAGGCCCTTTGAAGACCCCAATAGCAGCCGGTCACCCATCTATGAATTTACTGCTGCGCAAAACATTTGACCTTTACGCGAATGTCCGACCATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTGCGCTCTTCCGCAGATGACTGTCTCTGCATCTCAGTTTTCTTCATCTGTGCAGTGGGGCTCATAATACTTACCTCTTAGGGCTGGAGTTAACATGAACCCCATTGTCGTAGCAGTGTGTGTGATTAGTCATGCTAGCTGGCACTGTGCAGGCCTGCCACAAATGTTACTGTCTACTCCCCACCCTCTGTCTCCCACTGCGTTGCTGTCACACTCTTTCCAGCAAGGTGGGACTTCCTGTCTTGCAGATTGTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGCGAGCAAGCGCATTGCTGAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAAGCCAACATCATGTGAGCTCCTTGCGGGGGCCGGCACCCCATCTTGCTTTGTTGTGGGAGAGCAGTGACAGGGCTTCCCTTTCTCCTCTTCAGCTTGTTCCTTGATTCCTAATATCTTTGAAAAAGAACTTTGTAACAATCCAAAGATACGGCATCTCTCTTCTGTCGGAGTCTCCTCTTTTCTCCTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCTTGCCTCAGCTTCCCGAGTCACTGGGACTACAGGCACATGCCACCATGACCGGCTAATTTTTGTATTTTCAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGCTCGCCTTGGGCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGCGCCCGGCCTGGAGTCTCCTGTTTACTGCGCCTCCCTGGGCGAATGACAGGAGCAAATGAGGAGGGGATGGTGATTCAGGTCCTGGAAGCTCAAGGAAGGACTGAGGGTTATCAGGAAAGGAAATTGGAGCCTCGGGGTCCCCAGATGCTGTGGCCATCAGCAGAGGCCACATAGCGTACGTTTTAGAAGTGGAATAGTGGGAGGCTTAAAGTAGTGCTAACAATACCTGATGTGTTACTCCAGCAACTTAAATTCTCATCCAGAGGCTGTTAAAGTCCTCTGAATATATTAACAGTTTTCCTAACCTAAGAAAAGCATTGAACATGCAAAATAGTAAAACTATTTAAATTACTATGTTAACCTTTTAAAGCAATTTTAATAATATTAGTGGGTATTTCTTCATTCTTGTTAGATAACACTATAAAAATATAGTCTTCTCTGTTATGATCAAACTATTTTACATTTTTACTCTTTTATACTTTCAGAAGGATCCTAAAACATTTTCAGCTTATATTTTATTAACTACCTAAGAAATAATTTTATTGTAATTGGGATCAGGTAGCTTGGCTTCTGGAACTTAAATGTCTTGAACTTACTTTACTTCTTTGATTTGATTCTTTTCTTTCTGTAAGACTTTTTTTTCAGCAGTTTTTATTTGATTAAATACAGGCGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAAAGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAATGTAAGTATATATTCACACTTACCTGCTACTTTTTATGGTGAATGGTGTCTGTGTGTTGTGGGGATGCAGATTTTGATTACTAAATGCACAAATGTATTCCTTGTAGATGGTACAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAGGTGAGTCTGGCTGCAACCTATTTATTTTAGCCTATGATTTACTTATAAACATCCTAAAATAATTATGGCTTAACATTTTCAATTGAGTATTGTGAAATAGAGTATTTGTTGTAACATATGAATTGAATTCTAACAGTTCAGGTTGTGATATGAATGATTACATGTTGGGTGGCTTGTTCCTTCATTGATTTGCCAAATCATTGCTGGGCTCTTTCTCCCTAATCATTATTAGGTCACTCTTCCCAGTTTTTAAATGTTTGATTGATTGATTGATTTTAAGGTTTTGTTATGTATAGCTAGGTAGGTGGGTGGTCATTGTTACTATTTTTTGGTAACTTTTGACATAATTTCAGACTTACAGAAAAGTTGTAAGAATAGTACAAAGAATTCCCTTGTACTCAGCACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCTGTGGACATGGTTTTCTGTTTTATTCAGTGATATATCCATCATCATAATCATGAATATTGATGCATAGGTTGTCCTAACTTGGCTGATGGGGGTCCCTTCACCATGTCTTCTGTGTCCTTTAGACACGGCCCTTTGTTCTTTGAGCCTTGCCTTGCTTTCTGACACAGTAAGATGCTCGAGGCTCATCTGTATTTTCCTAACCTTTGCCCTGGAATCAGCCATTTATCCAAGGAATGCTACTTCCTTTTAGTGGAGAATGATAATTAAAAACTAAAATCTGGGTGCTAGGTGAGATGTTTTATTTTTAAAAACATTCTTTGAAATGCTTTTCTTCCGCTAGTGACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCCAATGGGGTTGCAATTTTTGAGTCGGTAAGGACCCTGACACCTGAAACAGAACTCAGGTCAGAACAGCGTGTGAACTCAGGAGGAGTTATCTGTATAAGTATGCTTTAACTCCAGTTTTTCAAATTGTCAAAACAAAATGATGCTTTTTTTTTTTCTCGAGACGGAGTCTCGCTCTGTCACCCACGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGAGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGATCTCAGATGATCCATCCGCCTTGGCCTCCCAAAGTTGCTGGGATTACAGGTGTGAGCCATTGCACCCAGCCTATGTTTGTTTTTATATACACCCATATATAAACATATATATATGTTTGGTTTATCTCTTCATT
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TCTCAGGTAGAGAGTGAACTAGAGGCAGAACACATTTCACAAGGTAGCCGAGGTGGGTTAGTAGGTCACACGTGAGACCAGAATTCCTTCTAGTGTCATCTGGGTTTTCTTCTGTATAACAGGCCCTTTGAAGACCCCAATAGCAGCCGGTCACCCATCTATGAATTTACTGCTGCGCAAAACATTTGACCTTTACGCGAATGTCCGACCATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTGCGCTCTTCCGCAGATGACTGTCTCTGCATCTCAGTTTTCTTCATCTGTGCAGTGGGGCTCATAATACTTACCTCTTAGGGCTGGAGTTAACATGAACCCCATTGTCGTAGCAGTGTGTGTGATTAGTCATGCTAGCTGGCACTGTGCAGGCCTGCCACAAATGTTACTGTCTACTCCCCACCCTCTGTCTCCCACTGCGTTGCTGTCACACTCTTTCCAGCAAGGTGGGACTTCCTGTCTTGCAGATTGTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGCGAGCAAGCGCATTGCTGAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAAGCCAACATCATGTGAGCTCCTTGCGGGGGCCGGCACCCCATCTTGCTTTGTTGTGGGAGAGCAGTGACAGGGCTTCCCTTTCTCCTCTTCAGCTTGTTCCTTGATTCCTAATATCTTTGAAAAAGAACTTTGTAACAATCCAAAGATACGGCATCTCTCTTCTGTCGGAGTCTCCTCTTTTCTCCTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCTTGCCTCAGCTTCCCGAGTCACTGGGACTACAGGCACATGCCACCATGACCGGCTAATTTTTGTATTTTCAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGCTCGCCTTGGGCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGCGCCCGGCCTGGAGTCTCCTGTTTACTGCGCCTCCCTGGGCGAATGACAGGAGCAAATGAGGAGGGGATGGTGATTCAGGTCCTGGAAGCTCAAGGAAGGACTGAGGGTTATCAGGAAAGGAAATTGGAGCCTCGGGGTCCCCAGATGCTGTGGCCATCAGCAGAGGCCACATAGCGTACGTTTTAGAAGTGGAATAGTGGGAGGCTTAAAGTAGTGCTAACAATACCTGATGTGTTACTCCAGCAACTTAAATTCTCATCCAGAGGCTGTTAAAGTCCTCTGAATATATTAACAGTTTTCCTAACCTAAGAAAAGCATTGAACATGCAAAATAGTAAAACTATTTAAATTACTATGTTAACCTTTTAAAGCAATTTTAATAATATTAGTGGGTATTTCTTCATTCTTGTTAGATAACACTATAAAAATATAGTCTTCTCTGTTATGATCAAACTATTTTACATTTTTACTCTTTTATACTTTCAGAAGGATCCTAAAACATTTTCAGCTTATATTTTATTAACTACCTAAGAAATAATTTTATTGTAATTGGGATCAGGTAGCTTGGCTTCTGGAACTTAAATGTCTTGAACTTACTTTACTTCTTTGATTTGATTCTTTTCTTTCTGTAAGACTTTTTTTTCAGCAGTTTTTATTTGATTAAATACAGACGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAAAGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAATGTAAGTATATATTCACACTTACCTGCTACTTTTTATGGTGAATGGTGTCTGTGTGTTGTGGGGATGCAGATTTTGATTACTAAATGCACAAATGTATTCCTTGTAGATGGTACAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAGGTGAGTCTGGCTGCAACCTATTTATTTTAGCCTATGATTTACTTATAAACATCCTAAAATAATTATGGCTTAACATTTTCAATTGAGTATTGTGAAATAGAGTATTTGTTGTAACATATGAATTGAATTCTAACAGTTCAGGTTGTGATATGAATGATTACATGTTGGGTGGCTTGTTCCTTCATTGATTTGCCAAATCATTGCTGGGCTCTTTCTCCCTAATCATTATTAGGTCACTCTTCCCAGTTTTTAAATGTTTGATTGATTGATTGATTTTAAGGTTTTGTTATGTATAGCTAGGTAGGTGGGTGGTCATTGTTACTATTTTTTGGTAACTTTTGACATAATTTCAGACTTACAGAAAAGTTGTAAGAATAGTACAAAGAATTCCCTTGTACTCAGCACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCTGTGGACATGGTTTTCTGTTTTATTCAGTGATATATCCATCATCATAATCATGAATATTGATGCATAGGTTGTCCTAACTTGGCTGATGGGGGTCCCTTCACCATGTCTTCTGTGTCCTTTAGACACGGCCCTTTGTTCTTTGAGCCTTGCCTTGCTTTCTGACACAGTAAGATGCTCGAGGCTCATCTGTATTTTCCTAACCTTTGCCCTGGAATCAGCCATTTATCCAAGGAATGCTACTTCCTTTTAGTGGAGAATGATAATTAAAAACTAAAATCTGGGTGCTAGGTGAGATGTTTTATTTTTAAAAACATTCTTTGAAATGCTTTTCTTCCGCTAGTGACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCCAATGGGGTTGCAATTTTTGAGTCGGTAAGGACCCTGACACCTGAAACAGAACTCAGGTCAGAACAGCGTGTGAACTCAGGAGGAGTTATCTGTATAAGTATGCTTTAACTCCAGTTTTTCAAATTGTCAAAACAAAATGATGCTTTTTTTTTTTCTCGAGACGGAGTCTCGCTCTGTCACCCACGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGAGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGATCTCAGATGATCCATCCGCCTTGGCCTCCCAAAGTTGCTGGGATTACAGGTGTGAGCCATTGCACCCAGCCTATGTTTGTTTTTATATACACCCATATATAAACATATATATATGTTTGGTTTATCTCTTCATT
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Task1_train_21753
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Here is a genetic alteration in IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Retinitis pigmentosa 90
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ATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTGCGCTCTTCCGCAGATGACTGTCTCTGCATCTCAGTTTTCTTCATCTGTGCAGTGGGGCTCATAATACTTACCTCTTAGGGCTGGAGTTAACATGAACCCCATTGTCGTAGCAGTGTGTGTGATTAGTCATGCTAGCTGGCACTGTGCAGGCCTGCCACAAATGTTACTGTCTACTCCCCACCCTCTGTCTCCCACTGCGTTGCTGTCACACTCTTTCCAGCAAGGTGGGACTTCCTGTCTTGCAGATTGTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGCGAGCAAGCGCATTGCTGAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAAGCCAACATCATGTGAGCTCCTTGCGGGGGCCGGCACCCCATCTTGCTTTGTTGTGGGAGAGCAGTGACAGGGCTTCCCTTTCTCCTCTTCAGCTTGTTCCTTGATTCCTAATATCTTTGAAAAAGAACTTTGTAACAATCCAAAGATACGGCATCTCTCTTCTGTCGGAGTCTCCTCTTTTCTCCTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCTTGCCTCAGCTTCCCGAGTCACTGGGACTACAGGCACATGCCACCATGACCGGCTAATTTTTGTATTTTCAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGCTCGCCTTGGGCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGCGCCCGGCCTGGAGTCTCCTGTTTACTGCGCCTCCCTGGGCGAATGACAGGAGCAAATGAGGAGGGGATGGTGATTCAGGTCCTGGAAGCTCAAGGAAGGACTGAGGGTTATCAGGAAAGGAAATTGGAGCCTCGGGGTCCCCAGATGCTGTGGCCATCAGCAGAGGCCACATAGCGTACGTTTTAGAAGTGGAATAGTGGGAGGCTTAAAGTAGTGCTAACAATACCTGATGTGTTACTCCAGCAACTTAAATTCTCATCCAGAGGCTGTTAAAGTCCTCTGAATATATTAACAGTTTTCCTAACCTAAGAAAAGCATTGAACATGCAAAATAGTAAAACTATTTAAATTACTATGTTAACCTTTTAAAGCAATTTTAATAATATTAGTGGGTATTTCTTCATTCTTGTTAGATAACACTATAAAAATATAGTCTTCTCTGTTATGATCAAACTATTTTACATTTTTACTCTTTTATACTTTCAGAAGGATCCTAAAACATTTTCAGCTTATATTTTATTAACTACCTAAGAAATAATTTTATTGTAATTGGGATCAGGTAGCTTGGCTTCTGGAACTTAAATGTCTTGAACTTACTTTACTTCTTTGATTTGATTCTTTTCTTTCTGTAAGACTTTTTTTTCAGCAGTTTTTATTTGATTAAATACAGGCGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAAAGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAATGTAAGTATATATTCACACTTACCTGCTACTTTTTATGGTGAATGGTGTCTGTGTGTTGTGGGGATGCAGATTTTGATTACTAAATGCACAAATGTATTCCTTGTAGATGGTACAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAGGTGAGTCTGGCTGCAACCTATTTATTTTAGCCTATGATTTACTTATAAACATCCTAAAATAATTATGGCTTAACATTTTCAATTGAGTATTGTGAAATAGAGTATTTGTTGTAACATATGAATTGAATTCTAACAGTTCAGGTTGTGATATGAATGATTACATGTTGGGTGGCTTGTTCCTTCATTGATTTGCCAAATCATTGCTGGGCTCTTTCTCCCTAATCATTATTAGGTCACTCTTCCCAGTTTTTAAATGTTTGATTGATTGATTGATTTTAAGGTTTTGTTATGTATAGCTAGGTAGGTGGGTGGTCATTGTTACTATTTTTTGGTAACTTTTGACATAATTTCAGACTTACAGAAAAGTTGTAAGAATAGTACAAAGAATTCCCTTGTACTCAGCACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCTGTGGACATGGTTTTCTGTTTTATTCAGTGATATATCCATCATCATAATCATGAATATTGATGCATAGGTTGTCCTAACTTGGCTGATGGGGGTCCCTTCACCATGTCTTCTGTGTCCTTTAGACACGGCCCTTTGTTCTTTGAGCCTTGCCTTGCTTTCTGACACAGTAAGATGCTCGAGGCTCATCTGTATTTTCCTAACCTTTGCCCTGGAATCAGCCATTTATCCAAGGAATGCTACTTCCTTTTAGTGGAGAATGATAATTAAAAACTAAAATCTGGGTGCTAGGTGAGATGTTTTATTTTTAAAAACATTCTTTGAAATGCTTTTCTTCCGCTAGTGACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCCAATGGGGTTGCAATTTTTGAGTCGGTAAGGACCCTGACACCTGAAACAGAACTCAGGTCAGAACAGCGTGTGAACTCAGGAGGAGTTATCTGTATAAGTATGCTTTAACTCCAGTTTTTCAAATTGTCAAAACAAAATGATGCTTTTTTTTTTTCTCGAGACGGAGTCTCGCTCTGTCACCCACGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGAGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGATCTCAGATGATCCATCCGCCTTGGCCTCCCAAAGTTGCTGGGATTACAGGTGTGAGCCATTGCACCCAGCCTATGTTTGTTTTTATATACACCCATATATAAACATATATATATGTTTGGTTTATCTCTTCATTTCCCTCCAGGTATTTATTATGTATCCTTCCTTCCTTAAAATATTTTACCAAAAATTGACTGAAAAAGATTGTTGGTCCATATTTTTATACTTAAAAAAATTACTTTAGCTCTTTATTTCTCCAAGTCTTTATTTATTTATTTATTTATTTTTGAGCTAGGGCCTTGTTCTGTCACCCAGGCTGGAGTACACTGGTGTGATCATAGCTCAC
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ATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTGCGCTCTTCCGCAGATGACTGTCTCTGCATCTCAGTTTTCTTCATCTGTGCAGTGGGGCTCATAATACTTACCTCTTAGGGCTGGAGTTAACATGAACCCCATTGTCGTAGCAGTGTGTGTGATTAGTCATGCTAGCTGGCACTGTGCAGGCCTGCCACAAATGTTACTGTCTACTCCCCACCCTCTGTCTCCCACTGCGTTGCTGTCACACTCTTTCCAGCAAGGTGGGACTTCCTGTCTTGCAGATTGTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGCGAGCAAGCGCATTGCTGAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAAGCCAACATCATGTGAGCTCCTTGCGGGGGCCGGCACCCCATCTTGCTTTGTTGTGGGAGAGCAGTGACAGGGCTTCCCTTTCTCCTCTTCAGCTTGTTCCTTGATTCCTAATATCTTTGAAAAAGAACTTTGTAACAATCCAAAGATACGGCATCTCTCTTCTGTCGGAGTCTCCTCTTTTCTCCTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCTTGCCTCAGCTTCCCGAGTCACTGGGACTACAGGCACATGCCACCATGACCGGCTAATTTTTGTATTTTCAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGCTCGCCTTGGGCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGCGCCCGGCCTGGAGTCTCCTGTTTACTGCGCCTCCCTGGGCGAATGACAGGAGCAAATGAGGAGGGGATGGTGATTCAGGTCCTGGAAGCTCAAGGAAGGACTGAGGGTTATCAGGAAAGGAAATTGGAGCCTCGGGGTCCCCAGATGCTGTGGCCATCAGCAGAGGCCACATAGCGTACGTTTTAGAAGTGGAATAGTGGGAGGCTTAAAGTAGTGCTAACAATACCTGATGTGTTACTCCAGCAACTTAAATTCTCATCCAGAGGCTGTTAAAGTCCTCTGAATATATTAACAGTTTTCCTAACCTAAGAAAAGCATTGAACATGCAAAATAGTAAAACTATTTAAATTACTATGTTAACCTTTTAAAGCAATTTTAATAATATTAGTGGGTATTTCTTCATTCTTGTTAGATAACACTATAAAAATATAGTCTTCTCTGTTATGATCAAACTATTTTACATTTTTACTCTTTTATACTTTCAGAAGGATCCTAAAACATTTTCAGCTTATATTTTATTAACTACCTAAGAAATAATTTTATTGTAATTGGGATCAGGTAGCTTGGCTTCTGGAACTTAAATGTCTTGAACTTACTTTACTTCTTTGATTTGATTCTTTTCTTTCTGTAAGACTTTTTTTTCAGCAGTTTTTATTTGATTAAATACAGGCGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAAAGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAATGTAAGTATATATTCACACTTACCTGCTACTTTTTATGGTGAATGGTGTCTGTGTGTTGTGGGGATGCAGATTTTGATTACTAAATGCACAAATGTATTCCTTGTAGACGGTACAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAGGTGAGTCTGGCTGCAACCTATTTATTTTAGCCTATGATTTACTTATAAACATCCTAAAATAATTATGGCTTAACATTTTCAATTGAGTATTGTGAAATAGAGTATTTGTTGTAACATATGAATTGAATTCTAACAGTTCAGGTTGTGATATGAATGATTACATGTTGGGTGGCTTGTTCCTTCATTGATTTGCCAAATCATTGCTGGGCTCTTTCTCCCTAATCATTATTAGGTCACTCTTCCCAGTTTTTAAATGTTTGATTGATTGATTGATTTTAAGGTTTTGTTATGTATAGCTAGGTAGGTGGGTGGTCATTGTTACTATTTTTTGGTAACTTTTGACATAATTTCAGACTTACAGAAAAGTTGTAAGAATAGTACAAAGAATTCCCTTGTACTCAGCACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCTGTGGACATGGTTTTCTGTTTTATTCAGTGATATATCCATCATCATAATCATGAATATTGATGCATAGGTTGTCCTAACTTGGCTGATGGGGGTCCCTTCACCATGTCTTCTGTGTCCTTTAGACACGGCCCTTTGTTCTTTGAGCCTTGCCTTGCTTTCTGACACAGTAAGATGCTCGAGGCTCATCTGTATTTTCCTAACCTTTGCCCTGGAATCAGCCATTTATCCAAGGAATGCTACTTCCTTTTAGTGGAGAATGATAATTAAAAACTAAAATCTGGGTGCTAGGTGAGATGTTTTATTTTTAAAAACATTCTTTGAAATGCTTTTCTTCCGCTAGTGACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCCAATGGGGTTGCAATTTTTGAGTCGGTAAGGACCCTGACACCTGAAACAGAACTCAGGTCAGAACAGCGTGTGAACTCAGGAGGAGTTATCTGTATAAGTATGCTTTAACTCCAGTTTTTCAAATTGTCAAAACAAAATGATGCTTTTTTTTTTTCTCGAGACGGAGTCTCGCTCTGTCACCCACGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGAGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGATCTCAGATGATCCATCCGCCTTGGCCTCCCAAAGTTGCTGGGATTACAGGTGTGAGCCATTGCACCCAGCCTATGTTTGTTTTTATATACACCCATATATAAACATATATATATGTTTGGTTTATCTCTTCATTTCCCTCCAGGTATTTATTATGTATCCTTCCTTCCTTAAAATATTTTACCAAAAATTGACTGAAAAAGATTGTTGGTCCATATTTTTATACTTAAAAAAATTACTTTAGCTCTTTATTTCTCCAAGTCTTTATTTATTTATTTATTTATTTTTGAGCTAGGGCCTTGTTCTGTCACCCAGGCTGGAGTACACTGGTGTGATCATAGCTCAC
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Task1_train_21754
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Mutation context: Chromosome 15, Gene IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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CACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCTGTGGACATGGTTTTCTGTTTTATTCAGTGATATATCCATCATCATAATCATGAATATTGATGCATAGGTTGTCCTAACTTGGCTGATGGGGGTCCCTTCACCATGTCTTCTGTGTCCTTTAGACACGGCCCTTTGTTCTTTGAGCCTTGCCTTGCTTTCTGACACAGTAAGATGCTCGAGGCTCATCTGTATTTTCCTAACCTTTGCCCTGGAATCAGCCATTTATCCAAGGAATGCTACTTCCTTTTAGTGGAGAATGATAATTAAAAACTAAAATCTGGGTGCTAGGTGAGATGTTTTATTTTTAAAAACATTCTTTGAAATGCTTTTCTTCCGCTAGTGACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCCAATGGGGTTGCAATTTTTGAGTCGGTAAGGACCCTGACACCTGAAACAGAACTCAGGTCAGAACAGCGTGTGAACTCAGGAGGAGTTATCTGTATAAGTATGCTTTAACTCCAGTTTTTCAAATTGTCAAAACAAAATGATGCTTTTTTTTTTTCTCGAGACGGAGTCTCGCTCTGTCACCCACGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGAGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGATCTCAGATGATCCATCCGCCTTGGCCTCCCAAAGTTGCTGGGATTACAGGTGTGAGCCATTGCACCCAGCCTATGTTTGTTTTTATATACACCCATATATAAACATATATATATGTTTGGTTTATCTCTTCATTTCCCTCCAGGTATTTATTATGTATCCTTCCTTCCTTAAAATATTTTACCAAAAATTGACTGAAAAAGATTGTTGGTCCATATTTTTATACTTAAAAAAATTACTTTAGCTCTTTATTTCTCCAAGTCTTTATTTATTTATTTATTTATTTTTGAGCTAGGGCCTTGTTCTGTCACCCAGGCTGGAGTACACTGGTGTGATCATAGCTCACTGCAGGCTTGAACTGCTAGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGCACTGTAGTCAGGCACCACCATGCCTGGCTAATTGCTAATTTTTTTGTAGAAATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTTCTTGCCTTGGCCTATCAACGTGTTGCGATTACAGGTGTGAGCTATCACGCCCAACCCAGACTTTATTTCTTCAGTCCATATCAGATGAATTGCACGCAGTAGCTTTCAGTGCATATTTTGTATTGCTGAGGAAAGATGGTTAAGACTCCAGCTTCCCCAGAAGAGGACTGTTAGTTTTTGTCTCTCCCTTGATGATGCTACTTTTCCCGATGTGTAGGTTCATGGGACGGCTCCAGACATTGCAGGCAAGGACATGGCGAATCCCACAGCCCTCCTGCTCAGTGCCGTGATGATGCTGCGCCACATGGGACTTTTTGACCATGCTGCAAGAATTGAGGCTGCGTGTTTTGCTACAATTAAGGACGGAAAGGTAACAGGAATCTTGATTTACTTGTGCTGGGTAAAATGCATTGCTTCCATGTGTTTTATCTGAGTGAAAGGGACAGTGACAGATAATAGTTCTCAGGCGGGCCCAAGCATTTGATGTTGAACAAGGATTCTTAACGTGGGTCCCAGATTGAACAGGGTATGTGTGCACATGTGTGCATTTTCTGAGGTGAGGATCTAGATATTTCATCCAAAAAAAGTTAAGCAGCACTGATGTATAGACATCAGTGTACAGTGGAAAGGTCAGTGGTTTGGGAGGCAGCATCAGGTGCACGCCCAATTATCCTATTGTTAGCTGTGTGACCTTGGCCAAGTTCATTGATTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGTCATAATCTTGGCTCACTGCAACCTGCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGTTGGTCTCGAACTCCTGAGCTCAAGTGATCCTCCCGCCCCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCCAAGTTCATTGATTTTTATAGACAACTTTTTACTCTTCACAACAAACGTCTGTTGAGTGTACCTTATAAGGTGTGAAGAGTAAAATGATGAATAGGGTAAGATGCTGAGCCTCAAGGAGCTGGGAATCTAGTGGCAGATACAGATGCAGATGTACCTCTAATACAATAGTCTTATATGTTACACTGTGTGCATCTATAATACAAAAGCAATACAGAAGTTTTATAAAAGTAATAACTAATATTAATTGAATACTTATGCAACTTTTAAGTTCTTTATATATCATCTCAGCAAAGTTTTTCTATAACTCTTTGAAGTAGATGCTATAATTCCATTTTATAGATGAGGAAACTGAGGTACAGAGAGAATAAATAATATGTCCAAGGTTTTACAGCTCCTAAATGACCCAAGTTGGTATTAACACGCAGTCTGGGCCTTACCCAACAAGCTCCACCGCCTCGGTAAGCAATTGTGGCCTGTGGAAGAAGTGTCGCGGGCTATTCCGAAGTTAGAGGAAATAATGCACTTGAAGACTCATCCCTAATTTGAGGTCCTTTTTAACAAAAATTGTGAAAAATATGCATAACATAAAATTTGCCATTTTAGCCGTATTTAGGTATACAGTTCAATAATGTTAAGTACATTCACATTGTAATGTAACCATCACCATCAGTCATCTCCAGACCAGTTTCATTTTCTCAAACTGAGACTCTGCACCCGTTAAACAGTAACTTTCCCTTCCCCCTCCCATCCTCTGACACCTGCCATTCTGCTTCCTGTCTCTATGAATTTGACTACTCTAGGTACCTCATGTAAGTGGAATCATACAGTATTTGTCCTTTGAGTCTGGCTTATTTCACTTAGCGTAATATCTTCAAAGTTGGTCCCTTCTTTTAAAAAAATTCTGTAATTTGAAATTATATCGTGTGGCCAAAATACAAGAAATTCAGGCTTGTTTTTAACAGCCTGATAGTCACATTGGAGGTCATATGATTTTCTTATTCTTTAAAGTTATATTTGGGAAGTTATAATCTACAGCCCAGTAGAGAGGTGCCTGAATTACATAGTGGGCCCTTTTATTGTGTAGGATGGAAAGATAAAGAGAATTAAATATATTGGGGTCTGTATGCAGGAAAGAAAGGATAAGCTGGTAGAACAGATCAGTTGTATGGGAGGCTTTCTTTCCTAAAGAGGGAGGTTTAAGAGTTAATGATTTAGGCAGGTGTGGTGGTGCATGCCTGTAGTTGCAGCTATAGGCTGAGGCAGGAGGATCACCTTAGCCTCTGAGTTCAAGACCAGCCTGGGCCACATAGTGAGACCCCGTCTCTTAAAAAAAAAAAAAAGAGTTAA
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CACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCTGTGGACATGGTTTTCTGTTTTATTCAGTGATATATCCATCATCATAATCATGAATATTGATGCATAGGTTGTCCTAACTTGGCTGATGGGGGTCCCTTCACCATGTCTTCTGTGTCCTTTAGACACGGCCCTTTGTTCTTTGAGCCTTGCCTTGCTTTCTGACACAGTAAGATGCTCGAGGCTCATCTGTATTTTCCTAACCTTTGCCCTGGAATCAGCCATTTATCCAAGGAATGCTACTTCCTTTTAGTGGAGAATGATAATTAAAAACTAAAATCTGGGTGCTAGGTGAGATGTTTTATTTTTAAAAACATTCTTTGAAATGCTTTTCTTCCGCTAGTGACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCCAATGGGGTTGCAATTTTTGAGTCGGTAAGGACCCTGACACCTGAAACAGAACTCAGGTCAGAACAGCGTGTGAACTCAGGAGGAGTTATCTGTATAAGTATGCTTTAACTCCAGTTTTTCAAATTGTCAAAACAAAATGATGCTTTTTTTTTTTCTCGAGACGGAGTCTCGCTCTGTCACCCACGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGAGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGATCTCAGATGATCCATCCGCCTTGGCCTCCCAAAGTTGCTGGGATTACAGGTGTGAGCCATTGCACCCAGCCTATGTTTGTTTTTATATACACCCATATATAAACATATATATATGTTTGGTTTATCTCTTCATTTCCCTCCAGGTATTTATTATGTATCCTTCCTTCCTTAAAATATTTTACCAAAAATTGACTGAAAAAGATTGTTGGTCCATATTTTTATACTTAAAAAAATTACTTTAGCTCTTTATTTCTCCAAGTCTTTATTTATTTATTTATTTATTTTTGAGCTAGGGCCTTGTTCTGTCACCCAGGCTGGAGTACACTGGTGTGATCATAGCTCACTGCAGGCTTGAACTGCTAGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGCACTGTAGTCAGGCACCACCATGCCTGGCTAATTGCTAATTTTTTTGTAGAAATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTTCTTGCCTTGGCCTATCAACGTGTTGCGATTACAGGTGTGAGCTATCACGCCCAACCCAGACTTTATTTCTTCAGTCCATATCAGATGAATTGCACGCAGTAGCTTTCAGTGCATATTTTGTATTGCTGAGGAAAGATGGTTAAGACTCCAGCTTCCCCAGAAGAGGACTGTTAGTTTTTGTCTCTCCCTTGATGATGCTACTTTTCCCGATGTGTAGGTTCATGGGACGGCTCCAGACATTGCAGGCAAGGACATGGCGAATCCCACAGCCCTCCTGCTCAGTGCCGTGATGATGCTGTGCCACATGGGACTTTTTGACCATGCTGCAAGAATTGAGGCTGCGTGTTTTGCTACAATTAAGGACGGAAAGGTAACAGGAATCTTGATTTACTTGTGCTGGGTAAAATGCATTGCTTCCATGTGTTTTATCTGAGTGAAAGGGACAGTGACAGATAATAGTTCTCAGGCGGGCCCAAGCATTTGATGTTGAACAAGGATTCTTAACGTGGGTCCCAGATTGAACAGGGTATGTGTGCACATGTGTGCATTTTCTGAGGTGAGGATCTAGATATTTCATCCAAAAAAAGTTAAGCAGCACTGATGTATAGACATCAGTGTACAGTGGAAAGGTCAGTGGTTTGGGAGGCAGCATCAGGTGCACGCCCAATTATCCTATTGTTAGCTGTGTGACCTTGGCCAAGTTCATTGATTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGTCATAATCTTGGCTCACTGCAACCTGCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGTTGGTCTCGAACTCCTGAGCTCAAGTGATCCTCCCGCCCCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCCAAGTTCATTGATTTTTATAGACAACTTTTTACTCTTCACAACAAACGTCTGTTGAGTGTACCTTATAAGGTGTGAAGAGTAAAATGATGAATAGGGTAAGATGCTGAGCCTCAAGGAGCTGGGAATCTAGTGGCAGATACAGATGCAGATGTACCTCTAATACAATAGTCTTATATGTTACACTGTGTGCATCTATAATACAAAAGCAATACAGAAGTTTTATAAAAGTAATAACTAATATTAATTGAATACTTATGCAACTTTTAAGTTCTTTATATATCATCTCAGCAAAGTTTTTCTATAACTCTTTGAAGTAGATGCTATAATTCCATTTTATAGATGAGGAAACTGAGGTACAGAGAGAATAAATAATATGTCCAAGGTTTTACAGCTCCTAAATGACCCAAGTTGGTATTAACACGCAGTCTGGGCCTTACCCAACAAGCTCCACCGCCTCGGTAAGCAATTGTGGCCTGTGGAAGAAGTGTCGCGGGCTATTCCGAAGTTAGAGGAAATAATGCACTTGAAGACTCATCCCTAATTTGAGGTCCTTTTTAACAAAAATTGTGAAAAATATGCATAACATAAAATTTGCCATTTTAGCCGTATTTAGGTATACAGTTCAATAATGTTAAGTACATTCACATTGTAATGTAACCATCACCATCAGTCATCTCCAGACCAGTTTCATTTTCTCAAACTGAGACTCTGCACCCGTTAAACAGTAACTTTCCCTTCCCCCTCCCATCCTCTGACACCTGCCATTCTGCTTCCTGTCTCTATGAATTTGACTACTCTAGGTACCTCATGTAAGTGGAATCATACAGTATTTGTCCTTTGAGTCTGGCTTATTTCACTTAGCGTAATATCTTCAAAGTTGGTCCCTTCTTTTAAAAAAATTCTGTAATTTGAAATTATATCGTGTGGCCAAAATACAAGAAATTCAGGCTTGTTTTTAACAGCCTGATAGTCACATTGGAGGTCATATGATTTTCTTATTCTTTAAAGTTATATTTGGGAAGTTATAATCTACAGCCCAGTAGAGAGGTGCCTGAATTACATAGTGGGCCCTTTTATTGTGTAGGATGGAAAGATAAAGAGAATTAAATATATTGGGGTCTGTATGCAGGAAAGAAAGGATAAGCTGGTAGAACAGATCAGTTGTATGGGAGGCTTTCTTTCCTAAAGAGGGAGGTTTAAGAGTTAATGATTTAGGCAGGTGTGGTGGTGCATGCCTGTAGTTGCAGCTATAGGCTGAGGCAGGAGGATCACCTTAGCCTCTGAGTTCAAGACCAGCCTGGGCCACATAGTGAGACCCCGTCTCTTAAAAAAAAAAAAAAGAGTTAA
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Task1_train_21755
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Gene MTHFS, ST20-MTHFS (methenyltetrahydrofolate synthetase| ST20-MTHFS readthrough), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
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ACAGTCTCCCATTTGCCTCCTTTCCCCTCATCTTCACTGCCCATGCTCTGGTTTGCATATTTTTCATCTTTCACTTGAATTGGCACAACAGCCCCTTACTGGTCTCCATATTTTTTTTCTTTCTTCCTTCCTCAACCCATTATCCAAATGCTGCCATTATACTCTTCCTAAAGGACATAACAAACAATAGGTAAAGCTCTGAATACATCCCTTTACACACTTCTTTAACTCTCACAATCGACCTACAAGAGTGATATTATCCATTTTATAGACAAGGAACCAAAGGTTCTGAGAGATTATGAGACCTGTCCAAGGATATACAGTTAAAAAACAATGGCGCCAGATTCAGCCCAGATCTGTGCAGTTCCAAAGCCCATGCTAAACTGTATCCTGTCATCTCTTGCCTAAATATCCCTACTCACACTCCCCTATCCCATCTTTCCCTTCACCTGAAAGAATTCATCTTGTTCTCCGAAATTCATCTCAAACATTTTCCAATAGAAAGCTTTCCAATTTCCCCTCCCCAAGGCTATGTTTCCACAACATTGGTGTTTACCTTTATCATATATCTGGCTTCAATGCAATTCTTTATTCATGTCTGTTTCCTCTTCTAGGCTCTCTGCTCCTTTAGAGCAACAATCATATCTTTTTCATCTCCACAACCCAGTATATAGCCAAGTGTGCACTACATAGGTGTTCAACATATGTGAATGAATTAGCTAAATTTTAAACAACTAGATAGTAAGGACAAGAGTCTATATCCTTTACATCTACTAAAACACCCAGCAATGCTTCCTCATAATAGCTAAAATAATTCTGTTTGAACGAACGAATTAACATCTGTATAGATTCCCTCATACACACCTACATAGATGAAGAGAGGGGTGAAATGAGCATATATGCTTTACTGCTTTAACCCATAGGCACCTTGAATTTGAGTAAATAACGGATAATAGAATAGTGAAGGGTAATTAAGAAAGCCTGATGGTATAACTAATTCCAAGGAACATCAAGTTTCCAAATATCTGGTGTCTCTGAAGCATGATGCTGGGAAGACAGATCATCAGTTTGACTTACAACAGAATTACAAATACGTACTTATTCAGGGGACATTAAATTTTTCTTCCTCTGGTGTCTAACAAAAATGAGTCCCCAAAAACTCTTTAGAACATGCCTTCACAACAGGATATGACTGCCATTTTATTGATAAGAAAACTGACATTACATAGACTAAAAATACATAGCAGTGCAGTTGGTGAAAGTAATGAAACAGAGGTCTGCTAACCAACAAACACGGACCCTCACTTATTCCTCTCATTTCTCTCTTCTGTTTCCTACGTTCTTGGGAAGCCTGGATATGATAGCCAAGTCTTCCTTTCGTTCACTCAAGAAAAAGCATTTAATGTTGACCAACTCTGAGACAGGAAAAGCCTAGGCCCTGGAGCTACTGAGACACAGCCTTAGCCCTCCATATGCTTAGTGAAGTCCAGTCAACCTCTGAGTTCTGCCCTTTGGCATCTCCACACCTTTTTTGGTGTTCCCTCGTCTAAAGCACCTGCATCTTTCTCTGGCCATTTTACTAATATAACCGGAGTCTTACTCGTAGCTCATTAACTTTAGGCCTCACTGAGGGAACCTGGGCACTCAGGTGTTCACCCATCTCCTCTACCACAACTTTCTGTTCTCACCGTGCTCTCACCACAGCACCGTCATCCCCACGGAGGGTTTTCGAGCACCAAAAGAGCCACCCATGCAAACAAACTCCCCTCCCAGAGATAAATCTGTCAACCCCTGCCGTCCTCTCGCTCTTTAGCCCCACAACTTTCACTACCGGGCCCTCTCCCCGCCATAGTGCCAAGAGCGTCCAGACCACGACTAGGGGGCGTGCGCGCGCCGGGAGGGGAAACGTGCGCGCGCCGGGGGGTGGGGGGGCGCCTAGCCCAGCGCCAGCACGGACCATGCACAGATCAGCAATCGCTGGCCGCCAGGCCTTCGGAGGGTCTGTCCGCCGCGGCTTCCGCTACGGGCGGCCTCGCACCTTCTGGCTCAGTACGCGGGACTGGCGTAGCCGCTCCTCGGCACTCATCGCCCGCAGACGCTGCTTCAGCTCTCCCCGCAGGCTCCGCTTGGCGCTGCTCACCGCTGCCGCCGCCATCTCACGCCCAAGCCGAGTCCAGTCCCGCCCTCGGCGCCCTGGGCGCCCTCGGGTTCGGTCTCCGCCCCTGGCCGCTCCCAGGTGGATCCGCGGCCTAGGGGCGGGTCGGGGCTCGGGGAAGCGCCCCCACCCCGCTTCCGGGACGCGGGCCCGCGGCGCGCCGCGCGCTTACCTCGCCTCTGGCCCTTGGGACCCAGCCCTCGTGCGGTCCCCGTGGTCCGGCTCGCCCTCCCCGGTTAGGGGAGCGGTGGCGAGGCGCCGTCGCTGCCCTGCCGCCTGACCTCCCTGAGCCTGGGCCCTCACCGGGACCGCGGAGGCGGCAGCGCCACTGGCGGGGATGGTAAAGATGGCCGGCAGTACCCACGGTGCCTGGCATCTCTTGTACTGTTCAGTAGTGGGACTTCAGGGGCCAGAAAAGAAGGGCAAGGCAGGACATGTAGCGAAATCGTCACGAGTCGCTTAACTACAGGGATAGGTCTGACAGATGCCCCGATTTCCTTCTTGTGCAAACATCAGAGTGTAGTTACACAAAGTTACTACACACCTATGCTACACACCTGTACAGCGTATTTTGTACCGAATACTGTAGGCAATTGTAAGCACCGTGATACTTGTGTATCTAAACACAGAAAAGGTAATGTGTTGGTTGGCTACCACATCAGTAGGTATTAGGAATTTTTCAGCTCCATTATAATCTTAAGGGACCACAGTGGTTGATGGAAATGTCCTTATGTGATGAATGTATAGATGATACATAATCGGGAACACTGCTAAAGCAATAACTGTAGTGTAAAAGCCAAATTTTGCGGGTTTCTAGTGTGAATGTATTCCAGGTAATAGTGCCCACATAGGTACTTCCTGTTATAACCATCAGTGACTGTTCATTCCCACCACTCAGCTCTGATTAAAACACAAAAATGAATTAAAACTAAAAGCAGTTGGGGGGTGGGTGAGGCACTTGCAGGAAGAGGTAAAAGAAACTGTTAAGTCTTAAACTGCTCCCAGTAGACAGGCGCCTCAGATGGCATAGACGGTTGCCTCTCAGATGTGACTTCCTAAGAAAACCAGAGCTGTCTCTGCCAAAAATACGTCCCTACTGACCGCCCCAGTGTCTTAATCCCCACCGTTAAGAATCACACCTCCTAGGTAAAGCATTAATTAAGTGCCCGGTGAGAATGCACATGGCTTGAGAGGGGAGTTCTGGCTTCTTTATGGAATCTATCAACAGCTTCCAGGGAAAGCTAATGCAAGTCCCAGGGGGACTGTGTTGTAAGAAAAAGGGAAGGCCAGGCAGGTACAGCGTATACATAGTGCAATTAGATTTGCTGACCTAAAAGTTAGAACACGAGGTCTAACAAACTACGTACTTTTCTAATCTGTTCATTTTTACCAAAAAATAAAAATTAAAATTAACACTAGCTCCACGTTGAATCATTTACCAATTTTCTTTGTTCAGAATATCCCAGAGTATCCTGCATATCAGGTTGCCATATCCATCAACCCCAAATGGCAAGCCAGAGAGAGAAGGCTGGGGAGGAGGCATCAATGGAAACTCTTAAGCAGCCAGGGGCACTGGAAACTGCAGAAAGCATGGGAAGGAAGGAGGGAAGAGGGAAGCCGACCTGAGTCTGCTTCTAGCCTGAGTCCGCTTCTCAGTCTAGTCTGCAGTCTAGCCTAGTGACACAGAAAAGGACTTTTGGGGTAATGGCACACCTTAAAAGTCTGCCTGGGGCAGAAAAGACACCGCCTTCCTGGTCATCATCCCATAATTAATTGCCTGGATCCTGTGTTGAGCTTTTACCCTTTGGCTGAATTTCCAGCCAGACTCCAAAACTGAAGACAAAAATGGCATATAGAGAAAAATACATACAATTTATTCATTAAATAGGGACAAAATTTCTGTAACTCTGGAAGGTCAAGTTACATCATCAAAGTTGTTTA
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ACAGTCTCCCATTTGCCTCCTTTCCCCTCATCTTCACTGCCCATGCTCTGGTTTGCATATTTTTCATCTTTCACTTGAATTGGCACAACAGCCCCTTACTGGTCTCCATATTTTTTTTCTTTCTTCCTTCCTCAACCCATTATCCAAATGCTGCCATTATACTCTTCCTAAAGGACATAACAAACAATAGGTAAAGCTCTGAATACATCCCTTTACACACTTCTTTAACTCTCACAATCGACCTACAAGAGTGATATTATCCATTTTATAGACAAGGAACCAAAGGTTCTGAGAGATTATGAGACCTGTCCAAGGATATACAGTTAAAAAACAATGGCGCCAGATTCAGCCCAGATCTGTGCAGTTCCAAAGCCCATGCTAAACTGTATCCTGTCATCTCTTGCCTAAATATCCCTACTCACACTCCCCTATCCCATCTTTCCCTTCACCTGAAAGAATTCATCTTGTTCTCCGAAATTCATCTCAAACATTTTCCAATAGAAAGCTTTCCAATTTCCCCTCCCCAAGGCTATGTTTCCACAACATTGGTGTTTACCTTTATCATATATCTGGCTTCAATGCAATTCTTTATTCATGTCTGTTTCCTCTTCTAGGCTCTCTGCTCCTTTAGAGCAACAATCATATCTTTTTCATCTCCACAACCCAGTATATAGCCAAGTGTGCACTACATAGGTGTTCAACATATGTGAATGAATTAGCTAAATTTTAAACAACTAGATAGTAAGGACAAGAGTCTATATCCTTTACATCTACTAAAACACCCAGCAATGCTTCCTCATAATAGCTAAAATAATTCTGTTTGAACGAACGAATTAACATCTGTATAGATTCCCTCATACACACCTACATAGATGAAGAGAGGGGTGAAATGAGCATATATGCTTTACTGCTTTAACCCATAGGCACCTTGAATTTGAGTAAATAACGGATAATAGAATAGTGAAGGGTAATTAAGAAAGCCTGATGGTATAACTAATTCCAAGGAACATCAAGTTTCCAAATATCTGGTGTCTCTGAAGCATGATGCTGGGAAGACAGATCATCAGTTTGACTTACAACAGAATTACAAATACGTACTTATTCAGGGGACATTAAATTTTTCTTCCTCTGGTGTCTAACAAAAATGAGTCCCCAAAAACTCTTTAGAACATGCCTTCACAACAGGATATGACTGCCATTTTATTGATAAGAAAACTGACATTACATAGACTAAAAATACATAGCAGTGCAGTTGGTGAAAGTAATGAAACAGAGGTCTGCTAACCAACAAACACGGACCCTCACTTATTCCTCTCATTTCTCTCTTCTGTTTCCTACGTTCTTGGGAAGCCTGGATATGATAGCCAAGTCTTCCTTTCGTTCACTCAAGAAAAAGCATTTAATGTTGACCAACTCTGAGACAGGAAAAGCCTAGGCCCTGGAGCTACTGAGACACAGCCTTAGCCCTCCATATGCTTAGTGAAGTCCAGTCAACCTCTGAGTTCTGCCCTTTGGCATCTCCACACCTTTTTTGGTGTTCCCTCGTCTAAAGCACCTGCATCTTTCTCTGGCCATTTTACTAATATAACCGGAGTCTTACTCGTAGCTCATTAACTTTAGGCCTCACTGAGGGAACCTGGGCACTCAGGTGTTCACCCATCTCCTCTACCACAACTTTCTGTTCTCACCGTGCTCTCACCACAGCACCGTCATCCCCACGGAGGGTTTTCGAGCACCAAAAGAGCCACCCATGCAAACAAACTCCCCTCCCAGAGATAAATCTGTCAACCCCTGCCGTCCTCTCGCTCTTTAGCCCCACAACTTTCACTACCGGGCCCTCTCCCCGCCATAGTGCCAAGAGCGTCCAGACCACGACTAGGGGGCGTGCGCGCGCCGGGAGGGGAAACGTGCGCGCGCCGGGGGGTGGGGGGGCGCCTAGCCCAGCGCCAGCACGGACCATGCACAGATCAGCAATCGCTGGCCGCCAGGCCTTCGGAGGGTCTGTCCGCCGCGGCTTCCGCTACGGGCGGCCTCGCACCTTCTGGCTCGGTACGCGGGACTGGCGTAGCCGCTCCTCGGCACTCATCGCCCGCAGACGCTGCTTCAGCTCTCCCCGCAGGCTCCGCTTGGCGCTGCTCACCGCTGCCGCCGCCATCTCACGCCCAAGCCGAGTCCAGTCCCGCCCTCGGCGCCCTGGGCGCCCTCGGGTTCGGTCTCCGCCCCTGGCCGCTCCCAGGTGGATCCGCGGCCTAGGGGCGGGTCGGGGCTCGGGGAAGCGCCCCCACCCCGCTTCCGGGACGCGGGCCCGCGGCGCGCCGCGCGCTTACCTCGCCTCTGGCCCTTGGGACCCAGCCCTCGTGCGGTCCCCGTGGTCCGGCTCGCCCTCCCCGGTTAGGGGAGCGGTGGCGAGGCGCCGTCGCTGCCCTGCCGCCTGACCTCCCTGAGCCTGGGCCCTCACCGGGACCGCGGAGGCGGCAGCGCCACTGGCGGGGATGGTAAAGATGGCCGGCAGTACCCACGGTGCCTGGCATCTCTTGTACTGTTCAGTAGTGGGACTTCAGGGGCCAGAAAAGAAGGGCAAGGCAGGACATGTAGCGAAATCGTCACGAGTCGCTTAACTACAGGGATAGGTCTGACAGATGCCCCGATTTCCTTCTTGTGCAAACATCAGAGTGTAGTTACACAAAGTTACTACACACCTATGCTACACACCTGTACAGCGTATTTTGTACCGAATACTGTAGGCAATTGTAAGCACCGTGATACTTGTGTATCTAAACACAGAAAAGGTAATGTGTTGGTTGGCTACCACATCAGTAGGTATTAGGAATTTTTCAGCTCCATTATAATCTTAAGGGACCACAGTGGTTGATGGAAATGTCCTTATGTGATGAATGTATAGATGATACATAATCGGGAACACTGCTAAAGCAATAACTGTAGTGTAAAAGCCAAATTTTGCGGGTTTCTAGTGTGAATGTATTCCAGGTAATAGTGCCCACATAGGTACTTCCTGTTATAACCATCAGTGACTGTTCATTCCCACCACTCAGCTCTGATTAAAACACAAAAATGAATTAAAACTAAAAGCAGTTGGGGGGTGGGTGAGGCACTTGCAGGAAGAGGTAAAAGAAACTGTTAAGTCTTAAACTGCTCCCAGTAGACAGGCGCCTCAGATGGCATAGACGGTTGCCTCTCAGATGTGACTTCCTAAGAAAACCAGAGCTGTCTCTGCCAAAAATACGTCCCTACTGACCGCCCCAGTGTCTTAATCCCCACCGTTAAGAATCACACCTCCTAGGTAAAGCATTAATTAAGTGCCCGGTGAGAATGCACATGGCTTGAGAGGGGAGTTCTGGCTTCTTTATGGAATCTATCAACAGCTTCCAGGGAAAGCTAATGCAAGTCCCAGGGGGACTGTGTTGTAAGAAAAAGGGAAGGCCAGGCAGGTACAGCGTATACATAGTGCAATTAGATTTGCTGACCTAAAAGTTAGAACACGAGGTCTAACAAACTACGTACTTTTCTAATCTGTTCATTTTTACCAAAAAATAAAAATTAAAATTAACACTAGCTCCACGTTGAATCATTTACCAATTTTCTTTGTTCAGAATATCCCAGAGTATCCTGCATATCAGGTTGCCATATCCATCAACCCCAAATGGCAAGCCAGAGAGAGAAGGCTGGGGAGGAGGCATCAATGGAAACTCTTAAGCAGCCAGGGGCACTGGAAACTGCAGAAAGCATGGGAAGGAAGGAGGGAAGAGGGAAGCCGACCTGAGTCTGCTTCTAGCCTGAGTCCGCTTCTCAGTCTAGTCTGCAGTCTAGCCTAGTGACACAGAAAAGGACTTTTGGGGTAATGGCACACCTTAAAAGTCTGCCTGGGGCAGAAAAGACACCGCCTTCCTGGTCATCATCCCATAATTAATTGCCTGGATCCTGTGTTGAGCTTTTACCCTTTGGCTGAATTTCCAGCCAGACTCCAAAACTGAAGACAAAAATGGCATATAGAGAAAAATACATACAATTTATTCATTAAATAGGGACAAAATTTCTGTAACTCTGGAAGGTCAAGTTACATCATCAAAGTTGTTTA
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Task1_train_21756
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A mutation in FAH (fumarylacetoacetate hydrolase), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Tyrosinemia type I
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CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCC
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CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCGTGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCC
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Task1_train_21757
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The following genetic variant occurs in FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Tyrosinemia
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CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCC
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CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCGTGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCC
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Task1_train_21758
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The gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; See cases
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CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCC
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CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCGTGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCC
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Task1_train_21759
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This variant impacts the gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Tyrosinemia type I
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CGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCC
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CGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATATCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCC
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Task1_train_21760
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Consider this mutation in FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is this a benign change or a disease-causing variant?
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Pathogenic; Tyrosinemia type I
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AACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCCTTCTCACTCTTTGGGACTCAGCTTAAATGTCACCT
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AACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCTCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCCTTCTCACTCTTTGGGACTCAGCTTAAATGTCACCT
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Task1_train_21761
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The variant affects gene FAH (fumarylacetoacetate hydrolase), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Tyrosinemia type I
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ATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCCTTCTCACTCTTTGGGACTCAGCTTAAATGTCACCTCCTAAGCAC
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ATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACATCCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCCTTCTCACTCTTTGGGACTCAGCTTAAATGTCACCTCCTAAGCAC
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Task1_train_21762
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A variant found in Chromosome 15 affects FAH (fumarylacetoacetate hydrolase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Tyrosinemia type I
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TGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCGTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCCTTCTCACTCTTTGGGACTCAGCTTAAATGTCACCTCCTAAGCACCCTCTCTGAATGAG
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TGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAGCTCACATTATCCTGCCATCTTCCAGCCTCTTCTCCCTAAGCTGAAATGCGGAGCAGCCTCCCTAACTCAGCAGTCACTGTGTCACATTCCTCAAGGATCTTCAGGGAACCCTTGCCCAGACTATCGTCTACTTTTCTAGATTTCAGCCGGCATCCTGGCTGTTTAAAAGTGTACCTGAATCATTCACACCAACAATAACACAACGACACACTCTCCGGTGTGTTCCAAGTGTCCTGGCTGTGGCATGGTCTCAAAAAACTGCAGCTGACTGCACATGAGTGATTAGATAACACCTTGAACCCACCCTAAGATAGTCTGCCTTTCCCTTCTTTCCTGTCTTCCTTCTTTTCTTTCTCCCTCTCTCTCTTCTCCTATTTCTCTTTTATCTTTCCTTTCCTTTATCCCCCTCCCCTCCTTTCCTCTTTTTCCCTCCCTTCTCTCTCTTTCCACACACACATAACCTGTATATGCCAGGCACTATTCTAGGTGCTTCACAAATATTAATTCATTCCATTCTTATATCAACTTTGTGAAGTAGGAACTATTATCATCAACATTATACAGAGAAGGAAGCTGAGGTAGAGAAAGTTTAAGTAACTTGTCCAAGGTTGAGCATCTTGTCAACGTCATTTTACTACTGGCATGTGAAACAGGTGAGTTATATTTTTTAGAATATTAATTCTCATTAATTGAAGCCTTCCAAACAGGCCTAACTGTCCCCTTCTCTGACATACAAGTGGAAGTGTCATAGCTGGACGGAGCATCATGGTATGAAGGCAGAAAGGACGCGACTGGGTGTTCTTCTGAAGCTCAGGGAGCAGCTCTTGGGGAGAAAGTGTTTCCAGGAAGCGGACAAGAGTTCTGTTGAGCTGAAGAGCAGGGCAGCAGCCGGGGCGAGCGAGGCTGGAGTCATGCAGGGCAGAGCCTTAAATGCTAAGCTGGGGTTTGCTCTCGGTAGGACCAGCTAGCTGCCCCGAGCGGGGGCTGGAACCAGATCTCCCCCACGTGGACTCGCGGACAGGGCGGGGATCAGGACGGGGGCGGGGCCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGCCTGACCACAGCGGCCGAGTTCAGTCCTGCTCTCCGCACGCCACCTTAGGCCCGCAGCCGTGCCGGGTGCTCTTCAGCATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGCTTCTTCTCGACCAGAGGCGACGTGAGCAGTGGGGCTTTGGCGTCCGGGCGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGGGCGGGATGGAGGCTTGTGCCATTTTTCTCTTAAGATTCGTTCCGTGAGAGTGCCTATGGGCTCGAGTCCCGCCTCGTAACTTTCTAGCTGTGCACGTTGTTTAACTTTTCAGCCTCATTGTCCGCAGGTTTGCTGAGAATTAAATGCAAAATGAAATGAATCGTGTCACTCTCCCAGACAAGCAGAGCAAGCAGGATTCTGTTACCGGAAGCTGCAGCACACAGGCATGCTGCCTACTCCGAGGTGGTTGCGGTGTGTTTCTCTCGCCCAAGAGGCCAGGTCAGGGCTGGTGGTTCATCTCGCTGGATAGCCCCTAACCCTAGAACCCGGGAAATGATAACCCGGTATGCGTAGCAGGTCAGAGGGGCACGCGCGTTTCTTGGCTTAGAGTTGTGAGATCTAAGATGGCAAGTGTCTCTGCCTATAGCTGAAATTCTTTCAGCTCCTGGTGTGGGCTCCCTGGCATTCCCCTACTGATCAGAAGAAAGAGGGCAGGGAAACAAACTTTGACTAAGTCAGTGTAGTCTGATTGGTAGAAAGAAGTATTTGAAAACTGGGGGTTTATCAGCAAATAGATAATAAGAGGTTCCCTAGGTTGGAAAAGCAGATTCCCTTGGATTTGTTGATGATATTTTTGGCTTAGATTTCTGCTCCCAACTTTAAAGGTAAACTCCTGATTCATCTCTGTAAGCCATAGAACCCCAGAATCAGGAAATGTTTGCTAAACGAGGGGCCTGGCAGTTGGCTTCTTCTTGGAAAGTGGGGTTCCCTCCTTCCCCCATGGCTTGTCATTGGATGCAAGTGGCTGGCCTTTTGTGGGCCTGTCTGCGGTAAGTGCTTTGGTCTAGAAGAGTCAACTTGTGGTTTCACATCTGGCCGGGCTGACCAGATGTTGCAAGGATACAGAAAGTGGACACTCAATCCCCTGGAGGACACAATCTGAGGCACATTAAATCTTAACTTGTGATGGCCAACAACCTTTCTGCAGACAGAGCCCTCCCTCTGCCCTCCTCAAACACTTTGCCCTCGGCAGATGTGTCCTCCCTCACCTTTCCTGGGAGCACAAATCCATTAGACAGAAACATTTGTGAGAGGCAGGCACACCCCAGTAGGGAGCTCTGACTTGCTTTCTCAGGGGAATCGAATTAATATCCGTTAGAGTGTGGCTAGGTGTTTTCAGACACCATGTCCCGCTGTTTCAACATCAGAATGTGCAGGGCAGCCACTACAGATGTCTGGAAGAGAGAGCCCCATTCCGCTGTCCTCTGATACAGTGCTGGGGGTGGAGAGTTGGCCCTTTGGCCTTCCAGCTGAACAAGCCTCTTCTGAAGCTTTCTCTGCAGGCATTGGACATTCCAACCGTGATGGCTGCCTTGCCAGGCAAGACTAGTTGCCAAGGCAAAACCTCCCTTCCCCCATGTCAGCAGTCAGCCTTTCCTAATTTGAGTGGAATAACAATGAATCCTGCCATCACTTTATTCATTTTTTTTTATTCAGCGAATGCTTATGAACCCCAACTCTGGTCCAGATTTTGCCTGGGCTCCGAGTTGGCATCAAAGACACAGGAGACGCCTTCCTTCCATTTCTGGTTGATGGACTAGTAAGGTGTACAGGGGTGCTCTCTGTGAAGGTAGGGGTGGTGGCCTCTGAGAACGGGGTTGTAGTAGTGTGGAGCTGGTTTTGCCGGGTGCCTTGTTAAAGTCCCCGTGGTCTGGCTGTGCTGCTGCCTCCTGGCCTCTGCTTTCTCCAGCCACATTGGCTGCCTTTGAGTCTCTGAGATGTGCTAAGAGCAGCTTCCTGCCTTCAGGCCTTAGCACATGTTGTTCCTTCTGCCTGGAATACTCGTCCTTCTGCTCTCTATATGCTTGGCCCCTTCTCACTCTTTGGGACTCAGCTTAAATGTCACCTCCTAAGCACCCTCTCTGAATGAG
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Task1_train_21763
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This variant affects the gene FAH (fumarylacetoacetate hydrolase) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Tyrosinemia type I
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CTCCTACAGGAAGCTGGTGGAGCAGAGTGTTCCCTGACTCCTCCAAGGAAAGGGAGACTCCCTTTTGCGGTCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCAGGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATC
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CTCCTACAGGAAGCTGGTGGAGCAGAGTGTTCCCTGACTCCTCCAAGGAAAGGGAGACTCCCTTTTGCGGTCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCCGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCAGGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATC
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Task1_train_21764
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Consider a variant on Chromosome 15 in gene FAH (fumarylacetoacetate hydrolase). Determine its clinical classification and disease relevance.
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Pathogenic; Tyrosinemia type II
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TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCAGGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATCATCTGTGACCTCATCTGGTTTCTAGAGTAGGAAAGAGTTTCCACTTGTCTAGTCCCATTTCCTAGGGTAG
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TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCATGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATCATCTGTGACCTCATCTGGTTTCTAGAGTAGGAAAGAGTTTCCACTTGTCTAGTCCCATTTCCTAGGGTAG
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Task1_train_21765
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The variant affects gene FAH (fumarylacetoacetate hydrolase), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Tyrosinemia type I
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TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCAGGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATCATCTGTGACCTCATCTGGTTTCTAGAGTAGGAAAGAGTTTCCACTTGTCTAGTCCCATTTCCTAGGGTAG
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TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCATGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATCATCTGTGACCTCATCTGGTTTCTAGAGTAGGAAAGAGTTTCCACTTGTCTAGTCCCATTTCCTAGGGTAG
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Task1_train_21766
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This variant impacts the gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
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Pathogenic; T-substance anomaly
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TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCAGGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATCATCTGTGACCTCATCTGGTTTCTAGAGTAGGAAAGAGTTTCCACTTGTCTAGTCCCATTTCCTAGGGTAG
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TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTCGGCACCTGGGTAATCCTTCGCCCACACCAATCCCATGCTTCCCCCTCTATGTCAGGCTGGGAGTTGGGTAATGCTTTCCTTTGGACAACTTTATATCAGATATGACCAACTATTTTAAAACAAAGGCAATGCACATTCATTCTCTTGAAGTTAGACAAATGCGGTCTCCCTCCTTAGTTTGTTTCCCTCAAGTTGCAGATGGGAAACTGAGGCCCAGAGACTTGTCCAAGGTGATAAGATGGTGAATGAGGGAGCAGACTTGGAGCCCAGGAATCCTGGATCTGACCTGTGAGCCCCCTCTAGTTTTGTGCTGAAGAAAATAACTCCCAAGGTTGAAAGTAGAGGGACTCACTCTCTCAGACTTTTTCTGGGTCCTCAGGTCATAGTTTGAAGCACAAGTTTGAAGCTTCTAGGCTTTGTTTGCATTTGAGGCAGCAGGCAGCTGCACTTGTGACCCCATTTTGGAAGTTGCTTACTGGTGGTGACTCCTTCTTGCCTTCAGCTGGGGTGTGGGGACCAGGGTCAGAGATGTGGTCCAAGGGTCTGCCCTGCACATTCCCTGAATGGAAAGCCACTTGGATTCAGGTGGTTCAGCTCTTTGCCTAAAGCAGATTTGCCATTTTCAGGAGGGGAAGACTGAGGCCCAGGGAGTTGGCAGTGGGGCTGAGAATGAGTAACTAAGCTCTCCAGGCAGCCTCTTCTAGGGTAGGCTCTGCTGGGACCTCAGATGAGGAGTATGGCTCTGGTCTACCCCGATTCCAAGAGCTGACATGCGTGGAGAAATGGTCATCTTTTCTCAGCCCACCCCAGTGAGCAGCCAATGGAGATAAGGCCAGCCAATAATCCCACCACTAAGCTCGCTGGCACTGAAATGGCCAAGCTGGTGGTTCAGGAGAGCTGGAAGCCTGGCTCAGGACAGAGCCCTGGGAAGTTGAGTCTGCAAACATGCCCTCGGGTTCTTGTTGACGAGCAAAGCTCAGGGTTGTGGGGACAAAGACCAGGACTTAACAAATATTTAAGACATCTTTGTTGATGCTGGGATTTTGTGGTACAGAAAGGAACTTGCCTTGCATGTTCTGAGCAGTCTGGCTTCCTGCAGCTCCCTTACAACCCGAGCTCTCCTCCATTTGAGCTACAACAGAGCTCATTAATCCAAGCCACCTGGCCCTCAGCACTGTGTGTTGGGCACTCATGCTCCACCGCACAACTGAACTACCCTAGTCAAGGCCTAGAAACCTGGAAAATAATCCAACATCCTGGTAAGGTGGTAAGCTCCTCATCACTGGAGGCATTTATGTAATGCCTAGGGAACTTTGCAGGGGTCTTTGCCCAGGTTAAGTGGCTAGGACCAGGCTGACTGCTCTTCCCCCAGTCCAAGGGATATTTGATTTCTTTCCCATTCAGGGAACACAGATTATTTTTCCTTTTAGTTCTGGAAGCAGAGATGGCACAAGGGAGCTGGGGCAGGATGCTGAGAACATGGTTCTTCAGTCCGCTCTGCATACAGGGCCACCTAAAGGGGGACCTGTGGACTCTTCAATAGATAGGCTTTCTGAGTAAATGAGCCAAGCCCAGCCAGGGGCTTTTTCTGGTGCTGACGGTGTCGTCTTCCTCCTAGCCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATCCTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGATGTCTTCAATCATGTAGGACATTGTGAAACGACTTGTCCCTGACCTCAGTGGCACTTACTGTGGATGCCAACAAGAGAATGCTCCTTGCGTTCCATTTCCGATAGAGGTAATGCCATCGAAGGTCTCAGAGGTTATACTTGGATAAGGCTGGGGTTGTTTTGAGACAGACAAACTGGTAGGAGGTGGCCTTGGGACAATTCAGGGTGGCTTCTCACCTCAGGGCGAGTTCCTAGGTGAAAAAAGTGTCAGTGTCTGCAGTCCTGGGTCGTTCCTAGTTGTCTATGAGATGAAGCTCTTCAGGAACTCTGGTTACTTTTCTTGTCAAGCTGTTTGAGCCTCTGCCTGTCCAAGGGCTGTGTGGGCCCCCAAGGGAGGGAGCTACGAGCCCAGCCCTCCAGTTCTGTGGAAGCAGCTACGGAGGAGTCAGCCTGAAGTACATGTTCACATGGGATGGACATGAATTTGCTTCCCTGTAAATGGTCATCTACTTTGATATAGCATCTTCTCATTGCATGGGTCAGGAAGGAGGGTGGGATTTATGGGTACCTCTTGTGTGCCAGGAGCTTCGCACACATCCTCTCCTTCAATCCTCCTGACCACCCTCTGGCATAGGAATTGGAATTCCTATGGGGGCCTGAGCATCTAGATGGGGACCTGAACTTCTGGAATGAGACATGGTTTTCCCAAGCTGCACAGCTAGAAGTATCAGAGCTGGGACTGGAACTCTGACTCTTAGAACCTACAAGGGCTTTTTCTGCTATGCTTCACTGGCTATAAAACCTCTTCCTTTTTTAAATTAAAAAACCTCTCGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCAGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACATCAGTGCACTCCAGCCTGGGTGACAGAATGGGAAAAAAAAAAACAACTTTTTTTTTTTAATAGAGATGAAGTCTCACTATATTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGTGATCCTCCACCTCGGCCTCCCAATGTGCTGGGATTACAGGCATGAGCCATCACACCTGGCCCAAAACCTCTTCTTAACTGATGTGAAAGGAATTAGTTTAGGCTGTGATCACTCTGCAGACTGGAGTGTGCCTCTACTGGAAGAACATGGCCACCTTCAACTGTGGGCCGGGCCAAGCTTAGCACAGTTGCTGTGCCAGGTAGCAACTCCTGGGCTTGGACAATTGTGTGCAGGTGCACGAGGGCCTGAGGCAACGTCAAGAGAGGATATGCTTTTCTCCAGGTTGATGAATAAATGACAAAACTAAGAGCAGAGGTCCTGAGAGTTTGAGTTAGCGGGAGAGAAGTGGCAAGGGCTGGCAGGCTGGCTGGCCTTCCATTGGAAGGAGGGATACTCCCTGGGTTTTCCTGTACGTGATCTTTTTTCTCCCTGTTTTGGTCTTAGCCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAGGCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGTGAGAAGCACGTGGTCATAGGGGGGATGAGGGGATGCAGCAGGGGAGGTGAAGGCTGTGTGGTTATCAGTGCCATTCTGAGTCACGGCTTGGCAGCCTTAGTGTGGCCAAGTCAGACCTGCCCTCATCCAGCCCCTGCCTGAGCTGCCTATTGATGGGAGGGCTTTGGGAGGACTGGGATTGCCTTGGCGCCTGGAATGGAGCTGCCCAAGCTAGGCCAGGCCAGGCCCATTGGCCCTCTCTCTTACTCAGGCTGTCCTCATTAGCATCATCTGTGACCTCATCTGGTTTCTAGAGTAGGAAAGAGTTTCCACTTGTCTAGTCCCATTTCCTAGGGTAG
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Task1_train_21767
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Consider this mutation in FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is this a benign change or a disease-causing variant?
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Pathogenic; Tyrosinemia type I
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TGTGAAAGGTTCAGCATAGCTCTGGCCCCAGGCCAGCCAGAAGGTGCCCACTGGAGATTGTGGATAATCTTGGGGATGGTCTGGGCTGAGCCCGTGGGTGGGACCGCGCTTTGCTGCCTACTTGACTTTGAAGCCCCTGGTTCTGTGTTTCAGTGCATTCATCTCCCAGGCTTCTGCCACGATGCACCTTCCAGCCACCATAGGTGAGTGCAGTCTCTTCACCAAGATAAGAACGGAGCAGCTTCGTGGGCCAAGAGGGCTGGCCAGGTGCTTTGGTTCTGCATCTGTGTGGAGGGTCCCTGCTGGTGGGGGGAGATGGAGGAGGGGCTCTGGGGCTGTTACCCGCTCCTCATCACTGACCTTTCCCAGCATCCAGGCCCGGCATTCACTCAGGCTATTATCTTGCCTCAGGTAGTGAGTTGCAGACTGCTCAAGTTCATGACTAGCCGCATGGCTCCCTGCACAGCAAATTGCTTTCCTTCCCCCAAAGGCTATGGGACAAATTCTCTGAGCTCAGTCTGTGAGTCAGCAGTTTTGAGGATAGAGGCCAGAGGGCTATGAAGGGCCCCAGTTTGAGCACGTGGCAGGATGTCTGGTTGGAGTGTCATTCAGGAAGTTGGAGCTGTTGAAACTCTCAACCTGAAGCAGAGAGAGAGGCTGGCTCAGCCTGCGGCCCAAAGCACAGCCCTCTTCCTTGTGCACAGGTCTCCTCTGCTGGGCTACCTGGGCACCTGTGAGCTGAGGGGCCAGTTGACCCTGCCCCTGGGGTACACTGCCTCTCTGGAACAGCTCCTGCTGTCCGGGGAGAGTCCTTTGCTGCTGGGCTGCTTGGGCTAAGCTGACTGGAGGATGGGGTTGGGGACAGGGGCCGAGTCACCTGCCTCCTCCCAGCCCCTCTCACTCCCCACTCTCATACACTCATGGGACTGTGCTATGTTTTGGCAAACCAGCTGTTGTGCAAACCATATGTCTTTCAGGGATATCATGTCTGGTTGACTGATGGTGCCCTTTCTTGTTTTTTTTTTTTTTTGTTATGGATTTATTCTTTTGAAAAATCTCTCAGCTATTACTTCTGTGCAATGGGACTGAAGATGGGAAGCAGCAGCTAAGGCTCCACCTGCCCTGTGGACTGTTCTTCCTCTCCTCACCCTTCACCATGACTGTTGCTAGTCTAGGCTGTTGGTATTGATGAATATCCAGCATTTTTTTTTTTTGAGGAGACATTTAGGAAGATAAAACAGGCAGACTGTCCCAACTGGTTTTTCTTTCAGATTTTTAATTCTCCGAATGGTAGATATGCCTACAGCTTGCTGGCTAGCCCATTCAGTTCATCATAATCAACAAGCACTGATATGCATCTGCAGTGTGCAAGCCCTTGTCCTTGGCACTCGGGCAGAGTCCAAGAAAATGAGGACTGGGCTGGGGCTGTCCTGGAATGTCCACAGTCTAGCAAAGATGTGCACACACATAACTGGAGCACCAGTGGGAAGCGAAGCCTGCCCCAGAAGGATTCAGGGGAGGGGATTTGGAGGGGGAAGAGATCCTGCTAGAGAGAGCAGGGAGGGCTTCAGGGAGGAGCGGGCCTCAAAGAGTTGCCAGGATTTGAATACACAGGGACAAGGGAGAAGTCAATCAGTATAGGCGTGGTGAGGGAGCCTGTGGGAACTCGGGAATGGCAGTTGTGTGTGGGAAAAGTGGGGAGCCTGAGAAGGGAGGTGGTATCAGCCACTTGGTGTTCACATTCCACTGTCAGTTTCAGAAAGTCTGGACTCCTGATTTCTTATTTGTTTCTCAGCTGAGGGCTCTAAAAACAAATCTTCAGTGAGGATATTTTATATTGCATTTGGTGCTGCCATTGCTGGCTGCAGGCTGAGCTCTGGATGTGTAAACAGTATTGTGTGCACACTCGTGGCTCCAGTGCTTGGAACAGTCCATTCTTCCTGAGGCATGTGGGTTGCTGATGGGATCTGTTGGGTCTTTCCTCTGCAGGAGACTACACAGACTTCTATTCCTCTCGGCAGCATGCTACCAACGTCGGAATCATGTTCAGGGACAAGGAGAATGCGTTGATGCCAAATTGGTATGAACTGGGCCAAATGTCTGCATAAGTTCAAAGTCTTTCTTTTCATTTCCAGCAGCATATTTGTCTCAGGAGCTGCCAAGTTCTTCTTAAAGTAAACTGGGGAGGAAAAGCAGTTATGATGTTGCAACCTCTGGAAGCAGTGGTCTCAGCTTCTGGTCTCCTGCTCAGCTTGGCTTAGGACTTGCTGTGGGATCGAAGGGCAAGTCCCTTAAACTTCCTTGGACAGCAGGGGTTGGAATTAGATTCCCTTAATCCCTATGCTCCTTCTGGAGTCTTTCATTTATAAGCTGTGTATTATTGTACTATGGGCAAGTCTTAGACTCTAGCATGCTCCATACTTACATTTTCTGATGAATGAGAATCCTCAAATGTGCCCAGTGCTGTATATTCCTCAACATGTGATCGGTTTCATTCATTTGTTTGATCCTCGTAGTAGTTCTCTGATGTCACAAGGCCATGATTGTAAGCCCCATTTTACAGACAGGAAAATGGGCTCAGAGAAGGATCAACTTGCCTGAGCACAACAGGGCCACAGCCTGTCTCCCAGCCCCCAGATCAGGCCATTGACCAAGCTGAGGATGCAGAGCTGGGATCCTTGCCCTTTGTTCTGTGTTGTCCCCTGGATGTGATGGTTCCTTGGAACTGAAGAGGGCCTGGACTCAGTGGCAGGCATACACTCCAGGCCCCAGTGCCATCAGTCACACACAGGAGCTGGGTTAGGGACGGGGCTTTACTCTCTCTCGAGTGAGTGTCTCCAGTAGGCTATGCCATGAGGGGAGGGTCTGTTAGAACCAAGATGAGGAAGAAAGAAAGGGAGAGAGAGCAGTTCCAAGCCAGAGATGTTGAACAACAAGGCCAAGGTTGCAGAATGAGGCAGGGGTGAATCTGAGACCAGAACCCAGGCTCCAGGTTCCAGGCTTCCACGTGAGATGCGCAAATATTTGAGAATCTTGCACTGTACAGGCTCCAGGCTGTATTTGTCCCCAGCCAGCTTCAACTTGTCTATCTGATGGGCTGAGTGTCTATATGAGTGTCCTTGGCAGTGATGACCCAGTGGACTGCCCAGCCCCAGAAGAGCTGGCTGTCACCTGTGTGCCAGGATCCCAGTGGCCAAAGGGCAGGGGCACCAGGAAGTGAGAGGAGAGCCGGGACCTGGGAAATGAGTGTTGACTGTGTCTGAAACCGAGTGTGGGGGCCGCAGCCATCCTTGCCCCATGTCCTTCTGCAGAATAAGAGTAAACAGGCCTTCTCTAGCCATGTTTGATGCAAGATGGCCCACAGCTGTGACTTTTTAGCTTTATGTACATAGTCTTTATTATAAAGGTAACATATATTTACTGGAATTAACCCAAACACTACAGAAAATATGTAAACATTTACAATTAAAAATGTGTCTACTCTTTGACCTGCAATGCTCACTTTCATGCATCTATCCTACAGAAATAAAAGCACCAGTGGGTTGTATCCAAGAGCAAGGATGTTAATTAGCAGAGTTTCTAGTGGCCCAGAACTGGAAGTAATCTGAATGCTTATCGGTGGAGGAATGGTTGAAAAATTGGTCTATTCACAATATGAAATGTTTTGCAGCTAGTGAAAGATTTAGATCAAGAAAGATGTGCACTGATCTGTGTTAAGTGAAATAGGTAAACTATAGGCAATTAGGTAAAGTGTGTCTCACTTTTATAAAAAAAGCACAAAAAATATATATGTACATACACACTGTATTAGTTTTCTGTTGCTGCTGTAACAAATTACCACAAACTTGGTGGCTTAAAACACAAATATATTCTCTTCTAGTTCCGGAGGCCAGAAGTCAAAAATCAGTCTCACTGGCTAAAGTCAAGGTGTCAGCAGGGCTGGTTCCTTCTGGAGGCTCTAGGAGAGAACCCATTTCTTTGACTTTTCAGCTTTAGAGGTTGCCTGTATCCCTTGCCTTTTGACCCCTTCCTCATATCACTCCAACCACTTGCTTCTGCTGTTACATTTCCTACTTCCTCCTTTGACCTTGCCTCT
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TGTGAAAGGTTCAGCATAGCTCTGGCCCCAGGCCAGCCAGAAGGTGCCCACTGGAGATTGTGGATAATCTTGGGGATGGTCTGGGCTGAGCCCGTGGGTGGGACCGCGCTTTGCTGCCTACTTGACTTTGAAGCCCCTGGTTCTGTGTTTCAGTGCATTCATCTCCCAGGCTTCTGCCACGATGCACCTTCCAGCCACCATAGGTGAGTGCAGTCTCTTCACCAAGATAAGAACGGAGCAGCTTCGTGGGCCAAGAGGGCTGGCCAGGTGCTTTGGTTCTGCATCTGTGTGGAGGGTCCCTGCTGGTGGGGGGAGATGGAGGAGGGGCTCTGGGGCTGTTACCCGCTCCTCATCACTGACCTTTCCCAGCATCCAGGCCCGGCATTCACTCAGGCTATTATCTTGCCTCAGGTAGTGAGTTGCAGACTGCTCAAGTTCATGACTAGCCGCATGGCTCCCTGCACAGCAAATTGCTTTCCTTCCCCCAAAGGCTATGGGACAAATTCTCTGAGCTCAGTCTGTGAGTCAGCAGTTTTGAGGATAGAGGCCAGAGGGCTATGAAGGGCCCCAGTTTGAGCACGTGGCAGGATGTCTGGTTGGAGTGTCATTCAGGAAGTTGGAGCTGTTGAAACTCTCAACCTGAAGCAGAGAGAGAGGCTGGCTCAGCCTGCGGCCCAAAGCACAGCCCTCTTCCTTGTGCACAGGTCTCCTCTGCTGGGCTACCTGGGCACCTGTGAGCTGAGGGGCCAGTTGACCCTGCCCCTGGGGTACACTGCCTCTCTGGAACAGCTCCTGCTGTCCGGGGAGAGTCCTTTGCTGCTGGGCTGCTTGGGCTAAGCTGACTGGAGGATGGGGTTGGGGACAGGGGCCGAGTCACCTGCCTCCTCCCAGCCCCTCTCACTCCCCACTCTCATACACTCATGGGACTGTGCTATGTTTTGGCAAACCAGCTGTTGTGCAAACCATATGTCTTTCAGGGATATCATGTCTGGTTGACTGATGGTGCCCTTTCTTGTTTTTTTTTTTTTTTGTTATGGATTTATTCTTTTGAAAAATCTCTCAGCTATTACTTCTGTGCAATGGGACTGAAGATGGGAAGCAGCAGCTAAGGCTCCACCTGCCCTGTGGACTGTTCTTCCTCTCCTCACCCTTCACCATGACTGTTGCTAGTCTAGGCTGTTGGTATTGATGAATATCCAGCATTTTTTTTTTTTGAGGAGACATTTAGGAAGATAAAACAGGCAGACTGTCCCAACTGGTTTTTCTTTCAGATTTTTAATTCTCCGAATGGTAGATATGCCTACAGCTTGCTGGCTAGCCCATTCAGTTCATCATAATCAACAAGCACTGATATGCATCTGCAGTGTGCAAGCCCTTGTCCTTGGCACTCGGGCAGAGTCCAAGAAAATGAGGACTGGGCTGGGGCTGTCCTGGAATGTCCACAGTCTAGCAAAGATGTGCACACACATAACTGGAGCACCAGTGGGAAGCGAAGCCTGCCCCAGAAGGATTCAGGGGAGGGGATTTGGAGGGGGAAGAGATCCTGCTAGAGAGAGCAGGGAGGGCTTCAGGGAGGAGCGGGCCTCAAAGAGTTGCCAGGATTTGAATACACAGGGACAAGGGAGAAGTCAATCAGTATAGGCGTGGTGAGGGAGCCTGTGGGAACTCGGGAATGGCAGTTGTGTGTGGGAAAAGTGGGGAGCCTGAGAAGGGAGGTGGTATCAGCCACTTGGTGTTCACATTCCACTGTCAGTTTCAGAAAGTCTGGACTCCTGATTTCTTATTTGTTTCTCAGCTGAGGGCTCTAAAAACAAATCTTCAGTGAGGATATTTTATATTGCATTTGGTGCTGCCATTGCTGGCTGCAGGCTGAGCTCTGGATGTGTAAACAGTATTGTGTGCACACTCGTGGCTCCAGTGCTTGGAACAGTCCATTCTTCCTGAGGCATGTGGGTTGCTGATGGGATCTGTTGGGTCTTTCCTCTGCAGGAGACTACACAGACTTCTATTCCTCTCGGCAGCATGCTACCAACGTCGGAATCATGTTCGGGGACAAGGAGAATGCGTTGATGCCAAATTGGTATGAACTGGGCCAAATGTCTGCATAAGTTCAAAGTCTTTCTTTTCATTTCCAGCAGCATATTTGTCTCAGGAGCTGCCAAGTTCTTCTTAAAGTAAACTGGGGAGGAAAAGCAGTTATGATGTTGCAACCTCTGGAAGCAGTGGTCTCAGCTTCTGGTCTCCTGCTCAGCTTGGCTTAGGACTTGCTGTGGGATCGAAGGGCAAGTCCCTTAAACTTCCTTGGACAGCAGGGGTTGGAATTAGATTCCCTTAATCCCTATGCTCCTTCTGGAGTCTTTCATTTATAAGCTGTGTATTATTGTACTATGGGCAAGTCTTAGACTCTAGCATGCTCCATACTTACATTTTCTGATGAATGAGAATCCTCAAATGTGCCCAGTGCTGTATATTCCTCAACATGTGATCGGTTTCATTCATTTGTTTGATCCTCGTAGTAGTTCTCTGATGTCACAAGGCCATGATTGTAAGCCCCATTTTACAGACAGGAAAATGGGCTCAGAGAAGGATCAACTTGCCTGAGCACAACAGGGCCACAGCCTGTCTCCCAGCCCCCAGATCAGGCCATTGACCAAGCTGAGGATGCAGAGCTGGGATCCTTGCCCTTTGTTCTGTGTTGTCCCCTGGATGTGATGGTTCCTTGGAACTGAAGAGGGCCTGGACTCAGTGGCAGGCATACACTCCAGGCCCCAGTGCCATCAGTCACACACAGGAGCTGGGTTAGGGACGGGGCTTTACTCTCTCTCGAGTGAGTGTCTCCAGTAGGCTATGCCATGAGGGGAGGGTCTGTTAGAACCAAGATGAGGAAGAAAGAAAGGGAGAGAGAGCAGTTCCAAGCCAGAGATGTTGAACAACAAGGCCAAGGTTGCAGAATGAGGCAGGGGTGAATCTGAGACCAGAACCCAGGCTCCAGGTTCCAGGCTTCCACGTGAGATGCGCAAATATTTGAGAATCTTGCACTGTACAGGCTCCAGGCTGTATTTGTCCCCAGCCAGCTTCAACTTGTCTATCTGATGGGCTGAGTGTCTATATGAGTGTCCTTGGCAGTGATGACCCAGTGGACTGCCCAGCCCCAGAAGAGCTGGCTGTCACCTGTGTGCCAGGATCCCAGTGGCCAAAGGGCAGGGGCACCAGGAAGTGAGAGGAGAGCCGGGACCTGGGAAATGAGTGTTGACTGTGTCTGAAACCGAGTGTGGGGGCCGCAGCCATCCTTGCCCCATGTCCTTCTGCAGAATAAGAGTAAACAGGCCTTCTCTAGCCATGTTTGATGCAAGATGGCCCACAGCTGTGACTTTTTAGCTTTATGTACATAGTCTTTATTATAAAGGTAACATATATTTACTGGAATTAACCCAAACACTACAGAAAATATGTAAACATTTACAATTAAAAATGTGTCTACTCTTTGACCTGCAATGCTCACTTTCATGCATCTATCCTACAGAAATAAAAGCACCAGTGGGTTGTATCCAAGAGCAAGGATGTTAATTAGCAGAGTTTCTAGTGGCCCAGAACTGGAAGTAATCTGAATGCTTATCGGTGGAGGAATGGTTGAAAAATTGGTCTATTCACAATATGAAATGTTTTGCAGCTAGTGAAAGATTTAGATCAAGAAAGATGTGCACTGATCTGTGTTAAGTGAAATAGGTAAACTATAGGCAATTAGGTAAAGTGTGTCTCACTTTTATAAAAAAAGCACAAAAAATATATATGTACATACACACTGTATTAGTTTTCTGTTGCTGCTGTAACAAATTACCACAAACTTGGTGGCTTAAAACACAAATATATTCTCTTCTAGTTCCGGAGGCCAGAAGTCAAAAATCAGTCTCACTGGCTAAAGTCAAGGTGTCAGCAGGGCTGGTTCCTTCTGGAGGCTCTAGGAGAGAACCCATTTCTTTGACTTTTCAGCTTTAGAGGTTGCCTGTATCCCTTGCCTTTTGACCCCTTCCTCATATCACTCCAACCACTTGCTTCTGCTGTTACATTTCCTACTTCCTCCTTTGACCTTGCCTCT
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Task1_train_21768
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A genomic change on Chromosome 15 affects FAH (fumarylacetoacetate hydrolase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Tyrosinemia type I
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GGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGGGCTTCCCTGTGATTTCTCTGGATTCAGTCCAGAGGAGGGAAATGAGTGGGCACTGCCGAATAGCCCGTGGATAGCAGGGCATTCCCTGCCAGCCCTCTGCCTCCTCCTGCCTTAGCAAGGGTACTATGTGAGACTGCGGGAGGAGGACCCCCAGCTGAGATTCATCAGAGCAGGGCATCTGAGCCCTGGTTTGGGGCCATGGTCTTCTCTCTGGGAGAACTAAGGACTCTGCAGGCAGACACTTCACCTGTTGAGAGGGAGAGAGAAAAGACAGAGAGTCAGCATGTGGAGAAATGGTTGGGGCAGAGAGCCCAGGTCACCTGGACTAGTGCTTTTGGGTTCTTTTTTTCATCTTGATGAAAAATTTGCAATGTTTAACTATTGTCACAGAACAAATAAAATGGTGACTAAGTTTTGCAAATGTCATGGCTGAGTCTATGTTTTTCAAAGAGATTTTCCCAAATTTTTCTTTCTAATGATGCCTGGCTAGTCTGCTGGTTCATGGACATCACGTTGGTGCTGTTTTTCTTTAGAGGTAGTGGGATGACAGATAGGGGTTAGAGGCCGTGGGGTGTGCTCTCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCC
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GGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGGGCTTCCCTGTGATTTCTCTGGATTCAGTCCAGAGGAGGGAAATGAGTGGGCACTGCCGAATAGCCCGTGGATAGCAGGGCATTCCCTGCCAGCCCTCTGCCTCCTCCTGCCTTAGCAAGGGTACTATGTGAGACTGCGGGAGGAGGACCCCCAGCTGAGATTCATCAGAGCAGGGCATCTGAGCCCTGGTTTGGGGCCATGGTCTTCTCTCTGGGAGAACTAAGGACTCTGCAGGCAGACACTTCACCTGTTGAGAGGGAGAGAGAAAAGACAGAGAGTCAGCATGTGGAGAAATGGTTGGGGCAGAGAGCCCAGGTCACCTGGACTAGTGCTTTTGGGTTCTTTTTTTCATCTTGATGAAAAATTTGCAATGTTTAACTATTGTCACAGAACAAATAAAATGGTGACTAAGTTTTGCAAATGTCATGGCTGAGTCTATGTTTTTCAAAGAGATTTTCCCAAATTTTTCTTTCTAATGATGCCTGGCTAGTCTGCTGGTTCATGGACATCACGTTGGTGCTGTTTTTCTTTAGAGGTAGTGGGATGACAGATAGGGGTTAGAGGCCGTGGGGTGTGCTCTCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACAACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCC
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Task1_train_21769
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This mutation is located in gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; FAH-related disorder
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GGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGGGCTTCCCTGTGATTTCTCTGGATTCAGTCCAGAGGAGGGAAATGAGTGGGCACTGCCGAATAGCCCGTGGATAGCAGGGCATTCCCTGCCAGCCCTCTGCCTCCTCCTGCCTTAGCAAGGGTACTATGTGAGACTGCGGGAGGAGGACCCCCAGCTGAGATTCATCAGAGCAGGGCATCTGAGCCCTGGTTTGGGGCCATGGTCTTCTCTCTGGGAGAACTAAGGACTCTGCAGGCAGACACTTCACCTGTTGAGAGGGAGAGAGAAAAGACAGAGAGTCAGCATGTGGAGAAATGGTTGGGGCAGAGAGCCCAGGTCACCTGGACTAGTGCTTTTGGGTTCTTTTTTTCATCTTGATGAAAAATTTGCAATGTTTAACTATTGTCACAGAACAAATAAAATGGTGACTAAGTTTTGCAAATGTCATGGCTGAGTCTATGTTTTTCAAAGAGATTTTCCCAAATTTTTCTTTCTAATGATGCCTGGCTAGTCTGCTGGTTCATGGACATCACGTTGGTGCTGTTTTTCTTTAGAGGTAGTGGGATGACAGATAGGGGTTAGAGGCCGTGGGGTGTGCTCTCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCC
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GGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGGGCTTCCCTGTGATTTCTCTGGATTCAGTCCAGAGGAGGGAAATGAGTGGGCACTGCCGAATAGCCCGTGGATAGCAGGGCATTCCCTGCCAGCCCTCTGCCTCCTCCTGCCTTAGCAAGGGTACTATGTGAGACTGCGGGAGGAGGACCCCCAGCTGAGATTCATCAGAGCAGGGCATCTGAGCCCTGGTTTGGGGCCATGGTCTTCTCTCTGGGAGAACTAAGGACTCTGCAGGCAGACACTTCACCTGTTGAGAGGGAGAGAGAAAAGACAGAGAGTCAGCATGTGGAGAAATGGTTGGGGCAGAGAGCCCAGGTCACCTGGACTAGTGCTTTTGGGTTCTTTTTTTCATCTTGATGAAAAATTTGCAATGTTTAACTATTGTCACAGAACAAATAAAATGGTGACTAAGTTTTGCAAATGTCATGGCTGAGTCTATGTTTTTCAAAGAGATTTTCCCAAATTTTTCTTTCTAATGATGCCTGGCTAGTCTGCTGGTTCATGGACATCACGTTGGTGCTGTTTTTCTTTAGAGGTAGTGGGATGACAGATAGGGGTTAGAGGCCGTGGGGTGTGCTCTCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACAACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCC
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Task1_train_21770
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Gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Tyrosinemia type I
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TCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCCTGCCTTCCTCTGTGCCAGCCCTTCCCCAACACCATTTAGGTACAACACTACTATTCCCCCTCTGAACTATTATTTACTTAATGTTTTCCTTCAGAGTGGCTCCCAGTTTAAACTTAATATATTAAGAAGGGAACTTTATATTCCTACTGGCATCACTAGCTACACTGTTTCATAACCATTAGTATCACCAAAAACGATCTCATGTCCCGTGGGTGACTCATGTACCATGCTTTGGAAAACACTGCTTTTGGCCGGAGTGCAGGCGTTCTGGCCCAGCCATCCAAGCTGCCTCCCTAGCTGGCTCCAGCACCAGCCAGGGCTGTCTACTTCTGTTGTGACCCCTCTGCCTTCCAGGGGCCCTGCAATGCGCTTTCAGGCCCAGCCTTTCCTCACAGGCCAGGCTTTGTTCTCCATCTCGGCCTGTCTGCTGCCCACCTTCCCTTTCTCTCCCCTCCTGTGGCTTTCAGGAACATCTCTGGTTTGGCTCCTGTGACCTTTGACCTGCTGATGCCCCTTCCTTGGCTGCATTTCCTAGAGACCCACAGTATGATCCCCCCTACTGCTATCCAGGGACACAGTGCTGGGTCCCTGGAGAGGGAATGCTCCTGCTGTCTCAGACCCTCTGCCTAGGGGAGCAGGTGCTGCTGGGGGCCTGGCTGGTATGGGGGCCCAGCCGGGTGAGCTCAGCCCACCTGCCAGTGACCTCTGTGCTGTGCTTTGCCCTCTCAGGACCCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCTGTTAACCTGAAAGGTATG
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TCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCAGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCCTGCCTTCCTCTGTGCCAGCCCTTCCCCAACACCATTTAGGTACAACACTACTATTCCCCCTCTGAACTATTATTTACTTAATGTTTTCCTTCAGAGTGGCTCCCAGTTTAAACTTAATATATTAAGAAGGGAACTTTATATTCCTACTGGCATCACTAGCTACACTGTTTCATAACCATTAGTATCACCAAAAACGATCTCATGTCCCGTGGGTGACTCATGTACCATGCTTTGGAAAACACTGCTTTTGGCCGGAGTGCAGGCGTTCTGGCCCAGCCATCCAAGCTGCCTCCCTAGCTGGCTCCAGCACCAGCCAGGGCTGTCTACTTCTGTTGTGACCCCTCTGCCTTCCAGGGGCCCTGCAATGCGCTTTCAGGCCCAGCCTTTCCTCACAGGCCAGGCTTTGTTCTCCATCTCGGCCTGTCTGCTGCCCACCTTCCCTTTCTCTCCCCTCCTGTGGCTTTCAGGAACATCTCTGGTTTGGCTCCTGTGACCTTTGACCTGCTGATGCCCCTTCCTTGGCTGCATTTCCTAGAGACCCACAGTATGATCCCCCCTACTGCTATCCAGGGACACAGTGCTGGGTCCCTGGAGAGGGAATGCTCCTGCTGTCTCAGACCCTCTGCCTAGGGGAGCAGGTGCTGCTGGGGGCCTGGCTGGTATGGGGGCCCAGCCGGGTGAGCTCAGCCCACCTGCCAGTGACCTCTGTGCTGTGCTTTGCCCTCTCAGGACCCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCTGTTAACCTGAAAGGTATG
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Task1_train_21771
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A variant on Chromosome 15 in gene FAH (fumarylacetoacetate hydrolase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; not specified
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TCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCCTGCCTTCCTCTGTGCCAGCCCTTCCCCAACACCATTTAGGTACAACACTACTATTCCCCCTCTGAACTATTATTTACTTAATGTTTTCCTTCAGAGTGGCTCCCAGTTTAAACTTAATATATTAAGAAGGGAACTTTATATTCCTACTGGCATCACTAGCTACACTGTTTCATAACCATTAGTATCACCAAAAACGATCTCATGTCCCGTGGGTGACTCATGTACCATGCTTTGGAAAACACTGCTTTTGGCCGGAGTGCAGGCGTTCTGGCCCAGCCATCCAAGCTGCCTCCCTAGCTGGCTCCAGCACCAGCCAGGGCTGTCTACTTCTGTTGTGACCCCTCTGCCTTCCAGGGGCCCTGCAATGCGCTTTCAGGCCCAGCCTTTCCTCACAGGCCAGGCTTTGTTCTCCATCTCGGCCTGTCTGCTGCCCACCTTCCCTTTCTCTCCCCTCCTGTGGCTTTCAGGAACATCTCTGGTTTGGCTCCTGTGACCTTTGACCTGCTGATGCCCCTTCCTTGGCTGCATTTCCTAGAGACCCACAGTATGATCCCCCCTACTGCTATCCAGGGACACAGTGCTGGGTCCCTGGAGAGGGAATGCTCCTGCTGTCTCAGACCCTCTGCCTAGGGGAGCAGGTGCTGCTGGGGGCCTGGCTGGTATGGGGGCCCAGCCGGGTGAGCTCAGCCCACCTGCCAGTGACCTCTGTGCTGTGCTTTGCCCTCTCAGGACCCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCTGTTAACCTGAAAGGTATG
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TCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCAGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCCTGCCTTCCTCTGTGCCAGCCCTTCCCCAACACCATTTAGGTACAACACTACTATTCCCCCTCTGAACTATTATTTACTTAATGTTTTCCTTCAGAGTGGCTCCCAGTTTAAACTTAATATATTAAGAAGGGAACTTTATATTCCTACTGGCATCACTAGCTACACTGTTTCATAACCATTAGTATCACCAAAAACGATCTCATGTCCCGTGGGTGACTCATGTACCATGCTTTGGAAAACACTGCTTTTGGCCGGAGTGCAGGCGTTCTGGCCCAGCCATCCAAGCTGCCTCCCTAGCTGGCTCCAGCACCAGCCAGGGCTGTCTACTTCTGTTGTGACCCCTCTGCCTTCCAGGGGCCCTGCAATGCGCTTTCAGGCCCAGCCTTTCCTCACAGGCCAGGCTTTGTTCTCCATCTCGGCCTGTCTGCTGCCCACCTTCCCTTTCTCTCCCCTCCTGTGGCTTTCAGGAACATCTCTGGTTTGGCTCCTGTGACCTTTGACCTGCTGATGCCCCTTCCTTGGCTGCATTTCCTAGAGACCCACAGTATGATCCCCCCTACTGCTATCCAGGGACACAGTGCTGGGTCCCTGGAGAGGGAATGCTCCTGCTGTCTCAGACCCTCTGCCTAGGGGAGCAGGTGCTGCTGGGGGCCTGGCTGGTATGGGGGCCCAGCCGGGTGAGCTCAGCCCACCTGCCAGTGACCTCTGTGCTGTGCTTTGCCCTCTCAGGACCCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCTGTTAACCTGAAAGGTATG
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Task1_train_21772
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This alteration in FAH (fumarylacetoacetate hydrolase) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Tyrosinemia type I
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CTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCCTGCCTTCCTCTGTGCCAGCCCTTCCCCAACACCATTTAGGTACAACACTACTATTCCCCCTCTGAACTATTATTTACTTAATGTTTTCCTTCAGAGTGGCTCCCAGTTTAAACTTAATATATTAAGAAGGGAACTTTATATTCCTACTGGCATCACTAGCTACACTGTTTCATAACCATTAGTATCACCAAAAACGATCTCATGTCCCGTGGGTGACTCATGTACCATGCTTTGGAAAACACTGCTTTTGGCCGGAGTGCAGGCGTTCTGGCCCAGCCATCCAAGCTGCCTCCCTAGCTGGCTCCAGCACCAGCCAGGGCTGTCTACTTCTGTTGTGACCCCTCTGCCTTCCAGGGGCCCTGCAATGCGCTTTCAGGCCCAGCCTTTCCTCACAGGCCAGGCTTTGTTCTCCATCTCGGCCTGTCTGCTGCCCACCTTCCCTTTCTCTCCCCTCCTGTGGCTTTCAGGAACATCTCTGGTTTGGCTCCTGTGACCTTTGACCTGCTGATGCCCCTTCCTTGGCTGCATTTCCTAGAGACCCACAGTATGATCCCCCCTACTGCTATCCAGGGACACAGTGCTGGGTCCCTGGAGAGGGAATGCTCCTGCTGTCTCAGACCCTCTGCCTAGGGGAGCAGGTGCTGCTGGGGGCCTGGCTGGTATGGGGGCCCAGCCGGGTGAGCTCAGCCCACCTGCCAGTGACCTCTGTGCTGTGCTTTGCCCTCTCAGGACCCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCTGTTAACCTGAAAGGTATGTTG
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CTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAGCAATGAAAATTTTTATTTATTTTATTTTTTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGTGATCTCGGCCTGCTGCAGCCTTGACCTCCCTGGCTCAAGCAATCTTCCCACATAAGCCTCCCAAGTAGCTGGGACTGCGGACATGTGCCACCATGCCTGGCTAATTTTGTTTATTTTTTGTAGAGGTGGGGTCTCACTATGTTGCTCAGGCTTGTCTCAAACTCCGAGGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTATAGACGTGAGCCACAGTGCCTGGCCTGGTTTTTCATGACATGAATACAAACCCTGATAGTTTCAGTTTTACAAGCCTCATGTGGCTGTCAAGTCTTGAAAGGCAAAGGCTGTATGGGATGAAGAGGAAAGAGCAGAGTGGCCTGGGATGCACTGAAGGGAGGGGAGGCTGCTTTGGAGCTCAGGGGAGTGGAAGGAAGGCCGATGGCGGGGGCAGGGCACACCACTGCACTCTGCTTTCCTGAGGCGTCCATCTGACCTCTGACTTAGAAACACAGTGGATTCATGCCAGGCCCCTGTGGCAGTCCTGGTCCATGGCTGGAGTTTGGAAATACCTGACCTTTGCTCTCTAGGTGACAAGTGACCTGGGCGGCAGATCAGCTCCAGATTCTAATGAACTCTCCCCCATGTAAGGCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAGGCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTGGTAATTACTGGAGCTCTGCTCCTGTAGAGATGACGGGGAGGAGGCTGGGGACTTGGGGCAATTTCATAGAAGCTGAAGATCTGGTGCAGGTCAAAAGTGGCAGGTGATGCAGTGACTGAGAGTGGGGGTCTGGGTATCAAACAGACTTTCAGCTCTAAGAACTCGGGCCACTCACTTAACTCCTCTGAGCTCCAATTTTCTCGAGTGGCTAGGGACACGGCTGACATCATAACTAATATTTACTGAGCACTTATGTGTCAGGCCCTGTGCTTAACACCCTTCGTATATTCTCCCGCTGATCCCTACACGGTATGTGCAATATTATCTTCCCATTTTACAGATGAGGAACTGAGGCACAGGGAGATTTCAGTTAGTTGCTGAACTAAGATTTGAAGCAAAACAGTCCAGCTTCTGAGCCTGAGCTCTCAACCCTTTGCCATACGTGGGAGGAAGATGGCACCATAAGCCCCAGAAAGTGTCTCTCTCATAGTTTGAGAATGAGCTTCCAGCCCCTTCCTGGGAGATATCCTGACCACCGTTTGGTCATCCTTCTCTTTGCTGTAACCTGGCACAGTGCCCTCAAAGGACCTCTGTCCTTGGCATTGAATGCTCTTGCCCCTTTGTCCTGGGGCAGCCTGACTGGGGCTGATCTTTGTGGAGATGGCAGTGCTAGGTGTCTCTGCTCCTTGGTCAAGGGCAGGAGGGGGTCGTTGGGAGATGCCCTGATCAGCCTTTGTAAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTCTCGGGACATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAGGTAAGCACATTCTCTGCAGGAAGCTCCCAAACCCAGCCCTGCTGCCTCTGAGGCTGCTTGCCCACTGAGTGGACATGCCAGGCATGCAGACCATCAGGAGGGAAGCTCTGTGCCCACGGCATGCCCACAGCAGAGTGCCTGGGAGTTCCTGGCCACGATTACTTCCAGGCAGCCAGGGCATCATTCTCCCTTGTGGTTTCCCTGGCCCTGGCACAGTTCTTGGAGAAAACACAGAATTTTGTAACCTTAAGAATCTTGCAAGACCCGGGGGATCTGGCCAGTTGGCAGGAGGAGTCCCTGCAGGTACCAACATTGCACAACCTCCCAGGTGGCCATCAAATCTTGTTCTGTGCAAATGGCGCCACCTGGACCCCAACTCATAGAATGCAGCTTGGAGCCCAGCAACAGGGAGTCCCTGCAGCCTCTGGTTCCCGGCACCGCTTGGTCTACCACTGGGTCTAGGCCTTGACCCCTGGTTCCAGTCCTCCCTTCTCAGCCTGTTGCAATCTGCCCCACTCCATCACTGGCAACACCTGGCCAGAGTCACCTGTGACCCGATAGTCAGTGTCATGACCTTGTGTCCCCTTCAGCATGGACTTCCTGTGGCCCCTCACTCTTGTTGGCATTCCCTCACCCCTTGGTTTCTGGCATGTGACCTGTCCTCGTTCTCCAGTGTCTCTGAGTCCTCACGATGCCCCTCTCCAATTCTGACCTCCCTGTGGGGATCCAGGCTGAGCTCCCAGCCATTTGCACATCCTCGCTTGAGCATCTCACCACGCATTTGCTGGGGGCCTCTACCAACACCCGGTGCTGGTCCTGCACCCACACTGCTCTCCCATGCTCCTCTGCCTCTGGGGTCATCTCATGTTTGCTGTGCTACAAACAACCCTGAGGTCTTTCCTTGCAAGCCAGTTCTAGTGAAGTCCTGTGGGGCTTTCACCCTCATCCCTTGCTCTCTCCTCGCTGCTCCCTACCACAGCACCCCCTGCCCACCCTGGTCATTTTCAGTCGCCAGGACTTGACTTTCTCTCTAGCTGGCAGCGGCCTTGTCTAGTCTCCCTAGGGCTGCAAGGCCACAGCCTCTCTTTGCTTGTCCTCCAGTCATCTGCCTTCTTCCGGGTCGGTCATCACAGGGTTTTGCCTGCCTTCCTCTGTGCCAGCCCTTCCCCAACACCATTTAGGTACAACACTACTATTCCCCCTCTGAACTATTATTTACTTAATGTTTTCCTTCAGAGTGGCTCCCAGTTTAAACTTAATATATTAAGAAGGGAACTTTATATTCCTACTGGCATCACTAGCTACACTGTTTCATAACCATTAGTATCACCAAAAACGATCTCATGTCCCGTGGGTGACTCATGTACCATGCTTTGGAAAACACTGCTTTTGGCCGGAGTGCAGGCGTTCTGGCCCAGCCATCCAAGCTGCCTCCCTAGCTGGCTCCAGCACCAGCCAGGGCTGTCTACTTCTGTTGTGACCCCTCTGCCTTCCAGGGGCCCTGCAATGCGCTTTCAGGCCCAGCCTTTCCTCACAGGCCAGGCTTTGTTCTCCATCTCGGCCTGTCTGCTGCCCACCTTCCCTTTCTCTCCCCTCCTGTGGCTTTCAGGAACATCTCTGGTTTGGCTCCTGTGACCTTTGACCTGCTGATGCCCCTTCCTTGGCTGCATTTCCTAGAGACCCACAGTATGATCCCCCCTACTGCTATCCAGGGACACAGTGCTGGGTCCCTGGAGAGGGAATGCTCCTGCTGTCTCAGACCCTCTGCCTAGGGGAGCAGGTGCTGCTGGGGGCCTGGCTGGTATGGGGGCCCAGCCGGGTGAGCTCAGCCCACCTGCCAGTGACCTCTGTGCTGTGCTTTGCCCTCTCAGGACCCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCTGTTAACCTGAAAGGTATGTTG
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Task1_train_21773
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A variant was discovered in gene FAH (fumarylacetoacetate hydrolase), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Tyrosinemia type I
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CAGTGAGCCATGATCACACCACTGCATTCCAGCATGCGTGACAGAGCAAGACCCTATTTCAAAAAATAAAAATTAAAAAAAGTGCATATTATACATGTACAGCTTGAAGAATTTTCCTAAAATGAACATCCCTGTGCAACCAGCACCCAGATCAGAAATGGAAAATTTCCAGCACCTCAGCAGCCCCGTGGGGCCCTCCAGGTCACTTCATCACTCCCTCCAGCAAAGGTCACTCCTCTCCTGACCTCTGCTACCATGTATTATTTTTTTTCTGTTTTTCAGTTTTATAGAAATGGCATCATAAAGTAGCATGTATTCTTTTGTAGCTGGCATCTTTGTTTTAGTGTTAGATCTGTGAGATTCAACCCTGTTGCTCTTTGCAGTGACAGCTCATTTTTCTCATTGCCTTATAGTGTTGCACTGTATAAATATTCCACAACTGACTTAATTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAACTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAACTGACTTATTTTGTAAGTCACATCAATTCCACAATCGATGGACATTTGGTTGTTTCCGTTGTTTTTGGCTATCACAGAGTTACTGTGAACATTTTAGTACACACCTTTTGGTGCACATATGTGCACATTTCTATTGAGTGTATATCCAGTAATAGGCTTGCTGGGTCATAGAGTACACATAGACTCAGCCTAGGGGTACTTCCAAACAGTTTTTTGAAGTGGTTATACCAGTATATACTCCCACTAGCAGCATGTAAGCATTTTGCCTGCTCCACATCCTCGTCAGCTCTGGTGGTGTTTGCCTTTTCGTTCAAACCGTGCCTGGGATTGTGACTTCAGTTTGCATTTCCCTAATGACTAATGCAGCTGGGCATGTTAGTCATATGTTTATGGTTCATTTGTTTCTTGGCCTTTTGAATATCCTCTGAATCATTGAACTATTTCTAGTTTCCCTAATTTCCCTTCTAATTTAATATTATTCTGGGCTCCTTAGGGCTAGTAAGAAGAAATTAAGGGGCCTCCTTGCAGGGGCTCGTGGGCAAGAATCCATCTTTTGGGTTTCCTATGCCGGGATGTGTGGCTGTAGGAATGGCAATGTGAGAAGCTGTGGCCTGGGACAGGCATGGGCGTGCATTGCATCTGAGCGTCTCGGTGGGCACGTGGTGCCTTGGCCCCCTCTGCCCACAGCCTGACCGCCCACAGCTCTCCCTCGCTCCTTGGCCTGCCCTGACATCGTGTTTGAATCGTTCAGCTCCATTGCCCAGTGTCCATCCCAAGGCCCGGCATGGGAGAATGGGAGCGAGGGCTTTGCTCACGAGAAGCCTCTGCTGTGGTGTGGACTTAGATTCTCCCAATACGGGACTGGAGGGTGTTCCCAGGGCAGAGTGGAGTGTTGTACACAAGGGCATGTTGCAGGCTGAGGGACTGAGCAGTAAGGTCAGCCCTTAGGGGATGCTGCTTGGAGAAGGTGGTCAGTGTGGGCTTGAGGTAGCAGAGGAGCTGAGGTTGGAGTTTGTGAAGGAGATGGAAGAGCTTGGGGGAGGTCTCTGGGCAGCTCCCCAGGAGGACAATGTGTCCTTACTATAAGGGACTGGAGAGAGCTGGCTGGGGGAGCTGGGGACCGGGGAAAGGCCAGGGAAGGCGGTCGTGAGCAGGGCAGGCTGTGCCCAGCTGCCTCCGGGATGCTAGGCTAAGCCTGCCGCTGCTCATTCCACCTCGCGTCCATTGCCTGCAGTACATGTACTGGACGATGCTGCAGCAGCTCACTCACCACTCTGTCAACGGCTGCAACCTGCGGCCGGGGGACCTCCTGGCTTCTGGGACCATCAGCGGGCCGGTGAGTATCTGGCTGCACTGAGGGCTGCCCACGCAGAGCATCCCTGCTCCCCACACAGCCCCAAGGGCCCTCAGCTCAGCCTCGAGAAGAGATTTCAGGCCCGAGGTGGGTGTATCTCACAACTCTGTCTTCCTCGTAGCCTTTCTCTCTGGGTGCAGGAGGGACTTCTCATCCAAATTCAAACCTAAAGAGACTGGTGTGAGAACGGAAGCCTGGGTCTCTGCCTCTGTAGGGGAGCAGCGCAGTGACACGTGGGGAGGAGTCAGGAGACAGTGATAGTGTCTTGGTTGTCACCATCTCACACTACACCCTCCCAGGATGAGGTGGCCATGCTGCTGTGCCCCTTCCCACCCGCTTGTCCCCCTGTAAGCCTGCGGGAGTCACAGAACCTTCAGAGATGATGACCTTGGGGTGGTGCATGTGTCACTCACTTCCTGCAGGGGGCTGGCCGAGCCCTCTTGTTCCTTGAGCTGTCGACAGGAGGGTGTTAAGCATCACGATATCTGGGCAAACTGCAGCCTCCAGAGCAGGGAGGGGATGCTGCAGGGGGCACTGGGCACTCTGGTCAGGGATTCACTGATTCCTAAACAAGCGATGTCCTTAGTGGAACCATTGCTGTCCCCACAGGAAGAAGGGGCAGAGTTCCATGTCTCAAAGGCATCTCTGCAGTGATCCCACCAAGGCCGAGGCAGGGTCTCTGAGGGGCATGAGGGCCCCCTGCCACTTCTCGGGACTCCCAGGTCTTGCTGAGCATGGTCCATGCCAGAGCCAAGGCATAAATTCATGTTATTCTTTCTTCCCTTTCCTGTGATGAAGGAGCCAGAAAACTTCGGCTCCATGTTGGAACTGTCGTGGAAGGGAACGAAGCCCATAGACCTGGGGAATGGTCAGACCAGGAAGTTTCTGCTGGACGGGGATGAAGTCATCATAACAGGTGAGGGCTGCCAAACCCAGCAGCTCGTCTTCCTCCTTGCCCGCCATGCACTGTTCTAGCTGCGGGGCGCTCCTACCTGGCCATGAAGCCATCTGTTCTCACGCATCCTGACTCTGCCTCCCAGAGTCTCTGCCTGCTTGTTCTGTCCTTCCCCACAGCTATGGCTACCCGGGACTTCAAGTGTGAGTCTCCCTAGGCCAGAAAGACTGTAGACATTCTGCTTGGTCTCCCTTCTCCCTGAGCATAGTTATAAAATACTGGCAGGTTCCTCAAGGTCTAGACTTTGCAGCAAACGCCCTGTGCAGACACTTGGTGACCTATGACTAGGATCAAGGAAGGTTCAGCTGAGTTAGTGACTGAGGCTTCGCAGCAGCCTGTTCCAAGGAGGTGAGGGTGCCTCTTAATTCTTCTGGGGGTGCCATTCTGCCTACCACATTTTACTAATAGAGGGAAAGGGCACCATAATGGTTAGCAGCACACTCTTTAGAGCTGGAAAGGTTCAAGTTGAACTCCCAGGTCCCCCACCAGCTGTGTGACCTTCATTAAGTTATTTAGCCTTTCTGAGACTCAGTTTACCTCATCTTTAATTATTTTTTTTGTTTTTGAGTCGGAGTCTTGCTCTCTCATCCAATCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCCTGTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCTAATTGTGTATGTGTCAGTTTCCGTGCTTAACTAAAAGCTTGTGTTAGTTTCCTGTGGCTGCAGTAACATAGTACCGCAAACTTTGTGGCTTAAAACAACTGAAATGTATTCTCTCACAGCTCTATAAGGTACAAGTTCAAAATCCTCGTGTTGGCAGTGCCATGTTCCTGGAAACTCTGGGGAGCGTCTGTCCCTGGCCTCTTCCAGCTTCTGGTGGAAGCCTCTTTGTCTTGTGGCCACATCACACTGATCTCTGCCTCCACGGTCACATTGTCGCCTCGTCTTCTGTCTCATCTCCTTTACCTCTCTCTTATAACACACATGTGATAGCATTTAGA
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CAGTGAGCCATGATCACACCACTGCATTCCAGCATGCGTGACAGAGCAAGACCCTATTTCAAAAAATAAAAATTAAAAAAAGTGCATATTATACATGTACAGCTTGAAGAATTTTCCTAAAATGAACATCCCTGTGCAACCAGCACCCAGATCAGAAATGGAAAATTTCCAGCACCTCAGCAGCCCCGTGGGGCCCTCCAGGTCACTTCATCACTCCCTCCAGCAAAGGTCACTCCTCTCCTGACCTCTGCTACCATGTATTATTTTTTTTCTGTTTTTCAGTTTTATAGAAATGGCATCATAAAGTAGCATGTATTCTTTTGTAGCTGGCATCTTTGTTTTAGTGTTAGATCTGTGAGATTCAACCCTGTTGCTCTTTGCAGTGACAGCTCATTTTTCTCATTGCCTTATAGTGTTGCACTGTATAAATATTCCACAACTGACTTAATTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAACTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAACTGACTTATTTTGTAAGTCACATCAATTCCACAATCGATGGACATTTGGTTGTTTCCGTTGTTTTTGGCTATCACAGAGTTACTGTGAACATTTTAGTACACACCTTTTGGTGCACATATGTGCACATTTCTATTGAGTGTATATCCAGTAATAGGCTTGCTGGGTCATAGAGTACACATAGACTCAGCCTAGGGGTACTTCCAAACAGTTTTTTGAAGTGGTTATACCAGTATATACTCCCACTAGCAGCATGTAAGCATTTTGCCTGCTCCACATCCTCGTCAGCTCTGGTGGTGTTTGCCTTTTCGTTCAAACCGTGCCTGGGATTGTGACTTCAGTTTGCATTTCCCTAATGACTAATGCAGCTGGGCATGTTAGTCATATGTTTATGGTTCATTTGTTTCTTGGCCTTTTGAATATCCTCTGAATCATTGAACTATTTCTAGTTTCCCTAATTTCCCTTCTAATTTAATATTATTCTGGGCTCCTTAGGGCTAGTAAGAAGAAATTAAGGGGCCTCCTTGCAGGGGCTCGTGGGCAAGAATCCATCTTTTGGGTTTCCTATGCCGGGATGTGTGGCTGTAGGAATGGCAATGTGAGAAGCTGTGGCCTGGGACAGGCATGGGCGTGCATTGCATCTGAGCGTCTCGGTGGGCACGTGGTGCCTTGGCCCCCTCTGCCCACAGCCTGACCGCCCACAGCTCTCCCTCGCTCCTTGGCCTGCCCTGACATCGTGTTTGAATCGTTCAGCTCCATTGCCCAGTGTCCATCCCAAGGCCCGGCATGGGAGAATGGGAGCGAGGGCTTTGCTCACGAGAAGCCTCTGCTGTGGTGTGGACTTAGATTCTCCCAATACGGGACTGGAGGGTGTTCCCAGGGCAGAGTGGAGTGTTGTACACAAGGGCATGTTGCAGGCTGAGGGACTGAGCAGTAAGGTCAGCCCTTAGGGGATGCTGCTTGGAGAAGGTGGTCAGTGTGGGCTTGAGGTAGCAGAGGAGCTGAGGTTGGAGTTTGTGAAGGAGATGGAAGAGCTTGGGGGAGGTCTCTGGGCAGCTCCCCAGGAGGACAATGTGTCCTTACTATAAGGGACTGGAGAGAGCTGGCTGGGGGAGCTGGGGACCGGGGAAAGGCCAGGGAAGGCGGTCGTGAGCAGGGCAGGCTGTGCCCAGCTGCCTCCGGGATGCTAGGCTAAGCCTGCCGCTGCTCATTCCACCTCGCGTCCATTGCCTGCAGTACATGTACTGGACGATGCTGCAGCAGCTCACTCACCACTCTGTCAACGGCTGCAACCTGCGGCTGGGGGACCTCCTGGCTTCTGGGACCATCAGCGGGCCGGTGAGTATCTGGCTGCACTGAGGGCTGCCCACGCAGAGCATCCCTGCTCCCCACACAGCCCCAAGGGCCCTCAGCTCAGCCTCGAGAAGAGATTTCAGGCCCGAGGTGGGTGTATCTCACAACTCTGTCTTCCTCGTAGCCTTTCTCTCTGGGTGCAGGAGGGACTTCTCATCCAAATTCAAACCTAAAGAGACTGGTGTGAGAACGGAAGCCTGGGTCTCTGCCTCTGTAGGGGAGCAGCGCAGTGACACGTGGGGAGGAGTCAGGAGACAGTGATAGTGTCTTGGTTGTCACCATCTCACACTACACCCTCCCAGGATGAGGTGGCCATGCTGCTGTGCCCCTTCCCACCCGCTTGTCCCCCTGTAAGCCTGCGGGAGTCACAGAACCTTCAGAGATGATGACCTTGGGGTGGTGCATGTGTCACTCACTTCCTGCAGGGGGCTGGCCGAGCCCTCTTGTTCCTTGAGCTGTCGACAGGAGGGTGTTAAGCATCACGATATCTGGGCAAACTGCAGCCTCCAGAGCAGGGAGGGGATGCTGCAGGGGGCACTGGGCACTCTGGTCAGGGATTCACTGATTCCTAAACAAGCGATGTCCTTAGTGGAACCATTGCTGTCCCCACAGGAAGAAGGGGCAGAGTTCCATGTCTCAAAGGCATCTCTGCAGTGATCCCACCAAGGCCGAGGCAGGGTCTCTGAGGGGCATGAGGGCCCCCTGCCACTTCTCGGGACTCCCAGGTCTTGCTGAGCATGGTCCATGCCAGAGCCAAGGCATAAATTCATGTTATTCTTTCTTCCCTTTCCTGTGATGAAGGAGCCAGAAAACTTCGGCTCCATGTTGGAACTGTCGTGGAAGGGAACGAAGCCCATAGACCTGGGGAATGGTCAGACCAGGAAGTTTCTGCTGGACGGGGATGAAGTCATCATAACAGGTGAGGGCTGCCAAACCCAGCAGCTCGTCTTCCTCCTTGCCCGCCATGCACTGTTCTAGCTGCGGGGCGCTCCTACCTGGCCATGAAGCCATCTGTTCTCACGCATCCTGACTCTGCCTCCCAGAGTCTCTGCCTGCTTGTTCTGTCCTTCCCCACAGCTATGGCTACCCGGGACTTCAAGTGTGAGTCTCCCTAGGCCAGAAAGACTGTAGACATTCTGCTTGGTCTCCCTTCTCCCTGAGCATAGTTATAAAATACTGGCAGGTTCCTCAAGGTCTAGACTTTGCAGCAAACGCCCTGTGCAGACACTTGGTGACCTATGACTAGGATCAAGGAAGGTTCAGCTGAGTTAGTGACTGAGGCTTCGCAGCAGCCTGTTCCAAGGAGGTGAGGGTGCCTCTTAATTCTTCTGGGGGTGCCATTCTGCCTACCACATTTTACTAATAGAGGGAAAGGGCACCATAATGGTTAGCAGCACACTCTTTAGAGCTGGAAAGGTTCAAGTTGAACTCCCAGGTCCCCCACCAGCTGTGTGACCTTCATTAAGTTATTTAGCCTTTCTGAGACTCAGTTTACCTCATCTTTAATTATTTTTTTTGTTTTTGAGTCGGAGTCTTGCTCTCTCATCCAATCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCCTGTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCTAATTGTGTATGTGTCAGTTTCCGTGCTTAACTAAAAGCTTGTGTTAGTTTCCTGTGGCTGCAGTAACATAGTACCGCAAACTTTGTGGCTTAAAACAACTGAAATGTATTCTCTCACAGCTCTATAAGGTACAAGTTCAAAATCCTCGTGTTGGCAGTGCCATGTTCCTGGAAACTCTGGGGAGCGTCTGTCCCTGGCCTCTTCCAGCTTCTGGTGGAAGCCTCTTTGTCTTGTGGCCACATCACACTGATCTCTGCCTCCACGGTCACATTGTCGCCTCGTCTTCTGTCTCATCTCCTTTACCTCTCTCTTATAACACACATGTGATAGCATTTAGA
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Task1_train_21774
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Here’s a variant in FAH (fumarylacetoacetate hydrolase) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Tyrosinemia type I
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ACTCAGCCTAGGGGTACTTCCAAACAGTTTTTTGAAGTGGTTATACCAGTATATACTCCCACTAGCAGCATGTAAGCATTTTGCCTGCTCCACATCCTCGTCAGCTCTGGTGGTGTTTGCCTTTTCGTTCAAACCGTGCCTGGGATTGTGACTTCAGTTTGCATTTCCCTAATGACTAATGCAGCTGGGCATGTTAGTCATATGTTTATGGTTCATTTGTTTCTTGGCCTTTTGAATATCCTCTGAATCATTGAACTATTTCTAGTTTCCCTAATTTCCCTTCTAATTTAATATTATTCTGGGCTCCTTAGGGCTAGTAAGAAGAAATTAAGGGGCCTCCTTGCAGGGGCTCGTGGGCAAGAATCCATCTTTTGGGTTTCCTATGCCGGGATGTGTGGCTGTAGGAATGGCAATGTGAGAAGCTGTGGCCTGGGACAGGCATGGGCGTGCATTGCATCTGAGCGTCTCGGTGGGCACGTGGTGCCTTGGCCCCCTCTGCCCACAGCCTGACCGCCCACAGCTCTCCCTCGCTCCTTGGCCTGCCCTGACATCGTGTTTGAATCGTTCAGCTCCATTGCCCAGTGTCCATCCCAAGGCCCGGCATGGGAGAATGGGAGCGAGGGCTTTGCTCACGAGAAGCCTCTGCTGTGGTGTGGACTTAGATTCTCCCAATACGGGACTGGAGGGTGTTCCCAGGGCAGAGTGGAGTGTTGTACACAAGGGCATGTTGCAGGCTGAGGGACTGAGCAGTAAGGTCAGCCCTTAGGGGATGCTGCTTGGAGAAGGTGGTCAGTGTGGGCTTGAGGTAGCAGAGGAGCTGAGGTTGGAGTTTGTGAAGGAGATGGAAGAGCTTGGGGGAGGTCTCTGGGCAGCTCCCCAGGAGGACAATGTGTCCTTACTATAAGGGACTGGAGAGAGCTGGCTGGGGGAGCTGGGGACCGGGGAAAGGCCAGGGAAGGCGGTCGTGAGCAGGGCAGGCTGTGCCCAGCTGCCTCCGGGATGCTAGGCTAAGCCTGCCGCTGCTCATTCCACCTCGCGTCCATTGCCTGCAGTACATGTACTGGACGATGCTGCAGCAGCTCACTCACCACTCTGTCAACGGCTGCAACCTGCGGCCGGGGGACCTCCTGGCTTCTGGGACCATCAGCGGGCCGGTGAGTATCTGGCTGCACTGAGGGCTGCCCACGCAGAGCATCCCTGCTCCCCACACAGCCCCAAGGGCCCTCAGCTCAGCCTCGAGAAGAGATTTCAGGCCCGAGGTGGGTGTATCTCACAACTCTGTCTTCCTCGTAGCCTTTCTCTCTGGGTGCAGGAGGGACTTCTCATCCAAATTCAAACCTAAAGAGACTGGTGTGAGAACGGAAGCCTGGGTCTCTGCCTCTGTAGGGGAGCAGCGCAGTGACACGTGGGGAGGAGTCAGGAGACAGTGATAGTGTCTTGGTTGTCACCATCTCACACTACACCCTCCCAGGATGAGGTGGCCATGCTGCTGTGCCCCTTCCCACCCGCTTGTCCCCCTGTAAGCCTGCGGGAGTCACAGAACCTTCAGAGATGATGACCTTGGGGTGGTGCATGTGTCACTCACTTCCTGCAGGGGGCTGGCCGAGCCCTCTTGTTCCTTGAGCTGTCGACAGGAGGGTGTTAAGCATCACGATATCTGGGCAAACTGCAGCCTCCAGAGCAGGGAGGGGATGCTGCAGGGGGCACTGGGCACTCTGGTCAGGGATTCACTGATTCCTAAACAAGCGATGTCCTTAGTGGAACCATTGCTGTCCCCACAGGAAGAAGGGGCAGAGTTCCATGTCTCAAAGGCATCTCTGCAGTGATCCCACCAAGGCCGAGGCAGGGTCTCTGAGGGGCATGAGGGCCCCCTGCCACTTCTCGGGACTCCCAGGTCTTGCTGAGCATGGTCCATGCCAGAGCCAAGGCATAAATTCATGTTATTCTTTCTTCCCTTTCCTGTGATGAAGGAGCCAGAAAACTTCGGCTCCATGTTGGAACTGTCGTGGAAGGGAACGAAGCCCATAGACCTGGGGAATGGTCAGACCAGGAAGTTTCTGCTGGACGGGGATGAAGTCATCATAACAGGTGAGGGCTGCCAAACCCAGCAGCTCGTCTTCCTCCTTGCCCGCCATGCACTGTTCTAGCTGCGGGGCGCTCCTACCTGGCCATGAAGCCATCTGTTCTCACGCATCCTGACTCTGCCTCCCAGAGTCTCTGCCTGCTTGTTCTGTCCTTCCCCACAGCTATGGCTACCCGGGACTTCAAGTGTGAGTCTCCCTAGGCCAGAAAGACTGTAGACATTCTGCTTGGTCTCCCTTCTCCCTGAGCATAGTTATAAAATACTGGCAGGTTCCTCAAGGTCTAGACTTTGCAGCAAACGCCCTGTGCAGACACTTGGTGACCTATGACTAGGATCAAGGAAGGTTCAGCTGAGTTAGTGACTGAGGCTTCGCAGCAGCCTGTTCCAAGGAGGTGAGGGTGCCTCTTAATTCTTCTGGGGGTGCCATTCTGCCTACCACATTTTACTAATAGAGGGAAAGGGCACCATAATGGTTAGCAGCACACTCTTTAGAGCTGGAAAGGTTCAAGTTGAACTCCCAGGTCCCCCACCAGCTGTGTGACCTTCATTAAGTTATTTAGCCTTTCTGAGACTCAGTTTACCTCATCTTTAATTATTTTTTTTGTTTTTGAGTCGGAGTCTTGCTCTCTCATCCAATCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCCTGTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCTAATTGTGTATGTGTCAGTTTCCGTGCTTAACTAAAAGCTTGTGTTAGTTTCCTGTGGCTGCAGTAACATAGTACCGCAAACTTTGTGGCTTAAAACAACTGAAATGTATTCTCTCACAGCTCTATAAGGTACAAGTTCAAAATCCTCGTGTTGGCAGTGCCATGTTCCTGGAAACTCTGGGGAGCGTCTGTCCCTGGCCTCTTCCAGCTTCTGGTGGAAGCCTCTTTGTCTTGTGGCCACATCACACTGATCTCTGCCTCCACGGTCACATTGTCGCCTCGTCTTCTGTCTCATCTCCTTTACCTCTCTCTTATAACACACATGTGATAGCATTTAGAGCCCACCTAGACAATCTCCTCATTCTAAGATCCCAACTTAATCACATCTCCAGAAAATTTACTATATAAGGTAACATTCACAGGTCCTAGGGATTTGGCCGTAATTTAGTCCACTCCAGAGCTCTTGGAGAGCAAAGTTTAGTCCAAGTAGCAGCCACATAGTGCATGCCCAGTGTGGCTGTTGGTTAGTTCTTTGAATAAAGTGGATTTGGTAGAGAAGATGCAGGCAGAGCTCAAAACAGCAGATGATACCCATTATTAATCAATAAATACCCATTTTGCTCCCATTTCTGCAGCCTAATTATACCTCTCTAATTTGAATTTGACTATTTACTGAACATCTGCTAGGAGCCAACCATATTGCAGGCATGTCCACCTTCCTTATTTCATTTTCTACTCACAATAGCCCTTTGATGATATAATATCATTGCCCCCATTTTGCAGAGTCGAAAACTTAGGCTGATAGAAGGCAGGTTACTTGACAAAAGTCCCACAACTGGGGAAGCCAGTCTGCAACTGAGGTCTTCTGATTCCCCTGCCAAGTTTGTTTCTAGTCTTTCTGCAATGCTTGCCAGACCTACCGCAGGCCTTTGGTCACGGTTCTGTGGATTGAGTGAAAGCATTTTCTGAAGTTTTGATTTGGGGAAAGGAAGGAAAGAGATGGTGGCAGAAGAGAAAATGATGGCTTTAACTCTCTGTTGTCAGTGTGATAAGGGCCCCTGACTAAGCCATGCTAGACCAGGCAGCTGTCCAGGGCCTGGGAGAAAGGAGGCTGGTATCTAGCAGTTGGAATGCACATGTGTTCTTGACATTTGAGCCAGAGAAGGAAGGAGAAAGGAGCCAAGATGCCATGAGAGTCATTTCCATGTTTGTTTGTGTATACAACGCCTTACTCCGGAAGGATTTTTGGAGGCCAGCAGAGGAATTCAGGG
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ACTCAGCCTAGGGGTACTTCCAAACAGTTTTTTGAAGTGGTTATACCAGTATATACTCCCACTAGCAGCATGTAAGCATTTTGCCTGCTCCACATCCTCGTCAGCTCTGGTGGTGTTTGCCTTTTCGTTCAAACCGTGCCTGGGATTGTGACTTCAGTTTGCATTTCCCTAATGACTAATGCAGCTGGGCATGTTAGTCATATGTTTATGGTTCATTTGTTTCTTGGCCTTTTGAATATCCTCTGAATCATTGAACTATTTCTAGTTTCCCTAATTTCCCTTCTAATTTAATATTATTCTGGGCTCCTTAGGGCTAGTAAGAAGAAATTAAGGGGCCTCCTTGCAGGGGCTCGTGGGCAAGAATCCATCTTTTGGGTTTCCTATGCCGGGATGTGTGGCTGTAGGAATGGCAATGTGAGAAGCTGTGGCCTGGGACAGGCATGGGCGTGCATTGCATCTGAGCGTCTCGGTGGGCACGTGGTGCCTTGGCCCCCTCTGCCCACAGCCTGACCGCCCACAGCTCTCCCTCGCTCCTTGGCCTGCCCTGACATCGTGTTTGAATCGTTCAGCTCCATTGCCCAGTGTCCATCCCAAGGCCCGGCATGGGAGAATGGGAGCGAGGGCTTTGCTCACGAGAAGCCTCTGCTGTGGTGTGGACTTAGATTCTCCCAATACGGGACTGGAGGGTGTTCCCAGGGCAGAGTGGAGTGTTGTACACAAGGGCATGTTGCAGGCTGAGGGACTGAGCAGTAAGGTCAGCCCTTAGGGGATGCTGCTTGGAGAAGGTGGTCAGTGTGGGCTTGAGGTAGCAGAGGAGCTGAGGTTGGAGTTTGTGAAGGAGATGGAAGAGCTTGGGGGAGGTCTCTGGGCAGCTCCCCAGGAGGACAATGTGTCCTTACTATAAGGGACTGGAGAGAGCTGGCTGGGGGAGCTGGGGACCGGGGAAAGGCCAGGGAAGGCGGTCGTGAGCAGGGCAGGCTGTGCCCAGCTGCCTCCGGGATGCTAGGCTAAGCCTGCCGCTGCTCATTCCACCTCGCGTCCATTGCCTGCAGTACATGTACTGGACGATGCTGCAGCAGCTCACTCACCACTCTGTCAACGGCTGCAACCTGCGGCCGGGGGACCTCCTGGCTTCTGGGACCATCAGCGGGCCGGTGAGTATCTGGCTGCACTGAGGGCTGCCCACGCAGAGCATCCCTGCTCCCCACACAGCCCCAAGGGCCCTCAGCTCAGCCTCGAGAAGAGATTTCAGGCCCGAGGTGGGTGTATCTCACAACTCTGTCTTCCTCGTAGCCTTTCTCTCTGGGTGCAGGAGGGACTTCTCATCCAAATTCAAACCTAAAGAGACTGGTGTGAGAACGGAAGCCTGGGTCTCTGCCTCTGTAGGGGAGCAGCGCAGTGACACGTGGGGAGGAGTCAGGAGACAGTGATAGTGTCTTGGTTGTCACCATCTCACACTACACCCTCCCAGGATGAGGTGGCCATGCTGCTGTGCCCCTTCCCACCCGCTTGTCCCCCTGTAAGCCTGCGGGAGTCACAGAACCTTCAGAGATGATGACCTTGGGGTGGTGCATGTGTCACTCACTTCCTGCAGGGGGCTGGCCGAGCCCTCTTGTTCCTTGAGCTGTCGACAGGAGGGTGTTAAGCATCACGATATCTGGGCAAACTGCAGCCTCCAGAGCAGGGAGGGGATGCTGCAGGGGGCACTGGGCACTCTGGTCAGGGATTCACTGATTCCTAAACAAGCGATGTCCTTAGTGGAACCATTGCTGTCCCCACAGGAAGAAGGGGCAGAGTTCCATGTCTCAAAGGCATCTCTGCAGTGATCCCACCAAGGCCGAGGCAGGGTCTCTGAGGGGCATGAGGGCCCCCTGCCACTTCTCGGGACTCCCAGGTCTTGCTGAGCATGGTCCATGCCAGAGCCAAGGCATAAATTCATGTTATTCTTTCTTCCCTTTCCTGTGATGAAGGAGCCAGAAAACTTCGGCTCCATGTTGGAACTGTCGTGGAAGGGAACGAAGCCCATAGACCTGGGGAATGGTCAGACCGGGAAGTTTCTGCTGGACGGGGATGAAGTCATCATAACAGGTGAGGGCTGCCAAACCCAGCAGCTCGTCTTCCTCCTTGCCCGCCATGCACTGTTCTAGCTGCGGGGCGCTCCTACCTGGCCATGAAGCCATCTGTTCTCACGCATCCTGACTCTGCCTCCCAGAGTCTCTGCCTGCTTGTTCTGTCCTTCCCCACAGCTATGGCTACCCGGGACTTCAAGTGTGAGTCTCCCTAGGCCAGAAAGACTGTAGACATTCTGCTTGGTCTCCCTTCTCCCTGAGCATAGTTATAAAATACTGGCAGGTTCCTCAAGGTCTAGACTTTGCAGCAAACGCCCTGTGCAGACACTTGGTGACCTATGACTAGGATCAAGGAAGGTTCAGCTGAGTTAGTGACTGAGGCTTCGCAGCAGCCTGTTCCAAGGAGGTGAGGGTGCCTCTTAATTCTTCTGGGGGTGCCATTCTGCCTACCACATTTTACTAATAGAGGGAAAGGGCACCATAATGGTTAGCAGCACACTCTTTAGAGCTGGAAAGGTTCAAGTTGAACTCCCAGGTCCCCCACCAGCTGTGTGACCTTCATTAAGTTATTTAGCCTTTCTGAGACTCAGTTTACCTCATCTTTAATTATTTTTTTTGTTTTTGAGTCGGAGTCTTGCTCTCTCATCCAATCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCCTGTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCTAATTGTGTATGTGTCAGTTTCCGTGCTTAACTAAAAGCTTGTGTTAGTTTCCTGTGGCTGCAGTAACATAGTACCGCAAACTTTGTGGCTTAAAACAACTGAAATGTATTCTCTCACAGCTCTATAAGGTACAAGTTCAAAATCCTCGTGTTGGCAGTGCCATGTTCCTGGAAACTCTGGGGAGCGTCTGTCCCTGGCCTCTTCCAGCTTCTGGTGGAAGCCTCTTTGTCTTGTGGCCACATCACACTGATCTCTGCCTCCACGGTCACATTGTCGCCTCGTCTTCTGTCTCATCTCCTTTACCTCTCTCTTATAACACACATGTGATAGCATTTAGAGCCCACCTAGACAATCTCCTCATTCTAAGATCCCAACTTAATCACATCTCCAGAAAATTTACTATATAAGGTAACATTCACAGGTCCTAGGGATTTGGCCGTAATTTAGTCCACTCCAGAGCTCTTGGAGAGCAAAGTTTAGTCCAAGTAGCAGCCACATAGTGCATGCCCAGTGTGGCTGTTGGTTAGTTCTTTGAATAAAGTGGATTTGGTAGAGAAGATGCAGGCAGAGCTCAAAACAGCAGATGATACCCATTATTAATCAATAAATACCCATTTTGCTCCCATTTCTGCAGCCTAATTATACCTCTCTAATTTGAATTTGACTATTTACTGAACATCTGCTAGGAGCCAACCATATTGCAGGCATGTCCACCTTCCTTATTTCATTTTCTACTCACAATAGCCCTTTGATGATATAATATCATTGCCCCCATTTTGCAGAGTCGAAAACTTAGGCTGATAGAAGGCAGGTTACTTGACAAAAGTCCCACAACTGGGGAAGCCAGTCTGCAACTGAGGTCTTCTGATTCCCCTGCCAAGTTTGTTTCTAGTCTTTCTGCAATGCTTGCCAGACCTACCGCAGGCCTTTGGTCACGGTTCTGTGGATTGAGTGAAAGCATTTTCTGAAGTTTTGATTTGGGGAAAGGAAGGAAAGAGATGGTGGCAGAAGAGAAAATGATGGCTTTAACTCTCTGTTGTCAGTGTGATAAGGGCCCCTGACTAAGCCATGCTAGACCAGGCAGCTGTCCAGGGCCTGGGAGAAAGGAGGCTGGTATCTAGCAGTTGGAATGCACATGTGTTCTTGACATTTGAGCCAGAGAAGGAAGGAGAAAGGAGCCAAGATGCCATGAGAGTCATTTCCATGTTTGTTTGTGTATACAACGCCTTACTCCGGAAGGATTTTTGGAGGCCAGCAGAGGAATTCAGGG
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Task1_train_21775
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Assess the clinical impact of this variant on gene FAH (fumarylacetoacetate hydrolase), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Tyrosinemia type I
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GGATGTGTTCTCGCAGGCATTTGCACGGATGGCTCTGCACTGCTGGACACATGCATTTCTCACTCTCCTTCAGATCTTTGATTTGTTGATAGTTATGATTTGTTGTGGATTCTTTCTTGGTATCTGACATTATTTGGAAACAATATCTGAGCAAAAGTCTTTCGTTTCTTGCCCTGCGTCTCTCAGTGGTGGCGTCTTTCACCTGGTGTTCCTGTGTCTCTGTTTATTCCAGTTTCTCTCCCCAGCATTATTGCTTGCCTTGCCTGGCACAGAATTCCTGCGCAAGGCTGACCAGGGGTCCCAGGGTGTAGAAGCAGTGACCCTTCTCCTTCAGGACCATGGTTGGGAGAGACTCTTTAAAAATGCTGCAGTTCCGAGTTAGTTGTTTTGATAGATGTTTAATAAATTTCTGCTGGGAGCCAGTTTTACTTTAATAGGCTTTTTTTTTCACCCCAGTGGTGTGGATATTTCTGAGCATTGAGGTGGAAAAGAGACTGACAGAAAATAATGAAAATGAGCAACAGAATAGGTGAGGTCGTTGCTCTCGACAAAGGGCATCCCTGCATGTTGTCAGCATGTGGGTCACGGGGCTTCTTAGGGCCCCCCAAAGGACAGCCTCACTGAACAGATGTGACAAATGCATCTCGTGCCTGAGTGTCTGAGCCTTTGCACGTGTTCTTCCCTCTGTCTGGAATGGCATTTTCATGTGTCTTCCCTAATGAACTCCTAGCTACCCGTCAAGGCCCAGCTAAGATATCCCCCCTTCCTGCTCCCTTTCCCTCCATGCTGCTCGCTCAGCACCTTGTAAGCATTTCTCTGTATCTCTCGTCTGGACCTCCCACTCCCTCTAAGTGGACCCCTCTCAAGGGCAGAGATGGGCTTCTCTCTGCTTTTCCATCATCCTTGTTGAAATGGAATTAAATGAAGGAAACTAATATTTATTAGTTTCTGAGATGTGCTGGGAATTTCACTGAAATATTTAGTCTAATCCTTACAACCTTGAGAGATAAGCGTTGTTTTTCTTGTTTGCAGATGAGGGAGGTGAGTTCTGAAGTCAAACAGCTTGTTCCCAGCCACCCAGCTCATAATGGTTGTAATGACTGACACTTACAGGGAATTTCAAATAGGGACTGGAGGCTGTTCTCAGAGTTTTCTATGCATTTGCTCCCATCATCCTTGCAGCAGTCCTGTGCGGTGGGCACTATCATAAGATCCATTGCACAGATGAAGAAACTGAGGTCTAGAGGGACCCAAGGTTACAGAGCCAATAAGTAGAGGAGCCAGGCTTTGACCTCAGGCATTCTGGCTTCAGGCTAATTGGCAGAGCGAGGATTTGAACCCAAACCCATGTGGGGAGAGTTGACCACTGTATTAGTCTGTTTTCACACTGCTGATAAAGACATTCCTGAGACTGGGTAATTCATAAAGAAAGAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATAGTGGAAGGCAAAAGGCATGTCTTACATGGTGGCAGGCAAGAGAGAATGAGAGCCAAGTGAAAGGAGAAACCGCTTATAAAAACATCAGATCTCATGAGACTTCTTCACTACCATGAGAACAGTATGGAGGAAACCGCTCCATGATTCAATTATCTCCCACTGTGTACCTCCCACAACACATGGGAATTATGGGAGCTATAATTCAAAATGAGGTTTGGCGGGGGACAGAGCCAAACCATATTAGCCACAGGAAAGCTGTTGAGCCTTGCAGTGCCTCTGAGGATCCCTGGCTGTGGGGTGGGCCCGGGTTCTAGTCCAAGGGCTCCTGCGTGCAACTCTGCCCAGCTTCCGTGGAGGGTTATTCTTGTGTTTAAGATATGTGTGTGTGATTCTGATGGCACCTTCCTGCCTCGGGCCAGCTGTGTGCTGACGGGCACTGCCGCTGCCTAGGTGTTGGTTCCGGTGAGCCCAGCAACTTTGTGACTGATCCTTGTCCTCCTCTGTTCCAGGGTACTGCCAGGGGGATGGTTACCGCATCGGCTTTGGCCAGTGTGCTGGAAAAGTGCTGCCTGCTCTCCTGCCATCATGAGATTTTCTCTGCTCTTCTGGAAACAAAGGGCTCAAGCACCCCTTTCAACCCTGTGACTGGGGTCCTCCCTCGGGCTGTAGGCCTGGTCCGCCATTCAGTGACAAATAAAGCCATTGTGCTCTGAGGCCTGCACTGCCGCAGATGCAGCTGTGTCCACTTATGATCGTGATTTGATCCAGTGGGTCAAGGTGTGTAAAGCCTCCCTGCCAGATATTCATTAATATGTTTTCTCACTCTTATTAGTGAGGTCAGGGGTCTTTGTGGGATTTTCTTATTAGACATCCCAGGCCTCCTGGTATTCCATGGAATTTGAAAAGAGACTGGCACCTGTAGTAGTCAGGGCTCTCCAGAGAAATAGAACCAAGGAGAAAGAGATCGATTTATTGATTGATTGATTGATTTTAAGCAAATTGGCTTCTGGGATTCTGGAGGGTGGCAAGCCCAAAACCTGCTGGGTGGGTTGCTGGCTGGAGACCCAAGGAAGAGCTGCAGTTTGAGTCTGAAGCAGTCTGCTGTCAAAATTTCCTCTTCCTCTGGGAAGTGAGTCATTGTTTGGTGAAGGCCATCAACTGATTAGATGAGGCCCAGCCACACTGTGGGGGTCTTCTGCTTTACTCCACTGATTTAAGTTTTATTTCACCTAAAAAGTACTTTCTTAGAAACATGTAGAATAGCATTTGAGCAAATATTTGGGTACCTTAGTCTAGCCAAATTAATACAGAAAACTGCCCATCACAGCACCCTGCATGTCCAGTGTTTCTTGGGGCTAACGGATGAGCACATATGGGTTGTAGGCTTGGTTCATGGGCCCCGTGGCTGCGTCTCCACACTGTAAGCCTTGGGAAGAGCCTCCGAGTCATGGGTGAGCACCTGAACTGTGATGATGGCAGAAAAGGACCTAGCTTTTCACCTCTTGCAAGCCCACCAGAGTCAGGAGAGTGAGCTCTGCCCCATCTCTTCTGTCCCAACCCATTGCACACAGGCAGCCCTGGTTCTACCCTAGTTCCTTGGTGATGACAGCAGGGGAGTATGCCCTGCGACCTTTCCTGGGCCTGATGAGCCTTATACCGGGGCCTAGGGGGATAGTTGAGGATGCAGAGCCCATCCGTCAGATCGCACCATTCATTCATTCACTCAACAAATCTTTATTGAGCACCTTCTGTGTGTTAAGCACTGTTCTAAGGATGAGAGGCACAGCAGTAAACAGAATAGCCCATTTGAAGCTTACATTCGAGTGGAAAGAGATAGACAATAAACAGATAAGGAAAAGACATGTGGTATGACAGATGGTAATAAGTTTTATGGACAATTGGGAGATGTGGATGCTATTGTTAATGTGGTTAGAGAAGGCCTTAATCCCATAGTACATTTCTGCTAGAGAGCTGAAGGAGTGAGGGGAGCAGGCCAGATGGATATCTGGGGACAGAGTCCTCCAGGCACAGGAATCAGCCCGTGCAAAGCCCTGAGGATGGAATATGCTTATCATTTCTAAAGAACATCAAGGAGGCTGGTATTTCTTCCTTACATAAAAGCAACCTGGGGTCAGGAAGGCTGGAGTTAGTGTGGCAGCTGCACAGTGTCATTAAAGATACCTCTGCTCTGCCATCGTCGGTATGTGGTTTTTAGTCTCAGGGTTACATTATGATACAAAATGGCTGCTGGAGCTCCAACTAGTACATCTAAGTTCCAGGCCAGCAGAAAGAGACAACAAAGAGGTGAGGACTGGGAGGATGGAAGGGCAGAAGAGCCCTCCTTCCTCCTGAGTTAGGTCATTTTAAGCAGCTTTCCTGGTAGTCCCATACCACACATGTCTTAGATTTCATTGATGAGACACACCTCATTACAAGAAAGCCTGGAAATGTAGTCTTTCATCTAAACACATTGCTTGCCCTGTGAAAATTAGTTTGATTGCCCTAAAAGAAGGGGAGAATGGATACTGGGGGACAATTAGTAGTCTCTGCTACACACAGGCTGGGAAATATCATGCTCTGAGGCTGAACTGCTCCCCGTGGACTTTACTTC
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GGATGTGTTCTCGCAGGCATTTGCACGGATGGCTCTGCACTGCTGGACACATGCATTTCTCACTCTCCTTCAGATCTTTGATTTGTTGATAGTTATGATTTGTTGTGGATTCTTTCTTGGTATCTGACATTATTTGGAAACAATATCTGAGCAAAAGTCTTTCGTTTCTTGCCCTGCGTCTCTCAGTGGTGGCGTCTTTCACCTGGTGTTCCTGTGTCTCTGTTTATTCCAGTTTCTCTCCCCAGCATTATTGCTTGCCTTGCCTGGCACAGAATTCCTGCGCAAGGCTGACCAGGGGTCCCAGGGTGTAGAAGCAGTGACCCTTCTCCTTCAGGACCATGGTTGGGAGAGACTCTTTAAAAATGCTGCAGTTCCGAGTTAGTTGTTTTGATAGATGTTTAATAAATTTCTGCTGGGAGCCAGTTTTACTTTAATAGGCTTTTTTTTTCACCCCAGTGGTGTGGATATTTCTGAGCATTGAGGTGGAAAAGAGACTGACAGAAAATAATGAAAATGAGCAACAGAATAGGTGAGGTCGTTGCTCTCGACAAAGGGCATCCCTGCATGTTGTCAGCATGTGGGTCACGGGGCTTCTTAGGGCCCCCCAAAGGACAGCCTCACTGAACAGATGTGACAAATGCATCTCGTGCCTGAGTGTCTGAGCCTTTGCACGTGTTCTTCCCTCTGTCTGGAATGGCATTTTCATGTGTCTTCCCTAATGAACTCCTAGCTACCCGTCAAGGCCCAGCTAAGATATCCCCCCTTCCTGCTCCCTTTCCCTCCATGCTGCTCGCTCAGCACCTTGTAAGCATTTCTCTGTATCTCTCGTCTGGACCTCCCACTCCCTCTAAGTGGACCCCTCTCAAGGGCAGAGATGGGCTTCTCTCTGCTTTTCCATCATCCTTGTTGAAATGGAATTAAATGAAGGAAACTAATATTTATTAGTTTCTGAGATGTGCTGGGAATTTCACTGAAATATTTAGTCTAATCCTTACAACCTTGAGAGATAAGCGTTGTTTTTCTTGTTTGCAGATGAGGGAGGTGAGTTCTGAAGTCAAACAGCTTGTTCCCAGCCACCCAGCTCATAATGGTTGTAATGACTGACACTTACAGGGAATTTCAAATAGGGACTGGAGGCTGTTCTCAGAGTTTTCTATGCATTTGCTCCCATCATCCTTGCAGCAGTCCTGTGCGGTGGGCACTATCATAAGATCCATTGCACAGATGAAGAAACTGAGGTCTAGAGGGACCCAAGGTTACAGAGCCAATAAGTAGAGGAGCCAGGCTTTGACCTCAGGCATTCTGGCTTCAGGCTAATTGGCAGAGCGAGGATTTGAACCCAAACCCATGTGGGGAGAGTTGACCACTGTATTAGTCTGTTTTCACACTGCTGATAAAGACATTCCTGAGACTGGGTAATTCATAAAGAAAGAGAGGTTTAATGGACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATAGTGGAAGGCAAAAGGCATGTCTTACATGGTGGCAGGCAAGAGAGAATGAGAGCCAAGTGAAAGGAGAAACCGCTTATAAAAACATCAGATCTCATGAGACTTCTTCACTACCATGAGAACAGTATGGAGGAAACCGCTCCATGATTCAATTATCTCCCACTGTGTACCTCCCACAACACATGGGAATTATGGGAGCTATAATTCAAAATGAGGTTTGGCGGGGGACAGAGCCAAACCATATTAGCCACAGGAAAGCTGTTGAGCCTTGCAGTGCCTCTGAGGATCCCTGGCTGTGGGGTGGGCCCGGGTTCTAGTCCAAGGGCTCCTGCGTGCAACTCTGCCCAGCTTCCGTGGAGGGTTATTCTTGTGTTTAAGATATGTGTGTGTGATTCTGATGGCACCTTCCTGCCTCGGGCCAGCTGTGTGCTGACGGGCACTGCCGCTGCCTAGGTGTTGGTTCCGGTGAGCCCAGCAACTTTGTGACTGATCCTTGTCCTCCTCTGTTCCAGGGTACTGCCAGGGGGATGGTTACCGCATCGGCTTTGGCCAGTGTGCTGGAAAAGAGCTGCCTGCTCTCCTGCCATCATGAGATTTTCTCTGCTCTTCTGGAAACAAAGGGCTCAAGCACCCCTTTCAACCCTGTGACTGGGGTCCTCCCTCGGGCTGTAGGCCTGGTCCGCCATTCAGTGACAAATAAAGCCATTGTGCTCTGAGGCCTGCACTGCCGCAGATGCAGCTGTGTCCACTTATGATCGTGATTTGATCCAGTGGGTCAAGGTGTGTAAAGCCTCCCTGCCAGATATTCATTAATATGTTTTCTCACTCTTATTAGTGAGGTCAGGGGTCTTTGTGGGATTTTCTTATTAGACATCCCAGGCCTCCTGGTATTCCATGGAATTTGAAAAGAGACTGGCACCTGTAGTAGTCAGGGCTCTCCAGAGAAATAGAACCAAGGAGAAAGAGATCGATTTATTGATTGATTGATTGATTTTAAGCAAATTGGCTTCTGGGATTCTGGAGGGTGGCAAGCCCAAAACCTGCTGGGTGGGTTGCTGGCTGGAGACCCAAGGAAGAGCTGCAGTTTGAGTCTGAAGCAGTCTGCTGTCAAAATTTCCTCTTCCTCTGGGAAGTGAGTCATTGTTTGGTGAAGGCCATCAACTGATTAGATGAGGCCCAGCCACACTGTGGGGGTCTTCTGCTTTACTCCACTGATTTAAGTTTTATTTCACCTAAAAAGTACTTTCTTAGAAACATGTAGAATAGCATTTGAGCAAATATTTGGGTACCTTAGTCTAGCCAAATTAATACAGAAAACTGCCCATCACAGCACCCTGCATGTCCAGTGTTTCTTGGGGCTAACGGATGAGCACATATGGGTTGTAGGCTTGGTTCATGGGCCCCGTGGCTGCGTCTCCACACTGTAAGCCTTGGGAAGAGCCTCCGAGTCATGGGTGAGCACCTGAACTGTGATGATGGCAGAAAAGGACCTAGCTTTTCACCTCTTGCAAGCCCACCAGAGTCAGGAGAGTGAGCTCTGCCCCATCTCTTCTGTCCCAACCCATTGCACACAGGCAGCCCTGGTTCTACCCTAGTTCCTTGGTGATGACAGCAGGGGAGTATGCCCTGCGACCTTTCCTGGGCCTGATGAGCCTTATACCGGGGCCTAGGGGGATAGTTGAGGATGCAGAGCCCATCCGTCAGATCGCACCATTCATTCATTCACTCAACAAATCTTTATTGAGCACCTTCTGTGTGTTAAGCACTGTTCTAAGGATGAGAGGCACAGCAGTAAACAGAATAGCCCATTTGAAGCTTACATTCGAGTGGAAAGAGATAGACAATAAACAGATAAGGAAAAGACATGTGGTATGACAGATGGTAATAAGTTTTATGGACAATTGGGAGATGTGGATGCTATTGTTAATGTGGTTAGAGAAGGCCTTAATCCCATAGTACATTTCTGCTAGAGAGCTGAAGGAGTGAGGGGAGCAGGCCAGATGGATATCTGGGGACAGAGTCCTCCAGGCACAGGAATCAGCCCGTGCAAAGCCCTGAGGATGGAATATGCTTATCATTTCTAAAGAACATCAAGGAGGCTGGTATTTCTTCCTTACATAAAAGCAACCTGGGGTCAGGAAGGCTGGAGTTAGTGTGGCAGCTGCACAGTGTCATTAAAGATACCTCTGCTCTGCCATCGTCGGTATGTGGTTTTTAGTCTCAGGGTTACATTATGATACAAAATGGCTGCTGGAGCTCCAACTAGTACATCTAAGTTCCAGGCCAGCAGAAAGAGACAACAAAGAGGTGAGGACTGGGAGGATGGAAGGGCAGAAGAGCCCTCCTTCCTCCTGAGTTAGGTCATTTTAAGCAGCTTTCCTGGTAGTCCCATACCACACATGTCTTAGATTTCATTGATGAGACACACCTCATTACAAGAAAGCCTGGAAATGTAGTCTTTCATCTAAACACATTGCTTGCCCTGTGAAAATTAGTTTGATTGCCCTAAAAGAAGGGGAGAATGGATACTGGGGGACAATTAGTAGTCTCTGCTACACACAGGCTGGGAAATATCATGCTCTGAGGCTGAACTGCTCCCCGTGGACTTTACTTC
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Task1_train_21776
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Consider a variant on Chromosome 15 in gene EFL1 (elongation factor like GTPase 1). Determine its clinical classification and disease relevance.
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Pathogenic; Shwachman syndrome
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TCTGGGAAAAGGCATTATGTTGGTGTTGCCTATGCCTGTCCCCTGAGCAGAAGGATAGCTGCCTCTGGACCTCAATACAAATAATTCTCCAGGAGTGAGAGCCGTGGTTTTGTGGCTTCCTCAACCTAGCCTTCCTCACTGTCTCTGAAGCCTATCTATAAATGAGTGTACAAAGCCAGCCCCTCTGTAAGAACAGGAACACTCTCACTTCTACTTGTGGACTGACAACATTTTGCTTGGCTTCTACTGAATTCAACAAACAGAGGCTAGGGTTTGGACATGGCATTGGGCACAGTACAAACGTAGTCTTACTATGCTGTCACAGAAGGGGACAGGGTTTCAATGACTGAGGTCTCGTCATGAATTACACAATAAGGTAGATTATTTAGATGGTAGATTGGCTCTATCCCTTGGTCTGCCTCTTTGTGGCCACTTTCCTGCTCATTATTACCTCTCTCAAACATGGAGAAGGAAGACAGACAATCTATCAACTCGACATGTCACTTCCCCCACACTGGCACATCTGTCAGGGCCCAACAGACTGCAGAAAGTGCAACTTTTTCTCCAACTTTTTCTGGGTTATGCCTCTTTTCTCTATTAAATGCAAAATGTGCTGATCTAAGTATACATTTTATAGCACATCTGGCAGTTTGAATGATGTTATTTACAAATGCTATAAATCGAAGTGCTAGTTTTTCCTATGTTATCAAAGTTTTCAAATAAACCAATAGATGATATAACTCTCCTAAACTAACTCATATATTATTATCTGTTGAAATTAAACAGACAGTGAATTATCCAGTCACATTTTCCCCAAAGTCTAGGCCAATTAGATTTGACCAGCTATGCCAGGGCCCTGAAGATTTAGAGATAAAATGTCTACAACTAGTATTAAAAATGACCTAGTTTATTAAGAAAACCCATTAAAGTATTTCAAAAACAAAGTCTGGTCTGATAATTTTATGCTATGAAAAGGAATCCTTCTTTTAAGTGGCTATAAAAATTATTATGCAACATCAAAAAATATAAAATCTATTTTTGTCTGAACTGCATTTGCTCCTTAAATGAAGATCACCCTGAAGGAGGCAACTGAGATTTAGAAAAAATATTTACAATAAAGCCATAACCTCATGCACATTAGCTAAGTAAGGCTAAAAGGAAATAGCAAATAAAATTATAGAAATTTACCTTTTTTTAAAAAAAAAGAAAAAGGTACAGGGATAACACCCATTAACACTGATTTAAATAGGAATGATAAAATTTATGAGTGGGTGTAAAAGCAGAAGATTTACAGGCTAACTATTGAACATGATACTGTTTTGCTAGACAACACCATAAGATGGATGAGCTGTAACAGTGACTTGGTTTAACTAAAAAGCAGCTGCTCTCTCAAGTATGCGGTCTCTCCAAACAATGTTAAATGCTCTGATTCACTGATTAAATATGAAATGTTTCCACTCCGAAATTCACACATGATGTTTATGTGGAGGATGTACTCAGAATTATGACACTGTGATGACAGGCAGAGACAGTGTGAGCCCCGGAGTGGCCGCTCAGTGCAGAGGAGACTGCCCACTGTGGGTCTGCACATCACCTCCCCACCACCAAGAGGGTAGCCCTGACCACACGTCTTACTGCTGGGGGTTATACACAGGGCAGTCATAAATCATCACTGCAATATTTATAACTTCTTGCCTTGAACCAGAACCAATTAAAAACACACTTGGAAAACATGTTCTCTAACATCCTCTTTAAAATATTTATATGGATCAACTTTATTGAAAGTGAATAAACAGAGATAATGTGGCAAAAAGAAATTTTCCCAATATTAAACCCTTGATGATACTTTTAAATTCACTATAAGGAAAAGAATCCACCAGTAGTAGGTAGCTACTTATTTTTGCTGAGTGTCCTCTGCTTTTCTGCATGCTCCACAATCTTTTCTTCCACATAAAGCCCCTTCCGCTTTCGTACTGCGTTCATGTACTTCCGGGCTTGGTTCTCAGAGTCAGCCTTCTCCCCAAAGTGCAAGTATTCCTCCTCAGTAGTTGGCACCCAGAAGGGGTCACTGGGAATGATCTTGTAAAAGAAGATGACAGAATGTGCAAGGTTAGGCATTTTTAATTTCAAACCTTATTCACTGAGCTCCCCAATTTATATAGTCTTAGCTAATGAAAAAAAGTTAGGCAATGAACAGCTAAGCTTGCTAGGAATGGTAATAAGTATGAAGAATCGGCAGGGTGTGGTGGCTCACGCCTATAGTCCTAGCACTTTGGGAGCCAAGGCAGGTGGATTGCCTGAGCTCAGAAGTTCGAGACCGGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAATACAACAACAACAACAACAACAAAAATTAGCTGGGTGGGGCGGCATGTGCCTGTAGTCCCTGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGGCTCCAACTTAAAAAGAAAAAAAAAAGTATGAAGAATCATGGGAGGTGTGAACAAATGGAAGTAGATTCAACAAAACTTGTAACATACATTATTATTCTTTGCTCCTAGCGCCAGTTCATAACACTAAGGAAGAAAGAAAACTATTAATTTTTCATAATATAATTTTTAAAAGCTTTCATTTTTGCTAGGATATATCTGAATGTTAATGTCTTTGCCATCAATATTTTGCCTTTGTCCTCAACCTCAACAAAGATCAACACATGTAACTACACTCTTATTATTATTACATATATTTTTTTATTTAAGAGACAGAGTTCTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGTGCAATCATACTCACTGTAGCCTCAATCTCCTGGGCTCAAGTGATCCTCCTCCCTTGACCTCCCAAGCAGCTAGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTTTAATTTTTTTTCTGGAGGTGGTGGGTGCATGACATTGTGAATGGGAAAAATGCAGCAAAATGTTTATTTAAAATGTTCAAGTTTGGGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCTTGATGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAGAAAAAAAAAAGTTCAATTTTATGTTGTATGAATTTCACCTCAGTACATTATTTTTAAAAAGAGAGACTTAAAGAAATTTCCCTGAATACAGAATACGGCACAGAGAGATGGAGATTAAAAAAAAAGTCTCAAAGGAAAGTCAAGAGCCATCAAGTATGTATAGGGTATATCTAACAGGAGTTCTAAAACCAAAAAACAGAGAACAGGATGAGAGTCTTCAGATGGAAAAACCTCACTGAGTCTGGACCAAGATAATAAAATAATCCACCCCTTGTGACAGTGTTGAAATGCTGGAAATCTGTGGGCACCTGCATCTCCTGAGGCTCGATTCTGACCCACTAGACACTATAGAATGGGAGGTGTGAGCCACAACTGTGCTTCTTGCTCTTGAACAAAGGTTGGAAACAAAGCAGCTGCCTGTGTCCTGGTGCTGAGGCAGGTACAGAGAAAATCAGAGAGAAAAGCCAGATCTAGAGAAGAACATGAATCAGACCAACGAGACGCTTCGCATCAGCAACAGCAGTTGCTGGGACACAATGAAGTCCTTCAGAGTGCTAAGGAGCCTCAGTGTGAGCCTACACGTCTTTATCTAGTTAAATAAACCATTATCAGCGAACCAAAAAAAGCCTCTGTTGGACAGACTTTAAAACATATTACCTCTCATGGACACTCAACAAAAGAACTAGAAATATCCTTTCAAAAAAGAGTCCCCGGAAGGAAAAGGCAGACAGTAGAAGTGAGAGCAGCCAGGGGGCACAGAGGCATTATCAGCACTAGAGTA
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TCTGGGAAAAGGCATTATGTTGGTGTTGCCTATGCCTGTCCCCTGAGCAGAAGGATAGCTGCCTCTGGACCTCAATACAAATAATTCTCCAGGAGTGAGAGCCGTGGTTTTGTGGCTTCCTCAACCTAGCCTTCCTCACTGTCTCTGAAGCCTATCTATAAATGAGTGTACAAAGCCAGCCCCTCTGTAAGAACAGGAACACTCTCACTTCTACTTGTGGACTGACAACATTTTGCTTGGCTTCTACTGAATTCAACAAACAGAGGCTAGGGTTTGGACATGGCATTGGGCACAGTACAAACGTAGTCTTACTATGCTGTCACAGAAGGGGACAGGGTTTCAATGACTGAGGTCTCGTCATGAATTACACAATAAGGTAGATTATTTAGATGGTAGATTGGCTCTATCCCTTGGTCTGCCTCTTTGTGGCCACTTTCCTGCTCATTATTACCTCTCTCAAACATGGAGAAGGAAGACAGACAATCTATCAACTCGACATGTCACTTCCCCCACACTGGCACATCTGTCAGGGCCCAACAGACTGCAGAAAGTGCAACTTTTTCTCCAACTTTTTCTGGGTTATGCCTCTTTTCTCTATTAAATGCAAAATGTGCTGATCTAAGTATACATTTTATAGCACATCTGGCAGTTTGAATGATGTTATTTACAAATGCTATAAATCGAAGTGCTAGTTTTTCCTATGTTATCAAAGTTTTCAAATAAACCAATAGATGATATAACTCTCCTAAACTAACTCATATATTATTATCTGTTGAAATTAAACAGACAGTGAATTATCCAGTCACATTTTCCCCAAAGTCTAGGCCAATTAGATTTGACCAGCTATGCCAGGGCCCTGAAGATTTAGAGATAAAATGTCTACAACTAGTATTAAAAATGACCTAGTTTATTAAGAAAACCCATTAAAGTATTTCAAAAACAAAGTCTGGTCTGATAATTTTATGCTATGAAAAGGAATCCTTCTTTTAAGTGGCTATAAAAATTATTATGCAACATCAAAAAATATAAAATCTATTTTTGTCTGAACTGCATTTGCTCCTTAAATGAAGATCACCCTGAAGGAGGCAACTGAGATTTAGAAAAAATATTTACAATAAAGCCATAACCTCATGCACATTAGCTAAGTAAGGCTAAAAGGAAATAGCAAATAAAATTATAGAAATTTACCTTTTTTTAAAAAAAAAGAAAAAGGTACAGGGATAACACCCATTAACACTGATTTAAATAGGAATGATAAAATTTATGAGTGGGTGTAAAAGCAGAAGATTTACAGGCTAACTATTGAACATGATACTGTTTTGCTAGACAACACCATAAGATGGATGAGCTGTAACAGTGACTTGGTTTAACTAAAAAGCAGCTGCTCTCTCAAGTATGCGGTCTCTCCAAACAATGTTAAATGCTCTGATTCACTGATTAAATATGAAATGTTTCCACTCCGAAATTCACACATGATGTTTATGTGGAGGATGTACTCAGAATTATGACACTGTGATGACAGGCAGAGACAGTGTGAGCCCCGGAGTGGCCGCTCAGTGCAGAGGAGACTGCCCACTGTGGGTCTGCACATCACCTCCCCACCACCAAGAGGGTAGCCCTGACCACACGTCTTACTGCTGGGGGTTATACACAGGGCAGTCATAAATCATCACTGCAATATTTATAACTTCTTGCCTTGAACCAGAACCAATTAAAAACACACTTGGAAAACATGTTCTCTAACATCCTCTTTAAAATATTTATATGGATCAACTTTATTGAAAGTGAATAAACAGAGATAATGTGGCAAAAAGAAATTTTCCCAATATTAAACCCTTGATGATACTTTTAAATTCACTATAAGGAAAAGAATCCACCAGTAGTAGGTAGCTACTTATTTTTGCTGAGTGTCCTCTGCTTTTCTGCATGCTCCACAATCTTTTCTTCCACATAAAGCCCCTTCCGCTTTCGTACTGCGTTCATGTACTTCCGGGCTTGGTTCTCAGAGTCAGCCTTCTCCCCAAAGTGCAAGTATTCCTCCTCAGTAGCTGGCACCCAGAAGGGGTCACTGGGAATGATCTTGTAAAAGAAGATGACAGAATGTGCAAGGTTAGGCATTTTTAATTTCAAACCTTATTCACTGAGCTCCCCAATTTATATAGTCTTAGCTAATGAAAAAAAGTTAGGCAATGAACAGCTAAGCTTGCTAGGAATGGTAATAAGTATGAAGAATCGGCAGGGTGTGGTGGCTCACGCCTATAGTCCTAGCACTTTGGGAGCCAAGGCAGGTGGATTGCCTGAGCTCAGAAGTTCGAGACCGGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAATACAACAACAACAACAACAACAAAAATTAGCTGGGTGGGGCGGCATGTGCCTGTAGTCCCTGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGGCTCCAACTTAAAAAGAAAAAAAAAAGTATGAAGAATCATGGGAGGTGTGAACAAATGGAAGTAGATTCAACAAAACTTGTAACATACATTATTATTCTTTGCTCCTAGCGCCAGTTCATAACACTAAGGAAGAAAGAAAACTATTAATTTTTCATAATATAATTTTTAAAAGCTTTCATTTTTGCTAGGATATATCTGAATGTTAATGTCTTTGCCATCAATATTTTGCCTTTGTCCTCAACCTCAACAAAGATCAACACATGTAACTACACTCTTATTATTATTACATATATTTTTTTATTTAAGAGACAGAGTTCTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGTGCAATCATACTCACTGTAGCCTCAATCTCCTGGGCTCAAGTGATCCTCCTCCCTTGACCTCCCAAGCAGCTAGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTTTAATTTTTTTTCTGGAGGTGGTGGGTGCATGACATTGTGAATGGGAAAAATGCAGCAAAATGTTTATTTAAAATGTTCAAGTTTGGGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCTTGATGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAGAAAAAAAAAAGTTCAATTTTATGTTGTATGAATTTCACCTCAGTACATTATTTTTAAAAAGAGAGACTTAAAGAAATTTCCCTGAATACAGAATACGGCACAGAGAGATGGAGATTAAAAAAAAAGTCTCAAAGGAAAGTCAAGAGCCATCAAGTATGTATAGGGTATATCTAACAGGAGTTCTAAAACCAAAAAACAGAGAACAGGATGAGAGTCTTCAGATGGAAAAACCTCACTGAGTCTGGACCAAGATAATAAAATAATCCACCCCTTGTGACAGTGTTGAAATGCTGGAAATCTGTGGGCACCTGCATCTCCTGAGGCTCGATTCTGACCCACTAGACACTATAGAATGGGAGGTGTGAGCCACAACTGTGCTTCTTGCTCTTGAACAAAGGTTGGAAACAAAGCAGCTGCCTGTGTCCTGGTGCTGAGGCAGGTACAGAGAAAATCAGAGAGAAAAGCCAGATCTAGAGAAGAACATGAATCAGACCAACGAGACGCTTCGCATCAGCAACAGCAGTTGCTGGGACACAATGAAGTCCTTCAGAGTGCTAAGGAGCCTCAGTGTGAGCCTACACGTCTTTATCTAGTTAAATAAACCATTATCAGCGAACCAAAAAAAGCCTCTGTTGGACAGACTTTAAAACATATTACCTCTCATGGACACTCAACAAAAGAACTAGAAATATCCTTTCAAAAAAGAGTCCCCGGAAGGAAAAGGCAGACAGTAGAAGTGAGAGCAGCCAGGGGGCACAGAGGCATTATCAGCACTAGAGTA
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Task1_train_21777
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A variant was discovered on Chromosome 15, affecting EFL1 (elongation factor like GTPase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Shwachman-Diamond syndrome 2
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AATGGTGGTACAGATGATTGGAAACTAGCAGGTGACAGACATTTTGCTCAATATAGAAAAAAACACCATTAAATCACGAAGCTGGCTGTGCACTGGCCATCAATAGAAGTATTCAAATAGTGGTGGTATAAGCATTTGTCGGGGTAGGAGAGGCTGGAGAAAAGCTCTTAGGTCTTCTTCAAAGATTTGAGGGATTAAGATTTGATTTTAACTCTTACTTCCGCCTTAAGAAAGTTCTCAATGAAAATGAAAAATAGCATCTGAGAATAGTCTAGATTGGTGTTTCCCAAACAAATCTACAAATTCCATGGCTGTTAATAGGCATGCTATATTCAAATAAGGTTGAAAAGCACTGTATATGACATGCTGTATTTGGAGATTTGATTCACAATGCATACTGGCCTTAACCCAGCTATTTTTCAAATGCTGCTAATGACGCTCAGTCTCACAAAAACCTTAATGTGATGGAAGCCTAAATTTCTTTTGGGAAAAAAAACAAACAAACTTAGATTTCTGCTTTCAGGAATTAATCAGCAAAAGAACCTTCCTAAAAAGAATGTAATTAACCACATATTGACTCAAAGGGCCTCAGGGTTAGAGGAAACTTAATAATTTGGCCGATTCTCTCATCCAGGGCTCAATCCTCCTTTATATTCTCTTCACTACTGAAACAGTTCCATGATCTTGAGAGAATAAGAGAACTACTGTGTGCCAGGTGCTGTTCTGGGCACTGTATTTAAAAAAATTGTGTTATTTTAATCTTCACAATCTGTATGAATTATTATCCCCTTTCTTTACCTATGTAAAGAAACTAAGTCTCAGTGAACTAATACCAGTGAAAAGTCCAAAGAGCTACTAAGTGCCAGGGCTTCATGTCTCCTGGGATCTTAAAGGTTGCTTCTCCCAAAGAGAGAAAAATCAGGAATAGGATTTGATATAATGGTTAGCAGTGAATAAAGCCCCAAATAATTTTCTTTCTCAGAAAGAACCCAGAATTCACAAAAGCCCTTTTGTGTTATGAGTACAAGAATGTTGCCTTATTCTTTGATCATTTTCAGAACAACTTTGGTTACCCAGACTGATATGGTTATTTGCTTGAGATAAAATATGGCACAGGTTTGGATGGTAACACATATGAGCAGTTTAAACCTCATTTAGCAGACCTCTCATTACGGAAAGGATTCTATTTGTTGCAAAAGAAAAGATCTTTAGTAGTCATGTTTTTCCCCTCTCAAGATTTTAATACTTAAGATATCTGGCTTTCAAAGATCTTAGTTTGTTAGTAAATCAGAAGATGGTACAGCTTCTGCAAAACATACTAAACGAGTTTAAGATTTTTGGGTCTGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAACTCAGGAGTTCGAGACCAACCTGGGCAACGTTGCGAAACTCAGTCTCTACAAAAAACACAAAAAAACTTAGCTGCACATGGTGGTGTGTGCCTGTAGTCACAACTACTTGAGAGGCTGAGGTGAGAGGATTGCTTGAGCCTGGTAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCTGGGGCGACAGAATGAGACCCTGTCTCAAAAACAAGATTTTGAGTCTAGGAGACTTCACTGTTATTCAGGGCATTTCTCACTATCTTTACCTTTTCTTCCTTACCGAGAACATCACCAGTGGCCATGATGTCACATGTGTACATAGCTGCCATCAGGCGCTGAGGTTTCACTTGCAGTGCATAGCGACATGCTTCTTTCATGGTGGCAATTAGCTGTCCTGAGAAAGGTCCATAGCAGTCAGTGAGTGGAGATTCTCCTTTCTGTGATGTCCTCTTCTCAAAGGCCTCAGAGCAGCCATCTTGTAGCTCTTGGTTTTCATTTCCACCAGAACAGGTTTCATTTTCCTCCTGTCCCTCTTTTGCCAGATCACTTGCTCCTTGTTCCTCAAATTTACTTAGGTCCCATTTTTCCAGAACAAAACAGACACCCATGAGAGGCTCCTCACACATGGGGCCAGAGAGGGTTGCTAGTTGGAAGCCACTCACAATGCTATTGCCCAAATCTCGGTATCTACTGGCTTCTTTTGAAGCTTTGTCAGCTGGACCTGTCCATACTGAGTTCTGAAAATCTTCACTTTTATTGACTAGTATGTTGGGCCCACATTTTCTTGGGCCAAATGACCAGATTTGGTCAACAATGTTCCTCCATCTTCTCCCTGTTAGGTGTTGCTCCAGTTTTCCTTTGAATTCCCAAATTTTCTCTTGGGTCTTCTGATGAATCATGTGAGTATTTTCACCCTCATTCAAAGAGGATGTCAACTGCTCCATAGAACGAATCAAATCACTATTTTCTTCCAGAATCTGGGTGACTTCTTCTGGAAGGGGCATGGCTCGAACACTGAGCGTGGCAAGTTTATTGGGAGTTGTTATGGTGATTAGCCCGTCAGAGTCAACTTGGATTCCTTCAGGGATTTTGCTTTGATCTTCTTTCATTTGGTGTATGACTGCAACTTTTTGCTGTTTGCCTATTTCTTCATTGACCATGTCAACTTTTGGGGGTTTTGTGATTGTTTCTCTGAATGGAATAATAGGTTCAGATACACTGATATGAATCTTTGCAAACCTACAGACAAATTCAAGAGAAATAACAGAAGGTTAAAATCAAAATAGCATCAAAGCTCCTGTGTAGAAATTACTACACAGTGGAGATTCTGTAAAAACATAGGAACATAAAAATTATCTTACTATGAAAGATCTGCAATTTACATTATATAACATTCAAAAACTGCTTTCTTTCTGATTGAAAAGACTACTTCTAATGGGAATATACCTCCAGGGAAATCCTTGCATGTACTGGAATTTCACTTTTTTTTTTTTCATTTTCAAGATATATAAACCACCCATTTAGATAAGAATGTTTTGAGCAGAAAATAAATGTTTTAATATATGAAATATGAATGCTTTAAAACAGTATTTGCCCATCTAAGAGTGTGGAGAAGAAAAGCTCAATGATTAAAACTCTAAATAGACATAGAATCACAGAACCTCAGGATAGCTAGTCAAATCTTCACAATGTATTTGGCTTTGATAATGAGGCTTATAGCAAGGCTAGCATGATCCATGAGTTTGTCTAGAGCAGCACTTTCCAAAAGAACTTTCTGCAATGGTGGAAATGTTCTATATGTTTATTGTGATTGCTGAGCCCTTGAAATGTGGCTAGTACAGCTGAATAAATTTTTAATTTTATTTAAATTTAAATAGACACATATAGCTACTAAGCATTTGAAATGCGGCTAGTATGACTGAGGAACTAAATTTTTAATTGTATTTGATTTTAAACAGCTGCATGTGGGTAGAAGCTACTCTTCTGGACATCATAGGTCTTGAGCCCCAGTCTGCCACCAAGTTCAGAAAGCCCCTTTTCCCACATAATATCAAATTTGATATTGTTGTATATTGTATATTTACAATCTTTTTGTATATTCACAGGATATACAACAAGATGGACCCGACATTGTATGTTTTTAAAACTACTTTGATATTCAAACCTGACAAAGACAGTATATATACACAAAACTGCAGTTCAATCTTACCTAAGAATTCAGATATAAAATCTAAGATAAAATAACAAAAACTATGGATATGCAGGTGTGTGCATTAAAAAAAAACTTATTATGTATGAGGCACTGTGTTAAGTGTTTTACATGTAGTATTTCTTTAGTAGGCACTAGTACTATCTAATTTTGTAGAAGAGAAAACCAGATAAGAAAGATTAAGTAATTTCTCCAAATAGTCTGTAAGTGAAGAAGCTAGGATTCAAATTTAGGTCTGACTTCAGAATTCACACTCTCAGTCATTATGCTATACTGAAAAATGAAGTTACTCAGTACATTAAAGGAATAATTTACTACAACACTACGAAGTTTGTATTATAGGTTATATGAAAATTAATTTGTATTAGATCTGTTAATACCACATTAAAAATATCAAATAATCTATGTAGCCACTTTTAAATATGCTAAATTGGCATTCAATAAGATTCAATACCTATTCT
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AATGGTGGTACAGATGATTGGAAACTAGCAGGTGACAGACATTTTGCTCAATATAGAAAAAAACACCATTAAATCACGAAGCTGGCTGTGCACTGGCCATCAATAGAAGTATTCAAATAGTGGTGGTATAAGCATTTGTCGGGGTAGGAGAGGCTGGAGAAAAGCTCTTAGGTCTTCTTCAAAGATTTGAGGGATTAAGATTTGATTTTAACTCTTACTTCCGCCTTAAGAAAGTTCTCAATGAAAATGAAAAATAGCATCTGAGAATAGTCTAGATTGGTGTTTCCCAAACAAATCTACAAATTCCATGGCTGTTAATAGGCATGCTATATTCAAATAAGGTTGAAAAGCACTGTATATGACATGCTGTATTTGGAGATTTGATTCACAATGCATACTGGCCTTAACCCAGCTATTTTTCAAATGCTGCTAATGACGCTCAGTCTCACAAAAACCTTAATGTGATGGAAGCCTAAATTTCTTTTGGGAAAAAAAACAAACAAACTTAGATTTCTGCTTTCAGGAATTAATCAGCAAAAGAACCTTCCTAAAAAGAATGTAATTAACCACATATTGACTCAAAGGGCCTCAGGGTTAGAGGAAACTTAATAATTTGGCCGATTCTCTCATCCAGGGCTCAATCCTCCTTTATATTCTCTTCACTACTGAAACAGTTCCATGATCTTGAGAGAATAAGAGAACTACTGTGTGCCAGGTGCTGTTCTGGGCACTGTATTTAAAAAAATTGTGTTATTTTAATCTTCACAATCTGTATGAATTATTATCCCCTTTCTTTACCTATGTAAAGAAACTAAGTCTCAGTGAACTAATACCAGTGAAAAGTCCAAAGAGCTACTAAGTGCCAGGGCTTCATGTCTCCTGGGATCTTAAAGGTTGCTTCTCCCAAAGAGAGAAAAATCAGGAATAGGATTTGATATAATGGTTAGCAGTGAATAAAGCCCCAAATAATTTTCTTTCTCAGAAAGAACCCAGAATTCACAAAAGCCCTTTTGTGTTATGAGTACAAGAATGTTGCCTTATTCTTTGATCATTTTCAGAACAACTTTGGTTACCCAGACTGATATGGTTATTTGCTTGAGATAAAATATGGCACAGGTTTGGATGGTAACACATATGAGCAGTTTAAACCTCATTTAGCAGACCTCTCATTACGGAAAGGATTCTATTTGTTGCAAAAGAAAAGATCTTTAGTAGTCATGTTTTTCCCCTCTCAAGATTTTAATACTTAAGATATCTGGCTTTCAAAGATCTTAGTTTGTTAGTAAATCAGAAGATGGTACAGCTTCTGCAAAACATACTAAACGAGTTTAAGATTTTTGGGTCTGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAACTCAGGAGTTCGAGACCAACCTGGGCAACGTTGCGAAACTCAGTCTCTACAAAAAACACAAAAAAACTTAGCTGCACATGGTGGTGTGTGCCTGTAGTCACAACTACTTGAGAGGCTGAGGTGAGAGGATTGCTTGAGCCTGGTAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCTGGGGCGACAGAATGAGACCCTGTCTCAAAAACAAGATTTTGAGTCTAGGAGACTTCACTGTTATTCAGGGCATTTCTCACTATCTTTACCTTTTCTTCCTTACCGAGAACATCACCAGTGGCCATGATGTCACATGTGTACATAGCTGCCATCAGGCGCTGAGGTTTCACTTGCAGTGCATAGCGACATGCTTCTTTCATGGTGGCAATTAGCTGTCCTGAGAAAGGTCCATAGCAGTCAGTGAGTGGAGATTCTCCTTTCTGTGATGTCCTCTTCTCAAAGGCCTCAGAGCAGCCATCTTGTAGCTCTTGGTTTTCATTTCCACCAGAACAGGTTTCATTTTCCTCCTGTCCCTCTTTTGCCAGATCACTTGCTCCTTGTTCCTCAAATTTACTTAGGTCCCATTTTTCCAGAACAAAACAGACACCCATGAGAGGCTCCTCACCCATGGGGCCAGAGAGGGTTGCTAGTTGGAAGCCACTCACAATGCTATTGCCCAAATCTCGGTATCTACTGGCTTCTTTTGAAGCTTTGTCAGCTGGACCTGTCCATACTGAGTTCTGAAAATCTTCACTTTTATTGACTAGTATGTTGGGCCCACATTTTCTTGGGCCAAATGACCAGATTTGGTCAACAATGTTCCTCCATCTTCTCCCTGTTAGGTGTTGCTCCAGTTTTCCTTTGAATTCCCAAATTTTCTCTTGGGTCTTCTGATGAATCATGTGAGTATTTTCACCCTCATTCAAAGAGGATGTCAACTGCTCCATAGAACGAATCAAATCACTATTTTCTTCCAGAATCTGGGTGACTTCTTCTGGAAGGGGCATGGCTCGAACACTGAGCGTGGCAAGTTTATTGGGAGTTGTTATGGTGATTAGCCCGTCAGAGTCAACTTGGATTCCTTCAGGGATTTTGCTTTGATCTTCTTTCATTTGGTGTATGACTGCAACTTTTTGCTGTTTGCCTATTTCTTCATTGACCATGTCAACTTTTGGGGGTTTTGTGATTGTTTCTCTGAATGGAATAATAGGTTCAGATACACTGATATGAATCTTTGCAAACCTACAGACAAATTCAAGAGAAATAACAGAAGGTTAAAATCAAAATAGCATCAAAGCTCCTGTGTAGAAATTACTACACAGTGGAGATTCTGTAAAAACATAGGAACATAAAAATTATCTTACTATGAAAGATCTGCAATTTACATTATATAACATTCAAAAACTGCTTTCTTTCTGATTGAAAAGACTACTTCTAATGGGAATATACCTCCAGGGAAATCCTTGCATGTACTGGAATTTCACTTTTTTTTTTTTCATTTTCAAGATATATAAACCACCCATTTAGATAAGAATGTTTTGAGCAGAAAATAAATGTTTTAATATATGAAATATGAATGCTTTAAAACAGTATTTGCCCATCTAAGAGTGTGGAGAAGAAAAGCTCAATGATTAAAACTCTAAATAGACATAGAATCACAGAACCTCAGGATAGCTAGTCAAATCTTCACAATGTATTTGGCTTTGATAATGAGGCTTATAGCAAGGCTAGCATGATCCATGAGTTTGTCTAGAGCAGCACTTTCCAAAAGAACTTTCTGCAATGGTGGAAATGTTCTATATGTTTATTGTGATTGCTGAGCCCTTGAAATGTGGCTAGTACAGCTGAATAAATTTTTAATTTTATTTAAATTTAAATAGACACATATAGCTACTAAGCATTTGAAATGCGGCTAGTATGACTGAGGAACTAAATTTTTAATTGTATTTGATTTTAAACAGCTGCATGTGGGTAGAAGCTACTCTTCTGGACATCATAGGTCTTGAGCCCCAGTCTGCCACCAAGTTCAGAAAGCCCCTTTTCCCACATAATATCAAATTTGATATTGTTGTATATTGTATATTTACAATCTTTTTGTATATTCACAGGATATACAACAAGATGGACCCGACATTGTATGTTTTTAAAACTACTTTGATATTCAAACCTGACAAAGACAGTATATATACACAAAACTGCAGTTCAATCTTACCTAAGAATTCAGATATAAAATCTAAGATAAAATAACAAAAACTATGGATATGCAGGTGTGTGCATTAAAAAAAAACTTATTATGTATGAGGCACTGTGTTAAGTGTTTTACATGTAGTATTTCTTTAGTAGGCACTAGTACTATCTAATTTTGTAGAAGAGAAAACCAGATAAGAAAGATTAAGTAATTTCTCCAAATAGTCTGTAAGTGAAGAAGCTAGGATTCAAATTTAGGTCTGACTTCAGAATTCACACTCTCAGTCATTATGCTATACTGAAAAATGAAGTTACTCAGTACATTAAAGGAATAATTTACTACAACACTACGAAGTTTGTATTATAGGTTATATGAAAATTAATTTGTATTAGATCTGTTAATACCACATTAAAAATATCAAATAATCTATGTAGCCACTTTTAAATATGCTAAATTGGCATTCAATAAGATTCAATACCTATTCT
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Task1_train_21778
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A mutation in EFL1 (elongation factor like GTPase 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Shwachman syndrome
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TGGTGGTACAGATGATTGGAAACTAGCAGGTGACAGACATTTTGCTCAATATAGAAAAAAACACCATTAAATCACGAAGCTGGCTGTGCACTGGCCATCAATAGAAGTATTCAAATAGTGGTGGTATAAGCATTTGTCGGGGTAGGAGAGGCTGGAGAAAAGCTCTTAGGTCTTCTTCAAAGATTTGAGGGATTAAGATTTGATTTTAACTCTTACTTCCGCCTTAAGAAAGTTCTCAATGAAAATGAAAAATAGCATCTGAGAATAGTCTAGATTGGTGTTTCCCAAACAAATCTACAAATTCCATGGCTGTTAATAGGCATGCTATATTCAAATAAGGTTGAAAAGCACTGTATATGACATGCTGTATTTGGAGATTTGATTCACAATGCATACTGGCCTTAACCCAGCTATTTTTCAAATGCTGCTAATGACGCTCAGTCTCACAAAAACCTTAATGTGATGGAAGCCTAAATTTCTTTTGGGAAAAAAAACAAACAAACTTAGATTTCTGCTTTCAGGAATTAATCAGCAAAAGAACCTTCCTAAAAAGAATGTAATTAACCACATATTGACTCAAAGGGCCTCAGGGTTAGAGGAAACTTAATAATTTGGCCGATTCTCTCATCCAGGGCTCAATCCTCCTTTATATTCTCTTCACTACTGAAACAGTTCCATGATCTTGAGAGAATAAGAGAACTACTGTGTGCCAGGTGCTGTTCTGGGCACTGTATTTAAAAAAATTGTGTTATTTTAATCTTCACAATCTGTATGAATTATTATCCCCTTTCTTTACCTATGTAAAGAAACTAAGTCTCAGTGAACTAATACCAGTGAAAAGTCCAAAGAGCTACTAAGTGCCAGGGCTTCATGTCTCCTGGGATCTTAAAGGTTGCTTCTCCCAAAGAGAGAAAAATCAGGAATAGGATTTGATATAATGGTTAGCAGTGAATAAAGCCCCAAATAATTTTCTTTCTCAGAAAGAACCCAGAATTCACAAAAGCCCTTTTGTGTTATGAGTACAAGAATGTTGCCTTATTCTTTGATCATTTTCAGAACAACTTTGGTTACCCAGACTGATATGGTTATTTGCTTGAGATAAAATATGGCACAGGTTTGGATGGTAACACATATGAGCAGTTTAAACCTCATTTAGCAGACCTCTCATTACGGAAAGGATTCTATTTGTTGCAAAAGAAAAGATCTTTAGTAGTCATGTTTTTCCCCTCTCAAGATTTTAATACTTAAGATATCTGGCTTTCAAAGATCTTAGTTTGTTAGTAAATCAGAAGATGGTACAGCTTCTGCAAAACATACTAAACGAGTTTAAGATTTTTGGGTCTGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAACTCAGGAGTTCGAGACCAACCTGGGCAACGTTGCGAAACTCAGTCTCTACAAAAAACACAAAAAAACTTAGCTGCACATGGTGGTGTGTGCCTGTAGTCACAACTACTTGAGAGGCTGAGGTGAGAGGATTGCTTGAGCCTGGTAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCTGGGGCGACAGAATGAGACCCTGTCTCAAAAACAAGATTTTGAGTCTAGGAGACTTCACTGTTATTCAGGGCATTTCTCACTATCTTTACCTTTTCTTCCTTACCGAGAACATCACCAGTGGCCATGATGTCACATGTGTACATAGCTGCCATCAGGCGCTGAGGTTTCACTTGCAGTGCATAGCGACATGCTTCTTTCATGGTGGCAATTAGCTGTCCTGAGAAAGGTCCATAGCAGTCAGTGAGTGGAGATTCTCCTTTCTGTGATGTCCTCTTCTCAAAGGCCTCAGAGCAGCCATCTTGTAGCTCTTGGTTTTCATTTCCACCAGAACAGGTTTCATTTTCCTCCTGTCCCTCTTTTGCCAGATCACTTGCTCCTTGTTCCTCAAATTTACTTAGGTCCCATTTTTCCAGAACAAAACAGACACCCATGAGAGGCTCCTCACACATGGGGCCAGAGAGGGTTGCTAGTTGGAAGCCACTCACAATGCTATTGCCCAAATCTCGGTATCTACTGGCTTCTTTTGAAGCTTTGTCAGCTGGACCTGTCCATACTGAGTTCTGAAAATCTTCACTTTTATTGACTAGTATGTTGGGCCCACATTTTCTTGGGCCAAATGACCAGATTTGGTCAACAATGTTCCTCCATCTTCTCCCTGTTAGGTGTTGCTCCAGTTTTCCTTTGAATTCCCAAATTTTCTCTTGGGTCTTCTGATGAATCATGTGAGTATTTTCACCCTCATTCAAAGAGGATGTCAACTGCTCCATAGAACGAATCAAATCACTATTTTCTTCCAGAATCTGGGTGACTTCTTCTGGAAGGGGCATGGCTCGAACACTGAGCGTGGCAAGTTTATTGGGAGTTGTTATGGTGATTAGCCCGTCAGAGTCAACTTGGATTCCTTCAGGGATTTTGCTTTGATCTTCTTTCATTTGGTGTATGACTGCAACTTTTTGCTGTTTGCCTATTTCTTCATTGACCATGTCAACTTTTGGGGGTTTTGTGATTGTTTCTCTGAATGGAATAATAGGTTCAGATACACTGATATGAATCTTTGCAAACCTACAGACAAATTCAAGAGAAATAACAGAAGGTTAAAATCAAAATAGCATCAAAGCTCCTGTGTAGAAATTACTACACAGTGGAGATTCTGTAAAAACATAGGAACATAAAAATTATCTTACTATGAAAGATCTGCAATTTACATTATATAACATTCAAAAACTGCTTTCTTTCTGATTGAAAAGACTACTTCTAATGGGAATATACCTCCAGGGAAATCCTTGCATGTACTGGAATTTCACTTTTTTTTTTTTCATTTTCAAGATATATAAACCACCCATTTAGATAAGAATGTTTTGAGCAGAAAATAAATGTTTTAATATATGAAATATGAATGCTTTAAAACAGTATTTGCCCATCTAAGAGTGTGGAGAAGAAAAGCTCAATGATTAAAACTCTAAATAGACATAGAATCACAGAACCTCAGGATAGCTAGTCAAATCTTCACAATGTATTTGGCTTTGATAATGAGGCTTATAGCAAGGCTAGCATGATCCATGAGTTTGTCTAGAGCAGCACTTTCCAAAAGAACTTTCTGCAATGGTGGAAATGTTCTATATGTTTATTGTGATTGCTGAGCCCTTGAAATGTGGCTAGTACAGCTGAATAAATTTTTAATTTTATTTAAATTTAAATAGACACATATAGCTACTAAGCATTTGAAATGCGGCTAGTATGACTGAGGAACTAAATTTTTAATTGTATTTGATTTTAAACAGCTGCATGTGGGTAGAAGCTACTCTTCTGGACATCATAGGTCTTGAGCCCCAGTCTGCCACCAAGTTCAGAAAGCCCCTTTTCCCACATAATATCAAATTTGATATTGTTGTATATTGTATATTTACAATCTTTTTGTATATTCACAGGATATACAACAAGATGGACCCGACATTGTATGTTTTTAAAACTACTTTGATATTCAAACCTGACAAAGACAGTATATATACACAAAACTGCAGTTCAATCTTACCTAAGAATTCAGATATAAAATCTAAGATAAAATAACAAAAACTATGGATATGCAGGTGTGTGCATTAAAAAAAAACTTATTATGTATGAGGCACTGTGTTAAGTGTTTTACATGTAGTATTTCTTTAGTAGGCACTAGTACTATCTAATTTTGTAGAAGAGAAAACCAGATAAGAAAGATTAAGTAATTTCTCCAAATAGTCTGTAAGTGAAGAAGCTAGGATTCAAATTTAGGTCTGACTTCAGAATTCACACTCTCAGTCATTATGCTATACTGAAAAATGAAGTTACTCAGTACATTAAAGGAATAATTTACTACAACACTACGAAGTTTGTATTATAGGTTATATGAAAATTAATTTGTATTAGATCTGTTAATACCACATTAAAAATATCAAATAATCTATGTAGCCACTTTTAAATATGCTAAATTGGCATTCAATAAGATTCAATACCTATTCTTG
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TGGTGGTACAGATGATTGGAAACTAGCAGGTGACAGACATTTTGCTCAATATAGAAAAAAACACCATTAAATCACGAAGCTGGCTGTGCACTGGCCATCAATAGAAGTATTCAAATAGTGGTGGTATAAGCATTTGTCGGGGTAGGAGAGGCTGGAGAAAAGCTCTTAGGTCTTCTTCAAAGATTTGAGGGATTAAGATTTGATTTTAACTCTTACTTCCGCCTTAAGAAAGTTCTCAATGAAAATGAAAAATAGCATCTGAGAATAGTCTAGATTGGTGTTTCCCAAACAAATCTACAAATTCCATGGCTGTTAATAGGCATGCTATATTCAAATAAGGTTGAAAAGCACTGTATATGACATGCTGTATTTGGAGATTTGATTCACAATGCATACTGGCCTTAACCCAGCTATTTTTCAAATGCTGCTAATGACGCTCAGTCTCACAAAAACCTTAATGTGATGGAAGCCTAAATTTCTTTTGGGAAAAAAAACAAACAAACTTAGATTTCTGCTTTCAGGAATTAATCAGCAAAAGAACCTTCCTAAAAAGAATGTAATTAACCACATATTGACTCAAAGGGCCTCAGGGTTAGAGGAAACTTAATAATTTGGCCGATTCTCTCATCCAGGGCTCAATCCTCCTTTATATTCTCTTCACTACTGAAACAGTTCCATGATCTTGAGAGAATAAGAGAACTACTGTGTGCCAGGTGCTGTTCTGGGCACTGTATTTAAAAAAATTGTGTTATTTTAATCTTCACAATCTGTATGAATTATTATCCCCTTTCTTTACCTATGTAAAGAAACTAAGTCTCAGTGAACTAATACCAGTGAAAAGTCCAAAGAGCTACTAAGTGCCAGGGCTTCATGTCTCCTGGGATCTTAAAGGTTGCTTCTCCCAAAGAGAGAAAAATCAGGAATAGGATTTGATATAATGGTTAGCAGTGAATAAAGCCCCAAATAATTTTCTTTCTCAGAAAGAACCCAGAATTCACAAAAGCCCTTTTGTGTTATGAGTACAAGAATGTTGCCTTATTCTTTGATCATTTTCAGAACAACTTTGGTTACCCAGACTGATATGGTTATTTGCTTGAGATAAAATATGGCACAGGTTTGGATGGTAACACATATGAGCAGTTTAAACCTCATTTAGCAGACCTCTCATTACGGAAAGGATTCTATTTGTTGCAAAAGAAAAGATCTTTAGTAGTCATGTTTTTCCCCTCTCAAGATTTTAATACTTAAGATATCTGGCTTTCAAAGATCTTAGTTTGTTAGTAAATCAGAAGATGGTACAGCTTCTGCAAAACATACTAAACGAGTTTAAGATTTTTGGGTCTGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAACTCAGGAGTTCGAGACCAACCTGGGCAACGTTGCGAAACTCAGTCTCTACAAAAAACACAAAAAAACTTAGCTGCACATGGTGGTGTGTGCCTGTAGTCACAACTACTTGAGAGGCTGAGGTGAGAGGATTGCTTGAGCCTGGTAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCTGGGGCGACAGAATGAGACCCTGTCTCAAAAACAAGATTTTGAGTCTAGGAGACTTCACTGTTATTCAGGGCATTTCTCACTATCTTTACCTTTTCTTCCTTACCGAGAACATCACCAGTGGCCATGATGTCACATGTGTACATAGCTGCCATCAGGCGCTGAGGTTTCACTTGCAGTGCATAGCGACATGCTTCTTTCATGGTGGCAATTAGCTGTCCTGAGAAAGGTCCATAGCAGTCAGTGAGTGGAGATTCTCCTTTCTGTGATGTCCTCTTCTCAAAGGCCTCAGAGCAGCCATCTTGTAGCTCTTGGTTTTCATTTCCACCAGAACAGGTTTCATTTTCCTCCTGTCCCTCTTTTGCCAGATCACTTGCTCCTTGTTCCTCAAATTTACTTAGGTCCCATTTTTCCAGAACAAAACAGACACCCATGAGAGGCTCCTCACACTTGGGGCCAGAGAGGGTTGCTAGTTGGAAGCCACTCACAATGCTATTGCCCAAATCTCGGTATCTACTGGCTTCTTTTGAAGCTTTGTCAGCTGGACCTGTCCATACTGAGTTCTGAAAATCTTCACTTTTATTGACTAGTATGTTGGGCCCACATTTTCTTGGGCCAAATGACCAGATTTGGTCAACAATGTTCCTCCATCTTCTCCCTGTTAGGTGTTGCTCCAGTTTTCCTTTGAATTCCCAAATTTTCTCTTGGGTCTTCTGATGAATCATGTGAGTATTTTCACCCTCATTCAAAGAGGATGTCAACTGCTCCATAGAACGAATCAAATCACTATTTTCTTCCAGAATCTGGGTGACTTCTTCTGGAAGGGGCATGGCTCGAACACTGAGCGTGGCAAGTTTATTGGGAGTTGTTATGGTGATTAGCCCGTCAGAGTCAACTTGGATTCCTTCAGGGATTTTGCTTTGATCTTCTTTCATTTGGTGTATGACTGCAACTTTTTGCTGTTTGCCTATTTCTTCATTGACCATGTCAACTTTTGGGGGTTTTGTGATTGTTTCTCTGAATGGAATAATAGGTTCAGATACACTGATATGAATCTTTGCAAACCTACAGACAAATTCAAGAGAAATAACAGAAGGTTAAAATCAAAATAGCATCAAAGCTCCTGTGTAGAAATTACTACACAGTGGAGATTCTGTAAAAACATAGGAACATAAAAATTATCTTACTATGAAAGATCTGCAATTTACATTATATAACATTCAAAAACTGCTTTCTTTCTGATTGAAAAGACTACTTCTAATGGGAATATACCTCCAGGGAAATCCTTGCATGTACTGGAATTTCACTTTTTTTTTTTTCATTTTCAAGATATATAAACCACCCATTTAGATAAGAATGTTTTGAGCAGAAAATAAATGTTTTAATATATGAAATATGAATGCTTTAAAACAGTATTTGCCCATCTAAGAGTGTGGAGAAGAAAAGCTCAATGATTAAAACTCTAAATAGACATAGAATCACAGAACCTCAGGATAGCTAGTCAAATCTTCACAATGTATTTGGCTTTGATAATGAGGCTTATAGCAAGGCTAGCATGATCCATGAGTTTGTCTAGAGCAGCACTTTCCAAAAGAACTTTCTGCAATGGTGGAAATGTTCTATATGTTTATTGTGATTGCTGAGCCCTTGAAATGTGGCTAGTACAGCTGAATAAATTTTTAATTTTATTTAAATTTAAATAGACACATATAGCTACTAAGCATTTGAAATGCGGCTAGTATGACTGAGGAACTAAATTTTTAATTGTATTTGATTTTAAACAGCTGCATGTGGGTAGAAGCTACTCTTCTGGACATCATAGGTCTTGAGCCCCAGTCTGCCACCAAGTTCAGAAAGCCCCTTTTCCCACATAATATCAAATTTGATATTGTTGTATATTGTATATTTACAATCTTTTTGTATATTCACAGGATATACAACAAGATGGACCCGACATTGTATGTTTTTAAAACTACTTTGATATTCAAACCTGACAAAGACAGTATATATACACAAAACTGCAGTTCAATCTTACCTAAGAATTCAGATATAAAATCTAAGATAAAATAACAAAAACTATGGATATGCAGGTGTGTGCATTAAAAAAAAACTTATTATGTATGAGGCACTGTGTTAAGTGTTTTACATGTAGTATTTCTTTAGTAGGCACTAGTACTATCTAATTTTGTAGAAGAGAAAACCAGATAAGAAAGATTAAGTAATTTCTCCAAATAGTCTGTAAGTGAAGAAGCTAGGATTCAAATTTAGGTCTGACTTCAGAATTCACACTCTCAGTCATTATGCTATACTGAAAAATGAAGTTACTCAGTACATTAAAGGAATAATTTACTACAACACTACGAAGTTTGTATTATAGGTTATATGAAAATTAATTTGTATTAGATCTGTTAATACCACATTAAAAATATCAAATAATCTATGTAGCCACTTTTAAATATGCTAAATTGGCATTCAATAAGATTCAATACCTATTCTTG
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Task1_train_21779
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A mutation in EFL1 (elongation factor like GTPase 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Shwachman syndrome
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TGCCTGCTTCCCAGTGTTCACACCTTTGTTTAGAAATCTCCTTCTCGAGTGTGAGTGGGACCTGTGACTTGCTTCTTCTAACAAACGGAATATGGCAAAAGTGATGAGATGTCACACTGTGATTCTATACCATCATACAGGACTCTGTCTTGCTAGGAGATTCCTTCTACTCTCTTATATGGCTTGATGAAGAGGGCCTCCAAGTTGGGAAGGTCCATATGACAAGAAACTGTAGGTGGCCTCTAGGAGCTGAGGGCAGCCAAAGGCCAGAAAAAATCTGGGACTCTTAGTACTGCAGGTGCAAATATATGAATTCTATCAACAACCTTTAGTGAGCTTGGAAGCAGGTTCTTCATCAGTCAGTCCTCCAGATGAGAATGCACCCTGGCCAACATTCTGATTGTGGCTTTGTGAGACCCTAAGGAGAAGATGTGGCTAAGCCATGTCTGGTTTTCCAACCCACAGAAACTGTGGATGACAAAATGTGTAATGTTTCAAGCTGCTACATTTGTTGTAATCTGTAATATGCAGTAGCAGAAAACTAACACAAAGGATGAACACAAATTCTGGGTAGGGGTTACTTTGAAGGTAGGTCTGAAATATTTCAGGTTTTTTTTTAAGCAGTTGGAATTAGGTTTTATGGTGCTCTGGTTACTGAAATAAGAGGCCATTTGAGCTGTCAATGTATTGTATCATTCCTGCTTAAGACATGAGACACATAAGCAACTGATTTCAACCTGTAGCAAAGACACATTATGCAGAGATAAAGTGGATTGTTCATGGAATTTGTAATGCCAAATAAATCAATGTTTCACTAAATAACAATTTCTTGCTCACTTACCTTCACAAAAAAGGAAAAAATTAACTGATACTTGACCCTTACTGATAAATAGCAAACTATCAAGCCAAGATAATCACAGATTACGTAGATGTATAAAAAATCATAGATGAGTTTTTATACATATCACTTTCAGACTCCCATAAAACATAACCCTATACACACCAAGTGCTGCAATCTTTCTTGCTAAATTAGAACATGCCATAGCTCAACAAGGACTGCTTCACTGCCACGCAGCTCTGCACTCTCCAAGGATTAAACTGCTAAAACTCATGGAATAAGCATTCAAGGCAAAGAAAAACTGATGGCAGAGACTTACTTCAACTGCTACCTCCTTCTCTCTCACTTGTAGCCAAGTACCACAGCTTCCCTGGTTTATCTACAGACAGGCTGCTTCCTGCACAGAGAGGAGCATGGGTTTTTGTGCTCATGATGCTCCACGGTGCCAGCTGACAATTTCCTAGCTTACTGCTTTGTGCTGATCCAGACTGGCTGCTTGGACCTCTGGCACTGTCTTCATCCTATGACCTCTATTATTTAATTATGATATAATTATAATGTATATATCTTGCTTACTTCCAAAAATGTTCTGAGACATCTCTAGCCTGTGATCCCTGTTTCGCCCCTTGGCTCAGGCATTTTTAGATGCTGCCTGTTCACCTACTTACAGACCCTCCTGTCCAGACTCAGGGTCTGTGTGCCATGCAACTCCTGCCTATCCCCTGCTCACTGCCCACACCTTTGGCCTAAGCCAGCTAGTTTTTGGATCTTCCTATTTCTCAAAGACCGGCCATTGCCCTGGCTCCAGCATGACATCTGCTCTTATCAGTTCTTTTCTCTAACCACAAGGTGACTCTTGCCTAGAAGAGAAAAGCCTTATAATTAAACAAGGCCTGAAAATTTGGTCCACATATTGGTTTCCTAAATGCTACTAATTGAGACATATATGACAAATGTTATCAAAGCAACACAAAAGGATACACAGTCACTCAAGTGTGCCTTTCCAGAGACAAACTAAATCTACCAACAAGATAATCACCAGTCCCAACAAAATGTGAAAAGATATCAGACCCTCGAGAAACAATATATAAATATTTTACTTTCAATTCTTACCCTTCGTAAAAACTCAAGAGGACTGTATTTGGGCCCCAAGACAAAAATTTTCTTTCCTCTTCGAGCCACACCACTGAACACCCGAGCAAATGCAATAAAAGACTCTTGGTTGTTTTCTTCCTGGAGCACAGGTTTAGGGGTCATACTTTCCACCTGTTGCTCGTCACCTGACAGAAACAAAAAGATAATTAGTGCCAAGAATGCCCTCTTAATTCAAGAACTGTCTGAAATATAGAAGGAGGAGTGAATATGATATCTTTCGTCAAGTTTCAGGAAAAAAAAGAAAACAAAACAAAACAAGAATGGAAAGAATATTGATAAAAACTACGATTAAAGCTTAAAAATCTCAAGAACTAAAGGATGAGTGTCCCAAGTTAAGCAAAAAGGCAAATACTTTGCAACAGAGCCTACTTAGGAAAGCTATACCTCTTGGCTCCTCTCCTTTTGGACATGTTTCAATGGCACTCCCATCTTGGGTGGGCTCCAAGGGTGCCTGTCCCTGTGCTGCTGCAAGCTTCTCTGCATGCCTTTGTCTTGCACGCTCACGTCTCTGAGCAATTTCTTCTTGAGTGAGAGGCCTACAGGATATCACAAATATGCTGTCATCTCTCAGTTCATCCAAGTAGGGAAACAGCAAGCATTGACATGGCTGGGTAAGATGAAGATTGGTCCCAGCTCCATTCCAGGCAATTTTGTCCAAGTCCTCTCCCTGTCTGTAGCAATAAGAGAGGGCCTATCAGCCTCTCTCTAATAATGCTGTGTCCCAACTATTCTGAGCTTATGAACTGACATGCAAGAGCCCAAGTCCCCATCTGGAGCAATGTACAATAGTATGGAACCTTTCTCAGATACCTATATTCCTTCTGGAAAAGGCAAAGAACAGGAAGAAGGAAGGGAAACAGTGACAGATACTAGGGTTTGGAACGACTCTGGCAGGGAAACAAGCATAAGGCCTCAATAACTGGGGTTCAAGAGGAAGGGTTCAAGGTCAGGATGAGTACTGGCAATTCATCAGGACTAGAAGGTCAAACTGAAATATCAGCCACTGTGTTAGACCTAAGAAGTACCATCACAGAAAAGGCAGTGTGTGGGTGTGTATGTGTGGTTTTCCATGGGGGTGAGAATGAGAAGGGGTGGGGGAGGTAATTAAGCTCTTTTTCCTAAAGAACTACCCTCATGTCTGTCAGGACGCAGAGAAGGTATTTAGAGTTTTAATACTAAAAAGGTGTTGACAAAAGGGGAATACTAAGTTGAATACAAATTCTGTTTGGGAGTTTGGGTTTGGAAGGTAGAAACCAGGCCGGTAGACTGTTTCCTAGGACTTGGCTCCCTTCCCACGTAGAGGTCCTTATGAACCTACCTGCATGCTCAACCCCAACACATGAACAAGACCAAACCCTGTCCTAAGGCTGATAGATTAACAGCATCTTCTGCCCTATACTCTGGGAAGTGAACATCAAAGCACTCAGGCTAGTCCTCTGGTCCTAACTTTATGCTCCAGCTCTGGAAGCTGGACAACTCTTCATGGTCCCAACACTTTGTGCCTCTCTCCCGTGTTGTCCATCACCTTTGATATTATGATTCCTGCTTTATTTGCCAATCTCAGACTTCACACCTAACTGATAACCTTCATCCCCACTTTGCCATGCCATATTCCCCTCCTCTCTCCGTAAGCACTGGAAGCCATGCAGGTAACCATTCTCCCTACTTGTCTTCCAAATGGCCACAGACCCTTAGGGCTCCTGATGCAAAGTGGCCTAACTCCTTCTACCTTTCTATTTCACGTAAGCTAACCTGCAAGGTGACTGCTTAAATCATTGACTGTCCACTGCTATACTCTTCAGATATCCGCCTGCTGGACAAGACTTCTCTAGTCCTAGTATCCAGGACTAGACACTACTTCTGCCTTCCTTAGCACCTGTCCCTCAAAATCAATGAGTTTAGTTCCAAGAGTAGGCCCTTCCACTCACACCCACTCTGCTGCAGGTCACTGGGCTGTGCAATAGAATACAAAAATATGAGAAACAATCCTTGAGCCTGGCTTGGTCAGGTGTCTTGTTAGGCAATCAAAACTGCTGGCACTAGGGGGCCACACTACCACTGCAAGAGACAAGCTCCTCATTATAGGAAGCTCTAAATGTCAGA
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TGCCTGCTTCCCAGTGTTCACACCTTTGTTTAGAAATCTCCTTCTCGAGTGTGAGTGGGACCTGTGACTTGCTTCTTCTAACAAACGGAATATGGCAAAAGTGATGAGATGTCACACTGTGATTCTATACCATCATACAGGACTCTGTCTTGCTAGGAGATTCCTTCTACTCTCTTATATGGCTTGATGAAGAGGGCCTCCAAGTTGGGAAGGTCCATATGACAAGAAACTGTAGGTGGCCTCTAGGAGCTGAGGGCAGCCAAAGGCCAGAAAAAATCTGGGACTCTTAGTACTGCAGGTGCAAATATATGAATTCTATCAACAACCTTTAGTGAGCTTGGAAGCAGGTTCTTCATCAGTCAGTCCTCCAGATGAGAATGCACCCTGGCCAACATTCTGATTGTGGCTTTGTGAGACCCTAAGGAGAAGATGTGGCTAAGCCATGTCTGGTTTTCCAACCCACAGAAACTGTGGATGACAAAATGTGTAATGTTTCAAGCTGCTACATTTGTTGTAATCTGTAATATGCAGTAGCAGAAAACTAACACAAAGGATGAACACAAATTCTGGGTAGGGGTTACTTTGAAGGTAGGTCTGAAATATTTCAGGTTTTTTTTTAAGCAGTTGGAATTAGGTTTTATGGTGCTCTGGTTACTGAAATAAGAGGCCATTTGAGCTGTCAATGTATTGTATCATTCCTGCTTAAGACATGAGACACATAAGCAACTGATTTCAACCTGTAGCAAAGACACATTATGCAGAGATAAAGTGGATTGTTCATGGAATTTGTAATGCCAAATAAATCAATGTTTCACTAAATAACAATTTCTTGCTCACTTACCTTCACAAAAAAGGAAAAAATTAACTGATACTTGACCCTTACTGATAAATAGCAAACTATCAAGCCAAGATAATCACAGATTACGTAGATGTATAAAAAATCATAGATGAGTTTTTATACATATCACTTTCAGACTCCCATAAAACATAACCCTATACACACCAAGTGCTGCAATCTTTCTTGCTAAATTAGAACATGCCATAGCTCAACAAGGACTGCTTCACTGCCACGCAGCTCTGCACTCTCCAAGGATTAAACTGCTAAAACTCATGGAATAAGCATTCAAGGCAAAGAAAAACTGATGGCAGAGACTTACTTCAACTGCTACCTCCTTCTCTCTCACTTGTAGCCAAGTACCACAGCTTCCCTGGTTTATCTACAGACAGGCTGCTTCCTGCACAGAGAGGAGCATGGGTTTTTGTGCTCATGATGCTCCACGGTGCCAGCTGACAATTTCCTAGCTTACTGCTTTGTGCTGATCCAGACTGGCTGCTTGGACCTCTGGCACTGTCTTCATCCTATGACCTCTATTATTTAATTATGATATAATTATAATGTATATATCTTGCTTACTTCCAAAAATGTTCTGAGACATCTCTAGCCTGTGATCCCTGTTTCGCCCCTTGGCTCAGGCATTTTTAGATGCTGCCTGTTCACCTACTTACAGACCCTCCTGTCCAGACTCAGGGTCTGTGTGCCATGCAACTCCTGCCTATCCCCTGCTCACTGCCCACACCTTTGGCCTAAGCCAGCTAGTTTTTGGATCTTCCTATTTCTCAAAGACCGGCCATTGCCCTGGCTCCAGCATGACATCTGCTCTTATCAGTTCTTTTCTCTAACCACAAGGTGACTCTTGCCTAGAAGAGAAAAGCCTTATAATTAAACAAGGCCTGAAAATTTGGTCCACATATTGGTTTCCTAAATGCTACTAATTGAGACATATATGACAAATGTTATCAAAGCAACACAAAAGGATACACAGTCACTCAAGTGTGCCTTTCCAGAGACAAACTAAATCTACCAACAAGATAATCACCAGTCCCAACAAAATGTGAAAAGATATCAGACCCTCGAGAAACAATATATAAATATTTTACTTTCAATTCTTACCCTTCGTAAAAACTCAAGAGGACTGTATTTGGGCCCCAAGACAAAAATTTTCTTTCCTCTTCGAGCCACACCACTGAACACCCGAGCAAATGCAATAGAAGACTCTTGGTTGTTTTCTTCCTGGAGCACAGGTTTAGGGGTCATACTTTCCACCTGTTGCTCGTCACCTGACAGAAACAAAAAGATAATTAGTGCCAAGAATGCCCTCTTAATTCAAGAACTGTCTGAAATATAGAAGGAGGAGTGAATATGATATCTTTCGTCAAGTTTCAGGAAAAAAAAGAAAACAAAACAAAACAAGAATGGAAAGAATATTGATAAAAACTACGATTAAAGCTTAAAAATCTCAAGAACTAAAGGATGAGTGTCCCAAGTTAAGCAAAAAGGCAAATACTTTGCAACAGAGCCTACTTAGGAAAGCTATACCTCTTGGCTCCTCTCCTTTTGGACATGTTTCAATGGCACTCCCATCTTGGGTGGGCTCCAAGGGTGCCTGTCCCTGTGCTGCTGCAAGCTTCTCTGCATGCCTTTGTCTTGCACGCTCACGTCTCTGAGCAATTTCTTCTTGAGTGAGAGGCCTACAGGATATCACAAATATGCTGTCATCTCTCAGTTCATCCAAGTAGGGAAACAGCAAGCATTGACATGGCTGGGTAAGATGAAGATTGGTCCCAGCTCCATTCCAGGCAATTTTGTCCAAGTCCTCTCCCTGTCTGTAGCAATAAGAGAGGGCCTATCAGCCTCTCTCTAATAATGCTGTGTCCCAACTATTCTGAGCTTATGAACTGACATGCAAGAGCCCAAGTCCCCATCTGGAGCAATGTACAATAGTATGGAACCTTTCTCAGATACCTATATTCCTTCTGGAAAAGGCAAAGAACAGGAAGAAGGAAGGGAAACAGTGACAGATACTAGGGTTTGGAACGACTCTGGCAGGGAAACAAGCATAAGGCCTCAATAACTGGGGTTCAAGAGGAAGGGTTCAAGGTCAGGATGAGTACTGGCAATTCATCAGGACTAGAAGGTCAAACTGAAATATCAGCCACTGTGTTAGACCTAAGAAGTACCATCACAGAAAAGGCAGTGTGTGGGTGTGTATGTGTGGTTTTCCATGGGGGTGAGAATGAGAAGGGGTGGGGGAGGTAATTAAGCTCTTTTTCCTAAAGAACTACCCTCATGTCTGTCAGGACGCAGAGAAGGTATTTAGAGTTTTAATACTAAAAAGGTGTTGACAAAAGGGGAATACTAAGTTGAATACAAATTCTGTTTGGGAGTTTGGGTTTGGAAGGTAGAAACCAGGCCGGTAGACTGTTTCCTAGGACTTGGCTCCCTTCCCACGTAGAGGTCCTTATGAACCTACCTGCATGCTCAACCCCAACACATGAACAAGACCAAACCCTGTCCTAAGGCTGATAGATTAACAGCATCTTCTGCCCTATACTCTGGGAAGTGAACATCAAAGCACTCAGGCTAGTCCTCTGGTCCTAACTTTATGCTCCAGCTCTGGAAGCTGGACAACTCTTCATGGTCCCAACACTTTGTGCCTCTCTCCCGTGTTGTCCATCACCTTTGATATTATGATTCCTGCTTTATTTGCCAATCTCAGACTTCACACCTAACTGATAACCTTCATCCCCACTTTGCCATGCCATATTCCCCTCCTCTCTCCGTAAGCACTGGAAGCCATGCAGGTAACCATTCTCCCTACTTGTCTTCCAAATGGCCACAGACCCTTAGGGCTCCTGATGCAAAGTGGCCTAACTCCTTCTACCTTTCTATTTCACGTAAGCTAACCTGCAAGGTGACTGCTTAAATCATTGACTGTCCACTGCTATACTCTTCAGATATCCGCCTGCTGGACAAGACTTCTCTAGTCCTAGTATCCAGGACTAGACACTACTTCTGCCTTCCTTAGCACCTGTCCCTCAAAATCAATGAGTTTAGTTCCAAGAGTAGGCCCTTCCACTCACACCCACTCTGCTGCAGGTCACTGGGCTGTGCAATAGAATACAAAAATATGAGAAACAATCCTTGAGCCTGGCTTGGTCAGGTGTCTTGTTAGGCAATCAAAACTGCTGGCACTAGGGGGCCACACTACCACTGCAAGAGACAAGCTCCTCATTATAGGAAGCTCTAAATGTCAGA
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Task1_train_21780
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Gene EFL1 (elongation factor like GTPase 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Shwachman syndrome
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TTCGAATATATTTATAGTTACTTTTATTAAGCAGACTACATACAACTAAAGTCTATGAGATTTTATGTGATATAAACAGGTGATTCTGTGTAAAGAATGTCAGGGGTATGCATAATTACTACAACTGGGTTGGAGTAAGCAAAGGAGGGTTTTTTTCCTTCAAGACAAGTCTTTATTGCACTTTAGGAACTTCAGCAAAGCTATGGAATCTCTGTATTGTTCAAACCAGAGACCAATGAGTAGGAGAACTGAAGATATTTAACACTGCTATCTGTCTGCAATGTAAATATGTATTAGCATATAATCCTAGAGCATCACTTTCCTGCTACCCAGTAAAGCTGAATTTATTCTAAGTACACCAAGTATATACCTCCCTAGAAAATAATTATCAAGCAAGCAGGAACTTTGCTTTATTCACAGCAGTATCCCTAGGACCAGAACAACGCTTGTCATATAGAAGACCTTCAGAAAATACTTGTTGAATGGATGAATCCCAGGTTTTTTAGGATAGTAGCAGCTTAACATAATTTTAAACAATACATTTAAAGTAATTTGTTACACCCCACTAACTTTCCACTTGAATAAATTCATAAAGAAAAAAAAAACCCTTTTATCAGCCTTCACATTCTCAAAATGTGAGCAGTAAAATTATAAAAACTCATGGAGGCAGGGGTTACTCACTGGATTTGTACTAAAACTCATTCACAGCTGGCTTCACTTGTAAGTGATCCACTATCTGTCTTTCTGTCAGTTTCCATACTCACATTACTTCAGCTCTTCTATCAATGACAACAGCCACCTAATCTCTGACTTTGGATCCATCCTAAGCATGTCTACCAATCTAATCTTTCTCATGTTTTATTTGATTACATCATTCCTGCTCCATGTTTTCCCCCAAAGGCTCCCTACTGCCTAATAGTAGACATTAATGATCGTTTTCATGGTGAAGCGTTTACCTTCCCTCTCATTATTATCACATTTAATCCTATAGCCTATAAAGCAGGTATAGTTTTCATCCTGTTTTACAGATGCTGTATATTGAAGCTCAAAAAGGCAAGGTATGTAACTTGAAAATGGAGATCTGAACTTAGGTTGTCTAACTCCAGAGCTGGAGCACTCAACTCTTATCCCAGTTCCTAGCTGGCATGAGCAGCTCTATGAGATATGACTCAGCCTGCTTCTTCACCTCGCCAACTGGTCCTTCATCTTCAGGATGGTAAATATGTTTTATTTCATATGCCCATCCCAATCACTTTGCTGTGGTTACCTAAACTACCAAGAGGTTTGAAATCAAGAGGAGGCTTAGCATGAAGGAGCGCTATGGAGTTACAGCAGTATCTGTCAGAAGAACATACCATGGGTTAGCTATCTCTGCCTTTCCCATATACTGGGCTTTGACCACATATATTTCCCTCTCCCCTTGATGACACATTCCCACCTGTAATGATTATCTCCATTTGTCATCTTGAGCCCCCTTCAAGTGTCATCTCTAATACTAATTATGTTGTGAGGTCTTTTCCTAACCCCTCACTTCCTAATCCTCTAGTTCTCCCAACCTTAGAGTCTACTTTTTTCTCTTGTTTGTCTCATTTTGCTCTGCTCCCCGTTAAAACCTCCCCTGGGCTAGTGCCCTACTCATAAATCTCCACCTTCAGACATACTAAGCAAAATATCTTGAACTTAACAGACGTTTGATAAATATCTGATGAATTAAATAGGATCACATACCACAGACTCTAAGGACATTATGTCAAGACTACAGACATTTTATATGTAAAGCCATTTCAAAAACAAAAAATTCAAGTTCTGCTTTAAAAAACAACATGACATAATATATAGAAGAATGCTACTCACTAGGTAACCGTGTTCATTTCAAATGCTTTATAGCAAAGCAGGCTTCCCTAACATCACACAAAACTTTTAAAGAAAGAAGACTTGCTTCTTAGCAAACATCACTCTCAGCTGTCCACAGCTTCACTCCACTGAGACATACAGAGACACATCTCCCTTATTTATCAAAATAAGCCATTTAAAAAGTATTCTTACCATGGTCAACATGAGCCAAAACACAAATATTCCTGATGTTGGCAGTGTTTTTCTGGAGTTGAATCATCTTATCCAAACTGTTGAGCACCATGATTACTTATTTCCTGTGACTAAAAATTAAATATGTATTACAAATGGCCCAGAGGCTAAAGGTCGGGGCAAAAGAAAAAAATAATAATAAACGCTGGGAGGTGGCAAGCTTCTCAAACCCCTTAAACCAAGAACCCAGTGAATGTTTATTGATGAGATAGACCACCAAGGCCTAAGTCCAGTTCGAGCACTAAAGTCAGTATCCTACCACGATTACACTTAAGGAGTTTGCTCATCCTTCCGGATCCAAAGGCTGCGATGAATCACGCAGCTCGAGGGGACTGGGTGCACAGTGACACCAGTAACCCTGCCGGTGGAGGAGTACTCCAGTAAACATCTCCAGGCCAATGACCACGTACAGGAAGGGTTGCATCCAGGAGGGAGAGAAAATGCTGAAGAAGATGCTCCCTTTCTCTCTTCAGTCTTCCCCCAAGTCCCTCATTCTGACATTCTCGCTCGTCCTCGCGCGAGGTCAAATACCCAGCTTTATTCCTGCCCATGGAGCCCGAACAAAGTTTTGGGTCACGTGCTTATTATCCAAGCAGGTGCACTGCCGGTCTTTCATTCCTTTCTAAATAAAAAGGAAAAACCTCTACACTACATGCCCTTCATTTCTGCAGGGTCCCAGATTCGTTCTCTTTGAGGATCCTGGGTCCACACAGACAGGCGACCGCCCCGGCCCCAGACGGGAAGCGGCACTCCGGGGACCGAAGCTCCCAGCCCGCGCTCGGCCCCAGCCCCTGTTCCCGCCTCAGAGCCGCAGCGAGCGGGTTCCTCCGGCACCGCCCAAAGGCTGGCCTAGGAGGTTCCAGCCCCCAGCGCCAGCCCACACTCACCGGCTGCAGCAGCCCCACCAGCCCCGCTCCTTCTCTCGGGTCGCACCCACACCGAGAGCTTCCGAAAGTCCGAGAGCTCTGCGGGTCCGACACGCCCGCGCGCCAGGGGGCGGGGCCGGCTGTCGCTCGACCTTTCACCCGCACGTCTCTGACGCCGCCGGAAGCCGGCGCCGAGTCTGTCACCGGGCATCCCTCTGTTGCCTTGACTACGGCGGGCGCTGTGGGAGTGGAGAAGCTGCAAGTGCTGAGGCGCGGTGGAGGAAAGCATGGGAGCCAAGAGTATGAGGAGCTGGTGTCTGTGTCAGATTTGTAGCTGCGGGTAAGAAACGGCTGGTGTAGCGGCGGGCCCGGGCTTGGGAGCCGACCTAGGGCCTAGGTGCACGGAGCCGGCTCCTCGGGAACCCTGAGAGTGGCCGTCCCCCGGAGATGAAGGGACGAGGGCGCAGCGACATCCCCACTTATCCCGCTCCGCGAATACTCGCTCCTCACCCGCCTGCTACCCGGGGGTAAAACGTTTGTTCGTAGCCCCTGAGACTCCCAATCAAGGATGCAAAGTAAAATGCCACCCGGGCCAGGTAAGTAATATATGTGAAGCCGCGACGGGATATAACGCTGGTGAGTAGTGGGATGTGATCCGACTGGGAGAGTGCATTTCCACCCCATAATCCCCCACCACGAAGATGAGAAAGAACAGTGCTCAAGGCCCTGAGTCTGCAACCCATATCACATTTTCTTTCATCTGTAGCTTTCTGTCCTCCCAGCCAGACCATATTCCCATTCCCGTCCAGGCAGCAGTTCTTTGGGATCCGCCTGACTGAAAAGTCAGTAAGTAGTCCCTACCCTGAAATCTAGAATCCAACTGTGAGTCCTGCCTAACAACCTTCCATCACCTGTAAACACAGTCCTCTCCTTCCTCAGCTTCACTATTGACCCAGGGATTAGATCATTATTTGCTAAGTAAATATGAACGTTGTCAATCCCTGGTGTATTTGTAATCCCATTCAAAGAAAACACCTACATGTTGATGGAAAGCAGTTTTTTTAATAGTCTCATAATAAACACAGTTCATAATTATATATAGATTAAAATATCAACAAATTAACTTTGGGTGTATGAATCCTCAG
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TTCGAATATATTTATAGTTACTTTTATTAAGCAGACTACATACAACTAAAGTCTATGAGATTTTATGTGATATAAACAGGTGATTCTGTGTAAAGAATGTCAGGGGTATGCATAATTACTACAACTGGGTTGGAGTAAGCAAAGGAGGGTTTTTTTCCTTCAAGACAAGTCTTTATTGCACTTTAGGAACTTCAGCAAAGCTATGGAATCTCTGTATTGTTCAAACCAGAGACCAATGAGTAGGAGAACTGAAGATATTTAACACTGCTATCTGTCTGCAATGTAAATATGTATTAGCATATAATCCTAGAGCATCACTTTCCTGCTACCCAGTAAAGCTGAATTTATTCTAAGTACACCAAGTATATACCTCCCTAGAAAATAATTATCAAGCAAGCAGGAACTTTGCTTTATTCACAGCAGTATCCCTAGGACCAGAACAACGCTTGTCATATAGAAGACCTTCAGAAAATACTTGTTGAATGGATGAATCCCAGGTTTTTTAGGATAGTAGCAGCTTAACATAATTTTAAACAATACATTTAAAGTAATTTGTTACACCCCACTAACTTTCCACTTGAATAAATTCATAAAGAAAAAAAAAACCCTTTTATCAGCCTTCACATTCTCAAAATGTGAGCAGTAAAATTATAAAAACTCATGGAGGCAGGGGTTACTCACTGGATTTGTACTAAAACTCATTCACAGCTGGCTTCACTTGTAAGTGATCCACTATCTGTCTTTCTGTCAGTTTCCATACTCACATTACTTCAGCTCTTCTATCAATGACAACAGCCACCTAATCTCTGACTTTGGATCCATCCTAAGCATGTCTACCAATCTAATCTTTCTCATGTTTTATTTGATTACATCATTCCTGCTCCATGTTTTCCCCCAAAGGCTCCCTACTGCCTAATAGTAGACATTAATGATCGTTTTCATGGTGAAGCGTTTACCTTCCCTCTCATTATTATCACATTTAATCCTATAGCCTATAAAGCAGGTATAGTTTTCATCCTGTTTTACAGATGCTGTATATTGAAGCTCAAAAAGGCAAGGTATGTAACTTGAAAATGGAGATCTGAACTTAGGTTGTCTAACTCCAGAGCTGGAGCACTCAACTCTTATCCCAGTTCCTAGCTGGCATGAGCAGCTCTATGAGATATGACTCAGCCTGCTTCTTCACCTCGCCAACTGGTCCTTCATCTTCAGGATGGTAAATATGTTTTATTTCATATGCCCATCCCAATCACTTTGCTGTGGTTACCTAAACTACCAAGAGGTTTGAAATCAAGAGGAGGCTTAGCATGAAGGAGCGCTATGGAGTTACAGCAGTATCTGTCAGAAGAACATACCATGGGTTAGCTATCTCTGCCTTTCCCATATACTGGGCTTTGACCACATATATTTCCCTCTCCCCTTGATGACACATTCCCACCTGTAATGATTATCTCCATTTGTCATCTTGAGCCCCCTTCAAGTGTCATCTCTAATACTAATTATGTTGTGAGGTCTTTTCCTAACCCCTCACTTCCTAATCCTCTAGTTCTCCCAACCTTAGAGTCTACTTTTTTCTCTTGTTTGTCTCATTTTGCTCTGCTCCCCGTTAAAACCTCCCCTGGGCTAGTGCCCTACTCATAAATCTCCACCTTCAGACATACTAAGCAAAATATCTTGAACTTAACAGACGTTTGATAAATATCTGATGAATTAAATAGGATCACATACCACAGACTCTAAGGACATTATGTCAAGACTACAGACATTTTATATGTAAAGCCATTTCAAAAACAAAAAATTCAAGTTCTGCTTTAAAAAACAACATGACATAATATATAGAAGAATGCTACTCACTAGGTAACCGTGTTCATTTCAAATGCTTTATAGCAAAGCAGGCTTCCCTAACATCACACAAAACTTTTAAAGAAAGAAGACTTGCTTCTTAGCAAACATCACTCTCAGCTGTCCACAGCTTCACTCCACTGAGACATACAGAGACACATCTCCCTTATTTATCAAAATAAGCCATTTAAAAAGTATTCTTACCACGGTCAACATGAGCCAAAACACAAATATTCCTGATGTTGGCAGTGTTTTTCTGGAGTTGAATCATCTTATCCAAACTGTTGAGCACCATGATTACTTATTTCCTGTGACTAAAAATTAAATATGTATTACAAATGGCCCAGAGGCTAAAGGTCGGGGCAAAAGAAAAAAATAATAATAAACGCTGGGAGGTGGCAAGCTTCTCAAACCCCTTAAACCAAGAACCCAGTGAATGTTTATTGATGAGATAGACCACCAAGGCCTAAGTCCAGTTCGAGCACTAAAGTCAGTATCCTACCACGATTACACTTAAGGAGTTTGCTCATCCTTCCGGATCCAAAGGCTGCGATGAATCACGCAGCTCGAGGGGACTGGGTGCACAGTGACACCAGTAACCCTGCCGGTGGAGGAGTACTCCAGTAAACATCTCCAGGCCAATGACCACGTACAGGAAGGGTTGCATCCAGGAGGGAGAGAAAATGCTGAAGAAGATGCTCCCTTTCTCTCTTCAGTCTTCCCCCAAGTCCCTCATTCTGACATTCTCGCTCGTCCTCGCGCGAGGTCAAATACCCAGCTTTATTCCTGCCCATGGAGCCCGAACAAAGTTTTGGGTCACGTGCTTATTATCCAAGCAGGTGCACTGCCGGTCTTTCATTCCTTTCTAAATAAAAAGGAAAAACCTCTACACTACATGCCCTTCATTTCTGCAGGGTCCCAGATTCGTTCTCTTTGAGGATCCTGGGTCCACACAGACAGGCGACCGCCCCGGCCCCAGACGGGAAGCGGCACTCCGGGGACCGAAGCTCCCAGCCCGCGCTCGGCCCCAGCCCCTGTTCCCGCCTCAGAGCCGCAGCGAGCGGGTTCCTCCGGCACCGCCCAAAGGCTGGCCTAGGAGGTTCCAGCCCCCAGCGCCAGCCCACACTCACCGGCTGCAGCAGCCCCACCAGCCCCGCTCCTTCTCTCGGGTCGCACCCACACCGAGAGCTTCCGAAAGTCCGAGAGCTCTGCGGGTCCGACACGCCCGCGCGCCAGGGGGCGGGGCCGGCTGTCGCTCGACCTTTCACCCGCACGTCTCTGACGCCGCCGGAAGCCGGCGCCGAGTCTGTCACCGGGCATCCCTCTGTTGCCTTGACTACGGCGGGCGCTGTGGGAGTGGAGAAGCTGCAAGTGCTGAGGCGCGGTGGAGGAAAGCATGGGAGCCAAGAGTATGAGGAGCTGGTGTCTGTGTCAGATTTGTAGCTGCGGGTAAGAAACGGCTGGTGTAGCGGCGGGCCCGGGCTTGGGAGCCGACCTAGGGCCTAGGTGCACGGAGCCGGCTCCTCGGGAACCCTGAGAGTGGCCGTCCCCCGGAGATGAAGGGACGAGGGCGCAGCGACATCCCCACTTATCCCGCTCCGCGAATACTCGCTCCTCACCCGCCTGCTACCCGGGGGTAAAACGTTTGTTCGTAGCCCCTGAGACTCCCAATCAAGGATGCAAAGTAAAATGCCACCCGGGCCAGGTAAGTAATATATGTGAAGCCGCGACGGGATATAACGCTGGTGAGTAGTGGGATGTGATCCGACTGGGAGAGTGCATTTCCACCCCATAATCCCCCACCACGAAGATGAGAAAGAACAGTGCTCAAGGCCCTGAGTCTGCAACCCATATCACATTTTCTTTCATCTGTAGCTTTCTGTCCTCCCAGCCAGACCATATTCCCATTCCCGTCCAGGCAGCAGTTCTTTGGGATCCGCCTGACTGAAAAGTCAGTAAGTAGTCCCTACCCTGAAATCTAGAATCCAACTGTGAGTCCTGCCTAACAACCTTCCATCACCTGTAAACACAGTCCTCTCCTTCCTCAGCTTCACTATTGACCCAGGGATTAGATCATTATTTGCTAAGTAAATATGAACGTTGTCAATCCCTGGTGTATTTGTAATCCCATTCAAAGAAAACACCTACATGTTGATGGAAAGCAGTTTTTTTAATAGTCTCATAATAAACACAGTTCATAATTATATATAGATTAAAATATCAACAAATTAACTTTGGGTGTATGAATCCTCAG
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Task1_train_21781
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Gene RPS17 (ribosomal protein S17), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Diamond-Blackfan anemia
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GAAACGAGGTAGGGTCAAAATACCAATCAATGAGATTATCACTCACCTCTCCTCCTCCTCTCCCCAGGTTCTTAAATATGGGGAAGAGGAGCTGCACAAGGATAGCATTCCTCTCACAAGGTGAGCAGTCTCTTACAGTATTACAGACCCCGATGACCTGTTCTTCTGGCCTTACCTTCCCATGCCCTCATTCAGTATTCAGAACACTTGAAGTCTGTGTTTACACCAAAGAATACTATATTAGGGGCAAACAATCGAGCCACGACAGCAGTCATCAAATCAACATTAAGGGCTCTCATGAAATATGGAATAGACTTAACTGGTTCCAGAAGAGCAGAATGGAGGCTAAGAAACTGGTAGGGGGCCTATGGGCACCCACAGCTGGTTATGGAATGTATGGATTAAAGGTCTCAGATTCAGCTGAGGTCCCTTTGGAAGCCAAGAACCCATAGCTTTATCATTTGAGGATTAGCCAGAAGCCCAAATATCCAGAAAGTTTACCTCAGGAACATAATTGTCTCTCCTTTCTCTCTCCTCCTCCTGCAGCTTGATGGAGATACCTCTTACTGGGCCTCTCTGAATTCGCTTCATCAGATGCGTGACATAACTACAAAGCACACACAGCCAAAGAGAACAGTGAGAAGACAAATCAACTCCCACCTGGTACTGAGCACATGTGCATATATAAATACCCGCTTTAGTTCTTTTCCACAGTGAGAAGGAAGAGGACTCACTATCCTGGGACCTCCTACACATAGAACCTCCACTGGCCTGAGCATTCCTTCCCCTTGGTTTCTCACTCTCTATTCAAACTCTCCTTCATGATGATCAAGCGCCCCACCCCCAACTCGCCCCGCCCCGCCCCGCAGTTTCACGACCCTTCACAGCCTTCATTTTCTTCCAATTTCAAATTCACATAACTTGGCAATTAATACGTTGACTTTGGCACTATTCTTCCAGGCCATATGCCTATAAATCTCTCGAACAGTAACTGCAACTGTGAAGTAAGCATTAGAAGTTGACATCCAGCCGGGCGAGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGCGGGCGGATCGCTTGAGGTCAGGTGTTCGAGACCAGCCTGGTCAACATTGTGAAACCCTGTTGTCTACTAAAAATACAAAAATTAGCCGAGTGTGGTAGCACGTGCCTCTAATCCCAGCTACTGGGAAGGCTGAGGCATGACAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGCCAGGGCAAGATTCCGTCTCAAAAAAAAAAGAAAAAAAAGAAAGAAAAAAGTTGACAACTAAAAGCAACGTAGCTTCAAAGCAAGAGGTCTGACGGTGGCTACCTTCGACCCAGGGTCACCGCGGCCAGTCATGACACAGGCCTAAGTTCACAACAGAAATCCTGCACACGCAGAGCTCTAGCCCTTCTCCGGGACACCAGGGAGTCTCAGGCTAACGAAACCACCAAGGCACCGTCTCTTCCCGAGTCGGAGGGCGGCAGAGCACACAAACAGATCGCGGAGCCCCGGAGGCCGAGGAAGGCCCGACTCACCCTGCTATCTTGTTGCGGAGCTTTTTGCTGGGGATAATGGCGATCTCCTCGCACACGCGCTTGTTCGTGTGGAAGTCGTTGCCCAGGCGCGTGTAGTACTTTTCTATGATGACCCGGGCCGCCTTCTTCACGGTTTTGGTGCGAACGCGGCCCTGCGGGTGGAGAGGACAGGATCACTCACGAGCCAGCGCAACCTTCTGGGAAGAGTGCGGCGCCGAGCCCCGGCCGGTGTGGTTGGGGACCGCCGGCTGCGCTGAGCCGGAGAGGGCCCGGCTAAACAGTGCCGGGCGCCGGGCTTAATGCGGAAGCCGCCGGCCCGTTGCGCTCCAGCCTGACAGGGCTCTGCGCCTTCCCGGCCCAGGGCCTCTCTGTGGGCTGAGGACCGCGGGAAGCTGCAGATGGGGGACGATTGTGGAGGATGGCGGCCTCGAGCCAAAACACCTACCATGTTGGCGGGTCCTTGGTAAAAGAGGAAACAGGAAGCACAGGCGAAGCCTGTTAAAGCTTAGGCCAGAAAGCCGCTTCCGCCCGGCCACGGTCGCTCTGAGCCTACTCGGGAGCCACACAGCGCCCCCTGGCGGAGTGGAGCGGGGGCGGCGGTGGCGCGCCCCTCCGGTGGGCAGGGTGTCTGTCCCGCCCCCGACGGCTCCTCCCTTTCCGCTCCCCGCTCCCCTCGGTTGACTTGGGCTCGCTTCTCTCCCCCATCTGATTTTTAATGGGACCGCCCGTGCGATGTGCTCTAGCGTAGCGTCCATCTCTTCCACACACGCCAGGGAGAGGAGAAGCATCCGGTCCTCGGGAGGACCGAGAAAAGAAGGCGATCCAGGGCCGTGGAACAATGAGGAAGTGGGGGATGGCGGCCGCCCAGGTCCCCCACTCAGTCCGCGGGCCGGAGACTTGTCAGGTAGAGACAGGGTGCGACTGGGCGAGACGTATCTCATTTCTTCCGGGCCTTTGCTCAAATGTCGCCTTATCAGAGGGCTTTCCCTTCAAACTTAGGTAAAATAACTCCCTCACTATCCCTGCTTATATTTCCTAGCACTTGCCGTGTGATTCGGCTTATTTTTCTCAACTAGGGGTGAGCTCCATGACAGTAATGGTCATTTTGTTTAGCTAATTCCCAGTGCTTGAACAGCGCCTAGCACGTAACAACCTCTAACATTGACGTGAAGGGCCCAGCTCACCAGCAGAGCTCCCAACACCTCAGGTACCTTCTCCATCCACTATCTTCAGGCTGTTCCTGCCGCACCCATCCTCAAACCAGGGCCTTCCGAAGCCACCAGCGCAGGCTGCCCCGATGGGCCGCAGCCTAGGTAGGGCCCTGCCCCCTTCTTCCAACTCTGCTCCCTGGGCTGACAGCAATCCTAGGCTCCCACCTGACAGGGGAAGGCTGAGCTGGCCAGGCTGGATGAGTTAAGCCCAGGGCTGTGCCTCATTCCTCAACGCACCTTGGGTACTCCAGTCGGACTCTCAACTGATTGGGGATGGAAACCTGAAGGACAGGAAACCCTGGCAGCAAAAAGTACCAATGGGACAAAAGAAAAGGCCAGAATCTCAGAACTGCGGGAGCAAACTTCCAGTCAAGCTGCTGTCAGGCCCGAAGTGAAAGATCAGGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTTGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCCTGCTAATTTTTATATATATTTTTTTTTAGTAGAGATGGGGTTTTGCCATTTTGGCCAGGCTGGTCTCCAACTTCTGACCTCAGGTGATCCACCCGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATTGCACCCGGCCAGCCTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGTCCAGGCTTCAGTGAAGTGACATGGTAACAGCTCACTGCAGCCTCGATTTCCTGGGCTCACATGATCCTGCTGCCTCAGTCTCCCTAGTAGCTGGAACCACAGGCACACACCACCATGCCTTTTTTTTTTTTTGGTAGAAATGGGGTCTCCCATGTTGCTCAGGCTGGTCTCAAACCCCTGGGGCTCAAGCAATCCTCTTGCCTCAGCCTCCCACAGTGCTGATTGTAAGCGTGAGCCACTGTGCCCAGTCTGGCCTCTCCTTTATTTATTTATTTATTTAGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGGTCTTGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTGAGCCTCTTGGGTAGCTGGGATTAGAGGTGCCTGCAACTACCACCTGGCTAATTTTTTGTATTTTCAGTAGAGAAGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAAATCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAATGTGCTGG
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GAAACGAGGTAGGGTCAAAATACCAATCAATGAGATTATCACTCACCTCTCCTCCTCCTCTCCCCAGGTTCTTAAATATGGGGAAGAGGAGCTGCACAAGGATAGCATTCCTCTCACAAGGTGAGCAGTCTCTTACAGTATTACAGACCCCGATGACCTGTTCTTCTGGCCTTACCTTCCCATGCCCTCATTCAGTATTCAGAACACTTGAAGTCTGTGTTTACACCAAAGAATACTATATTAGGGGCAAACAATCGAGCCACGACAGCAGTCATCAAATCAACATTAAGGGCTCTCATGAAATATGGAATAGACTTAACTGGTTCCAGAAGAGCAGAATGGAGGCTAAGAAACTGGTAGGGGGCCTATGGGCACCCACAGCTGGTTATGGAATGTATGGATTAAAGGTCTCAGATTCAGCTGAGGTCCCTTTGGAAGCCAAGAACCCATAGCTTTATCATTTGAGGATTAGCCAGAAGCCCAAATATCCAGAAAGTTTACCTCAGGAACATAATTGTCTCTCCTTTCTCTCTCCTCCTCCTGCAGCTTGATGGAGATACCTCTTACTGGGCCTCTCTGAATTCGCTTCATCAGATGCGTGACATAACTACAAAGCACACACAGCCAAAGAGAACAGTGAGAAGACAAATCAACTCCCACCTGGTACTGAGCACATGTGCATATATAAATACCCGCTTTAGTTCTTTTCCACAGTGAGAAGGAAGAGGACTCACTATCCTGGGACCTCCTACACATAGAACCTCCACTGGCCTGAGCATTCCTTCCCCTTGGTTTCTCACTCTCTATTCAAACTCTCCTTCATGATGATCAAGCGCCCCACCCCCAACTCGCCCCGCCCCGCCCCGCAGTTTCACGACCCTTCACAGCCTTCATTTTCTTCCAATTTCAAATTCACATAACTTGGCAATTAATACGTTGACTTTGGCACTATTCTTCCAGGCCATATGCCTATAAATCTCTCGAACAGTAACTGCAACTGTGAAGTAAGCATTAGAAGTTGACATCCAGCCGGGCGAGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGCGGGCGGATCGCTTGAGGTCAGGTGTTCGAGACCAGCCTGGTCAACATTGTGAAACCCTGTTGTCTACTAAAAATACAAAAATTAGCCGAGTGTGGTAGCACGTGCCTCTAATCCCAGCTACTGGGAAGGCTGAGGCATGACAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGCCAGGGCAAGATTCCGTCTCAAAAAAAAAAGAAAAAAAAGAAAGAAAAAAGTTGACAACTAAAAGCAACGTAGCTTCAAAGCAAGAGGTCTGACGGTGGCTACCTTCGACCCAGGGTCACCGCGGCCAGTCATGACACAGGCCTAAGTTCACAACAGAAATCCTGCACACGCAGAGCTCTAGCCCTTCTCCGGGACACCAGGGAGTCTCAGGCTAACGAAACCACCAAGGCACCGTCTCTTCCCGAGTCGGAGGGCGGCAGAGCACACAAACAGATCGCGGAGCCCCGGAGGCCGAGGAAGGCCCGACTCACCCTGCTATCTTGTTGCGGAGCTTTTTGCTGGGGATAATGGCGATCTCCTCGCACACGCGCTTGTTCGTGTGGAAGTCGTTGCCCAGGCGCGTGTAGTACTTTTCTATGATGACCCGGGCCGCCTTCTTCACGGTTTTGGTGCGAACGCGGCCCTGCGGGTGGAGAGGACAGGATCACTCACGAGCCAGCGCAACCTTCTGGGAAGAGTGCGGCGCCGAGCCCCGGCCGGTGTGGTTGGGGACCGCCGGCTGCGCTGAGCCGGAGAGGGCCCGGCTAAACAGTGCCGGGCGCCGGGCTTAATGCGGAAGCCGCCGGCCCGTTGCGCTCCAGCCTGACAGGGCTCTGCGCCTTCCCGGCCCAGGGCCTCTCTGTGGGCTGAGGACCGCGGGAAGCTGCAGATGGGGGACGATTGTGGAGGATGGCGGCCTCGAGCCAAAACACCTACCCTGTTGGCGGGTCCTTGGTAAAAGAGGAAACAGGAAGCACAGGCGAAGCCTGTTAAAGCTTAGGCCAGAAAGCCGCTTCCGCCCGGCCACGGTCGCTCTGAGCCTACTCGGGAGCCACACAGCGCCCCCTGGCGGAGTGGAGCGGGGGCGGCGGTGGCGCGCCCCTCCGGTGGGCAGGGTGTCTGTCCCGCCCCCGACGGCTCCTCCCTTTCCGCTCCCCGCTCCCCTCGGTTGACTTGGGCTCGCTTCTCTCCCCCATCTGATTTTTAATGGGACCGCCCGTGCGATGTGCTCTAGCGTAGCGTCCATCTCTTCCACACACGCCAGGGAGAGGAGAAGCATCCGGTCCTCGGGAGGACCGAGAAAAGAAGGCGATCCAGGGCCGTGGAACAATGAGGAAGTGGGGGATGGCGGCCGCCCAGGTCCCCCACTCAGTCCGCGGGCCGGAGACTTGTCAGGTAGAGACAGGGTGCGACTGGGCGAGACGTATCTCATTTCTTCCGGGCCTTTGCTCAAATGTCGCCTTATCAGAGGGCTTTCCCTTCAAACTTAGGTAAAATAACTCCCTCACTATCCCTGCTTATATTTCCTAGCACTTGCCGTGTGATTCGGCTTATTTTTCTCAACTAGGGGTGAGCTCCATGACAGTAATGGTCATTTTGTTTAGCTAATTCCCAGTGCTTGAACAGCGCCTAGCACGTAACAACCTCTAACATTGACGTGAAGGGCCCAGCTCACCAGCAGAGCTCCCAACACCTCAGGTACCTTCTCCATCCACTATCTTCAGGCTGTTCCTGCCGCACCCATCCTCAAACCAGGGCCTTCCGAAGCCACCAGCGCAGGCTGCCCCGATGGGCCGCAGCCTAGGTAGGGCCCTGCCCCCTTCTTCCAACTCTGCTCCCTGGGCTGACAGCAATCCTAGGCTCCCACCTGACAGGGGAAGGCTGAGCTGGCCAGGCTGGATGAGTTAAGCCCAGGGCTGTGCCTCATTCCTCAACGCACCTTGGGTACTCCAGTCGGACTCTCAACTGATTGGGGATGGAAACCTGAAGGACAGGAAACCCTGGCAGCAAAAAGTACCAATGGGACAAAAGAAAAGGCCAGAATCTCAGAACTGCGGGAGCAAACTTCCAGTCAAGCTGCTGTCAGGCCCGAAGTGAAAGATCAGGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTTGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCCTGCTAATTTTTATATATATTTTTTTTTAGTAGAGATGGGGTTTTGCCATTTTGGCCAGGCTGGTCTCCAACTTCTGACCTCAGGTGATCCACCCGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATTGCACCCGGCCAGCCTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGTCCAGGCTTCAGTGAAGTGACATGGTAACAGCTCACTGCAGCCTCGATTTCCTGGGCTCACATGATCCTGCTGCCTCAGTCTCCCTAGTAGCTGGAACCACAGGCACACACCACCATGCCTTTTTTTTTTTTTGGTAGAAATGGGGTCTCCCATGTTGCTCAGGCTGGTCTCAAACCCCTGGGGCTCAAGCAATCCTCTTGCCTCAGCCTCCCACAGTGCTGATTGTAAGCGTGAGCCACTGTGCCCAGTCTGGCCTCTCCTTTATTTATTTATTTATTTAGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGGTCTTGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTGAGCCTCTTGGGTAGCTGGGATTAGAGGTGCCTGCAACTACCACCTGGCTAATTTTTTGTATTTTCAGTAGAGAAGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAAATCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAATGTGCTGG
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Task1_train_21782
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This mutation is located in gene RPS17 (ribosomal protein S17) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Diamond-Blackfan anemia
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AAACGAGGTAGGGTCAAAATACCAATCAATGAGATTATCACTCACCTCTCCTCCTCCTCTCCCCAGGTTCTTAAATATGGGGAAGAGGAGCTGCACAAGGATAGCATTCCTCTCACAAGGTGAGCAGTCTCTTACAGTATTACAGACCCCGATGACCTGTTCTTCTGGCCTTACCTTCCCATGCCCTCATTCAGTATTCAGAACACTTGAAGTCTGTGTTTACACCAAAGAATACTATATTAGGGGCAAACAATCGAGCCACGACAGCAGTCATCAAATCAACATTAAGGGCTCTCATGAAATATGGAATAGACTTAACTGGTTCCAGAAGAGCAGAATGGAGGCTAAGAAACTGGTAGGGGGCCTATGGGCACCCACAGCTGGTTATGGAATGTATGGATTAAAGGTCTCAGATTCAGCTGAGGTCCCTTTGGAAGCCAAGAACCCATAGCTTTATCATTTGAGGATTAGCCAGAAGCCCAAATATCCAGAAAGTTTACCTCAGGAACATAATTGTCTCTCCTTTCTCTCTCCTCCTCCTGCAGCTTGATGGAGATACCTCTTACTGGGCCTCTCTGAATTCGCTTCATCAGATGCGTGACATAACTACAAAGCACACACAGCCAAAGAGAACAGTGAGAAGACAAATCAACTCCCACCTGGTACTGAGCACATGTGCATATATAAATACCCGCTTTAGTTCTTTTCCACAGTGAGAAGGAAGAGGACTCACTATCCTGGGACCTCCTACACATAGAACCTCCACTGGCCTGAGCATTCCTTCCCCTTGGTTTCTCACTCTCTATTCAAACTCTCCTTCATGATGATCAAGCGCCCCACCCCCAACTCGCCCCGCCCCGCCCCGCAGTTTCACGACCCTTCACAGCCTTCATTTTCTTCCAATTTCAAATTCACATAACTTGGCAATTAATACGTTGACTTTGGCACTATTCTTCCAGGCCATATGCCTATAAATCTCTCGAACAGTAACTGCAACTGTGAAGTAAGCATTAGAAGTTGACATCCAGCCGGGCGAGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGCGGGCGGATCGCTTGAGGTCAGGTGTTCGAGACCAGCCTGGTCAACATTGTGAAACCCTGTTGTCTACTAAAAATACAAAAATTAGCCGAGTGTGGTAGCACGTGCCTCTAATCCCAGCTACTGGGAAGGCTGAGGCATGACAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGCCAGGGCAAGATTCCGTCTCAAAAAAAAAAGAAAAAAAAGAAAGAAAAAAGTTGACAACTAAAAGCAACGTAGCTTCAAAGCAAGAGGTCTGACGGTGGCTACCTTCGACCCAGGGTCACCGCGGCCAGTCATGACACAGGCCTAAGTTCACAACAGAAATCCTGCACACGCAGAGCTCTAGCCCTTCTCCGGGACACCAGGGAGTCTCAGGCTAACGAAACCACCAAGGCACCGTCTCTTCCCGAGTCGGAGGGCGGCAGAGCACACAAACAGATCGCGGAGCCCCGGAGGCCGAGGAAGGCCCGACTCACCCTGCTATCTTGTTGCGGAGCTTTTTGCTGGGGATAATGGCGATCTCCTCGCACACGCGCTTGTTCGTGTGGAAGTCGTTGCCCAGGCGCGTGTAGTACTTTTCTATGATGACCCGGGCCGCCTTCTTCACGGTTTTGGTGCGAACGCGGCCCTGCGGGTGGAGAGGACAGGATCACTCACGAGCCAGCGCAACCTTCTGGGAAGAGTGCGGCGCCGAGCCCCGGCCGGTGTGGTTGGGGACCGCCGGCTGCGCTGAGCCGGAGAGGGCCCGGCTAAACAGTGCCGGGCGCCGGGCTTAATGCGGAAGCCGCCGGCCCGTTGCGCTCCAGCCTGACAGGGCTCTGCGCCTTCCCGGCCCAGGGCCTCTCTGTGGGCTGAGGACCGCGGGAAGCTGCAGATGGGGGACGATTGTGGAGGATGGCGGCCTCGAGCCAAAACACCTACCATGTTGGCGGGTCCTTGGTAAAAGAGGAAACAGGAAGCACAGGCGAAGCCTGTTAAAGCTTAGGCCAGAAAGCCGCTTCCGCCCGGCCACGGTCGCTCTGAGCCTACTCGGGAGCCACACAGCGCCCCCTGGCGGAGTGGAGCGGGGGCGGCGGTGGCGCGCCCCTCCGGTGGGCAGGGTGTCTGTCCCGCCCCCGACGGCTCCTCCCTTTCCGCTCCCCGCTCCCCTCGGTTGACTTGGGCTCGCTTCTCTCCCCCATCTGATTTTTAATGGGACCGCCCGTGCGATGTGCTCTAGCGTAGCGTCCATCTCTTCCACACACGCCAGGGAGAGGAGAAGCATCCGGTCCTCGGGAGGACCGAGAAAAGAAGGCGATCCAGGGCCGTGGAACAATGAGGAAGTGGGGGATGGCGGCCGCCCAGGTCCCCCACTCAGTCCGCGGGCCGGAGACTTGTCAGGTAGAGACAGGGTGCGACTGGGCGAGACGTATCTCATTTCTTCCGGGCCTTTGCTCAAATGTCGCCTTATCAGAGGGCTTTCCCTTCAAACTTAGGTAAAATAACTCCCTCACTATCCCTGCTTATATTTCCTAGCACTTGCCGTGTGATTCGGCTTATTTTTCTCAACTAGGGGTGAGCTCCATGACAGTAATGGTCATTTTGTTTAGCTAATTCCCAGTGCTTGAACAGCGCCTAGCACGTAACAACCTCTAACATTGACGTGAAGGGCCCAGCTCACCAGCAGAGCTCCCAACACCTCAGGTACCTTCTCCATCCACTATCTTCAGGCTGTTCCTGCCGCACCCATCCTCAAACCAGGGCCTTCCGAAGCCACCAGCGCAGGCTGCCCCGATGGGCCGCAGCCTAGGTAGGGCCCTGCCCCCTTCTTCCAACTCTGCTCCCTGGGCTGACAGCAATCCTAGGCTCCCACCTGACAGGGGAAGGCTGAGCTGGCCAGGCTGGATGAGTTAAGCCCAGGGCTGTGCCTCATTCCTCAACGCACCTTGGGTACTCCAGTCGGACTCTCAACTGATTGGGGATGGAAACCTGAAGGACAGGAAACCCTGGCAGCAAAAAGTACCAATGGGACAAAAGAAAAGGCCAGAATCTCAGAACTGCGGGAGCAAACTTCCAGTCAAGCTGCTGTCAGGCCCGAAGTGAAAGATCAGGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTTGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCCTGCTAATTTTTATATATATTTTTTTTTAGTAGAGATGGGGTTTTGCCATTTTGGCCAGGCTGGTCTCCAACTTCTGACCTCAGGTGATCCACCCGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATTGCACCCGGCCAGCCTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGTCCAGGCTTCAGTGAAGTGACATGGTAACAGCTCACTGCAGCCTCGATTTCCTGGGCTCACATGATCCTGCTGCCTCAGTCTCCCTAGTAGCTGGAACCACAGGCACACACCACCATGCCTTTTTTTTTTTTTGGTAGAAATGGGGTCTCCCATGTTGCTCAGGCTGGTCTCAAACCCCTGGGGCTCAAGCAATCCTCTTGCCTCAGCCTCCCACAGTGCTGATTGTAAGCGTGAGCCACTGTGCCCAGTCTGGCCTCTCCTTTATTTATTTATTTATTTAGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGGTCTTGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTGAGCCTCTTGGGTAGCTGGGATTAGAGGTGCCTGCAACTACCACCTGGCTAATTTTTTGTATTTTCAGTAGAGAAGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAAATCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAATGTGCTGGG
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AAACGAGGTAGGGTCAAAATACCAATCAATGAGATTATCACTCACCTCTCCTCCTCCTCTCCCCAGGTTCTTAAATATGGGGAAGAGGAGCTGCACAAGGATAGCATTCCTCTCACAAGGTGAGCAGTCTCTTACAGTATTACAGACCCCGATGACCTGTTCTTCTGGCCTTACCTTCCCATGCCCTCATTCAGTATTCAGAACACTTGAAGTCTGTGTTTACACCAAAGAATACTATATTAGGGGCAAACAATCGAGCCACGACAGCAGTCATCAAATCAACATTAAGGGCTCTCATGAAATATGGAATAGACTTAACTGGTTCCAGAAGAGCAGAATGGAGGCTAAGAAACTGGTAGGGGGCCTATGGGCACCCACAGCTGGTTATGGAATGTATGGATTAAAGGTCTCAGATTCAGCTGAGGTCCCTTTGGAAGCCAAGAACCCATAGCTTTATCATTTGAGGATTAGCCAGAAGCCCAAATATCCAGAAAGTTTACCTCAGGAACATAATTGTCTCTCCTTTCTCTCTCCTCCTCCTGCAGCTTGATGGAGATACCTCTTACTGGGCCTCTCTGAATTCGCTTCATCAGATGCGTGACATAACTACAAAGCACACACAGCCAAAGAGAACAGTGAGAAGACAAATCAACTCCCACCTGGTACTGAGCACATGTGCATATATAAATACCCGCTTTAGTTCTTTTCCACAGTGAGAAGGAAGAGGACTCACTATCCTGGGACCTCCTACACATAGAACCTCCACTGGCCTGAGCATTCCTTCCCCTTGGTTTCTCACTCTCTATTCAAACTCTCCTTCATGATGATCAAGCGCCCCACCCCCAACTCGCCCCGCCCCGCCCCGCAGTTTCACGACCCTTCACAGCCTTCATTTTCTTCCAATTTCAAATTCACATAACTTGGCAATTAATACGTTGACTTTGGCACTATTCTTCCAGGCCATATGCCTATAAATCTCTCGAACAGTAACTGCAACTGTGAAGTAAGCATTAGAAGTTGACATCCAGCCGGGCGAGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGCGGGCGGATCGCTTGAGGTCAGGTGTTCGAGACCAGCCTGGTCAACATTGTGAAACCCTGTTGTCTACTAAAAATACAAAAATTAGCCGAGTGTGGTAGCACGTGCCTCTAATCCCAGCTACTGGGAAGGCTGAGGCATGACAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGCCAGGGCAAGATTCCGTCTCAAAAAAAAAAGAAAAAAAAGAAAGAAAAAAGTTGACAACTAAAAGCAACGTAGCTTCAAAGCAAGAGGTCTGACGGTGGCTACCTTCGACCCAGGGTCACCGCGGCCAGTCATGACACAGGCCTAAGTTCACAACAGAAATCCTGCACACGCAGAGCTCTAGCCCTTCTCCGGGACACCAGGGAGTCTCAGGCTAACGAAACCACCAAGGCACCGTCTCTTCCCGAGTCGGAGGGCGGCAGAGCACACAAACAGATCGCGGAGCCCCGGAGGCCGAGGAAGGCCCGACTCACCCTGCTATCTTGTTGCGGAGCTTTTTGCTGGGGATAATGGCGATCTCCTCGCACACGCGCTTGTTCGTGTGGAAGTCGTTGCCCAGGCGCGTGTAGTACTTTTCTATGATGACCCGGGCCGCCTTCTTCACGGTTTTGGTGCGAACGCGGCCCTGCGGGTGGAGAGGACAGGATCACTCACGAGCCAGCGCAACCTTCTGGGAAGAGTGCGGCGCCGAGCCCCGGCCGGTGTGGTTGGGGACCGCCGGCTGCGCTGAGCCGGAGAGGGCCCGGCTAAACAGTGCCGGGCGCCGGGCTTAATGCGGAAGCCGCCGGCCCGTTGCGCTCCAGCCTGACAGGGCTCTGCGCCTTCCCGGCCCAGGGCCTCTCTGTGGGCTGAGGACCGCGGGAAGCTGCAGATGGGGGACGATTGTGGAGGATGGCGGCCTCGAGCCAAAACACCTACCACGTTGGCGGGTCCTTGGTAAAAGAGGAAACAGGAAGCACAGGCGAAGCCTGTTAAAGCTTAGGCCAGAAAGCCGCTTCCGCCCGGCCACGGTCGCTCTGAGCCTACTCGGGAGCCACACAGCGCCCCCTGGCGGAGTGGAGCGGGGGCGGCGGTGGCGCGCCCCTCCGGTGGGCAGGGTGTCTGTCCCGCCCCCGACGGCTCCTCCCTTTCCGCTCCCCGCTCCCCTCGGTTGACTTGGGCTCGCTTCTCTCCCCCATCTGATTTTTAATGGGACCGCCCGTGCGATGTGCTCTAGCGTAGCGTCCATCTCTTCCACACACGCCAGGGAGAGGAGAAGCATCCGGTCCTCGGGAGGACCGAGAAAAGAAGGCGATCCAGGGCCGTGGAACAATGAGGAAGTGGGGGATGGCGGCCGCCCAGGTCCCCCACTCAGTCCGCGGGCCGGAGACTTGTCAGGTAGAGACAGGGTGCGACTGGGCGAGACGTATCTCATTTCTTCCGGGCCTTTGCTCAAATGTCGCCTTATCAGAGGGCTTTCCCTTCAAACTTAGGTAAAATAACTCCCTCACTATCCCTGCTTATATTTCCTAGCACTTGCCGTGTGATTCGGCTTATTTTTCTCAACTAGGGGTGAGCTCCATGACAGTAATGGTCATTTTGTTTAGCTAATTCCCAGTGCTTGAACAGCGCCTAGCACGTAACAACCTCTAACATTGACGTGAAGGGCCCAGCTCACCAGCAGAGCTCCCAACACCTCAGGTACCTTCTCCATCCACTATCTTCAGGCTGTTCCTGCCGCACCCATCCTCAAACCAGGGCCTTCCGAAGCCACCAGCGCAGGCTGCCCCGATGGGCCGCAGCCTAGGTAGGGCCCTGCCCCCTTCTTCCAACTCTGCTCCCTGGGCTGACAGCAATCCTAGGCTCCCACCTGACAGGGGAAGGCTGAGCTGGCCAGGCTGGATGAGTTAAGCCCAGGGCTGTGCCTCATTCCTCAACGCACCTTGGGTACTCCAGTCGGACTCTCAACTGATTGGGGATGGAAACCTGAAGGACAGGAAACCCTGGCAGCAAAAAGTACCAATGGGACAAAAGAAAAGGCCAGAATCTCAGAACTGCGGGAGCAAACTTCCAGTCAAGCTGCTGTCAGGCCCGAAGTGAAAGATCAGGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTTGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCCTGCTAATTTTTATATATATTTTTTTTTAGTAGAGATGGGGTTTTGCCATTTTGGCCAGGCTGGTCTCCAACTTCTGACCTCAGGTGATCCACCCGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATTGCACCCGGCCAGCCTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGTCCAGGCTTCAGTGAAGTGACATGGTAACAGCTCACTGCAGCCTCGATTTCCTGGGCTCACATGATCCTGCTGCCTCAGTCTCCCTAGTAGCTGGAACCACAGGCACACACCACCATGCCTTTTTTTTTTTTTGGTAGAAATGGGGTCTCCCATGTTGCTCAGGCTGGTCTCAAACCCCTGGGGCTCAAGCAATCCTCTTGCCTCAGCCTCCCACAGTGCTGATTGTAAGCGTGAGCCACTGTGCCCAGTCTGGCCTCTCCTTTATTTATTTATTTATTTAGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGGTCTTGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTGAGCCTCTTGGGTAGCTGGGATTAGAGGTGCCTGCAACTACCACCTGGCTAATTTTTTGTATTTTCAGTAGAGAAGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAAATCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAATGTGCTGGG
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Task1_train_21783
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The variant affects gene HOMER2 (homer scaffold protein 2), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 68
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TTTAAGCCAGCAGGGTAGAAAAATCAAGCAACCTCATGGTACAGTGGCTGCCGAAAAGGGAAGCAATGACATTTCGAATATTATAAATCAAGGTGACCTTCCCCTGGGAATGCACGTGGAAGGGGCCTGGCCTGTGGGCCTCTTCCCCAAGGCTGAATGGCAAATCCCTACACCGCATCTTTCCCTTTCCAAGGCTGACCCCTCAAAACAGTTACCTGTGTGGAACAGGGGTGCAAGGGCTTGGCACTCTCACACTGCCATTGAATGCTGGGGGCCAAAATGTGTGTGCAGAGTGGACAGCAGGCGTGGACCCCACATGCAACACAAAAGCACTGTAGTGAAGTCCCCCCGAACAGGCAGCAGCAGTCCTTGACATGAAGGGCACCGAGGACACTTCCCAGAGGCAGGCTGCACCAAGCCTTGGGGTCTGAACTCCCAGCCCCTGCTGCTGCTGGAAACCACACCAACTTCCGCCTCCAACCCTGGGAGGCAAGCTTGTGAGATGTCGACTCAGGGAGGTCGACACGCCTCCAAGGGAGCGAGTTGTGCGTGATGCTCTTCCTCCACTCCCCCCGCACTGCTGCTGGCTATCAGACTGAGACCAAAGTGAGAAACTCAGCTCTTTTCTTGAAAATGCAAGAAAGGGCAATCGATCCCTCTGGCAGGCAGATCTGCCAGGCCTCGGGTGGGAACGTGCAAAGTCAGCAATTGGCCTGGTGCCCAACCGTCAGCACCAAGATGAAAAAATGACACGAGACACTTTTATGTGGCATTAGCATGAAAGTAAGACAGTGTGACAGAGGGCTGGGATGCAGGGGCCCTCCAGGTCGGGCAGGGCAGGGGAGAAAAGGGGGTCAAGGGGGAGTGAACACCAATCTAAATGGGACCTGTCCCCCTAAAACCCTGCACTGACGGAGCATACTCCAAAGCCTATGTGTTTCTAGTGGGAGGATTAACCATGATCAAAACAAGGTTAGCAGAGAAACCTCAAGACCTCAATGGGGGGTCTCTGGCCACCCCAAAAGCACCTTATGAACTAGAGTGTGACTAATGACAGGGAAGGTTACAGGTGCATTTTCAAACAAATCAAAATGCCAGGATGTCAAGGTCGGAGAGTAGAGGGCGTACAACAGGTCAGCACCTGTTTACCCTCCTCACGCCTCAAGCACCATAATCCTTTTCTCAACTCCAAATTTACATGTTTAGAAACAATAATGTGAATGGAAGCAGGACTTCCAAGCAGGCGCAACTCACCATCTCCCAAGTCTGTTTCTCACCTACCCTCTGGGTCCCCTTCCTCCACGGAGGGTCACTGAACCACAGAAATGCTGAGGGAGGGCACTCTGAGAGAGACAGGGCTGACACCTCCAGTTTATCTTCTCCTCAGTAAGAGGAATTATAAAACTTGGTTCAGAAAAGGTAACGAGTCTGGCCAGGCACAGTGGTTCACGCCTGTAATCCTGGCACTTCAGGAGGCTGAGGCGGGTGTATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCGCCTCTAATCCCAGCTACTTCGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGACAGGAGGCTGCAGTGCACTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAGAAAGAAAATAAAACCAGAAAAGGTAATGAGTCAATTATGTACGTGGTTAAATTCCTACTAAGAAAGGCAGGGAGGGGGAGGGACGTTCCCATGGGAGAGGCAGCAAGTCTTCCTCTGGCCATGGGGATAAGGGCAAAGTTGGGGAGGGAGAAAAAGGGTTGTGGGTGCCCCCATCTCCCACTGCCCACACCAGCTGGCCTCGGGGCTCACTGCATCCACCGTACCCACCTTGTTGCGGAGCCGGTCATTCTCATCACGGCAGATGGAGAACTGCCTCTTCCACTGCTCCACACTGGCTGCCGACTCCTGCAGTGCTGTGGTCAGCCGTGCATTGCTCTCCCGAAGGGTCTGCAGCTCGATCTCCCACTTCTTCACGTTGGCTGCGCTGCAGGACAGGGACGGGCGGTGACGACGGGGTGGGTGCTGTCCCGTCTGGCTCCGCCCGCGTGGGGAAGGGGACTCCGCCATCCCTCAGCACACCCCTGGGGGGCCCACGCCCTCTCCCCACAGTAAGCTGGCAGGTGGGTCTGGCTACCCTGATCCAGGGCCAGGAGGGACTGGCCCCTCTCTCTGGTGTGAACATGTCATCCTGTGGTCTATCTTCTTAAAGAATCACCTTAGAAGAGAACACAATTCTTGGGCCGGACGCAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCACTAGGTCAAGAAATCGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCTACTAAAAATACAAAAAAATGGTGGCGGGCGCCTGCAGTCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCGGCCTGGCGACAGAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAAAACACAATTCTTCACGAATGAAGAGACAAAGCTAGGCATGAGGGCTGCAGGGCGGGCAAGGCCCATCCCATCCTCCTTACTGGCCGCCCTGCTTCCTCCTGAAAGGAGTTTCATGGGTGGACCGGGTGACCTTCAAGAATCGTATGAAAGCCATGGACGGACCTCCAGGACGCTGGGTTTAAACAAGCAAGAAGCCAACAGCTTGGCTCCGGGGAATAATGGTCCCACTGTAACCTGTGCCTTCTCAGAGCCTTTGAAGGAATCCAGATCTGAGGGCCTAGGGCTTGGAGACAGGAGAGAGTGACCAGGAATCAGTGCCCTGGGGGCACAACAGGGGTCTGGAGGGAGCTCTGGCTGGCCCATATCCCCCCGGGGTGTGAGGAGACCAGGAATCTGAGGGACACCTCTGCTGTCACCACAAAGGCCTCATGTTTCATCTGATTCTACATGCTTGGTGAGGAGGACGTTTAAAACAAAACCAAACTGGAATCAGGTTCCCCTCATTGTTCTCTTCTGACCCTCCTTCAATTTCCTTGCTAGGAGCCCACACATCTGTGGCGCTGAATGTGACTGGAGGTGACAGGGCAGAGCTGCACGTGACAAGCCCATGGGGAGGTTTCCGCCTGGCTAAGTCCTCTTTCTAAAGGCTCTTCCTAATTTTTTTAAGTAAATACAATGGTGTGTCTGAATAGATCTGTGTTATCTTTTATCCCACAACCTCAAGGACCTCGAGGACTTGGAAAATATGTACTTTCACTTTCAAACACCACTGACTGAAGAAATAATAAAATGTTATTATCTGGTGAATTCTAGAGTTGATGACTGACAATTTAAGCTAATTTAGGGAAATAGCTTCCTGCCCATTCTTGTAGTACCTCACTTGCTCATTAAACTCAGATTTGAAAACATTTATTTTTAGGGGTGAAACATTTTCACCCAGGCAGCCCACTGTGACTTAAACAACCAAAAACAGCTCTCAGTTGGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGAAGGGAGGATAACTTGATAAGCCCAGGAGTTTGGGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAATAAAAATCAGCCAGGTGTGGTAGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGGGGGATCAGTCGAGCCCAGGAGTTCAAGGCTGTAGTAAGCTATGATGACACCACTGCACTACAGCTGGGATCACAGAGACTCTGCCTCAAAAAACAAATAAATAAATAAATAAATAAAGCTCTCACAATTGTCTGATGAGTAAGAAAAGAGACTGGTCACAGTTCTGTCCTTTGAAGTACCTGACAAAGAGTCACAGTCCAAAGGCAGGGGGTTGGATCTAAGGGTCACATGTGCTTTCTGGAATTCCTAGGTCAGATCACA
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TTTAAGCCAGCAGGGTAGAAAAATCAAGCAACCTCATGGTACAGTGGCTGCCGAAAAGGGAAGCAATGACATTTCGAATATTATAAATCAAGGTGACCTTCCCCTGGGAATGCACGTGGAAGGGGCCTGGCCTGTGGGCCTCTTCCCCAAGGCTGAATGGCAAATCCCTACACCGCATCTTTCCCTTTCCAAGGCTGACCCCTCAAAACAGTTACCTGTGTGGAACAGGGGTGCAAGGGCTTGGCACTCTCACACTGCCATTGAATGCTGGGGGCCAAAATGTGTGTGCAGAGTGGACAGCAGGCGTGGACCCCACATGCAACACAAAAGCACTGTAGTGAAGTCCCCCCGAACAGGCAGCAGCAGTCCTTGACATGAAGGGCACCGAGGACACTTCCCAGAGGCAGGCTGCACCAAGCCTTGGGGTCTGAACTCCCAGCCCCTGCTGCTGCTGGAAACCACACCAACTTCCGCCTCCAACCCTGGGAGGCAAGCTTGTGAGATGTCGACTCAGGGAGGTCGACACGCCTCCAAGGGAGCGAGTTGTGCGTGATGCTCTTCCTCCACTCCCCCCGCACTGCTGCTGGCTATCAGACTGAGACCAAAGTGAGAAACTCAGCTCTTTTCTTGAAAATGCAAGAAAGGGCAATCGATCCCTCTGGCAGGCAGATCTGCCAGGCCTCGGGTGGGAACGTGCAAAGTCAGCAATTGGCCTGGTGCCCAACCGTCAGCACCAAGATGAAAAAATGACACGAGACACTTTTATGTGGCATTAGCATGAAAGTAAGACAGTGTGACAGAGGGCTGGGATGCAGGGGCCCTCCAGGTCGGGCAGGGCAGGGGAGAAAAGGGGGTCAAGGGGGAGTGAACACCAATCTAAATGGGACCTGTCCCCCTAAAACCCTGCACTGACGGAGCATACTCCAAAGCCTATGTGTTTCTAGTGGGAGGATTAACCATGATCAAAACAAGGTTAGCAGAGAAACCTCAAGACCTCAATGGGGGGTCTCTGGCCACCCCAAAAGCACCTTATGAACTAGAGTGTGACTAATGACAGGGAAGGTTACAGGTGCATTTTCAAACAAATCAAAATGCCAGGATGTCAAGGTCGGAGAGTAGAGGGCGTACAACAGGTCAGCACCTGTTTACCCTCCTCACGCCTCAAGCACCATAATCCTTTTCTCAACTCCAAATTTACATGTTTAGAAACAATAATGTGAATGGAAGCAGGACTTCCAAGCAGGCGCAACTCACCATCTCCCAAGTCTGTTTCTCACCTACCCTCTGGGTCCCCTTCCTCCACGGAGGGTCACTGAACCACAGAAATGCTGAGGGAGGGCACTCTGAGAGAGACAGGGCTGACACCTCCAGTTTATCTTCTCCTCAGTAAGAGGAATTATAAAACTTGGTTCAGAAAAGGTAACGAGTCTGGCCAGGCACAGTGGTTCACGCCTGTAATCCTGGCACTTCAGGAGGCTGAGGCGGGTGTATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCGCCTCTAATCCCAGCTACTTCGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGACAGGAGGCTGCAGTGCACTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAGAAAGAAAATAAAACCAGAAAAGGTAATGAGTCAATTATGTACGTGGTTAAATTCCTACTAAGAAAGGCAGGGAGGGGGAGGGACGTTCCCATGGGAGAGGCAGCAAGTCTTCCTCTGGCCATGGGGATAAGGGCAAAGTTGGGGAGGGAGAAAAAGGGTTGTGGGTGCCCCCATCTCCCACTGCCCACACCAGCTGGCCTCGGGGCTCACTGCATCCACCGTACCCACCTTGTTGCGGAGCCGGTCATTCTCATCACGGCAGATGGAGAACTGCCTCTTCCACTGCTCCACACTGGCTGCCGACTCCTGCAGTGCTGTGGTCAGCGGTGCATTGCTCTCCCGAAGGGTCTGCAGCTCGATCTCCCACTTCTTCACGTTGGCTGCGCTGCAGGACAGGGACGGGCGGTGACGACGGGGTGGGTGCTGTCCCGTCTGGCTCCGCCCGCGTGGGGAAGGGGACTCCGCCATCCCTCAGCACACCCCTGGGGGGCCCACGCCCTCTCCCCACAGTAAGCTGGCAGGTGGGTCTGGCTACCCTGATCCAGGGCCAGGAGGGACTGGCCCCTCTCTCTGGTGTGAACATGTCATCCTGTGGTCTATCTTCTTAAAGAATCACCTTAGAAGAGAACACAATTCTTGGGCCGGACGCAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCGGGCGGATCACTAGGTCAAGAAATCGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCTACTAAAAATACAAAAAAATGGTGGCGGGCGCCTGCAGTCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCGGCCTGGCGACAGAGCGAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAAAACACAATTCTTCACGAATGAAGAGACAAAGCTAGGCATGAGGGCTGCAGGGCGGGCAAGGCCCATCCCATCCTCCTTACTGGCCGCCCTGCTTCCTCCTGAAAGGAGTTTCATGGGTGGACCGGGTGACCTTCAAGAATCGTATGAAAGCCATGGACGGACCTCCAGGACGCTGGGTTTAAACAAGCAAGAAGCCAACAGCTTGGCTCCGGGGAATAATGGTCCCACTGTAACCTGTGCCTTCTCAGAGCCTTTGAAGGAATCCAGATCTGAGGGCCTAGGGCTTGGAGACAGGAGAGAGTGACCAGGAATCAGTGCCCTGGGGGCACAACAGGGGTCTGGAGGGAGCTCTGGCTGGCCCATATCCCCCCGGGGTGTGAGGAGACCAGGAATCTGAGGGACACCTCTGCTGTCACCACAAAGGCCTCATGTTTCATCTGATTCTACATGCTTGGTGAGGAGGACGTTTAAAACAAAACCAAACTGGAATCAGGTTCCCCTCATTGTTCTCTTCTGACCCTCCTTCAATTTCCTTGCTAGGAGCCCACACATCTGTGGCGCTGAATGTGACTGGAGGTGACAGGGCAGAGCTGCACGTGACAAGCCCATGGGGAGGTTTCCGCCTGGCTAAGTCCTCTTTCTAAAGGCTCTTCCTAATTTTTTTAAGTAAATACAATGGTGTGTCTGAATAGATCTGTGTTATCTTTTATCCCACAACCTCAAGGACCTCGAGGACTTGGAAAATATGTACTTTCACTTTCAAACACCACTGACTGAAGAAATAATAAAATGTTATTATCTGGTGAATTCTAGAGTTGATGACTGACAATTTAAGCTAATTTAGGGAAATAGCTTCCTGCCCATTCTTGTAGTACCTCACTTGCTCATTAAACTCAGATTTGAAAACATTTATTTTTAGGGGTGAAACATTTTCACCCAGGCAGCCCACTGTGACTTAAACAACCAAAAACAGCTCTCAGTTGGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGAAGGGAGGATAACTTGATAAGCCCAGGAGTTTGGGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACAAAAATAAAAATAAAAATCAGCCAGGTGTGGTAGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGGGGGATCAGTCGAGCCCAGGAGTTCAAGGCTGTAGTAAGCTATGATGACACCACTGCACTACAGCTGGGATCACAGAGACTCTGCCTCAAAAAACAAATAAATAAATAAATAAATAAAGCTCTCACAATTGTCTGATGAGTAAGAAAAGAGACTGGTCACAGTTCTGTCCTTTGAAGTACCTGACAAAGAGTCACAGTCCAAAGGCAGGGGGTTGGATCTAAGGGTCACATGTGCTTTCTGGAATTCCTAGGTCAGATCACA
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Task1_train_21784
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The gene WDR73 (WD repeat domain 73) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Galloway-Mowat syndrome 1
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TTTATTTTTTTTGAGATGGAGTCTCACCCTGTCACCCAGGCTGGAATGCAGTGGCACAATCTCGGTTCACTGCAGCCTCTACCTCTCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGTGGGGATTACAGGTGTGCCACCACCATGCCCGTCTCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCCCCCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGTCTATCTTTAAATTCCTATCTGAATTTGTTTAGGTTTTTTAAATAAAAATCTTTCTTTTTTTTTAGAGACAGGGGTTCACCATGGTGCCCAGGCTGATCTCGAACTCCTCCTGGACTCAAGCTATCCTCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGACATGAGCCACATGCTTGACCTGAATTTTAACTGCAGTTAATTATCACTTAACCAGCGAATTCACACAGGAGAAATCCCCTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCTCTTCGGGAGGCCGAGGTGGGTAGATCACAAGGTCAAGAGATCAAGACCATTCTGGCCAACATGGTGAAACTCCGTCTGTACCAAAAATACAAAAATTACCTGGGCATGGTGGTACGTGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGCATTGCTTGAACCCATGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCAAGCCTGGGTGACAGAGCAAGACTCCATCTCTACTACAAAAAAAAAAAAAAAAAAAATTCAACCACCTTAGGAAGCCTCTCATTTATGTATTTCTAGCATGTAATTAGTGTTGCACATGGGAAGGGCTAATAGATGCTGACAGAGTGAACAACTTATCTATTTTGTGTGTGTGTGTGTAACAGGGTCTCATTCTGTTGCCCAGGCTGGAATACAGTGGCATGATCACAGCTCACTGCAAACTTCAACTGCCAGGCTCAGGCAACCCTCCCACCTCAGCCTCTTGAATAGCTGGGACTGCAGGCTCATACCACCACAACCAGCTAACTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGCTCAGGCTAGTCTCGAACTCCTGGACTCAAGTGATCCACCTGTCTTGGCTGCCTACATTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAAATTTTTTTTTTTTTTTAAGGGAAGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTCAGCTCAAGCAATCTGCCCACCTCAGCCTCTGAAAGTGCTGGGATTACAGGCATGAGCCACCATGTCCAGCACACTTTAATATTCACTATGGGCCCTCAAAAGGAAATGTTTGTGGGGCCACCAAAAGCAAATGTCTCTTGAACCTAGTCACCTGGGGGGACAAGTGTGGGAAAGTGCACCTGTGTTCCCATGAGACCCACTCAAGAGGAGCAGAAATCCTGTTTTGCTATTTCCTTAATTGCTACTAGGGCTGGGATTTTTTCATGTTTATTGGCCCCTCTACATTTTTTTCTTTAAAAAAATTCACAAAGCATGTTTATATTTGTTAGCTCTTTTGATTCTCCCTATGATAGTGTGAAGACAGGGACAAAACGCTACCATTTCACACTCCCAGATCTAACAATAGCTACCAAGTAATTATGCCATGCGTTTCTTCTAACCTTCGCAATATCACTACGAGGTAGTTCTTACTATCCTCATTTTACAGATAAGGAAACTGAGGCTAAGTGACGCTGGCAGACTTGCCCAAGGCCACACAGCTGGTAACAGGGACTGGTAGTCACTTGAGTCCTACATGAGCACCCTTGCTACTACAGCAGCTCCTCCCCTTTCTAGAGGCCTAGATGGAAAGATGCTGGTGTCAGCGGGGGGCACAAAGGTCCACCCAGTCCCACACATGCAGAGAGGCATCATTTGTTGCTGATAACAAAGTCCTTGGTCTGCAGGGATGCCAGGTGTGGGTGGTGACCAAAGGAGCAGGGTCCATCCCATTTCCATCTAGGAAGATGTGACCTCTGTGAGTGAAGAGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCGTGTTCCATCCCAAGATGTGGCATCATAGACCTGGACTGTACCATCAAAACCTGAGAATACAGAAAAGAGAGGCTTGACAATGAGTCCCTAATTTTATTTTAAAATAATTTTCTTTCTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGATGGTCTTGAACTCCTAGCCTCAAGCGATCCTCCCATCTCAGCCTCCCAAAATGCTGGGATTACAGGCACCCAGCCCCTAAAATACTTTTTATAATTTGTTCTATGGTACCAAAACAGGCTATTGGATGAGGAATCAAGGCACTTAAAAGGCTAACCACGGGCAAGTAGCATCTGCCCTCAGTGTTGGCAGCTGATGACTCCGTGGGGCATGTAACCATGAGCATCCGTTGTGCACCTGTTATGCGTGAGGCTCGAAGGCTAATTCTGGACAAGTATTAGCTCTTTTAATCCTCAGAACTGTATGACACAGATACTGTTATTTTACCCAGGAAACTGAGGCTTAAGAGACTTCTTCAAACCTTTTCAAGTTGCCCCAGAGTCCAGTCCCCTACCTCTGGGTCCCTTTCAGCAGATGGCCTTGTCTCCTACTCGATGGGGGAAACAGAAGCCTTTGGAGAGAAATACCTTCACGTCCCTGCACGATCTAGCTGCACACACACTCATTCCATCCTGCCATCTTCCTGGTACTGAAGAGCCAGCCCCTCTACCTGAGCTTGGCTCTTCTGTTCTTTCTGGATCCTGGCATTTCCAATCATCCTTTCTTGCTCTCTTAATGATTTTTTTCAACCCCCACCTGCCTCGACGGATCCTTCCTGTTGGCTTTTAGATACCCACATTAAGTGCCGCAAGCAACTAGCTACCACCAGACCAGAACCAGGGGCCTGCTGACCTAGCTGGCTTGCTACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGTCTGGAGTGCAGTGGCGTCATCTCAGCTCACTGCAACCTCTGACTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGGTGGGACTACAGGCGTGCACCAAAACACCCGGCTAATTTTTTTTATTTTCATAGAGACGGGGTTTCACCATGTTGGCCACGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGACCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCACCCGGCCAACTTGCTACATTTCAAAAGGCAAGTAGGCTGAGAAGTACCCTTGAGGTGCTGTCCCTGCTGCTTTTTTTTTTTTTTTCTTTTTTTTTCTTTTTGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTTCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCACTGTCCCCTTTTCTTTCTGACCCAGCCCGATGTCTGTCCCAGTGTCTTACTGTCTGCAGGCCCCTCCACCAACCTGAGACCTGAATTCCTGCTAGGCTAGGAAAGGCCTGCTGCCAATGTGTGGAAGTTTAGTAGCCAGGGTAGGAAAAGGCCTGCCACTGAAGAACCTGGAGAGTTCGAATTTCTCTGTGAGCAACTTTAACTCCTGGAGCCAGGTTTATCATGGTGCTGGAGGCTCCTTCCTGAGCACCCAACAGTCTCCTGGAAGAAAGAGATCAGATAACAAGACGAAATCCTGCTCGGCAGTACCTGAGATGGCCAAGCAATTCTTCAGGCCTGGGGCCCAAGTCACTCGCAGCAGCTCTGGGTCAGGGCTAGGTACGGATACTGGGCACTGGACTGAGCTCACAGGATGGCAGAGATCCCGGGGGTCAAGAAGACAAAGACGCCCATC
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TTTATTTTTTTTGAGATGGAGTCTCACCCTGTCACCCAGGCTGGAATGCAGTGGCACAATCTCGGTTCACTGCAGCCTCTACCTCTCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGTGGGGATTACAGGTGTGCCACCACCATGCCCGTCTCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCCCCCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGTCTATCTTTAAATTCCTATCTGAATTTGTTTAGGTTTTTTAAATAAAAATCTTTCTTTTTTTTTAGAGACAGGGGTTCACCATGGTGCCCAGGCTGATCTCGAACTCCTCCTGGACTCAAGCTATCCTCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGACATGAGCCACATGCTTGACCTGAATTTTAACTGCAGTTAATTATCACTTAACCAGCGAATTCACACAGGAGAAATCCCCTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCTCTTCGGGAGGCCGAGGTGGGTAGATCACAAGGTCAAGAGATCAAGACCATTCTGGCCAACATGGTGAAACTCCGTCTGTACCAAAAATACAAAAATTACCTGGGCATGGTGGTACGTGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGCATTGCTTGAACCCATGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCAAGCCTGGGTGACAGAGCAAGACTCCATCTCTACTACAAAAAAAAAAAAAAAAAAAATTCAACCACCTTAGGAAGCCTCTCATTTATGTATTTCTAGCATGTAATTAGTGTTGCACATGGGAAGGGCTAATAGATGCTGACAGAGTGAACAACTTATCTATTTTGTGTGTGTGTGTGTAACAGGGTCTCATTCTGTTGCCCAGGCTGGAATACAGTGGCATGATCACAGCTCACTGCAAACTTCAACTGCCAGGCTCAGGCAACCCTCCCACCTCAGCCTCTTGAATAGCTGGGACTGCAGGCTCATACCACCACAACCAGCTAACTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGCTCAGGCTAGTCTCGAACTCCTGGACTCAAGTGATCCACCTGTCTTGGCTGCCTACATTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAAATTTTTTTTTTTTTTTAAGGGAAGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTCAGCTCAAGCAATCTGCCCACCTCAGCCTCTGAAAGTGCTGGGATTACAGGCATGAGCCACCATGTCCAGCACACTTTAATATTCACTATGGGCCCTCAAAAGGAAATGTTTGTGGGGCCACCAAAAGCAAATGTCTCTTGAACCTAGTCACCTGGGGGGACAAGTGTGGGAAAGTGCACCTGTGTTCCCATGAGACCCACTCAAGAGGAGCAGAAATCCTGTTTTGCTATTTCCTTAATTGCTACTAGGGCTGGGATTTTTTCATGTTTATTGGCCCCTCTACATTTTTTTCTTTAAAAAAATTCACAAAGCATGTTTATATTTGTTAGCTCTTTTGATTCTCCCTATGATAGTGTGAAGACAGGGACAAAACGCTACCATTTCACACTCCCAGATCTAACAATAGCTACCAAGTAATTATGCCATGCGTTTCTTCTAACCTTCGCAATATCACTACGAGGTAGTTCTTACTATCCTCATTTTACAGATAAGGAAACTGAGGCTAAGTGACGCTGGCAGACTTGCCCAAGGCCACACAGCTGGTAACAGGGACTGGTAGTCACTTGAGTCCTACATGAGCACCCTTGCTACTACAGCAGCTCCTCCCCTTTCTAGAGGCCTAGATGGAAAGATGCTGGTGTCAGCGGGGGGCACAAAGGTCCACCCAGTCCCACACATGCAGAGAGGCATCATTTGTTGCTGATAACAAAGTCCTTGGTCTGCAGGGATGCCAGGTGTAGGTGGTGACCAAAGGAGCAGGGTCCATCCCATTTCCATCTAGGAAGATGTGACCTCTGTGAGTGAAGAGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCGTGTTCCATCCCAAGATGTGGCATCATAGACCTGGACTGTACCATCAAAACCTGAGAATACAGAAAAGAGAGGCTTGACAATGAGTCCCTAATTTTATTTTAAAATAATTTTCTTTCTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGATGGTCTTGAACTCCTAGCCTCAAGCGATCCTCCCATCTCAGCCTCCCAAAATGCTGGGATTACAGGCACCCAGCCCCTAAAATACTTTTTATAATTTGTTCTATGGTACCAAAACAGGCTATTGGATGAGGAATCAAGGCACTTAAAAGGCTAACCACGGGCAAGTAGCATCTGCCCTCAGTGTTGGCAGCTGATGACTCCGTGGGGCATGTAACCATGAGCATCCGTTGTGCACCTGTTATGCGTGAGGCTCGAAGGCTAATTCTGGACAAGTATTAGCTCTTTTAATCCTCAGAACTGTATGACACAGATACTGTTATTTTACCCAGGAAACTGAGGCTTAAGAGACTTCTTCAAACCTTTTCAAGTTGCCCCAGAGTCCAGTCCCCTACCTCTGGGTCCCTTTCAGCAGATGGCCTTGTCTCCTACTCGATGGGGGAAACAGAAGCCTTTGGAGAGAAATACCTTCACGTCCCTGCACGATCTAGCTGCACACACACTCATTCCATCCTGCCATCTTCCTGGTACTGAAGAGCCAGCCCCTCTACCTGAGCTTGGCTCTTCTGTTCTTTCTGGATCCTGGCATTTCCAATCATCCTTTCTTGCTCTCTTAATGATTTTTTTCAACCCCCACCTGCCTCGACGGATCCTTCCTGTTGGCTTTTAGATACCCACATTAAGTGCCGCAAGCAACTAGCTACCACCAGACCAGAACCAGGGGCCTGCTGACCTAGCTGGCTTGCTACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGTCTGGAGTGCAGTGGCGTCATCTCAGCTCACTGCAACCTCTGACTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGGTGGGACTACAGGCGTGCACCAAAACACCCGGCTAATTTTTTTTATTTTCATAGAGACGGGGTTTCACCATGTTGGCCACGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGACCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCACCCGGCCAACTTGCTACATTTCAAAAGGCAAGTAGGCTGAGAAGTACCCTTGAGGTGCTGTCCCTGCTGCTTTTTTTTTTTTTTTCTTTTTTTTTCTTTTTGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTTCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCACTGTCCCCTTTTCTTTCTGACCCAGCCCGATGTCTGTCCCAGTGTCTTACTGTCTGCAGGCCCCTCCACCAACCTGAGACCTGAATTCCTGCTAGGCTAGGAAAGGCCTGCTGCCAATGTGTGGAAGTTTAGTAGCCAGGGTAGGAAAAGGCCTGCCACTGAAGAACCTGGAGAGTTCGAATTTCTCTGTGAGCAACTTTAACTCCTGGAGCCAGGTTTATCATGGTGCTGGAGGCTCCTTCCTGAGCACCCAACAGTCTCCTGGAAGAAAGAGATCAGATAACAAGACGAAATCCTGCTCGGCAGTACCTGAGATGGCCAAGCAATTCTTCAGGCCTGGGGCCCAAGTCACTCGCAGCAGCTCTGGGTCAGGGCTAGGTACGGATACTGGGCACTGGACTGAGCTCACAGGATGGCAGAGATCCCGGGGGTCAAGAAGACAAAGACGCCCATC
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Task1_train_21785
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The gene AGBL1 (AGBL carboxypeptidase 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Corneal dystrophy, Fuchs endothelial, 8
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TACCAGTATGGCATATACTGTGAGGTTTATTTTCCTGAATGACTCCTTCTTTTAACCTCTACAGAGCACCTGTTATGTGTCTGCTGGAGGCTGGGGTTGCAAATGTGTATGCGAGTGCTCCTGCCCCCGAGGGCCAGAGTCTTACTCTCATTCCCCTTCTCGCCTCCCCTTTGCCACCTGTGAGGTGGCTGACTGAGCAGGCAGGTGTGACCTTCACTTCCAATCAAGCCAGCCATTCTAGAATTGTATAAAAGTAACCTGGAAAAGGGGTTGGGGAAAGAATCAGACCTCGGAGCTTTAGAAAAGAGACTCAGATTTCTCTTTCTTTAGAAAGTGATCTTTTCTATTGACTTAAGAAAAAAACAACTTGTTCAACATCTGTCTTTCCCTTCTGACTGCTGTTGCTTAAGGAGGAACTGACTTCCCTTAACTCTGAAGTAATGTCTCCTTTCTTTAGGAAAACAGGTGTCAAAACATGCAGCAAATCAGATTTTCAAACAGCTGAAATAAACTTGAGGATTTTCTACCTTTTTAATGCTTTTAGCCAGGAATTCTTTTGTGAGGCTTATGATTTCCCAGTTTGGAATTTTGTTTCTCCTTGAGGTGCTTATGAGCAATCCTTCTGCATTCTTATTGTCCCATTCCTGTCCTCCATAATAAATCATTATTATTTGGATGTGAAAATCTATTCATAAAAAATGATTCATTATTATTTTTTATTTAGGTCAAATGTACTTTATAAACAGGAAGGCCTCAGGACCACACTGAATTCCGTTGTATTAAACGTCTTTATAGGAAGAGAGAAAGATAAATTGAGCTAATTTTGATCAATATTATGACTGTGAAATATTCCTTATCACCAGATGCTTAGGTATGAAGGGGAGAATTATGATTCCATTTTACAGATGAGAAAATCAAGGCAAAAAGAGTTCGCTGAGCCCAAGACCACACATTTAGAAACTAGTGAAACCAGATTCACACTTAATTCTGATCTAACTTCAAAAACCACGCACTTTCTAGCTCACCACAATGGAGTCTCTTCTAGTCGCTATACAGCTTTTTATGTTGAGTAGTCAAGACTGAATTTACTTATTAGCCTCTGGTACTTACTAGATGCTAGGCCTTGGATAAGTTACTTGTATTCATAAGTCTGCATCTCCTTATCTGTAGAATGGAGAAAAGAACAATCTCTACCTCACAGGGCTTTGGTAAGGATCCGCTGAGTTAATGCAAATCAAAGAGCTTAGAAGGGTATTTGGCATGCAGTAAGTGATCAATTAAGTTTGGTCAATTGTTATTATTATCTGTTTCTTCATGAATTATACTATAGAGTACATGTCATGATTTTGCTTTCATGCATATATGAGTACAGCTGAATAGGGGGTTCTAAATGAATACTGGTTTTTTAAAGTTTCAGTGTTCAGTATTTATATATGAAATATTTCCCCTACTTTTCTCCATTGGCCGATAAATTCAGAGGAAGGAAAAGTTATCTCTTAGTAAGATTCTTTATGAACTTCTGTTTCAGAAGTGAAAAAAAACCCTTTTTAAAAATACAGATAAAAGCGTTGCTGCTTTGACCATGGTGTGGGAAGGGTACAGATTCCTGGATCTCCATATATCCCCCTTTCCCTTTATAACCCCTACCAGCTCATTATTGTCATGGGGGTACTTCTGGGGAGCCCTGGATGTCGACATCACACAGACTGAGAACCACCACTCCACAATGCACACAACAGAATGTAATGGACAGTGACTGACAAATACAATTAATTCTCACTGTCTGAAAAATGCCTGTGTGTAGAAGTCCTTCTTCCTAATTTCAAAGTGTCACCACTCAGCTCCCATTATACGTTGCCACAGTTAATGCTTTGTTTAACTGGCAGGGTCTACAGTTTGGTACCAGAGAACTGGAGGAGATGGGAGCCATGTTCTGTTTGGGCCTCCTCATCCTGGAGCTCAAATCTGCCAGCTGCAGCCATCAGCTCCTGGCTCAAGCTGCAACTCTGCTGAGTGCTGAGGAGGACGCTCTGGACCAGCACCTCCAACGGTAAGATGCTCCCAAGGGCTCAGAGAAATTTGGACCTTGGTGGTTCCATTGCTCAATATCTCAGTAATGAAAGTCGAGTGGACCTAGGGGTCTTTACACAGAGAAAATATGGAAGAATTCCCAAGTAAAGGTAGGTACACTATCTCGTTTCCTACTGATGAAAAAGAGGATGCTGCCTGTTTGTACACATATATGCAAATATAAAACTATATGTATTTATACATATTTCTAGGTAACACATTTATGATAAGATGTGGCTTGGTGACACACACACAGGATATCTACATACACTTATATTTACCAGTTATGTGTTTATATGTATACAGATAACATTTTTGAGCCATTACTCAACAAAAAACAATGGCAATCTCATTGACAATATCTAGGCACCTGGAGACAAGAAATGTTTTACTCTTCCCATTCTCAAACATCATTGTTCCTTCTTGGAAGATGAAGGGAACCACCTGAAGATGATTAATACTTTGGCTCAGAGAACCGGACTCCCAGCCATAGGAGGGAAAGGCTAGATTTCTGAGAATCGTGGAGATTATTAATGAGCCAAGTGAGGGAGAACCATTATCCAAATGAGCCGTTTTGATGTTCTTTCCTGTTGAGAAATATTTTAGACTTGACCAAAACAAATTCAGTGGGCAAGAGGGGAAGAAATAATGGGCATGTGAGAGGAGAGAGGATGGAGGGGAGTCCAAGAAGCCAAAAGCGGCTAAGTCATTGCCCACACTTTGAGTGTCAGAATGGATGGAGAAATTGAGTTGTTGGGGAAGTGTCTCCTGGTAAATGAGGAGGCATCTGGTCGTGCACTTCACGTCCAAAGGCAGAGAGAAAGCCATTCATCCTGGGGCCATCTTATTTTGAGCTAATTTTCTTGAATTTTCCTCCTGTTCCTGTTAGGTGGCTGTTGCAGTGTGACATACTGAATGGCCAGTGAAACCTAGAAAGATCTAGCAGTATGCCTTAATACTGCTTTGGAAGGCCGTGGTTTTTCTGAGACTTGATTACCTAAATGCAGTAATTAACTTGCTCACCACACTGGGCTATAGATCATAGACTATAGAAACTTAAGTAAGTGCAGGGCTCTTTCCATAGAGCTGCCGTTGCTGATTTATTTTGACATCACAACCACTTCTGCCTGCCCCTGGTCCCTTCAACACCCCTCAGTGTCTGAAGGCTTCGTGTGTTTGGTATCTTTGTGGTGTTTTCAGACTCTCCCTCTGACAGCAAGCGCTTCCACCTGCCAGCATATATATTTCAACTTGTCTTTTCATCTTTTCCTTTACTAAGCTATCTTGGGTGTAGGCATGCCTGGATTTTCTTTCCTTCTTTCTCTTTTTCCCCCTCTCTCCTCTGCTGCTCATTGAGGGAAGATTGAGCAGAACTGGCATTGCTTGCTTTCGTCAAATTGATTGTGCCCGTCTGTTTGATCCAATTCAGTGAGGATTAGTTGCCTGCAAACTGGAACAAAAAGAAATCTATCAAAGAAATGCCTTTTCTAATTCAAGTTTAAAGAATTTGATGTCAGGCTTCAAATACAATGGCTGCTATATAGGTTATTATAAGGAGATAGTATTATTTGCCTCCACCCTTCCACACCATTTCACACAATTATTCATTTTTCAATTGCATCCTGACCAAGGGGATTGAAGCTAGAGGTCCTCCCATGACCTCTGACCTTTCCTAGGCTGGTGCAGCTCCCAGTCTAGGAAAGATACCTGAACACAGGATGTGATTAATATGTCTACTTTGAATATATTTGAATTAAGTTTGGCAGGCATGGAGTTTGGTGTAGATCAGCAGGAGGGAAACTACCTATTTCACCCAGACATTTGTATGGTAATATATTTTCCTATTCGTTATGATGCAGTTGACCACACGGATTGCGATTCTTGCCCAAAGGACCTGAAAACTGCATGGTTGAGAGGGAGATCACCGTGAGCATTTCTTGACCCCAAAAATGTTCCAGCCAATAAGCTTATGGTCACAAAAAGATGACAGAGAGAAAAATTTATAAAATCTACTGGTTTGAAACCA
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TACCAGTATGGCATATACTGTGAGGTTTATTTTCCTGAATGACTCCTTCTTTTAACCTCTACAGAGCACCTGTTATGTGTCTGCTGGAGGCTGGGGTTGCAAATGTGTATGCGAGTGCTCCTGCCCCCGAGGGCCAGAGTCTTACTCTCATTCCCCTTCTCGCCTCCCCTTTGCCACCTGTGAGGTGGCTGACTGAGCAGGCAGGTGTGACCTTCACTTCCAATCAAGCCAGCCATTCTAGAATTGTATAAAAGTAACCTGGAAAAGGGGTTGGGGAAAGAATCAGACCTCGGAGCTTTAGAAAAGAGACTCAGATTTCTCTTTCTTTAGAAAGTGATCTTTTCTATTGACTTAAGAAAAAAACAACTTGTTCAACATCTGTCTTTCCCTTCTGACTGCTGTTGCTTAAGGAGGAACTGACTTCCCTTAACTCTGAAGTAATGTCTCCTTTCTTTAGGAAAACAGGTGTCAAAACATGCAGCAAATCAGATTTTCAAACAGCTGAAATAAACTTGAGGATTTTCTACCTTTTTAATGCTTTTAGCCAGGAATTCTTTTGTGAGGCTTATGATTTCCCAGTTTGGAATTTTGTTTCTCCTTGAGGTGCTTATGAGCAATCCTTCTGCATTCTTATTGTCCCATTCCTGTCCTCCATAATAAATCATTATTATTTGGATGTGAAAATCTATTCATAAAAAATGATTCATTATTATTTTTTATTTAGGTCAAATGTACTTTATAAACAGGAAGGCCTCAGGACCACACTGAATTCCGTTGTATTAAACGTCTTTATAGGAAGAGAGAAAGATAAATTGAGCTAATTTTGATCAATATTATGACTGTGAAATATTCCTTATCACCAGATGCTTAGGTATGAAGGGGAGAATTATGATTCCATTTTACAGATGAGAAAATCAAGGCAAAAAGAGTTCGCTGAGCCCAAGACCACACATTTAGAAACTAGTGAAACCAGATTCACACTTAATTCTGATCTAACTTCAAAAACCACGCACTTTCTAGCTCACCACAATGGAGTCTCTTCTAGTCGCTATACAGCTTTTTATGTTGAGTAGTCAAGACTGAATTTACTTATTAGCCTCTGGTACTTACTAGATGCTAGGCCTTGGATAAGTTACTTGTATTCATAAGTCTGCATCTCCTTATCTGTAGAATGGAGAAAAGAACAATCTCTACCTCACAGGGCTTTGGTAAGGATCCGCTGAGTTAATGCAAATCAAAGAGCTTAGAAGGGTATTTGGCATGCAGTAAGTGATCAATTAAGTTTGGTCAATTGTTATTATTATCTGTTTCTTCATGAATTATACTATAGAGTACATGTCATGATTTTGCTTTCATGCATATATGAGTACAGCTGAATAGGGGGTTCTAAATGAATACTGGTTTTTTAAAGTTTCAGTGTTCAGTATTTATATATGAAATATTTCCCCTACTTTTCTCCATTGGCCGATAAATTCAGAGGAAGGAAAAGTTATCTCTTAGTAAGATTCTTTATGAACTTCTGTTTCAGAAGTGAAAAAAAACCCTTTTTAAAAATACAGATAAAAGCGTTGCTGCTTTGACCATGGTGTGGGAAGGGTACAGATTCCTGGATCTCCATATATCCCCCTTTCCCTTTATAACCCCTACCAGCTCATTATTGTCATGGGGGTACTTCTGGGGAGCCCTGGATGTCGACATCACACAGACTGAGAACCACCACTCCACAATGCACACAACAGAATGTAATGGACAGTGACTGACAAATACAATTAATTCTCACTGTCTGAAAAATGCCTGTGTGTAGAAGTCCTTCTTCCTAATTTCAAAGTGTCACCACTCAGCTCCCATTATACGTTGCCACAGTTAATGCTTTGTTTAACTGGCAGGGTCTACAGTTTGGTACCAGAGAACTGGAGGAGATGGGAGCCATGTTCTGTTTGGGCCTCCTCATCCTGGAGCTCAAATCTGCCAGCTGCAGCCATCAGCTCCTGGCTCAAGCTGCAACTCTGCTGAGTGCTGAGGAGGACGCTCTGGACCAGCACCTCCAATGGTAAGATGCTCCCAAGGGCTCAGAGAAATTTGGACCTTGGTGGTTCCATTGCTCAATATCTCAGTAATGAAAGTCGAGTGGACCTAGGGGTCTTTACACAGAGAAAATATGGAAGAATTCCCAAGTAAAGGTAGGTACACTATCTCGTTTCCTACTGATGAAAAAGAGGATGCTGCCTGTTTGTACACATATATGCAAATATAAAACTATATGTATTTATACATATTTCTAGGTAACACATTTATGATAAGATGTGGCTTGGTGACACACACACAGGATATCTACATACACTTATATTTACCAGTTATGTGTTTATATGTATACAGATAACATTTTTGAGCCATTACTCAACAAAAAACAATGGCAATCTCATTGACAATATCTAGGCACCTGGAGACAAGAAATGTTTTACTCTTCCCATTCTCAAACATCATTGTTCCTTCTTGGAAGATGAAGGGAACCACCTGAAGATGATTAATACTTTGGCTCAGAGAACCGGACTCCCAGCCATAGGAGGGAAAGGCTAGATTTCTGAGAATCGTGGAGATTATTAATGAGCCAAGTGAGGGAGAACCATTATCCAAATGAGCCGTTTTGATGTTCTTTCCTGTTGAGAAATATTTTAGACTTGACCAAAACAAATTCAGTGGGCAAGAGGGGAAGAAATAATGGGCATGTGAGAGGAGAGAGGATGGAGGGGAGTCCAAGAAGCCAAAAGCGGCTAAGTCATTGCCCACACTTTGAGTGTCAGAATGGATGGAGAAATTGAGTTGTTGGGGAAGTGTCTCCTGGTAAATGAGGAGGCATCTGGTCGTGCACTTCACGTCCAAAGGCAGAGAGAAAGCCATTCATCCTGGGGCCATCTTATTTTGAGCTAATTTTCTTGAATTTTCCTCCTGTTCCTGTTAGGTGGCTGTTGCAGTGTGACATACTGAATGGCCAGTGAAACCTAGAAAGATCTAGCAGTATGCCTTAATACTGCTTTGGAAGGCCGTGGTTTTTCTGAGACTTGATTACCTAAATGCAGTAATTAACTTGCTCACCACACTGGGCTATAGATCATAGACTATAGAAACTTAAGTAAGTGCAGGGCTCTTTCCATAGAGCTGCCGTTGCTGATTTATTTTGACATCACAACCACTTCTGCCTGCCCCTGGTCCCTTCAACACCCCTCAGTGTCTGAAGGCTTCGTGTGTTTGGTATCTTTGTGGTGTTTTCAGACTCTCCCTCTGACAGCAAGCGCTTCCACCTGCCAGCATATATATTTCAACTTGTCTTTTCATCTTTTCCTTTACTAAGCTATCTTGGGTGTAGGCATGCCTGGATTTTCTTTCCTTCTTTCTCTTTTTCCCCCTCTCTCCTCTGCTGCTCATTGAGGGAAGATTGAGCAGAACTGGCATTGCTTGCTTTCGTCAAATTGATTGTGCCCGTCTGTTTGATCCAATTCAGTGAGGATTAGTTGCCTGCAAACTGGAACAAAAAGAAATCTATCAAAGAAATGCCTTTTCTAATTCAAGTTTAAAGAATTTGATGTCAGGCTTCAAATACAATGGCTGCTATATAGGTTATTATAAGGAGATAGTATTATTTGCCTCCACCCTTCCACACCATTTCACACAATTATTCATTTTTCAATTGCATCCTGACCAAGGGGATTGAAGCTAGAGGTCCTCCCATGACCTCTGACCTTTCCTAGGCTGGTGCAGCTCCCAGTCTAGGAAAGATACCTGAACACAGGATGTGATTAATATGTCTACTTTGAATATATTTGAATTAAGTTTGGCAGGCATGGAGTTTGGTGTAGATCAGCAGGAGGGAAACTACCTATTTCACCCAGACATTTGTATGGTAATATATTTTCCTATTCGTTATGATGCAGTTGACCACACGGATTGCGATTCTTGCCCAAAGGACCTGAAAACTGCATGGTTGAGAGGGAGATCACCGTGAGCATTTCTTGACCCCAAAAATGTTCCAGCCAATAAGCTTATGGTCACAAAAAGATGACAGAGAGAAAAATTTATAAAATCTACTGGTTTGAAACCA
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Task1_train_21786
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Here is a genetic alteration in AGBL1 (AGBL carboxypeptidase 1) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Fuchs' endothelial dystrophy
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TACCAGTATGGCATATACTGTGAGGTTTATTTTCCTGAATGACTCCTTCTTTTAACCTCTACAGAGCACCTGTTATGTGTCTGCTGGAGGCTGGGGTTGCAAATGTGTATGCGAGTGCTCCTGCCCCCGAGGGCCAGAGTCTTACTCTCATTCCCCTTCTCGCCTCCCCTTTGCCACCTGTGAGGTGGCTGACTGAGCAGGCAGGTGTGACCTTCACTTCCAATCAAGCCAGCCATTCTAGAATTGTATAAAAGTAACCTGGAAAAGGGGTTGGGGAAAGAATCAGACCTCGGAGCTTTAGAAAAGAGACTCAGATTTCTCTTTCTTTAGAAAGTGATCTTTTCTATTGACTTAAGAAAAAAACAACTTGTTCAACATCTGTCTTTCCCTTCTGACTGCTGTTGCTTAAGGAGGAACTGACTTCCCTTAACTCTGAAGTAATGTCTCCTTTCTTTAGGAAAACAGGTGTCAAAACATGCAGCAAATCAGATTTTCAAACAGCTGAAATAAACTTGAGGATTTTCTACCTTTTTAATGCTTTTAGCCAGGAATTCTTTTGTGAGGCTTATGATTTCCCAGTTTGGAATTTTGTTTCTCCTTGAGGTGCTTATGAGCAATCCTTCTGCATTCTTATTGTCCCATTCCTGTCCTCCATAATAAATCATTATTATTTGGATGTGAAAATCTATTCATAAAAAATGATTCATTATTATTTTTTATTTAGGTCAAATGTACTTTATAAACAGGAAGGCCTCAGGACCACACTGAATTCCGTTGTATTAAACGTCTTTATAGGAAGAGAGAAAGATAAATTGAGCTAATTTTGATCAATATTATGACTGTGAAATATTCCTTATCACCAGATGCTTAGGTATGAAGGGGAGAATTATGATTCCATTTTACAGATGAGAAAATCAAGGCAAAAAGAGTTCGCTGAGCCCAAGACCACACATTTAGAAACTAGTGAAACCAGATTCACACTTAATTCTGATCTAACTTCAAAAACCACGCACTTTCTAGCTCACCACAATGGAGTCTCTTCTAGTCGCTATACAGCTTTTTATGTTGAGTAGTCAAGACTGAATTTACTTATTAGCCTCTGGTACTTACTAGATGCTAGGCCTTGGATAAGTTACTTGTATTCATAAGTCTGCATCTCCTTATCTGTAGAATGGAGAAAAGAACAATCTCTACCTCACAGGGCTTTGGTAAGGATCCGCTGAGTTAATGCAAATCAAAGAGCTTAGAAGGGTATTTGGCATGCAGTAAGTGATCAATTAAGTTTGGTCAATTGTTATTATTATCTGTTTCTTCATGAATTATACTATAGAGTACATGTCATGATTTTGCTTTCATGCATATATGAGTACAGCTGAATAGGGGGTTCTAAATGAATACTGGTTTTTTAAAGTTTCAGTGTTCAGTATTTATATATGAAATATTTCCCCTACTTTTCTCCATTGGCCGATAAATTCAGAGGAAGGAAAAGTTATCTCTTAGTAAGATTCTTTATGAACTTCTGTTTCAGAAGTGAAAAAAAACCCTTTTTAAAAATACAGATAAAAGCGTTGCTGCTTTGACCATGGTGTGGGAAGGGTACAGATTCCTGGATCTCCATATATCCCCCTTTCCCTTTATAACCCCTACCAGCTCATTATTGTCATGGGGGTACTTCTGGGGAGCCCTGGATGTCGACATCACACAGACTGAGAACCACCACTCCACAATGCACACAACAGAATGTAATGGACAGTGACTGACAAATACAATTAATTCTCACTGTCTGAAAAATGCCTGTGTGTAGAAGTCCTTCTTCCTAATTTCAAAGTGTCACCACTCAGCTCCCATTATACGTTGCCACAGTTAATGCTTTGTTTAACTGGCAGGGTCTACAGTTTGGTACCAGAGAACTGGAGGAGATGGGAGCCATGTTCTGTTTGGGCCTCCTCATCCTGGAGCTCAAATCTGCCAGCTGCAGCCATCAGCTCCTGGCTCAAGCTGCAACTCTGCTGAGTGCTGAGGAGGACGCTCTGGACCAGCACCTCCAACGGTAAGATGCTCCCAAGGGCTCAGAGAAATTTGGACCTTGGTGGTTCCATTGCTCAATATCTCAGTAATGAAAGTCGAGTGGACCTAGGGGTCTTTACACAGAGAAAATATGGAAGAATTCCCAAGTAAAGGTAGGTACACTATCTCGTTTCCTACTGATGAAAAAGAGGATGCTGCCTGTTTGTACACATATATGCAAATATAAAACTATATGTATTTATACATATTTCTAGGTAACACATTTATGATAAGATGTGGCTTGGTGACACACACACAGGATATCTACATACACTTATATTTACCAGTTATGTGTTTATATGTATACAGATAACATTTTTGAGCCATTACTCAACAAAAAACAATGGCAATCTCATTGACAATATCTAGGCACCTGGAGACAAGAAATGTTTTACTCTTCCCATTCTCAAACATCATTGTTCCTTCTTGGAAGATGAAGGGAACCACCTGAAGATGATTAATACTTTGGCTCAGAGAACCGGACTCCCAGCCATAGGAGGGAAAGGCTAGATTTCTGAGAATCGTGGAGATTATTAATGAGCCAAGTGAGGGAGAACCATTATCCAAATGAGCCGTTTTGATGTTCTTTCCTGTTGAGAAATATTTTAGACTTGACCAAAACAAATTCAGTGGGCAAGAGGGGAAGAAATAATGGGCATGTGAGAGGAGAGAGGATGGAGGGGAGTCCAAGAAGCCAAAAGCGGCTAAGTCATTGCCCACACTTTGAGTGTCAGAATGGATGGAGAAATTGAGTTGTTGGGGAAGTGTCTCCTGGTAAATGAGGAGGCATCTGGTCGTGCACTTCACGTCCAAAGGCAGAGAGAAAGCCATTCATCCTGGGGCCATCTTATTTTGAGCTAATTTTCTTGAATTTTCCTCCTGTTCCTGTTAGGTGGCTGTTGCAGTGTGACATACTGAATGGCCAGTGAAACCTAGAAAGATCTAGCAGTATGCCTTAATACTGCTTTGGAAGGCCGTGGTTTTTCTGAGACTTGATTACCTAAATGCAGTAATTAACTTGCTCACCACACTGGGCTATAGATCATAGACTATAGAAACTTAAGTAAGTGCAGGGCTCTTTCCATAGAGCTGCCGTTGCTGATTTATTTTGACATCACAACCACTTCTGCCTGCCCCTGGTCCCTTCAACACCCCTCAGTGTCTGAAGGCTTCGTGTGTTTGGTATCTTTGTGGTGTTTTCAGACTCTCCCTCTGACAGCAAGCGCTTCCACCTGCCAGCATATATATTTCAACTTGTCTTTTCATCTTTTCCTTTACTAAGCTATCTTGGGTGTAGGCATGCCTGGATTTTCTTTCCTTCTTTCTCTTTTTCCCCCTCTCTCCTCTGCTGCTCATTGAGGGAAGATTGAGCAGAACTGGCATTGCTTGCTTTCGTCAAATTGATTGTGCCCGTCTGTTTGATCCAATTCAGTGAGGATTAGTTGCCTGCAAACTGGAACAAAAAGAAATCTATCAAAGAAATGCCTTTTCTAATTCAAGTTTAAAGAATTTGATGTCAGGCTTCAAATACAATGGCTGCTATATAGGTTATTATAAGGAGATAGTATTATTTGCCTCCACCCTTCCACACCATTTCACACAATTATTCATTTTTCAATTGCATCCTGACCAAGGGGATTGAAGCTAGAGGTCCTCCCATGACCTCTGACCTTTCCTAGGCTGGTGCAGCTCCCAGTCTAGGAAAGATACCTGAACACAGGATGTGATTAATATGTCTACTTTGAATATATTTGAATTAAGTTTGGCAGGCATGGAGTTTGGTGTAGATCAGCAGGAGGGAAACTACCTATTTCACCCAGACATTTGTATGGTAATATATTTTCCTATTCGTTATGATGCAGTTGACCACACGGATTGCGATTCTTGCCCAAAGGACCTGAAAACTGCATGGTTGAGAGGGAGATCACCGTGAGCATTTCTTGACCCCAAAAATGTTCCAGCCAATAAGCTTATGGTCACAAAAAGATGACAGAGAGAAAAATTTATAAAATCTACTGGTTTGAAACCA
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TACCAGTATGGCATATACTGTGAGGTTTATTTTCCTGAATGACTCCTTCTTTTAACCTCTACAGAGCACCTGTTATGTGTCTGCTGGAGGCTGGGGTTGCAAATGTGTATGCGAGTGCTCCTGCCCCCGAGGGCCAGAGTCTTACTCTCATTCCCCTTCTCGCCTCCCCTTTGCCACCTGTGAGGTGGCTGACTGAGCAGGCAGGTGTGACCTTCACTTCCAATCAAGCCAGCCATTCTAGAATTGTATAAAAGTAACCTGGAAAAGGGGTTGGGGAAAGAATCAGACCTCGGAGCTTTAGAAAAGAGACTCAGATTTCTCTTTCTTTAGAAAGTGATCTTTTCTATTGACTTAAGAAAAAAACAACTTGTTCAACATCTGTCTTTCCCTTCTGACTGCTGTTGCTTAAGGAGGAACTGACTTCCCTTAACTCTGAAGTAATGTCTCCTTTCTTTAGGAAAACAGGTGTCAAAACATGCAGCAAATCAGATTTTCAAACAGCTGAAATAAACTTGAGGATTTTCTACCTTTTTAATGCTTTTAGCCAGGAATTCTTTTGTGAGGCTTATGATTTCCCAGTTTGGAATTTTGTTTCTCCTTGAGGTGCTTATGAGCAATCCTTCTGCATTCTTATTGTCCCATTCCTGTCCTCCATAATAAATCATTATTATTTGGATGTGAAAATCTATTCATAAAAAATGATTCATTATTATTTTTTATTTAGGTCAAATGTACTTTATAAACAGGAAGGCCTCAGGACCACACTGAATTCCGTTGTATTAAACGTCTTTATAGGAAGAGAGAAAGATAAATTGAGCTAATTTTGATCAATATTATGACTGTGAAATATTCCTTATCACCAGATGCTTAGGTATGAAGGGGAGAATTATGATTCCATTTTACAGATGAGAAAATCAAGGCAAAAAGAGTTCGCTGAGCCCAAGACCACACATTTAGAAACTAGTGAAACCAGATTCACACTTAATTCTGATCTAACTTCAAAAACCACGCACTTTCTAGCTCACCACAATGGAGTCTCTTCTAGTCGCTATACAGCTTTTTATGTTGAGTAGTCAAGACTGAATTTACTTATTAGCCTCTGGTACTTACTAGATGCTAGGCCTTGGATAAGTTACTTGTATTCATAAGTCTGCATCTCCTTATCTGTAGAATGGAGAAAAGAACAATCTCTACCTCACAGGGCTTTGGTAAGGATCCGCTGAGTTAATGCAAATCAAAGAGCTTAGAAGGGTATTTGGCATGCAGTAAGTGATCAATTAAGTTTGGTCAATTGTTATTATTATCTGTTTCTTCATGAATTATACTATAGAGTACATGTCATGATTTTGCTTTCATGCATATATGAGTACAGCTGAATAGGGGGTTCTAAATGAATACTGGTTTTTTAAAGTTTCAGTGTTCAGTATTTATATATGAAATATTTCCCCTACTTTTCTCCATTGGCCGATAAATTCAGAGGAAGGAAAAGTTATCTCTTAGTAAGATTCTTTATGAACTTCTGTTTCAGAAGTGAAAAAAAACCCTTTTTAAAAATACAGATAAAAGCGTTGCTGCTTTGACCATGGTGTGGGAAGGGTACAGATTCCTGGATCTCCATATATCCCCCTTTCCCTTTATAACCCCTACCAGCTCATTATTGTCATGGGGGTACTTCTGGGGAGCCCTGGATGTCGACATCACACAGACTGAGAACCACCACTCCACAATGCACACAACAGAATGTAATGGACAGTGACTGACAAATACAATTAATTCTCACTGTCTGAAAAATGCCTGTGTGTAGAAGTCCTTCTTCCTAATTTCAAAGTGTCACCACTCAGCTCCCATTATACGTTGCCACAGTTAATGCTTTGTTTAACTGGCAGGGTCTACAGTTTGGTACCAGAGAACTGGAGGAGATGGGAGCCATGTTCTGTTTGGGCCTCCTCATCCTGGAGCTCAAATCTGCCAGCTGCAGCCATCAGCTCCTGGCTCAAGCTGCAACTCTGCTGAGTGCTGAGGAGGACGCTCTGGACCAGCACCTCCAATGGTAAGATGCTCCCAAGGGCTCAGAGAAATTTGGACCTTGGTGGTTCCATTGCTCAATATCTCAGTAATGAAAGTCGAGTGGACCTAGGGGTCTTTACACAGAGAAAATATGGAAGAATTCCCAAGTAAAGGTAGGTACACTATCTCGTTTCCTACTGATGAAAAAGAGGATGCTGCCTGTTTGTACACATATATGCAAATATAAAACTATATGTATTTATACATATTTCTAGGTAACACATTTATGATAAGATGTGGCTTGGTGACACACACACAGGATATCTACATACACTTATATTTACCAGTTATGTGTTTATATGTATACAGATAACATTTTTGAGCCATTACTCAACAAAAAACAATGGCAATCTCATTGACAATATCTAGGCACCTGGAGACAAGAAATGTTTTACTCTTCCCATTCTCAAACATCATTGTTCCTTCTTGGAAGATGAAGGGAACCACCTGAAGATGATTAATACTTTGGCTCAGAGAACCGGACTCCCAGCCATAGGAGGGAAAGGCTAGATTTCTGAGAATCGTGGAGATTATTAATGAGCCAAGTGAGGGAGAACCATTATCCAAATGAGCCGTTTTGATGTTCTTTCCTGTTGAGAAATATTTTAGACTTGACCAAAACAAATTCAGTGGGCAAGAGGGGAAGAAATAATGGGCATGTGAGAGGAGAGAGGATGGAGGGGAGTCCAAGAAGCCAAAAGCGGCTAAGTCATTGCCCACACTTTGAGTGTCAGAATGGATGGAGAAATTGAGTTGTTGGGGAAGTGTCTCCTGGTAAATGAGGAGGCATCTGGTCGTGCACTTCACGTCCAAAGGCAGAGAGAAAGCCATTCATCCTGGGGCCATCTTATTTTGAGCTAATTTTCTTGAATTTTCCTCCTGTTCCTGTTAGGTGGCTGTTGCAGTGTGACATACTGAATGGCCAGTGAAACCTAGAAAGATCTAGCAGTATGCCTTAATACTGCTTTGGAAGGCCGTGGTTTTTCTGAGACTTGATTACCTAAATGCAGTAATTAACTTGCTCACCACACTGGGCTATAGATCATAGACTATAGAAACTTAAGTAAGTGCAGGGCTCTTTCCATAGAGCTGCCGTTGCTGATTTATTTTGACATCACAACCACTTCTGCCTGCCCCTGGTCCCTTCAACACCCCTCAGTGTCTGAAGGCTTCGTGTGTTTGGTATCTTTGTGGTGTTTTCAGACTCTCCCTCTGACAGCAAGCGCTTCCACCTGCCAGCATATATATTTCAACTTGTCTTTTCATCTTTTCCTTTACTAAGCTATCTTGGGTGTAGGCATGCCTGGATTTTCTTTCCTTCTTTCTCTTTTTCCCCCTCTCTCCTCTGCTGCTCATTGAGGGAAGATTGAGCAGAACTGGCATTGCTTGCTTTCGTCAAATTGATTGTGCCCGTCTGTTTGATCCAATTCAGTGAGGATTAGTTGCCTGCAAACTGGAACAAAAAGAAATCTATCAAAGAAATGCCTTTTCTAATTCAAGTTTAAAGAATTTGATGTCAGGCTTCAAATACAATGGCTGCTATATAGGTTATTATAAGGAGATAGTATTATTTGCCTCCACCCTTCCACACCATTTCACACAATTATTCATTTTTCAATTGCATCCTGACCAAGGGGATTGAAGCTAGAGGTCCTCCCATGACCTCTGACCTTTCCTAGGCTGGTGCAGCTCCCAGTCTAGGAAAGATACCTGAACACAGGATGTGATTAATATGTCTACTTTGAATATATTTGAATTAAGTTTGGCAGGCATGGAGTTTGGTGTAGATCAGCAGGAGGGAAACTACCTATTTCACCCAGACATTTGTATGGTAATATATTTTCCTATTCGTTATGATGCAGTTGACCACACGGATTGCGATTCTTGCCCAAAGGACCTGAAAACTGCATGGTTGAGAGGGAGATCACCGTGAGCATTTCTTGACCCCAAAAATGTTCCAGCCAATAAGCTTATGGTCACAAAAAGATGACAGAGAGAAAAATTTATAAAATCTACTGGTTTGAAACCA
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Task1_train_21787
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A mutation on Chromosome 15 affecting ACAN (aggrecan) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Short stature and advanced bone age, with early-onset osteoarthritis
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GTCTCGTGCATGTGGAAGGCACTGGGTCTACTGCTAATCCAGCATTGGACCAAATGAGCAAAACTTCCACTGACCCCAGGATGGGCTTGACCCCAGAAGGGAAGGTATGTCTTCCCCAGGCCCAGACAAGAGAGGACTCTGCTCTTGGCTGTGTATTTTAGAGGCCCCCACTGGCCATCCTCCAGCCTCAACCCTCTCCAAAGGAAGGGGAGTCAGCAGGGCCAATGTGTCTGCCCAAATCTGCACTTCCCCTTTAGAGCACATTCTGGGGTCCCAGGATGCCCAGAATTTCCCCTCCAAGTGGGCCCAGGCCACATCCAGGGCCTGCATGGGTCCATCCTCCTACGGGGACACCATACCCCTGGTGGGAGCCACCCTGGGCCCAAGGGAGGGGCCAAGGAGTGGCTGTTTGTATGGGGTGTGGGCAGAGCAGGGCTGTGGGGCTGAGATAAGCACAGCAGCACATGAGACCCCCTCACAGTGCAGTCAGTGTGGGAAAAAGAAGGCGGCCCAGCTCCCCATGCTCCCACCCAGCCACTACAGCCCAAGGCAAAACACCAAGTAATCCAAGAATTCTGAATTTAAATCTGTGCTTTCAGGTCATTTTGAAAGGTACCATTGTCAAATAGGAAGATAGGACATAGAACTTAACAATCTGTTGGCCTGATTTACAACTTTTGCATCTGTAGACATATGGGACAAGGGCCTTCATTTGTACTGTTGCTGGGAGACCCACAGCCATGCAGCCCCTGGCTGTACCCAGGGGTGGTCCGCCCACACAGGGAAACCAGTTCATTAGGTTTGAGTGGGGCTTTAAAAACTGCTGAGCTGGGCACGACAGTCCCTTTCAGCTCTCCCCTGAGAACCACTACTGCTAAAACCAAGCCATGTCCAGGGTGCGAGGGCCCAGCACTCGGAGGAAGATGCCTGTGGAAGGGGCCAGTGGGACTGCCCAGGACATCAGAAGGTTAAGGCCTGGACTCTAAGCATTCCTCGCTCCCCTCCCCTTGCCCTGTGATGTATCTACAACCCACAAATATCTGAAACATTTTTTATTTCAACCTGTAGGCCCCCATGAAAGAACAGGTTTCATAAATGTATGAGTCTCCATGAAAGGTGCTTTTTTTTTTTTTTTGGAAAGCTGTTTTTTTTCTTTTTTTTTTTTCCCCATTCCCAGCAGATCTTTTGTTTCTAACAAGATTTGGTAAGCTTGTTGCACCTCCTCTATTGACACTCTCCATTATATTAACATGTTTGGAGTCTGATCCTATCCCATCGCCTCTCCTGCATCTGACTGTTTGCACACCAAAAGGTCTGATCTTCTCGGATGCTTCTCCACCTGAGTCCCCTGACTCCCAAACAGCAGAAGAGAGTGACTTGTCCCGGTGGCAAAATCAGGCTCGCACCCAAAAGCAGACCTCCCCAAATGGGACACATCTTAGAAGTTTTCTGTCTCAGCTTTAAAATTGTGTAGATTACTTTTCTACCCCAACATAATTTTTCCCAAAATCTTTGAGTTAAGCTGTCACTCCAAGGAGATGGGTCCTGTTTTATTCCACGCTTTGGTGCCCACTGCAGTACCCCAGTTTGAGAAACAGGGAGTTGGTCCTGACTCTGACGTCTCCCCTCCCTCCTCTGGAATCCTTTTCTAGCTCCATAGTTTCTGTCTCGAGATGCAGAGGCCAGGGGTCTTGAGGAACACTGCTCTGGAAAGGGCGTGGCAAGCCTTTCTGGGAATTCCCACATGACACGGGAGCATCCCCATCATAGAGACAGACACACTCATCGGATTTCGCTCTCTCAGGAGAGTGCATTGCTGGAAGGATGGATGGGGAGGCGGGGTGGTCCTCTCTAGGCACTAACAGGTCTCTCTTCTACCCCACCTCTCCCACACAGACCATGACAACTCGCTGAGTGTCAGCATCCCCCAACCGTCCCCGCTGAGGGTCCTCCTGGGGACCTCCCTCACCATCCCCTGCTATTTCATCGACCCCATGCACCCTGTGACCACCGCCCCTTCTACCGCCCCACTGGCCCCAAGAATCAAGTGGAGCCGTGTGTCCAAGGAGAAGGAGGTAGTGCTGCTGGTGGCCACTGAAGGGCGCGTGCGGGTCAACAGTGCCTATCAGGACAAGGTCTCACTGCCCAACTACCCGGCCATCCCCAGTGACGCCACCTTGGAAGTCCAGAGCCTGCGCTCCAATGACTCTGGGGTCTACCGCTGCGAGGTGATGCATGGCATCGAGGACAGCGAGGCCACCCTGGAAGTCGTGGTGAAAGGTGAGAGCCTCCCACAGGGACAGACGCTGCTTCACCCACATAAAGAACCAGAGCAGTCTCCGCAGTGCAGGCGCAGGCAGGCTGGCCTTCAAACCAGCTCCTCCACGCACCTCAGCCAAGTTACTTAACTTCAGCTGCTTCCTCTGTGACATGGAGCTGGTAATATCATTCTCTCTGGACTTAGGGAGCATTAAATACTTCCTGGCTGTGGTCACAGGTAACTGACAGTTTGTGCTTCCCAAGAATCCTGTGATCCGGTGGGTCTTGTGATCGTGCCCATTTTACAGACAAGCAAACTGAGGGCAAGTGACTTGCCTGAGGTTACCCTGGAAATGAGTCAGAGCAGTCTCCTGACAGTTCATCCTGGTGTCTTTTCCCTCCCCCTCTCCACTCTTATTCTCAGTTCCAGAAGCCAAAGCAAGGGCTGAAGACTCCCTGGTCTCTTTCTCTCCATGGCCCAAGGAGAACAGTCAGGTCTTTGGTTAGCTTCAGGACTTTGGTCAACACCAGATTTTTCCCAGGGGGAGGTACAGTGGGAGACTCTGTCAAAGACAGTTCACTCCTGGGCACACCTTAAATGAGGTTTCCACTAGGGTGGCCCTGGGCTGAGGGTGCAGGGCATTCTGAGTGTCTGTTTCTCTTAATGCAATATGGGGGTCTTGGAGTGATAAGAAAAAATTATAAGGAGGCAGATTTTAGTTTAATTCAAAGAACTTTCTCTTTATCAGTATTATCATAAGTCTTTAAAAAGGAATGCCTTATAAAGTAGTGAGCTCCCCATTACAGGGTGTTCCAGCAAATTCAGAAGGATCACGTGCAAAGGTGTACAGGGAGTCATGCATCAGCCCAGACCAGCCAGTTCCCTAAGGTCCCTTTGACTATTGCCATAATTCTGCGAGGGCCTCGGTGATCAGAGACTGTGCCTGACCAGCTCTTCCGCTTGTGGGCGTGTATGTGTCTTGCAGGCATCGTGTTCCATTACAGAGCCATCTCTACACGCTACACCCTCGACTTTGACAGGGCGCAGCGGGCCTGCCTGCAGAACAGTGCCATCATTGCCACGCCTGAGCAGCTGCAGGCCGCCTACGAAGACGGCTTCCACCAGTGTGACGCCGGCTGGCTGGCTGACCAGACTGTCAGGTGAGCCCTAGCCCATCAGCTAGTGGGGGCCAGGAGTCAGCAGCCACAGGGGAGTGGGGCGGGTGCTGGGTGGAACGTTGGCCAGCACTGAGCTGGTGCCAGCATGACACTGTGGCCAGCCTAGGTTAGAGGCCGTGGTCACACCTTGGCCAAACAGCAGCTCAATGACCCATCCCAAACCCTTGTTATTGTGATTCTCTCTTGCAAATGGGATGAGGGACTGCTAGCAACCTTGCCCTACATGTCATTATTTTTCCTACCCATTTTTTTCTTTGCCATGATTTCCTCACGTTTAAACTTTGGTGTCCTCTGTATTTTTATAAACAAACTTCCATCCTTTTTGTTTTTAATAAGGCAAGTTATAAATTGAACCCCTTGGTACATCCTTCCCTGAGCGTAGTTGCTGAGGAGTGAGGTGCAGAGCAGTCCAGATAGACCCTGCCCTCAAGGGATCTCAATGCACTGTGAAGGCAAGATGATATCACCCATTTCAGGAGCATCATAGCTCCAACAGCCAAAAACACAAAGCCTCAGGAAGGAAAATGTCTTTGCAGTCTCGGGGTAGGAAAACAGATCTTAGGATACAAAAACTATAGCCATAAAAAAAAAAAAAAGATGAGATAATAGTCTAGCATAGAGCAAGAGCCCACACCTGGGGGCATAAAGAACTGGACTC
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GTCTCGTGCATGTGGAAGGCACTGGGTCTACTGCTAATCCAGCATTGGACCAAATGAGCAAAACTTCCACTGACCCCAGGATGGGCTTGACCCCAGAAGGGAAGGTATGTCTTCCCCAGGCCCAGACAAGAGAGGACTCTGCTCTTGGCTGTGTATTTTAGAGGCCCCCACTGGCCATCCTCCAGCCTCAACCCTCTCCAAAGGAAGGGGAGTCAGCAGGGCCAATGTGTCTGCCCAAATCTGCACTTCCCCTTTAGAGCACATTCTGGGGTCCCAGGATGCCCAGAATTTCCCCTCCAAGTGGGCCCAGGCCACATCCAGGGCCTGCATGGGTCCATCCTCCTACGGGGACACCATACCCCTGGTGGGAGCCACCCTGGGCCCAAGGGAGGGGCCAAGGAGTGGCTGTTTGTATGGGGTGTGGGCAGAGCAGGGCTGTGGGGCTGAGATAAGCACAGCAGCACATGAGACCCCCTCACAGTGCAGTCAGTGTGGGAAAAAGAAGGCGGCCCAGCTCCCCATGCTCCCACCCAGCCACTACAGCCCAAGGCAAAACACCAAGTAATCCAAGAATTCTGAATTTAAATCTGTGCTTTCAGGTCATTTTGAAAGGTACCATTGTCAAATAGGAAGATAGGACATAGAACTTAACAATCTGTTGGCCTGATTTACAACTTTTGCATCTGTAGACATATGGGACAAGGGCCTTCATTTGTACTGTTGCTGGGAGACCCACAGCCATGCAGCCCCTGGCTGTACCCAGGGGTGGTCCGCCCACACAGGGAAACCAGTTCATTAGGTTTGAGTGGGGCTTTAAAAACTGCTGAGCTGGGCACGACAGTCCCTTTCAGCTCTCCCCTGAGAACCACTACTGCTAAAACCAAGCCATGTCCAGGGTGCGAGGGCCCAGCACTCGGAGGAAGATGCCTGTGGAAGGGGCCAGTGGGACTGCCCAGGACATCAGAAGGTTAAGGCCTGGACTCTAAGCATTCCTCGCTCCCCTCCCCTTGCCCTGTGATGTATCTACAACCCACAAATATCTGAAACATTTTTTATTTCAACCTGTAGGCCCCCATGAAAGAACAGGTTTCATAAATGTATGAGTCTCCATGAAAGGTGCTTTTTTTTTTTTTTTGGAAAGCTGTTTTTTTTCTTTTTTTTTTTTCCCCATTCCCAGCAGATCTTTTGTTTCTAACAAGATTTGGTAAGCTTGTTGCACCTCCTCTATTGACACTCTCCATTATATTAACATGTTTGGAGTCTGATCCTATCCCATCGCCTCTCCTGCATCTGACTGTTTGCACACCAAAAGGTCTGATCTTCTCGGATGCTTCTCCACCTGAGTCCCCTGACTCCCAAACAGCAGAAGAGAGTGACTTGTCCCGGTGGCAAAATCAGGCTCGCACCCAAAAGCAGACCTCCCCAAATGGGACACATCTTAGAAGTTTTCTGTCTCAGCTTTAAAATTGTGTAGATTACTTTTCTACCCCAACATAATTTTTCCCAAAATCTTTGAGTTAAGCTGTCACTCCAAGGAGATGGGTCCTGTTTTATTCCACGCTTTGGTGCCCACTGCAGTACCCCAGTTTGAGAAACAGGGAGTTGGTCCTGACTCTGACGTCTCCCCTCCCTCCTCTGGAATCCTTTTCTAGCTCCATAGTTTCTGTCTCGAGATGCAGAGGCCAGGGGTCTTGAGGAACACTGCTCTGGAAAGGGCGTGGCAAGCCTTTCTGGGAATTCCCACATGACACGGGAGCATCCCCATCATAGAGACAGACACACTCATCGGATTTCGCTCTCTCAGGAGAGTGCATTGCTGGAAGGATGGATGGGGAGGCGGGGTGGTCCTCTCTAGGCACTAACAGGTCTCTCTTCTACCCCACCTCTCCCACACAGACCATGACAACTCGCTGAGTGTCAGCATCCCCCAACCGTCCCCGCTGAGGGTCCTCCTGGGGACCTCCCTCACCATCCCCTGCTATTTCATCGACCCCATGCACCCTGTGACCACCGCCCCTTCTACCGCCCCACTGGCCCCAAGAATCAAGCGGAGCCGTGTGTCCAAGGAGAAGGAGGTAGTGCTGCTGGTGGCCACTGAAGGGCGCGTGCGGGTCAACAGTGCCTATCAGGACAAGGTCTCACTGCCCAACTACCCGGCCATCCCCAGTGACGCCACCTTGGAAGTCCAGAGCCTGCGCTCCAATGACTCTGGGGTCTACCGCTGCGAGGTGATGCATGGCATCGAGGACAGCGAGGCCACCCTGGAAGTCGTGGTGAAAGGTGAGAGCCTCCCACAGGGACAGACGCTGCTTCACCCACATAAAGAACCAGAGCAGTCTCCGCAGTGCAGGCGCAGGCAGGCTGGCCTTCAAACCAGCTCCTCCACGCACCTCAGCCAAGTTACTTAACTTCAGCTGCTTCCTCTGTGACATGGAGCTGGTAATATCATTCTCTCTGGACTTAGGGAGCATTAAATACTTCCTGGCTGTGGTCACAGGTAACTGACAGTTTGTGCTTCCCAAGAATCCTGTGATCCGGTGGGTCTTGTGATCGTGCCCATTTTACAGACAAGCAAACTGAGGGCAAGTGACTTGCCTGAGGTTACCCTGGAAATGAGTCAGAGCAGTCTCCTGACAGTTCATCCTGGTGTCTTTTCCCTCCCCCTCTCCACTCTTATTCTCAGTTCCAGAAGCCAAAGCAAGGGCTGAAGACTCCCTGGTCTCTTTCTCTCCATGGCCCAAGGAGAACAGTCAGGTCTTTGGTTAGCTTCAGGACTTTGGTCAACACCAGATTTTTCCCAGGGGGAGGTACAGTGGGAGACTCTGTCAAAGACAGTTCACTCCTGGGCACACCTTAAATGAGGTTTCCACTAGGGTGGCCCTGGGCTGAGGGTGCAGGGCATTCTGAGTGTCTGTTTCTCTTAATGCAATATGGGGGTCTTGGAGTGATAAGAAAAAATTATAAGGAGGCAGATTTTAGTTTAATTCAAAGAACTTTCTCTTTATCAGTATTATCATAAGTCTTTAAAAAGGAATGCCTTATAAAGTAGTGAGCTCCCCATTACAGGGTGTTCCAGCAAATTCAGAAGGATCACGTGCAAAGGTGTACAGGGAGTCATGCATCAGCCCAGACCAGCCAGTTCCCTAAGGTCCCTTTGACTATTGCCATAATTCTGCGAGGGCCTCGGTGATCAGAGACTGTGCCTGACCAGCTCTTCCGCTTGTGGGCGTGTATGTGTCTTGCAGGCATCGTGTTCCATTACAGAGCCATCTCTACACGCTACACCCTCGACTTTGACAGGGCGCAGCGGGCCTGCCTGCAGAACAGTGCCATCATTGCCACGCCTGAGCAGCTGCAGGCCGCCTACGAAGACGGCTTCCACCAGTGTGACGCCGGCTGGCTGGCTGACCAGACTGTCAGGTGAGCCCTAGCCCATCAGCTAGTGGGGGCCAGGAGTCAGCAGCCACAGGGGAGTGGGGCGGGTGCTGGGTGGAACGTTGGCCAGCACTGAGCTGGTGCCAGCATGACACTGTGGCCAGCCTAGGTTAGAGGCCGTGGTCACACCTTGGCCAAACAGCAGCTCAATGACCCATCCCAAACCCTTGTTATTGTGATTCTCTCTTGCAAATGGGATGAGGGACTGCTAGCAACCTTGCCCTACATGTCATTATTTTTCCTACCCATTTTTTTCTTTGCCATGATTTCCTCACGTTTAAACTTTGGTGTCCTCTGTATTTTTATAAACAAACTTCCATCCTTTTTGTTTTTAATAAGGCAAGTTATAAATTGAACCCCTTGGTACATCCTTCCCTGAGCGTAGTTGCTGAGGAGTGAGGTGCAGAGCAGTCCAGATAGACCCTGCCCTCAAGGGATCTCAATGCACTGTGAAGGCAAGATGATATCACCCATTTCAGGAGCATCATAGCTCCAACAGCCAAAAACACAAAGCCTCAGGAAGGAAAATGTCTTTGCAGTCTCGGGGTAGGAAAACAGATCTTAGGATACAAAAACTATAGCCATAAAAAAAAAAAAAAGATGAGATAATAGTCTAGCATAGAGCAAGAGCCCACACCTGGGGGCATAAAGAACTGGACTC
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Task1_train_21788
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A mutation on Chromosome 15 affecting ACAN (aggrecan) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Spondyloepimetaphyseal dysplasia, aggrecan type
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TTTCTTCATTTCCAAGACACTTTACACAGTTCCATTAGAAAGCATTTGGACACGTTGCTGAGCTCTTGAGAGAAAAATTTTACTGTGGAAAGAATGGAGTTTAGATTCTACATTTGAGCTTAAAGTGGGGCAGAGTTAATAAACCCACACTTCATCTTTCTTCCTTCTTTCCTACAGGGATCCTTCCTACTTGGCCTCCCACTGGCGCAGCAACAGAGGAAAGTACAGAAGGCCCTTCTGCAACTGAAGTGCCCTCTGCCTCAGAGGAACCATCCCCCTCAGAGGTGCCATTCCCCTCAGAGGAGCCATCCCCCTCAGAGGAACCATTCCCCTCAGTGAGGCCATTCCCCTCAGTGGAGCTGTTCCCCTCAGAGGAGCCATTCCCCTCCAAGGAGCCATCCCCCTCAGAGGAACCATCAGCCTCGGAAGAGCCGTATACACCTTCACCCCCCGTGCCCAGCTGGACTGAGCTGCCCAGCTCTGGGGAGGAATCTGGGGCCCCTGATGTCAGTGGTGACTTCACAGGCAGTGGAGATGTTTCAGGACACCTTGACTTCAGTGGGCAGCTGTCAGGGGACAGGGCAAGTGGACTGCCCTCTGGAGACCTGGACTCCAGTGGTCTTACTTCCACAGTGGGCTCAGGCCTGCCTGTGGAAAGTGGACTACCCTCAGGGGATGAAGAGAGAATTGAGTGGCCCAGCACTCCTACGGTTGGTGAACTGCCCTCTGGAGCTGAGATCCTAGAGGGCTCTGCCTCTGGAGTTGGGGATCTCAGTGGACTTCCTTCTGGAGAAGTTCTAGAGACCTCTGCCTCTGGAGTAGGAGACCTCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTTCTACCTCTGCGGTAGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGTTCTAGAGATTTCTGTCTCTGGAGTAGAGGACATCAGTGGGCTTCCTTCTGGAGAGGTTGTAGAGACTTCTGCCTCTGGAATAGAGGATGTCAGTGAACTTCCTTCAGGAGAAGGTCTAGAGACCTCTGCTTCTGGAGTAGAGGACCTCAGCAGGCTCCCTTCTGGAGAAGAAGTTCTAGAGATTTCTGCCTCTGGATTTGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGGTCTAGAGACCTCTGCTTCTGAAGTAGGGACTGACCTCAGTGGGCTTCCTTCTGGAAGGGAGGGTCTAGAGACTTCAGCTTCTGGAGCTGAGGACCTCAGTGGGTTGCCTTCTGGAAAAGAAGACTTGGTGGGGTCAGCTTCTGGAGACTTGGACTTGGGCAAACTGCCTTCTGGAACTCTAGGAAGTGGGCAAGCTCCAGAAACAAGTGGTCTTCCCTCTGGATTTAGTGGTGAGTATTCTGGGGTGGACCTTGGAAGTGGCCCACCCTCTGGCCTGCCTGACTTTAGTGGACTTCCATCTGGATTCCCAACTGTTTCCCTAGTGGATTCTACATTGGTGGAAGTGGTCACAGCCTCCACTGCAAGTGAACTGGAAGGGAGGGGAACCATTGGCATCAGTGGTGCAGGAGAAATATCTGGACTGCCCTCCAGTGAGCTGGACATTAGTGGGAGAGCTAGTGGACTCCCTTCAGGAACTGAACTCAGTGGCCAAGCATCTGGGTCTCCTGATGTCAGTGGGGAAATACCTGGACTCTTTGGTGTCAGTGGACAGCCATCAGGGTTTCCTGACACTAGTGGGGAAACATCTGGAGTGACTGAGCTTAGCGGGCTGTCCTCTGGACAACCAGGTATTAGTGGAGAAGCATCTGGAGTTCTTTATGGCACTAGTCAACCCTTTGGCATAACTGATCTGAGTGGAGAAACATCTGGGGTCCCTGATCTCAGTGGGCAGCCTTCAGGGTTACCAGGGTTCAGTGGGGCAACATCAGGAGTCCCTGACCTGGTTTCTGGTACCACGAGTGGCAGCGGTGAATCTTCTGGGATTACATTTGTGGACACCAGTTTGGTTGAAGTGGCCCCTACTACATTTAAAGAAGAAGAAGGCTTAGGGTCTGTGGAACTCAGTGGCCTCCCTTCCGGAGAGGCAGATCTGTCAGGCAAATCTGGGATGGTGGATGTCAGTGGACAGTTTTCTGGAACAGTCGATTCCAGTGGGTTTACATCCCAGACTCCGGAATTCAGTGGCCTACCAAGTGGCATAGCTGAGGTCAGTGGAGAATCCTCCAGAGCTGAGATTGGGAGCAGCCTGCCCTCGGGAGCATATTATGGCAGTGGAACTCCATCTAGTTTCCCCACTGTCTCTCTTGTAGACAGAACTTTGGTGGAATCTGTAACCCAGGCTCCAACAGCCCAAGAGGCAGGAGAAGGGCCTTCTGGCATTTTAGAACTCAGTGGTGCTCATTCTGGAGCACCAGACATGTCTGGGGAGCATTCTGGATTTCTGGACCTAAGTGGGCTGCAGTCCGGGCTGATAGAGCCCAGCGGAGAGCCACCAGGTACTCCATATTTTAGTGGGGATTTTGCCAGCACCACCAATGTAAGTGGAGAATCCTCTGTAGCCATGGGCACCAGTGGAGAGGCCTCAGGACTTCCAGAAGTTACTTTAATCACTTCTGAGTTCGTGGAGGGTGTTACTGAACCAACTATTTCTCAGGAACTAGGCCAAAGGCCCCCTGTGACACA
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TTTCTTCATTTCCAAGACACTTTACACAGTTCCATTAGAAAGCATTTGGACACGTTGCTGAGCTCTTGAGAGAAAAATTTTACTGTGGAAAGAATGGAGTTTAGATTCTACATTTGAGCTTAAAGTGGGGCAGAGTTAATAAACCCACACTTCATCTTTCTTCCTTCTTTCCTACAGGGATCCTTCCTACTTGGCCTCCCACTGGCGCAGCAACAGAGGAAAGTACAGAAGGCCCTTCTGCAACTGAAGTGCCCTCTGCCTCAGAGGAACCATCCCCCTCAGAGGTGCCATTCCCCTCAGAGGAGCCATCCCCCTCAGAGGAACCATTCCCCTCAGTGAGGCCATTCCCCTCAGTGGAGCTGTTCCCCTCAGAGGAGCCATTCCCCTCCAAGGAGCCATCCCCCTCAGAGGAACCATCAGCCTCGGAAGAGCCGTATACACCTTCACCCCCCGTGCCCAGCTGGACTGAGCTGCCCAGCTCTGGGGAGGAATCTGGGGCCCCTGATGTCAGTGGTGACTTCACAGGCAGTGGAGATGTTTCAGGACACCTTGACTTCAGTGGGCAGCTGTCAGGGGACAGGGCAAGTGGACTGCCCTCTGGAGACCTGGACTCCAGTGGTCTTACTTCCACAGTGGGCTCAGGCCTGCCTGTGGAAAGTGGACTACCCTCAGGGGATGAAGAGAGAATTGAGTGGCCCAGCACTCCTACGGTTGGTGAACTGCCCTCTGGAGCTGAGATCCTAGAGGGCTCTGCCTCTGGAGTTGGGGATCTCAGTGGACTTCCTTCTGGAGAAGTTCTAGAGACCTCTGCCTCTGGAGTAGGAGACCTCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAATTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTTCTACCTCTGCGGTAGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGTTCTAGAGATTTCTGTCTCTGGAGTAGAGGACATCAGTGGGCTTCCTTCTGGAGAGGTTGTAGAGACTTCTGCCTCTGGAATAGAGGATGTCAGTGAACTTCCTTCAGGAGAAGGTCTAGAGACCTCTGCTTCTGGAGTAGAGGACCTCAGCAGGCTCCCTTCTGGAGAAGAAGTTCTAGAGATTTCTGCCTCTGGATTTGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGGTCTAGAGACCTCTGCTTCTGAAGTAGGGACTGACCTCAGTGGGCTTCCTTCTGGAAGGGAGGGTCTAGAGACTTCAGCTTCTGGAGCTGAGGACCTCAGTGGGTTGCCTTCTGGAAAAGAAGACTTGGTGGGGTCAGCTTCTGGAGACTTGGACTTGGGCAAACTGCCTTCTGGAACTCTAGGAAGTGGGCAAGCTCCAGAAACAAGTGGTCTTCCCTCTGGATTTAGTGGTGAGTATTCTGGGGTGGACCTTGGAAGTGGCCCACCCTCTGGCCTGCCTGACTTTAGTGGACTTCCATCTGGATTCCCAACTGTTTCCCTAGTGGATTCTACATTGGTGGAAGTGGTCACAGCCTCCACTGCAAGTGAACTGGAAGGGAGGGGAACCATTGGCATCAGTGGTGCAGGAGAAATATCTGGACTGCCCTCCAGTGAGCTGGACATTAGTGGGAGAGCTAGTGGACTCCCTTCAGGAACTGAACTCAGTGGCCAAGCATCTGGGTCTCCTGATGTCAGTGGGGAAATACCTGGACTCTTTGGTGTCAGTGGACAGCCATCAGGGTTTCCTGACACTAGTGGGGAAACATCTGGAGTGACTGAGCTTAGCGGGCTGTCCTCTGGACAACCAGGTATTAGTGGAGAAGCATCTGGAGTTCTTTATGGCACTAGTCAACCCTTTGGCATAACTGATCTGAGTGGAGAAACATCTGGGGTCCCTGATCTCAGTGGGCAGCCTTCAGGGTTACCAGGGTTCAGTGGGGCAACATCAGGAGTCCCTGACCTGGTTTCTGGTACCACGAGTGGCAGCGGTGAATCTTCTGGGATTACATTTGTGGACACCAGTTTGGTTGAAGTGGCCCCTACTACATTTAAAGAAGAAGAAGGCTTAGGGTCTGTGGAACTCAGTGGCCTCCCTTCCGGAGAGGCAGATCTGTCAGGCAAATCTGGGATGGTGGATGTCAGTGGACAGTTTTCTGGAACAGTCGATTCCAGTGGGTTTACATCCCAGACTCCGGAATTCAGTGGCCTACCAAGTGGCATAGCTGAGGTCAGTGGAGAATCCTCCAGAGCTGAGATTGGGAGCAGCCTGCCCTCGGGAGCATATTATGGCAGTGGAACTCCATCTAGTTTCCCCACTGTCTCTCTTGTAGACAGAACTTTGGTGGAATCTGTAACCCAGGCTCCAACAGCCCAAGAGGCAGGAGAAGGGCCTTCTGGCATTTTAGAACTCAGTGGTGCTCATTCTGGAGCACCAGACATGTCTGGGGAGCATTCTGGATTTCTGGACCTAAGTGGGCTGCAGTCCGGGCTGATAGAGCCCAGCGGAGAGCCACCAGGTACTCCATATTTTAGTGGGGATTTTGCCAGCACCACCAATGTAAGTGGAGAATCCTCTGTAGCCATGGGCACCAGTGGAGAGGCCTCAGGACTTCCAGAAGTTACTTTAATCACTTCTGAGTTCGTGGAGGGTGTTACTGAACCAACTATTTCTCAGGAACTAGGCCAAAGGCCCCCTGTGACACA
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Task1_train_21789
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This alteration occurs within gene ACAN (aggrecan) located on Chromosome 15. Is it associated with a disease or is it a benign variant?
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Pathogenic; Spondyloepimetaphyseal dysplasia, aggrecan type
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GCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTTCTACCTCTGCGGTAGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGTTCTAGAGATTTCTGTCTCTGGAGTAGAGGACATCAGTGGGCTTCCTTCTGGAGAGGTTGTAGAGACTTCTGCCTCTGGAATAGAGGATGTCAGTGAACTTCCTTCAGGAGAAGGTCTAGAGACCTCTGCTTCTGGAGTAGAGGACCTCAGCAGGCTCCCTTCTGGAGAAGAAGTTCTAGAGATTTCTGCCTCTGGATTTGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGGTCTAGAGACCTCTGCTTCTGAAGTAGGGACTGACCTCAGTGGGCTTCCTTCTGGAAGGGAGGGTCTAGAGACTTCAGCTTCTGGAGCTGAGGACCTCAGTGGGTTGCCTTCTGGAAAAGAAGACTTGGTGGGGTCAGCTTCTGGAGACTTGGACTTGGGCAAACTGCCTTCTGGAACTCTAGGAAGTGGGCAAGCTCCAGAAACAAGTGGTCTTCCCTCTGGATTTAGTGGTGAGTATTCTGGGGTGGACCTTGGAAGTGGCCCACCCTCTGGCCTGCCTGACTTTAGTGGACTTCCATCTGGATTCCCAACTGTTTCCCTAGTGGATTCTACATTGGTGGAAGTGGTCACAGCCTCCACTGCAAGTGAACTGGAAGGGAGGGGAACCATTGGCATCAGTGGTGCAGGAGAAATATCTGGACTGCCCTCCAGTGAGCTGGACATTAGTGGGAGAGCTAGTGGACTCCCTTCAGGAACTGAACTCAGTGGCCAAGCATCTGGGTCTCCTGATGTCAGTGGGGAAATACCTGGACTCTTTGGTGTCAGTGGACAGCCATCAGGGTTTCCTGACACTAGTGGGGAAACATCTGGAGTGACTGAGCTTAGCGGGCTGTCCTCTGGACAACCAGGTATTAGTGGAGAAGCATCTGGAGTTCTTTATGGCACTAGTCAACCCTTTGGCATAACTGATCTGAGTGGAGAAACATCTGGGGTCCCTGATCTCAGTGGGCAGCCTTCAGGGTTACCAGGGTTCAGTGGGGCAACATCAGGAGTCCCTGACCTGGTTTCTGGTACCACGAGTGGCAGCGGTGAATCTTCTGGGATTACATTTGTGGACACCAGTTTGGTTGAAGTGGCCCCTACTACATTTAAAGAAGAAGAAGGCTTAGGGTCTGTGGAACTCAGTGGCCTCCCTTCCGGAGAGGCAGATCTGTCAGGCAAATCTGGGATGGTGGATGTCAGTGGACAGTTTTCTGGAACAGTCGATTCCAGTGGGTTTACATCCCAGACTCCGGAATTCAGTGGCCTACCAAGTGGCATAGCTGAGGTCAGTGGAGAATCCTCCAGAGCTGAGATTGGGAGCAGCCTGCCCTCGGGAGCATATTATGGCAGTGGAACTCCATCTAGTTTCCCCACTGTCTCTCTTGTAGACAGAACTTTGGTGGAATCTGTAACCCAGGCTCCAACAGCCCAAGAGGCAGGAGAAGGGCCTTCTGGCATTTTAGAACTCAGTGGTGCTCATTCTGGAGCACCAGACATGTCTGGGGAGCATTCTGGATTTCTGGACCTAAGTGGGCTGCAGTCCGGGCTGATAGAGCCCAGCGGAGAGCCACCAGGTACTCCATATTTTAGTGGGGATTTTGCCAGCACCACCAATGTAAGTGGAGAATCCTCTGTAGCCATGGGCACCAGTGGAGAGGCCTCAGGACTTCCAGAAGTTACTTTAATCACTTCTGAGTTCGTGGAGGGTGTTACTGAACCAACTATTTCTCAGGAACTAGGCCAAAGGCCCCCTGTGACACACACACCCCAGCTTTTTGAGTCCAGTGGAAAAGTCTCCACAGCTGGGGACATTAGTGGAGCTACCCCAGTGCTCCCTGGGTCTGGAGTAGAAGTATCATCAGTCCCAGAATCTAGCAGTGAGACGTCCGCCTATCCTGAAGCTGGGTTCGGGGCATCTGCCGCCCCTGAGGCCAGCAGAGAAGATTCTGGGTCCCCTGATCTGAGTGAAACCACCTCTGCATTCCACGAAGCTAACCTTGAGAGATCCTCTGGCCTAGGAGTGAGCGGCAGCACTTTGACATTTCAAGAAGGCGAGGCGTCCGCTGCCCCAGAAGTGAGTGGAGAATCCACCACCACCAGTGATGTGGGGACAGAGGCACCAGGCTTGCCTTCAGCCACTCCCACGGCTTCTGGAGACAGGACTGAAATCAGCGGAGACCTGTCTGGTCACACCTCGCAGCTGGGCGTTGTCATCAGCACCAGCATCCCAGAGTCTGAGTGGACCCAGCAGACCCAGCGCCCTGCAGAGACGCATCTAGAAATTGAGTCCTCAAGCCTCCTGTACTCAGGAGAAGAGACTCACACAGTCGAAACAGCCACCTCCCCAACAGATGCTTCCATCCCAGCTTCTCCGGAATGGAAACGTGAATCAGAATCAACTGCTGCAGGTATTGTGATTTTTTCCCCCTTTAAATGTGCTTAGGTAGTTCAGACTGTAGCCTACTGCAGCACAGAAGGAGGCAGCATAGCTTTAAGGTTCCAAGAACAACTCCACCAAAGGTTAGCTGTGCAGCCTCAGGCAATAGTCTTCCCCTCTCTGAGCCTCATCTGTAACGTAAGAGTAGGATAATACTCTACCAGGGAAGATTAGGCAGAACATAAACATAGATAGATAAAGCAAGCACTTAGCATCACGCTCTGCATGCAGTGCACACTTGTAAAGA
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GCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTTCTACCTCTGCGGTAGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGTTCTAGAGATTTCTGTCTCTGGAGTAGAGGACATCAGTGGGCTTCCTTCTGGAGAGGTTGTAGAGACTTCTGCCTCTGGAATAGAGGATGTCAGTGAACTTCCTTCAGGAGAAGGTCTAGAGACCTCTGCTTCTGGAGTAGAGGACCTCAGCAGGCTCCCTTCTGGAGAAGAAGTTCTAGAGATTTCTGCCTCTGGATTTGGGGACCTCAGTGGACTTCCTTCTGGAGGAGAAGGTCTAGAGACCTCTGCTTCTGAAGTAGGGACTGACCTCAGTGGGCTTCCTTCTGGAAGGGAGGGTCTAGAGACTTCAGCTTCTGGAGCTGAGGACCTCAGTGGGTTGCCTTCTGGAAAAGAAGACTTGGTGGGGTCAGCTTCTGGAGACTTGGACTTGGGCAAACTGCCTTCTGGAACTCTAGGAAGTGGGCAAGCTCCAGAAACAAGTGGTCTTCCCTCTGGATTTAGTGGTGAGTATTCTGGGGTGGACCTTGGAAGTGGCCCACCCTCTGGCCTGCCTGACTTTAGTGGACTTCCATCTGGATTCCCAACTGTTTCCCTAGTGGATTCTACATTGGTGGAAGTGGTCACAGCCTCCACTGCAAGTGAACTGGAAGGGAGGGGAACCATTGGCATCAGAGGTGCAGGAGAAATATCTGGACTGCCCTCCAGTGAGCTGGACATTAGTGGGAGAGCTAGTGGACTCCCTTCAGGAACTGAACTCAGTGGCCAAGCATCTGGGTCTCCTGATGTCAGTGGGGAAATACCTGGACTCTTTGGTGTCAGTGGACAGCCATCAGGGTTTCCTGACACTAGTGGGGAAACATCTGGAGTGACTGAGCTTAGCGGGCTGTCCTCTGGACAACCAGGTATTAGTGGAGAAGCATCTGGAGTTCTTTATGGCACTAGTCAACCCTTTGGCATAACTGATCTGAGTGGAGAAACATCTGGGGTCCCTGATCTCAGTGGGCAGCCTTCAGGGTTACCAGGGTTCAGTGGGGCAACATCAGGAGTCCCTGACCTGGTTTCTGGTACCACGAGTGGCAGCGGTGAATCTTCTGGGATTACATTTGTGGACACCAGTTTGGTTGAAGTGGCCCCTACTACATTTAAAGAAGAAGAAGGCTTAGGGTCTGTGGAACTCAGTGGCCTCCCTTCCGGAGAGGCAGATCTGTCAGGCAAATCTGGGATGGTGGATGTCAGTGGACAGTTTTCTGGAACAGTCGATTCCAGTGGGTTTACATCCCAGACTCCGGAATTCAGTGGCCTACCAAGTGGCATAGCTGAGGTCAGTGGAGAATCCTCCAGAGCTGAGATTGGGAGCAGCCTGCCCTCGGGAGCATATTATGGCAGTGGAACTCCATCTAGTTTCCCCACTGTCTCTCTTGTAGACAGAACTTTGGTGGAATCTGTAACCCAGGCTCCAACAGCCCAAGAGGCAGGAGAAGGGCCTTCTGGCATTTTAGAACTCAGTGGTGCTCATTCTGGAGCACCAGACATGTCTGGGGAGCATTCTGGATTTCTGGACCTAAGTGGGCTGCAGTCCGGGCTGATAGAGCCCAGCGGAGAGCCACCAGGTACTCCATATTTTAGTGGGGATTTTGCCAGCACCACCAATGTAAGTGGAGAATCCTCTGTAGCCATGGGCACCAGTGGAGAGGCCTCAGGACTTCCAGAAGTTACTTTAATCACTTCTGAGTTCGTGGAGGGTGTTACTGAACCAACTATTTCTCAGGAACTAGGCCAAAGGCCCCCTGTGACACACACACCCCAGCTTTTTGAGTCCAGTGGAAAAGTCTCCACAGCTGGGGACATTAGTGGAGCTACCCCAGTGCTCCCTGGGTCTGGAGTAGAAGTATCATCAGTCCCAGAATCTAGCAGTGAGACGTCCGCCTATCCTGAAGCTGGGTTCGGGGCATCTGCCGCCCCTGAGGCCAGCAGAGAAGATTCTGGGTCCCCTGATCTGAGTGAAACCACCTCTGCATTCCACGAAGCTAACCTTGAGAGATCCTCTGGCCTAGGAGTGAGCGGCAGCACTTTGACATTTCAAGAAGGCGAGGCGTCCGCTGCCCCAGAAGTGAGTGGAGAATCCACCACCACCAGTGATGTGGGGACAGAGGCACCAGGCTTGCCTTCAGCCACTCCCACGGCTTCTGGAGACAGGACTGAAATCAGCGGAGACCTGTCTGGTCACACCTCGCAGCTGGGCGTTGTCATCAGCACCAGCATCCCAGAGTCTGAGTGGACCCAGCAGACCCAGCGCCCTGCAGAGACGCATCTAGAAATTGAGTCCTCAAGCCTCCTGTACTCAGGAGAAGAGACTCACACAGTCGAAACAGCCACCTCCCCAACAGATGCTTCCATCCCAGCTTCTCCGGAATGGAAACGTGAATCAGAATCAACTGCTGCAGGTATTGTGATTTTTTCCCCCTTTAAATGTGCTTAGGTAGTTCAGACTGTAGCCTACTGCAGCACAGAAGGAGGCAGCATAGCTTTAAGGTTCCAAGAACAACTCCACCAAAGGTTAGCTGTGCAGCCTCAGGCAATAGTCTTCCCCTCTCTGAGCCTCATCTGTAACGTAAGAGTAGGATAATACTCTACCAGGGAAGATTAGGCAGAACATAAACATAGATAGATAAAGCAAGCACTTAGCATCACGCTCTGCATGCAGTGCACACTTGTAAAGA
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Task1_train_21790
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This sequence variant lies in ACAN (aggrecan) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
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TCCTACTCCCTTGCAGCCTCCCACCCTCCATCCTCACCCCAAGACCCCAAGAAATTGGTATATGGGGTCTTGGCTGGGGTGGAAGCAGAGACTACAAGGATTTTCTCCCCATGATACCACAACATTTGCCACAGGGTAGAAGAGTCTGGGACTTCCATGCCGACAACAGCTATTTGGTTCCAGACTGGAAAAGTGGGCTCTGCTGGAATGGAGGCAGGACCCTCACAGGGCTCTGTACCCTGATGGGGCAGAGAGATGGTGACAGAGCCACCCAGCTCGGCCCTGGGCCTGGGGGCCCAGCTAAGCAGGGCTGCATCTCCTCTCCCATTCCAATCCTGAGTCCTCACCACTCCACGGTGCCTCCTGCCTTGGCTCTGTCCCTGTTACCTCTTTCAGTCTGGAATTGTTTCTGTTTCCTAAGAATCTTCAGCCTGCACAGCCCTGCCCTCCCATACCCACCTCCCAGAGAAGTTGCACCCTCCAGCTCTGCCTGCCCAGCTCAGCCCTTAGCCACTGAAGGGGCCAAAAACTGACCCCCTAAGTCAGCCCTAAGATGATATCTCTGGCCTCTTCAGAGTGCTGAGCTAGTCTGAGGCCTCTCCACCTCTTTCCAGACTGCAGCCTCACCCCTTGGGGAAGGCATTCATAGCTGAGGCACCAGAGGCCTCCACGGCCCCTCCTACAGCTCTGTTCTTTCTTCTCAAGCTGCTGACCCCCTGTTCTGCTCTCCCTCCACTGTCCCCAACTGTCTCTCCCCCACTTTGCCAAGCATCCACCCCTTCAGCCTAAGACTCCTTCCCCTCGGGTACTGGTCCTTCCATTCCAGGACAGCCAGAGTATGGTGGCACCCAATCAGGGAGACCACCATGCAGCCTGAGGGGTTTGTGACCCTCCACCTGGGAGATCCCAGGGGAAGAAGGAAGAAGGGGGGCCTTGGAATTCACTCTGTCCCACACTGTGCTGGCAGATGTTTAACAACCAGCTCTCATAGAGGAGAAAGGAGCCCTGATTGTAGCATCTGCCAATTCCTGAGGTGTAAATGCTTCCACCGGGGCCAGTTTAAAGCTATCAACATGATGTCACTGAAGGCGAGGTTGAGAGGAGACACTAACAATGAGCTCTCTCAAAGCTGAGTGAGCCAGCTCAGCATGGCTCCGCCTGTCCCCTAGGCTGTCCAAGAACTCCAAGCCAGCCCCTTCTCCAGACTGAGAACCCATTACGAATTTAGGTTTGTGAGGAGAGAAGCTCCTCCCCTCTTCCCATTCACCCCCAAAATAAAAAGCCAGGGCCCCTGGATCCCAGACCCCCAATGGGCTATCTGACCCCTGCAAGAGGCAGGCACAGTGTGCTTAACTAAAGCCAACTCTGATCAACAGCCTTAGAGCTCTGAGTCTTCTCCAGACCCCAAGCAGACTTATTTCTGCTCCTCTGTTCCCACCTGAGGTTCTGCAGGAAGGAAACTGCCAGCTCCGCTCCATGCCCCAGCGCTACCAGCTTCCACTGCCTCCACACACTTCCCCACAGCTCCACTCCCTCTCTCCCTGGAGCCCCCCAGAGCCACAGAACCATGTTTTGCCTTAAATCTCAAGACCTCTCACCTTCCCACCTCTTTTGAACTGGACTGCTGACCTCTGCCGGCCCAGCAGAGCAGGCATCAAGAGGAGGAAAGCTTGGGAGAGGGTGAGGGGGGAGGGCGTGGCATCAGGGAAGGAAAGGGCCCCTGGCATTTTCCCGAGTGGAAGCATGTGCAGAGGCTCCCAGGGACCAGACCAGTTTCCAACCTGAACTCCTCCAGCTGTGCCTCTCCCTTCCCTTGAGGGCACAGCATGGAAGGTGGGGTGAACGCAGGAACCTATGCCATAAGACTGGCAGCATCTGCCATCCCCTGGTGGCCTCTGCCCCTCCCTTCAAGCCCCTGACCTGTGTTGCAGACCAGGAGGTATGTGAGGAGGGCTGGAACAAGTACCAGGGCCACTGTTACCGCCACTTCCCGGACCGCGAGACCTGGGTGGATGCTGAGCGCCGGTGTCGGGAGCAGCAGTCACACCTGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAGTGAGTGCGGCGGGGCCTCTGGAGCCTGAGAGGAGAGTGGCGGTGTAGGCAAAGGGCCTCACCTTTCAGAAGGCAGCAGATTTGGGCCTCGTGAGACTGCAGGACAGGGACCTGGGGGAGGGGGAACAGTGTTCCCACAGTCTGAGCTCCCAGAGAGAAGACAACGGTCTTTGGGGCCAGAAGCTGTGGCTGCAGCCAGGGCAGACCCATTGCCAGCCAGAGTCAGCCCAAGACTAAGCTATGGCTGTCACCCGTCCATGCCAGCTTGGAGAGGTGGCCCGAAGTGCACTCCAGGCATGCACGTGCTGAGCCTCTTGTGAGGACCTGAGAAGCACGTGCCTTGCTCCTAGGAGCCCACCCACCTCCTTTCCTCCTCCATCCCCTCTGCCTCCGTGAGCTCAAGTTTCTCAGACACCCTCAGGGTGTCCAGTGTGATGCCTGACACCCTCACCCTTTCCCCAGACAATGCCCAAGACTACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGACTTCCGCTGGTCAGATGGACACCCCATGGTGAGTTCTGCTGTAGGCACAGCTGGTGGCCCAGGGGACAGGGAGTGGGATAGAGACCCCTGGAGAGAGATGCATTCAAACCCCATGCAGACAGCCGCTTACCAGCTGCTGGACCGGGAACCCTTGAGGGCAGGGATTATCTCCTTCATCTCTGCCTCTGGAACCCAGCCCGGGGCTGGACAGATTGAGCTAATGATGGCAAGAGGCAAGGAGCCAGGAAGGAAATGAAGGAATAACAGCCACCACCATGAGGAGTATACGGAAGCTTTAGAGAGGTTTCTTGCCCACACTGAACTCGAGTCTACTCAAGGAGACAGACAGAAAGCAACATAGATGCCAAGTGAATGGTACGGGCACCCAGTGATTCTCTTTGTCCTGAAGCAAGGCTGGAAGGATAAGTCTTGGGAGGACTTCTTGGTGGGCAGAAGCTGGACTTAAGAGCTGTGTTCCTACCATCCATCCCTACCCAATGTGGTCAGCCCTGGTTGGCCCTTCTGGATAAGAGGTGTGGAATCAGCTCATGTACAGAGCCTGTGAGTCTTGGGGGTTCTGAGCTCCTGAGAAGGACCTGAGCCAAGCTGTGTGACTGATTCCCTAGAGGGCCACCGGGTTCCATGGCCCCTAGAACAGCCCTGATCAGATTCCCAGCAGTTTTTGTGCTGCTATCAGATGAGCCTGAAGTTGGTGCTAAAAGAGAAAGGAGATGATGAAGAGGCTCCACGGGGAAGACAGTCGGAGCAGGCCAACCCGCACTGTCCTGCCCTCTCCTTACTCCTTCCCCACTCCCACCCACAGCAATTTGAGAACTGGCGCCCCAACCAGCCTGACAACTTTTTTGCCGCTGGAGAGGACTGTGTGGTGATGATCTGGCACGAGAAGGGCGAGTGGAATGATGTTCCCTGCAATTACCACCTCCCCTTCACGTGTAAAAAGGGCACAGGTAAGCTGGCGCCTGGGAGGGGTCAGGGGAGGATAGGATCAAGACCTCCAGCTACAGGTGAGGCTCTTGCTGTGTGGCCTGGGGTGAGTCCCTTGTCTTCTGGCTGCTGGTGTCTCCTCACTTGTCCAAAAGGCAGACTGGAGCTGACCTAGGGGTCCCTCCTAGCACCGGCATCCCAGGGCCAATGGCAAGGGCAAGCTCGCTGCCAGGGACCGTTTGCAGGGACAGCAAGCACATGAAGGTCACAGGCTAGAAGACAGGACCCCCACTCCACACTCCACACAGTCCCTTGGATAGCAGCAGCAGAGTTACCCACAAGGGCCCCCAGATGGGGAGCCTCCCTGTCTTTGGGATTCCCAAGGCCATCAATCACAGAGTCATAGTTGTCAGGCCTCGATCCTTTGGCTTTCAGTCTGTGGACATTGAGGTGCTGGTAGGATGCGCCCCACTGCCCCTGCTCACCACCTTGCGTCCCCCAGGCCTCCTTTCAGTCTCATTTTCCCCTGAACTAGATGTTTTCA
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TCCTACTCCCTTGCAGCCTCCCACCCTCCATCCTCACCCCAAGACCCCAAGAAATTGGTATATGGGGTCTTGGCTGGGGTGGAAGCAGAGACTACAAGGATTTTCTCCCCATGATACCACAACATTTGCCACAGGGTAGAAGAGTCTGGGACTTCCATGCCGACAACAGCTATTTGGTTCCAGACTGGAAAAGTGGGCTCTGCTGGAATGGAGGCAGGACCCTCACAGGGCTCTGTACCCTGATGGGGCAGAGAGATGGTGACAGAGCCACCCAGCTCGGCCCTGGGCCTGGGGGCCCAGCTAAGCAGGGCTGCATCTCCTCTCCCATTCCAATCCTGAGTCCTCACCACTCCACGGTGCCTCCTGCCTTGGCTCTGTCCCTGTTACCTCTTTCAGTCTGGAATTGTTTCTGTTTCCTAAGAATCTTCAGCCTGCACAGCCCTGCCCTCCCATACCCACCTCCCAGAGAAGTTGCACCCTCCAGCTCTGCCTGCCCAGCTCAGCCCTTAGCCACTGAAGGGGCCAAAAACTGACCCCCTAAGTCAGCCCTAAGATGATATCTCTGGCCTCTTCAGAGTGCTGAGCTAGTCTGAGGCCTCTCCACCTCTTTCCAGACTGCAGCCTCACCCCTTGGGGAAGGCATTCATAGCTGAGGCACCAGAGGCCTCCACGGCCCCTCCTACAGCTCTGTTCTTTCTTCTCAAGCTGCTGACCCCCTGTTCTGCTCTCCCTCCACTGTCCCCAACTGTCTCTCCCCCACTTTGCCAAGCATCCACCCCTTCAGCCTAAGACTCCTTCCCCTCGGGTACTGGTCCTTCCATTCCAGGACAGCCAGAGTATGGTGGCACCCAATCAGGGAGACCACCATGCAGCCTGAGGGGTTTGTGACCCTCCACCTGGGAGATCCCAGGGGAAGAAGGAAGAAGGGGGGCCTTGGAATTCACTCTGTCCCACACTGTGCTGGCAGATGTTTAACAACCAGCTCTCATAGAGGAGAAAGGAGCCCTGATTGTAGCATCTGCCAATTCCTGAGGTGTAAATGCTTCCACCGGGGCCAGTTTAAAGCTATCAACATGATGTCACTGAAGGCGAGGTTGAGAGGAGACACTAACAATGAGCTCTCTCAAAGCTGAGTGAGCCAGCTCAGCATGGCTCCGCCTGTCCCCTAGGCTGTCCAAGAACTCCAAGCCAGCCCCTTCTCCAGACTGAGAACCCATTACGAATTTAGGTTTGTGAGGAGAGAAGCTCCTCCCCTCTTCCCATTCACCCCCAAAATAAAAAGCCAGGGCCCCTGGATCCCAGACCCCCAATGGGCTATCTGACCCCTGCAAGAGGCAGGCACAGTGTGCTTAACTAAAGCCAACTCTGATCAACAGCCTTAGAGCTCTGAGTCTTCTCCAGACCCCAAGCAGACTTATTTCTGCTCCTCTGTTCCCACCTGAGGTTCTGCAGGAAGGAAACTGCCAGCTCCGCTCCATGCCCCAGCGCTACCAGCTTCCACTGCCTCCACACACTTCCCCACAGCTCCACTCCCTCTCTCCCTGGAGCCCCCCAGAGCCACAGAACCATGTTTTGCCTTAAATCTCAAGACCTCTCACCTTCCCACCTCTTTTGAACTGGACTGCTGACCTCTGCCGGCCCAGCAGAGCAGGCATCAAGAGGAGGAAAGCTTGGGAGAGGGTGAGGGGGGAGGGCGTGGCATCAGGGAAGGAAAGGGCCCCTGGCATTTTCCCGAGTGGAAGCATGTGCAGAGGCTCCCAGGGACCAGACCAGTTTCCAACCTGAACTCCTCCAGCTGTGCCTCTCCCTTCCCTTGAGGGCACAGCATGGAAGGTGGGGTGAACGCAGGAACCTATGCCATAAGACTGGCAGCATCTGCCATCCCCTGGTGGCCTCTGCCCCTCCCTTCAAGCCCCTGACCTGTGTTGCAGACCAGGAGGTATGTGAGGAGGGCTGGAACAAGTACCAGGGCCACTGTTACCGCCACTTCCCGGACCGCGAGACCTGGGTGGATGCTGAGCGCCGGTGTCGGGAGCAGCAGTCACACCCGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAGTGAGTGCGGCGGGGCCTCTGGAGCCTGAGAGGAGAGTGGCGGTGTAGGCAAAGGGCCTCACCTTTCAGAAGGCAGCAGATTTGGGCCTCGTGAGACTGCAGGACAGGGACCTGGGGGAGGGGGAACAGTGTTCCCACAGTCTGAGCTCCCAGAGAGAAGACAACGGTCTTTGGGGCCAGAAGCTGTGGCTGCAGCCAGGGCAGACCCATTGCCAGCCAGAGTCAGCCCAAGACTAAGCTATGGCTGTCACCCGTCCATGCCAGCTTGGAGAGGTGGCCCGAAGTGCACTCCAGGCATGCACGTGCTGAGCCTCTTGTGAGGACCTGAGAAGCACGTGCCTTGCTCCTAGGAGCCCACCCACCTCCTTTCCTCCTCCATCCCCTCTGCCTCCGTGAGCTCAAGTTTCTCAGACACCCTCAGGGTGTCCAGTGTGATGCCTGACACCCTCACCCTTTCCCCAGACAATGCCCAAGACTACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGACTTCCGCTGGTCAGATGGACACCCCATGGTGAGTTCTGCTGTAGGCACAGCTGGTGGCCCAGGGGACAGGGAGTGGGATAGAGACCCCTGGAGAGAGATGCATTCAAACCCCATGCAGACAGCCGCTTACCAGCTGCTGGACCGGGAACCCTTGAGGGCAGGGATTATCTCCTTCATCTCTGCCTCTGGAACCCAGCCCGGGGCTGGACAGATTGAGCTAATGATGGCAAGAGGCAAGGAGCCAGGAAGGAAATGAAGGAATAACAGCCACCACCATGAGGAGTATACGGAAGCTTTAGAGAGGTTTCTTGCCCACACTGAACTCGAGTCTACTCAAGGAGACAGACAGAAAGCAACATAGATGCCAAGTGAATGGTACGGGCACCCAGTGATTCTCTTTGTCCTGAAGCAAGGCTGGAAGGATAAGTCTTGGGAGGACTTCTTGGTGGGCAGAAGCTGGACTTAAGAGCTGTGTTCCTACCATCCATCCCTACCCAATGTGGTCAGCCCTGGTTGGCCCTTCTGGATAAGAGGTGTGGAATCAGCTCATGTACAGAGCCTGTGAGTCTTGGGGGTTCTGAGCTCCTGAGAAGGACCTGAGCCAAGCTGTGTGACTGATTCCCTAGAGGGCCACCGGGTTCCATGGCCCCTAGAACAGCCCTGATCAGATTCCCAGCAGTTTTTGTGCTGCTATCAGATGAGCCTGAAGTTGGTGCTAAAAGAGAAAGGAGATGATGAAGAGGCTCCACGGGGAAGACAGTCGGAGCAGGCCAACCCGCACTGTCCTGCCCTCTCCTTACTCCTTCCCCACTCCCACCCACAGCAATTTGAGAACTGGCGCCCCAACCAGCCTGACAACTTTTTTGCCGCTGGAGAGGACTGTGTGGTGATGATCTGGCACGAGAAGGGCGAGTGGAATGATGTTCCCTGCAATTACCACCTCCCCTTCACGTGTAAAAAGGGCACAGGTAAGCTGGCGCCTGGGAGGGGTCAGGGGAGGATAGGATCAAGACCTCCAGCTACAGGTGAGGCTCTTGCTGTGTGGCCTGGGGTGAGTCCCTTGTCTTCTGGCTGCTGGTGTCTCCTCACTTGTCCAAAAGGCAGACTGGAGCTGACCTAGGGGTCCCTCCTAGCACCGGCATCCCAGGGCCAATGGCAAGGGCAAGCTCGCTGCCAGGGACCGTTTGCAGGGACAGCAAGCACATGAAGGTCACAGGCTAGAAGACAGGACCCCCACTCCACACTCCACACAGTCCCTTGGATAGCAGCAGCAGAGTTACCCACAAGGGCCCCCAGATGGGGAGCCTCCCTGTCTTTGGGATTCCCAAGGCCATCAATCACAGAGTCATAGTTGTCAGGCCTCGATCCTTTGGCTTTCAGTCTGTGGACATTGAGGTGCTGGTAGGATGCGCCCCACTGCCCCTGCTCACCACCTTGCGTCCCCCAGGCCTCCTTTCAGTCTCATTTTCCCCTGAACTAGATGTTTTCA
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Task1_train_21791
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A variant was discovered on Chromosome 15, affecting ACAN (aggrecan). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
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GGTTCTGCAGGAAGGAAACTGCCAGCTCCGCTCCATGCCCCAGCGCTACCAGCTTCCACTGCCTCCACACACTTCCCCACAGCTCCACTCCCTCTCTCCCTGGAGCCCCCCAGAGCCACAGAACCATGTTTTGCCTTAAATCTCAAGACCTCTCACCTTCCCACCTCTTTTGAACTGGACTGCTGACCTCTGCCGGCCCAGCAGAGCAGGCATCAAGAGGAGGAAAGCTTGGGAGAGGGTGAGGGGGGAGGGCGTGGCATCAGGGAAGGAAAGGGCCCCTGGCATTTTCCCGAGTGGAAGCATGTGCAGAGGCTCCCAGGGACCAGACCAGTTTCCAACCTGAACTCCTCCAGCTGTGCCTCTCCCTTCCCTTGAGGGCACAGCATGGAAGGTGGGGTGAACGCAGGAACCTATGCCATAAGACTGGCAGCATCTGCCATCCCCTGGTGGCCTCTGCCCCTCCCTTCAAGCCCCTGACCTGTGTTGCAGACCAGGAGGTATGTGAGGAGGGCTGGAACAAGTACCAGGGCCACTGTTACCGCCACTTCCCGGACCGCGAGACCTGGGTGGATGCTGAGCGCCGGTGTCGGGAGCAGCAGTCACACCTGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAGTGAGTGCGGCGGGGCCTCTGGAGCCTGAGAGGAGAGTGGCGGTGTAGGCAAAGGGCCTCACCTTTCAGAAGGCAGCAGATTTGGGCCTCGTGAGACTGCAGGACAGGGACCTGGGGGAGGGGGAACAGTGTTCCCACAGTCTGAGCTCCCAGAGAGAAGACAACGGTCTTTGGGGCCAGAAGCTGTGGCTGCAGCCAGGGCAGACCCATTGCCAGCCAGAGTCAGCCCAAGACTAAGCTATGGCTGTCACCCGTCCATGCCAGCTTGGAGAGGTGGCCCGAAGTGCACTCCAGGCATGCACGTGCTGAGCCTCTTGTGAGGACCTGAGAAGCACGTGCCTTGCTCCTAGGAGCCCACCCACCTCCTTTCCTCCTCCATCCCCTCTGCCTCCGTGAGCTCAAGTTTCTCAGACACCCTCAGGGTGTCCAGTGTGATGCCTGACACCCTCACCCTTTCCCCAGACAATGCCCAAGACTACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGACTTCCGCTGGTCAGATGGACACCCCATGGTGAGTTCTGCTGTAGGCACAGCTGGTGGCCCAGGGGACAGGGAGTGGGATAGAGACCCCTGGAGAGAGATGCATTCAAACCCCATGCAGACAGCCGCTTACCAGCTGCTGGACCGGGAACCCTTGAGGGCAGGGATTATCTCCTTCATCTCTGCCTCTGGAACCCAGCCCGGGGCTGGACAGATTGAGCTAATGATGGCAAGAGGCAAGGAGCCAGGAAGGAAATGAAGGAATAACAGCCACCACCATGAGGAGTATACGGAAGCTTTAGAGAGGTTTCTTGCCCACACTGAACTCGAGTCTACTCAAGGAGACAGACAGAAAGCAACATAGATGCCAAGTGAATGGTACGGGCACCCAGTGATTCTCTTTGTCCTGAAGCAAGGCTGGAAGGATAAGTCTTGGGAGGACTTCTTGGTGGGCAGAAGCTGGACTTAAGAGCTGTGTTCCTACCATCCATCCCTACCCAATGTGGTCAGCCCTGGTTGGCCCTTCTGGATAAGAGGTGTGGAATCAGCTCATGTACAGAGCCTGTGAGTCTTGGGGGTTCTGAGCTCCTGAGAAGGACCTGAGCCAAGCTGTGTGACTGATTCCCTAGAGGGCCACCGGGTTCCATGGCCCCTAGAACAGCCCTGATCAGATTCCCAGCAGTTTTTGTGCTGCTATCAGATGAGCCTGAAGTTGGTGCTAAAAGAGAAAGGAGATGATGAAGAGGCTCCACGGGGAAGACAGTCGGAGCAGGCCAACCCGCACTGTCCTGCCCTCTCCTTACTCCTTCCCCACTCCCACCCACAGCAATTTGAGAACTGGCGCCCCAACCAGCCTGACAACTTTTTTGCCGCTGGAGAGGACTGTGTGGTGATGATCTGGCACGAGAAGGGCGAGTGGAATGATGTTCCCTGCAATTACCACCTCCCCTTCACGTGTAAAAAGGGCACAGGTAAGCTGGCGCCTGGGAGGGGTCAGGGGAGGATAGGATCAAGACCTCCAGCTACAGGTGAGGCTCTTGCTGTGTGGCCTGGGGTGAGTCCCTTGTCTTCTGGCTGCTGGTGTCTCCTCACTTGTCCAAAAGGCAGACTGGAGCTGACCTAGGGGTCCCTCCTAGCACCGGCATCCCAGGGCCAATGGCAAGGGCAAGCTCGCTGCCAGGGACCGTTTGCAGGGACAGCAAGCACATGAAGGTCACAGGCTAGAAGACAGGACCCCCACTCCACACTCCACACAGTCCCTTGGATAGCAGCAGCAGAGTTACCCACAAGGGCCCCCAGATGGGGAGCCTCCCTGTCTTTGGGATTCCCAAGGCCATCAATCACAGAGTCATAGTTGTCAGGCCTCGATCCTTTGGCTTTCAGTCTGTGGACATTGAGGTGCTGGTAGGATGCGCCCCACTGCCCCTGCTCACCACCTTGCGTCCCCCAGGCCTCCTTTCAGTCTCATTTTCCCCTGAACTAGATGTTTTCATCAAGAAGCCTGAGTCTGCCTGGCTCTCGCCCTCCACACCTTTCTACCTCCCTTTCATCTTCTCTTCATCCCTTTAAAGACCACCCCGTTTGTATTCCCTTCCTGCTGTTCTAAATTGTTGAGGAACCCAGATGTTACAGCCAGCGGCTTCCAGATTCTTAGCGCTGCATGAAAACGTCCAGGGCTCACTGTCAGATGTTGAGGCTGTGTCCCCCACAGTGCCTCGGGTCACAACCAGCATAGGTCATCCCAGGAGACCCTATGAGACCCTTTATAAAGGGTGTTTGCCCCTCAGTGGCCTGCGGAGAGCCCCCTGTGGTGGAGCATGCCAGGACCTTCGGGCAGAAGAAGGACCGGTATGAGATCAATTCCCTGGTGCGGTACCAGTGCACAGAGGGGTTTGTCCAGCGCCACATGCCCACCATCCGGTGCCAGCCCAGCGGGCACTGGGAGGAGCCTCAGATCACCTGCACAGACCGTGAGCATCACCCCGGCCATCTCGCTGAGCACAGGGTTAGATTCTGCCAGCACAGCCTTCCCCCCGTCCCCTCTCCTGGGGACCCTACACCGTCCACAGGGTTGAGCAAGGGAAGGGAGGTCGGGGGGCTGCTCAGTCACAAATAGCTGACCACTGCCCTTAGAAGGGCCACGTACTTGTCCCAGGAGAGGGCTCACTTGGAGGATGAAGGAGAAAAAGCCAGAAAGTCCAAGAAAAATCCAAATCAGGAAAGCCGATAAAGCCTCAGGCGCCTGAGTCCTGGTTTCCACAAGGGAGAGAGGGTAGTCTGGGGAGAGCCTGGGCTCGCCCCACTTTCTTTCCAGGTCCACTGATATCTTTCCATCTCCCTTTCGTCCTAGCCACCACCTACAAACGCAGACTACAGAAGCGGAGCTCACGGCACCCTCGGAGGAGCCGCCCCAGCACAGCCCACTGAGAAGAGCTTCCAGGACGCACCCAGGACGCTGAGCCCAGGAGCCTGCCAGGCTGACGTGCATCCCACCCAGACGGTGTCCTCTTCTTGTCGCTTTTTGTCATATAAGGAATCCCATTAAAGAAGGAAAAAAATAAATCCCACATTTGTGTATGCACCCACTCACCCCTCCAAATCAGCAAAACCGCATCTAATTTGTCCGCCGAATGCCAAAGCAAAGCAAACTTATTATAACCCTTGGACTGAGTTTAGAGACATTTCTTCAATTTCCCATCGTGCCTTTCCAGGGACCAGTGCAGGGACAGGGGGAGAAGGGGAGGGGTTAAGTTAAATAAAGAAGATTATTTTTGTTTCCTGACTTTATCCAAGAGCAGTGCAATCGTTGGTTATTTCACCTCCAGGGAGAGCTAGGGAGGAGGGAGGAGGGCTCCAAAGGAGCTGGAAGGAGCAGAGGCCTGAGAGCAGGAAGAACTCGGAACCGCAGCTGAATGTATTGGATGAGAAGGAGCC
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GGTTCTGCAGGAAGGAAACTGCCAGCTCCGCTCCATGCCCCAGCGCTACCAGCTTCCACTGCCTCCACACACTTCCCCACAGCTCCACTCCCTCTCTCCCTGGAGCCCCCCAGAGCCACAGAACCATGTTTTGCCTTAAATCTCAAGACCTCTCACCTTCCCACCTCTTTTGAACTGGACTGCTGACCTCTGCCGGCCCAGCAGAGCAGGCATCAAGAGGAGGAAAGCTTGGGAGAGGGTGAGGGGGGAGGGCGTGGCATCAGGGAAGGAAAGGGCCCCTGGCATTTTCCCGAGTGGAAGCATGTGCAGAGGCTCCCAGGGACCAGACCAGTTTCCAACCTGAACTCCTCCAGCTGTGCCTCTCCCTTCCCTTGAGGGCACAGCATGGAAGGTGGGGTGAACGCAGGAACCTATGCCATAAGACTGGCAGCATCTGCCATCCCCTGGTGGCCTCTGCCCCTCCCTTCAAGCCCCTGACCTGTGTTGCAGACCAGGAGGTATGTGAGGAGGGCTGGAACAAGTACCAGGGCCACTGTTACCGCCACTTCCCGGACCGCGAGACCTGGGTGGATGCTGAGCGCCGGTGTCGGGAGCAGCAGTCACACCTGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAGTGAGTGCGGCGGGGCCTCTGGAGCCTGAGAGGAGAGTGGCGGTGTAGGCAAAGGGCCTCACCTTTCAGAAGGCAGCAGATTTGGGCCTCGTGAGACTGCAGGACAGGGACCTGGGGGAGGGGGAACAGTGTTCCCACAGTCTGAGCTCCCAGAGAGAAGACAACGGTCTTTGGGGCCAGAAGCTGTGGCTGCAGCCAGGGCAGACCCATTGCCAGCCAGAGTCAGCCCAAGACTAAGCTATGGCTGTCACCCGTCCATGCCAGCTTGGAGAGGTGGCCCGAAGTGCACTCCAGGCATGCACGTGCTGAGCCTCTTGTGAGGACCTGAGAAGCACGTGCCTTGCTCCTAGGAGCCCACCCACCTCCTTTCCTCCTCCATCCCCTCTGCCTCCGTGAGCTCAAGTTTCTCAGACACCCTCAGGGTGTCCAGTGTGATGCCTGACACCCTCACCCTTTCCCCAGACAATGCCCAAGACTACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGACTTCCGCTGGTCAGATGGACACCCCATGGTGAGTTCTGCTGTAGGCACAGCTGGTGGCCCAGGGGACAGGGAGTGGGATAGAGACCCCTGGAGAGAGATGCATTCAAACCCCATGCAGACAGCCGCTTACCAGCTGCTGGACCGGGAACCCTTGAGGGCAGGGATTATCTCCTTCATCTCTGCCTCTGGAACCCAGCCCGGGGCTGGACAGATTGAGCTAATGATGGCAAGAGGCAAGGAGCCAGGAAGGAAATGAAGGAATAACAGCCACCACCATGAGGAGTATACGGAAGCTTTAGAGAGGTTTCTTGCCCACACTGAACTCGAGTCTACTCAAGGAGACAGACAGAAAGCAACATAGATGCCAAGTGAATGGTACGGGCACCCAGTGATTCTCTTTGTCCTGAAGCAAGGCTGGAAGGATAAGTCTTGGGAGGACTTCTTGGTGGGCAGAAGCTGGACTTAAGAGCTGTGTTCCTACCATCCATCCCTACCCAATGTGGTCAGCCCTGGTTGGCCCTTCTGGATAAGAGGTGTGGAATCAGCTCATGTACAGAGCCTGTGAGTCTTGGGGGTTCTGAGCTCCTGAGAAGGACCTGAGCCAAGCTGTGTGACTGATTCCCTAGAGGGCCACCGGGTTCCATGGCCCCTAGAACAGCCCTGATCAGATTCCCAGCAGTTTTTGTGCTGCTATCAGATGAGCCTGAAGTTGGTGCTAAAAGAGAAAGGAGATGATGAAGAGGCTCCACGGGGAAGACAGTCGGAGCAGGCCAACCCGCACTGTCCTGCCCTCTCCTTACTCCTTCCCCACTCCCACCCACAGCAATTTGAGAACTGGCGCCCCAACCAGCCTGACAACTTTTTTGCCGCTGGAGAGGACTGTATGGTGATGATCTGGCACGAGAAGGGCGAGTGGAATGATGTTCCCTGCAATTACCACCTCCCCTTCACGTGTAAAAAGGGCACAGGTAAGCTGGCGCCTGGGAGGGGTCAGGGGAGGATAGGATCAAGACCTCCAGCTACAGGTGAGGCTCTTGCTGTGTGGCCTGGGGTGAGTCCCTTGTCTTCTGGCTGCTGGTGTCTCCTCACTTGTCCAAAAGGCAGACTGGAGCTGACCTAGGGGTCCCTCCTAGCACCGGCATCCCAGGGCCAATGGCAAGGGCAAGCTCGCTGCCAGGGACCGTTTGCAGGGACAGCAAGCACATGAAGGTCACAGGCTAGAAGACAGGACCCCCACTCCACACTCCACACAGTCCCTTGGATAGCAGCAGCAGAGTTACCCACAAGGGCCCCCAGATGGGGAGCCTCCCTGTCTTTGGGATTCCCAAGGCCATCAATCACAGAGTCATAGTTGTCAGGCCTCGATCCTTTGGCTTTCAGTCTGTGGACATTGAGGTGCTGGTAGGATGCGCCCCACTGCCCCTGCTCACCACCTTGCGTCCCCCAGGCCTCCTTTCAGTCTCATTTTCCCCTGAACTAGATGTTTTCATCAAGAAGCCTGAGTCTGCCTGGCTCTCGCCCTCCACACCTTTCTACCTCCCTTTCATCTTCTCTTCATCCCTTTAAAGACCACCCCGTTTGTATTCCCTTCCTGCTGTTCTAAATTGTTGAGGAACCCAGATGTTACAGCCAGCGGCTTCCAGATTCTTAGCGCTGCATGAAAACGTCCAGGGCTCACTGTCAGATGTTGAGGCTGTGTCCCCCACAGTGCCTCGGGTCACAACCAGCATAGGTCATCCCAGGAGACCCTATGAGACCCTTTATAAAGGGTGTTTGCCCCTCAGTGGCCTGCGGAGAGCCCCCTGTGGTGGAGCATGCCAGGACCTTCGGGCAGAAGAAGGACCGGTATGAGATCAATTCCCTGGTGCGGTACCAGTGCACAGAGGGGTTTGTCCAGCGCCACATGCCCACCATCCGGTGCCAGCCCAGCGGGCACTGGGAGGAGCCTCAGATCACCTGCACAGACCGTGAGCATCACCCCGGCCATCTCGCTGAGCACAGGGTTAGATTCTGCCAGCACAGCCTTCCCCCCGTCCCCTCTCCTGGGGACCCTACACCGTCCACAGGGTTGAGCAAGGGAAGGGAGGTCGGGGGGCTGCTCAGTCACAAATAGCTGACCACTGCCCTTAGAAGGGCCACGTACTTGTCCCAGGAGAGGGCTCACTTGGAGGATGAAGGAGAAAAAGCCAGAAAGTCCAAGAAAAATCCAAATCAGGAAAGCCGATAAAGCCTCAGGCGCCTGAGTCCTGGTTTCCACAAGGGAGAGAGGGTAGTCTGGGGAGAGCCTGGGCTCGCCCCACTTTCTTTCCAGGTCCACTGATATCTTTCCATCTCCCTTTCGTCCTAGCCACCACCTACAAACGCAGACTACAGAAGCGGAGCTCACGGCACCCTCGGAGGAGCCGCCCCAGCACAGCCCACTGAGAAGAGCTTCCAGGACGCACCCAGGACGCTGAGCCCAGGAGCCTGCCAGGCTGACGTGCATCCCACCCAGACGGTGTCCTCTTCTTGTCGCTTTTTGTCATATAAGGAATCCCATTAAAGAAGGAAAAAAATAAATCCCACATTTGTGTATGCACCCACTCACCCCTCCAAATCAGCAAAACCGCATCTAATTTGTCCGCCGAATGCCAAAGCAAAGCAAACTTATTATAACCCTTGGACTGAGTTTAGAGACATTTCTTCAATTTCCCATCGTGCCTTTCCAGGGACCAGTGCAGGGACAGGGGGAGAAGGGGAGGGGTTAAGTTAAATAAAGAAGATTATTTTTGTTTCCTGACTTTATCCAAGAGCAGTGCAATCGTTGGTTATTTCACCTCCAGGGAGAGCTAGGGAGGAGGGAGGAGGGCTCCAAAGGAGCTGGAAGGAGCAGAGGCCTGAGAGCAGGAAGAACTCGGAACCGCAGCTGAATGTATTGGATGAGAAGGAGCC
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Task1_train_21792
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A mutation on Chromosome 15 affecting RLBP1 (retinaldehyde binding protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Retinitis punctata albescens
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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Task1_train_21793
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Here is a mutation in RLBP1 (retinaldehyde binding protein 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Bothnia retinal dystrophy
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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Task1_train_21794
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A variant has been detected on Chromosome 15 in RLBP1 (retinaldehyde binding protein 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Retinal dystrophy
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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Task1_train_21795
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This variant lies on Chromosome 15 and affects the gene RLBP1 (retinaldehyde binding protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; RLBP1-related disorder
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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Task1_train_21796
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Given this context: Chromosome 15, gene RLBP1 (retinaldehyde binding protein 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Retinitis pigmentosa
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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Task1_train_21797
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This sequence change occurs on Chromosome 15, altering RLBP1 (retinaldehyde binding protein 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Newfoundland cone-rod dystrophy
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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Task1_train_21798
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Here is a mutation in RLBP1 (retinaldehyde binding protein 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Pigmentary retinal dystrophy
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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Task1_train_21799
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A variant on Chromosome 15 in gene RLBP1 (retinaldehyde binding protein 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Bothnia retinal dystrophy
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCATGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAACCTTACACAAAAATCACTGTCTTAAAGCTTCAAGGGCAGGTGGAAATATAACTATCCCCAGTTCTTCTTGTTCAAGGGAATTCCCCCTCCTTTATTACCCATCCCCCAACTTGAGAACAGGGTGACACCTGAGCTCACTCGGGCTTAGGGAGTCTAAGGGGGGACCACAGTCATCTCAAGCAGCCCTTTCCTAGCCTTGGGTCCAGGACAGTTGAGGAGAGGCCCAGAGATTCTAACTACAGTTCAGCTGGCAGGAGATGTTTTCAGAAGGCTGTGTTCTCAGCTTGGGCCTGGGGGCCAAAGAGCTGCTCAGCAACGGCCTTGCCATCATACTTGGGCAGCGTGCCCCCGAAGTCAGAGGGCAGGATGTTCTCATCGATCTCCTGGTAGAAACCAGAAAGGTCATCCCCGTGGACAAAGACCTGCAGGGAAGCAAGGGAGACAGAACTGAGCAGGAGGAGGTGCCCTAAGGATGAGGGTTGAGGGAGGAAAGGGGCAGGAGGACAAAGCCCCATCATGTGCAGTCTTTGCCTGGCGACACCTCTCTCCGCAGGTCTCCATGTTGGGTGTCAGTGGGATCCACATAGCTCAGGACCATGGTAGAGTGTGAGGAGGGCTCAGGTGAGGCCCCACCCTCAGCCCTCTTGTCTCATTGTCTGGGCGGCCCACGTACTCACCCTCTCAAGCAGCTTGCTCTTCAAGAAGGGCTTGACCACATTGTAGGTCGTGGTGAAGTACCATGGCTGGTGGATGAAGTGGATGGCTTTGAACCGGGCTGGGAAGGAATCCTGCGGTGACAGAGAGATACCCCGTTCCCCATGGCCCCAGTGACCTCAGAGGCTCCCACTCATTCCCTGCTGCCTCTCCTCATGGCATAGAACAGACTTGTCCAGCATCACAGGGCTGCCCTGGAGAAGGGCCCACTGAAGGTCCTATTTCCAGGCCAGCAACTAGGGATCCCTGGCTCACTGTGGCCCAGACTGCACGGAGGAAGCCCCAAGATTCATAAGACCCAACCCTCTCCCTGCTGATGCAAATTAAACTGGGAATTAGGAAAAGAAATGAAAGTAGCCTTGCTTGACCTTTTGGTGAGTTTTTTCAAACCCACTTGCCTGCCGAAGGGACTGCAAACTATTACAAACGACAGGAACAGTATTATCATCCCTCATTGTCCATCAGCCCCTCCCACAACCTCCACCTCCCACCCCTCCTTTCCCAATACACAGAGCAGATCTAAGATGGCTCTAAGAAAGGACTCCTGACATGTCAGCACATATAGGAGTGAGTTATCAGAGGGTTAGTGATAATCCCTTTCTCGGGGTGAATCCACATTCAAAGAGAGGCAGTGCGACATATGTGGACAGACAACATGGGATTCCAGGTCAGAAGATGCAGGTTCAAGTCTGGCCTCTGCCGCTTTATTGCTGTGTGACCTCGAGATGTCTCTTAAATCTCTGAGCCTTCGTTTCCAGGTTTGAAAAATGAAGCAGGGAAGGAGGGAGAGAATGCTCTCAAGGAGTCGATGGAAGAATGAAAGGGAATACTTGGCAAACTGTCAATCACTATGCAGGTGCTTATGGTTGGGACTGTGGCTGTCACTGCTCTTTATGGCGCGAGGTGGTCCAACTTCTCAGTTCCCTGCAAGCACCATGAAAGGAGGCCCAGCCTCTCAGCCTCCCCAGCTGTGGGAGGCTGCCGTGCGACAGAACTCTAAGCCTCACCTGGAGCTTGTCCACCATCTTCCTGAGATCTGAAGTCCGGAGACTAGCAGCCTGCTGCATGGTAAAGCCCTTGAAGTTCTCAATGATGCAGAAGCCATTGATTTGAGTTTCCTCATTCTCCAGCAGCTTCTCCAGGATGAAGCAATATGCCTGCAAGATCTTGGGCACAGAGAGAACAGGCTGTAAGATCTAACCCGCAACAATAATTAAGGCTTGAGGTCCTGAGGGGAGAGCTAATTGGTACATTCTTCACTGGGGTAATTTGCTGCAGGCTTTGATCTCGGACATTCCACTTCTGTGAATGTATACCAAGAAAACAAGTTCAAATGTCACATCCATGCTTAGAGGCCAGAAGGTTTATCCCAGTACTCTTGCAATAGTGGGAACATTGGAGACAACCTAAATGTCCAACAATGGGAACTGGTGAAATTATGGTACATTTATGCCATGGAATACTCTGGAACAATTAAAAACAATACAGAAGACTAATAATACAGGAAAATGTGCATGATATATTATTGTAGAATATAATCCCATTATTGTAAGAAAAATGTGTGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAAGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATCAGCTGAGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCTCTCCAACCTAGGCGACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAAATGTGTGTGTGTGTGCGCGTGTGTGTGTGTGTGTATGTGCGTGCATACATGTATGAAAAGATTGGAAGGATGTCAATAGTAGAGCTCTCTAGGTAGTAGAATTGCAAATGATTTTAAATTTGTCTGTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCGATTCCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGACAGGGTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACTTCAGGCAATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAG
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Subsets and Splits
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