Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_27100
Chromosome 19 houses a mutation in gene RYR1 (ryanodine receptor 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Central core myopathy
GGCGCCACTGCATTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGA
GGCGCCACTGCATTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACAACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGA
Task1_train_27101
A mutation in RYR1 (ryanodine receptor 1), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; not provided
GCATTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCC
GCATTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGAAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCC
Task1_train_27102
A mutation in RYR1 (ryanodine receptor 1), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; RYR1-related disorder
TTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCT
TTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGAAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCT
Task1_train_27103
This variant affects the gene RYR1 (ryanodine receptor 1) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; RYR1-related disorder
CTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCC
CTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCATAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCC
Task1_train_27104
This mutation is located in gene RYR1 (ryanodine receptor 1) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Central core myopathy
CTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCC
CTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCATAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCC
Task1_train_27105
The gene RYR1 (ryanodine receptor 1), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; RYR1-related disorder
GGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAA
GGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCCTACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAA
Task1_train_27106
A variant was discovered on Chromosome 19, affecting RYR1 (ryanodine receptor 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Central core myopathy
GGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAA
GGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCCTACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAA
Task1_train_27107
Given this variant in gene RYR1 (ryanodine receptor 1) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; RYR1-related disorder
CTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAGGAAAAAAAAAAAAGAAAGAAA
CTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCTCTCTTTTTCTCTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCCTATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGGACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGGGAGTTAGAGCAGGAGCAGGAGCTGAGTTCTCTGCTCAGCTCGGCCACATGCCAGTCCTGTGCGCCTGGGTGCAGGCCCTCAGCTCTTGGCAACACCCACTGATTCTGTTAAGCATCTTTGGTTTCACATAAGCTAAACAGAAGTTTGCAGGGAGGAAGAAATGGGCCACTCACAGAATGGAAGGAATGGGTTAAGAACCAGGCCTCCTGAAGGACAAAGGGACCCTTGGGGTCTTGCCAGGGGTCTAGATAACAGGACAGTAAGGTAGACTAGAGAGATCGAAGCATGGCTTCTGTGGGACCCAGAAGTCCCACAGTGGGACTGCCCACTGGCGCATGACGATAGGCAAGGTGCTTACCATCCCTGTGCCTCAACTCCCTCATCTGTAAAATGGAATACCTCTTAGAGCTGTGGGGATTGAAAGAGGATAAGGCACCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATTACCTGAAGTCCGGAATTCAAGACCAGCCTGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCCTGGTGGCGGGCACCTGTAATCCAAGCTATGCAGGAGGCTGAGGCAGTAGAATCCCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTAGGTGACAAGAGTGAAACTCCGTCCACCCCACCAAAAAAAAGAGGATGAGTGTGTGTAAGGCAGTTAGAGCAACAGTACCTGGCATATAAAAAGCACTGTGTAAATGTTTAGCTGCTACTAATTTTCATGTTAGTGTTAATATTAGTGGGCAGTCTCTTTAGGGCTCCACTATCAAGATGAACCAACTCTGTCTTCAGTTCTGTGCCACTCAGTTCAATAGGCTAATTCCCAGGTCAGAGTCTGATTTGCTAGCTACAGCCCTAGGCCCAACCCTTGATCTTGATTGACAGCCACACCAAGACTGTATCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCTGTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCCCAAGGTGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCTCAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGGTCTCCAGTAAGGACGACATTCAGATTGGGAACGGACACGGCTTATAGCTGAGGAACCAGGTTCTGGACCACTGTCTTGATACTTTGCTATTGAACTAGAGTTCTTTGGGCTTAAAACTTTCATACATGCTATTCCCTCTGCCTGCAATACTTTGCCCTGCTTCCACCTCCTTGCACCTGCCTGTTTTATTCATCCTTCAGTTCTGAGTTCAGACCTCCCTCCCTTGGGAAGCCCCAGGTGGCATCAGGCACCACTCCTGGGCTCCCACAGCTCCCCTGTTCTCACATCCTGGCCCGATCCCTCTGCCTGTGCCCCACCCCCATTCCAGCCCTGACCCCTATATGCCCCTACATCCCAGCCCTGACACCCCTGCCTGTGCCTCTCCACTGCCAGCCCCGACTGCTCTGCCTGTGCCCCCCAATTCCAGCCCTGACTCTTCTATCTATGCCCCCTATCCCGGCCCTGACCCCTCTATCTATGCACCACATTCCAGCCCTGACCCCCCTGCCTGTGCCTCCCCCATCCCTGCCCTGACCCCTCTGCCCATGTTCCCCACATCCCAGCCCTAAGCCCTCTGCCTGGGCCTCATTTCTACCCTTATCACTGGGAAAGCACTTCTGATGTGGGGTCACACACAGACCCCAGCAAGATGTCATGGCTTCTGCTGAGACTATGGTCCAGCCAAGGTGCCTGACGCCCACCTTTGGCCTCCTCCCACTATCCAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGGAAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCAGCAGGAGGGGACCTGGGTTTCCACCCAGTCCAGGCCTGGACCCCAAAAAACTAGGGTTTCGGTCCGGGCACGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCTAAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAATCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTGGGAAGGCTGAATCAGAAGAATCACTTGAACCTGGGATGTGGAGGATGCAGTGAGCCGAGATCGCACCATTACACTCCAGCCTGGGCAACAAGAGTGAAATTCCACCCCCTTCCCCCCAGACAAAAAAAAAAAAACCTAGGGTTTCAGTCCCTGCAGGCCCTGCCTCATTCTCCCCAAGTCTTACTCTTTCTTTCCATAAAAGAGGCACATTTCCCATGCATTACAGCATCTGTGTGGGTGAGGTTGGCACACAGAGATTCCTAGACTTGAGGCCTGGAGGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAGGAAAAAAAAAAAAGAAAGAAA
Task1_train_27108
The gene RYR1 (ryanodine receptor 1) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Malignant hyperthermia, susceptibility to, 1
CAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAGGAAAAAAAAAAAAGAAAGAAAAGAAATCATTAGGGGCCCTAGGGGCCGCACTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCCCTTGTGCCCAGGAGTTCAAGACCAGCCTGGACAACATAGAGAGACCTATATCTTTAGAAAAAAAAAACTAAAAAGTTAGCCAGACATGCTAGCCTGGCTAGCGCATGCCTGTAGTCTTAGCTGTTTGGGAGGCTGAGGCTGGAGGATGGCGTGAGCCCAGGAGTTCTAGGCTGCAGTGAGCTATGATTATGCCACTGTCCTTCAGCCTGAGTGACAGAGCAAGACCCTATGTCTGGGGGCCAAAAAAAAAACAAGTAGGAATTGGAAGTGCAATGAATCAAAGCACTTCAAATAATTGCAAATCCGTGAATTCATAATCAATCATCGCTCCACCCTCTCAAAAAACAAAACTCGTGGCTGGGCACAGTGGCTCACATCTGTAATCAATCCTAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGCAGTGGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCGAGGAGGCGGAGCTTGCAGTGAGCCCAGATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACTCGTTGGCCATATTTGAGGATGTTAGGGCATCAATTTGTCACTTGGAAAACTGGTGAATAAAGGGCCAGAATCATGAAATTAAATGAAATCAACCAGTATGAGGAAGCAGGCAGTTGCACTGGAGTTGGTGCTGAGTTAGGCTGCTGTTTTGGACTCCTCCCCACCCATCACCACGCCAGAGCCTCTTTATCAGAGTGCCATTCTGAGGTCTTTTTTGCACATCTGGCTCTGAATGCAAATTCTCTGCCTCATTTGGGGTCTAGCAAAGATGGCAGTGGGGTCCCCACTGTTCAAGGTTCCTACAAGAAAAGCAGTGGAGCCAGGCGCAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGGGGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGGGGCATCACCTGAGGTCAGAAGTTCAAGAACAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACGAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGTTTGCAGTGAGCAGATATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAGGAAAAAGAAAAACAGTGGAGTTTCAGCCAACCCTGTCGTGGCTGACAGCTCTGATCCCTCTGGCCCTAACATCTTATACTCACGCTTTCTCTCTCTCTCTCTGCAGGTCTTTCCCTAGCAACTACTGGGACAAGTTTGTCAAGCGCAAGGTGAGAGGACATGGATGCCCTGGGTCCTGGATTGGGTCCCTGCCTGCCACCAGGCCATCACAGGCCTGCCAAGCACTTGCTTGGTGTGTGACCTTGGGCAAGAGGTTTTTTTGCCTTTCTGAGTAGCACCTCAGTTTCCCCATGGGGAGATGGGCATAGTAAGCTTGCTTCCCTTTCTTGAATGGGCACATGGAAAGAGCAGAGCATCAAGGCCAAGCGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGATGGATGTAACACTTGAGCTCAGGAATTTCACAGCAGCCTGGGCAACATGGCAAAATGCCGTCTCTACCAAAAATACAAAAAATTAGCACGGTACCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATTGCACCACTGCACTACAGCCTGGGTGAAAGAGTGAGACCTCATCTCAAAAAAAATAATAATAACAAAAAATAAGAAAGCATAGCATAGTGCCTGGCACAGAGTGAATACTCAAGAAATACTGGTTGAGGCCAGGAGCAGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGCAAAACTGCATCTCTACTAAAAACACAAAAATTAGCTGGGCACCTGTAATCCCAGCTACTTGAGAGACTGAGGCAGGAGAATCACTTGAACCCGGGCGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAGAGAGAAATACTAGTTGAAAGAGAGGAAGTTAGCAATATGTCTTAAGCACACACACTCTGGAACCAGATTGCCTGCTTTTCTTTTGTTTTTTTCTTTGAGACGGAGTCTCGCTCTGTTACCCAGTCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTGGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGCGCCCAGCCGATTGCCTGCCTTTCTATTTCTGGCTTATTGACCTTTCTGTACCTCATACTCAAAGTGGGGTAATAATACGGCCAACCCTACAGGGTTGTTGTATTATGTACTACATGAGCAGTATCTGGCATATAGGAGAACACTAGATATGTTGGCTGTTACTATAATTCGTTCACTCATATTTACGGAGCACCTATTATGTGCCAGGAACAGTTTTAGAAACCTGGGATCCCGTGTTAAACAAAACAGTGATTCTGACCTTCAAGTTGGAAAGATAGATGATGAACCCAAGTACAGTATGTCAGTGGTGATAAATGCTGTAGAAAAAAACAAAGTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGACCAACACAGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGGTTGCAGTGAGCAGAGATGGCGCCACTGCCCTCCAGCCTGGGTGACAGAGGGAGACTGTCTCAAAAAAAAAAATGCACCTCCCATTTCTCACTCAGAGTTTGGAGTGTCCCCAGAACCCCCTTGCAGGCCACGACACACACCCACACTCCAGCTGTGTCTACACAGCCTGATGCTCTCTTGTGCAGGTCCTGGACAAACATGGGGACATCTACGGGCGGGAGCGGATTGCTGAGCTACTGGGCATGGACCTGGCCACACTAGAGATCACAGCCCA
CAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAGGAAAAAAAAAAAAGAAAGAAAAGAAATCATTAGGGGCCCTAGGGGCCGCACTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCCCTTGTGCCCAGGAGTTCAAGACCAGCCTGGACAACATAGAGAGACCTATATCTTTAGAAAAAAAAAACTAAAAAGTTAGCCAGACATGCTAGCCTGGCTAGCGCATGCCTGTAGTCTTAGCTGTTTGGGAGGCTGAGGCTGGAGGATGGCGTGAGCCCAGGAGTTCTAGGCTGCAGTGAGCTATGATTATGCCACTGTCCTTCAGCCTGAGTGACAGAGCAAGACCCTATGTCTGGGGGCCAAAAAAAAAACAAGTAGGAATTGGAAGTGCAATGAATCAAAGCACTTCAAATAATTGCAAATCCGTGAATTCATAATCAATCATCGCTCCACCCTCTCAAAAAACAAAACTCGTGGCTGGGCACAGTGGCTCACATCTGTAATCAATCCTAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGCAGTGGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCGAGGAGGCGGAGCTTGCAGTGAGCCCAGATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACTCGTTGGCCATATTTGAGGATGTTAGGGCATCAATTTGTCACTTGGAAAACTGGTGAATAAAGGGCCAGAATCATGAAATTAAATGAAATCAACCAGTATGAGGAAGCAGGCAGTTGCACTGGAGTTGGTGCTGAGTTAGGCTGCTGTTTTGGACTCCTCCCCACCCATCACCACGCCAGAGCCTCTTTATCAGAGTGCCATTCTGAGGTCTTTTTTGCACATCTGGCTCTGAATGCAAATTCTCTGCCTCATTTGGGGTCTAGCAAAGATGGCAGTGGGGTCCCCACTGTTCAAGGTTCCTACAAGAAAAGCAGTGGAGCCAGGCGCAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGGGGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGGGGCATCACCTGAGGTCAGAAGTTCAAGAACAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACGAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGTTTGCAGTGAGCAGATATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAGGAAAAAGAAAAACAGTGGAGTTTCAGCCAACCCTGTCGTGGCTGACAGCTCTGATCCCTCTGGCCCTAACATCTTATACTCACGCTTTCTCTCTCTCTCTCTGCAGGTCTTTCCCTAGCAACTACTGGGACAAGTTTGTCAAGCGCCAGGTGAGAGGACATGGATGCCCTGGGTCCTGGATTGGGTCCCTGCCTGCCACCAGGCCATCACAGGCCTGCCAAGCACTTGCTTGGTGTGTGACCTTGGGCAAGAGGTTTTTTTGCCTTTCTGAGTAGCACCTCAGTTTCCCCATGGGGAGATGGGCATAGTAAGCTTGCTTCCCTTTCTTGAATGGGCACATGGAAAGAGCAGAGCATCAAGGCCAAGCGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGATGGATGTAACACTTGAGCTCAGGAATTTCACAGCAGCCTGGGCAACATGGCAAAATGCCGTCTCTACCAAAAATACAAAAAATTAGCACGGTACCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATTGCACCACTGCACTACAGCCTGGGTGAAAGAGTGAGACCTCATCTCAAAAAAAATAATAATAACAAAAAATAAGAAAGCATAGCATAGTGCCTGGCACAGAGTGAATACTCAAGAAATACTGGTTGAGGCCAGGAGCAGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGCAAAACTGCATCTCTACTAAAAACACAAAAATTAGCTGGGCACCTGTAATCCCAGCTACTTGAGAGACTGAGGCAGGAGAATCACTTGAACCCGGGCGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAGAGAGAAATACTAGTTGAAAGAGAGGAAGTTAGCAATATGTCTTAAGCACACACACTCTGGAACCAGATTGCCTGCTTTTCTTTTGTTTTTTTCTTTGAGACGGAGTCTCGCTCTGTTACCCAGTCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTGGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGCGCCCAGCCGATTGCCTGCCTTTCTATTTCTGGCTTATTGACCTTTCTGTACCTCATACTCAAAGTGGGGTAATAATACGGCCAACCCTACAGGGTTGTTGTATTATGTACTACATGAGCAGTATCTGGCATATAGGAGAACACTAGATATGTTGGCTGTTACTATAATTCGTTCACTCATATTTACGGAGCACCTATTATGTGCCAGGAACAGTTTTAGAAACCTGGGATCCCGTGTTAAACAAAACAGTGATTCTGACCTTCAAGTTGGAAAGATAGATGATGAACCCAAGTACAGTATGTCAGTGGTGATAAATGCTGTAGAAAAAAACAAAGTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGACCAACACAGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGGTTGCAGTGAGCAGAGATGGCGCCACTGCCCTCCAGCCTGGGTGACAGAGGGAGACTGTCTCAAAAAAAAAAATGCACCTCCCATTTCTCACTCAGAGTTTGGAGTGTCCCCAGAACCCCCTTGCAGGCCACGACACACACCCACACTCCAGCTGTGTCTACACAGCCTGATGCTCTCTTGTGCAGGTCCTGGACAAACATGGGGACATCTACGGGCGGGAGCGGATTGCTGAGCTACTGGGCATGGACCTGGCCACACTAGAGATCACAGCCCA
Task1_train_27109
Given this variant in gene RYR1 (ryanodine receptor 1) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Malignant hyperthermia, susceptibility to, 1
CTCTCTCTGCAGGTCTTTCCCTAGCAACTACTGGGACAAGTTTGTCAAGCGCAAGGTGAGAGGACATGGATGCCCTGGGTCCTGGATTGGGTCCCTGCCTGCCACCAGGCCATCACAGGCCTGCCAAGCACTTGCTTGGTGTGTGACCTTGGGCAAGAGGTTTTTTTGCCTTTCTGAGTAGCACCTCAGTTTCCCCATGGGGAGATGGGCATAGTAAGCTTGCTTCCCTTTCTTGAATGGGCACATGGAAAGAGCAGAGCATCAAGGCCAAGCGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGATGGATGTAACACTTGAGCTCAGGAATTTCACAGCAGCCTGGGCAACATGGCAAAATGCCGTCTCTACCAAAAATACAAAAAATTAGCACGGTACCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATTGCACCACTGCACTACAGCCTGGGTGAAAGAGTGAGACCTCATCTCAAAAAAAATAATAATAACAAAAAATAAGAAAGCATAGCATAGTGCCTGGCACAGAGTGAATACTCAAGAAATACTGGTTGAGGCCAGGAGCAGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGCAAAACTGCATCTCTACTAAAAACACAAAAATTAGCTGGGCACCTGTAATCCCAGCTACTTGAGAGACTGAGGCAGGAGAATCACTTGAACCCGGGCGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAGAGAGAAATACTAGTTGAAAGAGAGGAAGTTAGCAATATGTCTTAAGCACACACACTCTGGAACCAGATTGCCTGCTTTTCTTTTGTTTTTTTCTTTGAGACGGAGTCTCGCTCTGTTACCCAGTCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTGGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGCGCCCAGCCGATTGCCTGCCTTTCTATTTCTGGCTTATTGACCTTTCTGTACCTCATACTCAAAGTGGGGTAATAATACGGCCAACCCTACAGGGTTGTTGTATTATGTACTACATGAGCAGTATCTGGCATATAGGAGAACACTAGATATGTTGGCTGTTACTATAATTCGTTCACTCATATTTACGGAGCACCTATTATGTGCCAGGAACAGTTTTAGAAACCTGGGATCCCGTGTTAAACAAAACAGTGATTCTGACCTTCAAGTTGGAAAGATAGATGATGAACCCAAGTACAGTATGTCAGTGGTGATAAATGCTGTAGAAAAAAACAAAGTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGACCAACACAGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGGTTGCAGTGAGCAGAGATGGCGCCACTGCCCTCCAGCCTGGGTGACAGAGGGAGACTGTCTCAAAAAAAAAAATGCACCTCCCATTTCTCACTCAGAGTTTGGAGTGTCCCCAGAACCCCCTTGCAGGCCACGACACACACCCACACTCCAGCTGTGTCTACACAGCCTGATGCTCTCTTGTGCAGGTCCTGGACAAACATGGGGACATCTACGGGCGGGAGCGGATTGCTGAGCTACTGGGCATGGACCTGGCCACACTAGAGATCACAGCCCACAATGAGCGCAAGCCCAACCCGCCGCCAGGGCTGCTGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGG
CTCTCTCTGCAGGTCTTTCCCTAGCAACTACTGGGACAAGTTTGTCAAGCGCAAGGTGAGAGGACATGGATGCCCTGGGTCCTGGATTGGGTCCCTGCCTGCCACCAGGCCATCACAGGCCTGCCAAGCACTTGCTTGGTGTGTGACCTTGGGCAAGAGGTTTTTTTGCCTTTCTGAGTAGCACCTCAGTTTCCCCATGGGGAGATGGGCATAGTAAGCTTGCTTCCCTTTCTTGAATGGGCACATGGAAAGAGCAGAGCATCAAGGCCAAGCGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGATGGATGTAACACTTGAGCTCAGGAATTTCACAGCAGCCTGGGCAACATGGCAAAATGCCGTCTCTACCAAAAATACAAAAAATTAGCACGGTACCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATTGCACCACTGCACTACAGCCTGGGTGAAAGAGTGAGACCTCATCTCAAAAAAAATAATAATAACAAAAAATAAGAAAGCATAGCATAGTGCCTGGCACAGAGTGAATACTCAAGAAATACTGGTTGAGGCCAGGAGCAGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGCAAAACTGCATCTCTACTAAAAACACAAAAATTAGCTGGGCACCTGTAATCCCAGCTACTTGAGAGACTGAGGCAGGAGAATCACTTGAACCCGGGCGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAGAGAGAAATACTAGTTGAAAGAGAGGAAGTTAGCAATATGTCTTAAGCACACACACTCTGGAACCAGATTGCCTGCTTTTCTTTTGTTTTTTTCTTTGAGACGGAGTCTCGCTCTGTTACCCAGTCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTGGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGCGCCCAGCCGATTGCCTGCCTTTCTATTTCTGGCTTATTGACCTTTCTGTACCTCATACTCAAAGTGGGGTAATAATACGGCCAACCCTACAGGGTTGTTGTATTATGTACTACATGAGCAGTATCTGGCATATAGGAGAACACTAGATATGTTGGCTGTTACTATAATTCGTTCACTCATATTTACGGAGCACCTATTATGTGCCAGGAACAGTTTTAGAAACCTGGGATCCCGTGTTAAACAAAACAGTGATTCTGACCTTCAAGTTGGAAAGATAGATGATGAACCCAAGTACAGTATGTCAGTGGTGATAAATGCTGTAGAAAAAAACAAAGTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGACCAACACAGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGGTTGCAGTGAGCAGAGATGGCGCCACTGCCCTCCAGCCTGGGTGACAGAGGGAGACTGTCTCAAAAAAAAAAATGCACCTCCCATTTCTCACTCAGAGTTTGGAGTGTCCCCAGAACCCCCTTGCAGGCCACGACACACACCCACACTCCAGCTGTGTCTACACAGCCTGATGCTCTCTTGTGCAGGTCCTGGACAAACATGGGGACATCTACGGGCGGGAGCAGATTGCTGAGCTACTGGGCATGGACCTGGCCACACTAGAGATCACAGCCCACAATGAGCGCAAGCCCAACCCGCCGCCAGGGCTGCTGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGG
Task1_train_27110
The variant affects gene RYR1 (ryanodine receptor 1), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Central core myopathy
ATGAGCGCAAGCCCAACCCGCCGCCAGGGCTGCTGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAG
ATGAGCGCAAGCCCAACCCGCCGCCAGGGCTGCTGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATTTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAG
Task1_train_27111
Here is a mutation in RYR1 (ryanodine receptor 1) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Central core myopathy
CAAGCCCAACCCGCCGCCAGGGCTGCTGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGA
CAAGCCCAACCCGCCGCCAGGGCTGCTGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGGCATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGA
Task1_train_27112
Given this variant in gene RYR1 (ryanodine receptor 1) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; RYR1-related disorder
TGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGC
TGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGTGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGC
Task1_train_27113
A variant found in Chromosome 19 affects RYR1 (ryanodine receptor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Lynch syndrome 5
TGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGC
TGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGTGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGC
Task1_train_27114
This variant affects the gene RYR1 (ryanodine receptor 1) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Malignant hyperthermia, susceptibility to, 1
TGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGC
TGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGTGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGC
Task1_train_27115
This alteration occurs within gene RYR1 (ryanodine receptor 1) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; not provided
CCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGG
CCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCAACCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGG
Task1_train_27116
This variant lies on Chromosome 19 and affects the gene RYR1 (ryanodine receptor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; not provided
CTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATA
CTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCCGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATA
Task1_train_27117
This sequence change occurs on Chromosome 19, altering RYR1 (ryanodine receptor 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; RYR1-related disorder
ATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCA
ATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCCTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCA
Task1_train_27118
Here is a genetic alteration in RYR1 (ryanodine receptor 1) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; RYR1-related disorder
TTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCAT
TTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTCCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCAT
Task1_train_27119
Consider a variant on Chromosome 19 in gene RYR1 (ryanodine receptor 1). Determine its clinical classification and disease relevance.
Pathogenic; Central core myopathy
ATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCATCA
ATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCGACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCATCA
Task1_train_27120
This alteration in RYR1 (ryanodine receptor 1) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; RYR1-related disorder
TTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCATCATTATCCACAA
TTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCCCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCATCATTATCCACAA
Task1_train_27121
Here is a mutation in RYR1 (ryanodine receptor 1) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; RYR1-related disorder
TTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCATCATTATCCACAATTA
TTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCACGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCATCATTATCCACAATTA
Task1_train_27122
This mutation occurs in RYR1 (ryanodine receptor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Central core myopathy
AAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCATCATTATCCACAATTAAAAGTT
AAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTGCAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCATCATTATCCACAATTAAAAGTT
Task1_train_27123
A variant has been detected on Chromosome 19 in RYR1 (ryanodine receptor 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Central core myopathy
CCACAGCCTCGTTCTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAA
CCACAGCCTCGTTCTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGCGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAA
Task1_train_27124
A variant found in Chromosome 19 affects RYR1 (ryanodine receptor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Central core myopathy
CTCGTTCTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGC
CTCGTTCTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCCGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGC
Task1_train_27125
A variant on Chromosome 19 in gene RYR1 (ryanodine receptor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; RYR1-related disorder
CTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCG
CTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGTCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCG
Task1_train_27126
This gene mutation involves RYR1 (ryanodine receptor 1) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; Central core myopathy
ATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGC
ATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGTCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGC
Task1_train_27127
A variant was discovered in gene RYR1 (ryanodine receptor 1), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; RYR1-related disorder
ACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGC
ACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGAGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGC
Task1_train_27128
This variant affects gene RYR1 (ryanodine receptor 1) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; Central core myopathy
CCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACA
CCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACGGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACA
Task1_train_27129
This genomic variant is located on Chromosome 19, within the RYR1 (ryanodine receptor 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; not provided
CTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACAC
CTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACACGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACAC
Task1_train_27130
The gene RYR1 (ryanodine receptor 1), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; RYR1-related disorder
GAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACACAGCGAGACCCT
GAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCAACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACACAGCGAGACCCT
Task1_train_27131
A variant on Chromosome 19 in gene RYR1 (ryanodine receptor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; RYR1-related disorder
CAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACACAGCGAGACCCTTTCTCTA
CAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCAACTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACACAGCGAGACCCTTTCTCTA
Task1_train_27132
A genetic alteration is present in RYR1 (ryanodine receptor 1) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; not provided
TCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACACAGCGAGACCCTTTCTCTATTAAAAAATTAGCCAGGGGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATATATATGTCTCAAGGGTTTGAAGATGTGACCAATGAACTCTTTCTATCCCCAATCCTAGGAGTCTTATGTCTGGAAGATGTACCAAGAGAGATGTTGGGATTTCTTCCCAGCTGGTGATTGTTTCCGTAAGCAGTATGAGGACCAGCTTAGCTGACACACCCCCAGCTGGCCCTCCACCCCCACCTCAAGTGCCTTATTCTCACAGCAAGCCCCTTAGTCCCCAAGCCCCTCCCCCTAAGGCAGCTGGGGGAGAGGTGACCTAGTACTGGAAAATAAATCTGTGCTACGCCCCCCAGCATCACTGTGTTGGCCTGCTGAAATTTTGGAGGAGTGGACATCCAGGAATTGTTTCCCCCAAGAAAAACAAGATGACAGCAGAGGCTAAAGTCATGTTTATTGGGAGATGAGGACATGCCATGACCACTAGTGTGTCTATGGGGGAGGGGGTGCAAGGACTAGTTCCTGACACCCCCCTAGGGACTCATTCCTGGATGTAGAGGTTGCTGGGAGCAGTAGGATCATCCACTGGGCGTGTCTCCACCACTACAGGCCTGTGGAAGGAAGAGATAAGTCAGTTCATTTATTCATTCATATGTTCATTGATTCATTAATTCACAAAGTAGTTAATAGAGACTGTGCCAGCCCCATGCTGAACTATAGCAGTGAATGGGCAGACACGGTCCCTGCCCTTAGGAAGCTTGCATTCTAGAGAAGGAGATCAACATGAATCAGTGAATTACATGAGTGCAAAAAAGCA
TCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAAAAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACACAGCGAGACCCTTTCTCTATTAAAAAATTAGCCAGGGGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATATATATGTCTCAAGGGTTTGAAGATGTGACCAATGAACTCTTTCTATCCCCAATCCTAGGAGTCTTATGTCTGGAAGATGTACCAAGAGAGATGTTGGGATTTCTTCCCAGCTGGTGATTGTTTCCGTAAGCAGTATGAGGACCAGCTTAGCTGACACACCCCCAGCTGGCCCTCCACCCCCACCTCAAGTGCCTTATTCTCACAGCAAGCCCCTTAGTCCCCAAGCCCCTCCCCCTAAGGCAGCTGGGGGAGAGGTGACCTAGTACTGGAAAATAAATCTGTGCTACGCCCCCCAGCATCACTGTGTTGGCCTGCTGAAATTTTGGAGGAGTGGACATCCAGGAATTGTTTCCCCCAAGAAAAACAAGATGACAGCAGAGGCTAAAGTCATGTTTATTGGGAGATGAGGACATGCCATGACCACTAGTGTGTCTATGGGGGAGGGGGTGCAAGGACTAGTTCCTGACACCCCCCTAGGGACTCATTCCTGGATGTAGAGGTTGCTGGGAGCAGTAGGATCATCCACTGGGCGTGTCTCCACCACTACAGGCCTGTGGAAGGAAGAGATAAGTCAGTTCATTTATTCATTCATATGTTCATTGATTCATTAATTCACAAAGTAGTTAATAGAGACTGTGCCAGCCCCATGCTGAACTATAGCAGTGAATGGGCAGACACGGTCCCTGCCCTTAGGAAGCTTGCATTCTAGAGAAGGAGATCAACATGAATCAGTGAATTACATGAGTGCAAAAAAGCA
Task1_train_27133
This variant affects gene ACTN4 (actinin alpha 4) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; Focal segmental glomerulosclerosis 1
AGAGAAAGACAGCCCCGTATAAGAACGTCAATGTGCAGAACTTCCACATCAGGTAAGCGCCAGTCCTGGTCATCCTCTCCTTTCCTCTAGGAACCTGAGATCCTTCCTCCCACCTGCCCTGTTTGCTGTGTTTTTGTCGTGGTCTGTGAGATGCCAGCCCTCAGTCAGCCCCTCCCTGGCCACGGGCCCTACAAGCCCATGGGAAGGTCACCTGGTCCTCTCTGAGGAAGAGGAGGCAGTTTCCCAGCCATCCTGGCTGAAGGCAGTAAGGTCAGCCCTCTCGCCGGCCTAATAGAACGTTCTTCGTCCCCAGGCAAGGTGACTCTCAGAAGCAACAATAAAGCTTTTCATTTTTGAGACAGGGTCTTGTGCTGTCACCCAGACTGGAGGGCAGTGGTGTGATCACTCATCCCTGCTGCCTTGGCCTAGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCATGCAGCCACACCTGGCTAATTTTTAATTTTTATTTTTAGTAGGAACAGGGTCTCCCTATGTTGCCCAGGCTGGACTTGAACTCCTGAGCTCAAGCAGTCCTCCTACCCCGGCCTCCCAAAGTGCTGGGACTACAGATGTGAGCCACTGCCTGCCTCTGGCCTCTTCCTTTATTTTGACAGCTCAGGAGTGAATTGTTTTTAGAATTGCTAGTAAATTTAGTGTTGGGGAAAAATGTACTCTGTGGCTGCTAAGATGAACAAGCCTCAGCTCCACCATGAACCTGCTTCCCTCAGGGTGAGCGGGAGATGAGACATGTCCACCATCCCCGTAGCTGAGGCGAGCATGGGCACTGCCGCATGAGGTCCAGGGGGCGGCAAGAGGCAGGCCTGCCTGGTGGTTGGGAGCACTGGCTCTGGGGGCGGTCCTGAGGTCAGATCCGGTTTGCCTTGTGGCTCCACCCTCTGAGTCTCCTGGATGGCCCGCACAGGAATGAAGAGCAGGGCCTCATGGGGTTTGCAGCGGCCTCAGGCTCTCTGGGACCCTTGCTGGGTACAGAGGGCTTTTCCCATCGTGCTCACCCTGATAGCATGTGGTCCCTCCCTTGGTCACTCTTCTCTGTGTGTCTTCTTTTTTTTCCTGCCACTAACTGACTGAATCTTTCTATAGTTTCCATTCATTTTCTTCAACTAGTAAGTATCTAGCATGCCCGCTGCATGCCGTTAGTGGAGATACAGTGGCACCCAAACAAAGTTCCCATTTGTGGGAAGTTTACACCACAGCGCGGGGACCAGCTGTTAGCACAGCGGCCAGTAATCCTGCAGCATAACTTCAGTGAGAAGTGCTGCACAAAGACAGGGAAGTCAGATGAAGAAAGTTCCCTGGGTGGCCTTTCTGAGGAGGTGACATCGAGCTTGACCTCAGAGGGAACCAACCCTTAGAGGGTCTCAGGGAGGAGAATGTGACCCATATAGCTTGTAACTGACCAACTTGTGGCCTTGGGGAAGGTCTCTTTCCTCCAGAGACCAGCATGCCAAGTGAAATCCTGGCATTTAGCCAGCCCACGGACTGGCCTTCCTGTAAGTCAGGTCCGCCAGGGTGTGGAGGCCACACAGCACAAACACCAGCATCCTGCAGTGGCCACCTCCCCCGAAGCGGCCTGTCTGGTTCAGGGCGGCCTCCCATGGAAGGTGCTAGCAGTTATAAAGCAGTTGTCAGGAGTCAGGCACTGATCCAAGCATTTACTCATTTAATCCGCACAACAGCCCTATGTAGCAGGTATGTCACTATCCCCATCATACAGATGTGGAAACCGAGATAGCCTGGCTTACCCGAGGTCACACTGTCAGTAGGCAGAAGAGTCAGGATTTGATCACAGACTGCCTGGCCCCAGAGGTCATGCTTGCAGCCTCTCTGCCACACTGTCTCCATGCAGTGCCTGGCACAGGCCAGACTGCAGTGAATGGGAATTAGTCACTGCTGTGGGTGCACAGGGCCATACGGCACTCTCATGACAGTGAGCGGGCCCTCCTATAACCTTTGCCTTTCCTTCCCCAGCTGGAAGGATGGTCTTGCCTTCAATGCCCTGATCCACCGGCACAGACCAGAGCTGATTGAGTATGACAAGCTGAGGAAGGTGAGTGTCTCCAGCTCCCCTTGATGGCCCACAGACGTGCCCTGTCTGACCCCCTAACTCCGGGTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCATGCAGGGTCCTGCTGTCATTTGCCTGTACAAAGCCTGTATGGATCCAGGCCCTGGCCACCAGAAGCTGCCAGCCTCGTGGGGGAAGGCAGGACAAAAATTGTGTCCAAAGCAAAGCACCACACCAGGCCGTGTACATGTGCTCAGGCTGAATGGGGTGGCAGGGCATGGGGTCAGATCAGTGCTGCGGAGGAGGCTAGTGTACCCCGAGCGAGCAGGAGCCAGGAAAGGTCCCGGAAGAAGAGGCAGCTTAGAGCCAGAGGAGGGCTTCCTGGGGGAGGCACCAGATGGCACCCAGCCCGTTCCAGCCACAGTGAGCAAGAGAGCTGGGCCCCGGCCAGGGAGAGTTGGAGTGCAGTGGGCTTTAGTCCTGTAAGCAGTGGGGAGCCTGTGAGGGGGCTGGGGGACACTTTAGGGTGGTTGGGACCTGGGACCTCTCGGTTTGCTCCCCTTACCCAGTCCCCAGTGCTCTCTCAGGCCTGGCCCACATCTTCCAGTCAATGTGAAAACCAGGTTTTAGGGCAAGGGGCTTAAGCTAGGGTCTGTGGGTGGCTGGAAATTGTATGAAAAGAGTACACCTGCATTTTTCTGGAGAAAAAGCCCTGGTTTGCCCCACAAAGATTTCACGAGGCACTCCTGTGAGTGGGAATTGAATTTATCCAGGCGGTGCCCTCCCGCTCACACATCACACGTGGCTGAGAACTGCCTGAAGAAACCCCCAACCCTCGCCCTCCCGGGTCTCTCCCTCTGGGCCAGCCCTGCCTCCCTCCTGCTCCTGCACCCTGCCCTGACGGAGTTCTTGTTGTCCCCACTTGCCTCCTTCTAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGGTAAGTCATCTCTTCTGTTCAGCCACCACTGTGCTTCCTGATGGCCTTTTCTGTCCAGGGCTGGCCTCGGGCAAGGGGCTGTGGGCACATCAGAGCTTTGGGTCACCTTGGGGAGCTGGCAGAGCCAGCAAGAAGGGCTGAATGATTCTGGGTGAACTGGGGACAGCCATGTCGCCCTGGGAGACAGAGCAAGGGTAGCCTGGGCTGGCCAGATGCCTTCAGGGATGAAGAAGCGTATGGGGAGGGGGAGCTGAAGGATCAACTCTCCTGAGGGTGCATCTCCTCAGGGCCCAGGAAGGGCAAGGTGGCTGAGGAGGGGTGCTTCAGGCTTCCTGCGAGCAACCCTGGCCTCTCCCTCCCTACCTGCAGCAGGCATGGAGTATGGAGCCCGACAAAGTGGAGTGTTTTGTTTTTTCCTTTTCCGGCTTTGCTCCATTTCCCAGCCATGCACTGCCCCATTTCCTAGCCATGCACTGCCCCAGCTGGGACCTGTGTCTCTGGCCTCTGGTGGCCCTTGGAGTTGACTGTCCTGCTGCTCCTTGAGGCCATTCTCAGAGAGAGGAAGTGGCCTCATTTTAATCCGCTTCCCACAGCCTTGTCCTTTCCAGACCCATGGGAGAGGGAGGGGCTGAGGGTGTGGCTGAGCCCACCCAAGTCACGCGTCACTCTGCAGGTCCCTCTCCCCCAAGGCCGTGGCCT
AGAGAAAGACAGCCCCGTATAAGAACGTCAATGTGCAGAACTTCCACATCAGGTAAGCGCCAGTCCTGGTCATCCTCTCCTTTCCTCTAGGAACCTGAGATCCTTCCTCCCACCTGCCCTGTTTGCTGTGTTTTTGTCGTGGTCTGTGAGATGCCAGCCCTCAGTCAGCCCCTCCCTGGCCACGGGCCCTACAAGCCCATGGGAAGGTCACCTGGTCCTCTCTGAGGAAGAGGAGGCAGTTTCCCAGCCATCCTGGCTGAAGGCAGTAAGGTCAGCCCTCTCGCCGGCCTAATAGAACGTTCTTCGTCCCCAGGCAAGGTGACTCTCAGAAGCAACAATAAAGCTTTTCATTTTTGAGACAGGGTCTTGTGCTGTCACCCAGACTGGAGGGCAGTGGTGTGATCACTCATCCCTGCTGCCTTGGCCTAGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCATGCAGCCACACCTGGCTAATTTTTAATTTTTATTTTTAGTAGGAACAGGGTCTCCCTATGTTGCCCAGGCTGGACTTGAACTCCTGAGCTCAAGCAGTCCTCCTACCCCGGCCTCCCAAAGTGCTGGGACTACAGATGTGAGCCACTGCCTGCCTCTGGCCTCTTCCTTTATTTTGACAGCTCAGGAGTGAATTGTTTTTAGAATTGCTAGTAAATTTAGTGTTGGGGAAAAATGTACTCTGTGGCTGCTAAGATGAACAAGCCTCAGCTCCACCATGAACCTGCTTCCCTCAGGGTGAGCGGGAGATGAGACATGTCCACCATCCCCGTAGCTGAGGCGAGCATGGGCACTGCCGCATGAGGTCCAGGGGGCGGCAAGAGGCAGGCCTGCCTGGTGGTTGGGAGCACTGGCTCTGGGGGCGGTCCTGAGGTCAGATCCGGTTTGCCTTGTGGCTCCACCCTCTGAGTCTCCTGGATGGCCCGCACAGGAATGAAGAGCAGGGCCTCATGGGGTTTGCAGCGGCCTCAGGCTCTCTGGGACCCTTGCTGGGTACAGAGGGCTTTTCCCATCGTGCTCACCCTGATAGCATGTGGTCCCTCCCTTGGTCACTCTTCTCTGTGTGTCTTCTTTTTTTTCCTGCCACTAACTGACTGAATCTTTCTATAGTTTCCATTCATTTTCTTCAACTAGTAAGTATCTAGCATGCCCGCTGCATGCCGTTAGTGGAGATACAGTGGCACCCAAACAAAGTTCCCATTTGTGGGAAGTTTACACCACAGCGCGGGGACCAGCTGTTAGCACAGCGGCCAGTAATCCTGCAGCATAACTTCAGTGAGAAGTGCTGCACAAAGACAGGGAAGTCAGATGAAGAAAGTTCCCTGGGTGGCCTTTCTGAGGAGGTGACATCGAGCTTGACCTCAGAGGGAACCAACCCTTAGAGGGTCTCAGGGAGGAGAATGTGACCCATATAGCTTGTAACTGACCAACTTGTGGCCTTGGGGAAGGTCTCTTTCCTCCAGAGACCAGCATGCCAAGTGAAATCCTGGCATTTAGCCAGCCCACGGACTGGCCTTCCTGTAAGTCAGGTCCGCCAGGGTGTGGAGGCCACACAGCACAAACACCAGCATCCTGCAGTGGCCACCTCCCCCGAAGCGGCCTGTCTGGTTCAGGGCGGCCTCCCATGGAAGGTGCTAGCAGTTATAAAGCAGTTGTCAGGAGTCAGGCACTGATCCAAGCATTTACTCATTTAATCCGCACAACAGCCCTATGTAGCAGGTATGTCACTATCCCCATCATACAGATGTGGAAACCGAGATAGCCTGGCTTACCCGAGGTCACACTGTCAGTAGGCAGAAGAGTCAGGATTTGATCACAGACTGCCTGGCCCCAGAGGTCATGCTTGCAGCCTCTCTGCCACACTGTCTCCATGCAGTGCCTGGCACAGGCCAGACTGCAGTGAATGGGAATTAGTCACTGCTGTGGGTGCACAGGGCCATACGGCACTCTCATGACAGTGAGCGGGCCCTCCTATAACCTTTGCCTTTCCTTCCCCAGCTGGAAGGATGATCTTGCCTTCAATGCCCTGATCCACCGGCACAGACCAGAGCTGATTGAGTATGACAAGCTGAGGAAGGTGAGTGTCTCCAGCTCCCCTTGATGGCCCACAGACGTGCCCTGTCTGACCCCCTAACTCCGGGTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCATGCAGGGTCCTGCTGTCATTTGCCTGTACAAAGCCTGTATGGATCCAGGCCCTGGCCACCAGAAGCTGCCAGCCTCGTGGGGGAAGGCAGGACAAAAATTGTGTCCAAAGCAAAGCACCACACCAGGCCGTGTACATGTGCTCAGGCTGAATGGGGTGGCAGGGCATGGGGTCAGATCAGTGCTGCGGAGGAGGCTAGTGTACCCCGAGCGAGCAGGAGCCAGGAAAGGTCCCGGAAGAAGAGGCAGCTTAGAGCCAGAGGAGGGCTTCCTGGGGGAGGCACCAGATGGCACCCAGCCCGTTCCAGCCACAGTGAGCAAGAGAGCTGGGCCCCGGCCAGGGAGAGTTGGAGTGCAGTGGGCTTTAGTCCTGTAAGCAGTGGGGAGCCTGTGAGGGGGCTGGGGGACACTTTAGGGTGGTTGGGACCTGGGACCTCTCGGTTTGCTCCCCTTACCCAGTCCCCAGTGCTCTCTCAGGCCTGGCCCACATCTTCCAGTCAATGTGAAAACCAGGTTTTAGGGCAAGGGGCTTAAGCTAGGGTCTGTGGGTGGCTGGAAATTGTATGAAAAGAGTACACCTGCATTTTTCTGGAGAAAAAGCCCTGGTTTGCCCCACAAAGATTTCACGAGGCACTCCTGTGAGTGGGAATTGAATTTATCCAGGCGGTGCCCTCCCGCTCACACATCACACGTGGCTGAGAACTGCCTGAAGAAACCCCCAACCCTCGCCCTCCCGGGTCTCTCCCTCTGGGCCAGCCCTGCCTCCCTCCTGCTCCTGCACCCTGCCCTGACGGAGTTCTTGTTGTCCCCACTTGCCTCCTTCTAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGGTAAGTCATCTCTTCTGTTCAGCCACCACTGTGCTTCCTGATGGCCTTTTCTGTCCAGGGCTGGCCTCGGGCAAGGGGCTGTGGGCACATCAGAGCTTTGGGTCACCTTGGGGAGCTGGCAGAGCCAGCAAGAAGGGCTGAATGATTCTGGGTGAACTGGGGACAGCCATGTCGCCCTGGGAGACAGAGCAAGGGTAGCCTGGGCTGGCCAGATGCCTTCAGGGATGAAGAAGCGTATGGGGAGGGGGAGCTGAAGGATCAACTCTCCTGAGGGTGCATCTCCTCAGGGCCCAGGAAGGGCAAGGTGGCTGAGGAGGGGTGCTTCAGGCTTCCTGCGAGCAACCCTGGCCTCTCCCTCCCTACCTGCAGCAGGCATGGAGTATGGAGCCCGACAAAGTGGAGTGTTTTGTTTTTTCCTTTTCCGGCTTTGCTCCATTTCCCAGCCATGCACTGCCCCATTTCCTAGCCATGCACTGCCCCAGCTGGGACCTGTGTCTCTGGCCTCTGGTGGCCCTTGGAGTTGACTGTCCTGCTGCTCCTTGAGGCCATTCTCAGAGAGAGGAAGTGGCCTCATTTTAATCCGCTTCCCACAGCCTTGTCCTTTCCAGACCCATGGGAGAGGGAGGGGCTGAGGGTGTGGCTGAGCCCACCCAAGTCACGCGTCACTCTGCAGGTCCCTCTCCCCCAAGGCCGTGGCCT
Task1_train_27134
This variant affects gene ACTN4 (actinin alpha 4) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; Focal segmental glomerulosclerosis 1
AGAGAAAGACAGCCCCGTATAAGAACGTCAATGTGCAGAACTTCCACATCAGGTAAGCGCCAGTCCTGGTCATCCTCTCCTTTCCTCTAGGAACCTGAGATCCTTCCTCCCACCTGCCCTGTTTGCTGTGTTTTTGTCGTGGTCTGTGAGATGCCAGCCCTCAGTCAGCCCCTCCCTGGCCACGGGCCCTACAAGCCCATGGGAAGGTCACCTGGTCCTCTCTGAGGAAGAGGAGGCAGTTTCCCAGCCATCCTGGCTGAAGGCAGTAAGGTCAGCCCTCTCGCCGGCCTAATAGAACGTTCTTCGTCCCCAGGCAAGGTGACTCTCAGAAGCAACAATAAAGCTTTTCATTTTTGAGACAGGGTCTTGTGCTGTCACCCAGACTGGAGGGCAGTGGTGTGATCACTCATCCCTGCTGCCTTGGCCTAGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCATGCAGCCACACCTGGCTAATTTTTAATTTTTATTTTTAGTAGGAACAGGGTCTCCCTATGTTGCCCAGGCTGGACTTGAACTCCTGAGCTCAAGCAGTCCTCCTACCCCGGCCTCCCAAAGTGCTGGGACTACAGATGTGAGCCACTGCCTGCCTCTGGCCTCTTCCTTTATTTTGACAGCTCAGGAGTGAATTGTTTTTAGAATTGCTAGTAAATTTAGTGTTGGGGAAAAATGTACTCTGTGGCTGCTAAGATGAACAAGCCTCAGCTCCACCATGAACCTGCTTCCCTCAGGGTGAGCGGGAGATGAGACATGTCCACCATCCCCGTAGCTGAGGCGAGCATGGGCACTGCCGCATGAGGTCCAGGGGGCGGCAAGAGGCAGGCCTGCCTGGTGGTTGGGAGCACTGGCTCTGGGGGCGGTCCTGAGGTCAGATCCGGTTTGCCTTGTGGCTCCACCCTCTGAGTCTCCTGGATGGCCCGCACAGGAATGAAGAGCAGGGCCTCATGGGGTTTGCAGCGGCCTCAGGCTCTCTGGGACCCTTGCTGGGTACAGAGGGCTTTTCCCATCGTGCTCACCCTGATAGCATGTGGTCCCTCCCTTGGTCACTCTTCTCTGTGTGTCTTCTTTTTTTTCCTGCCACTAACTGACTGAATCTTTCTATAGTTTCCATTCATTTTCTTCAACTAGTAAGTATCTAGCATGCCCGCTGCATGCCGTTAGTGGAGATACAGTGGCACCCAAACAAAGTTCCCATTTGTGGGAAGTTTACACCACAGCGCGGGGACCAGCTGTTAGCACAGCGGCCAGTAATCCTGCAGCATAACTTCAGTGAGAAGTGCTGCACAAAGACAGGGAAGTCAGATGAAGAAAGTTCCCTGGGTGGCCTTTCTGAGGAGGTGACATCGAGCTTGACCTCAGAGGGAACCAACCCTTAGAGGGTCTCAGGGAGGAGAATGTGACCCATATAGCTTGTAACTGACCAACTTGTGGCCTTGGGGAAGGTCTCTTTCCTCCAGAGACCAGCATGCCAAGTGAAATCCTGGCATTTAGCCAGCCCACGGACTGGCCTTCCTGTAAGTCAGGTCCGCCAGGGTGTGGAGGCCACACAGCACAAACACCAGCATCCTGCAGTGGCCACCTCCCCCGAAGCGGCCTGTCTGGTTCAGGGCGGCCTCCCATGGAAGGTGCTAGCAGTTATAAAGCAGTTGTCAGGAGTCAGGCACTGATCCAAGCATTTACTCATTTAATCCGCACAACAGCCCTATGTAGCAGGTATGTCACTATCCCCATCATACAGATGTGGAAACCGAGATAGCCTGGCTTACCCGAGGTCACACTGTCAGTAGGCAGAAGAGTCAGGATTTGATCACAGACTGCCTGGCCCCAGAGGTCATGCTTGCAGCCTCTCTGCCACACTGTCTCCATGCAGTGCCTGGCACAGGCCAGACTGCAGTGAATGGGAATTAGTCACTGCTGTGGGTGCACAGGGCCATACGGCACTCTCATGACAGTGAGCGGGCCCTCCTATAACCTTTGCCTTTCCTTCCCCAGCTGGAAGGATGGTCTTGCCTTCAATGCCCTGATCCACCGGCACAGACCAGAGCTGATTGAGTATGACAAGCTGAGGAAGGTGAGTGTCTCCAGCTCCCCTTGATGGCCCACAGACGTGCCCTGTCTGACCCCCTAACTCCGGGTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCATGCAGGGTCCTGCTGTCATTTGCCTGTACAAAGCCTGTATGGATCCAGGCCCTGGCCACCAGAAGCTGCCAGCCTCGTGGGGGAAGGCAGGACAAAAATTGTGTCCAAAGCAAAGCACCACACCAGGCCGTGTACATGTGCTCAGGCTGAATGGGGTGGCAGGGCATGGGGTCAGATCAGTGCTGCGGAGGAGGCTAGTGTACCCCGAGCGAGCAGGAGCCAGGAAAGGTCCCGGAAGAAGAGGCAGCTTAGAGCCAGAGGAGGGCTTCCTGGGGGAGGCACCAGATGGCACCCAGCCCGTTCCAGCCACAGTGAGCAAGAGAGCTGGGCCCCGGCCAGGGAGAGTTGGAGTGCAGTGGGCTTTAGTCCTGTAAGCAGTGGGGAGCCTGTGAGGGGGCTGGGGGACACTTTAGGGTGGTTGGGACCTGGGACCTCTCGGTTTGCTCCCCTTACCCAGTCCCCAGTGCTCTCTCAGGCCTGGCCCACATCTTCCAGTCAATGTGAAAACCAGGTTTTAGGGCAAGGGGCTTAAGCTAGGGTCTGTGGGTGGCTGGAAATTGTATGAAAAGAGTACACCTGCATTTTTCTGGAGAAAAAGCCCTGGTTTGCCCCACAAAGATTTCACGAGGCACTCCTGTGAGTGGGAATTGAATTTATCCAGGCGGTGCCCTCCCGCTCACACATCACACGTGGCTGAGAACTGCCTGAAGAAACCCCCAACCCTCGCCCTCCCGGGTCTCTCCCTCTGGGCCAGCCCTGCCTCCCTCCTGCTCCTGCACCCTGCCCTGACGGAGTTCTTGTTGTCCCCACTTGCCTCCTTCTAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGGTAAGTCATCTCTTCTGTTCAGCCACCACTGTGCTTCCTGATGGCCTTTTCTGTCCAGGGCTGGCCTCGGGCAAGGGGCTGTGGGCACATCAGAGCTTTGGGTCACCTTGGGGAGCTGGCAGAGCCAGCAAGAAGGGCTGAATGATTCTGGGTGAACTGGGGACAGCCATGTCGCCCTGGGAGACAGAGCAAGGGTAGCCTGGGCTGGCCAGATGCCTTCAGGGATGAAGAAGCGTATGGGGAGGGGGAGCTGAAGGATCAACTCTCCTGAGGGTGCATCTCCTCAGGGCCCAGGAAGGGCAAGGTGGCTGAGGAGGGGTGCTTCAGGCTTCCTGCGAGCAACCCTGGCCTCTCCCTCCCTACCTGCAGCAGGCATGGAGTATGGAGCCCGACAAAGTGGAGTGTTTTGTTTTTTCCTTTTCCGGCTTTGCTCCATTTCCCAGCCATGCACTGCCCCATTTCCTAGCCATGCACTGCCCCAGCTGGGACCTGTGTCTCTGGCCTCTGGTGGCCCTTGGAGTTGACTGTCCTGCTGCTCCTTGAGGCCATTCTCAGAGAGAGGAAGTGGCCTCATTTTAATCCGCTTCCCACAGCCTTGTCCTTTCCAGACCCATGGGAGAGGGAGGGGCTGAGGGTGTGGCTGAGCCCACCCAAGTCACGCGTCACTCTGCAGGTCCCTCTCCCCCAAGGCCGTGGCCT
AGAGAAAGACAGCCCCGTATAAGAACGTCAATGTGCAGAACTTCCACATCAGGTAAGCGCCAGTCCTGGTCATCCTCTCCTTTCCTCTAGGAACCTGAGATCCTTCCTCCCACCTGCCCTGTTTGCTGTGTTTTTGTCGTGGTCTGTGAGATGCCAGCCCTCAGTCAGCCCCTCCCTGGCCACGGGCCCTACAAGCCCATGGGAAGGTCACCTGGTCCTCTCTGAGGAAGAGGAGGCAGTTTCCCAGCCATCCTGGCTGAAGGCAGTAAGGTCAGCCCTCTCGCCGGCCTAATAGAACGTTCTTCGTCCCCAGGCAAGGTGACTCTCAGAAGCAACAATAAAGCTTTTCATTTTTGAGACAGGGTCTTGTGCTGTCACCCAGACTGGAGGGCAGTGGTGTGATCACTCATCCCTGCTGCCTTGGCCTAGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCATGCAGCCACACCTGGCTAATTTTTAATTTTTATTTTTAGTAGGAACAGGGTCTCCCTATGTTGCCCAGGCTGGACTTGAACTCCTGAGCTCAAGCAGTCCTCCTACCCCGGCCTCCCAAAGTGCTGGGACTACAGATGTGAGCCACTGCCTGCCTCTGGCCTCTTCCTTTATTTTGACAGCTCAGGAGTGAATTGTTTTTAGAATTGCTAGTAAATTTAGTGTTGGGGAAAAATGTACTCTGTGGCTGCTAAGATGAACAAGCCTCAGCTCCACCATGAACCTGCTTCCCTCAGGGTGAGCGGGAGATGAGACATGTCCACCATCCCCGTAGCTGAGGCGAGCATGGGCACTGCCGCATGAGGTCCAGGGGGCGGCAAGAGGCAGGCCTGCCTGGTGGTTGGGAGCACTGGCTCTGGGGGCGGTCCTGAGGTCAGATCCGGTTTGCCTTGTGGCTCCACCCTCTGAGTCTCCTGGATGGCCCGCACAGGAATGAAGAGCAGGGCCTCATGGGGTTTGCAGCGGCCTCAGGCTCTCTGGGACCCTTGCTGGGTACAGAGGGCTTTTCCCATCGTGCTCACCCTGATAGCATGTGGTCCCTCCCTTGGTCACTCTTCTCTGTGTGTCTTCTTTTTTTTCCTGCCACTAACTGACTGAATCTTTCTATAGTTTCCATTCATTTTCTTCAACTAGTAAGTATCTAGCATGCCCGCTGCATGCCGTTAGTGGAGATACAGTGGCACCCAAACAAAGTTCCCATTTGTGGGAAGTTTACACCACAGCGCGGGGACCAGCTGTTAGCACAGCGGCCAGTAATCCTGCAGCATAACTTCAGTGAGAAGTGCTGCACAAAGACAGGGAAGTCAGATGAAGAAAGTTCCCTGGGTGGCCTTTCTGAGGAGGTGACATCGAGCTTGACCTCAGAGGGAACCAACCCTTAGAGGGTCTCAGGGAGGAGAATGTGACCCATATAGCTTGTAACTGACCAACTTGTGGCCTTGGGGAAGGTCTCTTTCCTCCAGAGACCAGCATGCCAAGTGAAATCCTGGCATTTAGCCAGCCCACGGACTGGCCTTCCTGTAAGTCAGGTCCGCCAGGGTGTGGAGGCCACACAGCACAAACACCAGCATCCTGCAGTGGCCACCTCCCCCGAAGCGGCCTGTCTGGTTCAGGGCGGCCTCCCATGGAAGGTGCTAGCAGTTATAAAGCAGTTGTCAGGAGTCAGGCACTGATCCAAGCATTTACTCATTTAATCCGCACAACAGCCCTATGTAGCAGGTATGTCACTATCCCCATCATACAGATGTGGAAACCGAGATAGCCTGGCTTACCCGAGGTCACACTGTCAGTAGGCAGAAGAGTCAGGATTTGATCACAGACTGCCTGGCCCCAGAGGTCATGCTTGCAGCCTCTCTGCCACACTGTCTCCATGCAGTGCCTGGCACAGGCCAGACTGCAGTGAATGGGAATTAGTCACTGCTGTGGGTGCACAGGGCCATACGGCACTCTCATGACAGTGAGCGGGCCCTCCTATAACCTTTGCCTTTCCTTCCCCAGCTGGAAGGATGTTCTTGCCTTCAATGCCCTGATCCACCGGCACAGACCAGAGCTGATTGAGTATGACAAGCTGAGGAAGGTGAGTGTCTCCAGCTCCCCTTGATGGCCCACAGACGTGCCCTGTCTGACCCCCTAACTCCGGGTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCATGCAGGGTCCTGCTGTCATTTGCCTGTACAAAGCCTGTATGGATCCAGGCCCTGGCCACCAGAAGCTGCCAGCCTCGTGGGGGAAGGCAGGACAAAAATTGTGTCCAAAGCAAAGCACCACACCAGGCCGTGTACATGTGCTCAGGCTGAATGGGGTGGCAGGGCATGGGGTCAGATCAGTGCTGCGGAGGAGGCTAGTGTACCCCGAGCGAGCAGGAGCCAGGAAAGGTCCCGGAAGAAGAGGCAGCTTAGAGCCAGAGGAGGGCTTCCTGGGGGAGGCACCAGATGGCACCCAGCCCGTTCCAGCCACAGTGAGCAAGAGAGCTGGGCCCCGGCCAGGGAGAGTTGGAGTGCAGTGGGCTTTAGTCCTGTAAGCAGTGGGGAGCCTGTGAGGGGGCTGGGGGACACTTTAGGGTGGTTGGGACCTGGGACCTCTCGGTTTGCTCCCCTTACCCAGTCCCCAGTGCTCTCTCAGGCCTGGCCCACATCTTCCAGTCAATGTGAAAACCAGGTTTTAGGGCAAGGGGCTTAAGCTAGGGTCTGTGGGTGGCTGGAAATTGTATGAAAAGAGTACACCTGCATTTTTCTGGAGAAAAAGCCCTGGTTTGCCCCACAAAGATTTCACGAGGCACTCCTGTGAGTGGGAATTGAATTTATCCAGGCGGTGCCCTCCCGCTCACACATCACACGTGGCTGAGAACTGCCTGAAGAAACCCCCAACCCTCGCCCTCCCGGGTCTCTCCCTCTGGGCCAGCCCTGCCTCCCTCCTGCTCCTGCACCCTGCCCTGACGGAGTTCTTGTTGTCCCCACTTGCCTCCTTCTAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGGTAAGTCATCTCTTCTGTTCAGCCACCACTGTGCTTCCTGATGGCCTTTTCTGTCCAGGGCTGGCCTCGGGCAAGGGGCTGTGGGCACATCAGAGCTTTGGGTCACCTTGGGGAGCTGGCAGAGCCAGCAAGAAGGGCTGAATGATTCTGGGTGAACTGGGGACAGCCATGTCGCCCTGGGAGACAGAGCAAGGGTAGCCTGGGCTGGCCAGATGCCTTCAGGGATGAAGAAGCGTATGGGGAGGGGGAGCTGAAGGATCAACTCTCCTGAGGGTGCATCTCCTCAGGGCCCAGGAAGGGCAAGGTGGCTGAGGAGGGGTGCTTCAGGCTTCCTGCGAGCAACCCTGGCCTCTCCCTCCCTACCTGCAGCAGGCATGGAGTATGGAGCCCGACAAAGTGGAGTGTTTTGTTTTTTCCTTTTCCGGCTTTGCTCCATTTCCCAGCCATGCACTGCCCCATTTCCTAGCCATGCACTGCCCCAGCTGGGACCTGTGTCTCTGGCCTCTGGTGGCCCTTGGAGTTGACTGTCCTGCTGCTCCTTGAGGCCATTCTCAGAGAGAGGAAGTGGCCTCATTTTAATCCGCTTCCCACAGCCTTGTCCTTTCCAGACCCATGGGAGAGGGAGGGGCTGAGGGTGTGGCTGAGCCCACCCAAGTCACGCGTCACTCTGCAGGTCCCTCTCCCCCAAGGCCGTGGCCT
Task1_train_27135
The gene ACTN4 (actinin alpha 4) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Focal segmental glomerulosclerosis 1
TGTCTGACCCCCTAACTCCGGGTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCATGCAGGGTCCTGCTGTCATTTGCCTGTACAAAGCCTGTATGGATCCAGGCCCTGGCCACCAGAAGCTGCCAGCCTCGTGGGGGAAGGCAGGACAAAAATTGTGTCCAAAGCAAAGCACCACACCAGGCCGTGTACATGTGCTCAGGCTGAATGGGGTGGCAGGGCATGGGGTCAGATCAGTGCTGCGGAGGAGGCTAGTGTACCCCGAGCGAGCAGGAGCCAGGAAAGGTCCCGGAAGAAGAGGCAGCTTAGAGCCAGAGGAGGGCTTCCTGGGGGAGGCACCAGATGGCACCCAGCCCGTTCCAGCCACAGTGAGCAAGAGAGCTGGGCCCCGGCCAGGGAGAGTTGGAGTGCAGTGGGCTTTAGTCCTGTAAGCAGTGGGGAGCCTGTGAGGGGGCTGGGGGACACTTTAGGGTGGTTGGGACCTGGGACCTCTCGGTTTGCTCCCCTTACCCAGTCCCCAGTGCTCTCTCAGGCCTGGCCCACATCTTCCAGTCAATGTGAAAACCAGGTTTTAGGGCAAGGGGCTTAAGCTAGGGTCTGTGGGTGGCTGGAAATTGTATGAAAAGAGTACACCTGCATTTTTCTGGAGAAAAAGCCCTGGTTTGCCCCACAAAGATTTCACGAGGCACTCCTGTGAGTGGGAATTGAATTTATCCAGGCGGTGCCCTCCCGCTCACACATCACACGTGGCTGAGAACTGCCTGAAGAAACCCCCAACCCTCGCCCTCCCGGGTCTCTCCCTCTGGGCCAGCCCTGCCTCCCTCCTGCTCCTGCACCCTGCCCTGACGGAGTTCTTGTTGTCCCCACTTGCCTCCTTCTAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGGTAAGTCATCTCTTCTGTTCAGCCACCACTGTGCTTCCTGATGGCCTTTTCTGTCCAGGGCTGGCCTCGGGCAAGGGGCTGTGGGCACATCAGAGCTTTGGGTCACCTTGGGGAGCTGGCAGAGCCAGCAAGAAGGGCTGAATGATTCTGGGTGAACTGGGGACAGCCATGTCGCCCTGGGAGACAGAGCAAGGGTAGCCTGGGCTGGCCAGATGCCTTCAGGGATGAAGAAGCGTATGGGGAGGGGGAGCTGAAGGATCAACTCTCCTGAGGGTGCATCTCCTCAGGGCCCAGGAAGGGCAAGGTGGCTGAGGAGGGGTGCTTCAGGCTTCCTGCGAGCAACCCTGGCCTCTCCCTCCCTACCTGCAGCAGGCATGGAGTATGGAGCCCGACAAAGTGGAGTGTTTTGTTTTTTCCTTTTCCGGCTTTGCTCCATTTCCCAGCCATGCACTGCCCCATTTCCTAGCCATGCACTGCCCCAGCTGGGACCTGTGTCTCTGGCCTCTGGTGGCCCTTGGAGTTGACTGTCCTGCTGCTCCTTGAGGCCATTCTCAGAGAGAGGAAGTGGCCTCATTTTAATCCGCTTCCCACAGCCTTGTCCTTTCCAGACCCATGGGAGAGGGAGGGGCTGAGGGTGTGGCTGAGCCCACCCAAGTCACGCGTCACTCTGCAGGTCCCTCTCCCCCAAGGCCGTGGCCTTGGGAGCCCGTGGATCCCAGTGAGTGACGCCTCCACCCCCCGCCCTACTCGGGCAGTTTAACCCTTGTTGTTCACTTGCAGACATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTCAGGAGCGCAGAAGGTACCGAGCAGGGCCAGGCAGGCCCTCCTCGCCGCCACCGCGCAATGCCGCCGCTGCCTCTCGCCTCCCGTGCTCACCTCATTTCTCTTGCAGACGGCAGTGGCCTCTCTCCAACTGGAAGCCACCCCCAGCTCCCTGGCGTTGCTGCCCCCTCAGCCTTAGCTCACACACCTATTGGGTACCTCATCTGTGCCAGGCTTTTCCAGGCATTGAGGATGCCCTGGTGACTGAGTCAGACAAGGTCCCTGTTCTCAGGGCACTTCCATGCTAGTGGGAGAAACATACAGCAGGCCTGTCACAGGAGTGGAATAGAGAAAATGGGGCCAGATGGGGGACAGAGATGGCTGGGGTGACCTTCAGCTGGTGCTGTCAATGTGGAGGGGTGAAGTGAGCAGGTACTTGCAGCAGGAGCTGCTAGATGCAGGCTGGGGCACAGGTGTTCCAGGCAGAGGGTGAAGCACTACGAAGGCCCTGAGACAGGAAGAAGCTTGGCGTATTCAGGGACCAGCTAGAGAGGAGTGAGTGACACGCAGTGATGGGTCAGGCCCAACAAGACCCTTGTGGTGTGGGATAAGAAATTCATGTTCCACTCTGAGGGCCATGGGAGCCCCTTAGGGTCTTACTCCGTGGTGGGAGCTGCTCACTCACATTTTCAGACAGATCATTTAGCAACTGACTCCTCCAACCCAAAACAAAGCTGCCTTTATAGGGCCCACAGCTAGTCTGTCTCCAGCCCAGGCCGGTTAGAAAAGGAATGCACCCTATTCGGACTCCACAAAACCCCGCAAGGCATGTCCACGCAGGCCTGGGGCTGGCTTCCAGTCCAGAGCAAGTGCTCTTCCTCCTGCATGAGCCTCAGGCCGGCCCGGCCGCCCTCCCTGCGTCTTTCACTCTCTCCTGCCTCTCTCTCTCTTTCTCTCTCTCTCTGTGCAGATATTGTGGGCACTCTGAGGCCAGATGAGAAGGCCATCATGACTTACGTGTCCTGCTTCTACCACGCTTTCTCGGGGGCTCAGAAGGTGAGCTGGGCCAGGCACACCTCGCTGCTGGGGCTGCAGACCTGCCTTCACCACCGCCCTTGCATCACCGCTGGCCATCTGTGGTTGGAGCCCTGGCCAGGCCGTGGGCCGCCACACCACACAGACTGACCCTGCCGGCCTCTGACTCGGAAGGTCCCCTGGGGCAGGTTTCCCGCCTGGCCGGTGCTGGGCCTGTGCTGAGGAGTCACAGACCTCTGTTTGAACACAGCCCACCCTGGGAGGTGGGTGGTGGCATCCTAGGCTCTCAGGCGGGGAAACTGAAGCCCTGCATTACAGTCAATGGCAGAGCTGGGATTTGACTGCCCGGCGTTCCCACTCGCCCTGTCCATCATCTGCACCAGGGCTGCCTGCCTGCCCCTGCCAAGCCCTTCGTGGGGAGCACTGGGCTTTACCCGTTTTGCAGCTCCTTCCTGCCAGGAAAGGCTCAGCATGTGCAGCCCAACCTGCACTCACGGTCCCAGCCCTCCAGAGGCCAGGCAGAGCCCACAGAGCTTGCGTGGCAGTGGCCGCCCTCCTGGGCCCAGCTGACCTCATGCTGCCTCACAGCTCCTGCCGGGCCCTCAGCGTTCACGCAGAGGCCCAAGCACTGCTCCCCCCGCTTGCCTTGTGGTCTCTGAAGTATCTCAGGCAGCATTCCCGATGCCTGCTTTGAAGTGTCAGCAGTTGGCACAGGTTCAGAGGAGGAGGCAGAATCGATTCTTGTTTACTGAACATGTACTACACGCTAGGCACCCTCCAAGGCCTTCACATGCACAGGCTTCCAGAGGGTCCCTGTGCACACCCCCAGGAGGGCTAGGCGCAGTTAGCCCCATTTGAGAGAGGAGGAATTGAAGTTTAGGGAAACAGCTATTCCTAAAACTAGAAGGGGGGGGCCGTACCTTCTGTGGACCCCTGCTTTGAGCCTCCCAACTAGCAGGTGCATTACCTACCGTCAGTCTGGCCTGGCCCCAC
TGTCTGACCCCCTAACTCCGGGTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCATGCAGGGTCCTGCTGTCATTTGCCTGTACAAAGCCTGTATGGATCCAGGCCCTGGCCACCAGAAGCTGCCAGCCTCGTGGGGGAAGGCAGGACAAAAATTGTGTCCAAAGCAAAGCACCACACCAGGCCGTGTACATGTGCTCAGGCTGAATGGGGTGGCAGGGCATGGGGTCAGATCAGTGCTGCGGAGGAGGCTAGTGTACCCCGAGCGAGCAGGAGCCAGGAAAGGTCCCGGAAGAAGAGGCAGCTTAGAGCCAGAGGAGGGCTTCCTGGGGGAGGCACCAGATGGCACCCAGCCCGTTCCAGCCACAGTGAGCAAGAGAGCTGGGCCCCGGCCAGGGAGAGTTGGAGTGCAGTGGGCTTTAGTCCTGTAAGCAGTGGGGAGCCTGTGAGGGGGCTGGGGGACACTTTAGGGTGGTTGGGACCTGGGACCTCTCGGTTTGCTCCCCTTACCCAGTCCCCAGTGCTCTCTCAGGCCTGGCCCACATCTTCCAGTCAATGTGAAAACCAGGTTTTAGGGCAAGGGGCTTAAGCTAGGGTCTGTGGGTGGCTGGAAATTGTATGAAAAGAGTACACCTGCATTTTTCTGGAGAAAAAGCCCTGGTTTGCCCCACAAAGATTTCACGAGGCACTCCTGTGAGTGGGAATTGAATTTATCCAGGCGGTGCCCTCCCGCTCACACATCACACGTGGCTGAGAACTGCCTGAAGAAACCCCCAACCCTCGCCCTCCCGGGTCTCTCCCTCTGGGCCAGCCCTGCCTCCCTCCTGCTCCTGCACCCTGCCCTGACGGAGTTCTTGTTGTCCCCACTTGCCTCCTTCTAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGGTAAGTCATCTCTTCTGTTCAGCCACCACTGTGCTTCCTGATGGCCTTTTCTGTCCAGGGCTGGCCTCGGGCAAGGGGCTGTGGGCACATCAGAGCTTTGGGTCACCTTGGGGAGCTGGCAGAGCCAGCAAGAAGGGCTGAATGATTCTGGGTGAACTGGGGACAGCCATGTCGCCCTGGGAGACAGAGCAAGGGTAGCCTGGGCTGGCCAGATGCCTTCAGGGATGAAGAAGCGTATGGGGAGGGGGAGCTGAAGGATCAACTCTCCTGAGGGTGCATCTCCTCAGGGCCCAGGAAGGGCAAGGTGGCTGAGGAGGGGTGCTTCAGGCTTCCTGCGAGCAACCCTGGCCTCTCCCTCCCTACCTGCAGCAGGCATGGAGTATGGAGCCCGACAAAGTGGAGTGTTTTGTTTTTTCCTTTTCCGGCTTTGCTCCATTTCCCAGCCATGCACTGCCCCATTTCCTAGCCATGCACTGCCCCAGCTGGGACCTGTGTCTCTGGCCTCTGGTGGCCCTTGGAGTTGACTGTCCTGCTGCTCCTTGAGGCCATTCTCAGAGAGAGGAAGTGGCCTCATTTTAATCCGCTTCCCACAGCCTTGTCCTTTCCAGACCCATGGGAGAGGGAGGGGCTGAGGGTGTGGCTGAGCCCACCCAAGTCACGCGTCACTCTGCAGGTCCCTCTCCCCCAAGGCCGTGGCCTTGGGAGCCCGTGGATCCCAGTGAGTGACGCCTCCACCCCCCGCCCTACTCGGGCAGTTTAACCCTTGTTGTTCACTTGCAGACATCGTGAACACGGCCCGGCCCGACGAGGAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTCAGGAGCGCAGAAGGTACCGAGCAGGGCCAGGCAGGCCCTCCTCGCCGCCACCGCGCAATGCCGCCGCTGCCTCTCGCCTCCCGTGCTCACCTCATTTCTCTTGCAGACGGCAGTGGCCTCTCTCCAACTGGAAGCCACCCCCAGCTCCCTGGCGTTGCTGCCCCCTCAGCCTTAGCTCACACACCTATTGGGTACCTCATCTGTGCCAGGCTTTTCCAGGCATTGAGGATGCCCTGGTGACTGAGTCAGACAAGGTCCCTGTTCTCAGGGCACTTCCATGCTAGTGGGAGAAACATACAGCAGGCCTGTCACAGGAGTGGAATAGAGAAAATGGGGCCAGATGGGGGACAGAGATGGCTGGGGTGACCTTCAGCTGGTGCTGTCAATGTGGAGGGGTGAAGTGAGCAGGTACTTGCAGCAGGAGCTGCTAGATGCAGGCTGGGGCACAGGTGTTCCAGGCAGAGGGTGAAGCACTACGAAGGCCCTGAGACAGGAAGAAGCTTGGCGTATTCAGGGACCAGCTAGAGAGGAGTGAGTGACACGCAGTGATGGGTCAGGCCCAACAAGACCCTTGTGGTGTGGGATAAGAAATTCATGTTCCACTCTGAGGGCCATGGGAGCCCCTTAGGGTCTTACTCCGTGGTGGGAGCTGCTCACTCACATTTTCAGACAGATCATTTAGCAACTGACTCCTCCAACCCAAAACAAAGCTGCCTTTATAGGGCCCACAGCTAGTCTGTCTCCAGCCCAGGCCGGTTAGAAAAGGAATGCACCCTATTCGGACTCCACAAAACCCCGCAAGGCATGTCCACGCAGGCCTGGGGCTGGCTTCCAGTCCAGAGCAAGTGCTCTTCCTCCTGCATGAGCCTCAGGCCGGCCCGGCCGCCCTCCCTGCGTCTTTCACTCTCTCCTGCCTCTCTCTCTCTTTCTCTCTCTCTCTGTGCAGATATTGTGGGCACTCTGAGGCCAGATGAGAAGGCCATCATGACTTACGTGTCCTGCTTCTACCACGCTTTCTCGGGGGCTCAGAAGGTGAGCTGGGCCAGGCACACCTCGCTGCTGGGGCTGCAGACCTGCCTTCACCACCGCCCTTGCATCACCGCTGGCCATCTGTGGTTGGAGCCCTGGCCAGGCCGTGGGCCGCCACACCACACAGACTGACCCTGCCGGCCTCTGACTCGGAAGGTCCCCTGGGGCAGGTTTCCCGCCTGGCCGGTGCTGGGCCTGTGCTGAGGAGTCACAGACCTCTGTTTGAACACAGCCCACCCTGGGAGGTGGGTGGTGGCATCCTAGGCTCTCAGGCGGGGAAACTGAAGCCCTGCATTACAGTCAATGGCAGAGCTGGGATTTGACTGCCCGGCGTTCCCACTCGCCCTGTCCATCATCTGCACCAGGGCTGCCTGCCTGCCCCTGCCAAGCCCTTCGTGGGGAGCACTGGGCTTTACCCGTTTTGCAGCTCCTTCCTGCCAGGAAAGGCTCAGCATGTGCAGCCCAACCTGCACTCACGGTCCCAGCCCTCCAGAGGCCAGGCAGAGCCCACAGAGCTTGCGTGGCAGTGGCCGCCCTCCTGGGCCCAGCTGACCTCATGCTGCCTCACAGCTCCTGCCGGGCCCTCAGCGTTCACGCAGAGGCCCAAGCACTGCTCCCCCCGCTTGCCTTGTGGTCTCTGAAGTATCTCAGGCAGCATTCCCGATGCCTGCTTTGAAGTGTCAGCAGTTGGCACAGGTTCAGAGGAGGAGGCAGAATCGATTCTTGTTTACTGAACATGTACTACACGCTAGGCACCCTCCAAGGCCTTCACATGCACAGGCTTCCAGAGGGTCCCTGTGCACACCCCCAGGAGGGCTAGGCGCAGTTAGCCCCATTTGAGAGAGGAGGAATTGAAGTTTAGGGAAACAGCTATTCCTAAAACTAGAAGGGGGGGGCCGTACCTTCTGTGGACCCCTGCTTTGAGCCTCCCAACTAGCAGGTGCATTACCTACCGTCAGTCTGGCCTGGCCCCAC
Task1_train_27136
This mutation occurs in ACTN4 (actinin alpha 4) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; not provided
AACTCCGGGTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCATGCAGGGTCCTGCTGTCATTTGCCTGTACAAAGCCTGTATGGATCCAGGCCCTGGCCACCAGAAGCTGCCAGCCTCGTGGGGGAAGGCAGGACAAAAATTGTGTCCAAAGCAAAGCACCACACCAGGCCGTGTACATGTGCTCAGGCTGAATGGGGTGGCAGGGCATGGGGTCAGATCAGTGCTGCGGAGGAGGCTAGTGTACCCCGAGCGAGCAGGAGCCAGGAAAGGTCCCGGAAGAAGAGGCAGCTTAGAGCCAGAGGAGGGCTTCCTGGGGGAGGCACCAGATGGCACCCAGCCCGTTCCAGCCACAGTGAGCAAGAGAGCTGGGCCCCGGCCAGGGAGAGTTGGAGTGCAGTGGGCTTTAGTCCTGTAAGCAGTGGGGAGCCTGTGAGGGGGCTGGGGGACACTTTAGGGTGGTTGGGACCTGGGACCTCTCGGTTTGCTCCCCTTACCCAGTCCCCAGTGCTCTCTCAGGCCTGGCCCACATCTTCCAGTCAATGTGAAAACCAGGTTTTAGGGCAAGGGGCTTAAGCTAGGGTCTGTGGGTGGCTGGAAATTGTATGAAAAGAGTACACCTGCATTTTTCTGGAGAAAAAGCCCTGGTTTGCCCCACAAAGATTTCACGAGGCACTCCTGTGAGTGGGAATTGAATTTATCCAGGCGGTGCCCTCCCGCTCACACATCACACGTGGCTGAGAACTGCCTGAAGAAACCCCCAACCCTCGCCCTCCCGGGTCTCTCCCTCTGGGCCAGCCCTGCCTCCCTCCTGCTCCTGCACCCTGCCCTGACGGAGTTCTTGTTGTCCCCACTTGCCTCCTTCTAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGGTAAGTCATCTCTTCTGTTCAGCCACCACTGTGCTTCCTGATGGCCTTTTCTGTCCAGGGCTGGCCTCGGGCAAGGGGCTGTGGGCACATCAGAGCTTTGGGTCACCTTGGGGAGCTGGCAGAGCCAGCAAGAAGGGCTGAATGATTCTGGGTGAACTGGGGACAGCCATGTCGCCCTGGGAGACAGAGCAAGGGTAGCCTGGGCTGGCCAGATGCCTTCAGGGATGAAGAAGCGTATGGGGAGGGGGAGCTGAAGGATCAACTCTCCTGAGGGTGCATCTCCTCAGGGCCCAGGAAGGGCAAGGTGGCTGAGGAGGGGTGCTTCAGGCTTCCTGCGAGCAACCCTGGCCTCTCCCTCCCTACCTGCAGCAGGCATGGAGTATGGAGCCCGACAAAGTGGAGTGTTTTGTTTTTTCCTTTTCCGGCTTTGCTCCATTTCCCAGCCATGCACTGCCCCATTTCCTAGCCATGCACTGCCCCAGCTGGGACCTGTGTCTCTGGCCTCTGGTGGCCCTTGGAGTTGACTGTCCTGCTGCTCCTTGAGGCCATTCTCAGAGAGAGGAAGTGGCCTCATTTTAATCCGCTTCCCACAGCCTTGTCCTTTCCAGACCCATGGGAGAGGGAGGGGCTGAGGGTGTGGCTGAGCCCACCCAAGTCACGCGTCACTCTGCAGGTCCCTCTCCCCCAAGGCCGTGGCCTTGGGAGCCCGTGGATCCCAGTGAGTGACGCCTCCACCCCCCGCCCTACTCGGGCAGTTTAACCCTTGTTGTTCACTTGCAGACATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTCAGGAGCGCAGAAGGTACCGAGCAGGGCCAGGCAGGCCCTCCTCGCCGCCACCGCGCAATGCCGCCGCTGCCTCTCGCCTCCCGTGCTCACCTCATTTCTCTTGCAGACGGCAGTGGCCTCTCTCCAACTGGAAGCCACCCCCAGCTCCCTGGCGTTGCTGCCCCCTCAGCCTTAGCTCACACACCTATTGGGTACCTCATCTGTGCCAGGCTTTTCCAGGCATTGAGGATGCCCTGGTGACTGAGTCAGACAAGGTCCCTGTTCTCAGGGCACTTCCATGCTAGTGGGAGAAACATACAGCAGGCCTGTCACAGGAGTGGAATAGAGAAAATGGGGCCAGATGGGGGACAGAGATGGCTGGGGTGACCTTCAGCTGGTGCTGTCAATGTGGAGGGGTGAAGTGAGCAGGTACTTGCAGCAGGAGCTGCTAGATGCAGGCTGGGGCACAGGTGTTCCAGGCAGAGGGTGAAGCACTACGAAGGCCCTGAGACAGGAAGAAGCTTGGCGTATTCAGGGACCAGCTAGAGAGGAGTGAGTGACACGCAGTGATGGGTCAGGCCCAACAAGACCCTTGTGGTGTGGGATAAGAAATTCATGTTCCACTCTGAGGGCCATGGGAGCCCCTTAGGGTCTTACTCCGTGGTGGGAGCTGCTCACTCACATTTTCAGACAGATCATTTAGCAACTGACTCCTCCAACCCAAAACAAAGCTGCCTTTATAGGGCCCACAGCTAGTCTGTCTCCAGCCCAGGCCGGTTAGAAAAGGAATGCACCCTATTCGGACTCCACAAAACCCCGCAAGGCATGTCCACGCAGGCCTGGGGCTGGCTTCCAGTCCAGAGCAAGTGCTCTTCCTCCTGCATGAGCCTCAGGCCGGCCCGGCCGCCCTCCCTGCGTCTTTCACTCTCTCCTGCCTCTCTCTCTCTTTCTCTCTCTCTCTGTGCAGATATTGTGGGCACTCTGAGGCCAGATGAGAAGGCCATCATGACTTACGTGTCCTGCTTCTACCACGCTTTCTCGGGGGCTCAGAAGGTGAGCTGGGCCAGGCACACCTCGCTGCTGGGGCTGCAGACCTGCCTTCACCACCGCCCTTGCATCACCGCTGGCCATCTGTGGTTGGAGCCCTGGCCAGGCCGTGGGCCGCCACACCACACAGACTGACCCTGCCGGCCTCTGACTCGGAAGGTCCCCTGGGGCAGGTTTCCCGCCTGGCCGGTGCTGGGCCTGTGCTGAGGAGTCACAGACCTCTGTTTGAACACAGCCCACCCTGGGAGGTGGGTGGTGGCATCCTAGGCTCTCAGGCGGGGAAACTGAAGCCCTGCATTACAGTCAATGGCAGAGCTGGGATTTGACTGCCCGGCGTTCCCACTCGCCCTGTCCATCATCTGCACCAGGGCTGCCTGCCTGCCCCTGCCAAGCCCTTCGTGGGGAGCACTGGGCTTTACCCGTTTTGCAGCTCCTTCCTGCCAGGAAAGGCTCAGCATGTGCAGCCCAACCTGCACTCACGGTCCCAGCCCTCCAGAGGCCAGGCAGAGCCCACAGAGCTTGCGTGGCAGTGGCCGCCCTCCTGGGCCCAGCTGACCTCATGCTGCCTCACAGCTCCTGCCGGGCCCTCAGCGTTCACGCAGAGGCCCAAGCACTGCTCCCCCCGCTTGCCTTGTGGTCTCTGAAGTATCTCAGGCAGCATTCCCGATGCCTGCTTTGAAGTGTCAGCAGTTGGCACAGGTTCAGAGGAGGAGGCAGAATCGATTCTTGTTTACTGAACATGTACTACACGCTAGGCACCCTCCAAGGCCTTCACATGCACAGGCTTCCAGAGGGTCCCTGTGCACACCCCCAGGAGGGCTAGGCGCAGTTAGCCCCATTTGAGAGAGGAGGAATTGAAGTTTAGGGAAACAGCTATTCCTAAAACTAGAAGGGGGGGGCCGTACCTTCTGTGGACCCCTGCTTTGAGCCTCCCAACTAGCAGGTGCATTACCTACCGTCAGTCTGGCCTGGCCCCACTCTGCCACCTCTT
AACTCCGGGTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCATGCAGGGTCCTGCTGTCATTTGCCTGTACAAAGCCTGTATGGATCCAGGCCCTGGCCACCAGAAGCTGCCAGCCTCGTGGGGGAAGGCAGGACAAAAATTGTGTCCAAAGCAAAGCACCACACCAGGCCGTGTACATGTGCTCAGGCTGAATGGGGTGGCAGGGCATGGGGTCAGATCAGTGCTGCGGAGGAGGCTAGTGTACCCCGAGCGAGCAGGAGCCAGGAAAGGTCCCGGAAGAAGAGGCAGCTTAGAGCCAGAGGAGGGCTTCCTGGGGGAGGCACCAGATGGCACCCAGCCCGTTCCAGCCACAGTGAGCAAGAGAGCTGGGCCCCGGCCAGGGAGAGTTGGAGTGCAGTGGGCTTTAGTCCTGTAAGCAGTGGGGAGCCTGTGAGGGGGCTGGGGGACACTTTAGGGTGGTTGGGACCTGGGACCTCTCGGTTTGCTCCCCTTACCCAGTCCCCAGTGCTCTCTCAGGCCTGGCCCACATCTTCCAGTCAATGTGAAAACCAGGTTTTAGGGCAAGGGGCTTAAGCTAGGGTCTGTGGGTGGCTGGAAATTGTATGAAAAGAGTACACCTGCATTTTTCTGGAGAAAAAGCCCTGGTTTGCCCCACAAAGATTTCACGAGGCACTCCTGTGAGTGGGAATTGAATTTATCCAGGCGGTGCCCTCCCGCTCACACATCACACGTGGCTGAGAACTGCCTGAAGAAACCCCCAACCCTCGCCCTCCCGGGTCTCTCCCTCTGGGCCAGCCCTGCCTCCCTCCTGCTCCTGCACCCTGCCCTGACGGAGTTCTTGTTGTCCCCACTTGCCTCCTTCTAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGGTAAGTCATCTCTTCTGTTCAGCCACCACTGTGCTTCCTGATGGCCTTTTCTGTCCAGGGCTGGCCTCGGGCAAGGGGCTGTGGGCACATCAGAGCTTTGGGTCACCTTGGGGAGCTGGCAGAGCCAGCAAGAAGGGCTGAATGATTCTGGGTGAACTGGGGACAGCCATGTCGCCCTGGGAGACAGAGCAAGGGTAGCCTGGGCTGGCCAGATGCCTTCAGGGATGAAGAAGCGTATGGGGAGGGGGAGCTGAAGGATCAACTCTCCTGAGGGTGCATCTCCTCAGGGCCCAGGAAGGGCAAGGTGGCTGAGGAGGGGTGCTTCAGGCTTCCTGCGAGCAACCCTGGCCTCTCCCTCCCTACCTGCAGCAGGCATGGAGTATGGAGCCCGACAAAGTGGAGTGTTTTGTTTTTTCCTTTTCCGGCTTTGCTCCATTTCCCAGCCATGCACTGCCCCATTTCCTAGCCATGCACTGCCCCAGCTGGGACCTGTGTCTCTGGCCTCTGGTGGCCCTTGGAGTTGACTGTCCTGCTGCTCCTTGAGGCCATTCTCAGAGAGAGGAAGTGGCCTCATTTTAATCCGCTTCCCACAGCCTTGTCCTTTCCAGACCCATGGGAGAGGGAGGGGCTGAGGGTGTGGCTGAGCCCACCCAAGTCACGCGTCACTCTGCAGGTCCCTCTCCCCCAAGGCCGTGGCCTTGGGAGCCCGTGGATCCCAGTGAGTGACGCCTCCACCCCCCGCCCTACTCGGGCAGTTTAACCCTTGTTGTTCACTTGCAGACATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGATCTATGTGTCCAGCTTCTACCATGCCTTTTCAGGAGCGCAGAAGGTACCGAGCAGGGCCAGGCAGGCCCTCCTCGCCGCCACCGCGCAATGCCGCCGCTGCCTCTCGCCTCCCGTGCTCACCTCATTTCTCTTGCAGACGGCAGTGGCCTCTCTCCAACTGGAAGCCACCCCCAGCTCCCTGGCGTTGCTGCCCCCTCAGCCTTAGCTCACACACCTATTGGGTACCTCATCTGTGCCAGGCTTTTCCAGGCATTGAGGATGCCCTGGTGACTGAGTCAGACAAGGTCCCTGTTCTCAGGGCACTTCCATGCTAGTGGGAGAAACATACAGCAGGCCTGTCACAGGAGTGGAATAGAGAAAATGGGGCCAGATGGGGGACAGAGATGGCTGGGGTGACCTTCAGCTGGTGCTGTCAATGTGGAGGGGTGAAGTGAGCAGGTACTTGCAGCAGGAGCTGCTAGATGCAGGCTGGGGCACAGGTGTTCCAGGCAGAGGGTGAAGCACTACGAAGGCCCTGAGACAGGAAGAAGCTTGGCGTATTCAGGGACCAGCTAGAGAGGAGTGAGTGACACGCAGTGATGGGTCAGGCCCAACAAGACCCTTGTGGTGTGGGATAAGAAATTCATGTTCCACTCTGAGGGCCATGGGAGCCCCTTAGGGTCTTACTCCGTGGTGGGAGCTGCTCACTCACATTTTCAGACAGATCATTTAGCAACTGACTCCTCCAACCCAAAACAAAGCTGCCTTTATAGGGCCCACAGCTAGTCTGTCTCCAGCCCAGGCCGGTTAGAAAAGGAATGCACCCTATTCGGACTCCACAAAACCCCGCAAGGCATGTCCACGCAGGCCTGGGGCTGGCTTCCAGTCCAGAGCAAGTGCTCTTCCTCCTGCATGAGCCTCAGGCCGGCCCGGCCGCCCTCCCTGCGTCTTTCACTCTCTCCTGCCTCTCTCTCTCTTTCTCTCTCTCTCTGTGCAGATATTGTGGGCACTCTGAGGCCAGATGAGAAGGCCATCATGACTTACGTGTCCTGCTTCTACCACGCTTTCTCGGGGGCTCAGAAGGTGAGCTGGGCCAGGCACACCTCGCTGCTGGGGCTGCAGACCTGCCTTCACCACCGCCCTTGCATCACCGCTGGCCATCTGTGGTTGGAGCCCTGGCCAGGCCGTGGGCCGCCACACCACACAGACTGACCCTGCCGGCCTCTGACTCGGAAGGTCCCCTGGGGCAGGTTTCCCGCCTGGCCGGTGCTGGGCCTGTGCTGAGGAGTCACAGACCTCTGTTTGAACACAGCCCACCCTGGGAGGTGGGTGGTGGCATCCTAGGCTCTCAGGCGGGGAAACTGAAGCCCTGCATTACAGTCAATGGCAGAGCTGGGATTTGACTGCCCGGCGTTCCCACTCGCCCTGTCCATCATCTGCACCAGGGCTGCCTGCCTGCCCCTGCCAAGCCCTTCGTGGGGAGCACTGGGCTTTACCCGTTTTGCAGCTCCTTCCTGCCAGGAAAGGCTCAGCATGTGCAGCCCAACCTGCACTCACGGTCCCAGCCCTCCAGAGGCCAGGCAGAGCCCACAGAGCTTGCGTGGCAGTGGCCGCCCTCCTGGGCCCAGCTGACCTCATGCTGCCTCACAGCTCCTGCCGGGCCCTCAGCGTTCACGCAGAGGCCCAAGCACTGCTCCCCCCGCTTGCCTTGTGGTCTCTGAAGTATCTCAGGCAGCATTCCCGATGCCTGCTTTGAAGTGTCAGCAGTTGGCACAGGTTCAGAGGAGGAGGCAGAATCGATTCTTGTTTACTGAACATGTACTACACGCTAGGCACCCTCCAAGGCCTTCACATGCACAGGCTTCCAGAGGGTCCCTGTGCACACCCCCAGGAGGGCTAGGCGCAGTTAGCCCCATTTGAGAGAGGAGGAATTGAAGTTTAGGGAAACAGCTATTCCTAAAACTAGAAGGGGGGGGCCGTACCTTCTGTGGACCCCTGCTTTGAGCCTCCCAACTAGCAGGTGCATTACCTACCGTCAGTCTGGCCTGGCCCCACTCTGCCACCTCTT
Task1_train_27137
A mutation on Chromosome 19 affecting ACTN4 (actinin alpha 4) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Focal segmental glomerulosclerosis 1
GTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCATGCAGGGTCCTGCTGTCATTTGCCTGTACAAAGCCTGTATGGATCCAGGCCCTGGCCACCAGAAGCTGCCAGCCTCGTGGGGGAAGGCAGGACAAAAATTGTGTCCAAAGCAAAGCACCACACCAGGCCGTGTACATGTGCTCAGGCTGAATGGGGTGGCAGGGCATGGGGTCAGATCAGTGCTGCGGAGGAGGCTAGTGTACCCCGAGCGAGCAGGAGCCAGGAAAGGTCCCGGAAGAAGAGGCAGCTTAGAGCCAGAGGAGGGCTTCCTGGGGGAGGCACCAGATGGCACCCAGCCCGTTCCAGCCACAGTGAGCAAGAGAGCTGGGCCCCGGCCAGGGAGAGTTGGAGTGCAGTGGGCTTTAGTCCTGTAAGCAGTGGGGAGCCTGTGAGGGGGCTGGGGGACACTTTAGGGTGGTTGGGACCTGGGACCTCTCGGTTTGCTCCCCTTACCCAGTCCCCAGTGCTCTCTCAGGCCTGGCCCACATCTTCCAGTCAATGTGAAAACCAGGTTTTAGGGCAAGGGGCTTAAGCTAGGGTCTGTGGGTGGCTGGAAATTGTATGAAAAGAGTACACCTGCATTTTTCTGGAGAAAAAGCCCTGGTTTGCCCCACAAAGATTTCACGAGGCACTCCTGTGAGTGGGAATTGAATTTATCCAGGCGGTGCCCTCCCGCTCACACATCACACGTGGCTGAGAACTGCCTGAAGAAACCCCCAACCCTCGCCCTCCCGGGTCTCTCCCTCTGGGCCAGCCCTGCCTCCCTCCTGCTCCTGCACCCTGCCCTGACGGAGTTCTTGTTGTCCCCACTTGCCTCCTTCTAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGGTAAGTCATCTCTTCTGTTCAGCCACCACTGTGCTTCCTGATGGCCTTTTCTGTCCAGGGCTGGCCTCGGGCAAGGGGCTGTGGGCACATCAGAGCTTTGGGTCACCTTGGGGAGCTGGCAGAGCCAGCAAGAAGGGCTGAATGATTCTGGGTGAACTGGGGACAGCCATGTCGCCCTGGGAGACAGAGCAAGGGTAGCCTGGGCTGGCCAGATGCCTTCAGGGATGAAGAAGCGTATGGGGAGGGGGAGCTGAAGGATCAACTCTCCTGAGGGTGCATCTCCTCAGGGCCCAGGAAGGGCAAGGTGGCTGAGGAGGGGTGCTTCAGGCTTCCTGCGAGCAACCCTGGCCTCTCCCTCCCTACCTGCAGCAGGCATGGAGTATGGAGCCCGACAAAGTGGAGTGTTTTGTTTTTTCCTTTTCCGGCTTTGCTCCATTTCCCAGCCATGCACTGCCCCATTTCCTAGCCATGCACTGCCCCAGCTGGGACCTGTGTCTCTGGCCTCTGGTGGCCCTTGGAGTTGACTGTCCTGCTGCTCCTTGAGGCCATTCTCAGAGAGAGGAAGTGGCCTCATTTTAATCCGCTTCCCACAGCCTTGTCCTTTCCAGACCCATGGGAGAGGGAGGGGCTGAGGGTGTGGCTGAGCCCACCCAAGTCACGCGTCACTCTGCAGGTCCCTCTCCCCCAAGGCCGTGGCCTTGGGAGCCCGTGGATCCCAGTGAGTGACGCCTCCACCCCCCGCCCTACTCGGGCAGTTTAACCCTTGTTGTTCACTTGCAGACATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTCAGGAGCGCAGAAGGTACCGAGCAGGGCCAGGCAGGCCCTCCTCGCCGCCACCGCGCAATGCCGCCGCTGCCTCTCGCCTCCCGTGCTCACCTCATTTCTCTTGCAGACGGCAGTGGCCTCTCTCCAACTGGAAGCCACCCCCAGCTCCCTGGCGTTGCTGCCCCCTCAGCCTTAGCTCACACACCTATTGGGTACCTCATCTGTGCCAGGCTTTTCCAGGCATTGAGGATGCCCTGGTGACTGAGTCAGACAAGGTCCCTGTTCTCAGGGCACTTCCATGCTAGTGGGAGAAACATACAGCAGGCCTGTCACAGGAGTGGAATAGAGAAAATGGGGCCAGATGGGGGACAGAGATGGCTGGGGTGACCTTCAGCTGGTGCTGTCAATGTGGAGGGGTGAAGTGAGCAGGTACTTGCAGCAGGAGCTGCTAGATGCAGGCTGGGGCACAGGTGTTCCAGGCAGAGGGTGAAGCACTACGAAGGCCCTGAGACAGGAAGAAGCTTGGCGTATTCAGGGACCAGCTAGAGAGGAGTGAGTGACACGCAGTGATGGGTCAGGCCCAACAAGACCCTTGTGGTGTGGGATAAGAAATTCATGTTCCACTCTGAGGGCCATGGGAGCCCCTTAGGGTCTTACTCCGTGGTGGGAGCTGCTCACTCACATTTTCAGACAGATCATTTAGCAACTGACTCCTCCAACCCAAAACAAAGCTGCCTTTATAGGGCCCACAGCTAGTCTGTCTCCAGCCCAGGCCGGTTAGAAAAGGAATGCACCCTATTCGGACTCCACAAAACCCCGCAAGGCATGTCCACGCAGGCCTGGGGCTGGCTTCCAGTCCAGAGCAAGTGCTCTTCCTCCTGCATGAGCCTCAGGCCGGCCCGGCCGCCCTCCCTGCGTCTTTCACTCTCTCCTGCCTCTCTCTCTCTTTCTCTCTCTCTCTGTGCAGATATTGTGGGCACTCTGAGGCCAGATGAGAAGGCCATCATGACTTACGTGTCCTGCTTCTACCACGCTTTCTCGGGGGCTCAGAAGGTGAGCTGGGCCAGGCACACCTCGCTGCTGGGGCTGCAGACCTGCCTTCACCACCGCCCTTGCATCACCGCTGGCCATCTGTGGTTGGAGCCCTGGCCAGGCCGTGGGCCGCCACACCACACAGACTGACCCTGCCGGCCTCTGACTCGGAAGGTCCCCTGGGGCAGGTTTCCCGCCTGGCCGGTGCTGGGCCTGTGCTGAGGAGTCACAGACCTCTGTTTGAACACAGCCCACCCTGGGAGGTGGGTGGTGGCATCCTAGGCTCTCAGGCGGGGAAACTGAAGCCCTGCATTACAGTCAATGGCAGAGCTGGGATTTGACTGCCCGGCGTTCCCACTCGCCCTGTCCATCATCTGCACCAGGGCTGCCTGCCTGCCCCTGCCAAGCCCTTCGTGGGGAGCACTGGGCTTTACCCGTTTTGCAGCTCCTTCCTGCCAGGAAAGGCTCAGCATGTGCAGCCCAACCTGCACTCACGGTCCCAGCCCTCCAGAGGCCAGGCAGAGCCCACAGAGCTTGCGTGGCAGTGGCCGCCCTCCTGGGCCCAGCTGACCTCATGCTGCCTCACAGCTCCTGCCGGGCCCTCAGCGTTCACGCAGAGGCCCAAGCACTGCTCCCCCCGCTTGCCTTGTGGTCTCTGAAGTATCTCAGGCAGCATTCCCGATGCCTGCTTTGAAGTGTCAGCAGTTGGCACAGGTTCAGAGGAGGAGGCAGAATCGATTCTTGTTTACTGAACATGTACTACACGCTAGGCACCCTCCAAGGCCTTCACATGCACAGGCTTCCAGAGGGTCCCTGTGCACACCCCCAGGAGGGCTAGGCGCAGTTAGCCCCATTTGAGAGAGGAGGAATTGAAGTTTAGGGAAACAGCTATTCCTAAAACTAGAAGGGGGGGGCCGTACCTTCTGTGGACCCCTGCTTTGAGCCTCCCAACTAGCAGGTGCATTACCTACCGTCAGTCTGGCCTGGCCCCACTCTGCCACCTCTTGGTACTGT
GTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCATGCAGGGTCCTGCTGTCATTTGCCTGTACAAAGCCTGTATGGATCCAGGCCCTGGCCACCAGAAGCTGCCAGCCTCGTGGGGGAAGGCAGGACAAAAATTGTGTCCAAAGCAAAGCACCACACCAGGCCGTGTACATGTGCTCAGGCTGAATGGGGTGGCAGGGCATGGGGTCAGATCAGTGCTGCGGAGGAGGCTAGTGTACCCCGAGCGAGCAGGAGCCAGGAAAGGTCCCGGAAGAAGAGGCAGCTTAGAGCCAGAGGAGGGCTTCCTGGGGGAGGCACCAGATGGCACCCAGCCCGTTCCAGCCACAGTGAGCAAGAGAGCTGGGCCCCGGCCAGGGAGAGTTGGAGTGCAGTGGGCTTTAGTCCTGTAAGCAGTGGGGAGCCTGTGAGGGGGCTGGGGGACACTTTAGGGTGGTTGGGACCTGGGACCTCTCGGTTTGCTCCCCTTACCCAGTCCCCAGTGCTCTCTCAGGCCTGGCCCACATCTTCCAGTCAATGTGAAAACCAGGTTTTAGGGCAAGGGGCTTAAGCTAGGGTCTGTGGGTGGCTGGAAATTGTATGAAAAGAGTACACCTGCATTTTTCTGGAGAAAAAGCCCTGGTTTGCCCCACAAAGATTTCACGAGGCACTCCTGTGAGTGGGAATTGAATTTATCCAGGCGGTGCCCTCCCGCTCACACATCACACGTGGCTGAGAACTGCCTGAAGAAACCCCCAACCCTCGCCCTCCCGGGTCTCTCCCTCTGGGCCAGCCCTGCCTCCCTCCTGCTCCTGCACCCTGCCCTGACGGAGTTCTTGTTGTCCCCACTTGCCTCCTTCTAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGGTAAGTCATCTCTTCTGTTCAGCCACCACTGTGCTTCCTGATGGCCTTTTCTGTCCAGGGCTGGCCTCGGGCAAGGGGCTGTGGGCACATCAGAGCTTTGGGTCACCTTGGGGAGCTGGCAGAGCCAGCAAGAAGGGCTGAATGATTCTGGGTGAACTGGGGACAGCCATGTCGCCCTGGGAGACAGAGCAAGGGTAGCCTGGGCTGGCCAGATGCCTTCAGGGATGAAGAAGCGTATGGGGAGGGGGAGCTGAAGGATCAACTCTCCTGAGGGTGCATCTCCTCAGGGCCCAGGAAGGGCAAGGTGGCTGAGGAGGGGTGCTTCAGGCTTCCTGCGAGCAACCCTGGCCTCTCCCTCCCTACCTGCAGCAGGCATGGAGTATGGAGCCCGACAAAGTGGAGTGTTTTGTTTTTTCCTTTTCCGGCTTTGCTCCATTTCCCAGCCATGCACTGCCCCATTTCCTAGCCATGCACTGCCCCAGCTGGGACCTGTGTCTCTGGCCTCTGGTGGCCCTTGGAGTTGACTGTCCTGCTGCTCCTTGAGGCCATTCTCAGAGAGAGGAAGTGGCCTCATTTTAATCCGCTTCCCACAGCCTTGTCCTTTCCAGACCCATGGGAGAGGGAGGGGCTGAGGGTGTGGCTGAGCCCACCCAAGTCACGCGTCACTCTGCAGGTCCCTCTCCCCCAAGGCCGTGGCCTTGGGAGCCCGTGGATCCCAGTGAGTGACGCCTCCACCCCCCGCCCTACTCGGGCAGTTTAACCCTTGTTGTTCACTTGCAGACATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGCCCAGCTTCTACCATGCCTTTTCAGGAGCGCAGAAGGTACCGAGCAGGGCCAGGCAGGCCCTCCTCGCCGCCACCGCGCAATGCCGCCGCTGCCTCTCGCCTCCCGTGCTCACCTCATTTCTCTTGCAGACGGCAGTGGCCTCTCTCCAACTGGAAGCCACCCCCAGCTCCCTGGCGTTGCTGCCCCCTCAGCCTTAGCTCACACACCTATTGGGTACCTCATCTGTGCCAGGCTTTTCCAGGCATTGAGGATGCCCTGGTGACTGAGTCAGACAAGGTCCCTGTTCTCAGGGCACTTCCATGCTAGTGGGAGAAACATACAGCAGGCCTGTCACAGGAGTGGAATAGAGAAAATGGGGCCAGATGGGGGACAGAGATGGCTGGGGTGACCTTCAGCTGGTGCTGTCAATGTGGAGGGGTGAAGTGAGCAGGTACTTGCAGCAGGAGCTGCTAGATGCAGGCTGGGGCACAGGTGTTCCAGGCAGAGGGTGAAGCACTACGAAGGCCCTGAGACAGGAAGAAGCTTGGCGTATTCAGGGACCAGCTAGAGAGGAGTGAGTGACACGCAGTGATGGGTCAGGCCCAACAAGACCCTTGTGGTGTGGGATAAGAAATTCATGTTCCACTCTGAGGGCCATGGGAGCCCCTTAGGGTCTTACTCCGTGGTGGGAGCTGCTCACTCACATTTTCAGACAGATCATTTAGCAACTGACTCCTCCAACCCAAAACAAAGCTGCCTTTATAGGGCCCACAGCTAGTCTGTCTCCAGCCCAGGCCGGTTAGAAAAGGAATGCACCCTATTCGGACTCCACAAAACCCCGCAAGGCATGTCCACGCAGGCCTGGGGCTGGCTTCCAGTCCAGAGCAAGTGCTCTTCCTCCTGCATGAGCCTCAGGCCGGCCCGGCCGCCCTCCCTGCGTCTTTCACTCTCTCCTGCCTCTCTCTCTCTTTCTCTCTCTCTCTGTGCAGATATTGTGGGCACTCTGAGGCCAGATGAGAAGGCCATCATGACTTACGTGTCCTGCTTCTACCACGCTTTCTCGGGGGCTCAGAAGGTGAGCTGGGCCAGGCACACCTCGCTGCTGGGGCTGCAGACCTGCCTTCACCACCGCCCTTGCATCACCGCTGGCCATCTGTGGTTGGAGCCCTGGCCAGGCCGTGGGCCGCCACACCACACAGACTGACCCTGCCGGCCTCTGACTCGGAAGGTCCCCTGGGGCAGGTTTCCCGCCTGGCCGGTGCTGGGCCTGTGCTGAGGAGTCACAGACCTCTGTTTGAACACAGCCCACCCTGGGAGGTGGGTGGTGGCATCCTAGGCTCTCAGGCGGGGAAACTGAAGCCCTGCATTACAGTCAATGGCAGAGCTGGGATTTGACTGCCCGGCGTTCCCACTCGCCCTGTCCATCATCTGCACCAGGGCTGCCTGCCTGCCCCTGCCAAGCCCTTCGTGGGGAGCACTGGGCTTTACCCGTTTTGCAGCTCCTTCCTGCCAGGAAAGGCTCAGCATGTGCAGCCCAACCTGCACTCACGGTCCCAGCCCTCCAGAGGCCAGGCAGAGCCCACAGAGCTTGCGTGGCAGTGGCCGCCCTCCTGGGCCCAGCTGACCTCATGCTGCCTCACAGCTCCTGCCGGGCCCTCAGCGTTCACGCAGAGGCCCAAGCACTGCTCCCCCCGCTTGCCTTGTGGTCTCTGAAGTATCTCAGGCAGCATTCCCGATGCCTGCTTTGAAGTGTCAGCAGTTGGCACAGGTTCAGAGGAGGAGGCAGAATCGATTCTTGTTTACTGAACATGTACTACACGCTAGGCACCCTCCAAGGCCTTCACATGCACAGGCTTCCAGAGGGTCCCTGTGCACACCCCCAGGAGGGCTAGGCGCAGTTAGCCCCATTTGAGAGAGGAGGAATTGAAGTTTAGGGAAACAGCTATTCCTAAAACTAGAAGGGGGGGGCCGTACCTTCTGTGGACCCCTGCTTTGAGCCTCCCAACTAGCAGGTGCATTACCTACCGTCAGTCTGGCCTGGCCCCACTCTGCCACCTCTTGGTACTGT
Task1_train_27138
This mutation occurs in SARS2 (seryl-tRNA synthetase 2, mitochondrial) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
GGTGGGGTCAGGGAGGAGAGAACAGTAGGCAGAGTCTGGAAATCTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTAGTAGTGTGATCCCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGAATTCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGCCCGCCACCACACCCAGCTCTTTTTTTTTTTAGATGGAGTCTCGCACTGTAGCCCATGCTGGAGTGCAGTGGCGCGATCTCCACTCACCACAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGACCTCAGGTGATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCTGGCCAGATTCTGGAAATATTCTGAAGGCGGTGTTGCCAGGGTTGCTAATGAAGTGGAGTGGATATGAGATAAAAGTCGAGGCTAACCCGAAGGGCTGTGGCCTGGGCAGCCGGGAGAATGTGCTGGGATGGGCATGCCTGAGGAGGAGCAGGTGCAGGCCAAGTGATCAGAGGACCAGGTAGCTTCCCTGAGTTTGGGATGCCCACTGGGCCCCTACCTGGAGCTGCAGAAGGGACAGCTGCATGGGGAGCTGGGGACTGAGGGGTGAGGCTGGGGCTGGGGTCAGCTCGAAGGAACCCTCAGAGGGTGACTCTGTTCTGGCTTGTCCCAGAGGAAGGGGAGAGAATTCAGCATCCTCTCAGCAACCCTGGTGGCCCCAGGCCAGCCTCCATGTGCACTGGGGGGTGGCTAGGCACTTCCAGCCATGGTCTTTGCAGCCACAGACCCTTTGAGGATAGTGCCTCCAAGCGGCTGCTCAGCAGCTCCTAGAGAGCCAGGCATCTCCCTTGTTCACAGATCCACAGAGGCCTTTGTCCTGACCATTTATTGGGGACTTTTTGCTCAGCACTGTAGGAGGAAAGAAGGAAGGAGGGATGGAAGCCTCTTCCTCTGCTTCTCCTGTCCCTAGAACCGTAAAGCCCAGACGTCCTGCTTCCCACTGGGACCCTCAATGATAACAGGGTCAGTGACTGACTCTGAGGCAGCAAGGACAGAGGAGAGGTGGACCCCGTGGTCCAGGGGCCCGGGCGTGGAGCTGACAGGAAGAACACAGATGTCAGGACGGGCTCAGCAACACAGGTCCCAGGTGTCCGGGGTCTCCTGAACTCCAGGAAGCAGTGACACCCCCGAGGGCTGCTGTGGGTGGGTTCTTAGCTTACAGCAGGCTGGCCAGGCAGCCCAGGCTTCCGGGGCTGGTTGGGGCCGATGTACTGGAGAGGCACGTGGGTAGGGGCTGTGATCCGATCAGTGCCGAGGTAGGACTGGAGGGCAGGGGGCACGAGCACTGAGCCGTCCTGGGGACAGAGCAGACCTCAGGACACTGCAGATGCCCCAGCCCTCCCCGGCGCTGAGCTGCCTCTCTGGGTGGGCCCCTCAGCCCCTCACCTTCTGCTGGTTACTCTCCAGGAGCGCGATGAGAAGGCGGGGGACAGCACAGGCGGTGGCGTTCACCTGTGAGACAGCCATGCTCGGAACTGGCGCCCACCCCAAGCTGAGCCCGGGGAGGAGCCAAGGTGGGTGGGTCTAGGGCGGCAGAGGCTGCGGGCGAGGGCACGCGGGCAGGAGGCTGTGCGGGCCTCACCGTGTGGGCAAACTGCAGCTCCCCAGCCTCGGTCTGGAACATGATGTGGAGGCGGCGGCTCTGGAAGTCTGTGCAGTTGGAAGCACTGGTGACCTGGGGTGGAGGAGCGGCAGGCTGAGCGGATCAGGGATGGGGGGCAGGCCTGTCCTCCTGCCCACCCCGTCCCCAGCGGCACAGGGCTCACCTCTCCAAAGCGGCCTCGGCCTGGCATCCAGGCCTCAATGTCAAACTTGCGGTAGGCGGGGAGGCCCAGTTCTTGGGTGGGCATATCCAGGACCCTGCGGTCAAGGACGAAGGTGTGGGGAAGGTCAGCGGGTGAGAGGAGGAGCAAGAGGAACAAATGGAAACGATGGAAGAGAAGGCAGCCAAAAAGCAGGAAAAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGACCTCATCTACTCCAAAAAAACAAACAAAAAAAAGGAGACGATAGTGCCAAAGGAGAGAGTTGTGAGGCCAGGGGTGGTTATGGAGAAGGTGGTACATGGAGGGGGAAGCACAAAAGAGGTTGATGGGAGGGGAAAAAGGCACGTGGCAGGGTCCACCGGCTCTTCACAGTGGCCATTCACACATTTGCACCTTCTAGGCACCCTCGGTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGCTGGAGAGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTTCAGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGATGGGATTACAGGTGTGTGCCACCATGCCCGGCTGATTTTTATATTTTTAGTATAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCCCGGCCTCCCAAAGTGCTGGGATTGTAGGTGTGAGCCACCGTGCCTGGCCTTTATTTTTTTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCCAGGCTAGAGTGCAGTGGCATGATCACAGCTCATTGTAGCCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACCACAGGTGTGTGCCACCATACCCGGCTAATTTTAAAAAACGTAAAGACGAGCTCTCGCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCATGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCACACCCGGCTTACGCTCCCAGTTTTTTACAATGGGTCACCCAGAAAAGAAGTCCACATTTCTCAGCCTCTCTTGAAAGCTGCGTGTGACTGACAGGGTGAGAGGAAGTGGGGTTCCCAACCTCTGGCTCCCCCTTTTCCCACCCCCACTCTCCACTGGGAGGTGAAAAAGTATCTTGGGTTGCACAGATGAGGCAGTGGCCCAGAGAGAGGGGGAGCAGCAGGAGGAAAGGGGCCCGGGTCTCCACTCTGGCACACCGTGCACTGTTCGTGCTTCTGTTACAGTCCTGTGAGGGACGACCGGCACACGGCAGACAGATTGGGATCCTGTATATGCTCCTGTAATCCTTGTACAGGAAAATGGGGGCAACGAGGGGGCTGGAGAGGTGGTTCCAGAGCGAAGAGCAGCTGGCCAGCCCCTTGTCCCTCCCCTACCCCACCCCTGCCATCCCTGGATCCCTGGCCCCTCTCCACACCGGAAGTGCAAGCCCAGCTCTGTCAAGATCTCCATCTGAAGGGACAGGAACTCCTCCAGCAGCTGTGAGCTCTGCTCCAGCCCAGGGCCTGTCACCCCAAACATCTCCACCTGGGACAGAGGGCACAGGAGTCAGGAGGCTCTGAGCTCTTGGGGTGGCCCCCCACCCCAGCCCCGTTTAGTCCCAGCGACACCAGCCTTGGTGAAGTGGTGTACTCGATACAGCCCCCGGGGTTCCTGTCCCGTGTTTGTCTCTGCCCGGTAGCAGGTGCTGGAGCAAACCATCCTGGCAGAGAGCAGGGAAAGTCGGGTCAAGGAGGGAAGACTGATTGTCACAGGTGGGGTCAAGGTCTAAGGAAACCAGGTGTCACCTGACTGGCAGGTCCCTGAAGGCCACGGTGTGGTCCATGAAGTAGCCTGGGAGGAGAGACCACAGGGTGAGCCAGGGCTGCCAGTGCCCAGAGGAAGCCTTTGGAAGATTAAGAGGCACTCCCTCTGGTGGATGCAACCCCAGGTCAAGGCCCGGGGCTGGATTATCACTGTACTGCTGTACAGTAAACAACCTACACAGCCGTACATGTTGGCCCTGGGGCTGCTGAGCTGCTCGGGGCAGGTGATCCCCCCCAGTGCT
GGTGGGGTCAGGGAGGAGAGAACAGTAGGCAGAGTCTGGAAATCTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTAGTAGTGTGATCCCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGAATTCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGCCCGCCACCACACCCAGCTCTTTTTTTTTTTAGATGGAGTCTCGCACTGTAGCCCATGCTGGAGTGCAGTGGCGCGATCTCCACTCACCACAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGACCTCAGGTGATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCTGGCCAGATTCTGGAAATATTCTGAAGGCGGTGTTGCCAGGGTTGCTAATGAAGTGGAGTGGATATGAGATAAAAGTCGAGGCTAACCCGAAGGGCTGTGGCCTGGGCAGCCGGGAGAATGTGCTGGGATGGGCATGCCTGAGGAGGAGCAGGTGCAGGCCAAGTGATCAGAGGACCAGGTAGCTTCCCTGAGTTTGGGATGCCCACTGGGCCCCTACCTGGAGCTGCAGAAGGGACAGCTGCATGGGGAGCTGGGGACTGAGGGGTGAGGCTGGGGCTGGGGTCAGCTCGAAGGAACCCTCAGAGGGTGACTCTGTTCTGGCTTGTCCCAGAGGAAGGGGAGAGAATTCAGCATCCTCTCAGCAACCCTGGTGGCCCCAGGCCAGCCTCCATGTGCACTGGGGGGTGGCTAGGCACTTCCAGCCATGGTCTTTGCAGCCACAGACCCTTTGAGGATAGTGCCTCCAAGCGGCTGCTCAGCAGCTCCTAGAGAGCCAGGCATCTCCCTTGTTCACAGATCCACAGAGGCCTTTGTCCTGACCATTTATTGGGGACTTTTTGCTCAGCACTGTAGGAGGAAAGAAGGAAGGAGGGATGGAAGCCTCTTCCTCTGCTTCTCCTGTCCCTAGAACCGTAAAGCCCAGACGTCCTGCTTCCCACTGGGACCCTCAATGATAACAGGGTCAGTGACTGACTCTGAGGCAGCAAGGACAGAGGAGAGGTGGACCCCGTGGTCCAGGGGCCCGGGCGTGGAGCTGACAGGAAGAACACAGATGTCAGGACGGGCTCAGCAACACAGGTCCCAGGTGTCCGGGGTCTCCTGAACTCCAGGAAGCAGTGACACCCCCGAGGGCTGCTGTGGGTGGGTTCTTAGCTTACAGCAGGCTGGCCAGGCAGCCCAGGCTTCCGGGGCTGGTTGGGGCCGATGTACTGGAGAGGCACGTGGGTAGGGGCTGTGATCCGATCAGTGCCGAGGTAGGACTGGAGGGCAGGGGGCACGAGCACTGAGCCGTCCTGGGGACAGAGCAGACCTCAGGACACTGCAGATGCCCCAGCCCTCCCCGGCGCTGAGCTGCCTCTCTGGGTGGGCCCCTCAGCCCCTCACCTTCTGCTGGTTACTCTCCAGGAGCGCGATGAGAAGGCGGGGGACAGCACAGGCGGTGGCGTTCACCTGTGAGACAGCCATGCTCGGAACTGGCGCCCACCCCAAGCTGAGCCCGGGGAGGAGCCAAGGTGGGTGGGTCTAGGGCGGCAGAGGCTGCGGGCGAGGGCACGCGGGCAGGAGGCTGTGCGGGCCTCACCGTGTGGGCAAACTGCAGCTCCCCAGCCTCGGTCTGGAACATGATGTGGAGGCGGCGGCTCTGGAAGTCTGTGCAGTTGGAAGCACTGGTGACCTGGGGTGGAGGAGCGGCAGGCTGAGCGGATCAGGGATGGGGGGCAGGCCTGTCCTCCTGCCCACCCCGTCCCCAGCGGCACAGGGCTCACCTCTCCAAAGCGGCCTCGGCCTGGCATCCAGGCCTCAATGTCAAACTTGCGGTAGGCGGGGAGGCCCAGTTCTTGGGTGGGCATACCCAGGACCCTGCGGTCAAGGACGAAGGTGTGGGGAAGGTCAGCGGGTGAGAGGAGGAGCAAGAGGAACAAATGGAAACGATGGAAGAGAAGGCAGCCAAAAAGCAGGAAAAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGACCTCATCTACTCCAAAAAAACAAACAAAAAAAAGGAGACGATAGTGCCAAAGGAGAGAGTTGTGAGGCCAGGGGTGGTTATGGAGAAGGTGGTACATGGAGGGGGAAGCACAAAAGAGGTTGATGGGAGGGGAAAAAGGCACGTGGCAGGGTCCACCGGCTCTTCACAGTGGCCATTCACACATTTGCACCTTCTAGGCACCCTCGGTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGCTGGAGAGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTTCAGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGATGGGATTACAGGTGTGTGCCACCATGCCCGGCTGATTTTTATATTTTTAGTATAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCCCGGCCTCCCAAAGTGCTGGGATTGTAGGTGTGAGCCACCGTGCCTGGCCTTTATTTTTTTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCCAGGCTAGAGTGCAGTGGCATGATCACAGCTCATTGTAGCCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACCACAGGTGTGTGCCACCATACCCGGCTAATTTTAAAAAACGTAAAGACGAGCTCTCGCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCATGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCACACCCGGCTTACGCTCCCAGTTTTTTACAATGGGTCACCCAGAAAAGAAGTCCACATTTCTCAGCCTCTCTTGAAAGCTGCGTGTGACTGACAGGGTGAGAGGAAGTGGGGTTCCCAACCTCTGGCTCCCCCTTTTCCCACCCCCACTCTCCACTGGGAGGTGAAAAAGTATCTTGGGTTGCACAGATGAGGCAGTGGCCCAGAGAGAGGGGGAGCAGCAGGAGGAAAGGGGCCCGGGTCTCCACTCTGGCACACCGTGCACTGTTCGTGCTTCTGTTACAGTCCTGTGAGGGACGACCGGCACACGGCAGACAGATTGGGATCCTGTATATGCTCCTGTAATCCTTGTACAGGAAAATGGGGGCAACGAGGGGGCTGGAGAGGTGGTTCCAGAGCGAAGAGCAGCTGGCCAGCCCCTTGTCCCTCCCCTACCCCACCCCTGCCATCCCTGGATCCCTGGCCCCTCTCCACACCGGAAGTGCAAGCCCAGCTCTGTCAAGATCTCCATCTGAAGGGACAGGAACTCCTCCAGCAGCTGTGAGCTCTGCTCCAGCCCAGGGCCTGTCACCCCAAACATCTCCACCTGGGACAGAGGGCACAGGAGTCAGGAGGCTCTGAGCTCTTGGGGTGGCCCCCCACCCCAGCCCCGTTTAGTCCCAGCGACACCAGCCTTGGTGAAGTGGTGTACTCGATACAGCCCCCGGGGTTCCTGTCCCGTGTTTGTCTCTGCCCGGTAGCAGGTGCTGGAGCAAACCATCCTGGCAGAGAGCAGGGAAAGTCGGGTCAAGGAGGGAAGACTGATTGTCACAGGTGGGGTCAAGGTCTAAGGAAACCAGGTGTCACCTGACTGGCAGGTCCCTGAAGGCCACGGTGTGGTCCATGAAGTAGCCTGGGAGGAGAGACCACAGGGTGAGCCAGGGCTGCCAGTGCCCAGAGGAAGCCTTTGGAAGATTAAGAGGCACTCCCTCTGGTGGATGCAACCCCAGGTCAAGGCCCGGGGCTGGATTATCACTGTACTGCTGTACAGTAAACAACCTACACAGCCGTACATGTTGGCCCTGGGGCTGCTGAGCTGCTCGGGGCAGGTGATCCCCCCCAGTGCT
Task1_train_27139
A variant on Chromosome 19 in gene SARS2 (seryl-tRNA synthetase 2, mitochondrial) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
GGGACAGCACAGGCGGTGGCGTTCACCTGTGAGACAGCCATGCTCGGAACTGGCGCCCACCCCAAGCTGAGCCCGGGGAGGAGCCAAGGTGGGTGGGTCTAGGGCGGCAGAGGCTGCGGGCGAGGGCACGCGGGCAGGAGGCTGTGCGGGCCTCACCGTGTGGGCAAACTGCAGCTCCCCAGCCTCGGTCTGGAACATGATGTGGAGGCGGCGGCTCTGGAAGTCTGTGCAGTTGGAAGCACTGGTGACCTGGGGTGGAGGAGCGGCAGGCTGAGCGGATCAGGGATGGGGGGCAGGCCTGTCCTCCTGCCCACCCCGTCCCCAGCGGCACAGGGCTCACCTCTCCAAAGCGGCCTCGGCCTGGCATCCAGGCCTCAATGTCAAACTTGCGGTAGGCGGGGAGGCCCAGTTCTTGGGTGGGCATATCCAGGACCCTGCGGTCAAGGACGAAGGTGTGGGGAAGGTCAGCGGGTGAGAGGAGGAGCAAGAGGAACAAATGGAAACGATGGAAGAGAAGGCAGCCAAAAAGCAGGAAAAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGACCTCATCTACTCCAAAAAAACAAACAAAAAAAAGGAGACGATAGTGCCAAAGGAGAGAGTTGTGAGGCCAGGGGTGGTTATGGAGAAGGTGGTACATGGAGGGGGAAGCACAAAAGAGGTTGATGGGAGGGGAAAAAGGCACGTGGCAGGGTCCACCGGCTCTTCACAGTGGCCATTCACACATTTGCACCTTCTAGGCACCCTCGGTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGCTGGAGAGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTTCAGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGATGGGATTACAGGTGTGTGCCACCATGCCCGGCTGATTTTTATATTTTTAGTATAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCCCGGCCTCCCAAAGTGCTGGGATTGTAGGTGTGAGCCACCGTGCCTGGCCTTTATTTTTTTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCCAGGCTAGAGTGCAGTGGCATGATCACAGCTCATTGTAGCCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACCACAGGTGTGTGCCACCATACCCGGCTAATTTTAAAAAACGTAAAGACGAGCTCTCGCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCATGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCACACCCGGCTTACGCTCCCAGTTTTTTACAATGGGTCACCCAGAAAAGAAGTCCACATTTCTCAGCCTCTCTTGAAAGCTGCGTGTGACTGACAGGGTGAGAGGAAGTGGGGTTCCCAACCTCTGGCTCCCCCTTTTCCCACCCCCACTCTCCACTGGGAGGTGAAAAAGTATCTTGGGTTGCACAGATGAGGCAGTGGCCCAGAGAGAGGGGGAGCAGCAGGAGGAAAGGGGCCCGGGTCTCCACTCTGGCACACCGTGCACTGTTCGTGCTTCTGTTACAGTCCTGTGAGGGACGACCGGCACACGGCAGACAGATTGGGATCCTGTATATGCTCCTGTAATCCTTGTACAGGAAAATGGGGGCAACGAGGGGGCTGGAGAGGTGGTTCCAGAGCGAAGAGCAGCTGGCCAGCCCCTTGTCCCTCCCCTACCCCACCCCTGCCATCCCTGGATCCCTGGCCCCTCTCCACACCGGAAGTGCAAGCCCAGCTCTGTCAAGATCTCCATCTGAAGGGACAGGAACTCCTCCAGCAGCTGTGAGCTCTGCTCCAGCCCAGGGCCTGTCACCCCAAACATCTCCACCTGGGACAGAGGGCACAGGAGTCAGGAGGCTCTGAGCTCTTGGGGTGGCCCCCCACCCCAGCCCCGTTTAGTCCCAGCGACACCAGCCTTGGTGAAGTGGTGTACTCGATACAGCCCCCGGGGTTCCTGTCCCGTGTTTGTCTCTGCCCGGTAGCAGGTGCTGGAGCAAACCATCCTGGCAGAGAGCAGGGAAAGTCGGGTCAAGGAGGGAAGACTGATTGTCACAGGTGGGGTCAAGGTCTAAGGAAACCAGGTGTCACCTGACTGGCAGGTCCCTGAAGGCCACGGTGTGGTCCATGAAGTAGCCTGGGAGGAGAGACCACAGGGTGAGCCAGGGCTGCCAGTGCCCAGAGGAAGCCTTTGGAAGATTAAGAGGCACTCCCTCTGGTGGATGCAACCCCAGGTCAAGGCCCGGGGCTGGATTATCACTGTACTGCTGTACAGTAAACAACCTACACAGCCGTACATGTTGGCCCTGGGGCTGCTGAGCTGCTCGGGGCAGGTGATCCCCCCCAGTGCTCCCTGGACGCTCCCAGTTGTCCTTCCACATCACTCCTGCTCCTCCCCACCACCCACACAGGTCCTCACCTGCAAGCCCCACCTCCGCTGTTCCAGCCAGGTTGAGATCTTTGAAGCGGGCAGGGTCGATGTTGTAAATTTGGGATGGGTTGGCATTTGGTGTCATCCCACAGCCTTCCTGGGGGAGGAGGCCAGGCCACAGGGATCAGGGGACAGGTAACCCTGGCCTCTCGTTTTACAGTCCCAACCCCAGCTCCTCCCCTGAAAACATCTGGAGCTGCCCTGGCCTCCCTGGTATGGCCTGGCCCCCTCAACCCAGCCCCAGGGCGGTCTCCTCAGGTTTCCCTGCCTCGGGCACCCACGGCAGGGCCTGACACCCAGGTGGGCGAGGGAAGCGGAGAGGCCTCACTCACAAACACTGCTCCGCGGAGAAGGTCTGGCACCGTCATGGGGGTGAAGCCCTGTTCAGGGGAGAGGATGAGTGAGCAGAGCTGGGACCCCTACCAGACCCCAAGCTCAGCCCTGAAGAAGGGGTGCTGCAGAGCCCCTTCCTCCTCAGACGAAACTGAGGCAGGGGCTGGCGCAGTGGCTCACCCATGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCCTCTCCACTAAAAAGGCAAAAATTAGCCGGCATGGAGATCGTGCTACTGCACTCCAGTCTGGGTGACAGAGCGAACTCTGTCAAAAAGAAAAAAAAAAAAATTAGCCAGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTACTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAACAAAAAAGTACAGATTTGGCCACACCCTCCCCTGCTTAAAAGCCTCCCATGGCTCCCTAGTACCCTCTGAAAATGTCTGAGTTCCTCACCGTGACCAATGCTCCATGCAACCAGTCCCTGCCATGTTTCAATGGATGCTATGATTCCCAAATGCTCCCTTTATACCGCAAGCAGGCAGTGAGGTGCAATGATTACAAGCACAGGCTCTAGGCCCAGCTCCAGACTGGCTGTGAGACCTTGGGCTATAGGTACCTCCCCTCTCTGGGCCTCAAGCCCTCTCTGTAAAGTGGGGATGATGACAGCACCCACTTCATAAAGTTGTCGTAAGGACTAAATGTGTCAATGATACACATGAAGCTCTGAGAGCAGTGACTAGGGCAGAGCAGAGATCACTCCCATCCCCGTTGGGCCCTCTGAGCTCAGCTTCGATGCCACCCCCTCCAGGCAGCCCTCCTATCTTGGCCCATACCCGGCGGAGAAGCTTGTTGAATGTGAAGTTGACCAGGCCGTGCTGCAGGAGGGCTCCAGCCCCGCGCAGGTAATAGGACCGGTGGCCAGACACGTGGGACAGGCGCCTGGGAGACAGACAGACAGGCGGGTGCACATGGGCCAGGCTGGCAGGGAATGTGGGGATGAAAACACCCGGGGGAAGAGGCCCGGCTGCTGGGTGGGGCTGGGGCATCA
GGGACAGCACAGGCGGTGGCGTTCACCTGTGAGACAGCCATGCTCGGAACTGGCGCCCACCCCAAGCTGAGCCCGGGGAGGAGCCAAGGTGGGTGGGTCTAGGGCGGCAGAGGCTGCGGGCGAGGGCACGCGGGCAGGAGGCTGTGCGGGCCTCACCGTGTGGGCAAACTGCAGCTCCCCAGCCTCGGTCTGGAACATGATGTGGAGGCGGCGGCTCTGGAAGTCTGTGCAGTTGGAAGCACTGGTGACCTGGGGTGGAGGAGCGGCAGGCTGAGCGGATCAGGGATGGGGGGCAGGCCTGTCCTCCTGCCCACCCCGTCCCCAGCGGCACAGGGCTCACCTCTCCAAAGCGGCCTCGGCCTGGCATCCAGGCCTCAATGTCAAACTTGCGGTAGGCGGGGAGGCCCAGTTCTTGGGTGGGCATATCCAGGACCCTGCGGTCAAGGACGAAGGTGTGGGGAAGGTCAGCGGGTGAGAGGAGGAGCAAGAGGAACAAATGGAAACGATGGAAGAGAAGGCAGCCAAAAAGCAGGAAAAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGACCTCATCTACTCCAAAAAAACAAACAAAAAAAAGGAGACGATAGTGCCAAAGGAGAGAGTTGTGAGGCCAGGGGTGGTTATGGAGAAGGTGGTACATGGAGGGGGAAGCACAAAAGAGGTTGATGGGAGGGGAAAAAGGCACGTGGCAGGGTCCACCGGCTCTTCACAGTGGCCATTCACACATTTGCACCTTCTAGGCACCCTCGGTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGCTGGAGAGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTTCAGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGATGGGATTACAGGTGTGTGCCACCATGCCCGGCTGATTTTTATATTTTTAGTATAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCCCGGCCTCCCAAAGTGCTGGGATTGTAGGTGTGAGCCACCGTGCCTGGCCTTTATTTTTTTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCCAGGCTAGAGTGCAGTGGCATGATCACAGCTCATTGTAGCCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACCACAGGTGTGTGCCACCATACCCGGCTAATTTTAAAAAACGTAAAGACGAGCTCTCGCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCATGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCACACCCGGCTTACGCTCCCAGTTTTTTACAATGGGTCACCCAGAAAAGAAGTCCACATTTCTCAGCCTCTCTTGAAAGCTGCGTGTGACTGACAGGGTGAGAGGAAGTGGGGTTCCCAACCTCTGGCTCCCCCTTTTCCCACCCCCACTCTCCACTGGGAGGTGAAAAAGTATCTTGGGTTGCACAGATGAGGCAGTGGCCCAGAGAGAGGGGGAGCAGCAGGAGGAAAGGGGCCCGGGTCTCCACTCTGGCACACCGTGCACTGTTCGTGCTTCTGTTACAGTCCTGTGAGGGACGACCGGCACACGGCAGACAGATTGGGATCCTGTATATGCTCCTGTAATCCTTGTACAGGAAAATGGGGGCAACGAGGGGGCTGGAGAGGTGGTTCCAGAGCGAAGAGCAGCTGGCCAGCCCCTTGTCCCTCCCCTACCCCACCCCTGCCATCCCTGGATCCCTGGCCCCTCTCCACACCGGAAGTGCAAGCCCAGCTCTGTCAAGATCTCCATCTGAAGGGACAGGAACTCCTCCAGCAGCTGTGAGCTCTGCTCCAGCCCAGGGCCTGTCACCCCAAACATCTCCACCTGGGACAGAGGGCACAGGAGTCAGGAGGCTCTGAGCTCTTGGGGTGGCCCCCCACCCCAGCCCCGTTTAGTCCCAGCGACACCAGCCTTGGTGAGGTGGTGTACTCGATACAGCCCCCGGGGTTCCTGTCCCGTGTTTGTCTCTGCCCGGTAGCAGGTGCTGGAGCAAACCATCCTGGCAGAGAGCAGGGAAAGTCGGGTCAAGGAGGGAAGACTGATTGTCACAGGTGGGGTCAAGGTCTAAGGAAACCAGGTGTCACCTGACTGGCAGGTCCCTGAAGGCCACGGTGTGGTCCATGAAGTAGCCTGGGAGGAGAGACCACAGGGTGAGCCAGGGCTGCCAGTGCCCAGAGGAAGCCTTTGGAAGATTAAGAGGCACTCCCTCTGGTGGATGCAACCCCAGGTCAAGGCCCGGGGCTGGATTATCACTGTACTGCTGTACAGTAAACAACCTACACAGCCGTACATGTTGGCCCTGGGGCTGCTGAGCTGCTCGGGGCAGGTGATCCCCCCCAGTGCTCCCTGGACGCTCCCAGTTGTCCTTCCACATCACTCCTGCTCCTCCCCACCACCCACACAGGTCCTCACCTGCAAGCCCCACCTCCGCTGTTCCAGCCAGGTTGAGATCTTTGAAGCGGGCAGGGTCGATGTTGTAAATTTGGGATGGGTTGGCATTTGGTGTCATCCCACAGCCTTCCTGGGGGAGGAGGCCAGGCCACAGGGATCAGGGGACAGGTAACCCTGGCCTCTCGTTTTACAGTCCCAACCCCAGCTCCTCCCCTGAAAACATCTGGAGCTGCCCTGGCCTCCCTGGTATGGCCTGGCCCCCTCAACCCAGCCCCAGGGCGGTCTCCTCAGGTTTCCCTGCCTCGGGCACCCACGGCAGGGCCTGACACCCAGGTGGGCGAGGGAAGCGGAGAGGCCTCACTCACAAACACTGCTCCGCGGAGAAGGTCTGGCACCGTCATGGGGGTGAAGCCCTGTTCAGGGGAGAGGATGAGTGAGCAGAGCTGGGACCCCTACCAGACCCCAAGCTCAGCCCTGAAGAAGGGGTGCTGCAGAGCCCCTTCCTCCTCAGACGAAACTGAGGCAGGGGCTGGCGCAGTGGCTCACCCATGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCCTCTCCACTAAAAAGGCAAAAATTAGCCGGCATGGAGATCGTGCTACTGCACTCCAGTCTGGGTGACAGAGCGAACTCTGTCAAAAAGAAAAAAAAAAAAATTAGCCAGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTACTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAACAAAAAAGTACAGATTTGGCCACACCCTCCCCTGCTTAAAAGCCTCCCATGGCTCCCTAGTACCCTCTGAAAATGTCTGAGTTCCTCACCGTGACCAATGCTCCATGCAACCAGTCCCTGCCATGTTTCAATGGATGCTATGATTCCCAAATGCTCCCTTTATACCGCAAGCAGGCAGTGAGGTGCAATGATTACAAGCACAGGCTCTAGGCCCAGCTCCAGACTGGCTGTGAGACCTTGGGCTATAGGTACCTCCCCTCTCTGGGCCTCAAGCCCTCTCTGTAAAGTGGGGATGATGACAGCACCCACTTCATAAAGTTGTCGTAAGGACTAAATGTGTCAATGATACACATGAAGCTCTGAGAGCAGTGACTAGGGCAGAGCAGAGATCACTCCCATCCCCGTTGGGCCCTCTGAGCTCAGCTTCGATGCCACCCCCTCCAGGCAGCCCTCCTATCTTGGCCCATACCCGGCGGAGAAGCTTGTTGAATGTGAAGTTGACCAGGCCGTGCTGCAGGAGGGCTCCAGCCCCGCGCAGGTAATAGGACCGGTGGCCAGACACGTGGGACAGGCGCCTGGGAGACAGACAGACAGGCGGGTGCACATGGGCCAGGCTGGCAGGGAATGTGGGGATGAAAACACCCGGGGGAAGAGGCCCGGCTGCTGGGTGGGGCTGGGGCATCA
Task1_train_27140
A variant has been detected on Chromosome 19 in TIMM50 (translocase of inner mitochondrial membrane 50). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Mitochondrial encephalopathy
CGTGGCGTCAGCGCAAGATGGCGGCCTCGGCAGCGGTGTTCTCGCGCTTGCGAAGCGGGCTCCGGCTCGGCTCGCGGGGACTGTGCACGAGGTTGGCGACGCCGCCCCGCCGGGCCCCAGATCAGGTGAGCGGAACGAGGGTGGCCCTCTGAATGTGGGGTCCCTTCCCTGGAGTTACGGACATATCGCCGCCCCTTGGGGGTTCCGGGACGCCTCACCTCAGGGTGCTGAATGAAACGCCGCTTGTGTTTTGGGGCCCTTCCCAACCTCCTGGGTGGTTGCTCCCCTAGGCTGGAGGCTGGGAATCCAGGTGTGTCCTTAGACCCCACCTCCCACCCACGTGGGTGCCGGAGGAGGAGGGGGTTACCGTTCCCCGTTTCAGTGACCACTCAGGTGATACTTGAGCAGGAGGGGCCTGGGACGCTGGAGTCCCAGTCTGGCCGTGGGAGTTATTTTCTCTGTGGCGTTGGTGGTGGCGAGGTAGACGTTTGGGTTTCCAATTCGACTTGCCTCCATGTTGACAGAGACCCAGCCATTCTGACCTCCAAGTCTATCACTTCTGTGCCTTAGTTCCCCAAGCCCCAGACAAGTGATTGCCCTTCCCCGCCTCCGCTCCTATCCCTTACCCTATAACTCTGCTACTTTTAGCCCCAAGCAGCCGGACGTCGTAACTCCCGGTTCTGTCTGTACCCCTTCCCCCACCACTTGTGCCCTCCGTTCCCTCTCATCCCAGTGTTTAGGCCCTCCCATCCCTTATTCTCCGTGCTTTGCTTTTCTGGGCTGCAGACCCTCCAGTCCTGTTGCCTTCAGGATCCTGTGCACCTGGCCTGTTAGCTTTTAAAACTCCTGGCATCCTGGTGCGGGACAGTCTGGTTTTGACCCTCTGAGCAGCCCCACATCCTGACTGCTACTCCAGGGACACAGATGTCCAGGGCTCTGTGGGTGTCTGCCTCTTGGCTCCTGAACTTGATTCTTCTTGGACTGGAGGGTGGGGACCATCCTGACCTCTCTTCTCTCTTGGCTGACCTCCCCTTTCTCAACCGCAGGCCGCAGAGATCGGGAGCCGCGGGAGCACTAAGGCGCAAGGGCCACAGCAGCAGCCGGGCTCAGAGGGTCCCAGCTATGCCAAAAAAGTTGCGCTCTGGCTTGCTGGGCTGCTTGGAGCTGGTGGGACTGTGAGCGTCGTCTATATCTTTGGTGAGGGACATATCCCTGTCCCCCAGTTTTGTTCCTTGGCCTCCCTGGTCCACTGTGGAACCTCCCACTCTTGCCCACTACCAGCTTCTCTCGTCTTCATTCCCTGGCTCCTTCCTCAATAGGGCAGCCAAATAAGACACCTACCTTGAAAACCAGGGAAGTCTTCTTTCTTCTCCCTTCCACTCCTTAAGGTTCTAGTCTTTCTAGTTGGTTCCTGTACCAGGATAAAGGAAAGAGGGGAAGATGGGGAAGGATAGGCCTGGATCAGCTTCCTAAACTTTGTCTTTCCTCAGCAGCCAAAAATCCAGCCTTCCCACTAGTTACTTTAAATCCCACAGACCCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGACGGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCCGGTGTGGTGGCGGGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAATCCCACAGACCCAAAAGACCTAGCCCCAGCCCCATTTCTCTCAAAGACCCAGGAATCTTGGCTCCCAGCCCCCTCCTGGCTTGACTCCAGGAGGCTGTGCCTCTCTCTTTCCTCAGATCCAGGAGTCCAGGCCCCTTATCCCACTCCTCCCTCGGGACCCAGGGGACTGGGCCCTAATTCCTCATATTCATCCTGGTCTCCCTTGCAGGAAACAACCCGGTGGACGAAAATGGTGCCAAGGTGAGGGGGAAAGAGACCGAGGCCTTGCCAGGAGTCCTAGTCTGTGGGTGAGAGGGGTCCCCTTTGGTCTGTTCAGGCACATTGCTGGTCTGGAGTGAGCCTTTCTTTCCCAGTGACCTTTGCCTGTTCCTCTTGGGGTCCTGGAGATTCCTTTTCTGTATGTGATGGGGTTCTGCCTCTGACATCCTAAACCTTCCATTTTTCTCTCTACCTCCCAGATTCCTGATGAGTTCGACAATGGTGAGTAAACAAGCACAGATTCTGGAGTCCCTGACCCTCTCAACTCTGTCATTTGTAAGGATGTCTCTCTCCCCATCTGGTGTCTCCGGCCCCTCCTCCTTCCACTGGGGAGGTGGGGGAGCCAGCAGCTGGATGGCTTTGTGGGGAGGGACATTACAAAGCCCAAGCCCACTTCCCTGGCCCCTCAGCCCCGAGCAGATGGTCAGAGACAGATGGGGGATTGGAGCCTTGGGTGGGAGGGCTTGGGGACACAGGGTGGCCTATCTCCAGACACATGGGTTCCTGTGCCTTAGACCAAGCATCTGCGGTTCCCAACTCCTTCCCCATCCCCCTCGAGCCCCTACCCCATTAGGCTCATTTTCAAAACTATGCCGCCTTCCTCTCTCCCCTTCTGGTTAACCAGCTTTTGGTGGTGAAGTAGATGACAAATTGGATAGTAGAGAGTAGCTGTCAATCCTGTCACACCTGGCTCTTCCTAGGAGAAAAATGAAATTGGTGGGTCCAGAAAGCCACCTGTTTATGCTGGGGGATGTTTGCAAACAGTCATGTTAATACATTGATTGTTTCAAACTGGGCAGTTGTAGAATCATGCTGGCTTCAACAAATCAGTATGCTGATTTAAATTGGGCAGGTACATCTGCAGTTTTAAAGTGTATATGTTTACTAGCCTAACTGGTTTCAATATTGTGGTTTATTTTTATTTTTATTTTTTTTTGAGACATAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGATGCAATTTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCATTTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGCACACCACCACACTCAGCTAATTTTTATAGTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGGTCACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACTCCTGGCCCAATATATTGTGTTTTTTTTAAGAGGCAGGCCCATGTATTGCACTAAAAATACTGTATTAAAGTAGGTAGCCTTGTAAGTTTACTGTTTTATACTGGATTCATTAGCCGGGAGTGGTGGCCTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGAAGTTACAGGCTGCAGTGAGCTGTGATCCCGCCACTGCACTCTAGCCTGGATGACAGAGTGAGTCTCCATCTCTAAAAAAAAATAAGTTAAAATGAGAAAGTAAACTGGAGTCAATATATTCACTTAAACCAGGGTTTTTCACCCTTGGCCCTATTGACGCTTTGGACCAGATAATTATAGAGGACTGCCCTGTGCATTGAAGGATTTTTGCAGCATCCTGGGCATCTGCCTACTAGATGCCAGTATTGCGATAACCGGTTATATCTCCCGGCATTGCCAGATTTCCCAGGGGTAGGCAGATAGACAAAATTGTTCCTAGTTCTGAACCACTGTTTTATGGTATATGGATGTGTTTATATATTTATTGTGGTTTAGATTCAGCACACTGGATTAAAGTGGGCAGATCTGGAAGCCTAGTGATTCAAAGTGGGCAAAATACAGTGGCATAAATTAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCCGGTCAACAGAGCAAGACCCTGTCTCTATTAAAAAAGTATGTATACCCTGGTGTAATGTCAGC
CGTGGCGTCAGCGCAAGATGGCGGCCTCGGCAGCGGTGTTCTCGCGCTTGCGAAGCGGGCTCCGGCTCGGCTCGCGGGGACTGTGCACGAGGTTGGCGACGCCGCCCCGCCGGGCCCCAGATCAGGTGAGCGGAACGAGGGTGGCCCTCTGAATGTGGGGTCCCTTCCCTGGAGTTACGGACATATCGCCGCCCCTTGGGGGTTCCGGGACGCCTCACCTCAGGGTGCTGAATGAAACGCCGCTTGTGTTTTGGGGCCCTTCCCAACCTCCTGGGTGGTTGCTCCCCTAGGCTGGAGGCTGGGAATCCAGGTGTGTCCTTAGACCCCACCTCCCACCCACGTGGGTGCCGGAGGAGGAGGGGGTTACCGTTCCCCGTTTCAGTGACCACTCAGGTGATACTTGAGCAGGAGGGGCCTGGGACGCTGGAGTCCCAGTCTGGCCGTGGGAGTTATTTTCTCTGTGGCGTTGGTGGTGGCGAGGTAGACGTTTGGGTTTCCAATTCGACTTGCCTCCATGTTGACAGAGACCCAGCCATTCTGACCTCCAAGTCTATCACTTCTGTGCCTTAGTTCCCCAAGCCCCAGACAAGTGATTGCCCTTCCCCGCCTCCGCTCCTATCCCTTACCCTATAACTCTGCTACTTTTAGCCCCAAGCAGCCGGACGTCGTAACTCCCGGTTCTGTCTGTACCCCTTCCCCCACCACTTGTGCCCTCCGTTCCCTCTCATCCCAGTGTTTAGGCCCTCCCATCCCTTATTCTCCGTGCTTTGCTTTTCTGGGCTGCAGACCCTCCAGTCCTGTTGCCTTCAGGATCCTGTGCACCTGGCCTGTTAGCTTTTAAAACTCCTGGCATCCTGGTGCGGGACAGTCTGGTTTTGACCCTCTGAGCAGCCCCACATCCTGACTGCTACTCCAGGGACACAGATGTCCAGGGCTCTGTGGGTGTCTGCCTCTTGGCTCCTGAACTTGATTCTTCTTGGACTGGAGGGTGGGGACCATCCTGACCTCTCTTCTCTCTTGGCTGACCTCCCCTTTCTCAACCGCAGGCCGCAGAGATCGGGAGCCGCGGGAGCACTAAGGCGCAAGGGCCACAGCAGCAGCCGGGCTCAGAGGGTCCCAGCTATGCCAAAAAAGTTGCGCTCTGGCTTGCTGGGCTGCTTGGAGCTGGTGGGACTGTGAGCGTCGTCTATATCTTTGGTGAGGGACATATCCCTGTCCCCCAGTTTTGTTCCTTGGCCTCCCTGGTCCACTGTGGAACCTCCCACTCTTGCCCACTACCAGCTTCTCTCGTCTTCATTCCCTGGCTCCTTCCTCAATAGGGCAGCCAAATAAGACACCTACCTTGAAAACCAGGGAAGTCTTCTTTCTTCTCCCTTCCACTCCTTAAGGTTCTAGTCTTTCTAGTTGGTTCCTGTACCAGGATAAAGGAAAGAGGGGAAGATGGGGAAGGATAGGCCTGGATCAGCTTCCTAAACTTTGTCTTTCCTCAGCAGCCAAAAATCCAGCCTTCCCACTAGTTACTTTAAATCCCACAGACCCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGACGGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCCGGTGTGGTGGCGGGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAATCCCACAGACCCAAAAGACCTAGCCCCAGCCCCATTTCTCTCAAAGACCCAGGAATCTTGGCTCCCAGCCCCCTCCTGGCTTGACTCCAGGAGGCTGTGCCTCTCTCTTTCCTCAGATCCAGGAGTCCAGGCCCCTTATCCCACTCCTCCCTCGGGACCCAGGGGACTGGGCCCTAATTCCTCATATTCATCCTGGTCTCCCTTGCAGCAAACAACCCGGTGGACGAAAATGGTGCCAAGGTGAGGGGGAAAGAGACCGAGGCCTTGCCAGGAGTCCTAGTCTGTGGGTGAGAGGGGTCCCCTTTGGTCTGTTCAGGCACATTGCTGGTCTGGAGTGAGCCTTTCTTTCCCAGTGACCTTTGCCTGTTCCTCTTGGGGTCCTGGAGATTCCTTTTCTGTATGTGATGGGGTTCTGCCTCTGACATCCTAAACCTTCCATTTTTCTCTCTACCTCCCAGATTCCTGATGAGTTCGACAATGGTGAGTAAACAAGCACAGATTCTGGAGTCCCTGACCCTCTCAACTCTGTCATTTGTAAGGATGTCTCTCTCCCCATCTGGTGTCTCCGGCCCCTCCTCCTTCCACTGGGGAGGTGGGGGAGCCAGCAGCTGGATGGCTTTGTGGGGAGGGACATTACAAAGCCCAAGCCCACTTCCCTGGCCCCTCAGCCCCGAGCAGATGGTCAGAGACAGATGGGGGATTGGAGCCTTGGGTGGGAGGGCTTGGGGACACAGGGTGGCCTATCTCCAGACACATGGGTTCCTGTGCCTTAGACCAAGCATCTGCGGTTCCCAACTCCTTCCCCATCCCCCTCGAGCCCCTACCCCATTAGGCTCATTTTCAAAACTATGCCGCCTTCCTCTCTCCCCTTCTGGTTAACCAGCTTTTGGTGGTGAAGTAGATGACAAATTGGATAGTAGAGAGTAGCTGTCAATCCTGTCACACCTGGCTCTTCCTAGGAGAAAAATGAAATTGGTGGGTCCAGAAAGCCACCTGTTTATGCTGGGGGATGTTTGCAAACAGTCATGTTAATACATTGATTGTTTCAAACTGGGCAGTTGTAGAATCATGCTGGCTTCAACAAATCAGTATGCTGATTTAAATTGGGCAGGTACATCTGCAGTTTTAAAGTGTATATGTTTACTAGCCTAACTGGTTTCAATATTGTGGTTTATTTTTATTTTTATTTTTTTTTGAGACATAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGATGCAATTTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCATTTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGCACACCACCACACTCAGCTAATTTTTATAGTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGGTCACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACTCCTGGCCCAATATATTGTGTTTTTTTTAAGAGGCAGGCCCATGTATTGCACTAAAAATACTGTATTAAAGTAGGTAGCCTTGTAAGTTTACTGTTTTATACTGGATTCATTAGCCGGGAGTGGTGGCCTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGAAGTTACAGGCTGCAGTGAGCTGTGATCCCGCCACTGCACTCTAGCCTGGATGACAGAGTGAGTCTCCATCTCTAAAAAAAAATAAGTTAAAATGAGAAAGTAAACTGGAGTCAATATATTCACTTAAACCAGGGTTTTTCACCCTTGGCCCTATTGACGCTTTGGACCAGATAATTATAGAGGACTGCCCTGTGCATTGAAGGATTTTTGCAGCATCCTGGGCATCTGCCTACTAGATGCCAGTATTGCGATAACCGGTTATATCTCCCGGCATTGCCAGATTTCCCAGGGGTAGGCAGATAGACAAAATTGTTCCTAGTTCTGAACCACTGTTTTATGGTATATGGATGTGTTTATATATTTATTGTGGTTTAGATTCAGCACACTGGATTAAAGTGGGCAGATCTGGAAGCCTAGTGATTCAAAGTGGGCAAAATACAGTGGCATAAATTAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCCGGTCAACAGAGCAAGACCCTGTCTCTATTAAAAAAGTATGTATACCCTGGTGTAATGTCAGC
Task1_train_27141
This genomic variant is located on Chromosome 19, within the TIMM50 (translocase of inner mitochondrial membrane 50) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; not provided
TTGATTGTTTCAAACTGGGCAGTTGTAGAATCATGCTGGCTTCAACAAATCAGTATGCTGATTTAAATTGGGCAGGTACATCTGCAGTTTTAAAGTGTATATGTTTACTAGCCTAACTGGTTTCAATATTGTGGTTTATTTTTATTTTTATTTTTTTTTGAGACATAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGATGCAATTTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCATTTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGCACACCACCACACTCAGCTAATTTTTATAGTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGGTCACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACTCCTGGCCCAATATATTGTGTTTTTTTTAAGAGGCAGGCCCATGTATTGCACTAAAAATACTGTATTAAAGTAGGTAGCCTTGTAAGTTTACTGTTTTATACTGGATTCATTAGCCGGGAGTGGTGGCCTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGAAGTTACAGGCTGCAGTGAGCTGTGATCCCGCCACTGCACTCTAGCCTGGATGACAGAGTGAGTCTCCATCTCTAAAAAAAAATAAGTTAAAATGAGAAAGTAAACTGGAGTCAATATATTCACTTAAACCAGGGTTTTTCACCCTTGGCCCTATTGACGCTTTGGACCAGATAATTATAGAGGACTGCCCTGTGCATTGAAGGATTTTTGCAGCATCCTGGGCATCTGCCTACTAGATGCCAGTATTGCGATAACCGGTTATATCTCCCGGCATTGCCAGATTTCCCAGGGGTAGGCAGATAGACAAAATTGTTCCTAGTTCTGAACCACTGTTTTATGGTATATGGATGTGTTTATATATTTATTGTGGTTTAGATTCAGCACACTGGATTAAAGTGGGCAGATCTGGAAGCCTAGTGATTCAAAGTGGGCAAAATACAGTGGCATAAATTAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCCGGTCAACAGAGCAAGACCCTGTCTCTATTAAAAAAGTATGTATACCCTGGTGTAATGTCAGCAGATTTACATGTATGTGGGTTTTGTTTTGTTTTTTTTTTTTCTGAGACGGAGTCTTACTCTGTTGCCACGCTGGAGTGCAGTGGTGCAATCTCGGCTCGCTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAGGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTTTTTTTTTTTACTGTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGATGGTCTTGATCTGACCTCGTGATCCGTCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTTGTATGTGGGTTTTAAGTGGGCCAATGTAATAAGCATTCTGTTTCATACCTGGGGTAGTATGTGGATATAAGTATCAGCTTAAAATAGGGCAAGTAAATAAATCTGTGTTCCTATCTGGCGGTATGTCATTGCCTTCTATCTTTGGACCTAGAAATGAGTTGGTTCAAACCAGGCAGATATGCAGACCTGTTTGTATCTGGTAGATAAGAAACCCCTGGTTTGTCTGGGAGGTTGAACAGCGGCTTATTGTGGAATCTCTTTGTGCCTGGTGTTCTCCTAGATCCAATTCTGGTACAGCAGTTGCGCCGGACATACAAATATTTCAAAGATTATAGACAGGTGAGCAGAAGCCCTGGGCTCAGTCCCCATGTCTCCAGCCCTGGCCTCCTTGTCTGAGCGCCCCCATCCTGTCCCTCTCCCACAGATGATCATCGAGCCCACCAGCCCTTGCCTTCTCCCAGACCCTCTGCAGGAACCGTACTACCAGCCACCCTACACGCTCGTTTTGGAGCTCACCGGCGTCCTCTTGCATCCTGAGTGGTCGGTGTGTCCCGGGAAACCCAGTGGGTTGGGGATAGACCTGGGCAGTGGGGTTGTGATGAGGTGGACTTTCAGCCCTGGCTGTGCTATGTGATCTTGGGGAGGAGATGTCACCTGTCATTGCCTCGCTTTCTTCAGCTGGGAGAAGGCAGTCATGCTAACACCCACTCTGTAGGGTAGTGTAGGTGTGCCCAGGCACGCTATAAGTGCCACAAAGGAGCCAGACCCGCAGTCACAGCCTATGAACTTCTTGACCTCCAAGAGCCACAGAGACAGAGGGAGAGAACTCTGTTCTGGGAATCCCCCAGGCTGGATCTTTGTCCTCTTGGGGACTCTGAGGACCTCTGGGTCTTGGTGTTTCACTGTCCTCACTGTCTTCCCAGCTGGCCACTGGCTGGAGGTTTAAGAAGCGCCCAGGCATCGAGACCTTGTTCCAGCAGCTTGCCCCTTTATATGAAATTGTCATCTTTACGTCAGAGACTGGCATGGTGAGGCTCTGGGGCAGGGGAGGGAATATTGGTGTGGTGGGAGGCGTAGAGATCTGGAGGACCAGGGCTCAGCCTGACCTTTTCTCGCTCCCTTCCCACCCCCAGACTGCGTTTCCACTCATTGATAGTGTGGACCCCCATGGCTTCATCTCCTACCGCCTATTCCGGGACGCCACAAGATACATGGATGGACACCATGTAAAGGTGCCGTGGGTTCATGGGTGGGCCTCTGGGATTTGGCGGAGTTGGCACCACCTGAGGGAAGGAGGGCCCAGCTCTGACCCTAGCCTCACCTGGCTTATGGTTCTGCCCAGATTCGATTCCTGCTGGCAGGCACATGCCTGCCTCTAGCCTTGGCCAGACATCTGCACCCTTCTTTGTTCCCTGGAATCTGGGTGTGGGAGTGGGGGGAAATGGGGTCTCTCTAAAGAAGACAGTTGGGGGTTAGTGGTAAGGTCGTACGATTTAGAAGCTGGTTTTATCTTGCTGTGTCTGTAACTTAGTGTTTCTGGGAAGGTTTGCTTATAGTTGTACATATGAGACTGGTTGGGGTTTGTTTGACCCGGGCTCTGTTACTGTGGCCAGTGCTGTATTCAGGAGTCCGGATCTGCGAATGGGCCTCTGTGGGTCTGGCTCCAAGTGTCTGTGTGTCTGTTGGTTTCTGTCTGTGTCGTGTCGGGGTGGGGGTTCTGTGTTGCTCTTGGAAATTCCAAAATACGTGGGCTGTGATCGAGGGTCTTGAAGGGTCTGTGTCTGGGTGCCTGTCTGTGTGGTTCCCTGGGTGTGGCTGCAGATCTGTCTGCACCTGTTTACTTGAGTGAGAGGTTCTTAAACCTGCAACATACCACAGTCACCTGGGCAGGGGTTAAACACGAGAGTGGCCACCTCCCTCTCCAGGGAACTTCCTAATCACCTCTCTGTGTGCTAGGCCCTGGGTCTAGAAGTCTATGTGATTAGCTCCCCAATATCCTGGGGGTTGTTTTGTTTTTTGTTTCTGAGACAGGGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATGAACATGGCTCACTGCAGTCTCAACCTTCTGGGCTCAAGCGATCTTCCCACCTCAGCCTCCTGAGTAGCTGGGCCTATAGGCACACACCACCATGCCTGGCTAATTTTTATTTTTATTTTTATTTATTTATTTTTTTTGTGAGACGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACCTCCCCCTCCCAGGTTCAAGCGATTCTCTTTCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACACACCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGCTGGTTTTGAACTCCTGAGCTCAGGCAATCTGCCCACCTTGGCCTCCCAAAATTCTGGGAGTACGGTCGTGAGCCACCGCACCCGGCCATTTTTTGTATTTAGTAGATACGGGGTTTCACCATTTTAGCCAGGCTGGT
TTGATTGTTTCAAACTGGGCAGTTGTAGAATCATGCTGGCTTCAACAAATCAGTATGCTGATTTAAATTGGGCAGGTACATCTGCAGTTTTAAAGTGTATATGTTTACTAGCCTAACTGGTTTCAATATTGTGGTTTATTTTTATTTTTATTTTTTTTTGAGACATAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGATGCAATTTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCATTTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGCACACCACCACACTCAGCTAATTTTTATAGTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGGTCACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACTCCTGGCCCAATATATTGTGTTTTTTTTAAGAGGCAGGCCCATGTATTGCACTAAAAATACTGTATTAAAGTAGGTAGCCTTGTAAGTTTACTGTTTTATACTGGATTCATTAGCCGGGAGTGGTGGCCTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGAAGTTACAGGCTGCAGTGAGCTGTGATCCCGCCACTGCACTCTAGCCTGGATGACAGAGTGAGTCTCCATCTCTAAAAAAAAATAAGTTAAAATGAGAAAGTAAACTGGAGTCAATATATTCACTTAAACCAGGGTTTTTCACCCTTGGCCCTATTGACGCTTTGGACCAGATAATTATAGAGGACTGCCCTGTGCATTGAAGGATTTTTGCAGCATCCTGGGCATCTGCCTACTAGATGCCAGTATTGCGATAACCGGTTATATCTCCCGGCATTGCCAGATTTCCCAGGGGTAGGCAGATAGACAAAATTGTTCCTAGTTCTGAACCACTGTTTTATGGTATATGGATGTGTTTATATATTTATTGTGGTTTAGATTCAGCACACTGGATTAAAGTGGGCAGATCTGGAAGCCTAGTGATTCAAAGTGGGCAAAATACAGTGGCATAAATTAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCCGGTCAACAGAGCAAGACCCTGTCTCTATTAAAAAAGTATGTATACCCTGGTGTAATGTCAGCAGATTTACATGTATGTGGGTTTTGTTTTGTTTTTTTTTTTTCTGAGACGGAGTCTTACTCTGTTGCCACGCTGGAGTGCAGTGGTGCAATCTCGGCTCGCTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAGGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTTTTTTTTTTTACTGTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGATGGTCTTGATCTGACCTCGTGATCCGTCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTTGTATGTGGGTTTTAAGTGGGCCAATGTAATAAGCATTCTGTTTCATACCTGGGGTAGTATGTGGATATAAGTATCAGCTTAAAATAGGGCAAGTAAATAAATCTGTGTTCCTATCTGGCGGTATGTCATTGCCTTCTATCTTTGGACCTAGAAATGAGTTGGTTCAAACCAGGCAGATATGCAGACCTGTTTGTATCTGGTAGATAAGAAACCCCTGGTTTGTCTGGGAGGTTGAACAGCGGCTTATTGTGGAATCTCTTTGTGCCTGGTGTTCTCCTAGATCCAATTCTGGTACAGCAGTTGCGCCGGACATACAAATATTTCAAAGATTATAGACAGGTGAGCAGAAGCCCTGGGCTCAGTCCCCATGTCTCCAGCCCTGGCCTCCTTGTCTGAGCGCCCCCATCCTGTCCCTCTCCCACAGATGATCATCGAGCCCACCAGCCCTTGCCTTCTCCCAGACCCTCTGCAGGAACCGTACTACCAGCCACCCTACATGCTCGTTTTGGAGCTCACCGGCGTCCTCTTGCATCCTGAGTGGTCGGTGTGTCCCGGGAAACCCAGTGGGTTGGGGATAGACCTGGGCAGTGGGGTTGTGATGAGGTGGACTTTCAGCCCTGGCTGTGCTATGTGATCTTGGGGAGGAGATGTCACCTGTCATTGCCTCGCTTTCTTCAGCTGGGAGAAGGCAGTCATGCTAACACCCACTCTGTAGGGTAGTGTAGGTGTGCCCAGGCACGCTATAAGTGCCACAAAGGAGCCAGACCCGCAGTCACAGCCTATGAACTTCTTGACCTCCAAGAGCCACAGAGACAGAGGGAGAGAACTCTGTTCTGGGAATCCCCCAGGCTGGATCTTTGTCCTCTTGGGGACTCTGAGGACCTCTGGGTCTTGGTGTTTCACTGTCCTCACTGTCTTCCCAGCTGGCCACTGGCTGGAGGTTTAAGAAGCGCCCAGGCATCGAGACCTTGTTCCAGCAGCTTGCCCCTTTATATGAAATTGTCATCTTTACGTCAGAGACTGGCATGGTGAGGCTCTGGGGCAGGGGAGGGAATATTGGTGTGGTGGGAGGCGTAGAGATCTGGAGGACCAGGGCTCAGCCTGACCTTTTCTCGCTCCCTTCCCACCCCCAGACTGCGTTTCCACTCATTGATAGTGTGGACCCCCATGGCTTCATCTCCTACCGCCTATTCCGGGACGCCACAAGATACATGGATGGACACCATGTAAAGGTGCCGTGGGTTCATGGGTGGGCCTCTGGGATTTGGCGGAGTTGGCACCACCTGAGGGAAGGAGGGCCCAGCTCTGACCCTAGCCTCACCTGGCTTATGGTTCTGCCCAGATTCGATTCCTGCTGGCAGGCACATGCCTGCCTCTAGCCTTGGCCAGACATCTGCACCCTTCTTTGTTCCCTGGAATCTGGGTGTGGGAGTGGGGGGAAATGGGGTCTCTCTAAAGAAGACAGTTGGGGGTTAGTGGTAAGGTCGTACGATTTAGAAGCTGGTTTTATCTTGCTGTGTCTGTAACTTAGTGTTTCTGGGAAGGTTTGCTTATAGTTGTACATATGAGACTGGTTGGGGTTTGTTTGACCCGGGCTCTGTTACTGTGGCCAGTGCTGTATTCAGGAGTCCGGATCTGCGAATGGGCCTCTGTGGGTCTGGCTCCAAGTGTCTGTGTGTCTGTTGGTTTCTGTCTGTGTCGTGTCGGGGTGGGGGTTCTGTGTTGCTCTTGGAAATTCCAAAATACGTGGGCTGTGATCGAGGGTCTTGAAGGGTCTGTGTCTGGGTGCCTGTCTGTGTGGTTCCCTGGGTGTGGCTGCAGATCTGTCTGCACCTGTTTACTTGAGTGAGAGGTTCTTAAACCTGCAACATACCACAGTCACCTGGGCAGGGGTTAAACACGAGAGTGGCCACCTCCCTCTCCAGGGAACTTCCTAATCACCTCTCTGTGTGCTAGGCCCTGGGTCTAGAAGTCTATGTGATTAGCTCCCCAATATCCTGGGGGTTGTTTTGTTTTTTGTTTCTGAGACAGGGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATGAACATGGCTCACTGCAGTCTCAACCTTCTGGGCTCAAGCGATCTTCCCACCTCAGCCTCCTGAGTAGCTGGGCCTATAGGCACACACCACCATGCCTGGCTAATTTTTATTTTTATTTTTATTTATTTATTTTTTTTGTGAGACGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACCTCCCCCTCCCAGGTTCAAGCGATTCTCTTTCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACACACCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGCTGGTTTTGAACTCCTGAGCTCAGGCAATCTGCCCACCTTGGCCTCCCAAAATTCTGGGAGTACGGTCGTGAGCCACCGCACCCGGCCATTTTTTGTATTTAGTAGATACGGGGTTTCACCATTTTAGCCAGGCTGGT
Task1_train_27142
The gene TIMM50 (translocase of inner mitochondrial membrane 50) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; 3-methylglutaconic aciduria type 9
AAGTTAAAATGAGAAAGTAAACTGGAGTCAATATATTCACTTAAACCAGGGTTTTTCACCCTTGGCCCTATTGACGCTTTGGACCAGATAATTATAGAGGACTGCCCTGTGCATTGAAGGATTTTTGCAGCATCCTGGGCATCTGCCTACTAGATGCCAGTATTGCGATAACCGGTTATATCTCCCGGCATTGCCAGATTTCCCAGGGGTAGGCAGATAGACAAAATTGTTCCTAGTTCTGAACCACTGTTTTATGGTATATGGATGTGTTTATATATTTATTGTGGTTTAGATTCAGCACACTGGATTAAAGTGGGCAGATCTGGAAGCCTAGTGATTCAAAGTGGGCAAAATACAGTGGCATAAATTAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCCGGTCAACAGAGCAAGACCCTGTCTCTATTAAAAAAGTATGTATACCCTGGTGTAATGTCAGCAGATTTACATGTATGTGGGTTTTGTTTTGTTTTTTTTTTTTCTGAGACGGAGTCTTACTCTGTTGCCACGCTGGAGTGCAGTGGTGCAATCTCGGCTCGCTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAGGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTTTTTTTTTTTACTGTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGATGGTCTTGATCTGACCTCGTGATCCGTCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTTGTATGTGGGTTTTAAGTGGGCCAATGTAATAAGCATTCTGTTTCATACCTGGGGTAGTATGTGGATATAAGTATCAGCTTAAAATAGGGCAAGTAAATAAATCTGTGTTCCTATCTGGCGGTATGTCATTGCCTTCTATCTTTGGACCTAGAAATGAGTTGGTTCAAACCAGGCAGATATGCAGACCTGTTTGTATCTGGTAGATAAGAAACCCCTGGTTTGTCTGGGAGGTTGAACAGCGGCTTATTGTGGAATCTCTTTGTGCCTGGTGTTCTCCTAGATCCAATTCTGGTACAGCAGTTGCGCCGGACATACAAATATTTCAAAGATTATAGACAGGTGAGCAGAAGCCCTGGGCTCAGTCCCCATGTCTCCAGCCCTGGCCTCCTTGTCTGAGCGCCCCCATCCTGTCCCTCTCCCACAGATGATCATCGAGCCCACCAGCCCTTGCCTTCTCCCAGACCCTCTGCAGGAACCGTACTACCAGCCACCCTACACGCTCGTTTTGGAGCTCACCGGCGTCCTCTTGCATCCTGAGTGGTCGGTGTGTCCCGGGAAACCCAGTGGGTTGGGGATAGACCTGGGCAGTGGGGTTGTGATGAGGTGGACTTTCAGCCCTGGCTGTGCTATGTGATCTTGGGGAGGAGATGTCACCTGTCATTGCCTCGCTTTCTTCAGCTGGGAGAAGGCAGTCATGCTAACACCCACTCTGTAGGGTAGTGTAGGTGTGCCCAGGCACGCTATAAGTGCCACAAAGGAGCCAGACCCGCAGTCACAGCCTATGAACTTCTTGACCTCCAAGAGCCACAGAGACAGAGGGAGAGAACTCTGTTCTGGGAATCCCCCAGGCTGGATCTTTGTCCTCTTGGGGACTCTGAGGACCTCTGGGTCTTGGTGTTTCACTGTCCTCACTGTCTTCCCAGCTGGCCACTGGCTGGAGGTTTAAGAAGCGCCCAGGCATCGAGACCTTGTTCCAGCAGCTTGCCCCTTTATATGAAATTGTCATCTTTACGTCAGAGACTGGCATGGTGAGGCTCTGGGGCAGGGGAGGGAATATTGGTGTGGTGGGAGGCGTAGAGATCTGGAGGACCAGGGCTCAGCCTGACCTTTTCTCGCTCCCTTCCCACCCCCAGACTGCGTTTCCACTCATTGATAGTGTGGACCCCCATGGCTTCATCTCCTACCGCCTATTCCGGGACGCCACAAGATACATGGATGGACACCATGTAAAGGTGCCGTGGGTTCATGGGTGGGCCTCTGGGATTTGGCGGAGTTGGCACCACCTGAGGGAAGGAGGGCCCAGCTCTGACCCTAGCCTCACCTGGCTTATGGTTCTGCCCAGATTCGATTCCTGCTGGCAGGCACATGCCTGCCTCTAGCCTTGGCCAGACATCTGCACCCTTCTTTGTTCCCTGGAATCTGGGTGTGGGAGTGGGGGGAAATGGGGTCTCTCTAAAGAAGACAGTTGGGGGTTAGTGGTAAGGTCGTACGATTTAGAAGCTGGTTTTATCTTGCTGTGTCTGTAACTTAGTGTTTCTGGGAAGGTTTGCTTATAGTTGTACATATGAGACTGGTTGGGGTTTGTTTGACCCGGGCTCTGTTACTGTGGCCAGTGCTGTATTCAGGAGTCCGGATCTGCGAATGGGCCTCTGTGGGTCTGGCTCCAAGTGTCTGTGTGTCTGTTGGTTTCTGTCTGTGTCGTGTCGGGGTGGGGGTTCTGTGTTGCTCTTGGAAATTCCAAAATACGTGGGCTGTGATCGAGGGTCTTGAAGGGTCTGTGTCTGGGTGCCTGTCTGTGTGGTTCCCTGGGTGTGGCTGCAGATCTGTCTGCACCTGTTTACTTGAGTGAGAGGTTCTTAAACCTGCAACATACCACAGTCACCTGGGCAGGGGTTAAACACGAGAGTGGCCACCTCCCTCTCCAGGGAACTTCCTAATCACCTCTCTGTGTGCTAGGCCCTGGGTCTAGAAGTCTATGTGATTAGCTCCCCAATATCCTGGGGGTTGTTTTGTTTTTTGTTTCTGAGACAGGGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATGAACATGGCTCACTGCAGTCTCAACCTTCTGGGCTCAAGCGATCTTCCCACCTCAGCCTCCTGAGTAGCTGGGCCTATAGGCACACACCACCATGCCTGGCTAATTTTTATTTTTATTTTTATTTATTTATTTTTTTTGTGAGACGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACCTCCCCCTCCCAGGTTCAAGCGATTCTCTTTCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACACACCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGCTGGTTTTGAACTCCTGAGCTCAGGCAATCTGCCCACCTTGGCCTCCCAAAATTCTGGGAGTACGGTCGTGAGCCACCGCACCCGGCCATTTTTTGTATTTAGTAGATACGGGGTTTCACCATTTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTCTGTGGGGGTCGATGCCATCATCCAAAGCCGGTCTTTGAGAGGCCCTGCCATTGTGATCCCAGTATGTGTGATGCTGTGTATGTATGTATGTTTTGTGTGTTTTGGGTCTTCTTGATGGGGGGAGAGTTGGGCACAGATGTTGACCTGATCTGTCACTCACTTCCAGGATATTTCATGTCTGAATCGGGACCCAGCTCGAGTAGTAGTTGTGGACTGCAAGAAGGAAGCCTTCCGCCTGCAGCCCTATAACGGCGTTGCCCTGCGGCCCTGGGACGGCAACTCTGATGACCGGGTCTTGTTGGATCTGTCTGCCTTCCTCAAGAGTAAGGCTGACCCCTGATCCCTTGGCCTCTGACCCCAGAGCCCCTGACTCTGAAGAGGAAGGATAAATGCATGATTCATGGCTGGGCGACTGAGGTGCAAGAGGTGCCTGAGCACCTTGGAGTCTTTAGGAGCTTCTTAGGATGTTCATGGAATGTTTGGGGGATACTTGGGGATGTTCAGGGGAGCCCTTTCAGAGCGTTCAGAAGCATTCCAGGTAGCACTGACTGCCCCCGTGCCCCAGTGCGGGACGTTCCCCTCATGGGCCCTGCCTCCCTCTGGCCTTTAGAAGCCT
AAGTTAAAATGAGAAAGTAAACTGGAGTCAATATATTCACTTAAACCAGGGTTTTTCACCCTTGGCCCTATTGACGCTTTGGACCAGATAATTATAGAGGACTGCCCTGTGCATTGAAGGATTTTTGCAGCATCCTGGGCATCTGCCTACTAGATGCCAGTATTGCGATAACCGGTTATATCTCCCGGCATTGCCAGATTTCCCAGGGGTAGGCAGATAGACAAAATTGTTCCTAGTTCTGAACCACTGTTTTATGGTATATGGATGTGTTTATATATTTATTGTGGTTTAGATTCAGCACACTGGATTAAAGTGGGCAGATCTGGAAGCCTAGTGATTCAAAGTGGGCAAAATACAGTGGCATAAATTAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCCGGTCAACAGAGCAAGACCCTGTCTCTATTAAAAAAGTATGTATACCCTGGTGTAATGTCAGCAGATTTACATGTATGTGGGTTTTGTTTTGTTTTTTTTTTTTCTGAGACGGAGTCTTACTCTGTTGCCACGCTGGAGTGCAGTGGTGCAATCTCGGCTCGCTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAGGTAGCTGGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTTTTTTTTTTTACTGTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGATGGTCTTGATCTGACCTCGTGATCCGTCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTTGTATGTGGGTTTTAAGTGGGCCAATGTAATAAGCATTCTGTTTCATACCTGGGGTAGTATGTGGATATAAGTATCAGCTTAAAATAGGGCAAGTAAATAAATCTGTGTTCCTATCTGGCGGTATGTCATTGCCTTCTATCTTTGGACCTAGAAATGAGTTGGTTCAAACCAGGCAGATATGCAGACCTGTTTGTATCTGGTAGATAAGAAACCCCTGGTTTGTCTGGGAGGTTGAACAGCGGCTTATTGTGGAATCTCTTTGTGCCTGGTGTTCTCCTAGATCCAATTCTGGTACAGCAGTTGCGCCGGACATACAAATATTTCAAAGATTATAGACAGGTGAGCAGAAGCCCTGGGCTCAGTCCCCATGTCTCCAGCCCTGGCCTCCTTGTCTGAGCGCCCCCATCCTGTCCCTCTCCCACAGATGATCATCGAGCCCACCAGCCCTTGCCTTCTCCCAGACCCTCTGCAGGAACCGTACTACCAGCCACCCTACACGCTCGTTTTGGAGCTCACCGGCGTCCTCTTGCATCCTGAGTGGTCGGTGTGTCCCGGGAAACCCAGTGGGTTGGGGATAGACCTGGGCAGTGGGGTTGTGATGAGGTGGACTTTCAGCCCTGGCTGTGCTATGTGATCTTGGGGAGGAGATGTCACCTGTCATTGCCTCGCTTTCTTCAGCTGGGAGAAGGCAGTCATGCTAACACCCACTCTGTAGGGTAGTGTAGGTGTGCCCAGGCACGCTATAAGTGCCACAAAGGAGCCAGACCCGCAGTCACAGCCTATGAACTTCTTGACCTCCAAGAGCCACAGAGACAGAGGGAGAGAACTCTGTTCTGGGAATCCCCCAGGCTGGATCTTTGTCCTCTTGGGGACTCTGAGGACCTCTGGGTCTTGGTGTTTCACTGTCCTCACTGTCTTCCCAGCTGGCCACTGGCTGGAGGTTTAAGAAGCGCCCAGGCATCGAGACCTTGTTCCAGCAGCTTGCCCCTTTATATGAAATTGTCATCTTTACGTCAGAGACTGGCATGGTGAGGCTCTGGGGCAGGGGAGGGAATATTGGTGTGGTGGGAGGCGTAGAGATCTGGAGGACCAGGGCTCAGCCTGACCTTTTCTCGCTCCCTTCCCACCCCCAGACTGCGTTTCCACTCATTGATAGTGTGGACCCCCATGGCTTCATCTCCTACCGCCTATTCCGGGACACCACAAGATACATGGATGGACACCATGTAAAGGTGCCGTGGGTTCATGGGTGGGCCTCTGGGATTTGGCGGAGTTGGCACCACCTGAGGGAAGGAGGGCCCAGCTCTGACCCTAGCCTCACCTGGCTTATGGTTCTGCCCAGATTCGATTCCTGCTGGCAGGCACATGCCTGCCTCTAGCCTTGGCCAGACATCTGCACCCTTCTTTGTTCCCTGGAATCTGGGTGTGGGAGTGGGGGGAAATGGGGTCTCTCTAAAGAAGACAGTTGGGGGTTAGTGGTAAGGTCGTACGATTTAGAAGCTGGTTTTATCTTGCTGTGTCTGTAACTTAGTGTTTCTGGGAAGGTTTGCTTATAGTTGTACATATGAGACTGGTTGGGGTTTGTTTGACCCGGGCTCTGTTACTGTGGCCAGTGCTGTATTCAGGAGTCCGGATCTGCGAATGGGCCTCTGTGGGTCTGGCTCCAAGTGTCTGTGTGTCTGTTGGTTTCTGTCTGTGTCGTGTCGGGGTGGGGGTTCTGTGTTGCTCTTGGAAATTCCAAAATACGTGGGCTGTGATCGAGGGTCTTGAAGGGTCTGTGTCTGGGTGCCTGTCTGTGTGGTTCCCTGGGTGTGGCTGCAGATCTGTCTGCACCTGTTTACTTGAGTGAGAGGTTCTTAAACCTGCAACATACCACAGTCACCTGGGCAGGGGTTAAACACGAGAGTGGCCACCTCCCTCTCCAGGGAACTTCCTAATCACCTCTCTGTGTGCTAGGCCCTGGGTCTAGAAGTCTATGTGATTAGCTCCCCAATATCCTGGGGGTTGTTTTGTTTTTTGTTTCTGAGACAGGGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATGAACATGGCTCACTGCAGTCTCAACCTTCTGGGCTCAAGCGATCTTCCCACCTCAGCCTCCTGAGTAGCTGGGCCTATAGGCACACACCACCATGCCTGGCTAATTTTTATTTTTATTTTTATTTATTTATTTTTTTTGTGAGACGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACCTCCCCCTCCCAGGTTCAAGCGATTCTCTTTCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACACACCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGCTGGTTTTGAACTCCTGAGCTCAGGCAATCTGCCCACCTTGGCCTCCCAAAATTCTGGGAGTACGGTCGTGAGCCACCGCACCCGGCCATTTTTTGTATTTAGTAGATACGGGGTTTCACCATTTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTCTGTGGGGGTCGATGCCATCATCCAAAGCCGGTCTTTGAGAGGCCCTGCCATTGTGATCCCAGTATGTGTGATGCTGTGTATGTATGTATGTTTTGTGTGTTTTGGGTCTTCTTGATGGGGGGAGAGTTGGGCACAGATGTTGACCTGATCTGTCACTCACTTCCAGGATATTTCATGTCTGAATCGGGACCCAGCTCGAGTAGTAGTTGTGGACTGCAAGAAGGAAGCCTTCCGCCTGCAGCCCTATAACGGCGTTGCCCTGCGGCCCTGGGACGGCAACTCTGATGACCGGGTCTTGTTGGATCTGTCTGCCTTCCTCAAGAGTAAGGCTGACCCCTGATCCCTTGGCCTCTGACCCCAGAGCCCCTGACTCTGAAGAGGAAGGATAAATGCATGATTCATGGCTGGGCGACTGAGGTGCAAGAGGTGCCTGAGCACCTTGGAGTCTTTAGGAGCTTCTTAGGATGTTCATGGAATGTTTGGGGGATACTTGGGGATGTTCAGGGGAGCCCTTTCAGAGCGTTCAGAAGCATTCCAGGTAGCACTGACTGCCCCCGTGCCCCAGTGCGGGACGTTCCCCTCATGGGCCCTGCCTCCCTCTGGCCTTTAGAAGCCT
Task1_train_27143
This sequence change occurs on Chromosome 19, altering TIMM50 (translocase of inner mitochondrial membrane 50). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Inborn genetic diseases
TTGTCCTCTTGGGGACTCTGAGGACCTCTGGGTCTTGGTGTTTCACTGTCCTCACTGTCTTCCCAGCTGGCCACTGGCTGGAGGTTTAAGAAGCGCCCAGGCATCGAGACCTTGTTCCAGCAGCTTGCCCCTTTATATGAAATTGTCATCTTTACGTCAGAGACTGGCATGGTGAGGCTCTGGGGCAGGGGAGGGAATATTGGTGTGGTGGGAGGCGTAGAGATCTGGAGGACCAGGGCTCAGCCTGACCTTTTCTCGCTCCCTTCCCACCCCCAGACTGCGTTTCCACTCATTGATAGTGTGGACCCCCATGGCTTCATCTCCTACCGCCTATTCCGGGACGCCACAAGATACATGGATGGACACCATGTAAAGGTGCCGTGGGTTCATGGGTGGGCCTCTGGGATTTGGCGGAGTTGGCACCACCTGAGGGAAGGAGGGCCCAGCTCTGACCCTAGCCTCACCTGGCTTATGGTTCTGCCCAGATTCGATTCCTGCTGGCAGGCACATGCCTGCCTCTAGCCTTGGCCAGACATCTGCACCCTTCTTTGTTCCCTGGAATCTGGGTGTGGGAGTGGGGGGAAATGGGGTCTCTCTAAAGAAGACAGTTGGGGGTTAGTGGTAAGGTCGTACGATTTAGAAGCTGGTTTTATCTTGCTGTGTCTGTAACTTAGTGTTTCTGGGAAGGTTTGCTTATAGTTGTACATATGAGACTGGTTGGGGTTTGTTTGACCCGGGCTCTGTTACTGTGGCCAGTGCTGTATTCAGGAGTCCGGATCTGCGAATGGGCCTCTGTGGGTCTGGCTCCAAGTGTCTGTGTGTCTGTTGGTTTCTGTCTGTGTCGTGTCGGGGTGGGGGTTCTGTGTTGCTCTTGGAAATTCCAAAATACGTGGGCTGTGATCGAGGGTCTTGAAGGGTCTGTGTCTGGGTGCCTGTCTGTGTGGTTCCCTGGGTGTGGCTGCAGATCTGTCTGCACCTGTTTACTTGAGTGAGAGGTTCTTAAACCTGCAACATACCACAGTCACCTGGGCAGGGGTTAAACACGAGAGTGGCCACCTCCCTCTCCAGGGAACTTCCTAATCACCTCTCTGTGTGCTAGGCCCTGGGTCTAGAAGTCTATGTGATTAGCTCCCCAATATCCTGGGGGTTGTTTTGTTTTTTGTTTCTGAGACAGGGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATGAACATGGCTCACTGCAGTCTCAACCTTCTGGGCTCAAGCGATCTTCCCACCTCAGCCTCCTGAGTAGCTGGGCCTATAGGCACACACCACCATGCCTGGCTAATTTTTATTTTTATTTTTATTTATTTATTTTTTTTGTGAGACGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACCTCCCCCTCCCAGGTTCAAGCGATTCTCTTTCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACACACCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGCTGGTTTTGAACTCCTGAGCTCAGGCAATCTGCCCACCTTGGCCTCCCAAAATTCTGGGAGTACGGTCGTGAGCCACCGCACCCGGCCATTTTTTGTATTTAGTAGATACGGGGTTTCACCATTTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTCTGTGGGGGTCGATGCCATCATCCAAAGCCGGTCTTTGAGAGGCCCTGCCATTGTGATCCCAGTATGTGTGATGCTGTGTATGTATGTATGTTTTGTGTGTTTTGGGTCTTCTTGATGGGGGGAGAGTTGGGCACAGATGTTGACCTGATCTGTCACTCACTTCCAGGATATTTCATGTCTGAATCGGGACCCAGCTCGAGTAGTAGTTGTGGACTGCAAGAAGGAAGCCTTCCGCCTGCAGCCCTATAACGGCGTTGCCCTGCGGCCCTGGGACGGCAACTCTGATGACCGGGTCTTGTTGGATCTGTCTGCCTTCCTCAAGAGTAAGGCTGACCCCTGATCCCTTGGCCTCTGACCCCAGAGCCCCTGACTCTGAAGAGGAAGGATAAATGCATGATTCATGGCTGGGCGACTGAGGTGCAAGAGGTGCCTGAGCACCTTGGAGTCTTTAGGAGCTTCTTAGGATGTTCATGGAATGTTTGGGGGATACTTGGGGATGTTCAGGGGAGCCCTTTCAGAGCGTTCAGAAGCATTCCAGGTAGCACTGACTGCCCCCGTGCCCCAGTGCGGGACGTTCCCCTCATGGGCCCTGCCTCCCTCTGGCCTTTAGAAGCCTGGCTGACCACCCCCTGTTGTGCCCACAGCCATTGCACTGAATGGTGTGGAGGACGTGCGAACCGTGCTGGAGCACTATGCCCTGGAGGATGACCCGCTGGCGGCTTTCAAACAGCGGCAAAGCCGGCTAGAGCAGGTTGGTGCTCAGATGCCCAGAGTGGAGGATCGGCTCTGAGGCTCCTGAAGGAGGAGCCTGGGGCAGTCCATCTCCACACTCTTGGTTTGGCTGTGTGACCCTGAGCAGATACCTCCTCTCTGCCTCAGTCTCTGTAACCAGGGGGATATAACACAGCCTGTCCTGTAGGGCTGCCAGAATGAGGGGATGCATTGATTCTGCAGCCTGCTCTGAGAACAGGAAACAGGAGAGGATTTGAGATTAGGCTGGGAGAGGGGTTGCCCTTGATGGTCTTGAGTAGGTCTGGGGGCACCTTGTGGAGGTGGATTGTGGGTTTTAGATCAGGCCTGGAAAGAGGCTCCCTGGGCACGTGGCCCAAGGCTGTGGGGAGAGATGTGATAGTCTTGGTGGGACCCTGGTAATTTGGAAGTGGGACTGAGAGTATGGATTGCGTCTGGGTAAGATTCCCAGGGGTCTAGGCTGAGGTTCACCAGATTCTAGGTTAGGTTCCTAGAGTTGGGAGCCCCTGAGTGCCCAGAGAAGTCCCTAGAGATTTGGGCCTGGGGACCCCCCAGGGAACCCCCCACCCCTGCATCCAGAGAGGGGTCATGGGGCTCAGAGGGCCCAGGGGCAGGATGATGCAGTCTGGTGAGGAGGGCCATGGGGTTTGGACCTGGGATCTCACCAGCATTCACCTTGGGGTAACAGGGTCTGCGATAGGATCTCAGGCTCAGGGGAGGGGTCCCTGGGATCTGGGGAAGGAGATTATGACAGTCTGGGGCCTGAGAACCTACTGCAGTTCAGGCCTGAATACCTCGAGTGCCTAGTATTGGAGTCTGTCGTCCCCCAAACATTGAAGCCTAGGCTCCTGCGGCTCAGAGCTGGCTCTTCCTAGTGTCTGGGGTGGGGGGACTGGGGTCTAGGGTCCCTTGTGTCTGGGCTGGGGGCCCCAGGGTTTGGGGAAAGGGGTCTGGACTTGGCAGAAGTCAGAAGGAAAGGTGGTCCCTGGGCTGAGGCCTGGGGACCTGGGCATCTGGGAGGAGGCTCTGTCCACCTTGCGCTGACCCTCTCCTCCAACTGTCCCCCTACCCCAGGAGGAGCAGCAGCGCCTGGCCGAGCTCTCCAAGTCCAACAAGCAGAACCTCTTCCTTGGCTCCCTCACCAGCCGCTTGTGGCCTCGCTCCAAACAGCCCTGAACTCTGGGCCTCCTCAAACTCAGTGCCTGGGTCCAGGGCCCCAGTGCTTCCAGACCAAGACTTGGGCCACCACTTGTCCAATAAAGTACATCCCAGACGCCACACCTGCTGTGTCCCGAGAGTCTCCAGATGGGGGCATCAGGGTGAGGTCCGGGACTCTTGGGTCATCGTCCCACAGTGGCTGATCGGCTGCCAAGCACAGTGGGGGTGCTTTGTTGGATCAGAGCAGATTTTTCACCCTGGTCTCGGAATCTAAAAACCCTCGCTGTGTCTTCCTGTGTGTTGCGTGATCTGTGAAAAATACATCTCCCTCTGACCACAGACTCCTCATCTGTGGAGAAGGGAAGAGAGGATGGCACTTGGCTTTAAAGACAGGTAGCTGCCAGGCTACTGTGG
TTGTCCTCTTGGGGACTCTGAGGACCTCTGGGTCTTGGTGTTTCACTGTCCTCACTGTCTTCCCAGCTGGCCACTGGCTGGAGGTTTAAGAAGCGCCCAGGCATCGAGACCTTGTTCCAGCAGCTTGCCCCTTTATATGAAATTGTCATCTTTACGTCAGAGACTGGCATGGTGAGGCTCTGGGGCAGGGGAGGGAATATTGGTGTGGTGGGAGGCGTAGAGATCTGGAGGACCAGGGCTCAGCCTGACCTTTTCTCGCTCCCTTCCCACCCCCAGACTGCGTTTCCACTCATTGATAGTGTGGACCCCCATGGCTTCATCTCCTACCGCCTATTCCGGGACGCCACAAGATACATGGATGGACACCATGTAAAGGTGCCGTGGGTTCATGGGTGGGCCTCTGGGATTTGGCGGAGTTGGCACCACCTGAGGGAAGGAGGGCCCAGCTCTGACCCTAGCCTCACCTGGCTTATGGTTCTGCCCAGATTCGATTCCTGCTGGCAGGCACATGCCTGCCTCTAGCCTTGGCCAGACATCTGCACCCTTCTTTGTTCCCTGGAATCTGGGTGTGGGAGTGGGGGGAAATGGGGTCTCTCTAAAGAAGACAGTTGGGGGTTAGTGGTAAGGTCGTACGATTTAGAAGCTGGTTTTATCTTGCTGTGTCTGTAACTTAGTGTTTCTGGGAAGGTTTGCTTATAGTTGTACATATGAGACTGGTTGGGGTTTGTTTGACCCGGGCTCTGTTACTGTGGCCAGTGCTGTATTCAGGAGTCCGGATCTGCGAATGGGCCTCTGTGGGTCTGGCTCCAAGTGTCTGTGTGTCTGTTGGTTTCTGTCTGTGTCGTGTCGGGGTGGGGGTTCTGTGTTGCTCTTGGAAATTCCAAAATACGTGGGCTGTGATCGAGGGTCTTGAAGGGTCTGTGTCTGGGTGCCTGTCTGTGTGGTTCCCTGGGTGTGGCTGCAGATCTGTCTGCACCTGTTTACTTGAGTGAGAGGTTCTTAAACCTGCAACATACCACAGTCACCTGGGCAGGGGTTAAACACGAGAGTGGCCACCTCCCTCTCCAGGGAACTTCCTAATCACCTCTCTGTGTGCTAGGCCCTGGGTCTAGAAGTCTATGTGATTAGCTCCCCAATATCCTGGGGGTTGTTTTGTTTTTTGTTTCTGAGACAGGGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATGAACATGGCTCACTGCAGTCTCAACCTTCTGGGCTCAAGCGATCTTCCCACCTCAGCCTCCTGAGTAGCTGGGCCTATAGGCACACACCACCATGCCTGGCTAATTTTTATTTTTATTTTTATTTATTTATTTTTTTTGTGAGACGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACCTCCCCCTCCCAGGTTCAAGCGATTCTCTTTCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACACACCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGCTGGTTTTGAACTCCTGAGCTCAGGCAATCTGCCCACCTTGGCCTCCCAAAATTCTGGGAGTACGGTCGTGAGCCACCGCACCCGGCCATTTTTTGTATTTAGTAGATACGGGGTTTCACCATTTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTCTGTGGGGGTCGATGCCATCATCCAAAGCCGGTCTTTGAGAGGCCCTGCCATTGTGATCCCAGTATGTGTGATGCTGTGTATGTATGTATGTTTTGTGTGTTTTGGGTCTTCTTGATGGGGGGAGAGTTGGGCACAGATGTTGACCTGATCTGTCACTCACTTCCAGGATATTTCATGTCTGAATCGGGACCCAGCTCGAGTAGTAGTTGTGGACTGCAAGAAGGAAGCCTTCCGCCTGCAGCCCTATAACGGCGTTGCCCTGCGGCCCTGGGACAGCAACTCTGATGACCGGGTCTTGTTGGATCTGTCTGCCTTCCTCAAGAGTAAGGCTGACCCCTGATCCCTTGGCCTCTGACCCCAGAGCCCCTGACTCTGAAGAGGAAGGATAAATGCATGATTCATGGCTGGGCGACTGAGGTGCAAGAGGTGCCTGAGCACCTTGGAGTCTTTAGGAGCTTCTTAGGATGTTCATGGAATGTTTGGGGGATACTTGGGGATGTTCAGGGGAGCCCTTTCAGAGCGTTCAGAAGCATTCCAGGTAGCACTGACTGCCCCCGTGCCCCAGTGCGGGACGTTCCCCTCATGGGCCCTGCCTCCCTCTGGCCTTTAGAAGCCTGGCTGACCACCCCCTGTTGTGCCCACAGCCATTGCACTGAATGGTGTGGAGGACGTGCGAACCGTGCTGGAGCACTATGCCCTGGAGGATGACCCGCTGGCGGCTTTCAAACAGCGGCAAAGCCGGCTAGAGCAGGTTGGTGCTCAGATGCCCAGAGTGGAGGATCGGCTCTGAGGCTCCTGAAGGAGGAGCCTGGGGCAGTCCATCTCCACACTCTTGGTTTGGCTGTGTGACCCTGAGCAGATACCTCCTCTCTGCCTCAGTCTCTGTAACCAGGGGGATATAACACAGCCTGTCCTGTAGGGCTGCCAGAATGAGGGGATGCATTGATTCTGCAGCCTGCTCTGAGAACAGGAAACAGGAGAGGATTTGAGATTAGGCTGGGAGAGGGGTTGCCCTTGATGGTCTTGAGTAGGTCTGGGGGCACCTTGTGGAGGTGGATTGTGGGTTTTAGATCAGGCCTGGAAAGAGGCTCCCTGGGCACGTGGCCCAAGGCTGTGGGGAGAGATGTGATAGTCTTGGTGGGACCCTGGTAATTTGGAAGTGGGACTGAGAGTATGGATTGCGTCTGGGTAAGATTCCCAGGGGTCTAGGCTGAGGTTCACCAGATTCTAGGTTAGGTTCCTAGAGTTGGGAGCCCCTGAGTGCCCAGAGAAGTCCCTAGAGATTTGGGCCTGGGGACCCCCCAGGGAACCCCCCACCCCTGCATCCAGAGAGGGGTCATGGGGCTCAGAGGGCCCAGGGGCAGGATGATGCAGTCTGGTGAGGAGGGCCATGGGGTTTGGACCTGGGATCTCACCAGCATTCACCTTGGGGTAACAGGGTCTGCGATAGGATCTCAGGCTCAGGGGAGGGGTCCCTGGGATCTGGGGAAGGAGATTATGACAGTCTGGGGCCTGAGAACCTACTGCAGTTCAGGCCTGAATACCTCGAGTGCCTAGTATTGGAGTCTGTCGTCCCCCAAACATTGAAGCCTAGGCTCCTGCGGCTCAGAGCTGGCTCTTCCTAGTGTCTGGGGTGGGGGGACTGGGGTCTAGGGTCCCTTGTGTCTGGGCTGGGGGCCCCAGGGTTTGGGGAAAGGGGTCTGGACTTGGCAGAAGTCAGAAGGAAAGGTGGTCCCTGGGCTGAGGCCTGGGGACCTGGGCATCTGGGAGGAGGCTCTGTCCACCTTGCGCTGACCCTCTCCTCCAACTGTCCCCCTACCCCAGGAGGAGCAGCAGCGCCTGGCCGAGCTCTCCAAGTCCAACAAGCAGAACCTCTTCCTTGGCTCCCTCACCAGCCGCTTGTGGCCTCGCTCCAAACAGCCCTGAACTCTGGGCCTCCTCAAACTCAGTGCCTGGGTCCAGGGCCCCAGTGCTTCCAGACCAAGACTTGGGCCACCACTTGTCCAATAAAGTACATCCCAGACGCCACACCTGCTGTGTCCCGAGAGTCTCCAGATGGGGGCATCAGGGTGAGGTCCGGGACTCTTGGGTCATCGTCCCACAGTGGCTGATCGGCTGCCAAGCACAGTGGGGGTGCTTTGTTGGATCAGAGCAGATTTTTCACCCTGGTCTCGGAATCTAAAAACCCTCGCTGTGTCTTCCTGTGTGTTGCGTGATCTGTGAAAAATACATCTCCCTCTGACCACAGACTCCTCATCTGTGGAGAAGGGAAGAGAGGATGGCACTTGGCTTTAAAGACAGGTAGCTGCCAGGCTACTGTGG
Task1_train_27144
A variant on Chromosome 19 in gene DLL3 (delta like canonical Notch ligand 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Spondylocostal dysostosis 1, autosomal recessive
TCCCTCTGGGGTCACATGGGCAGACAGAAGAATGTGGAGTGGATCGAGGGGATGTCGGGAGGACCTCCCAGGGTGGCCCCTGCATAGTGGGACTTGAGACTGGACAAGGAGCAGCCCCCAGTGGTTAGGACTGAGGAGGGGGATGGGATTTTTCTCCAAGGAAACACCCTTCTCAAGTACTCTTGTCCCTGCCCAGGAGACACCCAGGTCCTTTGAATGCACCTGCCCGCGTGGGTTCTACGGGCTGCGGTGTGAGGTGAGCGGGGTGACATGTGCAGATGGACCCTGCTTCAACGGCGGCTTGTGTGTCGGGGGTGCAGACCCTGACTCTGCCTACATCTGCCACTGCCCACCCGGTTTCCAAGGCTCCAACTGTGAGAAGAGGGTGGACCGGTGCAGCCTGCAGCCATGCCGCAATGGTGAGGCCTGGAGGCCTGAACGGCGAGGGATGGGGTGGGGGTCCTGGATGGCTCAGACAGTCCAGGGTTGGAATCCTGGCTTTGACTCTTCTAACCCTAGGGCCTGGGGACCTGACCTTCCACCTGCAAGCCTGTAAAATGGGCAAGGAGACATTCCCTATCTCATAACTATTAATATTTACTGAGAATTTACTGTGTGCCAGGCCCTATTCTAGGCACTGAGGATACAGCAGGGAATGAAACAGACAAAGTCCCTGGCCCTGCCTGATAGAGCTGAGGTGCCTGGTGTGCTGAGGATAAGCAGGGAAGCCAGTGTGGTTATACTGAGATGAGGTCAGGGAGGTGACTGAGGCACATCTTGTGGGACCCCCTGGGTCACAAGAAGGGGAACTTTCACTTTTCCCCTGAGTGAGATGGAGCCACAGGAAGGTTCTGAGGAGAGAAGAGACCTGATATCGGTGCTAAAAGATTAAATGCGGCCCGGCACGGCGACTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGCTCAGGAGTTGGAGACCAGCCCGGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCAGGTGCTTGTAATCCCAGCTACTCGGGAGGCTAAGGCGGAAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCGCTCCCGCCTGGGCGACAGAGTGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTAAGTAAGATCATGAATGTAGGCTGAAGCAGAGAATTGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTTTCGAAAAAAAAAAAAAAAAAGATCATGAATGTAAAGGGCTGGCTGTGTATCTTCTTGCGAGTGAATACAATAATTCTCTCCCAAACACTGAGTGTTCATTCTGGGGTGTGTGGTACTAGGGACTCAGCACCGACCAGGACATCTCTGGGCCGCACCCTCCTGGGGGAACCAGCCCAGAGGGGAAGACAGACACCCTCAGACAGAGCCCAGGGTGGGTGGTCAGGGCTGTGATGTAGGAGCACAGGGCAGTGATCAGGGCTGGGATGGAGGAAGGAGCATCGGAGTAGAAACCTGAGGGGTGGGCTAGGGAAGAGAAAAGGTGGGAAAAAATGTGAGAAAAGGAGGAAGGGAAGAGAGGAGGGGTATTCTAGGCAGAGGAAGGCCAGAGGGTTCAAACACGTAGTTCTGGGAGCTGTCTACTATTGAAGTATGATCGAAGCCGAAGGAAAAAGAGACAAGGGCACCGAGAGCCAAAGAGGTGGAGCTGAATTAATTATTCCAAAACTTCATTAGGAAGAAAAGCGAGCTGGCTTTCCTGGCACACTCCAAGACGCTGGCCCTTAAGTTAGAGAGAAAAAGGGGACCCCGTGCAGCGATGACAGAGCTGGGAAACAGCGCGGGCAGGTGGGTCCCCGGCTCCCGGACTGCGCCCTCTGATGCTCCCTTCCCCACAGGCGGACTCTGCCTGGACCTGGGCCACGCCCTGCGCTGCCGCTGCCGCGCCGGCTTCGCGGGTCCTCGCTGCGAGCACGACCTGGACGACTGCGCGGGCCGCGCCTGCGCTAACGGCGGCACGTGTGTGGAGGGCGGCGGCGCGCACCGCTGCTCCTGCGCGCTGGGCTTCGGCGGCCGCGACTGCCGCGAGCGCGCGGACCCGTGCGCCGCGCGCCCCTGTGCTCACGGCGGCCGCTGCTACGCCCACTTCTCCGGCCTCGTCTGCGCTTGCGCTCCCGGCTACATGGGAGCGCGGTGTGAGTTCCCAGTGCACCCCGACGGCGCAAGCGCCTTGCCCGCGGCCCCGCCGGGCCTCAGGCCCGGGGACCCTCAGCGCTACCTTTTGCCTCCGGCTCTGGGACTGCTCGTGGCCGCGGGCGTGGCCGGCGCTGCGCTCTTGCTGGTCCACGTGCGCCGCCGTGGCCACTCCCAGGATGCTGGGTCTCGCTTGCTGGCTGGGACCCCGGAGCCGTCAGTCCACGCACTCCCGGATGCACTCAACAACCTAAGGACGCAGGAGGGTTCCGGGGATGGTCCGAGGTGAGGGGCTGCGCCACAGACGAACGCCTTGCGCTGCTGGCTGCTTTTACCCATCTCCGTGGTGCAGTTGGCCCGATTCCTTGATGCATTTCCCTGGTCGGTCTCTCTTACCCCGGTAGCTGGTTTTGGGTTCCCCTTTGTGATGGGTAGGGGAAAACAAGATCTGAGAATTTAAAGAGTCTGAGTTTTTCTTCTTTCTCTCCTCCCACAGCTCGTCCGTAGATTGGAATCGCCCTGAAGATGTAGACCCTCAAGGGATTTATGTCATATCTGCTCCTTCCATCTACGCTCGGGAGGTAGCGACGCCCCTTTTCCCCCCGCTACACACTGGGCGCGCTGGGCAGAGGCAGCACCTGCTTTTTCCCTACCCTTCCTCGATTCTGTCCGTGAAATGAATTGGGTAGAGTCTCTGGAAGGTTTTAAGCCCATTTTCAGTTCTAACTTACTTTCATCCTATTTTGCATCCCTCTTATCGTTTTGAGCTACCTGCCATCTTCTCTTTGAAAAACCTATGGGCTTGAGGAGGTCACGATGCCGACTCCGCCAGAGCTTTTCCACTGATTGTACTCAGCGGGGAGGCAGGGGAGGCAGAGGGGCAGCCTCTCTAATGCTTCCTACTCATTTTGTTTCTAGGCCTGACGCGTCTCCTCCATCCGCACCTGGAGTCAGAGCGTGGATTTTTGTATTTGCTCGGTGGTGCCCAGTCTCTGCCCCAGAGGCTTTGGAGTTCAATCTTGAAGGGGTGTCTGGGGGAACTTTACTGTTGCAAGTTGTAAATAATGGTTATTTATATCCTATTTTTTCTCACCCCATCTCTCTAGAAACACCTATAAAGGCTATTATTGTGATCAGTTTTGACTAACGAGGCTGAATGCTTTGTATTTGATGTTGGGGCTGAGGGGAAGAGATTTTGTCTCCTGAGGAGAATAGTAGACAGGACTCTTTATGTTGTAGGGGTCGGAAACGACTCAAACTGCTTTAAATATAAAAGAATTTATGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCACTGAACCACTGAGTGAGATCAGTGCTGAAGCAGGAGGATTGCTTGAGGCTGGGAGTTGGAGAGCAGCTGGGCAACACAGCGAGACCCCTATACGAAAAATTAAAACAAAATTAGCCAGGCCTGGTGGCGCACCTGTAGTTCTACATACTTGTGAGGCTGAGGCCGGGAGGATCGCCTCAGCTCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACACCACTGCACTAAAGCCTGGGCAATACAGCAAGATCCTGTCTCTTTAAAAAAAAATGTATTAGTGGCCGGGCGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTGGAGACTAGCCTGGCCAGCATGGCAGAACCTCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGCAGCGGCAGGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGAACTGCTTGAACT
TCCCTCTGGGGTCACATGGGCAGACAGAAGAATGTGGAGTGGATCGAGGGGATGTCGGGAGGACCTCCCAGGGTGGCCCCTGCATAGTGGGACTTGAGACTGGACAAGGAGCAGCCCCCAGTGGTTAGGACTGAGGAGGGGGATGGGATTTTTCTCCAAGGAAACACCCTTCTCAAGTACTCTTGTCCCTGCCCAGGAGACACCCAGGTCCTTTGAATGCACCTGCCCGCGTGGGTTCTACGGGCTGCGGTGTGAGGTGAGCGGGGTGACATGTGCAGATGGACCCTGCTTCAACGGCGGCTTGTGTGTCGGGGGTGCAGACCCTGACTCTGCCTACATCTGCCACTGCCCACCCGGTTTCCAAGGCTCCAACTGTGAGAAGAGGGTGGACCGGTGCAGCCTGCAGCCATGCCGCAATGGTGAGGCCTGGAGGCCTGAACGGCGAGGGATGGGGTGGGGGTCCTGGATGGCTCAGACAGTCCAGGGTTGGAATCCTGGCTTTGACTCTTCTAACCCTAGGGCCTGGGGACCTGACCTTCCACCTGCAAGCCTGTAAAATGGGCAAGGAGACATTCCCTATCTCATAACTATTAATATTTACTGAGAATTTACTGTGTGCCAGGCCCTATTCTAGGCACTGAGGATACAGCAGGGAATGAAACAGACAAAGTCCCTGGCCCTGCCTGATAGAGCTGAGGTGCCTGGTGTGCTGAGGATAAGCAGGGAAGCCAGTGTGGTTATACTGAGATGAGGTCAGGGAGGTGACTGAGGCACATCTTGTGGGACCCCCTGGGTCACAAGAAGGGGAACTTTCACTTTTCCCCTGAGTGAGATGGAGCCACAGGAAGGTTCTGAGGAGAGAAGAGACCTGATATCGGTGCTAAAAGATTAAATGCGGCCCGGCACGGCGACTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGCTCAGGAGTTGGAGACCAGCCCGGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCAGGTGCTTGTAATCCCAGCTACTCGGGAGGCTAAGGCGGAAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCGCTCCCGCCTGGGCGACAGAGTGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTAAGTAAGATCATGAATGTAGGCTGAAGCAGAGAATTGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTTTCGAAAAAAAAAAAAAAAAAGATCATGAATGTAAAGGGCTGGCTGTGTATCTTCTTGCGAGTGAATACAATAATTCTCTCCCAAACACTGAGTGTTCATTCTGGGGTGTGTGGTACTAGGGACTCAGCACCGACCAGGACATCTCTGGGCCGCACCCTCCTGGGGGAACCAGCCCAGAGGGGAAGACAGACACCCTCAGACAGAGCCCAGGGTGGGTGGTCAGGGCTGTGATGTAGGAGCACAGGGCAGTGATCAGGGCTGGGATGGAGGAAGGAGCATCGGAGTAGAAACCTGAGGGGTGGGCTAGGGAAGAGAAAAGGTGGGAAAAAATGTGAGAAAAGGAGGAAGGGAAGAGAGGAGGGGTATTCTAGGCAGAGGAAGGCCAGAGGGTTCAAACACGTAGTTCTGGGAGCTGTCTACTATTGAAGTATGATCGAAGCCGAAGGAAAAAGAGACAAGGGCACCGAGAGCCAAAGAGGTGGAGCTGAATTAATTATTCCAAAACTTCATTAGGAAGAAAAGCGAGCTGGCTTTCCTGGCACACTCCAAGACGCTGGCCCTTAAGTTAGAGAGAAAAAGGGGACCCCGTGCAGCGATGACAGAGCTGGGAAACAGCGCGGGCAGGTGGGTCCCCGGCTCCCGGACTGCGCCCTCTGATGCTCCCTTCCCCACAGGCGGACTCTGCCTGGACCTGGGCCACGCCCTGCGCTGCCGCTACCGCGCCGGCTTCGCGGGTCCTCGCTGCGAGCACGACCTGGACGACTGCGCGGGCCGCGCCTGCGCTAACGGCGGCACGTGTGTGGAGGGCGGCGGCGCGCACCGCTGCTCCTGCGCGCTGGGCTTCGGCGGCCGCGACTGCCGCGAGCGCGCGGACCCGTGCGCCGCGCGCCCCTGTGCTCACGGCGGCCGCTGCTACGCCCACTTCTCCGGCCTCGTCTGCGCTTGCGCTCCCGGCTACATGGGAGCGCGGTGTGAGTTCCCAGTGCACCCCGACGGCGCAAGCGCCTTGCCCGCGGCCCCGCCGGGCCTCAGGCCCGGGGACCCTCAGCGCTACCTTTTGCCTCCGGCTCTGGGACTGCTCGTGGCCGCGGGCGTGGCCGGCGCTGCGCTCTTGCTGGTCCACGTGCGCCGCCGTGGCCACTCCCAGGATGCTGGGTCTCGCTTGCTGGCTGGGACCCCGGAGCCGTCAGTCCACGCACTCCCGGATGCACTCAACAACCTAAGGACGCAGGAGGGTTCCGGGGATGGTCCGAGGTGAGGGGCTGCGCCACAGACGAACGCCTTGCGCTGCTGGCTGCTTTTACCCATCTCCGTGGTGCAGTTGGCCCGATTCCTTGATGCATTTCCCTGGTCGGTCTCTCTTACCCCGGTAGCTGGTTTTGGGTTCCCCTTTGTGATGGGTAGGGGAAAACAAGATCTGAGAATTTAAAGAGTCTGAGTTTTTCTTCTTTCTCTCCTCCCACAGCTCGTCCGTAGATTGGAATCGCCCTGAAGATGTAGACCCTCAAGGGATTTATGTCATATCTGCTCCTTCCATCTACGCTCGGGAGGTAGCGACGCCCCTTTTCCCCCCGCTACACACTGGGCGCGCTGGGCAGAGGCAGCACCTGCTTTTTCCCTACCCTTCCTCGATTCTGTCCGTGAAATGAATTGGGTAGAGTCTCTGGAAGGTTTTAAGCCCATTTTCAGTTCTAACTTACTTTCATCCTATTTTGCATCCCTCTTATCGTTTTGAGCTACCTGCCATCTTCTCTTTGAAAAACCTATGGGCTTGAGGAGGTCACGATGCCGACTCCGCCAGAGCTTTTCCACTGATTGTACTCAGCGGGGAGGCAGGGGAGGCAGAGGGGCAGCCTCTCTAATGCTTCCTACTCATTTTGTTTCTAGGCCTGACGCGTCTCCTCCATCCGCACCTGGAGTCAGAGCGTGGATTTTTGTATTTGCTCGGTGGTGCCCAGTCTCTGCCCCAGAGGCTTTGGAGTTCAATCTTGAAGGGGTGTCTGGGGGAACTTTACTGTTGCAAGTTGTAAATAATGGTTATTTATATCCTATTTTTTCTCACCCCATCTCTCTAGAAACACCTATAAAGGCTATTATTGTGATCAGTTTTGACTAACGAGGCTGAATGCTTTGTATTTGATGTTGGGGCTGAGGGGAAGAGATTTTGTCTCCTGAGGAGAATAGTAGACAGGACTCTTTATGTTGTAGGGGTCGGAAACGACTCAAACTGCTTTAAATATAAAAGAATTTATGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCACTGAACCACTGAGTGAGATCAGTGCTGAAGCAGGAGGATTGCTTGAGGCTGGGAGTTGGAGAGCAGCTGGGCAACACAGCGAGACCCCTATACGAAAAATTAAAACAAAATTAGCCAGGCCTGGTGGCGCACCTGTAGTTCTACATACTTGTGAGGCTGAGGCCGGGAGGATCGCCTCAGCTCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACACCACTGCACTAAAGCCTGGGCAATACAGCAAGATCCTGTCTCTTTAAAAAAAAATGTATTAGTGGCCGGGCGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTGGAGACTAGCCTGGCCAGCATGGCAGAACCTCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGCAGCGGCAGGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGAACTGCTTGAACT
Task1_train_27145
Chromosome 19 houses a mutation in gene DLL3 (delta like canonical Notch ligand 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
GGCAGACAGAAGAATGTGGAGTGGATCGAGGGGATGTCGGGAGGACCTCCCAGGGTGGCCCCTGCATAGTGGGACTTGAGACTGGACAAGGAGCAGCCCCCAGTGGTTAGGACTGAGGAGGGGGATGGGATTTTTCTCCAAGGAAACACCCTTCTCAAGTACTCTTGTCCCTGCCCAGGAGACACCCAGGTCCTTTGAATGCACCTGCCCGCGTGGGTTCTACGGGCTGCGGTGTGAGGTGAGCGGGGTGACATGTGCAGATGGACCCTGCTTCAACGGCGGCTTGTGTGTCGGGGGTGCAGACCCTGACTCTGCCTACATCTGCCACTGCCCACCCGGTTTCCAAGGCTCCAACTGTGAGAAGAGGGTGGACCGGTGCAGCCTGCAGCCATGCCGCAATGGTGAGGCCTGGAGGCCTGAACGGCGAGGGATGGGGTGGGGGTCCTGGATGGCTCAGACAGTCCAGGGTTGGAATCCTGGCTTTGACTCTTCTAACCCTAGGGCCTGGGGACCTGACCTTCCACCTGCAAGCCTGTAAAATGGGCAAGGAGACATTCCCTATCTCATAACTATTAATATTTACTGAGAATTTACTGTGTGCCAGGCCCTATTCTAGGCACTGAGGATACAGCAGGGAATGAAACAGACAAAGTCCCTGGCCCTGCCTGATAGAGCTGAGGTGCCTGGTGTGCTGAGGATAAGCAGGGAAGCCAGTGTGGTTATACTGAGATGAGGTCAGGGAGGTGACTGAGGCACATCTTGTGGGACCCCCTGGGTCACAAGAAGGGGAACTTTCACTTTTCCCCTGAGTGAGATGGAGCCACAGGAAGGTTCTGAGGAGAGAAGAGACCTGATATCGGTGCTAAAAGATTAAATGCGGCCCGGCACGGCGACTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGCTCAGGAGTTGGAGACCAGCCCGGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCAGGTGCTTGTAATCCCAGCTACTCGGGAGGCTAAGGCGGAAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCGCTCCCGCCTGGGCGACAGAGTGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTAAGTAAGATCATGAATGTAGGCTGAAGCAGAGAATTGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTTTCGAAAAAAAAAAAAAAAAAGATCATGAATGTAAAGGGCTGGCTGTGTATCTTCTTGCGAGTGAATACAATAATTCTCTCCCAAACACTGAGTGTTCATTCTGGGGTGTGTGGTACTAGGGACTCAGCACCGACCAGGACATCTCTGGGCCGCACCCTCCTGGGGGAACCAGCCCAGAGGGGAAGACAGACACCCTCAGACAGAGCCCAGGGTGGGTGGTCAGGGCTGTGATGTAGGAGCACAGGGCAGTGATCAGGGCTGGGATGGAGGAAGGAGCATCGGAGTAGAAACCTGAGGGGTGGGCTAGGGAAGAGAAAAGGTGGGAAAAAATGTGAGAAAAGGAGGAAGGGAAGAGAGGAGGGGTATTCTAGGCAGAGGAAGGCCAGAGGGTTCAAACACGTAGTTCTGGGAGCTGTCTACTATTGAAGTATGATCGAAGCCGAAGGAAAAAGAGACAAGGGCACCGAGAGCCAAAGAGGTGGAGCTGAATTAATTATTCCAAAACTTCATTAGGAAGAAAAGCGAGCTGGCTTTCCTGGCACACTCCAAGACGCTGGCCCTTAAGTTAGAGAGAAAAAGGGGACCCCGTGCAGCGATGACAGAGCTGGGAAACAGCGCGGGCAGGTGGGTCCCCGGCTCCCGGACTGCGCCCTCTGATGCTCCCTTCCCCACAGGCGGACTCTGCCTGGACCTGGGCCACGCCCTGCGCTGCCGCTGCCGCGCCGGCTTCGCGGGTCCTCGCTGCGAGCACGACCTGGACGACTGCGCGGGCCGCGCCTGCGCTAACGGCGGCACGTGTGTGGAGGGCGGCGGCGCGCACCGCTGCTCCTGCGCGCTGGGCTTCGGCGGCCGCGACTGCCGCGAGCGCGCGGACCCGTGCGCCGCGCGCCCCTGTGCTCACGGCGGCCGCTGCTACGCCCACTTCTCCGGCCTCGTCTGCGCTTGCGCTCCCGGCTACATGGGAGCGCGGTGTGAGTTCCCAGTGCACCCCGACGGCGCAAGCGCCTTGCCCGCGGCCCCGCCGGGCCTCAGGCCCGGGGACCCTCAGCGCTACCTTTTGCCTCCGGCTCTGGGACTGCTCGTGGCCGCGGGCGTGGCCGGCGCTGCGCTCTTGCTGGTCCACGTGCGCCGCCGTGGCCACTCCCAGGATGCTGGGTCTCGCTTGCTGGCTGGGACCCCGGAGCCGTCAGTCCACGCACTCCCGGATGCACTCAACAACCTAAGGACGCAGGAGGGTTCCGGGGATGGTCCGAGGTGAGGGGCTGCGCCACAGACGAACGCCTTGCGCTGCTGGCTGCTTTTACCCATCTCCGTGGTGCAGTTGGCCCGATTCCTTGATGCATTTCCCTGGTCGGTCTCTCTTACCCCGGTAGCTGGTTTTGGGTTCCCCTTTGTGATGGGTAGGGGAAAACAAGATCTGAGAATTTAAAGAGTCTGAGTTTTTCTTCTTTCTCTCCTCCCACAGCTCGTCCGTAGATTGGAATCGCCCTGAAGATGTAGACCCTCAAGGGATTTATGTCATATCTGCTCCTTCCATCTACGCTCGGGAGGTAGCGACGCCCCTTTTCCCCCCGCTACACACTGGGCGCGCTGGGCAGAGGCAGCACCTGCTTTTTCCCTACCCTTCCTCGATTCTGTCCGTGAAATGAATTGGGTAGAGTCTCTGGAAGGTTTTAAGCCCATTTTCAGTTCTAACTTACTTTCATCCTATTTTGCATCCCTCTTATCGTTTTGAGCTACCTGCCATCTTCTCTTTGAAAAACCTATGGGCTTGAGGAGGTCACGATGCCGACTCCGCCAGAGCTTTTCCACTGATTGTACTCAGCGGGGAGGCAGGGGAGGCAGAGGGGCAGCCTCTCTAATGCTTCCTACTCATTTTGTTTCTAGGCCTGACGCGTCTCCTCCATCCGCACCTGGAGTCAGAGCGTGGATTTTTGTATTTGCTCGGTGGTGCCCAGTCTCTGCCCCAGAGGCTTTGGAGTTCAATCTTGAAGGGGTGTCTGGGGGAACTTTACTGTTGCAAGTTGTAAATAATGGTTATTTATATCCTATTTTTTCTCACCCCATCTCTCTAGAAACACCTATAAAGGCTATTATTGTGATCAGTTTTGACTAACGAGGCTGAATGCTTTGTATTTGATGTTGGGGCTGAGGGGAAGAGATTTTGTCTCCTGAGGAGAATAGTAGACAGGACTCTTTATGTTGTAGGGGTCGGAAACGACTCAAACTGCTTTAAATATAAAAGAATTTATGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCACTGAACCACTGAGTGAGATCAGTGCTGAAGCAGGAGGATTGCTTGAGGCTGGGAGTTGGAGAGCAGCTGGGCAACACAGCGAGACCCCTATACGAAAAATTAAAACAAAATTAGCCAGGCCTGGTGGCGCACCTGTAGTTCTACATACTTGTGAGGCTGAGGCCGGGAGGATCGCCTCAGCTCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACACCACTGCACTAAAGCCTGGGCAATACAGCAAGATCCTGTCTCTTTAAAAAAAAATGTATTAGTGGCCGGGCGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTGGAGACTAGCCTGGCCAGCATGGCAGAACCTCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGCAGCGGCAGGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGAACTGCTTGAACTCGGGAAGTGGAGGTTGCA
GGCAGACAGAAGAATGTGGAGTGGATCGAGGGGATGTCGGGAGGACCTCCCAGGGTGGCCCCTGCATAGTGGGACTTGAGACTGGACAAGGAGCAGCCCCCAGTGGTTAGGACTGAGGAGGGGGATGGGATTTTTCTCCAAGGAAACACCCTTCTCAAGTACTCTTGTCCCTGCCCAGGAGACACCCAGGTCCTTTGAATGCACCTGCCCGCGTGGGTTCTACGGGCTGCGGTGTGAGGTGAGCGGGGTGACATGTGCAGATGGACCCTGCTTCAACGGCGGCTTGTGTGTCGGGGGTGCAGACCCTGACTCTGCCTACATCTGCCACTGCCCACCCGGTTTCCAAGGCTCCAACTGTGAGAAGAGGGTGGACCGGTGCAGCCTGCAGCCATGCCGCAATGGTGAGGCCTGGAGGCCTGAACGGCGAGGGATGGGGTGGGGGTCCTGGATGGCTCAGACAGTCCAGGGTTGGAATCCTGGCTTTGACTCTTCTAACCCTAGGGCCTGGGGACCTGACCTTCCACCTGCAAGCCTGTAAAATGGGCAAGGAGACATTCCCTATCTCATAACTATTAATATTTACTGAGAATTTACTGTGTGCCAGGCCCTATTCTAGGCACTGAGGATACAGCAGGGAATGAAACAGACAAAGTCCCTGGCCCTGCCTGATAGAGCTGAGGTGCCTGGTGTGCTGAGGATAAGCAGGGAAGCCAGTGTGGTTATACTGAGATGAGGTCAGGGAGGTGACTGAGGCACATCTTGTGGGACCCCCTGGGTCACAAGAAGGGGAACTTTCACTTTTCCCCTGAGTGAGATGGAGCCACAGGAAGGTTCTGAGGAGAGAAGAGACCTGATATCGGTGCTAAAAGATTAAATGCGGCCCGGCACGGCGACTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGCTCAGGAGTTGGAGACCAGCCCGGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCAGGTGCTTGTAATCCCAGCTACTCGGGAGGCTAAGGCGGAAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCGCTCCCGCCTGGGCGACAGAGTGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTAAGTAAGATCATGAATGTAGGCTGAAGCAGAGAATTGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTTTCGAAAAAAAAAAAAAAAAAGATCATGAATGTAAAGGGCTGGCTGTGTATCTTCTTGCGAGTGAATACAATAATTCTCTCCCAAACACTGAGTGTTCATTCTGGGGTGTGTGGTACTAGGGACTCAGCACCGACCAGGACATCTCTGGGCCGCACCCTCCTGGGGGAACCAGCCCAGAGGGGAAGACAGACACCCTCAGACAGAGCCCAGGGTGGGTGGTCAGGGCTGTGATGTAGGAGCACAGGGCAGTGATCAGGGCTGGGATGGAGGAAGGAGCATCGGAGTAGAAACCTGAGGGGTGGGCTAGGGAAGAGAAAAGGTGGGAAAAAATGTGAGAAAAGGAGGAAGGGAAGAGAGGAGGGGTATTCTAGGCAGAGGAAGGCCAGAGGGTTCAAACACGTAGTTCTGGGAGCTGTCTACTATTGAAGTATGATCGAAGCCGAAGGAAAAAGAGACAAGGGCACCGAGAGCCAAAGAGGTGGAGCTGAATTAATTATTCCAAAACTTCATTAGGAAGAAAAGCGAGCTGGCTTTCCTGGCACACTCCAAGACGCTGGCCCTTAAGTTAGAGAGAAAAAGGGGACCCCGTGCAGCGATGACAGAGCTGGGAAACAGCGCGGGCAGGTGGGTCCCCGGCTCCCGGACTGCGCCCTCTGATGCTCCCTTCCCCACAGGCGGACTCTGCCTGGACCTGGGCCACGCCCTGCGCTGCCGCTGCCGCGCCGGCTTCGCGGATCCTCGCTGCGAGCACGACCTGGACGACTGCGCGGGCCGCGCCTGCGCTAACGGCGGCACGTGTGTGGAGGGCGGCGGCGCGCACCGCTGCTCCTGCGCGCTGGGCTTCGGCGGCCGCGACTGCCGCGAGCGCGCGGACCCGTGCGCCGCGCGCCCCTGTGCTCACGGCGGCCGCTGCTACGCCCACTTCTCCGGCCTCGTCTGCGCTTGCGCTCCCGGCTACATGGGAGCGCGGTGTGAGTTCCCAGTGCACCCCGACGGCGCAAGCGCCTTGCCCGCGGCCCCGCCGGGCCTCAGGCCCGGGGACCCTCAGCGCTACCTTTTGCCTCCGGCTCTGGGACTGCTCGTGGCCGCGGGCGTGGCCGGCGCTGCGCTCTTGCTGGTCCACGTGCGCCGCCGTGGCCACTCCCAGGATGCTGGGTCTCGCTTGCTGGCTGGGACCCCGGAGCCGTCAGTCCACGCACTCCCGGATGCACTCAACAACCTAAGGACGCAGGAGGGTTCCGGGGATGGTCCGAGGTGAGGGGCTGCGCCACAGACGAACGCCTTGCGCTGCTGGCTGCTTTTACCCATCTCCGTGGTGCAGTTGGCCCGATTCCTTGATGCATTTCCCTGGTCGGTCTCTCTTACCCCGGTAGCTGGTTTTGGGTTCCCCTTTGTGATGGGTAGGGGAAAACAAGATCTGAGAATTTAAAGAGTCTGAGTTTTTCTTCTTTCTCTCCTCCCACAGCTCGTCCGTAGATTGGAATCGCCCTGAAGATGTAGACCCTCAAGGGATTTATGTCATATCTGCTCCTTCCATCTACGCTCGGGAGGTAGCGACGCCCCTTTTCCCCCCGCTACACACTGGGCGCGCTGGGCAGAGGCAGCACCTGCTTTTTCCCTACCCTTCCTCGATTCTGTCCGTGAAATGAATTGGGTAGAGTCTCTGGAAGGTTTTAAGCCCATTTTCAGTTCTAACTTACTTTCATCCTATTTTGCATCCCTCTTATCGTTTTGAGCTACCTGCCATCTTCTCTTTGAAAAACCTATGGGCTTGAGGAGGTCACGATGCCGACTCCGCCAGAGCTTTTCCACTGATTGTACTCAGCGGGGAGGCAGGGGAGGCAGAGGGGCAGCCTCTCTAATGCTTCCTACTCATTTTGTTTCTAGGCCTGACGCGTCTCCTCCATCCGCACCTGGAGTCAGAGCGTGGATTTTTGTATTTGCTCGGTGGTGCCCAGTCTCTGCCCCAGAGGCTTTGGAGTTCAATCTTGAAGGGGTGTCTGGGGGAACTTTACTGTTGCAAGTTGTAAATAATGGTTATTTATATCCTATTTTTTCTCACCCCATCTCTCTAGAAACACCTATAAAGGCTATTATTGTGATCAGTTTTGACTAACGAGGCTGAATGCTTTGTATTTGATGTTGGGGCTGAGGGGAAGAGATTTTGTCTCCTGAGGAGAATAGTAGACAGGACTCTTTATGTTGTAGGGGTCGGAAACGACTCAAACTGCTTTAAATATAAAAGAATTTATGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCACTGAACCACTGAGTGAGATCAGTGCTGAAGCAGGAGGATTGCTTGAGGCTGGGAGTTGGAGAGCAGCTGGGCAACACAGCGAGACCCCTATACGAAAAATTAAAACAAAATTAGCCAGGCCTGGTGGCGCACCTGTAGTTCTACATACTTGTGAGGCTGAGGCCGGGAGGATCGCCTCAGCTCAGGAGTTTGAGGCTGCAGTGAGCTATGATCACACCACTGCACTAAAGCCTGGGCAATACAGCAAGATCCTGTCTCTTTAAAAAAAAATGTATTAGTGGCCGGGCGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTGGAGACTAGCCTGGCCAGCATGGCAGAACCTCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGCAGCGGCAGGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGAACTGCTTGAACTCGGGAAGTGGAGGTTGCA
Task1_train_27146
This genomic variant is located on Chromosome 19, within the DYRK1B (dual specificity tyrosine phosphorylation regulated kinase 1B) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; not provided
GAATGATGCTGAGCTCAGGCGTGGCCAGAAAGAGCAGTGCCGTGCAGAGCTGCTGCGCCAGCTTCCGGGTCAGGTTCAGCGAGACGCCGCGGAAGTGGGTGTTGCGCAGGAGGTCGTACAGGTTGTAGGACAGCAGCTCAAATACCAGGCACAGGTGGTTCCGGAACATGAAGTGCCGCTTCAGGTGTACTGCGGGGGAGGGGAGGAAATGGGCCAGAGAAGAAACGGCTCAGAGAGGGCAGGTGGTGGCCTGGGGTCATACAACGCTCTTTGATTACTAGCCACATTGTGCTGTCCCCACGGGTACCATCTGCTAGTCAAAATCTTTTTATCTAACAACTAGATTCACACAGGAAGTTAATGCTCTTTCCAAGTCTCTGTCAAACCCTCCAATTAAACCAAAGAGAAAGTTTCATTAGTTACTACTAGCTCTAACACATTCTACACTTCCTCATTTAATTTCATAACACTGCTTTCATCTCCCTTGTATTCATTTTTGTGGCAAAGGACACTGGTTTTCCGTTTACTTTAAGGATATACGTTTTCCTTTCAAACGAAACCATTTTAAAATCCACTTGCTGTTTATGATTATGTTGTGATGTTTATGTCCATGAGCAGGAATCAGTTTAAGGGAGGAGAAAGACTGGCACAGATGTTAAGAGTAACAGCTCTGGAGTCCACGACCTCATCAAATTATAGCTCAATTAGTACAAACTGCCACCTCATGCAAGTGACAGCACTTGAATGCCTGAGTTTCTTTTTTCCTTTCTTCGTTTTTTTTTGTTGTTGTTGTAACTGTTGTTGTTGTTATTAGGTTTGGTTTTTTGTTTGTTTTGGGTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCAGGCTGGAGTGCAGTGGCGTGGTCCCAGCTCACTGTAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGCACCACCACATCAAGCTAATTTTTTCACATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGATATCATGATCCGCCCACCTCGGCCTCCAAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCGTTTTGTTTGTTTTATTGAAGAAGAAACTAGGATGGAAGCCCAGGTTTCTTATCTTCAAGATGTTGTTAATAATGCCCTTCCCCTTATGGGCTGTGGTGAGTTAACTTCCAAGTGCTTCCAAGAGAGCCTGGCCCTTGGTGAGCACTCAGTAACCTCTGACCATTACCAAGAAAATAGGACAAAAATCATAAAAGCAGCAGGAGAATCACTGATGTCAGAGAAGCACAGACCAAACCCTGCTCTGAAGACATCAGCCTCCTCCTGAGAGTAGGGCGGGGGTGTGACCCATCCCTACTGGCTCCAGCTCCCGCTATCCCAGGTGCCCACAGCCCTGCCAGTCCCAGGCCTCACCTATATAGTACTTCATCTCCGTGTCATGCTGGTTCATCAGCTCCAGCAGCCGCAGCTCAATCTGGGCCTGGTTCAGGAAAGCCTTTTTGTTCTTGATGATCTTGATGGCCACAAGCTCCTGGGTCTGATGATCATAGGCTTTCACCACCTGTTGGGGCAGGGCATGTCACGAAGAAAGGGGTGGGAGCAGGGCAGAGCCAGGCACCATTCTTCTCCCTCCAGGCAAGGAGACCCACCAAGAACACTATGCATACTTCGCAGCTGAGTGCGCACCATTAGTCAGGCGCTGGTGTAAACACTGGATGTGAAATAACATAACGACCTTATGTTGAGTCTTGTTATTTAAACTGTTTTACAGAAAAGGCGACTGAGGCACAGGGAAACTAAGTGGGCTAGGGTGAGTGGCCCAGCATGGGACTTGAAGCCACTGAACCACTGGGTGTGTGATCAATGTTAGTGGGGCCTTGGATCAGGGTGGTGGGGGGTGTCCCACACCTGGCCAAAGGAGCCTTTGCCAATGAGCGAGTCAATTTCGTAGCGCTCCAGCCAGCGCTCGCCACTGCGCACGATGTAGTCATGGTTGTCGTCATCATAACCATGGTTCAGGACCTTCTTCTCCTTCTTGTTGCTCGAATCCTGGGGTGGCGCCTGCTGGGCCCGCCGCTTCTTCTTCGCATAGTATACCTGCCCAGCCAGCCAGCCAGGAGATGGGGACTGGTGAGTGACTCATGCCAGCAGACAAGACCCTCGGCACCCAGCCCAGGATCCCCCAGCCCCTGCCCACCTCATTGATGTGCTTGTAGGTCTTGATGAGGTCCACAGAGAGCTTACGCAGCGGGGCTGAGGTTGCATCCCGGAAGGCCAGGGGCAGCCTCCGAGGCAGTAGCCGCACATCAGGCAATACCTGCAGGGCAGGGTGAGGGGTGGGCACTGAGGACGTGCCTTCACCTCCGACCTCAAGAGGAAGAACTGTAAGGGCTGCTGGCACATCATGTATTTGGTTGCTGTCTGTATTTGTTCCACCTGTCTAGGAAAGAAACTCCCCCAGGGCTGAGACTTTCTCTTGTTCTTACTATACCTCCAGTGCCTACAGCAGGGCCTGGCACACAATGGATGCTCTTAGAGATCTGTGGTGTGAATGAGTGAACTCTGACCTTTCACCCCTCACCTTTACTCCTTTCTGAACCTCAGAGGGAGAGATCATATGGAAAACCTGGGCTCTGTTCCTCCCCATTCTTCACTTTGAAGCCAGCCATTTTGGGTACCCTCTGAAGTACCTCTATCTCAATTTACCCTCATCCCTTGGGCCTCAACCCATACTCCCACCAACTCTTTGCACAGTTCTTTCACCCCAAGGCTCTTGGATCTGGATCTGGCCCCTGGACCTCCCACTTCATCCTGCTTCAAGCTCTGCATGTCACTGCCTTCACTGCCTCTAGCCTTGGGAGAGCTTTGCCCTCACCACCCATGCCTGTTGGCCTCAAGACCCTTTAGACTCAACCCCCCTCCAAATTCACCCAATCCAGATCTTTCACTCTGAACTTTTCTTAGTAGCATTTATTGGGTATTTACTATGTGCCAGGCACCATTCTAAGTGTTTTACATGCATACCATTAACTCATTTAATCCTCACAACAACCCTGTGAAGTAGGTATCATTATTGGCCCCATTTCACAGAATGAGTTGAGTTCTCCAACTCAAGTATGGAGAACCTAAGGAATTTAACCACTGGGTCAGGATTTGAACCCAGCCTCTCCAAACCCTGACTCTGCCTGAAAACTCCTCTGTTATTTTCCAATCCCATGGGACCCATTATGTGCCCAGAAGAATGTCTTGGGCAACCACACTACCTTTTGGTCTGGAGACCTTTCTATCCCCAGCCTCCCCCTACCACCACGCAGGTGAGGAGCCAGCTGAACGCGTACCTGCGTGTGCTCCTGGGGCCCTGGGAAGCCAGAGAAGGGACCATGGCCCGGTGGGACGGCCATGGTGGGCTCAGAGGGCCGCAGGGGAGCGAGGCCTGGAGCGGGAGCCCGGCCGGGGGGCGCCTTCTTGCATCCTGCACCTCGGCTGCCACCGCCGCTGAGACCTGAGAGCAGACAGGAAGTGGGAAAACAACATGGAACAAGGGGATATGTGAATAGTGCCAGGCGGGGAAGAGTGGACATGAGAAAGACAGGGCACAGAGAGAAGAGGAAAAGGGCACAACGGAGCAGCAGATAGCAATGAAGAGAAGGGGCAGAGAAGTGGTAGCCAGGTGGGGGGGGATGGCACAGCAGTCCCTCGACAAATAATGATCAAGTAAATGATTAAGGCAGCACAAAGAGAACACATAAAAGACAATGATTGGGGGCCAAGCAGGGGTCGATATGAGCCATCACAGGGAAAGGAGGACAGGAAGACACCAATAATTCAGAGGAGGAAAAGAAAAAAGAAACCACAGACAGTATGCAGAGGAGTAGGCTTCATTCTTTTCTCACTACTCGTGGCCCTCCCCAGGGCCCCTAACACAAGATGCCACTTTCTGTAGTCTTCCCTGAACATCAGGATCTCAGCCCGTAGCACAGCCAGGGCCAATACTTTAAGATCTATCCTTCTCAGTAGATTCCCT
GAATGATGCTGAGCTCAGGCGTGGCCAGAAAGAGCAGTGCCGTGCAGAGCTGCTGCGCCAGCTTCCGGGTCAGGTTCAGCGAGACGCCGCGGAAGTGGGTGTTGCGCAGGAGGTCGTACAGGTTGTAGGACAGCAGCTCAAATACCAGGCACAGGTGGTTCCGGAACATGAAGTGCCGCTTCAGGTGTACTGCGGGGGAGGGGAGGAAATGGGCCAGAGAAGAAACGGCTCAGAGAGGGCAGGTGGTGGCCTGGGGTCATACAACGCTCTTTGATTACTAGCCACATTGTGCTGTCCCCACGGGTACCATCTGCTAGTCAAAATCTTTTTATCTAACAACTAGATTCACACAGGAAGTTAATGCTCTTTCCAAGTCTCTGTCAAACCCTCCAATTAAACCAAAGAGAAAGTTTCATTAGTTACTACTAGCTCTAACACATTCTACACTTCCTCATTTAATTTCATAACACTGCTTTCATCTCCCTTGTATTCATTTTTGTGGCAAAGGACACTGGTTTTCCGTTTACTTTAAGGATATACGTTTTCCTTTCAAACGAAACCATTTTAAAATCCACTTGCTGTTTATGATTATGTTGTGATGTTTATGTCCATGAGCAGGAATCAGTTTAAGGGAGGAGAAAGACTGGCACAGATGTTAAGAGTAACAGCTCTGGAGTCCACGACCTCATCAAATTATAGCTCAATTAGTACAAACTGCCACCTCATGCAAGTGACAGCACTTGAATGCCTGAGTTTCTTTTTTCCTTTCTTCGTTTTTTTTTGTTGTTGTTGTAACTGTTGTTGTTGTTATTAGGTTTGGTTTTTTGTTTGTTTTGGGTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCAGGCTGGAGTGCAGTGGCGTGGTCCCAGCTCACTGTAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGCACCACCACATCAAGCTAATTTTTTCACATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGATATCATGATCCGCCCACCTCGGCCTCCAAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCGTTTTGTTTGTTTTATTGAAGAAGAAACTAGGATGGAAGCCCAGGTTTCTTATCTTCAAGATGTTGTTAATAATGCCCTTCCCCTTATGGGCTGTGGTGAGTTAACTTCCAAGTGCTTCCAAGAGAGCCTGGCCCTTGGTGAGCACTCAGTAACCTCTGACCATTACCAAGAAAATAGGACAAAAATCATAAAAGCAGCAGGAGAATCACTGATGTCAGAGAAGCACAGACCAAACCCTGCTCTGAAGACATCAGCCTCCTCCTGAGAGTAGGGCGGGGGTGTGACCCATCCCTACTGGCTCCAGCTCCCGCTATCCCAGGTGCCCACAGCCCTGCCAGTCCCAGGCCTCACCTATATAGTACTTCATCTCCGTGTCATGCTGGTTCATCAGCTCCAGCAGCCGCAGCTCAATCTGGGCCTGGTTCAGGAAAGCCTTTTTGTTCTTGATGATCTTGATGGCCACAAGCTCCTGGGTCTGATGATCATAGGCTTTCACCACCTGTTGGGGCAGGGCATGTCACGAAGAAAGGGGTGGGAGCAGGGCAGAGCCAGGCACCATTCTTCTCCCTCCAGGCAAGGAGACCCACCAAGAACACTATGCATACTTCGCAGCTGAGTGCGCACCATTAGTCAGGCGCTGGTGTAAACACTGGATGTGAAATAACATAACGACCTTATGTTGAGTCTTGTTATTTAAACTGTTTTACAGAAAAGGCGACTGAGGCACAGGGAAACTAAGTGGGCTAGGGTGAGTGGCCCAGCATGGGACTTGAAGCCACTGAACCACTGGGTGTGTGATCAATGTTAGTGGGGCCTTGGATCAGGGTGGTGGGGGGTGTCCCACACCTGGCCAAAGGAGCCTTTGCCAATGAGCGAGTCAATTTCGTAGCGCTCCAGCCAGCGCTCGCCACTGCACACGATGTAGTCATGGTTGTCGTCATCATAACCATGGTTCAGGACCTTCTTCTCCTTCTTGTTGCTCGAATCCTGGGGTGGCGCCTGCTGGGCCCGCCGCTTCTTCTTCGCATAGTATACCTGCCCAGCCAGCCAGCCAGGAGATGGGGACTGGTGAGTGACTCATGCCAGCAGACAAGACCCTCGGCACCCAGCCCAGGATCCCCCAGCCCCTGCCCACCTCATTGATGTGCTTGTAGGTCTTGATGAGGTCCACAGAGAGCTTACGCAGCGGGGCTGAGGTTGCATCCCGGAAGGCCAGGGGCAGCCTCCGAGGCAGTAGCCGCACATCAGGCAATACCTGCAGGGCAGGGTGAGGGGTGGGCACTGAGGACGTGCCTTCACCTCCGACCTCAAGAGGAAGAACTGTAAGGGCTGCTGGCACATCATGTATTTGGTTGCTGTCTGTATTTGTTCCACCTGTCTAGGAAAGAAACTCCCCCAGGGCTGAGACTTTCTCTTGTTCTTACTATACCTCCAGTGCCTACAGCAGGGCCTGGCACACAATGGATGCTCTTAGAGATCTGTGGTGTGAATGAGTGAACTCTGACCTTTCACCCCTCACCTTTACTCCTTTCTGAACCTCAGAGGGAGAGATCATATGGAAAACCTGGGCTCTGTTCCTCCCCATTCTTCACTTTGAAGCCAGCCATTTTGGGTACCCTCTGAAGTACCTCTATCTCAATTTACCCTCATCCCTTGGGCCTCAACCCATACTCCCACCAACTCTTTGCACAGTTCTTTCACCCCAAGGCTCTTGGATCTGGATCTGGCCCCTGGACCTCCCACTTCATCCTGCTTCAAGCTCTGCATGTCACTGCCTTCACTGCCTCTAGCCTTGGGAGAGCTTTGCCCTCACCACCCATGCCTGTTGGCCTCAAGACCCTTTAGACTCAACCCCCCTCCAAATTCACCCAATCCAGATCTTTCACTCTGAACTTTTCTTAGTAGCATTTATTGGGTATTTACTATGTGCCAGGCACCATTCTAAGTGTTTTACATGCATACCATTAACTCATTTAATCCTCACAACAACCCTGTGAAGTAGGTATCATTATTGGCCCCATTTCACAGAATGAGTTGAGTTCTCCAACTCAAGTATGGAGAACCTAAGGAATTTAACCACTGGGTCAGGATTTGAACCCAGCCTCTCCAAACCCTGACTCTGCCTGAAAACTCCTCTGTTATTTTCCAATCCCATGGGACCCATTATGTGCCCAGAAGAATGTCTTGGGCAACCACACTACCTTTTGGTCTGGAGACCTTTCTATCCCCAGCCTCCCCCTACCACCACGCAGGTGAGGAGCCAGCTGAACGCGTACCTGCGTGTGCTCCTGGGGCCCTGGGAAGCCAGAGAAGGGACCATGGCCCGGTGGGACGGCCATGGTGGGCTCAGAGGGCCGCAGGGGAGCGAGGCCTGGAGCGGGAGCCCGGCCGGGGGGCGCCTTCTTGCATCCTGCACCTCGGCTGCCACCGCCGCTGAGACCTGAGAGCAGACAGGAAGTGGGAAAACAACATGGAACAAGGGGATATGTGAATAGTGCCAGGCGGGGAAGAGTGGACATGAGAAAGACAGGGCACAGAGAGAAGAGGAAAAGGGCACAACGGAGCAGCAGATAGCAATGAAGAGAAGGGGCAGAGAAGTGGTAGCCAGGTGGGGGGGGATGGCACAGCAGTCCCTCGACAAATAATGATCAAGTAAATGATTAAGGCAGCACAAAGAGAACACATAAAAGACAATGATTGGGGGCCAAGCAGGGGTCGATATGAGCCATCACAGGGAAAGGAGGACAGGAAGACACCAATAATTCAGAGGAGGAAAAGAAAAAAGAAACCACAGACAGTATGCAGAGGAGTAGGCTTCATTCTTTTCTCACTACTCGTGGCCCTCCCCAGGGCCCCTAACACAAGATGCCACTTTCTGTAGTCTTCCCTGAACATCAGGATCTCAGCCCGTAGCACAGCCAGGGCCAATACTTTAAGATCTATCCTTCTCAGTAGATTCCCT
Task1_train_27147
This variant affects the gene DYRK1B (dual specificity tyrosine phosphorylation regulated kinase 1B) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Abdominal obesity-metabolic syndrome 3
AGTGCCGTGCAGAGCTGCTGCGCCAGCTTCCGGGTCAGGTTCAGCGAGACGCCGCGGAAGTGGGTGTTGCGCAGGAGGTCGTACAGGTTGTAGGACAGCAGCTCAAATACCAGGCACAGGTGGTTCCGGAACATGAAGTGCCGCTTCAGGTGTACTGCGGGGGAGGGGAGGAAATGGGCCAGAGAAGAAACGGCTCAGAGAGGGCAGGTGGTGGCCTGGGGTCATACAACGCTCTTTGATTACTAGCCACATTGTGCTGTCCCCACGGGTACCATCTGCTAGTCAAAATCTTTTTATCTAACAACTAGATTCACACAGGAAGTTAATGCTCTTTCCAAGTCTCTGTCAAACCCTCCAATTAAACCAAAGAGAAAGTTTCATTAGTTACTACTAGCTCTAACACATTCTACACTTCCTCATTTAATTTCATAACACTGCTTTCATCTCCCTTGTATTCATTTTTGTGGCAAAGGACACTGGTTTTCCGTTTACTTTAAGGATATACGTTTTCCTTTCAAACGAAACCATTTTAAAATCCACTTGCTGTTTATGATTATGTTGTGATGTTTATGTCCATGAGCAGGAATCAGTTTAAGGGAGGAGAAAGACTGGCACAGATGTTAAGAGTAACAGCTCTGGAGTCCACGACCTCATCAAATTATAGCTCAATTAGTACAAACTGCCACCTCATGCAAGTGACAGCACTTGAATGCCTGAGTTTCTTTTTTCCTTTCTTCGTTTTTTTTTGTTGTTGTTGTAACTGTTGTTGTTGTTATTAGGTTTGGTTTTTTGTTTGTTTTGGGTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCAGGCTGGAGTGCAGTGGCGTGGTCCCAGCTCACTGTAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGCACCACCACATCAAGCTAATTTTTTCACATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGATATCATGATCCGCCCACCTCGGCCTCCAAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCGTTTTGTTTGTTTTATTGAAGAAGAAACTAGGATGGAAGCCCAGGTTTCTTATCTTCAAGATGTTGTTAATAATGCCCTTCCCCTTATGGGCTGTGGTGAGTTAACTTCCAAGTGCTTCCAAGAGAGCCTGGCCCTTGGTGAGCACTCAGTAACCTCTGACCATTACCAAGAAAATAGGACAAAAATCATAAAAGCAGCAGGAGAATCACTGATGTCAGAGAAGCACAGACCAAACCCTGCTCTGAAGACATCAGCCTCCTCCTGAGAGTAGGGCGGGGGTGTGACCCATCCCTACTGGCTCCAGCTCCCGCTATCCCAGGTGCCCACAGCCCTGCCAGTCCCAGGCCTCACCTATATAGTACTTCATCTCCGTGTCATGCTGGTTCATCAGCTCCAGCAGCCGCAGCTCAATCTGGGCCTGGTTCAGGAAAGCCTTTTTGTTCTTGATGATCTTGATGGCCACAAGCTCCTGGGTCTGATGATCATAGGCTTTCACCACCTGTTGGGGCAGGGCATGTCACGAAGAAAGGGGTGGGAGCAGGGCAGAGCCAGGCACCATTCTTCTCCCTCCAGGCAAGGAGACCCACCAAGAACACTATGCATACTTCGCAGCTGAGTGCGCACCATTAGTCAGGCGCTGGTGTAAACACTGGATGTGAAATAACATAACGACCTTATGTTGAGTCTTGTTATTTAAACTGTTTTACAGAAAAGGCGACTGAGGCACAGGGAAACTAAGTGGGCTAGGGTGAGTGGCCCAGCATGGGACTTGAAGCCACTGAACCACTGGGTGTGTGATCAATGTTAGTGGGGCCTTGGATCAGGGTGGTGGGGGGTGTCCCACACCTGGCCAAAGGAGCCTTTGCCAATGAGCGAGTCAATTTCGTAGCGCTCCAGCCAGCGCTCGCCACTGCGCACGATGTAGTCATGGTTGTCGTCATCATAACCATGGTTCAGGACCTTCTTCTCCTTCTTGTTGCTCGAATCCTGGGGTGGCGCCTGCTGGGCCCGCCGCTTCTTCTTCGCATAGTATACCTGCCCAGCCAGCCAGCCAGGAGATGGGGACTGGTGAGTGACTCATGCCAGCAGACAAGACCCTCGGCACCCAGCCCAGGATCCCCCAGCCCCTGCCCACCTCATTGATGTGCTTGTAGGTCTTGATGAGGTCCACAGAGAGCTTACGCAGCGGGGCTGAGGTTGCATCCCGGAAGGCCAGGGGCAGCCTCCGAGGCAGTAGCCGCACATCAGGCAATACCTGCAGGGCAGGGTGAGGGGTGGGCACTGAGGACGTGCCTTCACCTCCGACCTCAAGAGGAAGAACTGTAAGGGCTGCTGGCACATCATGTATTTGGTTGCTGTCTGTATTTGTTCCACCTGTCTAGGAAAGAAACTCCCCCAGGGCTGAGACTTTCTCTTGTTCTTACTATACCTCCAGTGCCTACAGCAGGGCCTGGCACACAATGGATGCTCTTAGAGATCTGTGGTGTGAATGAGTGAACTCTGACCTTTCACCCCTCACCTTTACTCCTTTCTGAACCTCAGAGGGAGAGATCATATGGAAAACCTGGGCTCTGTTCCTCCCCATTCTTCACTTTGAAGCCAGCCATTTTGGGTACCCTCTGAAGTACCTCTATCTCAATTTACCCTCATCCCTTGGGCCTCAACCCATACTCCCACCAACTCTTTGCACAGTTCTTTCACCCCAAGGCTCTTGGATCTGGATCTGGCCCCTGGACCTCCCACTTCATCCTGCTTCAAGCTCTGCATGTCACTGCCTTCACTGCCTCTAGCCTTGGGAGAGCTTTGCCCTCACCACCCATGCCTGTTGGCCTCAAGACCCTTTAGACTCAACCCCCCTCCAAATTCACCCAATCCAGATCTTTCACTCTGAACTTTTCTTAGTAGCATTTATTGGGTATTTACTATGTGCCAGGCACCATTCTAAGTGTTTTACATGCATACCATTAACTCATTTAATCCTCACAACAACCCTGTGAAGTAGGTATCATTATTGGCCCCATTTCACAGAATGAGTTGAGTTCTCCAACTCAAGTATGGAGAACCTAAGGAATTTAACCACTGGGTCAGGATTTGAACCCAGCCTCTCCAAACCCTGACTCTGCCTGAAAACTCCTCTGTTATTTTCCAATCCCATGGGACCCATTATGTGCCCAGAAGAATGTCTTGGGCAACCACACTACCTTTTGGTCTGGAGACCTTTCTATCCCCAGCCTCCCCCTACCACCACGCAGGTGAGGAGCCAGCTGAACGCGTACCTGCGTGTGCTCCTGGGGCCCTGGGAAGCCAGAGAAGGGACCATGGCCCGGTGGGACGGCCATGGTGGGCTCAGAGGGCCGCAGGGGAGCGAGGCCTGGAGCGGGAGCCCGGCCGGGGGGCGCCTTCTTGCATCCTGCACCTCGGCTGCCACCGCCGCTGAGACCTGAGAGCAGACAGGAAGTGGGAAAACAACATGGAACAAGGGGATATGTGAATAGTGCCAGGCGGGGAAGAGTGGACATGAGAAAGACAGGGCACAGAGAGAAGAGGAAAAGGGCACAACGGAGCAGCAGATAGCAATGAAGAGAAGGGGCAGAGAAGTGGTAGCCAGGTGGGGGGGGATGGCACAGCAGTCCCTCGACAAATAATGATCAAGTAAATGATTAAGGCAGCACAAAGAGAACACATAAAAGACAATGATTGGGGGCCAAGCAGGGGTCGATATGAGCCATCACAGGGAAAGGAGGACAGGAAGACACCAATAATTCAGAGGAGGAAAAGAAAAAAGAAACCACAGACAGTATGCAGAGGAGTAGGCTTCATTCTTTTCTCACTACTCGTGGCCCTCCCCAGGGCCCCTAACACAAGATGCCACTTTCTGTAGTCTTCCCTGAACATCAGGATCTCAGCCCGTAGCACAGCCAGGGCCAATACTTTAAGATCTATCCTTCTCAGTAGATTCCCTCAACCCAGAGAACTCTAGGATTCCCAAACCACATG
AGTGCCGTGCAGAGCTGCTGCGCCAGCTTCCGGGTCAGGTTCAGCGAGACGCCGCGGAAGTGGGTGTTGCGCAGGAGGTCGTACAGGTTGTAGGACAGCAGCTCAAATACCAGGCACAGGTGGTTCCGGAACATGAAGTGCCGCTTCAGGTGTACTGCGGGGGAGGGGAGGAAATGGGCCAGAGAAGAAACGGCTCAGAGAGGGCAGGTGGTGGCCTGGGGTCATACAACGCTCTTTGATTACTAGCCACATTGTGCTGTCCCCACGGGTACCATCTGCTAGTCAAAATCTTTTTATCTAACAACTAGATTCACACAGGAAGTTAATGCTCTTTCCAAGTCTCTGTCAAACCCTCCAATTAAACCAAAGAGAAAGTTTCATTAGTTACTACTAGCTCTAACACATTCTACACTTCCTCATTTAATTTCATAACACTGCTTTCATCTCCCTTGTATTCATTTTTGTGGCAAAGGACACTGGTTTTCCGTTTACTTTAAGGATATACGTTTTCCTTTCAAACGAAACCATTTTAAAATCCACTTGCTGTTTATGATTATGTTGTGATGTTTATGTCCATGAGCAGGAATCAGTTTAAGGGAGGAGAAAGACTGGCACAGATGTTAAGAGTAACAGCTCTGGAGTCCACGACCTCATCAAATTATAGCTCAATTAGTACAAACTGCCACCTCATGCAAGTGACAGCACTTGAATGCCTGAGTTTCTTTTTTCCTTTCTTCGTTTTTTTTTGTTGTTGTTGTAACTGTTGTTGTTGTTATTAGGTTTGGTTTTTTGTTTGTTTTGGGTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCAGGCTGGAGTGCAGTGGCGTGGTCCCAGCTCACTGTAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGCACCACCACATCAAGCTAATTTTTTCACATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGATATCATGATCCGCCCACCTCGGCCTCCAAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCGTTTTGTTTGTTTTATTGAAGAAGAAACTAGGATGGAAGCCCAGGTTTCTTATCTTCAAGATGTTGTTAATAATGCCCTTCCCCTTATGGGCTGTGGTGAGTTAACTTCCAAGTGCTTCCAAGAGAGCCTGGCCCTTGGTGAGCACTCAGTAACCTCTGACCATTACCAAGAAAATAGGACAAAAATCATAAAAGCAGCAGGAGAATCACTGATGTCAGAGAAGCACAGACCAAACCCTGCTCTGAAGACATCAGCCTCCTCCTGAGAGTAGGGCGGGGGTGTGACCCATCCCTACTGGCTCCAGCTCCCGCTATCCCAGGTGCCCACAGCCCTGCCAGTCCCAGGCCTCACCTATATAGTACTTCATCTCCGTGTCATGCTGGTTCATCAGCTCCAGCAGCCGCAGCTCAATCTGGGCCTGGTTCAGGAAAGCCTTTTTGTTCTTGATGATCTTGATGGCCACAAGCTCCTGGGTCTGATGATCATAGGCTTTCACCACCTGTTGGGGCAGGGCATGTCACGAAGAAAGGGGTGGGAGCAGGGCAGAGCCAGGCACCATTCTTCTCCCTCCAGGCAAGGAGACCCACCAAGAACACTATGCATACTTCGCAGCTGAGTGCGCACCATTAGTCAGGCGCTGGTGTAAACACTGGATGTGAAATAACATAACGACCTTATGTTGAGTCTTGTTATTTAAACTGTTTTACAGAAAAGGCGACTGAGGCACAGGGAAACTAAGTGGGCTAGGGTGAGTGGCCCAGCATGGGACTTGAAGCCACTGAACCACTGGGTGTGTGATCAATGTTAGTGGGGCCTTGGATCAGGGTGGTGGGGGGTGTCCCACACCTGGCCAAAGGAGCCTTTGCCAATGAGCGAGTCAATTTCGTAGCGCTCCAGCCAGCGCTCGCCACTGCGCACGATGTAGTCATGGTTGTCGTCATCATAACCAGGGTTCAGGACCTTCTTCTCCTTCTTGTTGCTCGAATCCTGGGGTGGCGCCTGCTGGGCCCGCCGCTTCTTCTTCGCATAGTATACCTGCCCAGCCAGCCAGCCAGGAGATGGGGACTGGTGAGTGACTCATGCCAGCAGACAAGACCCTCGGCACCCAGCCCAGGATCCCCCAGCCCCTGCCCACCTCATTGATGTGCTTGTAGGTCTTGATGAGGTCCACAGAGAGCTTACGCAGCGGGGCTGAGGTTGCATCCCGGAAGGCCAGGGGCAGCCTCCGAGGCAGTAGCCGCACATCAGGCAATACCTGCAGGGCAGGGTGAGGGGTGGGCACTGAGGACGTGCCTTCACCTCCGACCTCAAGAGGAAGAACTGTAAGGGCTGCTGGCACATCATGTATTTGGTTGCTGTCTGTATTTGTTCCACCTGTCTAGGAAAGAAACTCCCCCAGGGCTGAGACTTTCTCTTGTTCTTACTATACCTCCAGTGCCTACAGCAGGGCCTGGCACACAATGGATGCTCTTAGAGATCTGTGGTGTGAATGAGTGAACTCTGACCTTTCACCCCTCACCTTTACTCCTTTCTGAACCTCAGAGGGAGAGATCATATGGAAAACCTGGGCTCTGTTCCTCCCCATTCTTCACTTTGAAGCCAGCCATTTTGGGTACCCTCTGAAGTACCTCTATCTCAATTTACCCTCATCCCTTGGGCCTCAACCCATACTCCCACCAACTCTTTGCACAGTTCTTTCACCCCAAGGCTCTTGGATCTGGATCTGGCCCCTGGACCTCCCACTTCATCCTGCTTCAAGCTCTGCATGTCACTGCCTTCACTGCCTCTAGCCTTGGGAGAGCTTTGCCCTCACCACCCATGCCTGTTGGCCTCAAGACCCTTTAGACTCAACCCCCCTCCAAATTCACCCAATCCAGATCTTTCACTCTGAACTTTTCTTAGTAGCATTTATTGGGTATTTACTATGTGCCAGGCACCATTCTAAGTGTTTTACATGCATACCATTAACTCATTTAATCCTCACAACAACCCTGTGAAGTAGGTATCATTATTGGCCCCATTTCACAGAATGAGTTGAGTTCTCCAACTCAAGTATGGAGAACCTAAGGAATTTAACCACTGGGTCAGGATTTGAACCCAGCCTCTCCAAACCCTGACTCTGCCTGAAAACTCCTCTGTTATTTTCCAATCCCATGGGACCCATTATGTGCCCAGAAGAATGTCTTGGGCAACCACACTACCTTTTGGTCTGGAGACCTTTCTATCCCCAGCCTCCCCCTACCACCACGCAGGTGAGGAGCCAGCTGAACGCGTACCTGCGTGTGCTCCTGGGGCCCTGGGAAGCCAGAGAAGGGACCATGGCCCGGTGGGACGGCCATGGTGGGCTCAGAGGGCCGCAGGGGAGCGAGGCCTGGAGCGGGAGCCCGGCCGGGGGGCGCCTTCTTGCATCCTGCACCTCGGCTGCCACCGCCGCTGAGACCTGAGAGCAGACAGGAAGTGGGAAAACAACATGGAACAAGGGGATATGTGAATAGTGCCAGGCGGGGAAGAGTGGACATGAGAAAGACAGGGCACAGAGAGAAGAGGAAAAGGGCACAACGGAGCAGCAGATAGCAATGAAGAGAAGGGGCAGAGAAGTGGTAGCCAGGTGGGGGGGGATGGCACAGCAGTCCCTCGACAAATAATGATCAAGTAAATGATTAAGGCAGCACAAAGAGAACACATAAAAGACAATGATTGGGGGCCAAGCAGGGGTCGATATGAGCCATCACAGGGAAAGGAGGACAGGAAGACACCAATAATTCAGAGGAGGAAAAGAAAAAAGAAACCACAGACAGTATGCAGAGGAGTAGGCTTCATTCTTTTCTCACTACTCGTGGCCCTCCCCAGGGCCCCTAACACAAGATGCCACTTTCTGTAGTCTTCCCTGAACATCAGGATCTCAGCCCGTAGCACAGCCAGGGCCAATACTTTAAGATCTATCCTTCTCAGTAGATTCCCTCAACCCAGAGAACTCTAGGATTCCCAAACCACATG
Task1_train_27148
This genomic variant is located on Chromosome 19, within the AKT2 (AKT serine/threonine kinase 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Type 2 diabetes mellitus
TCTTCTCAGCCCCAGCTGGAGAGACCCCCCAACCAGAAGCGCAGATAGGAAACCCCTATGTAGGGTCCCAGGGAAAATCTCTCCAGCTGTACCTTTTCTCCTCACACCAGGCTTGCTCCCTCTCAAGGGCAGCCACACAGAGGCCCAGACTGACCTCTCGTCTGGAGAATCCACGTGGAAGGTCCTCTCGATGACTGTGGTCCACTGCAGGCAGCGTATGACAAAGGTGTTGGGTCGCGGCCTCTCGGTCTTCATCAGCTGGCATTCTGCAGGCAGAGGGAACAGACAGCAGGGGGCTGAGGGGATAGCCCTGCTAGCCTGCAGCCCAAAGTGCCCGAGCCACCTCCCACAGGCCTAGCCCCATGCTAGATGGTGCTGGGGACACTCTAGGGACTGAGACAGCCCTGGTCCTGTTCTCACAGGGCTCAGGGTCTAGTGTGTGTGTGTGTGGAAGGAGAGAAGCCCACCAGAGAGTGATGGCTCCATAGACAGGGCCGCGATGGGGACAAGCCTAGAGGTGTGCAGAAGCTCAGAGGTAGCATCCAACCCAGCCTGGGGGGTTGGGGGGCTTCCCAGAGGAAGCAGCTTCTCTGAACTAAGCCCTGAAGGAAAAGGGAACTTAGAGGGTACACGGAGAACAGACGCTCAGAGGTGAGAGGAGGTTCAACATCCTCAGGGGGTGGCCAATTCTGCTCCAAGGGTGAGGAGGGGTAAGTGAGAGACAGCCCTGGAGAGGTGGGCTGGGGCCAGCCAGGCAGGGCTTTGGAGGCCATGGGAAAGAATCTGGACTTTGTCCTCAGGGCAGCAGGGAGCCATAGAAGGCTTTAGATAGGGAAGAGACACAAACAGACTGAGAATGATCCCTCTGGCTGCCATGTAGAGGGTGAGGCTGGAGGTTGGAAGGCCAGGGAGGTGGGGAGCCAGCTAGGGAGGATGGGGCCACACCAGAGTGGAGCCCTGCAGACAGGCCATGGGAAGAGGGCACTGAGGACCAGGCCCAGGCCTCTCGGCCTGCTGTCCCTGAGACAGAGACAGGAATAGAGCTGGGAGAGGCCTGAAGGTCAGGTTGGGATGTGGCACTTATGAGGACCTTGAAGACACTTGGGGAGATGTGTCCAAGGAGCAGCCTGGGACAGGCTGGGAGTTCTAGTGAGACACTGAGGTTGGGAACAGATGTGTCAGGGTCACCAGCACATGTGGAGAGCAATCAGGAAAAGGCTTCATGCAGAGCAGCGTGGGACGGGGACTGGGTTCCACAGCATGGCAGGAGAGGATAGTGGTCTGAGCTAAGGCACTGGCAGTGGAGATGGGGGTGCCTCTGTAATGTTCTTAGCAGGCAGAACAACAGGACATGGTGACCCATCAGGTCAGCAAGGAAGGAAGGCGGCAGAAAGGGGCAGCGATGTGGACAGGACCATATTCTCCAAGGCTCAGTCAAGAGCTTGGGGCTTGTGAAACTTCACTGCCAGGGTCTGGCTGGAAGACATCCCTTTGGGTATTACAGAGGGACAGAGGACGCGAGGCCAGCCCTGTGACCAGCTGAGTGGGAAGCTGTGACCCCTCTACGTCCGAGGGACAGAGGATGGAGGCTGTTACCAAAGCACAGGATGGGAGGCACCTGCCACCAGTTGGGGACTCCAAGGCCTGGCTGACAGAAGCTGGAACCACAAGGAGGCGATGCATGGGGCTGGGTGTGGGCAAATGCCCTGGCTTCTCCCTCCCTCCCACTCTGCATCTCCCCGCAGGACAGCCCCGCCTGGCCAGCTAACAAGGAGGGAGAGCAGGGGAAGGGTGAAAACAGATCCAAGGGCAAGCAGGCCCAGGACAGGCCCATGGCTCAATGACCAAGTCCCACAAGCCCCTAAGACGTGCCAGCCATCCTGTGAGCACCAGAACACTGACCCACTCATCCCAAGACACACCTGCTACGGAGAAGTTGTTTAAGGGGGGTAGAGTCTGATCAGGGGCCTCGGGCCTCTCCTTGTACCCAATGAAGGAGCCGTCGCTCTTCAGCAGGAAGTACCGTGGCCTCCAGGTCTTGATGTATTCACCTGAAATGAGGCAGGAAGGGAGGGAGAGAGGTTAGGACAAGGTTGAGTGATGTCCCAGGTAGGCGGCAGGAGGCCCAGTGTGACGGTGACTCACAAGGGGTACCACGGGGCGGGGAGGTGCGGGGGACACACGAGAATGCCTCTCCCAGAGGAGCCCTCCAGGTGGCCCCTGCTGACGCAGGCTGGGGCACTGGGCTGAGCCCGGGTGATCCACAGGTCATGCCTGGCAGGAAGGTGCCAGCAGCAGTGCCCTGGGGCACCAGTTGCCTCAGCGTGTGGCAAGGAGCAAGCTGTCTGTGCCAGCTCCTGGCCTAGTCCCAGGGGAGGCCCAGGCTTCCAAACACACATGCCCTGTGGCCCTGTAAGGCCAAATCCCATGGGCTGGGATTCACCAATACAGCTGTGCAGGTAGCTCCAATGCCAAAACACTTCTGTGCCAGGCAGGGTGGCACTGCTGCCACACCCTCCCAGCGCCCCTTGACTCTTTCCAACTGTTCTTCACCATGAATATCCAAGCACCCTATGCACACAAACACACACACACACACACACACACACACACACACGAACCCACTCATCAGAGAGCTGCTAAGGATTAAAAGGAGATGGTGAAACACATCCACACAAAAACTTACACACAAATGTCCTCAACAGCATTATTCATAACAGCCATCGAGTGGAAACGACCCTAATGTCCATCAACAACGAATGGATAAACAAAATGTAGCAGATTCATACAACGGAAAACTATTCAGTCATAAAAAGAAACGAAGTACTGAGACATGCTGCCATGTGGAGGGACCGTAACTTATGCTAAGTGAAAGAAGCCAGTCACAAAGGACCACGTATCATTATGACTCCATTTATATAAAATGCCCAGAACAGGCAAATCTACAGAGATGAAAAGTAGGGCCCGGCACGGTGGCGCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCGAGCGGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGTGCATGCCTATAATCCCACTACTTGGGAGGCTGAGGCAGGAGACTCCTTGAACCTGGGAGGCAGAGGTTGCCGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCGAAAAAAAAAAAAAAAAAACAAAAAAAAAAACCTGAGTATGGTGATGGATGCACAACTCTGAACATACTAAAACCAACTGAACTGTATGCTTTAAATGGATGAATCATGTAGTACATCAGTTTTACCTCAACATGGCTATTAAACACCAGCACAGTGGCTCCCACCTGTAAAATCCTAGCACTTTGGGAGGCTGAGGCAGGCTTAAGTCTGGAGTTTGAGACGAGCCTGGGCAACATAGTGAGATCTGGTCTCCACAAAAAATGTTTTTTAATTAGCCAGGAGTCGTTGCGTGTGCCTGAAGTCCCAGCTACTCAGGAGGCCGAAATGGCAGAATCACCTGAGCTCAAGAAATTGAAGCTATGATGGTGCCACTGCAGTCCAGCCCAGTGACAGAGCAAGACCCTAGCTCTTAAAAAAAAAAAAAAAAAGCATTTACAAAAGCCTCCAAAAAAATACTTAACCAAGGGGGTGAAGGGCTTGTATACTACAAAACATTGTTTAAAGAAATTAGAGATCTACATAAATGCAAAAACATCCTGTGTGCATGGATTAGAAGACAATATTGTTAAGATGGCAATACTACCCAAAGCAATATACAGATTCAATGCAATCCCTATCAAAATTCCAACAGGCTTTTTCTTTTTTCAGAAATAGAAAAGCCAATCCTCACATTCACATGGAATTTCAAAGGGCCCCAAAGAGCCAAAATAATATTGAAAAAGAAAAATAAAGTTAAATACTTTCCAATTTCAAAATTTACTATACAAAGCTATAGTAATCAAAACAGTACAGTTTATACAGGACAGACATACAGACCAATGGAAGAGAATTCAGAGCCAAAAAATAAACCCAAA
TCTTCTCAGCCCCAGCTGGAGAGACCCCCCAACCAGAAGCGCAGATAGGAAACCCCTATGTAGGGTCCCAGGGAAAATCTCTCCAGCTGTACCTTTTCTCCTCACACCAGGCTTGCTCCCTCTCAAGGGCAGCCACACAGAGGCCCAGACTGACCTCTCGTCTGGAGAATCCACGTGGAAGGTCCTCTCGATGACTGTGGTCCACTGCAGGCAGCGTATGACAAAGGTGTTGGGTCGCGGCCTCTCGGTCTTCATCAGCTGGCATTCTGCAGGCAGAGGGAACAGACAGCAGGGGGCTGAGGGGATAGCCCTGCTAGCCTGCAGCCCAAAGTGCCCGAGCCACCTCCCACAGGCCTAGCCCCATGCTAGATGGTGCTGGGGACACTCTAGGGACTGAGACAGCCCTGGTCCTGTTCTCACAGGGCTCAGGGTCTAGTGTGTGTGTGTGTGGAAGGAGAGAAGCCCACCAGAGAGTGATGGCTCCATAGACAGGGCCGCGATGGGGACAAGCCTAGAGGTGTGCAGAAGCTCAGAGGTAGCATCCAACCCAGCCTGGGGGGTTGGGGGGCTTCCCAGAGGAAGCAGCTTCTCTGAACTAAGCCCTGAAGGAAAAGGGAACTTAGAGGGTACACGGAGAACAGACGCTCAGAGGTGAGAGGAGGTTCAACATCCTCAGGGGGTGGCCAATTCTGCTCCAAGGGTGAGGAGGGGTAAGTGAGAGACAGCCCTGGAGAGGTGGGCTGGGGCCAGCCAGGCAGGGCTTTGGAGGCCATGGGAAAGAATCTGGACTTTGTCCTCAGGGCAGCAGGGAGCCATAGAAGGCTTTAGATAGGGAAGAGACACAAACAGACTGAGAATGATCCCTCTGGCTGCCATGTAGAGGGTGAGGCTGGAGGTTGGAAGGCCAGGGAGGTGGGGAGCCAGCTAGGGAGGATGGGGCCACACCAGAGTGGAGCCCTGCAGACAGGCCATGGGAAGAGGGCACTGAGGACCAGGCCCAGGCCTCTCGGCCTGCTGTCCCTGAGACAGAGACAGGAATAGAGCTGGGAGAGGCCTGAAGGTCAGGTTGGGATGTGGCACTTATGAGGACCTTGAAGACACTTGGGGAGATGTGTCCAAGGAGCAGCCTGGGACAGGCTGGGAGTTCTAGTGAGACACTGAGGTTGGGAACAGATGTGTCAGGGTCACCAGCACATGTGGAGAGCAATCAGGAAAAGGCTTCATGCAGAGCAGCGTGGGACGGGGACTGGGTTCCACAGCATGGCAGGAGAGGATAGTGGTCTGAGCTAAGGCACTGGCAGTGGAGATGGGGGTGCCTCTGTAATGTTCTTAGCAGGCAGAACAACAGGACATGGTGACCCATCAGGTCAGCAAGGAAGGAAGGCGGCAGAAAGGGGCAGCGATGTGGACAGGACCATATTCTCCAAGGCTCAGTCAAGAGCTTGGGGCTTGTGAAACTTCACTGCCAGGGTCTGGCTGGAAGACATCCCTTTGGGTATTACAGAGGGACAGAGGACGCGAGGCCAGCCCTGTGACCAGCTGAGTGGGAAGCTGTGACCCCTCTACGTCCGAGGGACAGAGGATGGAGGCTGTTACCAAAGCACAGGATGGGAGGCACCTGCCACCAGTTGGGGACTCCAAGGCCTGGCTGACAGAAGCTGGAACCACAAGGAGGCGATGCATGGGGCTGGGTGTGGGCAAATGCCCTGGCTTCTCCCTCCCTCCCACTCTGCATCTCCCCGCAGGACAGCCCCGCCTGGCCAGCTAACAAGGAGGGAGAGCAGGGGAAGGGTGAAAACAGATCCAAGGGCAAGCAGGCCCAGGACAGGCCCATGGCTCAATGACCAAGTCCCACAAGCCCCTAAGACGTGCCAGCCATCCTGTGAGCACCAGAACACTGACCCACTCATCCCAAGACACACCTGCTACGGAGAAGTTGTTTAAGGGGGGTAGAGTCTGATCAGGGGCCTCGGGCCTCTCCTTGTACCCAATGAAGGAGCCGTCGCTCTTCAGCAGGAAGTACCGTGGCCTCCAGGTCTTGATGTATTTACCTGAAATGAGGCAGGAAGGGAGGGAGAGAGGTTAGGACAAGGTTGAGTGATGTCCCAGGTAGGCGGCAGGAGGCCCAGTGTGACGGTGACTCACAAGGGGTACCACGGGGCGGGGAGGTGCGGGGGACACACGAGAATGCCTCTCCCAGAGGAGCCCTCCAGGTGGCCCCTGCTGACGCAGGCTGGGGCACTGGGCTGAGCCCGGGTGATCCACAGGTCATGCCTGGCAGGAAGGTGCCAGCAGCAGTGCCCTGGGGCACCAGTTGCCTCAGCGTGTGGCAAGGAGCAAGCTGTCTGTGCCAGCTCCTGGCCTAGTCCCAGGGGAGGCCCAGGCTTCCAAACACACATGCCCTGTGGCCCTGTAAGGCCAAATCCCATGGGCTGGGATTCACCAATACAGCTGTGCAGGTAGCTCCAATGCCAAAACACTTCTGTGCCAGGCAGGGTGGCACTGCTGCCACACCCTCCCAGCGCCCCTTGACTCTTTCCAACTGTTCTTCACCATGAATATCCAAGCACCCTATGCACACAAACACACACACACACACACACACACACACACACACGAACCCACTCATCAGAGAGCTGCTAAGGATTAAAAGGAGATGGTGAAACACATCCACACAAAAACTTACACACAAATGTCCTCAACAGCATTATTCATAACAGCCATCGAGTGGAAACGACCCTAATGTCCATCAACAACGAATGGATAAACAAAATGTAGCAGATTCATACAACGGAAAACTATTCAGTCATAAAAAGAAACGAAGTACTGAGACATGCTGCCATGTGGAGGGACCGTAACTTATGCTAAGTGAAAGAAGCCAGTCACAAAGGACCACGTATCATTATGACTCCATTTATATAAAATGCCCAGAACAGGCAAATCTACAGAGATGAAAAGTAGGGCCCGGCACGGTGGCGCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCGAGCGGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGTGCATGCCTATAATCCCACTACTTGGGAGGCTGAGGCAGGAGACTCCTTGAACCTGGGAGGCAGAGGTTGCCGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCGAAAAAAAAAAAAAAAAAACAAAAAAAAAAACCTGAGTATGGTGATGGATGCACAACTCTGAACATACTAAAACCAACTGAACTGTATGCTTTAAATGGATGAATCATGTAGTACATCAGTTTTACCTCAACATGGCTATTAAACACCAGCACAGTGGCTCCCACCTGTAAAATCCTAGCACTTTGGGAGGCTGAGGCAGGCTTAAGTCTGGAGTTTGAGACGAGCCTGGGCAACATAGTGAGATCTGGTCTCCACAAAAAATGTTTTTTAATTAGCCAGGAGTCGTTGCGTGTGCCTGAAGTCCCAGCTACTCAGGAGGCCGAAATGGCAGAATCACCTGAGCTCAAGAAATTGAAGCTATGATGGTGCCACTGCAGTCCAGCCCAGTGACAGAGCAAGACCCTAGCTCTTAAAAAAAAAAAAAAAAAGCATTTACAAAAGCCTCCAAAAAAATACTTAACCAAGGGGGTGAAGGGCTTGTATACTACAAAACATTGTTTAAAGAAATTAGAGATCTACATAAATGCAAAAACATCCTGTGTGCATGGATTAGAAGACAATATTGTTAAGATGGCAATACTACCCAAAGCAATATACAGATTCAATGCAATCCCTATCAAAATTCCAACAGGCTTTTTCTTTTTTCAGAAATAGAAAAGCCAATCCTCACATTCACATGGAATTTCAAAGGGCCCCAAAGAGCCAAAATAATATTGAAAAAGAAAAATAAAGTTAAATACTTTCCAATTTCAAAATTTACTATACAAAGCTATAGTAATCAAAACAGTACAGTTTATACAGGACAGACATACAGACCAATGGAAGAGAATTCAGAGCCAAAAAATAAACCCAAA
Task1_train_27149
A variant affecting Chromosome 19, within the gene AKT2 (AKT serine/threonine kinase 2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Hypoinsulinemic hypoglycemia and body hemihypertrophy
TCTTCTCAGCCCCAGCTGGAGAGACCCCCCAACCAGAAGCGCAGATAGGAAACCCCTATGTAGGGTCCCAGGGAAAATCTCTCCAGCTGTACCTTTTCTCCTCACACCAGGCTTGCTCCCTCTCAAGGGCAGCCACACAGAGGCCCAGACTGACCTCTCGTCTGGAGAATCCACGTGGAAGGTCCTCTCGATGACTGTGGTCCACTGCAGGCAGCGTATGACAAAGGTGTTGGGTCGCGGCCTCTCGGTCTTCATCAGCTGGCATTCTGCAGGCAGAGGGAACAGACAGCAGGGGGCTGAGGGGATAGCCCTGCTAGCCTGCAGCCCAAAGTGCCCGAGCCACCTCCCACAGGCCTAGCCCCATGCTAGATGGTGCTGGGGACACTCTAGGGACTGAGACAGCCCTGGTCCTGTTCTCACAGGGCTCAGGGTCTAGTGTGTGTGTGTGTGGAAGGAGAGAAGCCCACCAGAGAGTGATGGCTCCATAGACAGGGCCGCGATGGGGACAAGCCTAGAGGTGTGCAGAAGCTCAGAGGTAGCATCCAACCCAGCCTGGGGGGTTGGGGGGCTTCCCAGAGGAAGCAGCTTCTCTGAACTAAGCCCTGAAGGAAAAGGGAACTTAGAGGGTACACGGAGAACAGACGCTCAGAGGTGAGAGGAGGTTCAACATCCTCAGGGGGTGGCCAATTCTGCTCCAAGGGTGAGGAGGGGTAAGTGAGAGACAGCCCTGGAGAGGTGGGCTGGGGCCAGCCAGGCAGGGCTTTGGAGGCCATGGGAAAGAATCTGGACTTTGTCCTCAGGGCAGCAGGGAGCCATAGAAGGCTTTAGATAGGGAAGAGACACAAACAGACTGAGAATGATCCCTCTGGCTGCCATGTAGAGGGTGAGGCTGGAGGTTGGAAGGCCAGGGAGGTGGGGAGCCAGCTAGGGAGGATGGGGCCACACCAGAGTGGAGCCCTGCAGACAGGCCATGGGAAGAGGGCACTGAGGACCAGGCCCAGGCCTCTCGGCCTGCTGTCCCTGAGACAGAGACAGGAATAGAGCTGGGAGAGGCCTGAAGGTCAGGTTGGGATGTGGCACTTATGAGGACCTTGAAGACACTTGGGGAGATGTGTCCAAGGAGCAGCCTGGGACAGGCTGGGAGTTCTAGTGAGACACTGAGGTTGGGAACAGATGTGTCAGGGTCACCAGCACATGTGGAGAGCAATCAGGAAAAGGCTTCATGCAGAGCAGCGTGGGACGGGGACTGGGTTCCACAGCATGGCAGGAGAGGATAGTGGTCTGAGCTAAGGCACTGGCAGTGGAGATGGGGGTGCCTCTGTAATGTTCTTAGCAGGCAGAACAACAGGACATGGTGACCCATCAGGTCAGCAAGGAAGGAAGGCGGCAGAAAGGGGCAGCGATGTGGACAGGACCATATTCTCCAAGGCTCAGTCAAGAGCTTGGGGCTTGTGAAACTTCACTGCCAGGGTCTGGCTGGAAGACATCCCTTTGGGTATTACAGAGGGACAGAGGACGCGAGGCCAGCCCTGTGACCAGCTGAGTGGGAAGCTGTGACCCCTCTACGTCCGAGGGACAGAGGATGGAGGCTGTTACCAAAGCACAGGATGGGAGGCACCTGCCACCAGTTGGGGACTCCAAGGCCTGGCTGACAGAAGCTGGAACCACAAGGAGGCGATGCATGGGGCTGGGTGTGGGCAAATGCCCTGGCTTCTCCCTCCCTCCCACTCTGCATCTCCCCGCAGGACAGCCCCGCCTGGCCAGCTAACAAGGAGGGAGAGCAGGGGAAGGGTGAAAACAGATCCAAGGGCAAGCAGGCCCAGGACAGGCCCATGGCTCAATGACCAAGTCCCACAAGCCCCTAAGACGTGCCAGCCATCCTGTGAGCACCAGAACACTGACCCACTCATCCCAAGACACACCTGCTACGGAGAAGTTGTTTAAGGGGGGTAGAGTCTGATCAGGGGCCTCGGGCCTCTCCTTGTACCCAATGAAGGAGCCGTCGCTCTTCAGCAGGAAGTACCGTGGCCTCCAGGTCTTGATGTATTCACCTGAAATGAGGCAGGAAGGGAGGGAGAGAGGTTAGGACAAGGTTGAGTGATGTCCCAGGTAGGCGGCAGGAGGCCCAGTGTGACGGTGACTCACAAGGGGTACCACGGGGCGGGGAGGTGCGGGGGACACACGAGAATGCCTCTCCCAGAGGAGCCCTCCAGGTGGCCCCTGCTGACGCAGGCTGGGGCACTGGGCTGAGCCCGGGTGATCCACAGGTCATGCCTGGCAGGAAGGTGCCAGCAGCAGTGCCCTGGGGCACCAGTTGCCTCAGCGTGTGGCAAGGAGCAAGCTGTCTGTGCCAGCTCCTGGCCTAGTCCCAGGGGAGGCCCAGGCTTCCAAACACACATGCCCTGTGGCCCTGTAAGGCCAAATCCCATGGGCTGGGATTCACCAATACAGCTGTGCAGGTAGCTCCAATGCCAAAACACTTCTGTGCCAGGCAGGGTGGCACTGCTGCCACACCCTCCCAGCGCCCCTTGACTCTTTCCAACTGTTCTTCACCATGAATATCCAAGCACCCTATGCACACAAACACACACACACACACACACACACACACACACACGAACCCACTCATCAGAGAGCTGCTAAGGATTAAAAGGAGATGGTGAAACACATCCACACAAAAACTTACACACAAATGTCCTCAACAGCATTATTCATAACAGCCATCGAGTGGAAACGACCCTAATGTCCATCAACAACGAATGGATAAACAAAATGTAGCAGATTCATACAACGGAAAACTATTCAGTCATAAAAAGAAACGAAGTACTGAGACATGCTGCCATGTGGAGGGACCGTAACTTATGCTAAGTGAAAGAAGCCAGTCACAAAGGACCACGTATCATTATGACTCCATTTATATAAAATGCCCAGAACAGGCAAATCTACAGAGATGAAAAGTAGGGCCCGGCACGGTGGCGCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCGAGCGGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGTGCATGCCTATAATCCCACTACTTGGGAGGCTGAGGCAGGAGACTCCTTGAACCTGGGAGGCAGAGGTTGCCGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCGAAAAAAAAAAAAAAAAAACAAAAAAAAAAACCTGAGTATGGTGATGGATGCACAACTCTGAACATACTAAAACCAACTGAACTGTATGCTTTAAATGGATGAATCATGTAGTACATCAGTTTTACCTCAACATGGCTATTAAACACCAGCACAGTGGCTCCCACCTGTAAAATCCTAGCACTTTGGGAGGCTGAGGCAGGCTTAAGTCTGGAGTTTGAGACGAGCCTGGGCAACATAGTGAGATCTGGTCTCCACAAAAAATGTTTTTTAATTAGCCAGGAGTCGTTGCGTGTGCCTGAAGTCCCAGCTACTCAGGAGGCCGAAATGGCAGAATCACCTGAGCTCAAGAAATTGAAGCTATGATGGTGCCACTGCAGTCCAGCCCAGTGACAGAGCAAGACCCTAGCTCTTAAAAAAAAAAAAAAAAAGCATTTACAAAAGCCTCCAAAAAAATACTTAACCAAGGGGGTGAAGGGCTTGTATACTACAAAACATTGTTTAAAGAAATTAGAGATCTACATAAATGCAAAAACATCCTGTGTGCATGGATTAGAAGACAATATTGTTAAGATGGCAATACTACCCAAAGCAATATACAGATTCAATGCAATCCCTATCAAAATTCCAACAGGCTTTTTCTTTTTTCAGAAATAGAAAAGCCAATCCTCACATTCACATGGAATTTCAAAGGGCCCCAAAGAGCCAAAATAATATTGAAAAAGAAAAATAAAGTTAAATACTTTCCAATTTCAAAATTTACTATACAAAGCTATAGTAATCAAAACAGTACAGTTTATACAGGACAGACATACAGACCAATGGAAGAGAATTCAGAGCCAAAAAATAAACCCAAA
TCTTCTCAGCCCCAGCTGGAGAGACCCCCCAACCAGAAGCGCAGATAGGAAACCCCTATGTAGGGTCCCAGGGAAAATCTCTCCAGCTGTACCTTTTCTCCTCACACCAGGCTTGCTCCCTCTCAAGGGCAGCCACACAGAGGCCCAGACTGACCTCTCGTCTGGAGAATCCACGTGGAAGGTCCTCTCGATGACTGTGGTCCACTGCAGGCAGCGTATGACAAAGGTGTTGGGTCGCGGCCTCTCGGTCTTCATCAGCTGGCATTCTGCAGGCAGAGGGAACAGACAGCAGGGGGCTGAGGGGATAGCCCTGCTAGCCTGCAGCCCAAAGTGCCCGAGCCACCTCCCACAGGCCTAGCCCCATGCTAGATGGTGCTGGGGACACTCTAGGGACTGAGACAGCCCTGGTCCTGTTCTCACAGGGCTCAGGGTCTAGTGTGTGTGTGTGTGGAAGGAGAGAAGCCCACCAGAGAGTGATGGCTCCATAGACAGGGCCGCGATGGGGACAAGCCTAGAGGTGTGCAGAAGCTCAGAGGTAGCATCCAACCCAGCCTGGGGGGTTGGGGGGCTTCCCAGAGGAAGCAGCTTCTCTGAACTAAGCCCTGAAGGAAAAGGGAACTTAGAGGGTACACGGAGAACAGACGCTCAGAGGTGAGAGGAGGTTCAACATCCTCAGGGGGTGGCCAATTCTGCTCCAAGGGTGAGGAGGGGTAAGTGAGAGACAGCCCTGGAGAGGTGGGCTGGGGCCAGCCAGGCAGGGCTTTGGAGGCCATGGGAAAGAATCTGGACTTTGTCCTCAGGGCAGCAGGGAGCCATAGAAGGCTTTAGATAGGGAAGAGACACAAACAGACTGAGAATGATCCCTCTGGCTGCCATGTAGAGGGTGAGGCTGGAGGTTGGAAGGCCAGGGAGGTGGGGAGCCAGCTAGGGAGGATGGGGCCACACCAGAGTGGAGCCCTGCAGACAGGCCATGGGAAGAGGGCACTGAGGACCAGGCCCAGGCCTCTCGGCCTGCTGTCCCTGAGACAGAGACAGGAATAGAGCTGGGAGAGGCCTGAAGGTCAGGTTGGGATGTGGCACTTATGAGGACCTTGAAGACACTTGGGGAGATGTGTCCAAGGAGCAGCCTGGGACAGGCTGGGAGTTCTAGTGAGACACTGAGGTTGGGAACAGATGTGTCAGGGTCACCAGCACATGTGGAGAGCAATCAGGAAAAGGCTTCATGCAGAGCAGCGTGGGACGGGGACTGGGTTCCACAGCATGGCAGGAGAGGATAGTGGTCTGAGCTAAGGCACTGGCAGTGGAGATGGGGGTGCCTCTGTAATGTTCTTAGCAGGCAGAACAACAGGACATGGTGACCCATCAGGTCAGCAAGGAAGGAAGGCGGCAGAAAGGGGCAGCGATGTGGACAGGACCATATTCTCCAAGGCTCAGTCAAGAGCTTGGGGCTTGTGAAACTTCACTGCCAGGGTCTGGCTGGAAGACATCCCTTTGGGTATTACAGAGGGACAGAGGACGCGAGGCCAGCCCTGTGACCAGCTGAGTGGGAAGCTGTGACCCCTCTACGTCCGAGGGACAGAGGATGGAGGCTGTTACCAAAGCACAGGATGGGAGGCACCTGCCACCAGTTGGGGACTCCAAGGCCTGGCTGACAGAAGCTGGAACCACAAGGAGGCGATGCATGGGGCTGGGTGTGGGCAAATGCCCTGGCTTCTCCCTCCCTCCCACTCTGCATCTCCCCGCAGGACAGCCCCGCCTGGCCAGCTAACAAGGAGGGAGAGCAGGGGAAGGGTGAAAACAGATCCAAGGGCAAGCAGGCCCAGGACAGGCCCATGGCTCAATGACCAAGTCCCACAAGCCCCTAAGACGTGCCAGCCATCCTGTGAGCACCAGAACACTGACCCACTCATCCCAAGACACACCTGCTACGGAGAAGTTGTTTAAGGGGGGTAGAGTCTGATCAGGGGCCTCGGGCCTCTCCTTGTACCCAATGAAGGAGCCGTCGCTCTTCAGCAGGAAGTACCGTGGCCTCCAGGTCTTGATGTATTTACCTGAAATGAGGCAGGAAGGGAGGGAGAGAGGTTAGGACAAGGTTGAGTGATGTCCCAGGTAGGCGGCAGGAGGCCCAGTGTGACGGTGACTCACAAGGGGTACCACGGGGCGGGGAGGTGCGGGGGACACACGAGAATGCCTCTCCCAGAGGAGCCCTCCAGGTGGCCCCTGCTGACGCAGGCTGGGGCACTGGGCTGAGCCCGGGTGATCCACAGGTCATGCCTGGCAGGAAGGTGCCAGCAGCAGTGCCCTGGGGCACCAGTTGCCTCAGCGTGTGGCAAGGAGCAAGCTGTCTGTGCCAGCTCCTGGCCTAGTCCCAGGGGAGGCCCAGGCTTCCAAACACACATGCCCTGTGGCCCTGTAAGGCCAAATCCCATGGGCTGGGATTCACCAATACAGCTGTGCAGGTAGCTCCAATGCCAAAACACTTCTGTGCCAGGCAGGGTGGCACTGCTGCCACACCCTCCCAGCGCCCCTTGACTCTTTCCAACTGTTCTTCACCATGAATATCCAAGCACCCTATGCACACAAACACACACACACACACACACACACACACACACACGAACCCACTCATCAGAGAGCTGCTAAGGATTAAAAGGAGATGGTGAAACACATCCACACAAAAACTTACACACAAATGTCCTCAACAGCATTATTCATAACAGCCATCGAGTGGAAACGACCCTAATGTCCATCAACAACGAATGGATAAACAAAATGTAGCAGATTCATACAACGGAAAACTATTCAGTCATAAAAAGAAACGAAGTACTGAGACATGCTGCCATGTGGAGGGACCGTAACTTATGCTAAGTGAAAGAAGCCAGTCACAAAGGACCACGTATCATTATGACTCCATTTATATAAAATGCCCAGAACAGGCAAATCTACAGAGATGAAAAGTAGGGCCCGGCACGGTGGCGCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGCGAGCGGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGTGCATGCCTATAATCCCACTACTTGGGAGGCTGAGGCAGGAGACTCCTTGAACCTGGGAGGCAGAGGTTGCCGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCGAAAAAAAAAAAAAAAAAACAAAAAAAAAAACCTGAGTATGGTGATGGATGCACAACTCTGAACATACTAAAACCAACTGAACTGTATGCTTTAAATGGATGAATCATGTAGTACATCAGTTTTACCTCAACATGGCTATTAAACACCAGCACAGTGGCTCCCACCTGTAAAATCCTAGCACTTTGGGAGGCTGAGGCAGGCTTAAGTCTGGAGTTTGAGACGAGCCTGGGCAACATAGTGAGATCTGGTCTCCACAAAAAATGTTTTTTAATTAGCCAGGAGTCGTTGCGTGTGCCTGAAGTCCCAGCTACTCAGGAGGCCGAAATGGCAGAATCACCTGAGCTCAAGAAATTGAAGCTATGATGGTGCCACTGCAGTCCAGCCCAGTGACAGAGCAAGACCCTAGCTCTTAAAAAAAAAAAAAAAAAGCATTTACAAAAGCCTCCAAAAAAATACTTAACCAAGGGGGTGAAGGGCTTGTATACTACAAAACATTGTTTAAAGAAATTAGAGATCTACATAAATGCAAAAACATCCTGTGTGCATGGATTAGAAGACAATATTGTTAAGATGGCAATACTACCCAAAGCAATATACAGATTCAATGCAATCCCTATCAAAATTCCAACAGGCTTTTTCTTTTTTCAGAAATAGAAAAGCCAATCCTCACATTCACATGGAATTTCAAAGGGCCCCAAAGAGCCAAAATAATATTGAAAAAGAAAAATAAAGTTAAATACTTTCCAATTTCAAAATTTACTATACAAAGCTATAGTAATCAAAACAGTACAGTTTATACAGGACAGACATACAGACCAATGGAAGAGAATTCAGAGCCAAAAAATAAACCCAAA
Task1_train_27150
A variant was discovered on Chromosome 19, affecting LOC130064467, SPTBN4 (ATAC-STARR-seq lymphoblastoid silent region 10632| spectrin beta, non-erythrocytic 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
TTATCACAATTCTCTCAGCAGCCTTATGAAGTGGGGGCTGTTGTCTTCTCCATTGTATGACTAGGGCAACTGAGGCACAAAAAGGGCAAGTCACTCAGCTTAAACGAACCAGGACTTTCAGAATCCAGAGTTGGCCAGTGTGTGTTGTGCAGATCTGTCCAGTCAGCTGAGTGTGTCTCCAGAAAGAGGCCTTTGGTCAGGAGACAATGACTTCTTGATTCTTTTTAAATTGCACATTTCATGAACATTTGCTGAGTGCCCACTCTGCCTGGCATGTGCTGAGTCGAGCGGTGACTGAACCAGTCCCATCCCTGACTTTAGAGACTCACAGTCCATTGGGAAAAACAGGCTTGTCATCAATGATGACCGAGAATTATCTGGGCTGGAATGGGGGCGATTGGGGGACTGGAGAGTCAGGGGTGGGTGGAGAAAGGCAACGTTTGCAAGTTGTTCTTTGTGCTGCTTAAAATTCAAAGGGGCATCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCGAGACCAACCTGGCCAATATAGCAAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCGGCATGGTGGCGCACGCCTGTAGTACCAGCTACTTGGGAGGCTGAGGCAGGGGAATCGCTTCAACACAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCACCACTACACTCCAGCCTGGGCAACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATTCAAAGGGGCGAGAGGTTTGGTCTTCCATTCAGCAGACACGTCCCAAACACCTGTGGTACCTAAGGCGAGCATCTGAGAGAAACAGCTGCAGAAGTGGGCAGGGGCCTGGCACTTCCAGCTAAGAAGTGGAGGCTCCTCTGCCCAGCCAGACAGGTCCATGGGAGAAGGAACCCTGGTTTCACTGGGTCTTTCTGTCCCCCATCCCCCAGGAAGGCCACCCTGGCTGACATTGTGGAACAGCTGCAGGAGAAAGAGGCAGGCCCAGGGCTGCCTGCTGGGGTAAGTTGAGCCTCGGATGGGTGGGGATAGGAGGACCCCTTTTTCAGAGCAGGAGGCAGGATCTCAGAAACAGCCAGTGCCTAGCCCTGGCAGGACCCATTCCCTACCTGGACCCTGCAGAGACAGCATGGACTCTCAGGGTCCCCAGAATCTGAAAATGTCCCCCTTAGAAAGACGGGGCACCTACCTAAGAGACCCCTACTGCCCCTCCACACACACACACACACACACACACACACACACACACAGACACACACACACAGACACACACACACAGACACACAGACACAGATACACACACAGACACACACACACAGACTCTTCCCACATCTGTCCTGGACTCCGTATTTCTTCAGCTCAGTGGGGTCCCAAATTTCTTCATAGCCTCATACACACACACACAGAAGGAAGCCCCAGGTTTCTCCTGCAGACAGTGGGGACACGCCCTGCTTGCACCCCCACCTCCAGAGATCTGGCTGCCTCTTTCCACCACCGAGAGAGATTCCAAACCAATGAGTCCTAACAGACTCACTCCCAAGACCCATGGGGCCCTAAGAATTGGGCCTCCAACCCTGAGGTCCTCCCATACTCGCCTCCGAGACAAATGGCCCTGTAGACAGATGGGACCCCAGACCCATGACTCCCCCAAACAGATGACCCCCACACCCTCTCCATGGACAGCACCCCTCTTCCCCCTCCCTTCACACAGCCGTCGCTGCCTCAGCCACGCGAGCTTCCCCCAGGTCGCCTGCCCAACGGGCTTGAGCTGCCCGAGCGGACACCTCGGCCGGACCGGCCCCGGGCGCGGGACCGGCCCAAGCCGCGACGGCGGCCGCGGCCCAGAGAGGGTGGTGAGGGCGGGGGAAGCCGGCGCTCGCGCTCCGCCCCGGCCCAGGGCGGCTCCGCCCCCGCGCCTCCGCCACCGCCCACTCACACAGTGCAGCACGAGGGCTTCCTACTGCGCAAGCGCGAGCTCGACGCTAACCGCAAGTCGTCCAACCGGTGAGCGTGTGGGCGGGGCTTTGGAAGGCGGGTCTCAGGCTCAGGGTGACCATTGCGTGGAGCGGTGGGACTGAGGAGGGGGTGTGGCTCAACTTCAGGCCCTCCAGCAGGTGGCGGTAGTAGGTGGGGCCAGAGCTGGGGGGTGGTGGTGGCTTAAATCAAGAAAGCCAACCAATGAGCAGGAGGGGGTGTGGTTTAACGTCAGGCCCTCCAACCCGTGGGGGTAGTAGGTGGGGCCAGATGAGGGGTGGGGCTCAACTTTGATGATTCCAACCAATGAACAGGAAGGGGCAGGACCTAAGGTTAGTGCATCTAATGGATGATGGGTAGAGCTTAGGTGGGAACAGAAGGAAAATGTTCTGAAAGTGAGTAAATTGGAACCTAACCTCTTAGCAACCAACCCAGGAGTTGATCAGCTAAATAGCAAAGAGGGAGGCATCTAGTTGAGAAGGTTTCAATGGCTTGTCGTGGAGCTTGGAGAGGTCACTCAACCAATGAGTGGGGTGGGTCTACCCTTGAAGTTTCAAATTGGGGGAGGGTCCGAAAACGGGCAGAGCCCAAACTAATGAGGGTAGGGGTTGGGAAGGGGGAGTCATCTCTTACAGGTTTCCAAATGAGGGTCTAGCCATGATGTGCCTGCTCTTGGGGAGTCCAGCTCCTGCTTGTCCACCCTCTTTTTGTCCAACTGAGAGGCAGAATCTGGGGACAAGTGGAGCCAAAAAGGGGTATCACCGGCCAGTAATGGAGTGAGTCCCAAGATATGAAGTGGGCAGGACAGATTCAGATTTTGCTAGTGGAATCTGTAGGTGGTCTTTCTTCCTCGTACCTAATGCCAAGGTAGGAATAAACAAGGGCACCTAGTATGTTTTGCTTTGGGAGGGATTCCTCCAGGATCGAGGCTTTGGATGACTGGAGAGACAGGAATTCTTTATTCCAGACAGTAGACCAATAGACTTTCCTTGAGAAAGCTCCATGAGTGGGGAGGATTGAGTGGAGCAAAGGCTTATGGAGGAGACAGCTTAAGACTTACCTTCAGGAAATTCAGTATGGGAGGGGATAAGGAAGGGAAATCTCAGCCTGGGCAAAGGCTTGATACTGAGAGACTTAAATGCTCCCCTCAGGGCAGCAACAGCCTTAAGGAAGAGCATTTTAGGTCCAACTAGGGCGCAACTAGGGCGCAAAGGTCCAGAGGTAGGAAGGCTCAGACATATTCAGACCTTGAGGATGTTAATGAAGAGTTATTAGGCAGAGTGCTGCGGCTCTGCCTTGAGCCCCATCTTGTCGCTCCAGGTCGTGGGTGAGCCTGTACTGTGTGCTTAGTAAGGGGGAACTGGGCTTCTACAAGGACTCCAAGGGCCCGGCATCCGGGAGCACACACGGTGGGGAACCGCTGCTCAGCCTGCACAAGGCCACCAGCGAGGTGGCTAGTGACTACAAGAAAAAGAAGCATGTCTTCAAGCTCCAGTGAGCCCCCCAATGGGCAGGAGGGAGGGATCCAAGGCTCAGCTTCAACTCCCAGTGGGACCCTGGCTTCCCTGGGGGACACTTGGTGGGCAGGTGGGCTGGGCCCCTTCCCCAGATCTCTGAAGTCCTGTGTCCCTTCCTGCAGGACCCAGGATGGCAGTGAGTTTTTGCTCCAGGCAAAAGATGAGGTGAGATCTGGTCCTTTCCTCCCTCTGTGTGGACCTCAGTAATGACCTGGCTGTCTGGCTCCTGACCCAGAGTGATGGGGCTGTGAGAAGGGACACTCACAGGCCAGAGTTATCAGGGCTGTAATGGGAAAGCCCACAGGCACTGAGAGCCCAAAGGAGGTTCCTAACCCAGTGGGGAGTGGGAAGGGCTTCAGGGAGGGCTGCCTGCAGATCCTGATGACAAAGTCCAACATCTTTGCCGTGGTCACTCAGGTGAGACTGGAATGGAGGGAGTTCGCTTTAAAAAGGGGTGATTTGGCCAGGCGCGGTGGCTCACGCTTGTAATCCCAGTACTTTGGGAGGCCAAGACGGGCAGATCACCTGAGGTCAGGAGTTTGAG
TTATCACAATTCTCTCAGCAGCCTTATGAAGTGGGGGCTGTTGTCTTCTCCATTGTATGACTAGGGCAACTGAGGCACAAAAAGGGCAAGTCACTCAGCTTAAACGAACCAGGACTTTCAGAATCCAGAGTTGGCCAGTGTGTGTTGTGCAGATCTGTCCAGTCAGCTGAGTGTGTCTCCAGAAAGAGGCCTTTGGTCAGGAGACAATGACTTCTTGATTCTTTTTAAATTGCACATTTCATGAACATTTGCTGAGTGCCCACTCTGCCTGGCATGTGCTGAGTCGAGCGGTGACTGAACCAGTCCCATCCCTGACTTTAGAGACTCACAGTCCATTGGGAAAAACAGGCTTGTCATCAATGATGACCGAGAATTATCTGGGCTGGAATGGGGGCGATTGGGGGACTGGAGAGTCAGGGGTGGGTGGAGAAAGGCAACGTTTGCAAGTTGTTCTTTGTGCTGCTTAAAATTCAAAGGGGCATCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGAAGTTCGAGACCAACCTGGCCAATATAGCAAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCGGCATGGTGGCGCACGCCTGTAGTACCAGCTACTTGGGAGGCTGAGGCAGGGGAATCGCTTCAACACAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCACCACTACACTCCAGCCTGGGCAACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATTCAAAGGGGCGAGAGGTTTGGTCTTCCATTCAGCAGACACGTCCCAAACACCTGTGGTACCTAAGGCGAGCATCTGAGAGAAACAGCTGCAGAAGTGGGCAGGGGCCTGGCACTTCCAGCTAAGAAGTGGAGGCTCCTCTGCCCAGCCAGACAGGTCCATGGGAGAAGGAACCCTGGTTTCACTGGGTCTTTCTGTCCCCCATCCCCCAGGAAGGCCACCCTGGCTGACATTGTGGAACAGCTGCAGGAGAAAGAGGCAGGCCCAGGGCTGCCTGCTGGGGTAAGTTGAGCCTCGGATGGGTGGGGATAGGAGGACCCCTTTTTCAGAGCAGGAGGCAGGATCTCAGAAACAGCCAGTGCCTAGCCCTGGCAGGACCCATTCCCTACCTGGACCCTGCAGAGACAGCATGGACTCTCAGGGTCCCCAGAATCTGAAAATGTCCCCCTTAGAAAGACGGGGCACCTACCTAAGAGACCCCTACTGCCCCTCCACACACACACACACACACACACACACACACACACACAGACACACACACACAGACACACACACACAGACACACAGACACAGATACACACACAGACACACACACACAGACTCTTCCCACATCTGTCCTGGACTCCGTATTTCTTCAGCTCAGTGGGGTCCCAAATTTCTTCATAGCCTCATACACACACACACAGAAGGAAGCCCCAGGTTTCTCCTGCAGACAGTGGGGACACGCCCTGCTTGCACCCCCACCTCCAGAGATCTGGCTGCCTCTTTCCACCACCGAGAGAGATTCCAAACCAATGAGTCCTAACAGACTCACTCCCAAGACCCATGGGGCCCTAAGAATTGGGCCTCCAACCCTGAGGTCCTCCCATACTCGCCTCCGAGACAAATGGCCCTGTAGACAGATGGGACCCCAGACCCATGACTCCCCCAAACAGATGACCCCCACACCCTCTCCATGGACAGCACCCCTCTTCCCCCTCCCTTCACACAGCCGTCGCTGCCTCAGCCACGCGAGCTTCCCCCAGGTCGCCTGCCCAACGGGCTTGAGCTGCCCGAGCGGACACCTCGGCCGGACCGGCCCCGGGCGCGGGACCGGCCCAAGCCGCGACGGCGGCCGCGGCCCAGAGAGGGTGGTGAGGGCGGGGGAAGCCGGCGCTCGCGCTCCGCCCCGGCCCAGGGCGGCTCCGCCCCCGCGCCTCCGCCACCGCCCACTCACACAGTGCAGCACGAGGGCTTCCTACTGCGCAAGCGCGAGCTCGACGCTAACTGCAAGTCGTCCAACCGGTGAGCGTGTGGGCGGGGCTTTGGAAGGCGGGTCTCAGGCTCAGGGTGACCATTGCGTGGAGCGGTGGGACTGAGGAGGGGGTGTGGCTCAACTTCAGGCCCTCCAGCAGGTGGCGGTAGTAGGTGGGGCCAGAGCTGGGGGGTGGTGGTGGCTTAAATCAAGAAAGCCAACCAATGAGCAGGAGGGGGTGTGGTTTAACGTCAGGCCCTCCAACCCGTGGGGGTAGTAGGTGGGGCCAGATGAGGGGTGGGGCTCAACTTTGATGATTCCAACCAATGAACAGGAAGGGGCAGGACCTAAGGTTAGTGCATCTAATGGATGATGGGTAGAGCTTAGGTGGGAACAGAAGGAAAATGTTCTGAAAGTGAGTAAATTGGAACCTAACCTCTTAGCAACCAACCCAGGAGTTGATCAGCTAAATAGCAAAGAGGGAGGCATCTAGTTGAGAAGGTTTCAATGGCTTGTCGTGGAGCTTGGAGAGGTCACTCAACCAATGAGTGGGGTGGGTCTACCCTTGAAGTTTCAAATTGGGGGAGGGTCCGAAAACGGGCAGAGCCCAAACTAATGAGGGTAGGGGTTGGGAAGGGGGAGTCATCTCTTACAGGTTTCCAAATGAGGGTCTAGCCATGATGTGCCTGCTCTTGGGGAGTCCAGCTCCTGCTTGTCCACCCTCTTTTTGTCCAACTGAGAGGCAGAATCTGGGGACAAGTGGAGCCAAAAAGGGGTATCACCGGCCAGTAATGGAGTGAGTCCCAAGATATGAAGTGGGCAGGACAGATTCAGATTTTGCTAGTGGAATCTGTAGGTGGTCTTTCTTCCTCGTACCTAATGCCAAGGTAGGAATAAACAAGGGCACCTAGTATGTTTTGCTTTGGGAGGGATTCCTCCAGGATCGAGGCTTTGGATGACTGGAGAGACAGGAATTCTTTATTCCAGACAGTAGACCAATAGACTTTCCTTGAGAAAGCTCCATGAGTGGGGAGGATTGAGTGGAGCAAAGGCTTATGGAGGAGACAGCTTAAGACTTACCTTCAGGAAATTCAGTATGGGAGGGGATAAGGAAGGGAAATCTCAGCCTGGGCAAAGGCTTGATACTGAGAGACTTAAATGCTCCCCTCAGGGCAGCAACAGCCTTAAGGAAGAGCATTTTAGGTCCAACTAGGGCGCAACTAGGGCGCAAAGGTCCAGAGGTAGGAAGGCTCAGACATATTCAGACCTTGAGGATGTTAATGAAGAGTTATTAGGCAGAGTGCTGCGGCTCTGCCTTGAGCCCCATCTTGTCGCTCCAGGTCGTGGGTGAGCCTGTACTGTGTGCTTAGTAAGGGGGAACTGGGCTTCTACAAGGACTCCAAGGGCCCGGCATCCGGGAGCACACACGGTGGGGAACCGCTGCTCAGCCTGCACAAGGCCACCAGCGAGGTGGCTAGTGACTACAAGAAAAAGAAGCATGTCTTCAAGCTCCAGTGAGCCCCCCAATGGGCAGGAGGGAGGGATCCAAGGCTCAGCTTCAACTCCCAGTGGGACCCTGGCTTCCCTGGGGGACACTTGGTGGGCAGGTGGGCTGGGCCCCTTCCCCAGATCTCTGAAGTCCTGTGTCCCTTCCTGCAGGACCCAGGATGGCAGTGAGTTTTTGCTCCAGGCAAAAGATGAGGTGAGATCTGGTCCTTTCCTCCCTCTGTGTGGACCTCAGTAATGACCTGGCTGTCTGGCTCCTGACCCAGAGTGATGGGGCTGTGAGAAGGGACACTCACAGGCCAGAGTTATCAGGGCTGTAATGGGAAAGCCCACAGGCACTGAGAGCCCAAAGGAGGTTCCTAACCCAGTGGGGAGTGGGAAGGGCTTCAGGGAGGGCTGCCTGCAGATCCTGATGACAAAGTCCAACATCTTTGCCGTGGTCACTCAGGTGAGACTGGAATGGAGGGAGTTCGCTTTAAAAAGGGGTGATTTGGCCAGGCGCGGTGGCTCACGCTTGTAATCCCAGTACTTTGGGAGGCCAAGACGGGCAGATCACCTGAGGTCAGGAGTTTGAG
Task1_train_27151
A genomic change on Chromosome 19 affects LOC130064475, LTBP4 (ATAC-STARR-seq lymphoblastoid silent region 10639| latent transforming growth factor beta binding protein 4). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
GGCCGCCTGCCTCCTCCCTCCCCTCCGCACAGCTGTCTCCAGCTGTTCTCTGCAGCCCCGGGAGAGAGAGGGAGGGGGTGCCCTCGCAGGACAGCCCGGCCTCCTTTGGCTCAAAGGTCCCGGGGCTCCCCAAGGGTCCGGAATGTGGAGCCTCCGCCCTGCCCCCGCCGCACCTCTCTCTTTGTTTACCCCGCCGCACAGCTGGCAGTGCCCCGCCCAGAGGTGGCCTGGGGCCCAGCGAGGGCGCGCAGAGGGGAGTGGAGGCGCGTTCCCGCTCGTGGCTCCGCCCCGGTGCTACTGGAGGCTGTAAGGCCGAGCTAGAACTCTAAAGCCCCAGCCAGAAAGAAGTTGGGCGGAGACACAGCGCGGTGGGCGGAACTAGGGCACCCGGACAGCCTGGAGGTGGGGTGGGAGGGGCGTGAACAAGTGAGCCGGGCGAATCAGAGTGCGGAAAGGAAGGTGGGAGGGGCTAGAGGCAGCAGGTTAAGCTCCTGGATAGGCGGGGTTTAGAATCCCGCGGGTAGAAGGTAATGTGAGAGGGGCTACAAAGGGGGCACAGCCAGGGGGCGGAGGTAGGACTTCGTGGACCAAGCAGAGGGAGTGTGGGCGGGCATAGAATGCGAAGGAGACAGAGTTGGGCGGGGAGTTATGCCAGGGAGTGGTTAAAATGTGGTTTGAGTCAATGGAAGGGATCAGCATTGGGTCGGAGGGGCTGGAACAGCAAAGGGTTCCGTCGGACTACGGAATGGGCGGGGTCAGCGCCGTCTGGGCTGGTCTGGAACTCCGTGGACTCAGCCAGAAATTGGGATCCGAGAGGTTGACATGAAAGTGAATAAACAGCCTGAGGGCTGGCTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAGAAGGATTGCCTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAGACCCCGCCTCTACCAAATTTTTAAAAAACGTAGCCCGATGTGGTGCACGCCTGTCGTCTCAGCTACTTAGGAGGCTCAGATGGGAGGATCACTTCAGCTTAGGAGGTCGAGGCTGCAGAGCCATAATCACGCTACTGCATTCCAGCCTGGGCAATAGAGCGAGATCCTGCCGACTTAGTGGGTGGGACCGTACCTCTGATGGCTGAACAACTGGACTGGGCCAATGCTGATGCCAGAATTGGGGCGGGGCCACATGACAGCTAAGGGCGGAGCGACTTAGAAATGAATGATACCTTGAGGGAGTAGGGACCCCAGGAGAACCTGCCAGGAATGGTGGCGCCCCTGAGTGTCCTCGTTCTCCTCCCAGTCCTGTGTCCCTTGATCTGTCACAATGGCGGTGTGTGCGTGAAGCCTGACCGCTGCCTCTGTCCCCCGGACTTCGCTGGCAAGTTCTGCCAGTTGCACTCCTCGGGCGCCCGGCCCCCGGCCCCGGCTGTACCAGGCCTCACCCGCTCCGTGTACACTATGCCACTGGCCAACCACCGCGACGACGAGCACGGTGAGGAAAGGGTGGCCAGAGTCCCCTCCGACCCCTGTCAAGCATTTCACTTTGCCCCTGACCCTCATATTTCCCGCCTTCCCGAGCACCTTTGCCCAGCTCGCCCTCCCCGCCTTGTCTAGCCCCACCCCGTAAGAACCCGTGTAGACATCCGTTTGCCCGGCCGTGCCTCCCCTAGGCGTGGCATCTATGGTGAGCGTCCACGTGGAGCACCCGCAGGAGGCGTCGGTGGTGGTGCACCAGGTGGAGCGTGTGTCTGGCCCTTGGGAGGAGGCGGACGCTGAGGCGGTGGCGCGGGCGGAAGCGGCGGCGCGGGCGGAGGCGGCAGCGCCCTACACGGTGTTGGCACAGAGCGCGCCGCGGGAGGACGGCTACTCAGATGCCTCGGGCTTCGGTTACTGCTTTCGGGAGCTGCGCGGAGGCGAAGTGAGAGGAGGCCCGTGGGGAGGGGCCCGGAGCTTGCCTCCGCGCGGGGGCGCGCTCACCCAACACTTCCCCGCAGTGCGCGTCCCCGCTGCCCGGGCTCCGGACGCAGGAGGTCTGCTGCCGAGGGGCCGGCTTGGCCTGGGGCGTTCACGACTGTCAGCTGTGCTCCGAGCGCCTGGGTAAGCCCCAGGACGTCCCCGAAGTGCTCGGAGCTGGGGAGTGGTGACAACCTCACCGTTCCTCCTACTCTGCCCTAGATAAACCCAGTTCACAAATTGTAGCCACGCCTACCCCATTGTGGAGGCGACTTCCAGTCCTGAGCTTTTCATACCGCTCTGGGACCACCCACCCCATTTTCTGACTTTGGCCACTCTGTTCTCACCCTGCCTTTGTGCCTTGGCCCCCCACCATATACTTTGGGAGTCTCCAATGTTGCCATTTCAACTGCCAACCTAAGGCTGTCCCTGCACTTAAACTACAGCCAACATCTTTTAGTCCCTCCCACCCCGTCTTCGTCTCTGCCCACTCCATTCTCGCTCTGCCCACCTGTCCCTGGCCCACCCCTCTCCTCTCGCCACAGGGAACTCCGAAAGAGTGAGCGCCCCAGATGGACCTTGTCCAACCGGCTTTGAAAGAGTTAATGGGTCCTGCGAAGGTGCAACGGGGCAGGGGTGGGAGGGGCTTGGTTCTGGGGGCGGGATTTGCAGGGATCAAGTTCCTGACTCCACGGTGACCTCCCCAACCCTGGCAGATGTGGATGAGTGCGCGACTGGCGGGCGCTGCCAGCACGGCGAGTGTGCAAACACGCGCGGCGGGTACACGTGTGTGTGCCCCGACGGCTTTCTGCTCGACTCGTCCCGCAGCAGCTGCATCTGTGAGCAACCAGCAGGGAGCTGAGGCTGGGTCCCGCCCTCCCTGCCCTCAGAAGTCCCAGAGCATCCTGGGGCCTTTAATTCCCTCGGACCCCCCCAGACTCCCGGGTTCCTCTGTCAGCCTTAGAGCCCCCTCAGAACTTCTCAGATTCTTATACAGCTTCAGCATCCCTGGACCACCTTTAGACCTTTCAAGCCTTTTGGATCCAGATCCCTCCAGACTCCCAGACTTTTTTTTTTGGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAATCTCTGCCTCCTGGTTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTAGAACTACAGGCGGGCACCACCATGCCCGGCTAAATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCGCCACGTTGGCCAGGCTGGCCTCAAACCCCTGGCTTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCAGCTCTCCCAGACTTTCTGGAATCCTTCTCAGACCCCCAAATCCTCTCGTCCCCCTCAACGACTCGACTATCTTCAGATCTTGAGATCCTTCTCAGAGTCTCTCATTCACCACTGACACCCCATTGAGGCTCCAAGCCCTTCTCAGACCTCCAGAGCCCACTGCTCTCCTTCAGACCCTCTCAGACCTCTCCCAAATGCCCCTCGCACCCACCAACCCCCCACCCCCAACCCCAGAACCATTCCCCTCTCTCCCAAATCCCTCAGTGCTACAGCATTCCCAGCCCCGCCCTGAAGGATTTCCTCCCTGCTCCTCGCAGCCCAACACGTGATCTCAGAGGCCAAAGGGCCCTGCTTCCGCGTGCTCCGCGACGGCGGCTGTTCGCTGCCCATTCTGCGGAACATCACTAAACAGATCTGCTGCTGCAGCCGCGTAGGCAAGGCCTGGGGCCGGGGCTGCCAGCTCTGCCCACCCTTCGGCTCAGGTGAGCCCCTGCGGCAGTGCCTAGCCCTACGCGCAACACATGTGGCGCTCATTCTACGCCCCACCCTCCAACCCTGAGTTCACTGCCCCAACCTGACTGGCTGGGCTCCAGCCTTGGCCACGCAGCAGCCTCTGAGACCCGCAGGCCTCAGACTGGACAGCATCCATGGCTCCACCTCCATCTGTAGCCACAGCCACCCCTCCATTCGTAGCCACAGCTACCCCGGAGCTCCCAAGTTAGTTTTTGTCTCCTGAGCGTCAACGCCCAGTCCCACCCTGTCCCTGAA
GGCCGCCTGCCTCCTCCCTCCCCTCCGCACAGCTGTCTCCAGCTGTTCTCTGCAGCCCCGGGAGAGAGAGGGAGGGGGTGCCCTCGCAGGACAGCCCGGCCTCCTTTGGCTCAAAGGTCCCGGGGCTCCCCAAGGGTCCGGAATGTGGAGCCTCCGCCCTGCCCCCGCCGCACCTCTCTCTTTGTTTACCCCGCCGCACAGCTGGCAGTGCCCCGCCCAGAGGTGGCCTGGGGCCCAGCGAGGGCGCGCAGAGGGGAGTGGAGGCGCGTTCCCGCTCGTGGCTCCGCCCCGGTGCTACTGGAGGCTGTAAGGCCGAGCTAGAACTCTAAAGCCCCAGCCAGAAAGAAGTTGGGCGGAGACACAGCGCGGTGGGCGGAACTAGGGCACCCGGACAGCCTGGAGGTGGGGTGGGAGGGGCGTGAACAAGTGAGCCGGGCGAATCAGAGTGCGGAAAGGAAGGTGGGAGGGGCTAGAGGCAGCAGGTTAAGCTCCTGGATAGGCGGGGTTTAGAATCCCGCGGGTAGAAGGTAATGTGAGAGGGGCTACAAAGGGGGCACAGCCAGGGGGCGGAGGTAGGACTTCGTGGACCAAGCAGAGGGAGTGTGGGCGGGCATAGAATGCGAAGGAGACAGAGTTGGGCGGGGAGTTATGCCAGGGAGTGGTTAAAATGTGGTTTGAGTCAATGGAAGGGATCAGCATTGGGTCGGAGGGGCTGGAACAGCAAAGGGTTCCGTCGGACTACGGAATGGGCGGGGTCAGCGCCGTCTGGGCTGGTCTGGAACTCCGTGGACTCAGCCAGAAATTGGGATCCGAGAGGTTGACATGAAAGTGAATAAACAGCCTGAGGGCTGGCTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAGAAGGATTGCCTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAGACCCCGCCTCTACCAAATTTTTAAAAAACGTAGCCCGATGTGGTGCACGCCTGTCGTCTCAGCTACTTAGGAGGCTCAGATGGGAGGATCACTTCAGCTTAGGAGGTCGAGGCTGCAGAGCCATAATCACGCTACTGCATTCCAGCCTGGGCAATAGAGCGAGATCCTGCCGACTTAGTGGGTGGGACCGTACCTCTGATGGCTGAACAACTGGACTGGGCCAATGCTGATGCCAGAATTGGGGCGGGGCCACATGACAGCTAAGGGCGGAGCGACTTAGAAATGAATGATACCTTGAGGGAGTAGGGACCCCAGGAGAACCTGCCAGGAATGGTGGCGCCCCTGAGTGTCCTCGTTCTCCTCCCAGTCCTGTGTCCCTTGATCTGTCACAATGGCGGTGTGTGCGTGAAGCCTGACCGCTGCCTCTGTCCCCCGGACTTCGCTGGCAAGTTCTGCCAGTTGCACTCCTCGGGCGCCCGGCCCCCGGCCCCGGCTGTACCAGGCCTCACCCGCTCCGTGTACACTATGCCACTGGCCAACCACCGCGACGACGAGCACGGTGAGGAAAGGGTGGCCAGAGTCCCCTCCGACCCCTGTCAAGCATTTCACTTTGCCCCTGACCCTCATATTTCCCGCCTTCCCGAGCACCTTTGCCCAGCTCGCCCTCCCCGCCTTGTCTAGCCCCACCCCGTAAGAACCCGTGTAGACATCCGTTTGCCCGGCCGTGCCTCCCCTAGGCGTGGCATCTATGGTGAGCGTCCACGTGGAGCACCCGCAGGAGGCGTCGGTGGTGGTGCACCAGGTGGAGCGTGTGTCTGGCCCTTGGGAGGAGGCGGACGCTGAGGCGGTGGCGCGGGCGGAAGCGGCGGCGCGGGCGGAGGCGGCAGCGCCCTACACGGTGTTGGCACAGAGCGCGCCGCGGGAGGACGGCTACTCAGATGCCTCGGGCTTCGGTTACTGCTTTCGGGAGCTGCGCGGAGGCGAAGTGAGAGGAGGCCCGTGGGGAGGGGCCCGGAGCTTGCCTCCGCGCGGGGGCGCGCTCACCCAACACTTCCCCGCAGTGCGCGTCCCCGCTGCCCGGGCTCCGGACGCAGGAGGTCGGCTGCCGAGGGGCCGGCTTGGCCTGGGGCGTTCACGACTGTCAGCTGTGCTCCGAGCGCCTGGGTAAGCCCCAGGACGTCCCCGAAGTGCTCGGAGCTGGGGAGTGGTGACAACCTCACCGTTCCTCCTACTCTGCCCTAGATAAACCCAGTTCACAAATTGTAGCCACGCCTACCCCATTGTGGAGGCGACTTCCAGTCCTGAGCTTTTCATACCGCTCTGGGACCACCCACCCCATTTTCTGACTTTGGCCACTCTGTTCTCACCCTGCCTTTGTGCCTTGGCCCCCCACCATATACTTTGGGAGTCTCCAATGTTGCCATTTCAACTGCCAACCTAAGGCTGTCCCTGCACTTAAACTACAGCCAACATCTTTTAGTCCCTCCCACCCCGTCTTCGTCTCTGCCCACTCCATTCTCGCTCTGCCCACCTGTCCCTGGCCCACCCCTCTCCTCTCGCCACAGGGAACTCCGAAAGAGTGAGCGCCCCAGATGGACCTTGTCCAACCGGCTTTGAAAGAGTTAATGGGTCCTGCGAAGGTGCAACGGGGCAGGGGTGGGAGGGGCTTGGTTCTGGGGGCGGGATTTGCAGGGATCAAGTTCCTGACTCCACGGTGACCTCCCCAACCCTGGCAGATGTGGATGAGTGCGCGACTGGCGGGCGCTGCCAGCACGGCGAGTGTGCAAACACGCGCGGCGGGTACACGTGTGTGTGCCCCGACGGCTTTCTGCTCGACTCGTCCCGCAGCAGCTGCATCTGTGAGCAACCAGCAGGGAGCTGAGGCTGGGTCCCGCCCTCCCTGCCCTCAGAAGTCCCAGAGCATCCTGGGGCCTTTAATTCCCTCGGACCCCCCCAGACTCCCGGGTTCCTCTGTCAGCCTTAGAGCCCCCTCAGAACTTCTCAGATTCTTATACAGCTTCAGCATCCCTGGACCACCTTTAGACCTTTCAAGCCTTTTGGATCCAGATCCCTCCAGACTCCCAGACTTTTTTTTTTGGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAATCTCTGCCTCCTGGTTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTAGAACTACAGGCGGGCACCACCATGCCCGGCTAAATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCGCCACGTTGGCCAGGCTGGCCTCAAACCCCTGGCTTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCAGCTCTCCCAGACTTTCTGGAATCCTTCTCAGACCCCCAAATCCTCTCGTCCCCCTCAACGACTCGACTATCTTCAGATCTTGAGATCCTTCTCAGAGTCTCTCATTCACCACTGACACCCCATTGAGGCTCCAAGCCCTTCTCAGACCTCCAGAGCCCACTGCTCTCCTTCAGACCCTCTCAGACCTCTCCCAAATGCCCCTCGCACCCACCAACCCCCCACCCCCAACCCCAGAACCATTCCCCTCTCTCCCAAATCCCTCAGTGCTACAGCATTCCCAGCCCCGCCCTGAAGGATTTCCTCCCTGCTCCTCGCAGCCCAACACGTGATCTCAGAGGCCAAAGGGCCCTGCTTCCGCGTGCTCCGCGACGGCGGCTGTTCGCTGCCCATTCTGCGGAACATCACTAAACAGATCTGCTGCTGCAGCCGCGTAGGCAAGGCCTGGGGCCGGGGCTGCCAGCTCTGCCCACCCTTCGGCTCAGGTGAGCCCCTGCGGCAGTGCCTAGCCCTACGCGCAACACATGTGGCGCTCATTCTACGCCCCACCCTCCAACCCTGAGTTCACTGCCCCAACCTGACTGGCTGGGCTCCAGCCTTGGCCACGCAGCAGCCTCTGAGACCCGCAGGCCTCAGACTGGACAGCATCCATGGCTCCACCTCCATCTGTAGCCACAGCCACCCCTCCATTCGTAGCCACAGCTACCCCGGAGCTCCCAAGTTAGTTTTTGTCTCCTGAGCGTCAACGCCCAGTCCCACCCTGTCCCTGAA
Task1_train_27152
A sequence alteration has been identified in COQ8B (coenzyme Q8B) on Chromosome 19. Is it disease-inducing or harmless?
Pathogenic; Nephrotic syndrome, type 9
CATACTGACATCATCTATTCCATAAAAAAAAAAAAAGTGCTGGTGGATCATGAGGTCAGGAGTTCAAGACTAGCCTGGCCAAAATGGTGAAACCTCATCTCTACTAAAGATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTCGAACCCCAGAGGCAGAGGCTTCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCCTGTTGGAAACCAATAAATTGATGTCAGGACTCCTATCACTTGGAGTTGGGTAAACATATCCCTGGGGTATGAACCTAGGAGGGGACACAGGGTGTATGCACATTGTGGAGAAAGAAGAGGCAAGGGACTAGGGCTGGAGACTCCGTGGGGCCACAGGATGCTCAGCAAAGGGTTCAGACTTGATTCTGAGGGGGCTGTGAAGCTGTAGGAGGGATATCTTGACCAGATTTGTGCTTTAGAAAGACCCCTCTGGGGACAAAATGGGGATAGACCACTTTGGAAAACAGTTGGCAACCCCTGATAAAGGTAATGATGTATCCACCAACACTCAAGTCTGCAGGTCCAAACCTTCACTACAGGTCTTTGTACACCCCCTGCCCTCTGCTGGGAACACTCTGCTCTCTGGATGGTTGTCTCCTTTTCCCCTGTCCCATCTCAGCCTTTTTTTTTTTTTTAAATAGAGCCCAGGCTGGTTTTAAATTCCTGGCCTCAAGGGATCCTCCTGCCTCAGCATCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCTCAGCCTCTGGTCTCAGCTTTTTTTTTTTTTCTTTGGTGAGACAGAGTCTCGCCCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTGGTTCGCTGCAGCCTCGACCTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCTCTCAGTGGCCTCAGCTTTAATGGCACTTGCTTTAAGAAGCCTCCCTTAATCCCTGCTCACCCCACAGTGAGTCAGGCACTTTCCCTGGGATCCCATAACTTCCTGTGCCTCCCCCAACTCCAGCCCCCACCCCTCTGCCTGTGCCTCCCCCATCCCGGTCCTGACCCATCTGGCCTGTGCTCCTCATTGTGGTTGGTACGAACCACTCTAGGTCATCGCTGTGTGGTGCCAGGTCCCCCCACTGGACTGGGCACTCTGAGAAGGCAAGGGTCAGGGATGTCTTTTTATTGCTGTCAAGAGGCAAGGGCAGGTGATGGTGTGTTCTGTATGGATGACGAGTGTGGTAGTGATGGCTAACTGCCTTCCAAAAGCTGTACTTCCCCTCTGTGCTGTCACATTGCCACCAGGAACCACTGCCTAGCCAGGGACTCCATTTTCCAGCATGCCTTGCACCTAGGCAGGCTATGTCACTAGCTCTCACTGATGGAATGGCAACGGAAGTGCTATGTCCATTGCCCCAGGATGAGCTTAGTGTATTTAGCCTGGGCATTACTTTTTCCACTTCTGGCCAAAGCAGTTAGGCAGGGGGCTACCCTCAACCTCTCTTACCCTTTCCTTGGGAAGCAGAGCGTTGCAAGGCCCCAGGGATGGCAAAACCACAAAAGGGAAGGAGCTGGGTCCCTGAATCCCACTTGGAAAAGGGCCACCCCTGCCTATTGTGGGGGTAATCAACTGCTATTTTGTTGAGCTACCGAAATATCAAGGAATATTTGTTACAACAGCAAATGTACCCAGACACACATCACTAGGAACCAACCTGGTGGCTGGAGGCATCATACAGGAAGTTGGCCCAGTTGGGGTCAGTCTGCATGAATCGGAACTCAAACAGCTCCCGCAGACACAGCGTCAGGAGCTGGAAGCAAATCTGGGGTGGGGAGAATTAACAGGCATCTCAGTGTGATCTCCCTTGTGGTGCCACTGCTGGCCTGGAGAGAGACCATGAGCCTGGCCCACCCGCCCTGGGGCCATGCCCTTCCCACTGTGCCACCAGACAGCATACCTGGTTCCGCAGGTCCTGGCTTAGGCCCTGGCACTGGTCCAGGGGGACCCCTCCAGCCAGCTCCATGCCCAGCACCCGTGTCGTGCACAGCTCCTTAACCACGGCTGGGACCCGGAAGAAGGGGTCATTTGCCAGCAGCTGCCTGGGGCAGAAGGAAAGGGAGGAAGGGGACTTCGTGCTTCAGGCTTGTGACCCAGCTTGAGACCTCCTCCTTGTGCTCTCAGAAGTCCTCCATGAACAGTCTGCGCCATGCCCTCCCTCCTGCCCATCTCTTGCTGCTGTCTGCCCTGGGTGATGACCAACACCTGGCTGGACTGAGATTTAACAAGTATCTCCAAGGTGCCTACTCTGCACCTGCCTCTCAACTGGGTGCTGCTGGAAACCCAGTCACCACTTCCCTACCCGAAACCCTTCTATGACTTCTGGTTGCCCCAGAAGGATGAGTTCAGGTGTATTTCAGCCTTTGCATTACTTTTTCATTAATTTATTAATTCATTCATCCCAAAAGTAGTCACTGGTATCAAAATCTGTGAAGTCTATAGTGATACCCATGGGTCAGTCCTTGCAATCACTACTCTGAACACAGGTAAATAGCGGGAAAGAATCTTCTGTGTCCATCCTTGTGCTAAATGATGCTGGGGACAGAGCAGTGAATGAACCAGTCCCTGGACCTGGCCCCCAACCCCGAGACCACACTCTCACAAACAGACGGATTATAGATTGAGGTAAGTGTGTTGGCTGGGTGCAGTGGCTTACACCTGTAATCCCAGCAGTTTGAGACACCGAGGTGGGAGAATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCGTCTTTATGAAAAACTACAAAAATTAGCTGGGCGTGGTGGCCTGCGCCTATGTTCCCAGCTACTCAGGAGGCTGAGGTGGGAAAATCACTTGAGCCTGGGAGGTCGAGGCTGGAGTGAGCTGTGATCTCACCACTGTATTCCAGCCTGGAAAACAGAGCGAGACCCTGTCTCAAAAAAATAAAAGAAGTATGTCTATGTAAGATTTGGGAGGCAGAGAATATGAGCAAGGTCTCTGGTTGAGGATCCGTGGGATGGCTGGAGGAGAGTGAGGGAGAACAGGAGGGTGGTGTGGGGTTTTATCCTAAGGGCACCCGGGAATCCTGTGGGGGACGGGGGGGTCTCTGGCCCATCACCCCACTTCACACTCTCTTCCTTGAGCTCCTCCTTTGGGGTTTGTATTTTTGTCCTTGTTGATAAAAATCTCTGATGTTTGAACTGCTCCTCATGAACCGGAGCCATGTGGGGCATTTAATCGGCACACTCCCCTTTCATCCTCACTCCACAGTGAGGGGATGCTCTCTGGAGGCCACTGTACAGATTGTATGGATGCAGGCCACGTAACCTGTTAAGGGCTGACCCAGGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTTGCAGACAAGCGTTCTAGAACAGTCTGATGATGGATACTGGCAAAAGGGTCCCTAGAGTGTTCAGCAGGGAGGGCAATCGTTGGCTTGCAGAGTTCTTGAATATAAGGGCTTATGTGATGATGCCAACCTGTTCTCAAAATGCTTCTACCACCTTCTCCCACAACCTGCAGTGCAGAAGGGATGCTGTGGAGCCCACTCTCTCTACCTCCCAGTGCTGTGGGCTCCTTGCTCTCCGTCAGTCCAGCAGAGGTAAGAGTGTGTCATTGTGTAATTAATTAAGTGCCTGTGTCGGACCACAGTGGATATGC
CATACTGACATCATCTATTCCATAAAAAAAAAAAAAGTGCTGGTGGATCATGAGGTCAGGAGTTCAAGACTAGCCTGGCCAAAATGGTGAAACCTCATCTCTACTAAAGATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTCGAACCCCAGAGGCAGAGGCTTCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCCTGTTGGAAACCAATAAATTGATGTCAGGACTCCTATCACTTGGAGTTGGGTAAACATATCCCTGGGGTATGAACCTAGGAGGGGACACAGGGTGTATGCACATTGTGGAGAAAGAAGAGGCAAGGGACTAGGGCTGGAGACTCCGTGGGGCCACAGGATGCTCAGCAAAGGGTTCAGACTTGATTCTGAGGGGGCTGTGAAGCTGTAGGAGGGATATCTTGACCAGATTTGTGCTTTAGAAAGACCCCTCTGGGGACAAAATGGGGATAGACCACTTTGGAAAACAGTTGGCAACCCCTGATAAAGGTAATGATGTATCCACCAACACTCAAGTCTGCAGGTCCAAACCTTCACTACAGGTCTTTGTACACCCCCTGCCCTCTGCTGGGAACACTCTGCTCTCTGGATGGTTGTCTCCTTTTCCCCTGTCCCATCTCAGCCTTTTTTTTTTTTTTAAATAGAGCCCAGGCTGGTTTTAAATTCCTGGCCTCAAGGGATCCTCCTGCCTCAGCATCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCTCAGCCTCTGGTCTCAGCTTTTTTTTTTTTTCTTTGGTGAGACAGAGTCTCGCCCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTGGTTCGCTGCAGCCTCGACCTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCTCTCAGTGGCCTCAGCTTTAATGGCACTTGCTTTAAGAAGCCTCCCTTAATCCCTGCTCACCCCACAGTGAGTCAGGCACTTTCCCTGGGATCCCATAACTTCCTGTGCCTCCCCCAACTCCAGCCCCCACCCCTCTGCCTGTGCCTCCCCCATCCCGGTCCTGACCCATCTGGCCTGTGCTCCTCATTGTGGTTGGTACGAACCACTCTAGGTCATCGCTGTGTGGTGCCAGGTCCCCCCACTGGACTGGGCACTCTGAGAAGGCAAGGGTCAGGGATGTCTTTTTATTGCTGTCAAGAGGCAAGGGCAGGTGATGGTGTGTTCTGTATGGATGACGAGTGTGGTAGTGATGGCTAACTGCCTTCCAAAAGCTGTACTTCCCCTCTGTGCTGTCACATTGCCACCAGGAACCACTGCCTAGCCAGGGACTCCATTTTCCAGCATGCCTTGCACCTAGGCAGGCTATGTCACTAGCTCTCACTGATGGAATGGCAACGGAAGTGCTATGTCCATTGCCCCAGGATGAGCTTAGTGTATTTAGCCTGGGCATTACTTTTTCCACTTCTGGCCAAAGCAGTTAGGCAGGGGGCTACCCTCAACCTCTCTTACCCTTTCCTTGGGAAGCAGAGCGTTGCAAGGCCCCAGGGATGGCAAAACCACAAAAGGGAAGGAGCTGGGTCCCTGAATCCCACTTGGAAAAGGGCCACCCCTGCCTATTGTGGGGGTAATCAACTGCTATTTTGTTGAGCTACCGAAATATCAAGGAATATTTGTTACAACAGCAAATGTACCCAGACACACATCACTAGGAACCAACCTGGTGGCTGGAGGCATCATACAGGAAGTTGGCCCAGTTGGGGTCAGTCTGCATGAATCGGAACTCAAACAGCTCCCGCAGACACAGCGTCAGGAGCTGGAAGCAAATCTGGGGTGGGGAGAATTAACAGGCATCTCAGTGTGATCTCCCTTGTGGTGCCACTGCTGGCCTGGAGAGAGACCATGAGCCTGGCCCACCCGCCCTGGGGCCATGCCCTTCCCACTGTGCCACCAGACAGCATACCTGGTTCCACAGGTCCTGGCTTAGGCCCTGGCACTGGTCCAGGGGGACCCCTCCAGCCAGCTCCATGCCCAGCACCCGTGTCGTGCACAGCTCCTTAACCACGGCTGGGACCCGGAAGAAGGGGTCATTTGCCAGCAGCTGCCTGGGGCAGAAGGAAAGGGAGGAAGGGGACTTCGTGCTTCAGGCTTGTGACCCAGCTTGAGACCTCCTCCTTGTGCTCTCAGAAGTCCTCCATGAACAGTCTGCGCCATGCCCTCCCTCCTGCCCATCTCTTGCTGCTGTCTGCCCTGGGTGATGACCAACACCTGGCTGGACTGAGATTTAACAAGTATCTCCAAGGTGCCTACTCTGCACCTGCCTCTCAACTGGGTGCTGCTGGAAACCCAGTCACCACTTCCCTACCCGAAACCCTTCTATGACTTCTGGTTGCCCCAGAAGGATGAGTTCAGGTGTATTTCAGCCTTTGCATTACTTTTTCATTAATTTATTAATTCATTCATCCCAAAAGTAGTCACTGGTATCAAAATCTGTGAAGTCTATAGTGATACCCATGGGTCAGTCCTTGCAATCACTACTCTGAACACAGGTAAATAGCGGGAAAGAATCTTCTGTGTCCATCCTTGTGCTAAATGATGCTGGGGACAGAGCAGTGAATGAACCAGTCCCTGGACCTGGCCCCCAACCCCGAGACCACACTCTCACAAACAGACGGATTATAGATTGAGGTAAGTGTGTTGGCTGGGTGCAGTGGCTTACACCTGTAATCCCAGCAGTTTGAGACACCGAGGTGGGAGAATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCGTCTTTATGAAAAACTACAAAAATTAGCTGGGCGTGGTGGCCTGCGCCTATGTTCCCAGCTACTCAGGAGGCTGAGGTGGGAAAATCACTTGAGCCTGGGAGGTCGAGGCTGGAGTGAGCTGTGATCTCACCACTGTATTCCAGCCTGGAAAACAGAGCGAGACCCTGTCTCAAAAAAATAAAAGAAGTATGTCTATGTAAGATTTGGGAGGCAGAGAATATGAGCAAGGTCTCTGGTTGAGGATCCGTGGGATGGCTGGAGGAGAGTGAGGGAGAACAGGAGGGTGGTGTGGGGTTTTATCCTAAGGGCACCCGGGAATCCTGTGGGGGACGGGGGGGTCTCTGGCCCATCACCCCACTTCACACTCTCTTCCTTGAGCTCCTCCTTTGGGGTTTGTATTTTTGTCCTTGTTGATAAAAATCTCTGATGTTTGAACTGCTCCTCATGAACCGGAGCCATGTGGGGCATTTAATCGGCACACTCCCCTTTCATCCTCACTCCACAGTGAGGGGATGCTCTCTGGAGGCCACTGTACAGATTGTATGGATGCAGGCCACGTAACCTGTTAAGGGCTGACCCAGGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTTGCAGACAAGCGTTCTAGAACAGTCTGATGATGGATACTGGCAAAAGGGTCCCTAGAGTGTTCAGCAGGGAGGGCAATCGTTGGCTTGCAGAGTTCTTGAATATAAGGGCTTATGTGATGATGCCAACCTGTTCTCAAAATGCTTCTACCACCTTCTCCCACAACCTGCAGTGCAGAAGGGATGCTGTGGAGCCCACTCTCTCTACCTCCCAGTGCTGTGGGCTCCTTGCTCTCCGTCAGTCCAGCAGAGGTAAGAGTGTGTCATTGTGTAATTAATTAAGTGCCTGTGTCGGACCACAGTGGATATGC
Task1_train_27153
Consider this mutation in COQ8B (coenzyme Q8B) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; Nephrotic syndrome, type 9
CTAGCCTGGCCAAAATGGTGAAACCTCATCTCTACTAAAGATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTCGAACCCCAGAGGCAGAGGCTTCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCCTGTTGGAAACCAATAAATTGATGTCAGGACTCCTATCACTTGGAGTTGGGTAAACATATCCCTGGGGTATGAACCTAGGAGGGGACACAGGGTGTATGCACATTGTGGAGAAAGAAGAGGCAAGGGACTAGGGCTGGAGACTCCGTGGGGCCACAGGATGCTCAGCAAAGGGTTCAGACTTGATTCTGAGGGGGCTGTGAAGCTGTAGGAGGGATATCTTGACCAGATTTGTGCTTTAGAAAGACCCCTCTGGGGACAAAATGGGGATAGACCACTTTGGAAAACAGTTGGCAACCCCTGATAAAGGTAATGATGTATCCACCAACACTCAAGTCTGCAGGTCCAAACCTTCACTACAGGTCTTTGTACACCCCCTGCCCTCTGCTGGGAACACTCTGCTCTCTGGATGGTTGTCTCCTTTTCCCCTGTCCCATCTCAGCCTTTTTTTTTTTTTTAAATAGAGCCCAGGCTGGTTTTAAATTCCTGGCCTCAAGGGATCCTCCTGCCTCAGCATCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCTCAGCCTCTGGTCTCAGCTTTTTTTTTTTTTCTTTGGTGAGACAGAGTCTCGCCCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTGGTTCGCTGCAGCCTCGACCTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCTCTCAGTGGCCTCAGCTTTAATGGCACTTGCTTTAAGAAGCCTCCCTTAATCCCTGCTCACCCCACAGTGAGTCAGGCACTTTCCCTGGGATCCCATAACTTCCTGTGCCTCCCCCAACTCCAGCCCCCACCCCTCTGCCTGTGCCTCCCCCATCCCGGTCCTGACCCATCTGGCCTGTGCTCCTCATTGTGGTTGGTACGAACCACTCTAGGTCATCGCTGTGTGGTGCCAGGTCCCCCCACTGGACTGGGCACTCTGAGAAGGCAAGGGTCAGGGATGTCTTTTTATTGCTGTCAAGAGGCAAGGGCAGGTGATGGTGTGTTCTGTATGGATGACGAGTGTGGTAGTGATGGCTAACTGCCTTCCAAAAGCTGTACTTCCCCTCTGTGCTGTCACATTGCCACCAGGAACCACTGCCTAGCCAGGGACTCCATTTTCCAGCATGCCTTGCACCTAGGCAGGCTATGTCACTAGCTCTCACTGATGGAATGGCAACGGAAGTGCTATGTCCATTGCCCCAGGATGAGCTTAGTGTATTTAGCCTGGGCATTACTTTTTCCACTTCTGGCCAAAGCAGTTAGGCAGGGGGCTACCCTCAACCTCTCTTACCCTTTCCTTGGGAAGCAGAGCGTTGCAAGGCCCCAGGGATGGCAAAACCACAAAAGGGAAGGAGCTGGGTCCCTGAATCCCACTTGGAAAAGGGCCACCCCTGCCTATTGTGGGGGTAATCAACTGCTATTTTGTTGAGCTACCGAAATATCAAGGAATATTTGTTACAACAGCAAATGTACCCAGACACACATCACTAGGAACCAACCTGGTGGCTGGAGGCATCATACAGGAAGTTGGCCCAGTTGGGGTCAGTCTGCATGAATCGGAACTCAAACAGCTCCCGCAGACACAGCGTCAGGAGCTGGAAGCAAATCTGGGGTGGGGAGAATTAACAGGCATCTCAGTGTGATCTCCCTTGTGGTGCCACTGCTGGCCTGGAGAGAGACCATGAGCCTGGCCCACCCGCCCTGGGGCCATGCCCTTCCCACTGTGCCACCAGACAGCATACCTGGTTCCGCAGGTCCTGGCTTAGGCCCTGGCACTGGTCCAGGGGGACCCCTCCAGCCAGCTCCATGCCCAGCACCCGTGTCGTGCACAGCTCCTTAACCACGGCTGGGACCCGGAAGAAGGGGTCATTTGCCAGCAGCTGCCTGGGGCAGAAGGAAAGGGAGGAAGGGGACTTCGTGCTTCAGGCTTGTGACCCAGCTTGAGACCTCCTCCTTGTGCTCTCAGAAGTCCTCCATGAACAGTCTGCGCCATGCCCTCCCTCCTGCCCATCTCTTGCTGCTGTCTGCCCTGGGTGATGACCAACACCTGGCTGGACTGAGATTTAACAAGTATCTCCAAGGTGCCTACTCTGCACCTGCCTCTCAACTGGGTGCTGCTGGAAACCCAGTCACCACTTCCCTACCCGAAACCCTTCTATGACTTCTGGTTGCCCCAGAAGGATGAGTTCAGGTGTATTTCAGCCTTTGCATTACTTTTTCATTAATTTATTAATTCATTCATCCCAAAAGTAGTCACTGGTATCAAAATCTGTGAAGTCTATAGTGATACCCATGGGTCAGTCCTTGCAATCACTACTCTGAACACAGGTAAATAGCGGGAAAGAATCTTCTGTGTCCATCCTTGTGCTAAATGATGCTGGGGACAGAGCAGTGAATGAACCAGTCCCTGGACCTGGCCCCCAACCCCGAGACCACACTCTCACAAACAGACGGATTATAGATTGAGGTAAGTGTGTTGGCTGGGTGCAGTGGCTTACACCTGTAATCCCAGCAGTTTGAGACACCGAGGTGGGAGAATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCGTCTTTATGAAAAACTACAAAAATTAGCTGGGCGTGGTGGCCTGCGCCTATGTTCCCAGCTACTCAGGAGGCTGAGGTGGGAAAATCACTTGAGCCTGGGAGGTCGAGGCTGGAGTGAGCTGTGATCTCACCACTGTATTCCAGCCTGGAAAACAGAGCGAGACCCTGTCTCAAAAAAATAAAAGAAGTATGTCTATGTAAGATTTGGGAGGCAGAGAATATGAGCAAGGTCTCTGGTTGAGGATCCGTGGGATGGCTGGAGGAGAGTGAGGGAGAACAGGAGGGTGGTGTGGGGTTTTATCCTAAGGGCACCCGGGAATCCTGTGGGGGACGGGGGGGTCTCTGGCCCATCACCCCACTTCACACTCTCTTCCTTGAGCTCCTCCTTTGGGGTTTGTATTTTTGTCCTTGTTGATAAAAATCTCTGATGTTTGAACTGCTCCTCATGAACCGGAGCCATGTGGGGCATTTAATCGGCACACTCCCCTTTCATCCTCACTCCACAGTGAGGGGATGCTCTCTGGAGGCCACTGTACAGATTGTATGGATGCAGGCCACGTAACCTGTTAAGGGCTGACCCAGGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTTGCAGACAAGCGTTCTAGAACAGTCTGATGATGGATACTGGCAAAAGGGTCCCTAGAGTGTTCAGCAGGGAGGGCAATCGTTGGCTTGCAGAGTTCTTGAATATAAGGGCTTATGTGATGATGCCAACCTGTTCTCAAAATGCTTCTACCACCTTCTCCCACAACCTGCAGTGCAGAAGGGATGCTGTGGAGCCCACTCTCTCTACCTCCCAGTGCTGTGGGCTCCTTGCTCTCCGTCAGTCCAGCAGAGGTAAGAGTGTGTCATTGTGTAATTAATTAAGTGCCTGTGTCGGACCACAGTGGATATGCGGCCCATCTGACACAGGAGAAGACTGCCGCTTGGGAAGTGACCTGCCCAAGCTCACAGAGGACAAAGGG
CTAGCCTGGCCAAAATGGTGAAACCTCATCTCTACTAAAGATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTCGAACCCCAGAGGCAGAGGCTTCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCCTGTTGGAAACCAATAAATTGATGTCAGGACTCCTATCACTTGGAGTTGGGTAAACATATCCCTGGGGTATGAACCTAGGAGGGGACACAGGGTGTATGCACATTGTGGAGAAAGAAGAGGCAAGGGACTAGGGCTGGAGACTCCGTGGGGCCACAGGATGCTCAGCAAAGGGTTCAGACTTGATTCTGAGGGGGCTGTGAAGCTGTAGGAGGGATATCTTGACCAGATTTGTGCTTTAGAAAGACCCCTCTGGGGACAAAATGGGGATAGACCACTTTGGAAAACAGTTGGCAACCCCTGATAAAGGTAATGATGTATCCACCAACACTCAAGTCTGCAGGTCCAAACCTTCACTACAGGTCTTTGTACACCCCCTGCCCTCTGCTGGGAACACTCTGCTCTCTGGATGGTTGTCTCCTTTTCCCCTGTCCCATCTCAGCCTTTTTTTTTTTTTTAAATAGAGCCCAGGCTGGTTTTAAATTCCTGGCCTCAAGGGATCCTCCTGCCTCAGCATCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCTCAGCCTCTGGTCTCAGCTTTTTTTTTTTTTCTTTGGTGAGACAGAGTCTCGCCCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTGGTTCGCTGCAGCCTCGACCTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCTCTCAGTGGCCTCAGCTTTAATGGCACTTGCTTTAAGAAGCCTCCCTTAATCCCTGCTCACCCCACAGTGAGTCAGGCACTTTCCCTGGGATCCCATAACTTCCTGTGCCTCCCCCAACTCCAGCCCCCACCCCTCTGCCTGTGCCTCCCCCATCCCGGTCCTGACCCATCTGGCCTGTGCTCCTCATTGTGGTTGGTACGAACCACTCTAGGTCATCGCTGTGTGGTGCCAGGTCCCCCCACTGGACTGGGCACTCTGAGAAGGCAAGGGTCAGGGATGTCTTTTTATTGCTGTCAAGAGGCAAGGGCAGGTGATGGTGTGTTCTGTATGGATGACGAGTGTGGTAGTGATGGCTAACTGCCTTCCAAAAGCTGTACTTCCCCTCTGTGCTGTCACATTGCCACCAGGAACCACTGCCTAGCCAGGGACTCCATTTTCCAGCATGCCTTGCACCTAGGCAGGCTATGTCACTAGCTCTCACTGATGGAATGGCAACGGAAGTGCTATGTCCATTGCCCCAGGATGAGCTTAGTGTATTTAGCCTGGGCATTACTTTTTCCACTTCTGGCCAAAGCAGTTAGGCAGGGGGCTACCCTCAACCTCTCTTACCCTTTCCTTGGGAAGCAGAGCGTTGCAAGGCCCCAGGGATGGCAAAACCACAAAAGGGAAGGAGCTGGGTCCCTGAATCCCACTTGGAAAAGGGCCACCCCTGCCTATTGTGGGGGTAATCAACTGCTATTTTGTTGAGCTACCGAAATATCAAGGAATATTTGTTACAACAGCAAATGTACCCAGACACACATCACTAGGAACCAACCTGGTGGCTGGAGGCATCATACAGGAAGTTGGCCCAGTTGGGGTCAGTCTGCATGAATCGGAACTCAAACAGCTCCCGCAGACACAGCGTCAGGAGCTGGAAGCAAATCTGGGGTGGGGAGAATTAACAGGCATCTCAGTGTGATCTCCCTTGTGGTGCCACTGCTGGCCTGGAGAGAGACCATGAGCCTGGCCCACCCGCCCTGGGGCCATGCCCTTCCCACTGTGCCACCAGACAGCATACCTGGTTCCGCAGGTCCTGGCTTAGGCCCTGGCACTGGTCCAGGGGGACCCCTCCAGCCAGCTCCATGCCCAGCACCCATGTCGTGCACAGCTCCTTAACCACGGCTGGGACCCGGAAGAAGGGGTCATTTGCCAGCAGCTGCCTGGGGCAGAAGGAAAGGGAGGAAGGGGACTTCGTGCTTCAGGCTTGTGACCCAGCTTGAGACCTCCTCCTTGTGCTCTCAGAAGTCCTCCATGAACAGTCTGCGCCATGCCCTCCCTCCTGCCCATCTCTTGCTGCTGTCTGCCCTGGGTGATGACCAACACCTGGCTGGACTGAGATTTAACAAGTATCTCCAAGGTGCCTACTCTGCACCTGCCTCTCAACTGGGTGCTGCTGGAAACCCAGTCACCACTTCCCTACCCGAAACCCTTCTATGACTTCTGGTTGCCCCAGAAGGATGAGTTCAGGTGTATTTCAGCCTTTGCATTACTTTTTCATTAATTTATTAATTCATTCATCCCAAAAGTAGTCACTGGTATCAAAATCTGTGAAGTCTATAGTGATACCCATGGGTCAGTCCTTGCAATCACTACTCTGAACACAGGTAAATAGCGGGAAAGAATCTTCTGTGTCCATCCTTGTGCTAAATGATGCTGGGGACAGAGCAGTGAATGAACCAGTCCCTGGACCTGGCCCCCAACCCCGAGACCACACTCTCACAAACAGACGGATTATAGATTGAGGTAAGTGTGTTGGCTGGGTGCAGTGGCTTACACCTGTAATCCCAGCAGTTTGAGACACCGAGGTGGGAGAATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCGTCTTTATGAAAAACTACAAAAATTAGCTGGGCGTGGTGGCCTGCGCCTATGTTCCCAGCTACTCAGGAGGCTGAGGTGGGAAAATCACTTGAGCCTGGGAGGTCGAGGCTGGAGTGAGCTGTGATCTCACCACTGTATTCCAGCCTGGAAAACAGAGCGAGACCCTGTCTCAAAAAAATAAAAGAAGTATGTCTATGTAAGATTTGGGAGGCAGAGAATATGAGCAAGGTCTCTGGTTGAGGATCCGTGGGATGGCTGGAGGAGAGTGAGGGAGAACAGGAGGGTGGTGTGGGGTTTTATCCTAAGGGCACCCGGGAATCCTGTGGGGGACGGGGGGGTCTCTGGCCCATCACCCCACTTCACACTCTCTTCCTTGAGCTCCTCCTTTGGGGTTTGTATTTTTGTCCTTGTTGATAAAAATCTCTGATGTTTGAACTGCTCCTCATGAACCGGAGCCATGTGGGGCATTTAATCGGCACACTCCCCTTTCATCCTCACTCCACAGTGAGGGGATGCTCTCTGGAGGCCACTGTACAGATTGTATGGATGCAGGCCACGTAACCTGTTAAGGGCTGACCCAGGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTTGCAGACAAGCGTTCTAGAACAGTCTGATGATGGATACTGGCAAAAGGGTCCCTAGAGTGTTCAGCAGGGAGGGCAATCGTTGGCTTGCAGAGTTCTTGAATATAAGGGCTTATGTGATGATGCCAACCTGTTCTCAAAATGCTTCTACCACCTTCTCCCACAACCTGCAGTGCAGAAGGGATGCTGTGGAGCCCACTCTCTCTACCTCCCAGTGCTGTGGGCTCCTTGCTCTCCGTCAGTCCAGCAGAGGTAAGAGTGTGTCATTGTGTAATTAATTAAGTGCCTGTGTCGGACCACAGTGGATATGCGGCCCATCTGACACAGGAGAAGACTGCCGCTTGGGAAGTGACCTGCCCAAGCTCACAGAGGACAAAGGG
Task1_train_27154
Here is a mutation in COQ8B (coenzyme Q8B) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Nephrotic syndrome, type 9
CTGTCTGCCCTGGGTGATGACCAACACCTGGCTGGACTGAGATTTAACAAGTATCTCCAAGGTGCCTACTCTGCACCTGCCTCTCAACTGGGTGCTGCTGGAAACCCAGTCACCACTTCCCTACCCGAAACCCTTCTATGACTTCTGGTTGCCCCAGAAGGATGAGTTCAGGTGTATTTCAGCCTTTGCATTACTTTTTCATTAATTTATTAATTCATTCATCCCAAAAGTAGTCACTGGTATCAAAATCTGTGAAGTCTATAGTGATACCCATGGGTCAGTCCTTGCAATCACTACTCTGAACACAGGTAAATAGCGGGAAAGAATCTTCTGTGTCCATCCTTGTGCTAAATGATGCTGGGGACAGAGCAGTGAATGAACCAGTCCCTGGACCTGGCCCCCAACCCCGAGACCACACTCTCACAAACAGACGGATTATAGATTGAGGTAAGTGTGTTGGCTGGGTGCAGTGGCTTACACCTGTAATCCCAGCAGTTTGAGACACCGAGGTGGGAGAATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCGTCTTTATGAAAAACTACAAAAATTAGCTGGGCGTGGTGGCCTGCGCCTATGTTCCCAGCTACTCAGGAGGCTGAGGTGGGAAAATCACTTGAGCCTGGGAGGTCGAGGCTGGAGTGAGCTGTGATCTCACCACTGTATTCCAGCCTGGAAAACAGAGCGAGACCCTGTCTCAAAAAAATAAAAGAAGTATGTCTATGTAAGATTTGGGAGGCAGAGAATATGAGCAAGGTCTCTGGTTGAGGATCCGTGGGATGGCTGGAGGAGAGTGAGGGAGAACAGGAGGGTGGTGTGGGGTTTTATCCTAAGGGCACCCGGGAATCCTGTGGGGGACGGGGGGGTCTCTGGCCCATCACCCCACTTCACACTCTCTTCCTTGAGCTCCTCCTTTGGGGTTTGTATTTTTGTCCTTGTTGATAAAAATCTCTGATGTTTGAACTGCTCCTCATGAACCGGAGCCATGTGGGGCATTTAATCGGCACACTCCCCTTTCATCCTCACTCCACAGTGAGGGGATGCTCTCTGGAGGCCACTGTACAGATTGTATGGATGCAGGCCACGTAACCTGTTAAGGGCTGACCCAGGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTTGCAGACAAGCGTTCTAGAACAGTCTGATGATGGATACTGGCAAAAGGGTCCCTAGAGTGTTCAGCAGGGAGGGCAATCGTTGGCTTGCAGAGTTCTTGAATATAAGGGCTTATGTGATGATGCCAACCTGTTCTCAAAATGCTTCTACCACCTTCTCCCACAACCTGCAGTGCAGAAGGGATGCTGTGGAGCCCACTCTCTCTACCTCCCAGTGCTGTGGGCTCCTTGCTCTCCGTCAGTCCAGCAGAGGTAAGAGTGTGTCATTGTGTAATTAATTAAGTGCCTGTGTCGGACCACAGTGGATATGCGGCCCATCTGACACAGGAGAAGACTGCCGCTTGGGAAGTGACCTGCCCAAGCTCACAGAGGACAAAGGGGGTAAGCGAAGTGATGGATGAGTGGAAGGATGGATGAACAATGATTGAAAGAAAGAGAGAGTTTGCCCTACCCCACAGCTCCAGCTGCCAGAAGCTGAGGGGGCAGCTACTTCCCACCCAGCCTGGGAGGGAGGGAAGGAGGGAAGCTCAGGGCACTCAGCTCACCTGAAATTCTGGGCACAAGCCGCCTCACGACGGTAGTCACACTCCCAAGCCAGCTCCTGCTGCAAGGCCTGCAGGCTCTGCTCGGCAAACAGGCCTGTGGGGGAGGTGTGTCAGCCAGGGAAGGGCCCCGAGCGCCCACTGGTGGATGCCTTCTCCTGCCAACCCTCTCTCTCCTGTCTCCCGCGCTGTCCCTCACAGCTCCTACTCTAGGCCTGTGACCCACATCTGTCCCTCTCCTGTCTCCCACGCAGCTCCTGCTCCTGCCTCTGACCTGCATCTGTCCCTCTCCTGTCTCCCCCGCTGCCCCTTGCAGCTCCTGCTCCAGGCCTCTGACCTGCATCGTATCATCTGTCTACACATTTCCCTCGTCCTTCATAGCACCACAGGGTTCCCCGGGGTCTTCCGAAGCCTTTTCTGGGCTCTGTCTCTTGCACATGCCTGCACCCCAGTCCCTGGCAGCTCTTTCAGAGTCACGCCTGCCTCTATTCTGTCTCCTTTTCATACTGACTCTCACGTTGCTCACTGCATCTGAATCTCACTTCTGGGCCTGGCTTTCCCTCTCCCTCTCCGTCTCTTACACAAACACAACCCACCCTCCTTTCTCTAGGCGCCTCCTCACGTGCCATCCCCAGGACTGTCCTTTTCTGCTCTGCCGCACCTACAATCCCGCTCCCTGCATGCACACCCTCTGAGAGTCTGCTGCTGTATCTTGGCCCTGGGCTCCCGTCTCTCTAAGGCTCTGTTAAAATCCATAAGGCTTTTCCCACACCTGCTCATGCTCCCTGGGCTCTCCCCGCCTTGGTGTCCTTTCTGTCTCTGACACTCCCGCTCACAACGCCAGCACACCCTGCCCGTGCTCTCCTCTGGGCTCCCCCTCCTGCTTTCTCTCTCTGGGCATAGCCCCTTTGGGAGGTCAGCAGAGGAGTGGGTGGGCGCCTCACCCGCGGGCAGGGCCGCGCTCATCTTGAGTACCGCCAGCAGGTTCTGGACATCGCTCTGAATGCTCTGGGCTATGCCGGGGTACTGTAAAGGGAGAAGGGAGGGAGAGAAGGTGGGAGTCACTTCTCTGGGCTAGCAGGGTGCCCGCCCCTACCCTGCCCAGCCTCCCCTCTCACCTGGATCTTCACGGCCACCTCCGTCCCGTCCCTCAGCAGGCCCTGGTGCACCTGCCCAATTGAGGCAGCGGCAAAGGGCACCTCCTCCAAGGAGGCCACCTTGGCCTGCCAGTCCCTGCCGAGCTCCTCTTCAAGAACTCTCTGCGGGGAGTGGTCACAGCCATCATCATTGTGGCAGAGTTCATTCCCCAGGCTGAGTGCTTTACGTGTTGATAACCCCAGCACTCACCACATGCAGGGCCCTGGGCTAAGCTCTTGGCTGCCACCCCCTTTGCAGATGAGGAAACTGAGGCTCAGAGAGAGCTCCCTTGTGCAAGTGACTAGCCAGGCACTGGCAGACTGTGAGGCTCAGCCTAGCCTGTGTCCCCTGAACCTGGACTCCCTGGGCTGTTGTGGGGATTGCTATTATTTATAGTTAAGACTCATAACAATCCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTAGCCCAGGCTGGAGTGTAGTGGCACTCTCACGGCTCACTGCAGCATCAACCTCCCGAGCTCAAGCCATCCTCCTGCCTCCTGAATAGCTGGGACTACAGATATGTGCCACTGTGCCCAGCTAATTATTACTGTTATTATGTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGGTGGTCTGGAAGTCCTGAGCTCAAATGATCCTCCCACCGCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTACACGTGGCCAACCATCCTTTATTATGCTCTTATATGTTATTATTAACTCACAGTTACTGTGATCAAGAAGAGCTAAAATTTACAATGGGCTTCCTGTGGGCCAGGTCCTATTCAGAGTGGCCCAGAGAGAGGCAGTACCTGCCTGGGGCCGCATGGCGAATAAGCAGAACAGGGATGGGAGAGCAGGTGGGTGGCGGAATCCTGGATTCCATGCCTTACCCAGTTATTAGAACAGCTCATGT
CTGTCTGCCCTGGGTGATGACCAACACCTGGCTGGACTGAGATTTAACAAGTATCTCCAAGGTGCCTACTCTGCACCTGCCTCTCAACTGGGTGCTGCTGGAAACCCAGTCACCACTTCCCTACCCGAAACCCTTCTATGACTTCTGGTTGCCCCAGAAGGATGAGTTCAGGTGTATTTCAGCCTTTGCATTACTTTTTCATTAATTTATTAATTCATTCATCCCAAAAGTAGTCACTGGTATCAAAATCTGTGAAGTCTATAGTGATACCCATGGGTCAGTCCTTGCAATCACTACTCTGAACACAGGTAAATAGCGGGAAAGAATCTTCTGTGTCCATCCTTGTGCTAAATGATGCTGGGGACAGAGCAGTGAATGAACCAGTCCCTGGACCTGGCCCCCAACCCCGAGACCACACTCTCACAAACAGACGGATTATAGATTGAGGTAAGTGTGTTGGCTGGGTGCAGTGGCTTACACCTGTAATCCCAGCAGTTTGAGACACCGAGGTGGGAGAATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCGTCTTTATGAAAAACTACAAAAATTAGCTGGGCGTGGTGGCCTGCGCCTATGTTCCCAGCTACTCAGGAGGCTGAGGTGGGAAAATCACTTGAGCCTGGGAGGTCGAGGCTGGAGTGAGCTGTGATCTCACCACTGTATTCCAGCCTGGAAAACAGAGCGAGACCCTGTCTCAAAAAAATAAAAGAAGTATGTCTATGTAAGATTTGGGAGGCAGAGAATATGAGCAAGGTCTCTGGTTGAGGATCCGTGGGATGGCTGGAGGAGAGTGAGGGAGAACAGGAGGGTGGTGTGGGGTTTTATCCTAAGGGCACCCGGGAATCCTGTGGGGGACGGGGGGGTCTCTGGCCCATCACCCCACTTCACACTCTCTTCCTTGAGCTCCTCCTTTGGGGTTTGTATTTTTGTCCTTGTTGATAAAAATCTCTGATGTTTGAACTGCTCCTCATGAACCGGAGCCATGTGGGGCATTTAATCGGCACACTCCCCTTTCATCCTCACTCCACAGTGAGGGGATGCTCTCTGGAGGCCACTGTACAGATTGTATGGATGCAGGCCACGTAACCTGTTAAGGGCTGACCCAGGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTTGCAGACAAGCGTTCTAGAACAGTCTGATGATGGATACTGGCAAAAGGGTCCCTAGAGTGTTCAGCAGGGAGGGCAATCGTTGGCTTGCAGAGTTCTTGAATATAAGGGCTTATGTGATGATGCCAACCTGTTCTCAAAATGCTTCTACCACCTTCTCCCACAACCTGCAGTGCAGAAGGGATGCTGTGGAGCCCACTCTCTCTACCTCCCAGTGCTGTGGGCTCCTTGCTCTCCGTCAGTCCAGCAGAGGTAAGAGTGTGTCATTGTGTAATTAATTAAGTGCCTGTGTCGGACCACAGTGGATATGCGGCCCATCTGACACAGGAGAAGACTGCCGCTTGGGAAGTGACCTGCCCAAGCTCACAGAGGACAAAGGGGGTAAGCGAAGTGATGGATGAGTGGAAGGATGGATGAACAATGATTGAAAGAAAGAGAGAGTTTGCCCTACCCCACAGCTCCAGCTGCCAGAAGCTGAGGGGGCAGCTACTTCCCACCCAGCCTGGGAGGGAGGGAAGGAGGGAAGCTCAGGGCACTCAGCTCACCTGAAATTCTGGGCACAAGCCGCCTCACGACGGTAGCCACACTCCCAAGCCAGCTCCTGCTGCAAGGCCTGCAGGCTCTGCTCGGCAAACAGGCCTGTGGGGGAGGTGTGTCAGCCAGGGAAGGGCCCCGAGCGCCCACTGGTGGATGCCTTCTCCTGCCAACCCTCTCTCTCCTGTCTCCCGCGCTGTCCCTCACAGCTCCTACTCTAGGCCTGTGACCCACATCTGTCCCTCTCCTGTCTCCCACGCAGCTCCTGCTCCTGCCTCTGACCTGCATCTGTCCCTCTCCTGTCTCCCCCGCTGCCCCTTGCAGCTCCTGCTCCAGGCCTCTGACCTGCATCGTATCATCTGTCTACACATTTCCCTCGTCCTTCATAGCACCACAGGGTTCCCCGGGGTCTTCCGAAGCCTTTTCTGGGCTCTGTCTCTTGCACATGCCTGCACCCCAGTCCCTGGCAGCTCTTTCAGAGTCACGCCTGCCTCTATTCTGTCTCCTTTTCATACTGACTCTCACGTTGCTCACTGCATCTGAATCTCACTTCTGGGCCTGGCTTTCCCTCTCCCTCTCCGTCTCTTACACAAACACAACCCACCCTCCTTTCTCTAGGCGCCTCCTCACGTGCCATCCCCAGGACTGTCCTTTTCTGCTCTGCCGCACCTACAATCCCGCTCCCTGCATGCACACCCTCTGAGAGTCTGCTGCTGTATCTTGGCCCTGGGCTCCCGTCTCTCTAAGGCTCTGTTAAAATCCATAAGGCTTTTCCCACACCTGCTCATGCTCCCTGGGCTCTCCCCGCCTTGGTGTCCTTTCTGTCTCTGACACTCCCGCTCACAACGCCAGCACACCCTGCCCGTGCTCTCCTCTGGGCTCCCCCTCCTGCTTTCTCTCTCTGGGCATAGCCCCTTTGGGAGGTCAGCAGAGGAGTGGGTGGGCGCCTCACCCGCGGGCAGGGCCGCGCTCATCTTGAGTACCGCCAGCAGGTTCTGGACATCGCTCTGAATGCTCTGGGCTATGCCGGGGTACTGTAAAGGGAGAAGGGAGGGAGAGAAGGTGGGAGTCACTTCTCTGGGCTAGCAGGGTGCCCGCCCCTACCCTGCCCAGCCTCCCCTCTCACCTGGATCTTCACGGCCACCTCCGTCCCGTCCCTCAGCAGGCCCTGGTGCACCTGCCCAATTGAGGCAGCGGCAAAGGGCACCTCCTCCAAGGAGGCCACCTTGGCCTGCCAGTCCCTGCCGAGCTCCTCTTCAAGAACTCTCTGCGGGGAGTGGTCACAGCCATCATCATTGTGGCAGAGTTCATTCCCCAGGCTGAGTGCTTTACGTGTTGATAACCCCAGCACTCACCACATGCAGGGCCCTGGGCTAAGCTCTTGGCTGCCACCCCCTTTGCAGATGAGGAAACTGAGGCTCAGAGAGAGCTCCCTTGTGCAAGTGACTAGCCAGGCACTGGCAGACTGTGAGGCTCAGCCTAGCCTGTGTCCCCTGAACCTGGACTCCCTGGGCTGTTGTGGGGATTGCTATTATTTATAGTTAAGACTCATAACAATCCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTAGCCCAGGCTGGAGTGTAGTGGCACTCTCACGGCTCACTGCAGCATCAACCTCCCGAGCTCAAGCCATCCTCCTGCCTCCTGAATAGCTGGGACTACAGATATGTGCCACTGTGCCCAGCTAATTATTACTGTTATTATGTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGGTGGTCTGGAAGTCCTGAGCTCAAATGATCCTCCCACCGCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTACACGTGGCCAACCATCCTTTATTATGCTCTTATATGTTATTATTAACTCACAGTTACTGTGATCAAGAAGAGCTAAAATTTACAATGGGCTTCCTGTGGGCCAGGTCCTATTCAGAGTGGCCCAGAGAGAGGCAGTACCTGCCTGGGGCCGCATGGCGAATAAGCAGAACAGGGATGGGAGAGCAGGTGGGTGGCGGAATCCTGGATTCCATGCCTTACCCAGTTATTAGAACAGCTCATGT
Task1_train_27155
A variant was discovered on Chromosome 19, affecting COQ8B (coenzyme Q8B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Nephrotic syndrome, type 9
TTGGGGTTTGTATTTTTGTCCTTGTTGATAAAAATCTCTGATGTTTGAACTGCTCCTCATGAACCGGAGCCATGTGGGGCATTTAATCGGCACACTCCCCTTTCATCCTCACTCCACAGTGAGGGGATGCTCTCTGGAGGCCACTGTACAGATTGTATGGATGCAGGCCACGTAACCTGTTAAGGGCTGACCCAGGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTTGCAGACAAGCGTTCTAGAACAGTCTGATGATGGATACTGGCAAAAGGGTCCCTAGAGTGTTCAGCAGGGAGGGCAATCGTTGGCTTGCAGAGTTCTTGAATATAAGGGCTTATGTGATGATGCCAACCTGTTCTCAAAATGCTTCTACCACCTTCTCCCACAACCTGCAGTGCAGAAGGGATGCTGTGGAGCCCACTCTCTCTACCTCCCAGTGCTGTGGGCTCCTTGCTCTCCGTCAGTCCAGCAGAGGTAAGAGTGTGTCATTGTGTAATTAATTAAGTGCCTGTGTCGGACCACAGTGGATATGCGGCCCATCTGACACAGGAGAAGACTGCCGCTTGGGAAGTGACCTGCCCAAGCTCACAGAGGACAAAGGGGGTAAGCGAAGTGATGGATGAGTGGAAGGATGGATGAACAATGATTGAAAGAAAGAGAGAGTTTGCCCTACCCCACAGCTCCAGCTGCCAGAAGCTGAGGGGGCAGCTACTTCCCACCCAGCCTGGGAGGGAGGGAAGGAGGGAAGCTCAGGGCACTCAGCTCACCTGAAATTCTGGGCACAAGCCGCCTCACGACGGTAGTCACACTCCCAAGCCAGCTCCTGCTGCAAGGCCTGCAGGCTCTGCTCGGCAAACAGGCCTGTGGGGGAGGTGTGTCAGCCAGGGAAGGGCCCCGAGCGCCCACTGGTGGATGCCTTCTCCTGCCAACCCTCTCTCTCCTGTCTCCCGCGCTGTCCCTCACAGCTCCTACTCTAGGCCTGTGACCCACATCTGTCCCTCTCCTGTCTCCCACGCAGCTCCTGCTCCTGCCTCTGACCTGCATCTGTCCCTCTCCTGTCTCCCCCGCTGCCCCTTGCAGCTCCTGCTCCAGGCCTCTGACCTGCATCGTATCATCTGTCTACACATTTCCCTCGTCCTTCATAGCACCACAGGGTTCCCCGGGGTCTTCCGAAGCCTTTTCTGGGCTCTGTCTCTTGCACATGCCTGCACCCCAGTCCCTGGCAGCTCTTTCAGAGTCACGCCTGCCTCTATTCTGTCTCCTTTTCATACTGACTCTCACGTTGCTCACTGCATCTGAATCTCACTTCTGGGCCTGGCTTTCCCTCTCCCTCTCCGTCTCTTACACAAACACAACCCACCCTCCTTTCTCTAGGCGCCTCCTCACGTGCCATCCCCAGGACTGTCCTTTTCTGCTCTGCCGCACCTACAATCCCGCTCCCTGCATGCACACCCTCTGAGAGTCTGCTGCTGTATCTTGGCCCTGGGCTCCCGTCTCTCTAAGGCTCTGTTAAAATCCATAAGGCTTTTCCCACACCTGCTCATGCTCCCTGGGCTCTCCCCGCCTTGGTGTCCTTTCTGTCTCTGACACTCCCGCTCACAACGCCAGCACACCCTGCCCGTGCTCTCCTCTGGGCTCCCCCTCCTGCTTTCTCTCTCTGGGCATAGCCCCTTTGGGAGGTCAGCAGAGGAGTGGGTGGGCGCCTCACCCGCGGGCAGGGCCGCGCTCATCTTGAGTACCGCCAGCAGGTTCTGGACATCGCTCTGAATGCTCTGGGCTATGCCGGGGTACTGTAAAGGGAGAAGGGAGGGAGAGAAGGTGGGAGTCACTTCTCTGGGCTAGCAGGGTGCCCGCCCCTACCCTGCCCAGCCTCCCCTCTCACCTGGATCTTCACGGCCACCTCCGTCCCGTCCCTCAGCAGGCCCTGGTGCACCTGCCCAATTGAGGCAGCGGCAAAGGGCACCTCCTCCAAGGAGGCCACCTTGGCCTGCCAGTCCCTGCCGAGCTCCTCTTCAAGAACTCTCTGCGGGGAGTGGTCACAGCCATCATCATTGTGGCAGAGTTCATTCCCCAGGCTGAGTGCTTTACGTGTTGATAACCCCAGCACTCACCACATGCAGGGCCCTGGGCTAAGCTCTTGGCTGCCACCCCCTTTGCAGATGAGGAAACTGAGGCTCAGAGAGAGCTCCCTTGTGCAAGTGACTAGCCAGGCACTGGCAGACTGTGAGGCTCAGCCTAGCCTGTGTCCCCTGAACCTGGACTCCCTGGGCTGTTGTGGGGATTGCTATTATTTATAGTTAAGACTCATAACAATCCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTAGCCCAGGCTGGAGTGTAGTGGCACTCTCACGGCTCACTGCAGCATCAACCTCCCGAGCTCAAGCCATCCTCCTGCCTCCTGAATAGCTGGGACTACAGATATGTGCCACTGTGCCCAGCTAATTATTACTGTTATTATGTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGGTGGTCTGGAAGTCCTGAGCTCAAATGATCCTCCCACCGCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTACACGTGGCCAACCATCCTTTATTATGCTCTTATATGTTATTATTAACTCACAGTTACTGTGATCAAGAAGAGCTAAAATTTACAATGGGCTTCCTGTGGGCCAGGTCCTATTCAGAGTGGCCCAGAGAGAGGCAGTACCTGCCTGGGGCCGCATGGCGAATAAGCAGAACAGGGATGGGAGAGCAGGTGGGTGGCGGAATCCTGGATTCCATGCCTTACCCAGTTATTAGAACAGCTCATGTCCTGGGCACTTACTTGGTGCCAGGCGCCGTGCCAACCTATTACAGACACGATCTCCTTTAATTAAAAAAACAGTAATAATCACAGCTAACACCTGCATGTTGCTCACAGTGAATCAGGGGCCGTTCTCAGTGCTCAGTGTAAACTGATTTATGTGACCCTATGATGTGGGTGTGGCTGTCACTATCGCCATTTCCCAGGGAAGGGAACTGAAGCACAGAGAGGTCAGGCTGCTGTTCCCTGTTTTAATCACCACAGCAATGCTAGGAGGTGTGTACTCTGGTGATTCCCATTTTACAGATGGGGAAAGTGAGGCTCAGAGGCAGGGAGTGGGGCAGTGAAGCCAGGAAGGTCAGGCAGGTCAGAGGAGATGGAGCCTGCCTCCCTCACCGCCCTCCCCCACTGGGCACTCACCAGCATCTGCCAGCGGGGCATGAAGTCGGCGCTCTGGCGGACCCGCTCAAAGATGTGCTGCAGCTGAGGGCTGATGAAGCTGTTGTCTTGGGAGACAGTGGAACCAGGGGGGAAGTAAGCGAAGAGGTGAGGAGGGACCCCGTGTGAGTATCTGAAGTTGGGGCCTGTTGGTGGGTAGGGCTGGGGTAGAAGGGAGGTCAGGGGTCAGGAGTCGAGGGTCATGCTGTACCCTGGATGCTGAGCATCTGGCCAACCTTGAGGGCGGCCCCTCGAACTGTACATAAGGTCTGCACAATCCGCTCGGCATTGGCCTCCGACAGGAAGGGGCTGGAGTCCAGCCCAGAACCACCCTCTGGGGAGAGAACAACCATTAGAATTATAACCACAAATATCATCACTGCGGCCAGGCCCGGCGGCCCACGCCTGTAATCCCAGCACTTTGGGAGACCCAGGCGGGATGAACACAGGAGTCTGAGACCAGTCTGGGCAACAGTGACATCCTTTCTCTATTAAAAAAAATATATATCATCTGCACACCAACAGG
TTGGGGTTTGTATTTTTGTCCTTGTTGATAAAAATCTCTGATGTTTGAACTGCTCCTCATGAACCGGAGCCATGTGGGGCATTTAATCGGCACACTCCCCTTTCATCCTCACTCCACAGTGAGGGGATGCTCTCTGGAGGCCACTGTACAGATTGTATGGATGCAGGCCACGTAACCTGTTAAGGGCTGACCCAGGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTTGCAGACAAGCGTTCTAGAACAGTCTGATGATGGATACTGGCAAAAGGGTCCCTAGAGTGTTCAGCAGGGAGGGCAATCGTTGGCTTGCAGAGTTCTTGAATATAAGGGCTTATGTGATGATGCCAACCTGTTCTCAAAATGCTTCTACCACCTTCTCCCACAACCTGCAGTGCAGAAGGGATGCTGTGGAGCCCACTCTCTCTACCTCCCAGTGCTGTGGGCTCCTTGCTCTCCGTCAGTCCAGCAGAGGTAAGAGTGTGTCATTGTGTAATTAATTAAGTGCCTGTGTCGGACCACAGTGGATATGCGGCCCATCTGACACAGGAGAAGACTGCCGCTTGGGAAGTGACCTGCCCAAGCTCACAGAGGACAAAGGGGGTAAGCGAAGTGATGGATGAGTGGAAGGATGGATGAACAATGATTGAAAGAAAGAGAGAGTTTGCCCTACCCCACAGCTCCAGCTGCCAGAAGCTGAGGGGGCAGCTACTTCCCACCCAGCCTGGGAGGGAGGGAAGGAGGGAAGCTCAGGGCACTCAGCTCACCTGAAATTCTGGGCACAAGCCGCCTCACGACGGTAGTCACACTCCCAAGCCAGCTCCTGCTGCAAGGCCTGCAGGCTCTGCTCGGCAAACAGGCCTGTGGGGGAGGTGTGTCAGCCAGGGAAGGGCCCCGAGCGCCCACTGGTGGATGCCTTCTCCTGCCAACCCTCTCTCTCCTGTCTCCCGCGCTGTCCCTCACAGCTCCTACTCTAGGCCTGTGACCCACATCTGTCCCTCTCCTGTCTCCCACGCAGCTCCTGCTCCTGCCTCTGACCTGCATCTGTCCCTCTCCTGTCTCCCCCGCTGCCCCTTGCAGCTCCTGCTCCAGGCCTCTGACCTGCATCGTATCATCTGTCTACACATTTCCCTCGTCCTTCATAGCACCACAGGGTTCCCCGGGGTCTTCCGAAGCCTTTTCTGGGCTCTGTCTCTTGCACATGCCTGCACCCCAGTCCCTGGCAGCTCTTTCAGAGTCACGCCTGCCTCTATTCTGTCTCCTTTTCATACTGACTCTCACGTTGCTCACTGCATCTGAATCTCACTTCTGGGCCTGGCTTTCCCTCTCCCTCTCCGTCTCTTACACAAACACAACCCACCCTCCTTTCTCTAGGCGCCTCCTCACGTGCCATCCCCAGGACTGTCCTTTTCTGCTCTGCCGCACCTACAATCCCGCTCCCTGCATGCACACCCTCTGAGAGTCTGCTGCTGTATCTTGGCCCTGGGCTCCCGTCTCTCTAAGGCTCTGTTAAAATCCATAAGGCTTTTCCCACACCTGCTCATGCTCCCTGGGCTCTCCCCGCCTTGGTGTCCTTTCTGTCTCTGACACTCCCGCTCACAACGCCAGCACACCCTGCCCGTGCTCTCCTCTGGGCTCCCCCTCCTGCTTTCTCTCTCTGGGCATAGCCCCTTTGGGAGGTCAGCAGAGGAGTGGGTGGGCGCCTCACCCGCGGGCAGGGCCGCGCTCATCTTGAGTACCGCCAGCAGGTTCTGGACATTGCTCTGAATGCTCTGGGCTATGCCGGGGTACTGTAAAGGGAGAAGGGAGGGAGAGAAGGTGGGAGTCACTTCTCTGGGCTAGCAGGGTGCCCGCCCCTACCCTGCCCAGCCTCCCCTCTCACCTGGATCTTCACGGCCACCTCCGTCCCGTCCCTCAGCAGGCCCTGGTGCACCTGCCCAATTGAGGCAGCGGCAAAGGGCACCTCCTCCAAGGAGGCCACCTTGGCCTGCCAGTCCCTGCCGAGCTCCTCTTCAAGAACTCTCTGCGGGGAGTGGTCACAGCCATCATCATTGTGGCAGAGTTCATTCCCCAGGCTGAGTGCTTTACGTGTTGATAACCCCAGCACTCACCACATGCAGGGCCCTGGGCTAAGCTCTTGGCTGCCACCCCCTTTGCAGATGAGGAAACTGAGGCTCAGAGAGAGCTCCCTTGTGCAAGTGACTAGCCAGGCACTGGCAGACTGTGAGGCTCAGCCTAGCCTGTGTCCCCTGAACCTGGACTCCCTGGGCTGTTGTGGGGATTGCTATTATTTATAGTTAAGACTCATAACAATCCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTAGCCCAGGCTGGAGTGTAGTGGCACTCTCACGGCTCACTGCAGCATCAACCTCCCGAGCTCAAGCCATCCTCCTGCCTCCTGAATAGCTGGGACTACAGATATGTGCCACTGTGCCCAGCTAATTATTACTGTTATTATGTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGGTGGTCTGGAAGTCCTGAGCTCAAATGATCCTCCCACCGCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTACACGTGGCCAACCATCCTTTATTATGCTCTTATATGTTATTATTAACTCACAGTTACTGTGATCAAGAAGAGCTAAAATTTACAATGGGCTTCCTGTGGGCCAGGTCCTATTCAGAGTGGCCCAGAGAGAGGCAGTACCTGCCTGGGGCCGCATGGCGAATAAGCAGAACAGGGATGGGAGAGCAGGTGGGTGGCGGAATCCTGGATTCCATGCCTTACCCAGTTATTAGAACAGCTCATGTCCTGGGCACTTACTTGGTGCCAGGCGCCGTGCCAACCTATTACAGACACGATCTCCTTTAATTAAAAAAACAGTAATAATCACAGCTAACACCTGCATGTTGCTCACAGTGAATCAGGGGCCGTTCTCAGTGCTCAGTGTAAACTGATTTATGTGACCCTATGATGTGGGTGTGGCTGTCACTATCGCCATTTCCCAGGGAAGGGAACTGAAGCACAGAGAGGTCAGGCTGCTGTTCCCTGTTTTAATCACCACAGCAATGCTAGGAGGTGTGTACTCTGGTGATTCCCATTTTACAGATGGGGAAAGTGAGGCTCAGAGGCAGGGAGTGGGGCAGTGAAGCCAGGAAGGTCAGGCAGGTCAGAGGAGATGGAGCCTGCCTCCCTCACCGCCCTCCCCCACTGGGCACTCACCAGCATCTGCCAGCGGGGCATGAAGTCGGCGCTCTGGCGGACCCGCTCAAAGATGTGCTGCAGCTGAGGGCTGATGAAGCTGTTGTCTTGGGAGACAGTGGAACCAGGGGGGAAGTAAGCGAAGAGGTGAGGAGGGACCCCGTGTGAGTATCTGAAGTTGGGGCCTGTTGGTGGGTAGGGCTGGGGTAGAAGGGAGGTCAGGGGTCAGGAGTCGAGGGTCATGCTGTACCCTGGATGCTGAGCATCTGGCCAACCTTGAGGGCGGCCCCTCGAACTGTACATAAGGTCTGCACAATCCGCTCGGCATTGGCCTCCGACAGGAAGGGGCTGGAGTCCAGCCCAGAACCACCCTCTGGGGAGAGAACAACCATTAGAATTATAACCACAAATATCATCACTGCGGCCAGGCCCGGCGGCCCACGCCTGTAATCCCAGCACTTTGGGAGACCCAGGCGGGATGAACACAGGAGTCTGAGACCAGTCTGGGCAACAGTGACATCCTTTCTCTATTAAAAAAAATATATATCATCTGCACACCAACAGG
Task1_train_27156
Gene TGFB1 (transforming growth factor beta 1), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Diaphyseal dysplasia
GCATTCCTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGCGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGA
GCATTCCTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACGGGAGCAGTGGGCGCTAAGGCGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGA
Task1_train_27157
A variant affecting Chromosome 19, within the gene TGFB1 (transforming growth factor beta 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not provided
CTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGCGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGATTATAG
CTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCCGTGGGCGCTAAGGCGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGATTATAG
Task1_train_27158
A change on Chromosome 19 affects gene TGFB1 (transforming growth factor beta 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Diaphyseal dysplasia
CTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGCGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGATTATAG
CTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCGGTGGGCGCTAAGGCGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGATTATAG
Task1_train_27159
This alteration in TGFB1 (transforming growth factor beta 1) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Inborn genetic diseases
GCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGCGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGATTATAGGCATAAGCCACCAT
GCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGTGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGATTATAGGCATAAGCCACCAT
Task1_train_27160
This genomic variant is located on Chromosome 19, within the TGFB1 (transforming growth factor beta 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Diaphyseal dysplasia
GCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGCGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGATTATAGGCATAAGCCACCAT
GCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGTGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGATTATAGGCATAAGCCACCAT
Task1_train_27161
This sequence change occurs on Chromosome 19, altering TGFB1 (transforming growth factor beta 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; See cases
CCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGCGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGATTATAGGCATAAGCCACCATG
CCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGCAAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGATTATAGGCATAAGCCACCATG
Task1_train_27162
A variant affecting Chromosome 19, within the gene TGFB1 (transforming growth factor beta 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Diaphyseal dysplasia
CCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGCGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGATTATAGGCATAAGCCACCATG
CCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGCAAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGATTCTCCCACCTCAGTCTCCCAAGCAGCTGGAACTACAGGCACGTAACAGCATGCATGGCTAATTTTTGTATTTTTGTGTAGAGACCGGGTTTCGCCATGTTGCCCAGGCTGCTCTCAAAACTCCTGAGCTCCAGTGATCCATCCTCCTTGGCCTTCAAAAGTGCTGGGATTATAGGCATAAGCCACCATG
Task1_train_27163
A mutation on Chromosome 19 affecting LOC130064510, TGFB1 (ATAC-STARR-seq lymphoblastoid silent region 10661| transforming growth factor beta 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Diaphyseal dysplasia
TACGGCCCCCTTCGATCCTCCTCCTCCTCCCCAGTCTCCCTCCCCACCCAGCCCCAGTAAGCCCTATTCTTGGCCCGGAGGTTACTCAGCAAACCCCAAAGGAAAGGCAGAGCCTTGGCTGGGGAAGACAGATAGGGAGGAAGACAGAGAGGAGGGAGAGGAAGGGTTGGAGGGTGATGCAGAGAGGGAGAGGCGGGGAGATGTCAGAGACGGAGACGAGGCAACAGGACCGTGGAGGAGAAAAATAGAAAGGGAGAGAAAATAGTCGGAGAGACAAAAACCAGGAGACCCATGCGTGGACAGAAAGACTAACGGAGACGAAAAGAAAGAGGCAGATGGGGAGACACGTGCGAGACGAGACACATGTGCATTTGTTGGGGAGAAGAGGATTGGAGGTGTCAGTGTTAAAGGAACCTCTACAACGAAGGTGAAGCCACGGAAGATAAGGTAAGGCTGAGACTTGGGTGCGGAGTGCGCGTCATTGGGCTGGAGCTGTAAACTGGCGCAGAAATGGGCAGGGAACCCGCAAGCCCACACCGCCCAAGAGTCAGTGAAACCTGAGGGATCTTCCCCAAGGCTCTGAACCACGCGGGACGCCTGGGTCCTCGCATGGATGCCGACGGGGCCGGCTGAGTGGGAGCCCCGCCCGTAGCTGGGGTGAGGAGGGCGGGAGGCGCCGCAGCCAGGAGGGCGGGGACCAGACCTGCCCCGTCTCGCCCCGGGCTCCGCGAGCGATCCCCGCCTCCGCCGGGGGCATGGGAAGGAAAGGGAAGGGAGGGGGATGAGGCCGCCGGACGCTGGGGTTTCCCCAGCCACCCTGAGAGGAACTGGGACTTTGGGGTCCAGACTGCCAGCGTTTAGCGCAGCGGGGTCCTCCTGCCCCTTGGTGGAAGCGCAGGCTCCTCCCCCCGCGCGTGGCACCCACGTGGGGCTTTCTCACTCCTCCCAGCTTGGTTTTCTCACCTCGGTCTTGTAGAGTCACCCCCCACCCAGCACTTCCCCTGCGGCTGGACTCCGCTCAGCCCATTCCCCTGCATCCTGCGGGGAATGCAGCGTGGATGGCGCTGGGTATCTCTCCTCCTCCCCGCTCACACCACCTTTCCCACGCCTGTCTCCCCTCTCGGTAAAGCCCTTCCCATGACCCAGGACTCTAGGTCTTCTGGAAGCTCGATTCCTCCGCTGGGCTCCCCACTCTGTCCCTCACGTCCCTGTGTGAAACACCGAGGACACCTCTGCATCCCGGGCGCCCTCCCGAGTCTCCGCTCCTCTCCCGCTTGCCTCCTCCTTCCAATAACCTCCCGTCCCTTTCTCCCCACATTTATCACACGCACCTCTGTTTCTCTTTCTACGACTCTCCCCCACCCCCGCATCCCGCGTGTTCCTGGCAGCCTCTGGAAGTGGGTCCGCTCTCACTTTCCTGGCACCCTCTGGGGTTGCCTTCATCTAGCTTTTCTGTCCTTCTTGAATCTTTCCACCTCAGGACCCCCAAGCTCTGGGTCAACTTTCTCCAGCGCCTCTCCTTTCCCAAATGCTGGGGTCTTCGCTTCTCCCACACCAGGCTCCCTTCTCTGCACCTGGCACCCCACGACCCCCCCCCCCATTCAACGCGTCCTGGAAGAGGGAGCCTTCTACCCTCCCCCTATTGCTTGTCTCCCTCTAGGGGACTGCCCCCACGACCCCGCATGTTTCTGTCGCACTCTAGAAGCGGTCCACTTCGCTATCTCCTCCTCTCCAAGACCAGACACCTGGGTGGTAGGGGGCTCAGTGCCATCCTCTTTCGGACACCCCCCTCCCACCATCACACGTTCCCTTTGCCCCGGGGTGTCCTCTTCCTCCAGCCAGTTTCTTCTGCCAGTCACTTCCTACCCGTGGCCCCGGCACTCCGGCGCCCCCTGGGGGCCCCCCTCCCGGCTCCCCTGCCCCTCCGAGCTCACCGTTGTGGGTTTCCACCATTAGCACGCGGGTGACCTCCTTGGCGTAGTAGTCGGCCTCAGGCTCGGGCTCCGGTTCTGCACTCTCCCCGGCCACCCGGTCGCGGGTGCTGTTGTACAGGGCGAGCACGGCCTCGGGCAGCGGGCCGGGCGGCACCTCCCCCTGGCTCGGGGGGCTGGCGAGCCGCAGCTTGGACAGGATCTGGCCGCGGATGGCCTCGATGCGCTTCCGCTTCACCAGCTCCATGTCGATAGTCTTGCAGGTGGATAGTCCCGCGGCCGGCCGGCCAGGCGTCAGCACCAGTAGCCACAGCAGCGGTAGCAGCAGCGGCAGCAGCCGCAGCCCGGAGGGCGGCATGGGGGAGGCGGCGCCCCCCGGCACTGCCGAGAGCGCGAACAGGGCTGGTGTGGTGGGGAGGCCCCGCCCCTGCAGGGGCTGGGGGTCTCCCGGCAAAAGGTAGGAGGGCCTCGAGGGAAAGCTGAGGTCCTCAGGGAGAAGGGCGCAGTGGTGGAGGGGAGGCTTGGACCGGGGGTGTCTCAGTATCCCACGGAAATAACCTAGATGGGCGCGATCTGGTACCAGAAGGTGGGTGGTCTTGAATAGGGGATCTGTGGCAGGTCGGAGAGAGATCCGTCTCCTGGAGGAGAAAGGGTCTAGGATGCGCGGGGGCTCAGGAGACAGGCCGGGGATGAAGGCGGCGTGCAGGGGGTGCGCCCGAGGTCTGGGGAAAAGTCTTTGCGGGAGGCCGGGTCGGCGACTCCCGAGGGCTGGTCCGGAATGGGGGCGCCTGAGGGACGCCGTGTAGGGGGCAGGGAGGGAGCAAGCGTCCCCGGCGGCAAAGGGAGGCGGTCTGGGGTCCCCAAGTCCTGCCTCCTCGCGGGGCAGCGTCGCGCCAAGAGGTCCCCGCGCCTCCGGCTCCCAGCGGCAACGGAAAAGTCTCAAAAGTTTTTTTCCTCTTCTCCCGACCAGCTCGTCCCTCCTCCCGCTCCTCCTCCCCCTCCTCCCCGCAGTGGCGGGGGCGGCGGCGGCTCGTCTCAGACTCTGGGGCCTCAGGCTGCTCCTCGGCGACTCCTTCCTCCGCTCCGGGCCGAGGCCGGCCCCGCGGGCGGCTCAGAGCCGGGGGGGTGCCCCGGACGGGGCGTCCCCCCTGCCCCCGGCCGGGGCCCTCGCTGTCTGGCTGCTCCGCGGAGGGAGGTGGGAGGGAGATGGCCCAGGGCGCGAAGGGCGGCGGCGGCGGGGACCGGCTGGGTCGGCAGGGGGTTTTGAAGCCGCCCCCGGCCCCACCCAGGAAGCGCACGGGGCGGGAGCGGGGGCGGCCCCCAGGGGGAGGGCATGGGGGGGCTGGGCCACCGTCCTCATCTCGCGTGGGCGGGCTCCGAGGGGGGTCCCTTCAGCCCTGGGGGAAAGGGGGCGGGCACCCCGGCTCCGCCCCGCAAACAGGGTGCTGCCTCCTGGCGGCCAAGCGCCACCAAAGCGGGTGATCCAGATGCGCTGTGGCTTTGCGGGCGGTGTGGGTCACCAGAGAAAGAGGACCAGGCGGAGAAGGCTTAATCCGGGGGATGAGACACAGGGGAGCCGACCAGAGGAGGGGGACCCAGAACGGAAGGAGAGTCAGGCTGGGAAACAAGGTAGGAGAAGAGGGTCTGTCAACATGGGGGCCTCCGGAGGGTGTCAGTGGGAGGAGGGGGCAACAGGACACCTGAAGGATGGAAGGGTCAGGAGGCAGACACCTGTAAGAATTGCTCTCCTTTACTGAGCACCTCCCATGTGGCTAAGCAGCCTCCTGTCACTCAACACCCTGCGACCCCATACATTTACTGTCCCCAATTTACAGATAGGGAAACTGGGCCCAGAGGGACCCCGAGGTCCTAGAAAGGACAGAAGCGGTGCCATGCCTTAGCTGGGGTCAGCTCTGACAGTCTCTAGAGTCTGTGCTCTTGACCACTGTGCCATCCTCCCCCATCACTGGGTGTCCGGGGTGTGGATGGTGGTGACGTTGGAGGCAGAGTCCCTCAGCACTCCACGCCGTAGCGGTCGAAGTTGCGGAGCAGCAGGCCGATCTCCAGGTGCACGGTGCCACCAGCAGCTGTGTGCAGGCGATAGCGGTCGGCCCCACTGTAGATGGTGTCCCCATGCAGCAGCTGCGGCCCACCACCCACGAAAG
TACGGCCCCCTTCGATCCTCCTCCTCCTCCCCAGTCTCCCTCCCCACCCAGCCCCAGTAAGCCCTATTCTTGGCCCGGAGGTTACTCAGCAAACCCCAAAGGAAAGGCAGAGCCTTGGCTGGGGAAGACAGATAGGGAGGAAGACAGAGAGGAGGGAGAGGAAGGGTTGGAGGGTGATGCAGAGAGGGAGAGGCGGGGAGATGTCAGAGACGGAGACGAGGCAACAGGACCGTGGAGGAGAAAAATAGAAAGGGAGAGAAAATAGTCGGAGAGACAAAAACCAGGAGACCCATGCGTGGACAGAAAGACTAACGGAGACGAAAAGAAAGAGGCAGATGGGGAGACACGTGCGAGACGAGACACATGTGCATTTGTTGGGGAGAAGAGGATTGGAGGTGTCAGTGTTAAAGGAACCTCTACAACGAAGGTGAAGCCACGGAAGATAAGGTAAGGCTGAGACTTGGGTGCGGAGTGCGCGTCATTGGGCTGGAGCTGTAAACTGGCGCAGAAATGGGCAGGGAACCCGCAAGCCCACACCGCCCAAGAGTCAGTGAAACCTGAGGGATCTTCCCCAAGGCTCTGAACCACGCGGGACGCCTGGGTCCTCGCATGGATGCCGACGGGGCCGGCTGAGTGGGAGCCCCGCCCGTAGCTGGGGTGAGGAGGGCGGGAGGCGCCGCAGCCAGGAGGGCGGGGACCAGACCTGCCCCGTCTCGCCCCGGGCTCCGCGAGCGATCCCCGCCTCCGCCGGGGGCATGGGAAGGAAAGGGAAGGGAGGGGGATGAGGCCGCCGGACGCTGGGGTTTCCCCAGCCACCCTGAGAGGAACTGGGACTTTGGGGTCCAGACTGCCAGCGTTTAGCGCAGCGGGGTCCTCCTGCCCCTTGGTGGAAGCGCAGGCTCCTCCCCCCGCGCGTGGCACCCACGTGGGGCTTTCTCACTCCTCCCAGCTTGGTTTTCTCACCTCGGTCTTGTAGAGTCACCCCCCACCCAGCACTTCCCCTGCGGCTGGACTCCGCTCAGCCCATTCCCCTGCATCCTGCGGGGAATGCAGCGTGGATGGCGCTGGGTATCTCTCCTCCTCCCCGCTCACACCACCTTTCCCACGCCTGTCTCCCCTCTCGGTAAAGCCCTTCCCATGACCCAGGACTCTAGGTCTTCTGGAAGCTCGATTCCTCCGCTGGGCTCCCCACTCTGTCCCTCACGTCCCTGTGTGAAACACCGAGGACACCTCTGCATCCCGGGCGCCCTCCCGAGTCTCCGCTCCTCTCCCGCTTGCCTCCTCCTTCCAATAACCTCCCGTCCCTTTCTCCCCACATTTATCACACGCACCTCTGTTTCTCTTTCTACGACTCTCCCCCACCCCCGCATCCCGCGTGTTCCTGGCAGCCTCTGGAAGTGGGTCCGCTCTCACTTTCCTGGCACCCTCTGGGGTTGCCTTCATCTAGCTTTTCTGTCCTTCTTGAATCTTTCCACCTCAGGACCCCCAAGCTCTGGGTCAACTTTCTCCAGCGCCTCTCCTTTCCCAAATGCTGGGGTCTTCGCTTCTCCCACACCAGGCTCCCTTCTCTGCACCTGGCACCCCACGACCCCCCCCCCCATTCAACGCGTCCTGGAAGAGGGAGCCTTCTACCCTCCCCCTATTGCTTGTCTCCCTCTAGGGGACTGCCCCCACGACCCCGCATGTTTCTGTCGCACTCTAGAAGCGGTCCACTTCGCTATCTCCTCCTCTCCAAGACCAGACACCTGGGTGGTAGGGGGCTCAGTGCCATCCTCTTTCGGACACCCCCCTCCCACCATCACACGTTCCCTTTGCCCCGGGGTGTCCTCTTCCTCCAGCCAGTTTCTTCTGCCAGTCACTTCCTACCCGTGGCCCCGGCACTCCGGCGCCCCCTGGGGGCCCCCCTCCCGGCTCCCCTGCCCCTCCGAGCTCACCGTTGTGGGTTTCCACCATTAGCACGCGGGTGACCTCCTTGGCGTAGTAGTCGGCCTCAGGCTCGGGCTCCGGTTCTGCACTCTCCCCGGCCACCCGGTCGCGGGTGCTGTTGTGCAGGGCGAGCACGGCCTCGGGCAGCGGGCCGGGCGGCACCTCCCCCTGGCTCGGGGGGCTGGCGAGCCGCAGCTTGGACAGGATCTGGCCGCGGATGGCCTCGATGCGCTTCCGCTTCACCAGCTCCATGTCGATAGTCTTGCAGGTGGATAGTCCCGCGGCCGGCCGGCCAGGCGTCAGCACCAGTAGCCACAGCAGCGGTAGCAGCAGCGGCAGCAGCCGCAGCCCGGAGGGCGGCATGGGGGAGGCGGCGCCCCCCGGCACTGCCGAGAGCGCGAACAGGGCTGGTGTGGTGGGGAGGCCCCGCCCCTGCAGGGGCTGGGGGTCTCCCGGCAAAAGGTAGGAGGGCCTCGAGGGAAAGCTGAGGTCCTCAGGGAGAAGGGCGCAGTGGTGGAGGGGAGGCTTGGACCGGGGGTGTCTCAGTATCCCACGGAAATAACCTAGATGGGCGCGATCTGGTACCAGAAGGTGGGTGGTCTTGAATAGGGGATCTGTGGCAGGTCGGAGAGAGATCCGTCTCCTGGAGGAGAAAGGGTCTAGGATGCGCGGGGGCTCAGGAGACAGGCCGGGGATGAAGGCGGCGTGCAGGGGGTGCGCCCGAGGTCTGGGGAAAAGTCTTTGCGGGAGGCCGGGTCGGCGACTCCCGAGGGCTGGTCCGGAATGGGGGCGCCTGAGGGACGCCGTGTAGGGGGCAGGGAGGGAGCAAGCGTCCCCGGCGGCAAAGGGAGGCGGTCTGGGGTCCCCAAGTCCTGCCTCCTCGCGGGGCAGCGTCGCGCCAAGAGGTCCCCGCGCCTCCGGCTCCCAGCGGCAACGGAAAAGTCTCAAAAGTTTTTTTCCTCTTCTCCCGACCAGCTCGTCCCTCCTCCCGCTCCTCCTCCCCCTCCTCCCCGCAGTGGCGGGGGCGGCGGCGGCTCGTCTCAGACTCTGGGGCCTCAGGCTGCTCCTCGGCGACTCCTTCCTCCGCTCCGGGCCGAGGCCGGCCCCGCGGGCGGCTCAGAGCCGGGGGGGTGCCCCGGACGGGGCGTCCCCCCTGCCCCCGGCCGGGGCCCTCGCTGTCTGGCTGCTCCGCGGAGGGAGGTGGGAGGGAGATGGCCCAGGGCGCGAAGGGCGGCGGCGGCGGGGACCGGCTGGGTCGGCAGGGGGTTTTGAAGCCGCCCCCGGCCCCACCCAGGAAGCGCACGGGGCGGGAGCGGGGGCGGCCCCCAGGGGGAGGGCATGGGGGGGCTGGGCCACCGTCCTCATCTCGCGTGGGCGGGCTCCGAGGGGGGTCCCTTCAGCCCTGGGGGAAAGGGGGCGGGCACCCCGGCTCCGCCCCGCAAACAGGGTGCTGCCTCCTGGCGGCCAAGCGCCACCAAAGCGGGTGATCCAGATGCGCTGTGGCTTTGCGGGCGGTGTGGGTCACCAGAGAAAGAGGACCAGGCGGAGAAGGCTTAATCCGGGGGATGAGACACAGGGGAGCCGACCAGAGGAGGGGGACCCAGAACGGAAGGAGAGTCAGGCTGGGAAACAAGGTAGGAGAAGAGGGTCTGTCAACATGGGGGCCTCCGGAGGGTGTCAGTGGGAGGAGGGGGCAACAGGACACCTGAAGGATGGAAGGGTCAGGAGGCAGACACCTGTAAGAATTGCTCTCCTTTACTGAGCACCTCCCATGTGGCTAAGCAGCCTCCTGTCACTCAACACCCTGCGACCCCATACATTTACTGTCCCCAATTTACAGATAGGGAAACTGGGCCCAGAGGGACCCCGAGGTCCTAGAAAGGACAGAAGCGGTGCCATGCCTTAGCTGGGGTCAGCTCTGACAGTCTCTAGAGTCTGTGCTCTTGACCACTGTGCCATCCTCCCCCATCACTGGGTGTCCGGGGTGTGGATGGTGGTGACGTTGGAGGCAGAGTCCCTCAGCACTCCACGCCGTAGCGGTCGAAGTTGCGGAGCAGCAGGCCGATCTCCAGGTGCACGGTGCCACCAGCAGCTGTGTGCAGGCGATAGCGGTCGGCCCCACTGTAGATGGTGTCCCCATGCAGCAGCTGCGGCCCACCACCCACGAAAG
Task1_train_27164
This variant affects the gene B9D2 (B9 domain containing 2) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Joubert syndrome and related disorders
TGGACAGGATCTGGCCGCGGATGGCCTCGATGCGCTTCCGCTTCACCAGCTCCATGTCGATAGTCTTGCAGGTGGATAGTCCCGCGGCCGGCCGGCCAGGCGTCAGCACCAGTAGCCACAGCAGCGGTAGCAGCAGCGGCAGCAGCCGCAGCCCGGAGGGCGGCATGGGGGAGGCGGCGCCCCCCGGCACTGCCGAGAGCGCGAACAGGGCTGGTGTGGTGGGGAGGCCCCGCCCCTGCAGGGGCTGGGGGTCTCCCGGCAAAAGGTAGGAGGGCCTCGAGGGAAAGCTGAGGTCCTCAGGGAGAAGGGCGCAGTGGTGGAGGGGAGGCTTGGACCGGGGGTGTCTCAGTATCCCACGGAAATAACCTAGATGGGCGCGATCTGGTACCAGAAGGTGGGTGGTCTTGAATAGGGGATCTGTGGCAGGTCGGAGAGAGATCCGTCTCCTGGAGGAGAAAGGGTCTAGGATGCGCGGGGGCTCAGGAGACAGGCCGGGGATGAAGGCGGCGTGCAGGGGGTGCGCCCGAGGTCTGGGGAAAAGTCTTTGCGGGAGGCCGGGTCGGCGACTCCCGAGGGCTGGTCCGGAATGGGGGCGCCTGAGGGACGCCGTGTAGGGGGCAGGGAGGGAGCAAGCGTCCCCGGCGGCAAAGGGAGGCGGTCTGGGGTCCCCAAGTCCTGCCTCCTCGCGGGGCAGCGTCGCGCCAAGAGGTCCCCGCGCCTCCGGCTCCCAGCGGCAACGGAAAAGTCTCAAAAGTTTTTTTCCTCTTCTCCCGACCAGCTCGTCCCTCCTCCCGCTCCTCCTCCCCCTCCTCCCCGCAGTGGCGGGGGCGGCGGCGGCTCGTCTCAGACTCTGGGGCCTCAGGCTGCTCCTCGGCGACTCCTTCCTCCGCTCCGGGCCGAGGCCGGCCCCGCGGGCGGCTCAGAGCCGGGGGGGTGCCCCGGACGGGGCGTCCCCCCTGCCCCCGGCCGGGGCCCTCGCTGTCTGGCTGCTCCGCGGAGGGAGGTGGGAGGGAGATGGCCCAGGGCGCGAAGGGCGGCGGCGGCGGGGACCGGCTGGGTCGGCAGGGGGTTTTGAAGCCGCCCCCGGCCCCACCCAGGAAGCGCACGGGGCGGGAGCGGGGGCGGCCCCCAGGGGGAGGGCATGGGGGGGCTGGGCCACCGTCCTCATCTCGCGTGGGCGGGCTCCGAGGGGGGTCCCTTCAGCCCTGGGGGAAAGGGGGCGGGCACCCCGGCTCCGCCCCGCAAACAGGGTGCTGCCTCCTGGCGGCCAAGCGCCACCAAAGCGGGTGATCCAGATGCGCTGTGGCTTTGCGGGCGGTGTGGGTCACCAGAGAAAGAGGACCAGGCGGAGAAGGCTTAATCCGGGGGATGAGACACAGGGGAGCCGACCAGAGGAGGGGGACCCAGAACGGAAGGAGAGTCAGGCTGGGAAACAAGGTAGGAGAAGAGGGTCTGTCAACATGGGGGCCTCCGGAGGGTGTCAGTGGGAGGAGGGGGCAACAGGACACCTGAAGGATGGAAGGGTCAGGAGGCAGACACCTGTAAGAATTGCTCTCCTTTACTGAGCACCTCCCATGTGGCTAAGCAGCCTCCTGTCACTCAACACCCTGCGACCCCATACATTTACTGTCCCCAATTTACAGATAGGGAAACTGGGCCCAGAGGGACCCCGAGGTCCTAGAAAGGACAGAAGCGGTGCCATGCCTTAGCTGGGGTCAGCTCTGACAGTCTCTAGAGTCTGTGCTCTTGACCACTGTGCCATCCTCCCCCATCACTGGGTGTCCGGGGTGTGGATGGTGGTGACGTTGGAGGCAGAGTCCCTCAGCACTCCACGCCGTAGCGGTCGAAGTTGCGGAGCAGCAGGCCGATCTCCAGGTGCACGGTGCCACCAGCAGCTGTGTGCAGGCGATAGCGGTCGGCCCCACTGTAGATGGTGTCCCCATGCAGCAGCTGCGGCCCACCACCCACGAAAGCCCGTGCCAACTGTTCTCGCCAACTGCCCAGGGGCCGCCACGTGGGGCAGGCCAGCTGGTGGGTGCCCGGGCTACTGGGCACATGGCAAAATCCATAGCCTGCAAGCTGGCAGCGGCCAAAGCTGTCCTGGGACCACACCTGGAAATGGAGCCGGGGCCAGCCTGCAGGAAAGGAGAGAGAGGGGAAAGGAGGGATGGGTGGGGACCAGACTCCTGCTGATTCCCCACTCCCTGATACTCACTGGAGACCCCAGGCCCAGTCTTTTCCTCTCTGGGTTTCTGTCCCAGAGTTTCCAACCCAGCCTCCTTTCTAGGCTCCCACCGTCTTATCTATCCCCACACAGCAGCCAAAGTGATCTTTCCAAATCCATGTTACTCCCCTGCTAAGGATCCTTCCATAGCTCCCCAGTGCCCTCAGTATAAAGTCCAACCTCTTCAACATTCAAGGCCCTTCTAATCAGACCTCTGCTGAATTTCCTCTCTGTGTTATCCTCCTCCATGACCCCATGTCAGGGCAGCCCATTGCTCCTCCAGTCCCCAGGTAACCATCATGGGCCTTGTCAGGGACACCTCCTGCCTTCCCTCATGTCCCTGCCCTGCTCTCTTTGGGCCCAGGGCCTTCTTTCTTGCCCCTCTCTAATCCACCTTCCACCTGGCATCTGGAAGCATCTTTCTCTCCTTCCATAGCTTTGCCCATGTCCTCAGAACACAGTTCAGCTCCTCAGTCTGGTAGTCAAAGCCCTTGGAGATCCAGCCCCATCTCATCTCATGCTGATCCCTTCTCCTGTGCTAGACTCTGTTCTAGCTAGCTGGGGACACGGCAGACATGAACATGGATGGCAGACAAAAATTCCTGCCCCCGTGAAGCTGATATCCTAGACAACGAATGTAGTAAATAAGCAAATTATAGGGTAGATCAGATGGTGGTAATTGCTGTGAGGGAAAACAGAGCTGGGTAGGGTGAGGGTGGGGATACCGCTTTAGCAAGAAGGGGATCAAGGAAGCTTCATTAAGAAGGTGACATTTGAGCAAATGCTAAAAGGAAGGAAGGGAGTAGGCCATGTGGCCATCTAGAGGAAGAGTGCTCCTAGCCAGAGGGAACAGCAAGTGCCAAGGCCCTGGGGGGGGACTGTCTGGTGGGGACAGTATGGCTGGAGCCCAGACGGAGTGTGCCTGGTGGGGACAGCATGGCTAGAGCAGAATGAGGTGGGGAGACGGGAAGGAGGTGCCAGCCTGGTTGTGGAGAGCCTTGTGATGCATGCTAAGACTATGGCTTTCACCCTGAGTGAGATGGGGACCATTGGAGGGTTCTGAGCAGAGCAGAGATGGGACCTGACTTAGGTGTTCACAGGGTCCCAGCTGCATGTGGGGTGCAGACCAGGGGGGTTGGGGAAGGGGACTCCAGAGACAAGATTCTTGTCATAGTCCATGTGAGAGAAGAACTTGGACAGATCAAGGTGCTGGGCGAGAAAAGGGTAAGAAGTGGGATTTAGGATGTATTTCAAAAGTAGAGGCAGTTTAAGATTTCCTGATGGACAAAATGGGGGCTTGAGAAAAGAGAAAGCAAGGCTGGTGCCACCACTGGGGGACTGGAGGCCCCAAGAGCTGAAAGGTTAGAGCTGCCCACCTCACCCACACAGCACCGGAAAGATTTTTTTTTTCCCCAGCTCCAGCTTAAAAGACAGAAAGATTATTTAAAAGTGAAATCTCAGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCACCTTGGTGAAACGCCATCTCTATTAAAAAAAAAAAAGGCAAAAATTAGCCAGATGTGGTGGCACGTGGCTGTAGTCCCAGCTACTCGTGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGCCACTACACTCCAGCCTGGGCAACAGAGTGAAACTCTGTCTCCAAAAAAAAAAAGGTGAAATCTCACTTGTCCATTACCTGCTCTGGCTCCCAAGTGCCTTCAGGAGATGGCCTCAGCTCCTCAGCCTGGCACTCAAGGCCCTGCATGGCCTGTCCCCTTCTGCCT
TGGACAGGATCTGGCCGCGGATGGCCTCGATGCGCTTCCGCTTCACCAGCTCCATGTCGATAGTCTTGCAGGTGGATAGTCCCGCGGCCGGCCGGCCAGGCGTCAGCACCAGTAGCCACAGCAGCGGTAGCAGCAGCGGCAGCAGCCGCAGCCCGGAGGGCGGCATGGGGGAGGCGGCGCCCCCCGGCACTGCCGAGAGCGCGAACAGGGCTGGTGTGGTGGGGAGGCCCCGCCCCTGCAGGGGCTGGGGGTCTCCCGGCAAAAGGTAGGAGGGCCTCGAGGGAAAGCTGAGGTCCTCAGGGAGAAGGGCGCAGTGGTGGAGGGGAGGCTTGGACCGGGGGTGTCTCAGTATCCCACGGAAATAACCTAGATGGGCGCGATCTGGTACCAGAAGGTGGGTGGTCTTGAATAGGGGATCTGTGGCAGGTCGGAGAGAGATCCGTCTCCTGGAGGAGAAAGGGTCTAGGATGCGCGGGGGCTCAGGAGACAGGCCGGGGATGAAGGCGGCGTGCAGGGGGTGCGCCCGAGGTCTGGGGAAAAGTCTTTGCGGGAGGCCGGGTCGGCGACTCCCGAGGGCTGGTCCGGAATGGGGGCGCCTGAGGGACGCCGTGTAGGGGGCAGGGAGGGAGCAAGCGTCCCCGGCGGCAAAGGGAGGCGGTCTGGGGTCCCCAAGTCCTGCCTCCTCGCGGGGCAGCGTCGCGCCAAGAGGTCCCCGCGCCTCCGGCTCCCAGCGGCAACGGAAAAGTCTCAAAAGTTTTTTTCCTCTTCTCCCGACCAGCTCGTCCCTCCTCCCGCTCCTCCTCCCCCTCCTCCCCGCAGTGGCGGGGGCGGCGGCGGCTCGTCTCAGACTCTGGGGCCTCAGGCTGCTCCTCGGCGACTCCTTCCTCCGCTCCGGGCCGAGGCCGGCCCCGCGGGCGGCTCAGAGCCGGGGGGGTGCCCCGGACGGGGCGTCCCCCCTGCCCCCGGCCGGGGCCCTCGCTGTCTGGCTGCTCCGCGGAGGGAGGTGGGAGGGAGATGGCCCAGGGCGCGAAGGGCGGCGGCGGCGGGGACCGGCTGGGTCGGCAGGGGGTTTTGAAGCCGCCCCCGGCCCCACCCAGGAAGCGCACGGGGCGGGAGCGGGGGCGGCCCCCAGGGGGAGGGCATGGGGGGGCTGGGCCACCGTCCTCATCTCGCGTGGGCGGGCTCCGAGGGGGGTCCCTTCAGCCCTGGGGGAAAGGGGGCGGGCACCCCGGCTCCGCCCCGCAAACAGGGTGCTGCCTCCTGGCGGCCAAGCGCCACCAAAGCGGGTGATCCAGATGCGCTGTGGCTTTGCGGGCGGTGTGGGTCACCAGAGAAAGAGGACCAGGCGGAGAAGGCTTAATCCGGGGGATGAGACACAGGGGAGCCGACCAGAGGAGGGGGACCCAGAACGGAAGGAGAGTCAGGCTGGGAAACAAGGTAGGAGAAGAGGGTCTGTCAACATGGGGGCCTCCGGAGGGTGTCAGTGGGAGGAGGGGGCAACAGGACACCTGAAGGATGGAAGGGTCAGGAGGCAGACACCTGTAAGAATTGCTCTCCTTTACTGAGCACCTCCCATGTGGCTAAGCAGCCTCCTGTCACTCAACACCCTGCGACCCCATACATTTACTGTCCCCAATTTACAGATAGGGAAACTGGGCCCAGAGGGACCCCGAGGTCCTAGAAAGGACAGAAGCGGTGCCATGCCTTAGCTGGGGTCAGCTCTGACAGTCTCTAGAGTCTGTGCTCTTGACCACTGTGCCATCCTCCCCCATCACTGGGTGTCCGGGGTGTGGATGGTGGTGACGTTGGAGGCAGAGTCCCTCAGCACTCCACGCCGTAGCGGTCGAAGTTGCGGAGCAGCAGGCCGATCTCCAGGTGCACGGTGCCACCAGCAGCTGTGTGCAGGCGATAGCGGTCGGCCCCACTGTAGATGGTGTCCCCATGCAGCAGCTGCGGCCCACCACCCACGAAAGCCCGTGCCAACTGTTCTCGCCAACTGCCCAGGGGCCGCCACGTGGGGCAGGCCAGCTGGTGGGTGCCCGGGCTACGGGGCACATGGCAAAATCCATAGCCTGCAAGCTGGCAGCGGCCAAAGCTGTCCTGGGACCACACCTGGAAATGGAGCCGGGGCCAGCCTGCAGGAAAGGAGAGAGAGGGGAAAGGAGGGATGGGTGGGGACCAGACTCCTGCTGATTCCCCACTCCCTGATACTCACTGGAGACCCCAGGCCCAGTCTTTTCCTCTCTGGGTTTCTGTCCCAGAGTTTCCAACCCAGCCTCCTTTCTAGGCTCCCACCGTCTTATCTATCCCCACACAGCAGCCAAAGTGATCTTTCCAAATCCATGTTACTCCCCTGCTAAGGATCCTTCCATAGCTCCCCAGTGCCCTCAGTATAAAGTCCAACCTCTTCAACATTCAAGGCCCTTCTAATCAGACCTCTGCTGAATTTCCTCTCTGTGTTATCCTCCTCCATGACCCCATGTCAGGGCAGCCCATTGCTCCTCCAGTCCCCAGGTAACCATCATGGGCCTTGTCAGGGACACCTCCTGCCTTCCCTCATGTCCCTGCCCTGCTCTCTTTGGGCCCAGGGCCTTCTTTCTTGCCCCTCTCTAATCCACCTTCCACCTGGCATCTGGAAGCATCTTTCTCTCCTTCCATAGCTTTGCCCATGTCCTCAGAACACAGTTCAGCTCCTCAGTCTGGTAGTCAAAGCCCTTGGAGATCCAGCCCCATCTCATCTCATGCTGATCCCTTCTCCTGTGCTAGACTCTGTTCTAGCTAGCTGGGGACACGGCAGACATGAACATGGATGGCAGACAAAAATTCCTGCCCCCGTGAAGCTGATATCCTAGACAACGAATGTAGTAAATAAGCAAATTATAGGGTAGATCAGATGGTGGTAATTGCTGTGAGGGAAAACAGAGCTGGGTAGGGTGAGGGTGGGGATACCGCTTTAGCAAGAAGGGGATCAAGGAAGCTTCATTAAGAAGGTGACATTTGAGCAAATGCTAAAAGGAAGGAAGGGAGTAGGCCATGTGGCCATCTAGAGGAAGAGTGCTCCTAGCCAGAGGGAACAGCAAGTGCCAAGGCCCTGGGGGGGGACTGTCTGGTGGGGACAGTATGGCTGGAGCCCAGACGGAGTGTGCCTGGTGGGGACAGCATGGCTAGAGCAGAATGAGGTGGGGAGACGGGAAGGAGGTGCCAGCCTGGTTGTGGAGAGCCTTGTGATGCATGCTAAGACTATGGCTTTCACCCTGAGTGAGATGGGGACCATTGGAGGGTTCTGAGCAGAGCAGAGATGGGACCTGACTTAGGTGTTCACAGGGTCCCAGCTGCATGTGGGGTGCAGACCAGGGGGGTTGGGGAAGGGGACTCCAGAGACAAGATTCTTGTCATAGTCCATGTGAGAGAAGAACTTGGACAGATCAAGGTGCTGGGCGAGAAAAGGGTAAGAAGTGGGATTTAGGATGTATTTCAAAAGTAGAGGCAGTTTAAGATTTCCTGATGGACAAAATGGGGGCTTGAGAAAAGAGAAAGCAAGGCTGGTGCCACCACTGGGGGACTGGAGGCCCCAAGAGCTGAAAGGTTAGAGCTGCCCACCTCACCCACACAGCACCGGAAAGATTTTTTTTTTCCCCAGCTCCAGCTTAAAAGACAGAAAGATTATTTAAAAGTGAAATCTCAGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCACCTTGGTGAAACGCCATCTCTATTAAAAAAAAAAAAGGCAAAAATTAGCCAGATGTGGTGGCACGTGGCTGTAGTCCCAGCTACTCGTGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGCCACTACACTCCAGCCTGGGCAACAGAGTGAAACTCTGTCTCCAAAAAAAAAAAGGTGAAATCTCACTTGTCCATTACCTGCTCTGGCTCCCAAGTGCCTTCAGGAGATGGCCTCAGCTCCTCAGCCTGGCACTCAAGGCCCTGCATGGCCTGTCCCCTTCTGCCT
Task1_train_27165
This sequence variant lies in B9D2 (B9 domain containing 2) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Familial aplasia of the vermis
CAAGTGCCAAGGCCCTGGGGGGGGACTGTCTGGTGGGGACAGTATGGCTGGAGCCCAGACGGAGTGTGCCTGGTGGGGACAGCATGGCTAGAGCAGAATGAGGTGGGGAGACGGGAAGGAGGTGCCAGCCTGGTTGTGGAGAGCCTTGTGATGCATGCTAAGACTATGGCTTTCACCCTGAGTGAGATGGGGACCATTGGAGGGTTCTGAGCAGAGCAGAGATGGGACCTGACTTAGGTGTTCACAGGGTCCCAGCTGCATGTGGGGTGCAGACCAGGGGGGTTGGGGAAGGGGACTCCAGAGACAAGATTCTTGTCATAGTCCATGTGAGAGAAGAACTTGGACAGATCAAGGTGCTGGGCGAGAAAAGGGTAAGAAGTGGGATTTAGGATGTATTTCAAAAGTAGAGGCAGTTTAAGATTTCCTGATGGACAAAATGGGGGCTTGAGAAAAGAGAAAGCAAGGCTGGTGCCACCACTGGGGGACTGGAGGCCCCAAGAGCTGAAAGGTTAGAGCTGCCCACCTCACCCACACAGCACCGGAAAGATTTTTTTTTTCCCCAGCTCCAGCTTAAAAGACAGAAAGATTATTTAAAAGTGAAATCTCAGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCACCTTGGTGAAACGCCATCTCTATTAAAAAAAAAAAAGGCAAAAATTAGCCAGATGTGGTGGCACGTGGCTGTAGTCCCAGCTACTCGTGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGCCACTACACTCCAGCCTGGGCAACAGAGTGAAACTCTGTCTCCAAAAAAAAAAAGGTGAAATCTCACTTGTCCATTACCTGCTCTGGCTCCCAAGTGCCTTCAGGAGATGGCCTCAGCTCCTCAGCCTGGCACTCAAGGCCCTGCATGGCCTGTCCCCTTCTGCCTTTCCCCTCTGCCGTCCCGCTCTCCCTCAATCCACTAGATGCCCTTGGCTCACTTTCCCCTTTGAGTCTTCCACGTAGCTCCCTCTGCCTAGAACCTTCTTCTATCCCTCTGCCTTATTAGCTCCGCTGGCCCTTCACAGCAAAGTTCAGAAGCCCCCTCCTCCAGGAAGCCCTCTCTGACCTCCCTGACAGAGTCAGCCACTTCCTCTGGGCTCCCACAGCCTCTCCAAATCACCTATCTTAGTCCTGCCCACTCTGAGGTGCCACTGTCTGGAGAGAGGTGTGTCCCCCCATAGGACGGTGAACCCTGTGAGGACAAGGCTAAGGGACACTGCCTTGATCCTCAATGTCTCCCTGGCATCACCCAACACAGGCTGGACACAGGGCAGGTACCAGGTAGACGTTCTTTATATTGGTGAAATATATGGCACATTTACCTAGGCAATTTCTCAGAATCAACTCATCTCCAGGAACCCACATTTTCTACTAGAAAGGCTTTCTGATGCCGCTCCTCCCCCAGTACTGATTTCCCCTTTGAGCAGCAGCTCTACTTTCAAGCCGAGGAGCCCTTCCTGGAGAAACAGCCCTTGCCTCTCTCAGACCCTGCCTCCCGGCTTCCTCTTTATTGGAGACTCTCGTTTTGTCTCTTTACTTGAATGCCACCTCCCCTCCCACCCTGACCCCCCACCTTCCCACCTCCTGCTCCACCCTGGCCTCTGCCCTAATCATACAAACTTGGGATCGCCTATTGAGCAGGCCTGGGAAGGCCTTAGCTCAGCCTCTCCAGGGCCAGACTTGGCTGCAAAAGGGACCTACGTGGTATGGGGAGCAGGGACAGGTCTTGGTGTTCCCAGCCCCAGGGACCTCAGAGGCTACTGGCCCCCTCCCCTCAGCCTGGACCCGGGTCCAGGTGTGATACCCACCTTGAAGACCTTTGGTGGCGAAGTGCAGGTCGATGGGGTGGGACCAGTAAGCCATGTCCCCTATCTGCGGGGTGTCCACTTGCGTTTGGCCCTCCCGCACGCCTGACAGGAGCTTCCATGCCGCCCCTGCAGTGAGAGCCGGGACATAGAGGGGTGGGAGGCAGCCATCGGGAAGGGGATGCCGCTGTGGCTATAGGACTGTTTCTCTGTGGCATCTACTGGTAGGGGTTACGAAGCATGGACTCTGGAACCAAGTATCTGGGTTCAAATCCTGGCACTACCTCTTCCTGCCTCTGCAACCTTGGGCAAGTTAGCTTTCTCTGCCTTGGTCTCCCCATCTATAAAATGAGCTGAGTAATAATGCATTCCTCATTGTCTTCATTTGTTTTCTGTTACTCTTAACATAATATCCAAAACTGGATAATTTATAAAGAAAAGGAATTTCTATCTCACAGTTATAGGAGACTGACCAAGGTGGAGGAGCCCCATCTAGTAAGAGCCTTCTTGCTGGAACTCTTCAGAGAGTCCCAAGGCTAGTGTGCTAACATGCCACTCACGTCTCTCTCTCTCATTTTATAAAGCCACCACTTCCTCTCCCATGATAACCCACTAATCCATTAACCCATTAATCCATGAATGGGTAATGAGCATAGTGAGCACGGGATAAGTCTTCAATATCATTTTATTACGATTCTCACCCCATATTTTCAAGCCTAGTCCAAGGATTAAGATGGGGCCAAGGGTACCCTCCAGGAGCGCATCCTGAAACACACATAACAATTTCGATCCTACTGAGGGGTGATAATGATAGCTAAAATGCACTGAGTGGTAGGATACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGTAGATCCCTTGAGTCCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCATCTCTACAAATAATATAAAAATTAAGGCTGAGCGCAGTGGCTCACACCTCTAATCCCAGCACTTTAGGAGGCTTAGGGGGGGGTGGATCATCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACAAAAATTAGTCTGGAGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCACGAGAATCGCTGGAAAAGCTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCTGGTGTGACACAGTGAGACTCCATCTCAAAAAATGAACAAACAAGCCAGGCGCAGTGACTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGCGAAATCCCATCTCTACTAAAAATACAAAAATTAGGATGGGCGCAGTGGCTCACATCTGTAATCCTAGCACTTTGGGAAGCCAAGGCAGGTGGATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAAAATGGTAAAACTCTGTCTCTACTAAAAACACACACACACACACCCACAAAATTAGCCACGTCTGTAATCCCAGCACTTTGGGAGACTAAGGCAGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATTCTGAAACCCTATCTCTACTAAAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCACGCCCATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATGGTCCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAATTCCATCTAAAAAAAAAAAGAAAAGAAAAAAAGAAAATGCACCGAGTACTAACTAAATCCCAGATGCTATGCTAAGTACTTTAAGCATCCATTCATTTAATCCACCCTCTAGGACTCTTAATCCCCTCCTCACCCCCCAGTTTACAGACCCTCCACCATGGCCCACGTGGCCTGGCTCTTGCTCCCCTCCCTGAGTTCATCTCCCATCACTCTCCCCCTCCCTCATCACCCTCTGGCCTCACTGTCCCACTTCTGACTCCCCACCTCAGGGCCTTTGCACTGGCTGTTCCCTCTGCCTAGAAAGCTCTGCTCCTGGGTGTCCCCATCCCTAGCTTTTGTTTTCATCCTTCAGGGCCC
CAAGTGCCAAGGCCCTGGGGGGGGACTGTCTGGTGGGGACAGTATGGCTGGAGCCCAGACGGAGTGTGCCTGGTGGGGACAGCATGGCTAGAGCAGAATGAGGTGGGGAGACGGGAAGGAGGTGCCAGCCTGGTTGTGGAGAGCCTTGTGATGCATGCTAAGACTATGGCTTTCACCCTGAGTGAGATGGGGACCATTGGAGGGTTCTGAGCAGAGCAGAGATGGGACCTGACTTAGGTGTTCACAGGGTCCCAGCTGCATGTGGGGTGCAGACCAGGGGGGTTGGGGAAGGGGACTCCAGAGACAAGATTCTTGTCATAGTCCATGTGAGAGAAGAACTTGGACAGATCAAGGTGCTGGGCGAGAAAAGGGTAAGAAGTGGGATTTAGGATGTATTTCAAAAGTAGAGGCAGTTTAAGATTTCCTGATGGACAAAATGGGGGCTTGAGAAAAGAGAAAGCAAGGCTGGTGCCACCACTGGGGGACTGGAGGCCCCAAGAGCTGAAAGGTTAGAGCTGCCCACCTCACCCACACAGCACCGGAAAGATTTTTTTTTTCCCCAGCTCCAGCTTAAAAGACAGAAAGATTATTTAAAAGTGAAATCTCAGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCACCTTGGTGAAACGCCATCTCTATTAAAAAAAAAAAAGGCAAAAATTAGCCAGATGTGGTGGCACGTGGCTGTAGTCCCAGCTACTCGTGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCTTGCCACTACACTCCAGCCTGGGCAACAGAGTGAAACTCTGTCTCCAAAAAAAAAAAGGTGAAATCTCACTTGTCCATTACCTGCTCTGGCTCCCAAGTGCCTTCAGGAGATGGCCTCAGCTCCTCAGCCTGGCACTCAAGGCCCTGCATGGCCTGTCCCCTTCTGCCTTTCCCCTCTGCCGTCCCGCTCTCCCTCAATCCACTAGATGCCCTTGGCTCACTTTCCCCTTTGAGTCTTCCACGTAGCTCCCTCTGCCTAGAACCTTCTTCTATCCCTCTGCCTTATTAGCTCCGCTGGCCCTTCACAGCAAAGTTCAGAAGCCCCCTCCTCCAGGAAGCCCTCTCTGACCTCCCTGACAGAGTCAGCCACTTCCTCTGGGCTCCCACAGCCTCTCCAAATCACCTATCTTAGTCCTGCCCACTCTGAGGTGCCACTGTCTGGAGAGAGGTGTGTCCCCCCATAGGACGGTGAACCCTGTGAGGACAAGGCTAAGGGACACTGCCTTGATCCTCAATGTCTCCCTGGCATCACCCAACACAGGCTGGACACAGGGCAGGTACCAGGTAGACGTTCTTTATATTGGTGAAATATATGGCACATTTACCTAGGCAATTTCTCAGAATCAACTCATCTCCAGGAACCCACATTTTCTACTAGAAAGGCTTTCTGATGCCGCTCCTCCCCCAGTACTGATTTCCCCTTTGAGCAGCAGCTCTACTTTCAAGCCGAGGAGCCCTTCCTGGAGAAACAGCCCTTGCCTCTCTCAGACCCTGCCTCCCGGCTTCCTCTTTATTGGAGACTCTCGTTTTGTCTCTTTACTTGAATGCCACCTCCCCTCCCACCCTGACCCCCCACCTTCCCACCTCCTGCTCCACCCTGGCCTCTGCCCTAATCATACAAACTTGGGATCGCCTATTGAGCAGGCCTGGGAAGGCCTTAGCTCAGCCTCTCCAGGGCCAGACTTGGCTGCAAAAGGGACCTACGTGGTATGGGGAGCAGGGACAGGTCTTGGTGTTCCCAGCCCCAGGGACCTCAGAGGCTACTGGCCCCCTCCCCTCAGCCTGGACCCGGGTCCAGGTGTGATACCCACCTTGAAGACCTTTGGTGGCGAAGTGCAGGTCGATGGGGTGGGACCAGTAAGCCATGTCCCCTATCTGCGGGGTGTCCACTTGCGTTTGGCCCTCCCGCACGCCTGACGGGAGCTTCCATGCCGCCCCTGCAGTGAGAGCCGGGACATAGAGGGGTGGGAGGCAGCCATCGGGAAGGGGATGCCGCTGTGGCTATAGGACTGTTTCTCTGTGGCATCTACTGGTAGGGGTTACGAAGCATGGACTCTGGAACCAAGTATCTGGGTTCAAATCCTGGCACTACCTCTTCCTGCCTCTGCAACCTTGGGCAAGTTAGCTTTCTCTGCCTTGGTCTCCCCATCTATAAAATGAGCTGAGTAATAATGCATTCCTCATTGTCTTCATTTGTTTTCTGTTACTCTTAACATAATATCCAAAACTGGATAATTTATAAAGAAAAGGAATTTCTATCTCACAGTTATAGGAGACTGACCAAGGTGGAGGAGCCCCATCTAGTAAGAGCCTTCTTGCTGGAACTCTTCAGAGAGTCCCAAGGCTAGTGTGCTAACATGCCACTCACGTCTCTCTCTCTCATTTTATAAAGCCACCACTTCCTCTCCCATGATAACCCACTAATCCATTAACCCATTAATCCATGAATGGGTAATGAGCATAGTGAGCACGGGATAAGTCTTCAATATCATTTTATTACGATTCTCACCCCATATTTTCAAGCCTAGTCCAAGGATTAAGATGGGGCCAAGGGTACCCTCCAGGAGCGCATCCTGAAACACACATAACAATTTCGATCCTACTGAGGGGTGATAATGATAGCTAAAATGCACTGAGTGGTAGGATACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGTAGATCCCTTGAGTCCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCATCTCTACAAATAATATAAAAATTAAGGCTGAGCGCAGTGGCTCACACCTCTAATCCCAGCACTTTAGGAGGCTTAGGGGGGGGTGGATCATCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACAAAAATTAGTCTGGAGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCACGAGAATCGCTGGAAAAGCTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCTGGTGTGACACAGTGAGACTCCATCTCAAAAAATGAACAAACAAGCCAGGCGCAGTGACTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGCGAAATCCCATCTCTACTAAAAATACAAAAATTAGGATGGGCGCAGTGGCTCACATCTGTAATCCTAGCACTTTGGGAAGCCAAGGCAGGTGGATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAAAATGGTAAAACTCTGTCTCTACTAAAAACACACACACACACACCCACAAAATTAGCCACGTCTGTAATCCCAGCACTTTGGGAGACTAAGGCAGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATTCTGAAACCCTATCTCTACTAAAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCACGCCCATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATGGTCCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAATTCCATCTAAAAAAAAAAAGAAAAGAAAAAAAGAAAATGCACCGAGTACTAACTAAATCCCAGATGCTATGCTAAGTACTTTAAGCATCCATTCATTTAATCCACCCTCTAGGACTCTTAATCCCCTCCTCACCCCCCAGTTTACAGACCCTCCACCATGGCCCACGTGGCCTGGCTCTTGCTCCCCTCCCTGAGTTCATCTCCCATCACTCTCCCCCTCCCTCATCACCCTCTGGCCTCACTGTCCCACTTCTGACTCCCCACCTCAGGGCCTTTGCACTGGCTGTTCCCTCTGCCTAGAAAGCTCTGCTCCTGGGTGTCCCCATCCCTAGCTTTTGTTTTCATCCTTCAGGGCCC
Task1_train_27166
This mutation occurs in EXOSC5 (exosome component 5) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
CTCCTCTGCAAAATGGGACTTTCTGCACACCTCAGGCTGTAGTGAGGATTAAATGCATCATATGTGGAAATGACTGTCTGCTGTTGCTGTCTCCCTCTGAGCTTTTTTTTCTTTTCTTTTCTTTTTTTTGAGATAGGATCTCCCTCTGTCAACCCAGACTGGAGTGCAGTGGCCCGATCTTGGTTCACTGCAGCCTCGACCTTCCAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGGAGCTGGGACCACAGGCGTGTGCCACAATGCCTGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAATGGTGCAATCTCAACTCACTGCAGCCTCTGCCTTCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTTCAGGTGCGCAGCACTGCGCCTGGCTGATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCATGTTGGTCAGGTTGGTCTCGAACTCCTGACGTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAAGCCTGGTCTTTATTGCTTGATAATGTCTAGCCCCTCTTAGTGTGCTTAGTGAGCACTTCCTATGTGCCTCTGCTAAGTGCTTGTGACAGATGTGTTTTCCCTGTCCAGGTGCCAACACCTCCATGTTTCCTTAAGGATGCATCCCTTTCCCTATTGCAGGCCATTTGGTTTGGATGGGACTGCCTCCAACTGCAGGTAGGGTTTTGCCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCACAGTGGCTCAAGTCTGTAATTCCAGCACTTTGGGTGGCCAAGGCAGGCGAATCACCTGAGGTCAGGATTTCCAGACCAGCCTGGCCAACATGGTGAAACCGCATCTCTACTAAAAATACAACAATTAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCACCTGAGGTCAGGAGTTAAGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCATTGGAACCCAGGAGGCGGAGGTTGCATCACCCCATTGCACTCCAGCCTGGGCAACAGAGCGAGATTCCGTCTCAAAACAAAAGAAAACAAAACAAAACAAAACAAAACAAGACAGGGACTATAACAACAGCCCCATCTCACAGGGTTGGTGGGTGGGTATTTAGAGTTTCCTCCCCATGGCCTACAAGGCCCCACCTGCATGCTTGCCCGTTTCCCCCAGCCCCATCTGCTCTCCTGCTCTAGCTCGCTGGCTTTGGCCACCCTGTTCACCAAGCTGGTCCCCAGCCCCTGGGGGCTCCTTCCCCACATTATCCAAGAGCTCACTCCCTTTCCTCTTTCAGGGTCCCCTCTGAGGTACCCTGCTCTGTGAAGGCACTGATGCCTGATGTACTCAATTTGCCCTCCATAAAGGGACTCTCCCAAACTCCTGTTCCCTGCTTTTTACTTTTTCATAGATTTACTACCATCTGACAAATTCCAGTTTACCTCCCTGCTCCTCTGGGATCTCACTAGCAGGGCCTGCACACGATGGGTGCTCAACAGACATTTGTTAAAGTGAATTAATTTATTGATTCATCCATTCCATAAATGTGAGCTCCTTTGAATGTTATCCTTGCTGGGGGGATCTGTGCCCCCAGGCCTGGGGGCTGTCACAGGCCAAGGCCTCCCCACAGGAGCCCTGTGGTTACAGAGCTGCAGGCTCAAGGAGCCCATGGGTCAGAGAGGCAAGGCTGGGCTGCTGGTTTGCTTCAGGCTGTAGGGGGTGAGTGGGTGGAGGCAATGGGAGCGGCCCCTTGCCCCAGCTTGCCTCAGCTCTTGGAGTAACGCCTCTGCAGCGATTCCCGGTAGAAACGGAAGACGTGTTGCGAAGCGGCCTGGGCCGCAGCCAGGCACTGCTGGAGCTGCGGGGGAGAGACTGGTCGGTGCTGGGGGCCGAGCCCTTCATGCACACACGACTTGGCTGACCCAGGAGGTTCTGCTGACCCCACCTGACTCCCTTAACCTCCCATCACTCCCCTGCCCCCAAGTGAGGCAAGTGGTAAGGGATTATTTCCCATTTCATGAACTGTTTCTTAGAGATCAGGAGAAATAAAAAGAGGGAGAAGGACTTCAGGATCAGATTCTGACAGCAACAGGACTCAGACCTATCAGGCATCCTCACACCTTGGAGGAGGCCCCAGCTGTGCAGAGCTATGGAACTGGAGAGTGCACAGAATTGGAGTGGTCTTGGGATTTTACAGCCACAGTCCCCTTCAGCCCAAATAATCTAAGAGCCATGGAATCAAGAGACTCCCAGTCTTCACTGCCATGTATTCCTAGATTCATGAGGTCCAGGTTGGACATGCTTTTGCAGACAGTCATGTCCAAGAGTTTCCAGGCTCTGCCCCTTAGCCTGAGACCTGGAATTCCCATGGCTCACCACTCTGAGCTGGGAGCTGGGGGACCATCACATGCCCTCTTCTGACTTCAAACTGAGCTCATCCTCTTTTTGCCTGTGTTATAAATTGGGCTTCCCTTAAACATTTCCGCAAAGGTTTCTGGGTCCACAAAGTTTGAAAACTCCCTTTTTACAAGAAGAAATTTAAGAGGCTCTCCTGAAGCCTCTCAGAATCCAGGGCAGAGTTGGGACAAGACCGTATGTCAGTGGGAAGGAAGGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCCCTCAGATAAAATCTCAGCCAGTCCTTTGGCCAGGCACAGTGGCTCATGACCATAATCTCACCACTTTGGGAGGCCAAGGCAGGGCACTGCTTGAGGCCAGAAACTCAAGACCAATCTGGGCAACAGAGGGAGACCCCATCTCAGAAAAAAAAAAAAAAAAAAGGTAGCTGGGTGTGGGGGTGCATGTCTGAGTTCCCAGCTACTCAGGAGGCAGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAAGCTGCAGTGAGCTGTGATCGTACTACACTCCAGCATGGGCGACAGTGAGACCCTGTCTCAACGCTCCCCTTCCCACCACACACTTGCAGCCAGTCCCACTGAGGGGACTCCGGACCCTTGGCCTCCAGGCCTCTCCCTTTCCATAGCCAGGCGCTCACCTATCAAGCATCAAGCGCAGCCATTTTTTGTCTACGCTACCCCTTCCCTACTTCCCTGGGTATAGCCCTCTGCCTTTCCTTTGTAGAACTGTACTCCATGCCCCTTATTCCAACCACGTGGTTCTGACAGGGGCTTCCAAGCTCAGTATTCCTGCCCCAAGGGGCTAGCCATAGTGCCACTCACTTATCTGGTACCTCTCGGCCTCCCAGTCCCCCTTCCATGCTCTGTCCCACAGGGGCTGGAAGCCAGCAAGCTGTATTTCCCAGACTCCCTTACCAGCTAGTTTCCATCAGTAATGAGGTGGGAGAATGGAAGAAAAGCAGCACCCTGGTCCTCATGGACAATGGCAGGTGCTGATGGCTGTGGCTGTGTGACAGCCATGGAGGTGGGGTGGGTTCTGGACCTCAGTGGCCAGGGCAGAAGCAGGACATGCTATGTGCATCCAGAACCAATTGAGATGATGTCTCCAACACGACAGAACAGGAGGTGGCTCGCAGGTTCAGTCCAGGTCTGGGAGGGGTTTCTCATCTCTGGGTGTCACTCCTGCTTCCTTTTTCCTCCTCTAGTTCCTCAACACTGTTGTTACAAAGTCCCTGCATTTAACTCCCTCCATCTGAAACCCTCCAAGTGGTTTCCGTCTTCTTGACTAGAGGGGACCATTATAGCACTGGGCAGAAAACTCAGAATAACTTGAGCTTAGGACACTGCACCTGAGC
CTCCTCTGCAAAATGGGACTTTCTGCACACCTCAGGCTGTAGTGAGGATTAAATGCATCATATGTGGAAATGACTGTCTGCTGTTGCTGTCTCCCTCTGAGCTTTTTTTTCTTTTCTTTTCTTTTTTTTGAGATAGGATCTCCCTCTGTCAACCCAGACTGGAGTGCAGTGGCCCGATCTTGGTTCACTGCAGCCTCGACCTTCCAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGGAGCTGGGACCACAGGCGTGTGCCACAATGCCTGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAATGGTGCAATCTCAACTCACTGCAGCCTCTGCCTTCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTTCAGGTGCGCAGCACTGCGCCTGGCTGATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCATGTTGGTCAGGTTGGTCTCGAACTCCTGACGTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAAGCCTGGTCTTTATTGCTTGATAATGTCTAGCCCCTCTTAGTGTGCTTAGTGAGCACTTCCTATGTGCCTCTGCTAAGTGCTTGTGACAGATGTGTTTTCCCTGTCCAGGTGCCAACACCTCCATGTTTCCTTAAGGATGCATCCCTTTCCCTATTGCAGGCCATTTGGTTTGGATGGGACTGCCTCCAACTGCAGGTAGGGTTTTGCCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCACAGTGGCTCAAGTCTGTAATTCCAGCACTTTGGGTGGCCAAGGCAGGCGAATCACCTGAGGTCAGGATTTCCAGACCAGCCTGGCCAACATGGTGAAACCGCATCTCTACTAAAAATACAACAATTAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCACCTGAGGTCAGGAGTTAAGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCATTGGAACCCAGGAGGCGGAGGTTGCATCACCCCATTGCACTCCAGCCTGGGCAACAGAGCGAGATTCCGTCTCAAAACAAAAGAAAACAAAACAAAACAAAACAAAACAAGACAGGGACTATAACAACAGCCCCATCTCACAGGGTTGGTGGGTGGGTATTTAGAGTTTCCTCCCCATGGCCTACAAGGCCCCACCTGCATGCTTGCCCGTTTCCCCCAGCCCCATCTGCTCTCCTGCTCTAGCTCGCTGGCTTTGGCCACCCTGTTCACCAAGCTGGTCCCCAGCCCCTGGGGGCTCCTTCCCCACATTATCCAAGAGCTCACTCCCTTTCCTCTTTCAGGGTCCCCTCTGAGGTACCCTGCTCTGTGAAGGCACTGATGCCTGATGTACTCAATTTGCCCTCCATAAAGGGACTCTCCCAAACTCCTGTTCCCTGCTTTTTACTTTTTCATAGATTTACTACCATCTGACAAATTCCAGTTTACCTCCCTGCTCCTCTGGGATCTCACTAGCAGGGCCTGCACACGATGGGTGCTCAACAGACATTTGTTAAAGTGAATTAATTTATTGATTCATCCATTCCATAAATGTGAGCTCCTTTGAATGTTATCCTTGCTGGGGGGATCTGTGCCCCCAGGCCTGGGGGCTGTCACAGGCCAAGGCCTCCCCACAGGAGCCCTGTGGTTACAGAGCTGCAGGCTCAAGGAGCCCATGGGTCAGAGAGGCAAGGCTGGGCTGCTGGTTTGCTTCAGGCTGTAGGGGGTGAGTGGGTGGAGGCAATGGGAGCGGCCCCTTGCCCCAGCTTGCCTCAGCTCTTGGAGTAACGCCTCTGCAGCGATTCCCGGTAGAAACGGAAGACGTGTTGCGAAGCGGCCTGGGCCGCAGCCAGGCACTGCTGGTGCTGCGGGGGAGAGACTGGTCGGTGCTGGGGGCCGAGCCCTTCATGCACACACGACTTGGCTGACCCAGGAGGTTCTGCTGACCCCACCTGACTCCCTTAACCTCCCATCACTCCCCTGCCCCCAAGTGAGGCAAGTGGTAAGGGATTATTTCCCATTTCATGAACTGTTTCTTAGAGATCAGGAGAAATAAAAAGAGGGAGAAGGACTTCAGGATCAGATTCTGACAGCAACAGGACTCAGACCTATCAGGCATCCTCACACCTTGGAGGAGGCCCCAGCTGTGCAGAGCTATGGAACTGGAGAGTGCACAGAATTGGAGTGGTCTTGGGATTTTACAGCCACAGTCCCCTTCAGCCCAAATAATCTAAGAGCCATGGAATCAAGAGACTCCCAGTCTTCACTGCCATGTATTCCTAGATTCATGAGGTCCAGGTTGGACATGCTTTTGCAGACAGTCATGTCCAAGAGTTTCCAGGCTCTGCCCCTTAGCCTGAGACCTGGAATTCCCATGGCTCACCACTCTGAGCTGGGAGCTGGGGGACCATCACATGCCCTCTTCTGACTTCAAACTGAGCTCATCCTCTTTTTGCCTGTGTTATAAATTGGGCTTCCCTTAAACATTTCCGCAAAGGTTTCTGGGTCCACAAAGTTTGAAAACTCCCTTTTTACAAGAAGAAATTTAAGAGGCTCTCCTGAAGCCTCTCAGAATCCAGGGCAGAGTTGGGACAAGACCGTATGTCAGTGGGAAGGAAGGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCCCTCAGATAAAATCTCAGCCAGTCCTTTGGCCAGGCACAGTGGCTCATGACCATAATCTCACCACTTTGGGAGGCCAAGGCAGGGCACTGCTTGAGGCCAGAAACTCAAGACCAATCTGGGCAACAGAGGGAGACCCCATCTCAGAAAAAAAAAAAAAAAAAAGGTAGCTGGGTGTGGGGGTGCATGTCTGAGTTCCCAGCTACTCAGGAGGCAGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAAGCTGCAGTGAGCTGTGATCGTACTACACTCCAGCATGGGCGACAGTGAGACCCTGTCTCAACGCTCCCCTTCCCACCACACACTTGCAGCCAGTCCCACTGAGGGGACTCCGGACCCTTGGCCTCCAGGCCTCTCCCTTTCCATAGCCAGGCGCTCACCTATCAAGCATCAAGCGCAGCCATTTTTTGTCTACGCTACCCCTTCCCTACTTCCCTGGGTATAGCCCTCTGCCTTTCCTTTGTAGAACTGTACTCCATGCCCCTTATTCCAACCACGTGGTTCTGACAGGGGCTTCCAAGCTCAGTATTCCTGCCCCAAGGGGCTAGCCATAGTGCCACTCACTTATCTGGTACCTCTCGGCCTCCCAGTCCCCCTTCCATGCTCTGTCCCACAGGGGCTGGAAGCCAGCAAGCTGTATTTCCCAGACTCCCTTACCAGCTAGTTTCCATCAGTAATGAGGTGGGAGAATGGAAGAAAAGCAGCACCCTGGTCCTCATGGACAATGGCAGGTGCTGATGGCTGTGGCTGTGTGACAGCCATGGAGGTGGGGTGGGTTCTGGACCTCAGTGGCCAGGGCAGAAGCAGGACATGCTATGTGCATCCAGAACCAATTGAGATGATGTCTCCAACACGACAGAACAGGAGGTGGCTCGCAGGTTCAGTCCAGGTCTGGGAGGGGTTTCTCATCTCTGGGTGTCACTCCTGCTTCCTTTTTCCTCCTCTAGTTCCTCAACACTGTTGTTACAAAGTCCCTGCATTTAACTCCCTCCATCTGAAACCCTCCAAGTGGTTTCCGTCTTCTTGACTAGAGGGGACCATTATAGCACTGGGCAGAAAACTCAGAATAACTTGAGCTTAGGACACTGCACCTGAGC
Task1_train_27167
Located on Chromosome 19, this mutation impacts BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Maple syrup urine disease
TCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGTTCTATACACCTTGCCGAGAATGTGCTTTCCCTGCCTCCTGGTTATCCCTCAGGTTTCAGCTCTAACATCACTTCCCCAGGGAAGCCTTACCCTCGCTTTCTTCTGCTATAGGATAATATGAACCACCATCATTGTTACTTGTTTAGTGTCTGCCCTCCCTGCTAGGCAGCAAGGACAGATATCTTGCCTGTCTTAGGTCCCCAGAACCCAGCACAGGGCTTGGAACATGTCAGGTGCTCAAATATTTGTTGAATGAGTCAGTCTGGGCTCGCAGAGGGAGCTGGGACCAGAGTAGAGTGGACACTGAAGCGTATGTAGCAGTTTGCCAGGCGATAGGGAAAGAGACCTTCTTGTAAAGCAAGCAGAGATGAGAGGGAGAAATGAGAATTGCTAAGATTGTTTTGAGCATTTGTTAGGTGGCTTACAGATGCTTTGCTGAACATTTTATTCATGTGATCTTGTTTAAGCCTCTCATTTCCATGAGGGGTTCTCCATTTTTATAGACAAGGAAGGGGACACGTGGAGAGGGGAAGTTACTTTGCCATATCACCCTCTAAGGGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCACCAGGCTAGAGTGCTATGGCGCAATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACATCCGGCTAATTTTTCTATTTTTAGTGGGTACAGGGTTTCGCCATGTTGGCCACATTGATCTCGAACTCCTGACCTCAAGTGAGATTCGCCTGCCTCTGCCTCCTAAAGGCAGTAAGGGAATTGAACCTAGGCAGTCTGACTCTTAAGAGCTCAAAGACTTAAGCTCTGTCCTGAGTAGCTTCGCTGGTGTATGGTATAGGGATCAGAAGAGAGCTGGTCTGTATGCCTAGAGGGCATCCTGCAGTGGGCATGTGTGTCTGTGGTCACAGTGGGAGAGAGAGAGGAGGGGGCATCTGTGGCCAGAATGGGGAGGCCTCGAATGCCAGGATGAAGAGTTTGGGCCTATGGTAATGAGAATAGTAATAGCTACCAGTTATTGACTTGCCAGCCACTTGATTGAGTCATTTAACCTCACAACAGTCCTATGGGATAGGTGTTAACTGTTTTCATCCCAGTTTTTCAGATGGGGAAACTGAGACACAGAAGTTGTAGTCAGTTATCCAAAGTGTCGCAGTGAGAAAGTGCTGGAGTTGGGGCTCAGACCCTGTGAGTCAGGCCCCAGAGTTCACTGGGGCCACATGCTCAACCACCATGCCGCCTGCCTGCCGCCGGGGCTGAGCCAGCGGAAACCTGGGTGCTGCTTCTGATGCAGGTGGTCTCCTCTGCTCTCTTCCCCAGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGCCCAGGCCCCTTGCCTGTCTCCTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAATTACCTGAGGTCCCCTACCTGTGTTTGGGCCAAAGGAATGGCTCCCAAGGAGGACAGATTCTTTTTTGGGGGGGTTCCATAGAGTTCTGAGGGTTCTCTTGGGACTCTGGAGGAGAAGTGTGAGAGCAGTCCTGCCTTAGGGCAGAAGGATGGACCTGATCACTAAAAAACACCTACTGTGTGCCTGGCTGGGGGCTCGCCTGTGTGGGGAGAGGGCAGGGAGAAGGCCTGACAGCCCTTCCTCTTGGAAATGCACAGTCCTGAGAAACAGGGTGGGTCCCCAGTGCTTCCTGGAGTGCTCCAGGGGACCGCCCTAGGCCCATGTGAAATGGGCTGTGATCCCCTGATAAATCCTAGTATCAGGGACAAGGATCCAGTCAAGCCAGTGTCAACAAAGAGGGAAGTTATTGACTCCAATGACCATACATCCAGAGGGTCCTGTTTTGGGGCACAGCTAGATCCAGGGGGTCTTCCAGGCAGGAAGTAGAGGGAAGGCGGAAGGCCAGACATGGCACATCCCAGCTATCCCACACCCCCACCTTTATAGAGCTTTCTGGGTAGTCCCACCTAGTGACATCTGCATACATTTCCTGGGCCACTCCTAGCTGCAGGGGAGACTGAGAAATGTATTAATAATACTTTAGTCCCGGCAGTTGCTGCCTGCGGGAGATTGAGACCTCTGTTAACAGAGGAGGGGAATAGTATACTGGGAAGGCAACCAGGAGCCTCTGCCAGTAGCCCCGAGTCCTGATCCTCAGGGGGCTGGTTGCAGGCTCTTACCCACGCTAACCTGGACAGTCCTGCCAGGCCCTCAGTACTCAGCACCGCCCACTCACTTGGCACTGGAATGTGCATTAACTTTTAATTGGCTCCCCACTTAGAAGAAAGCACACATTCATCAGTTTCCCCCACAGCAACGGGAAAGCCAGGCCTGGGAACACATGGAGGAGGGCACCGCCGAGCCGCGAGGAGCTCTGGCCCCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCCCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACCGGGATTACAGGTGTGAGCCACCGTGCCTAGCCTGTCTGTAGA
TCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGTTCTATACACCTTGCCGAGAATGTGCTTTCCCTGCCTCCTGGTTATCCCTCAGGTTTCAGCTCTAACATCACTTCCCCAGGGAAGCCTTACCCTCGCTTTCTTCTGCTATAGGATAATATGAACCACCATCATTGTTACTTGTTTAGTGTCTGCCCTCCCTGCTAGGCAGCAAGGACAGATATCTTGCCTGTCTTAGGTCCCCAGAACCCAGCACAGGGCTTGGAACATGTCAGGTGCTCAAATATTTGTTGAATGAGTCAGTCTGGGCTCGCAGAGGGAGCTGGGACCAGAGTAGAGTGGACACTGAAGCGTATGTAGCAGTTTGCCAGGCGATAGGGAAAGAGACCTTCTTGTAAAGCAAGCAGAGATGAGAGGGAGAAATGAGAATTGCTAAGATTGTTTTGAGCATTTGTTAGGTGGCTTACAGATGCTTTGCTGAACATTTTATTCATGTGATCTTGTTTAAGCCTCTCATTTCCATGAGGGGTTCTCCATTTTTATAGACAAGGAAGGGGACACGTGGAGAGGGGAAGTTACTTTGCCATATCACCCTCTAAGGGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCACCAGGCTAGAGTGCTATGGCGCAATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACATCCGGCTAATTTTTCTATTTTTAGTGGGTACAGGGTTTCGCCATGTTGGCCACATTGATCTCGAACTCCTGACCTCAAGTGAGATTCGCCTGCCTCTGCCTCCTAAAGGCAGTAAGGGAATTGAACCTAGGCAGTCTGACTCTTAAGAGCTCAAAGACTTAAGCTCTGTCCTGAGTAGCTTCGCTGGTGTATGGTATAGGGATCAGAAGAGAGCTGGTCTGTATGCCTAGAGGGCATCCTGCAGTGGGCATGTGTGTCTGTGGTCACAGTGGGAGAGAGAGAGGAGGGGGCATCTGTGGCCAGAATGGGGAGGCCTCGAATGCCAGGATGAAGAGTTTGGGCCTATGGTAATGAGAATAGTAATAGCTACCAGTTATTGACTTGCCAGCCACTTGATTGAGTCATTTAACCTCACAACAGTCCTATGGGATAGGTGTTAACTGTTTTCATCCCAGTTTTTCAGATGGGGAAACTGAGACACAGAAGTTGTAGTCAGTTATCCAAAGTGTCGCAGTGAGAAAGTGCTGGAGTTGGGGCTCAGACCCTGTGAGTCAGGCCCCAGAGTTCACTGGGGCCACATGCTCAACCACCATGCCGCCTGCCTGCCGCCGGGGCTGAGCCAGCGGAAACCTGGGTGCTGCTTCTGATGCAGGTGGTCTCCTCTGCTCTCTTCCCCAGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGCCCAGGCCCCTTGCCTGTCTCCTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACCGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAATTACCTGAGGTCCCCTACCTGTGTTTGGGCCAAAGGAATGGCTCCCAAGGAGGACAGATTCTTTTTTGGGGGGGTTCCATAGAGTTCTGAGGGTTCTCTTGGGACTCTGGAGGAGAAGTGTGAGAGCAGTCCTGCCTTAGGGCAGAAGGATGGACCTGATCACTAAAAAACACCTACTGTGTGCCTGGCTGGGGGCTCGCCTGTGTGGGGAGAGGGCAGGGAGAAGGCCTGACAGCCCTTCCTCTTGGAAATGCACAGTCCTGAGAAACAGGGTGGGTCCCCAGTGCTTCCTGGAGTGCTCCAGGGGACCGCCCTAGGCCCATGTGAAATGGGCTGTGATCCCCTGATAAATCCTAGTATCAGGGACAAGGATCCAGTCAAGCCAGTGTCAACAAAGAGGGAAGTTATTGACTCCAATGACCATACATCCAGAGGGTCCTGTTTTGGGGCACAGCTAGATCCAGGGGGTCTTCCAGGCAGGAAGTAGAGGGAAGGCGGAAGGCCAGACATGGCACATCCCAGCTATCCCACACCCCCACCTTTATAGAGCTTTCTGGGTAGTCCCACCTAGTGACATCTGCATACATTTCCTGGGCCACTCCTAGCTGCAGGGGAGACTGAGAAATGTATTAATAATACTTTAGTCCCGGCAGTTGCTGCCTGCGGGAGATTGAGACCTCTGTTAACAGAGGAGGGGAATAGTATACTGGGAAGGCAACCAGGAGCCTCTGCCAGTAGCCCCGAGTCCTGATCCTCAGGGGGCTGGTTGCAGGCTCTTACCCACGCTAACCTGGACAGTCCTGCCAGGCCCTCAGTACTCAGCACCGCCCACTCACTTGGCACTGGAATGTGCATTAACTTTTAATTGGCTCCCCACTTAGAAGAAAGCACACATTCATCAGTTTCCCCCACAGCAACGGGAAAGCCAGGCCTGGGAACACATGGAGGAGGGCACCGCCGAGCCGCGAGGAGCTCTGGCCCCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCCCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACCGGGATTACAGGTGTGAGCCACCGTGCCTAGCCTGTCTGTAGA
Task1_train_27168
This is a variant in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; Maple syrup urine disease
ATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCCCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACCGGGATTACAGGTGTGAGCCACCGTGCCTAGCCTGTCTGTAGATACATCTTTAGGAAGTGCTCAGCTGCTCAGCAGCACACTCTGAGACCCAGCCCCATCCTTTCTCTGCTTCACTGTTGTTGGTGAGTTGACCTTCGTGCTCTGCTTGTGGCCTCGTGTTCACAGCATGGCTGCTGCATGTCCAAGCTTCATGGCTGTCTGCAAGGCAGGAAGAAGTAGGGAGTGGGTAGGGCTGGCACCAGCAGCAGTGGTCTCTTCTATCCAGAAAGCAAAAGCAGACTTCCACCAAAATATCTGGCTAAAACTGTGTCCCATGGCCACCTCTGGCTGCAAGGGAGGCCAGGGACCTGAGTGCGTGTCTTTTTGAGGCTCAGGTTAGGGGATTTGGGAGAAGGGAACTGGGCACTGGTGTGGCCAGCTGACAGGGTCTGCTGCCCCCTAGCACAGCCGACTCAGCTTCCTCAGACACATCCACCTGCTCCTCTCCCGCCTCCCTCTGCTACCAAGCTGGGCCTCTGCCCCCTCTCTCCTGGCTTGCTGCAATCAGCCTTGATGACTCCATCCATTTACCTCACTGCAGCCTGAGAGCAATTCTAAAACACAGGTCTGACCACATTGCTCCCTTGAGAAGACTGTCGGCAGGTTACCACTATTCTCAGAGTAAAATCAATGTATCGTTCCCTTTGTTATCTGGGTGCCATCTCCTCTCCCTCCTCATCTTTCCCCACCCCTACCACTGTATGTCCCAGCCCTTCTGGCCTCATGGTCTATCATTCCCTCTGCCTGGAACCCTCCACCCACCCCATCTTTGCGCACTGGTCCTCACCGATGCCCTTCCGTGGTGGAACAGGTGCTTCCTTTGGGCTTCTATCACAGCAACTCGATCCCTCTGGCAGTTCTAAGCAGTCTGGCAGCGTCTTCTTAAAGGCAGGAACCCCAGCATGGCCTGGCCCAGGACTGGCCTTCAGGAGGACTGTGAATTCATGGAGGTGTTGGAAGCTGGGCAGGATTTGGATGGCTCTCTGTCATTGCCCAGCATAACCAATTGTGGGACCCCGGTCCCCTCTACACCCCCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTACGTCTGTCCGTGGTTTGGCCCTGTGGTCCCCATTGAAGTGTACACTTTAGTTTTTCTGAGTGTTCTTCCAGGAGCAGCATAGTGCCAGGAAGGTCTAAGGAGCTGGAAGAAGAGCTTTCCAAGCAAGAAAGAGACAAGCCAGGGTTAGGACTCTGGAGGGGGCAGTCTTCCCACTCTGAAGGCCAGAAAGTGTAGTGGCTCAGGGTCTGTGCTCTTAACCCTTTGTTACCAGTTGTCAGGTTTTGGGCAAGTCACTTCCCTTCTCTGAGCCTCAGTTTTCTAATCTCCAGAAGAGGGATTATGACGGTACCTGCATCCAAGGGTCGCTGGGAGGATGCAGTGAAGTCAACGTTCGCTGTGGGTGTGGCCTGTGCAGGAGACCCTGTCTGCCTGGTGCAGTGATCCCCTGGCCCCTCCTCAGGTGCTGTATCCTTCGGGGAGCAGGAGCAGGTGGAAGAACCTTGACAGACCTGAGTGCGGTGCAAGATTAGAGGGGCCCGGCAAGCCCAGATGAGTGAAAGGAAGGAAGGGTCAAAGACCAGGAATGAAGAAAATCATTGAGCAGGAATGAGTGCCTGGGAGCGAAGGAGTGAGCCCAGGGAGCAGTGAGTGGGGTCTTCCAGGGAGCTTGTTGGTGTGGGGCCCTGCATGGGGACTACCCTCAGAGTGTCAGCGAGCACTGATAGGGCCAGGAAGGCATATCTTAACCCTTTGTCTTAGATGCTTGGGGCAAGTTGCTTAACTGCCCTGTGCCTCTGTTTCCTCATTCGTAAGGGGGATGGTAGCCCTTCCCAAGACAGCTGTTGAGGGCAGTCTTGGGGCAGTTGGCAAAGTGCCCTCAGCACAGAGTAAGCGCTCAGGGCCAGGGGTTGGTGTCATGATCGGGGACTCGCCCTGGGACAGCCCTTCAGCAGGGCCAGACCACGTGGCTGTCCAGAGCCCCCATGGACCAGCATGGCTTGCAGCCTGCTCCTGGACTGTCTACTGCTCACAGCTGGACCAGGCCCTTGGCCCCACATGCTCTAGGAGGGCAAACGCCCTGTGGTGTTTGTCTAAGGTCTAGTGTCATCCGTGCGGAAAAAGATTTCCAGACACCAGGCAGCAAGCTGGGCCCCCGCCAGCTGTGCTGAGCACTGCACCTGTTTTTGCTGAAGGGTTCTCTTGTGAGGGCACCAGGCAGGACCGAGCAAGCCTCATGGGAATCATGGGAGCCGCTGAGCTCTCCACATGGGAGAGCTGGCCGCCTCTGCAAGAATGACTGTCCAGCACTGAGGGTCAGCAGAAGTGTCTGGGCAGCTGCAAATGGGACTCATGCAGAGGCAGCATGGTGCAGGGTAAGGAGTTGAGTCACATCCACTCTAGACTTCACTTGGCAGGCCACTCACCTTGGTGACGCTGTCTGTCGTCTGTGAAGTGAGAAGAGTGGTGTTCATCATGATAGGTAGTGCCTCCCTGGGCTCTTGACACCAGAGTGCTGTTCTTTTTTTCTTCTCCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGCGATCCGCCCTCCTCCACCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACGGTGGCGCAGTCTTGGCTCATTGCAACTTCTGCCTTCCAGGTTCAGGTGATTCTCCTGCCTCAGACTCCGGAGTAGCTGGAATTAAAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGTCAGGCTGGTTTCAAACTCCTGACCTCAAGTGATTCGTTT
ATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCCCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACCGGGATTACAGGTGTGAGCCACCGTGCCTAGCCTGTCTGTAGATACATCTTTAGGAAGTGCTCAGCTGCTCAGCAGCACACTCTGAGACCCAGCCCCATCCTTTCTCTGCTTCACTGTTGTTGGTGAGTTGACCTTCGTGCTCTGCTTGTGGCCTCGTGTTCACAGCATGGCTGCTGCATGTCCAAGCTTCATGGCTGTCTGCAAGGCAGGAAGAAGTAGGGAGTGGGTAGGGCTGGCACCAGCAGCAGTGGTCTCTTCTATCCAGAAAGCAAAAGCAGACTTCCACCAAAATATCTGGCTAAAACTGTGTCCCATGGCCACCTCTGGCTGCAAGGGAGGCCAGGGACCTGAGTGCGTGTCTTTTTGAGGCTCAGGTTAGGGGATTTGGGAGAAGGGAACTGGGCACTGGTGTGGCCAGCTGACAGGGTCTGCTGCCCCCTAGCACAGCCGACTCAGCTTCCTCAGACACATCCACCTGCTCCTCTCCCGCCTCCCTCTGCTACCAAGCTGGGCCTCTGCCCCCTCTCTCCTGGCTTGCTGCAATCAGCCTTGATGACTCCATCCATTTACCTCACTGCAGCCTGAGAGCAATTCTAAAACACAGGTCTGACCACATTGCTCCCTTGAGAAGACTGTCGGCAGGTTACCACTATTCTCAGAGTAAAATCAATGTATCGTTCCCTTTGTTATCTGGGTGCCATCTCCTCTCCCTCCTCATCTTTCCCCACCCCTACCACTGTATGTCCCAGCCCTTCTGGCCTCATGGTCTATCATTCCCTCTGCCTGGAACCCTCCACCCACCCCATCTTTGCGCACTGGTCCTCACCGATGCCCTTCCGTGGTGGAACAGGTGCTTCCTTTGGGCTTCTATCACAGCAACTCGATCCCTCTGGCAGTTCTAAGCAGTCTGGCAGCGTCTTCTTAAAGGCAGGAACCCCAGCATGGCCTGGCCCAGGACTGGCCTTCAGGAGGACTGTGAATTCATGGAGGTGTTGGAAGCTGGGCAGGATTTGGATGGCTCTCTGTCATTGCCCAGCATAACCAATTGTGGGACCCCGGTCCCCTCTACACCCCCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCCGTACCGGGAGGCAGGTACGTCTGTCCGTGGTTTGGCCCTGTGGTCCCCATTGAAGTGTACACTTTAGTTTTTCTGAGTGTTCTTCCAGGAGCAGCATAGTGCCAGGAAGGTCTAAGGAGCTGGAAGAAGAGCTTTCCAAGCAAGAAAGAGACAAGCCAGGGTTAGGACTCTGGAGGGGGCAGTCTTCCCACTCTGAAGGCCAGAAAGTGTAGTGGCTCAGGGTCTGTGCTCTTAACCCTTTGTTACCAGTTGTCAGGTTTTGGGCAAGTCACTTCCCTTCTCTGAGCCTCAGTTTTCTAATCTCCAGAAGAGGGATTATGACGGTACCTGCATCCAAGGGTCGCTGGGAGGATGCAGTGAAGTCAACGTTCGCTGTGGGTGTGGCCTGTGCAGGAGACCCTGTCTGCCTGGTGCAGTGATCCCCTGGCCCCTCCTCAGGTGCTGTATCCTTCGGGGAGCAGGAGCAGGTGGAAGAACCTTGACAGACCTGAGTGCGGTGCAAGATTAGAGGGGCCCGGCAAGCCCAGATGAGTGAAAGGAAGGAAGGGTCAAAGACCAGGAATGAAGAAAATCATTGAGCAGGAATGAGTGCCTGGGAGCGAAGGAGTGAGCCCAGGGAGCAGTGAGTGGGGTCTTCCAGGGAGCTTGTTGGTGTGGGGCCCTGCATGGGGACTACCCTCAGAGTGTCAGCGAGCACTGATAGGGCCAGGAAGGCATATCTTAACCCTTTGTCTTAGATGCTTGGGGCAAGTTGCTTAACTGCCCTGTGCCTCTGTTTCCTCATTCGTAAGGGGGATGGTAGCCCTTCCCAAGACAGCTGTTGAGGGCAGTCTTGGGGCAGTTGGCAAAGTGCCCTCAGCACAGAGTAAGCGCTCAGGGCCAGGGGTTGGTGTCATGATCGGGGACTCGCCCTGGGACAGCCCTTCAGCAGGGCCAGACCACGTGGCTGTCCAGAGCCCCCATGGACCAGCATGGCTTGCAGCCTGCTCCTGGACTGTCTACTGCTCACAGCTGGACCAGGCCCTTGGCCCCACATGCTCTAGGAGGGCAAACGCCCTGTGGTGTTTGTCTAAGGTCTAGTGTCATCCGTGCGGAAAAAGATTTCCAGACACCAGGCAGCAAGCTGGGCCCCCGCCAGCTGTGCTGAGCACTGCACCTGTTTTTGCTGAAGGGTTCTCTTGTGAGGGCACCAGGCAGGACCGAGCAAGCCTCATGGGAATCATGGGAGCCGCTGAGCTCTCCACATGGGAGAGCTGGCCGCCTCTGCAAGAATGACTGTCCAGCACTGAGGGTCAGCAGAAGTGTCTGGGCAGCTGCAAATGGGACTCATGCAGAGGCAGCATGGTGCAGGGTAAGGAGTTGAGTCACATCCACTCTAGACTTCACTTGGCAGGCCACTCACCTTGGTGACGCTGTCTGTCGTCTGTGAAGTGAGAAGAGTGGTGTTCATCATGATAGGTAGTGCCTCCCTGGGCTCTTGACACCAGAGTGCTGTTCTTTTTTTCTTCTCCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGCGATCCGCCCTCCTCCACCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACGGTGGCGCAGTCTTGGCTCATTGCAACTTCTGCCTTCCAGGTTCAGGTGATTCTCCTGCCTCAGACTCCGGAGTAGCTGGAATTAAAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGTCAGGCTGGTTTCAAACTCCTGACCTCAAGTGATTCGTTT
Task1_train_27169
This is a variant in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; Maple syrup urine disease
ATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCCCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACCGGGATTACAGGTGTGAGCCACCGTGCCTAGCCTGTCTGTAGATACATCTTTAGGAAGTGCTCAGCTGCTCAGCAGCACACTCTGAGACCCAGCCCCATCCTTTCTCTGCTTCACTGTTGTTGGTGAGTTGACCTTCGTGCTCTGCTTGTGGCCTCGTGTTCACAGCATGGCTGCTGCATGTCCAAGCTTCATGGCTGTCTGCAAGGCAGGAAGAAGTAGGGAGTGGGTAGGGCTGGCACCAGCAGCAGTGGTCTCTTCTATCCAGAAAGCAAAAGCAGACTTCCACCAAAATATCTGGCTAAAACTGTGTCCCATGGCCACCTCTGGCTGCAAGGGAGGCCAGGGACCTGAGTGCGTGTCTTTTTGAGGCTCAGGTTAGGGGATTTGGGAGAAGGGAACTGGGCACTGGTGTGGCCAGCTGACAGGGTCTGCTGCCCCCTAGCACAGCCGACTCAGCTTCCTCAGACACATCCACCTGCTCCTCTCCCGCCTCCCTCTGCTACCAAGCTGGGCCTCTGCCCCCTCTCTCCTGGCTTGCTGCAATCAGCCTTGATGACTCCATCCATTTACCTCACTGCAGCCTGAGAGCAATTCTAAAACACAGGTCTGACCACATTGCTCCCTTGAGAAGACTGTCGGCAGGTTACCACTATTCTCAGAGTAAAATCAATGTATCGTTCCCTTTGTTATCTGGGTGCCATCTCCTCTCCCTCCTCATCTTTCCCCACCCCTACCACTGTATGTCCCAGCCCTTCTGGCCTCATGGTCTATCATTCCCTCTGCCTGGAACCCTCCACCCACCCCATCTTTGCGCACTGGTCCTCACCGATGCCCTTCCGTGGTGGAACAGGTGCTTCCTTTGGGCTTCTATCACAGCAACTCGATCCCTCTGGCAGTTCTAAGCAGTCTGGCAGCGTCTTCTTAAAGGCAGGAACCCCAGCATGGCCTGGCCCAGGACTGGCCTTCAGGAGGACTGTGAATTCATGGAGGTGTTGGAAGCTGGGCAGGATTTGGATGGCTCTCTGTCATTGCCCAGCATAACCAATTGTGGGACCCCGGTCCCCTCTACACCCCCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTACGTCTGTCCGTGGTTTGGCCCTGTGGTCCCCATTGAAGTGTACACTTTAGTTTTTCTGAGTGTTCTTCCAGGAGCAGCATAGTGCCAGGAAGGTCTAAGGAGCTGGAAGAAGAGCTTTCCAAGCAAGAAAGAGACAAGCCAGGGTTAGGACTCTGGAGGGGGCAGTCTTCCCACTCTGAAGGCCAGAAAGTGTAGTGGCTCAGGGTCTGTGCTCTTAACCCTTTGTTACCAGTTGTCAGGTTTTGGGCAAGTCACTTCCCTTCTCTGAGCCTCAGTTTTCTAATCTCCAGAAGAGGGATTATGACGGTACCTGCATCCAAGGGTCGCTGGGAGGATGCAGTGAAGTCAACGTTCGCTGTGGGTGTGGCCTGTGCAGGAGACCCTGTCTGCCTGGTGCAGTGATCCCCTGGCCCCTCCTCAGGTGCTGTATCCTTCGGGGAGCAGGAGCAGGTGGAAGAACCTTGACAGACCTGAGTGCGGTGCAAGATTAGAGGGGCCCGGCAAGCCCAGATGAGTGAAAGGAAGGAAGGGTCAAAGACCAGGAATGAAGAAAATCATTGAGCAGGAATGAGTGCCTGGGAGCGAAGGAGTGAGCCCAGGGAGCAGTGAGTGGGGTCTTCCAGGGAGCTTGTTGGTGTGGGGCCCTGCATGGGGACTACCCTCAGAGTGTCAGCGAGCACTGATAGGGCCAGGAAGGCATATCTTAACCCTTTGTCTTAGATGCTTGGGGCAAGTTGCTTAACTGCCCTGTGCCTCTGTTTCCTCATTCGTAAGGGGGATGGTAGCCCTTCCCAAGACAGCTGTTGAGGGCAGTCTTGGGGCAGTTGGCAAAGTGCCCTCAGCACAGAGTAAGCGCTCAGGGCCAGGGGTTGGTGTCATGATCGGGGACTCGCCCTGGGACAGCCCTTCAGCAGGGCCAGACCACGTGGCTGTCCAGAGCCCCCATGGACCAGCATGGCTTGCAGCCTGCTCCTGGACTGTCTACTGCTCACAGCTGGACCAGGCCCTTGGCCCCACATGCTCTAGGAGGGCAAACGCCCTGTGGTGTTTGTCTAAGGTCTAGTGTCATCCGTGCGGAAAAAGATTTCCAGACACCAGGCAGCAAGCTGGGCCCCCGCCAGCTGTGCTGAGCACTGCACCTGTTTTTGCTGAAGGGTTCTCTTGTGAGGGCACCAGGCAGGACCGAGCAAGCCTCATGGGAATCATGGGAGCCGCTGAGCTCTCCACATGGGAGAGCTGGCCGCCTCTGCAAGAATGACTGTCCAGCACTGAGGGTCAGCAGAAGTGTCTGGGCAGCTGCAAATGGGACTCATGCAGAGGCAGCATGGTGCAGGGTAAGGAGTTGAGTCACATCCACTCTAGACTTCACTTGGCAGGCCACTCACCTTGGTGACGCTGTCTGTCGTCTGTGAAGTGAGAAGAGTGGTGTTCATCATGATAGGTAGTGCCTCCCTGGGCTCTTGACACCAGAGTGCTGTTCTTTTTTTCTTCTCCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGCGATCCGCCCTCCTCCACCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACGGTGGCGCAGTCTTGGCTCATTGCAACTTCTGCCTTCCAGGTTCAGGTGATTCTCCTGCCTCAGACTCCGGAGTAGCTGGAATTAAAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGTCAGGCTGGTTTCAAACTCCTGACCTCAAGTGATTCGTTTGCCTTG
ATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCCCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACCGGGATTACAGGTGTGAGCCACCGTGCCTAGCCTGTCTGTAGATACATCTTTAGGAAGTGCTCAGCTGCTCAGCAGCACACTCTGAGACCCAGCCCCATCCTTTCTCTGCTTCACTGTTGTTGGTGAGTTGACCTTCGTGCTCTGCTTGTGGCCTCGTGTTCACAGCATGGCTGCTGCATGTCCAAGCTTCATGGCTGTCTGCAAGGCAGGAAGAAGTAGGGAGTGGGTAGGGCTGGCACCAGCAGCAGTGGTCTCTTCTATCCAGAAAGCAAAAGCAGACTTCCACCAAAATATCTGGCTAAAACTGTGTCCCATGGCCACCTCTGGCTGCAAGGGAGGCCAGGGACCTGAGTGCGTGTCTTTTTGAGGCTCAGGTTAGGGGATTTGGGAGAAGGGAACTGGGCACTGGTGTGGCCAGCTGACAGGGTCTGCTGCCCCCTAGCACAGCCGACTCAGCTTCCTCAGACACATCCACCTGCTCCTCTCCCGCCTCCCTCTGCTACCAAGCTGGGCCTCTGCCCCCTCTCTCCTGGCTTGCTGCAATCAGCCTTGATGACTCCATCCATTTACCTCACTGCAGCCTGAGAGCAATTCTAAAACACAGGTCTGACCACATTGCTCCCTTGAGAAGACTGTCGGCAGGTTACCACTATTCTCAGAGTAAAATCAATGTATCGTTCCCTTTGTTATCTGGGTGCCATCTCCTCTCCCTCCTCATCTTTCCCCACCCCTACCACTGTATGTCCCAGCCCTTCTGGCCTCATGGTCTATCATTCCCTCTGCCTGGAACCCTCCACCCACCCCATCTTTGCGCACTGGTCCTCACCGATGCCCTTCCGTGGTGGAACAGGTGCTTCCTTTGGGCTTCTATCACAGCAACTCGATCCCTCTGGCAGTTCTAAGCAGTCTGGCAGCGTCTTCTTAAAGGCAGGAACCCCAGCATGGCCTGGCCCAGGACTGGCCTTCAGGAGGACTGTGAATTCATGGAGGTGTTGGAAGCTGGGCAGGATTTGGATGGCTCTCTGTCATTGCCCAGCATAACCAATTGTGGGACCCCGGTCCCCTCTACACCCCCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAGTACCAGGAGGCAGGTACGTCTGTCCGTGGTTTGGCCCTGTGGTCCCCATTGAAGTGTACACTTTAGTTTTTCTGAGTGTTCTTCCAGGAGCAGCATAGTGCCAGGAAGGTCTAAGGAGCTGGAAGAAGAGCTTTCCAAGCAAGAAAGAGACAAGCCAGGGTTAGGACTCTGGAGGGGGCAGTCTTCCCACTCTGAAGGCCAGAAAGTGTAGTGGCTCAGGGTCTGTGCTCTTAACCCTTTGTTACCAGTTGTCAGGTTTTGGGCAAGTCACTTCCCTTCTCTGAGCCTCAGTTTTCTAATCTCCAGAAGAGGGATTATGACGGTACCTGCATCCAAGGGTCGCTGGGAGGATGCAGTGAAGTCAACGTTCGCTGTGGGTGTGGCCTGTGCAGGAGACCCTGTCTGCCTGGTGCAGTGATCCCCTGGCCCCTCCTCAGGTGCTGTATCCTTCGGGGAGCAGGAGCAGGTGGAAGAACCTTGACAGACCTGAGTGCGGTGCAAGATTAGAGGGGCCCGGCAAGCCCAGATGAGTGAAAGGAAGGAAGGGTCAAAGACCAGGAATGAAGAAAATCATTGAGCAGGAATGAGTGCCTGGGAGCGAAGGAGTGAGCCCAGGGAGCAGTGAGTGGGGTCTTCCAGGGAGCTTGTTGGTGTGGGGCCCTGCATGGGGACTACCCTCAGAGTGTCAGCGAGCACTGATAGGGCCAGGAAGGCATATCTTAACCCTTTGTCTTAGATGCTTGGGGCAAGTTGCTTAACTGCCCTGTGCCTCTGTTTCCTCATTCGTAAGGGGGATGGTAGCCCTTCCCAAGACAGCTGTTGAGGGCAGTCTTGGGGCAGTTGGCAAAGTGCCCTCAGCACAGAGTAAGCGCTCAGGGCCAGGGGTTGGTGTCATGATCGGGGACTCGCCCTGGGACAGCCCTTCAGCAGGGCCAGACCACGTGGCTGTCCAGAGCCCCCATGGACCAGCATGGCTTGCAGCCTGCTCCTGGACTGTCTACTGCTCACAGCTGGACCAGGCCCTTGGCCCCACATGCTCTAGGAGGGCAAACGCCCTGTGGTGTTTGTCTAAGGTCTAGTGTCATCCGTGCGGAAAAAGATTTCCAGACACCAGGCAGCAAGCTGGGCCCCCGCCAGCTGTGCTGAGCACTGCACCTGTTTTTGCTGAAGGGTTCTCTTGTGAGGGCACCAGGCAGGACCGAGCAAGCCTCATGGGAATCATGGGAGCCGCTGAGCTCTCCACATGGGAGAGCTGGCCGCCTCTGCAAGAATGACTGTCCAGCACTGAGGGTCAGCAGAAGTGTCTGGGCAGCTGCAAATGGGACTCATGCAGAGGCAGCATGGTGCAGGGTAAGGAGTTGAGTCACATCCACTCTAGACTTCACTTGGCAGGCCACTCACCTTGGTGACGCTGTCTGTCGTCTGTGAAGTGAGAAGAGTGGTGTTCATCATGATAGGTAGTGCCTCCCTGGGCTCTTGACACCAGAGTGCTGTTCTTTTTTTCTTCTCCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGCGATCCGCCCTCCTCCACCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACGGTGGCGCAGTCTTGGCTCATTGCAACTTCTGCCTTCCAGGTTCAGGTGATTCTCCTGCCTCAGACTCCGGAGTAGCTGGAATTAAAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGTCAGGCTGGTTTCAAACTCCTGACCTCAAGTGATTCGTTTGCCTTG
Task1_train_27170
This sequence variant lies in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Maple syrup urine disease type 1A
ATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCCCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACCGGGATTACAGGTGTGAGCCACCGTGCCTAGCCTGTCTGTAGATACATCTTTAGGAAGTGCTCAGCTGCTCAGCAGCACACTCTGAGACCCAGCCCCATCCTTTCTCTGCTTCACTGTTGTTGGTGAGTTGACCTTCGTGCTCTGCTTGTGGCCTCGTGTTCACAGCATGGCTGCTGCATGTCCAAGCTTCATGGCTGTCTGCAAGGCAGGAAGAAGTAGGGAGTGGGTAGGGCTGGCACCAGCAGCAGTGGTCTCTTCTATCCAGAAAGCAAAAGCAGACTTCCACCAAAATATCTGGCTAAAACTGTGTCCCATGGCCACCTCTGGCTGCAAGGGAGGCCAGGGACCTGAGTGCGTGTCTTTTTGAGGCTCAGGTTAGGGGATTTGGGAGAAGGGAACTGGGCACTGGTGTGGCCAGCTGACAGGGTCTGCTGCCCCCTAGCACAGCCGACTCAGCTTCCTCAGACACATCCACCTGCTCCTCTCCCGCCTCCCTCTGCTACCAAGCTGGGCCTCTGCCCCCTCTCTCCTGGCTTGCTGCAATCAGCCTTGATGACTCCATCCATTTACCTCACTGCAGCCTGAGAGCAATTCTAAAACACAGGTCTGACCACATTGCTCCCTTGAGAAGACTGTCGGCAGGTTACCACTATTCTCAGAGTAAAATCAATGTATCGTTCCCTTTGTTATCTGGGTGCCATCTCCTCTCCCTCCTCATCTTTCCCCACCCCTACCACTGTATGTCCCAGCCCTTCTGGCCTCATGGTCTATCATTCCCTCTGCCTGGAACCCTCCACCCACCCCATCTTTGCGCACTGGTCCTCACCGATGCCCTTCCGTGGTGGAACAGGTGCTTCCTTTGGGCTTCTATCACAGCAACTCGATCCCTCTGGCAGTTCTAAGCAGTCTGGCAGCGTCTTCTTAAAGGCAGGAACCCCAGCATGGCCTGGCCCAGGACTGGCCTTCAGGAGGACTGTGAATTCATGGAGGTGTTGGAAGCTGGGCAGGATTTGGATGGCTCTCTGTCATTGCCCAGCATAACCAATTGTGGGACCCCGGTCCCCTCTACACCCCCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTACGTCTGTCCGTGGTTTGGCCCTGTGGTCCCCATTGAAGTGTACACTTTAGTTTTTCTGAGTGTTCTTCCAGGAGCAGCATAGTGCCAGGAAGGTCTAAGGAGCTGGAAGAAGAGCTTTCCAAGCAAGAAAGAGACAAGCCAGGGTTAGGACTCTGGAGGGGGCAGTCTTCCCACTCTGAAGGCCAGAAAGTGTAGTGGCTCAGGGTCTGTGCTCTTAACCCTTTGTTACCAGTTGTCAGGTTTTGGGCAAGTCACTTCCCTTCTCTGAGCCTCAGTTTTCTAATCTCCAGAAGAGGGATTATGACGGTACCTGCATCCAAGGGTCGCTGGGAGGATGCAGTGAAGTCAACGTTCGCTGTGGGTGTGGCCTGTGCAGGAGACCCTGTCTGCCTGGTGCAGTGATCCCCTGGCCCCTCCTCAGGTGCTGTATCCTTCGGGGAGCAGGAGCAGGTGGAAGAACCTTGACAGACCTGAGTGCGGTGCAAGATTAGAGGGGCCCGGCAAGCCCAGATGAGTGAAAGGAAGGAAGGGTCAAAGACCAGGAATGAAGAAAATCATTGAGCAGGAATGAGTGCCTGGGAGCGAAGGAGTGAGCCCAGGGAGCAGTGAGTGGGGTCTTCCAGGGAGCTTGTTGGTGTGGGGCCCTGCATGGGGACTACCCTCAGAGTGTCAGCGAGCACTGATAGGGCCAGGAAGGCATATCTTAACCCTTTGTCTTAGATGCTTGGGGCAAGTTGCTTAACTGCCCTGTGCCTCTGTTTCCTCATTCGTAAGGGGGATGGTAGCCCTTCCCAAGACAGCTGTTGAGGGCAGTCTTGGGGCAGTTGGCAAAGTGCCCTCAGCACAGAGTAAGCGCTCAGGGCCAGGGGTTGGTGTCATGATCGGGGACTCGCCCTGGGACAGCCCTTCAGCAGGGCCAGACCACGTGGCTGTCCAGAGCCCCCATGGACCAGCATGGCTTGCAGCCTGCTCCTGGACTGTCTACTGCTCACAGCTGGACCAGGCCCTTGGCCCCACATGCTCTAGGAGGGCAAACGCCCTGTGGTGTTTGTCTAAGGTCTAGTGTCATCCGTGCGGAAAAAGATTTCCAGACACCAGGCAGCAAGCTGGGCCCCCGCCAGCTGTGCTGAGCACTGCACCTGTTTTTGCTGAAGGGTTCTCTTGTGAGGGCACCAGGCAGGACCGAGCAAGCCTCATGGGAATCATGGGAGCCGCTGAGCTCTCCACATGGGAGAGCTGGCCGCCTCTGCAAGAATGACTGTCCAGCACTGAGGGTCAGCAGAAGTGTCTGGGCAGCTGCAAATGGGACTCATGCAGAGGCAGCATGGTGCAGGGTAAGGAGTTGAGTCACATCCACTCTAGACTTCACTTGGCAGGCCACTCACCTTGGTGACGCTGTCTGTCGTCTGTGAAGTGAGAAGAGTGGTGTTCATCATGATAGGTAGTGCCTCCCTGGGCTCTTGACACCAGAGTGCTGTTCTTTTTTTCTTCTCCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGCGATCCGCCCTCCTCCACCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACGGTGGCGCAGTCTTGGCTCATTGCAACTTCTGCCTTCCAGGTTCAGGTGATTCTCCTGCCTCAGACTCCGGAGTAGCTGGAATTAAAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGTCAGGCTGGTTTCAAACTCCTGACCTCAAGTGATTCGTTTGCCTTG
ATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCCCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACCGGGATTACAGGTGTGAGCCACCGTGCCTAGCCTGTCTGTAGATACATCTTTAGGAAGTGCTCAGCTGCTCAGCAGCACACTCTGAGACCCAGCCCCATCCTTTCTCTGCTTCACTGTTGTTGGTGAGTTGACCTTCGTGCTCTGCTTGTGGCCTCGTGTTCACAGCATGGCTGCTGCATGTCCAAGCTTCATGGCTGTCTGCAAGGCAGGAAGAAGTAGGGAGTGGGTAGGGCTGGCACCAGCAGCAGTGGTCTCTTCTATCCAGAAAGCAAAAGCAGACTTCCACCAAAATATCTGGCTAAAACTGTGTCCCATGGCCACCTCTGGCTGCAAGGGAGGCCAGGGACCTGAGTGCGTGTCTTTTTGAGGCTCAGGTTAGGGGATTTGGGAGAAGGGAACTGGGCACTGGTGTGGCCAGCTGACAGGGTCTGCTGCCCCCTAGCACAGCCGACTCAGCTTCCTCAGACACATCCACCTGCTCCTCTCCCGCCTCCCTCTGCTACCAAGCTGGGCCTCTGCCCCCTCTCTCCTGGCTTGCTGCAATCAGCCTTGATGACTCCATCCATTTACCTCACTGCAGCCTGAGAGCAATTCTAAAACACAGGTCTGACCACATTGCTCCCTTGAGAAGACTGTCGGCAGGTTACCACTATTCTCAGAGTAAAATCAATGTATCGTTCCCTTTGTTATCTGGGTGCCATCTCCTCTCCCTCCTCATCTTTCCCCACCCCTACCACTGTATGTCCCAGCCCTTCTGGCCTCATGGTCTATCATTCCCTCTGCCTGGAACCCTCCACCCACCCCATCTTTGCGCACTGGTCCTCACCGATGCCCTTCCGTGGTGGAACAGGTGCTTCCTTTGGGCTTCTATCACAGCAACTCGATCCCTCTGGCAGTTCTAAGCAGTCTGGCAGCGTCTTCTTAAAGGCAGGAACCCCAGCATGGCCTGGCCCAGGACTGGCCTTCAGGAGGACTGTGAATTCATGGAGGTGTTGGAAGCTGGGCAGGATTTGGATGGCTCTCTGTCATTGCCCAGCATAACCAATTGTGGGACCCCGGTCCCCTCTACACCCCCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAGTACCAGGAGGCAGGTACGTCTGTCCGTGGTTTGGCCCTGTGGTCCCCATTGAAGTGTACACTTTAGTTTTTCTGAGTGTTCTTCCAGGAGCAGCATAGTGCCAGGAAGGTCTAAGGAGCTGGAAGAAGAGCTTTCCAAGCAAGAAAGAGACAAGCCAGGGTTAGGACTCTGGAGGGGGCAGTCTTCCCACTCTGAAGGCCAGAAAGTGTAGTGGCTCAGGGTCTGTGCTCTTAACCCTTTGTTACCAGTTGTCAGGTTTTGGGCAAGTCACTTCCCTTCTCTGAGCCTCAGTTTTCTAATCTCCAGAAGAGGGATTATGACGGTACCTGCATCCAAGGGTCGCTGGGAGGATGCAGTGAAGTCAACGTTCGCTGTGGGTGTGGCCTGTGCAGGAGACCCTGTCTGCCTGGTGCAGTGATCCCCTGGCCCCTCCTCAGGTGCTGTATCCTTCGGGGAGCAGGAGCAGGTGGAAGAACCTTGACAGACCTGAGTGCGGTGCAAGATTAGAGGGGCCCGGCAAGCCCAGATGAGTGAAAGGAAGGAAGGGTCAAAGACCAGGAATGAAGAAAATCATTGAGCAGGAATGAGTGCCTGGGAGCGAAGGAGTGAGCCCAGGGAGCAGTGAGTGGGGTCTTCCAGGGAGCTTGTTGGTGTGGGGCCCTGCATGGGGACTACCCTCAGAGTGTCAGCGAGCACTGATAGGGCCAGGAAGGCATATCTTAACCCTTTGTCTTAGATGCTTGGGGCAAGTTGCTTAACTGCCCTGTGCCTCTGTTTCCTCATTCGTAAGGGGGATGGTAGCCCTTCCCAAGACAGCTGTTGAGGGCAGTCTTGGGGCAGTTGGCAAAGTGCCCTCAGCACAGAGTAAGCGCTCAGGGCCAGGGGTTGGTGTCATGATCGGGGACTCGCCCTGGGACAGCCCTTCAGCAGGGCCAGACCACGTGGCTGTCCAGAGCCCCCATGGACCAGCATGGCTTGCAGCCTGCTCCTGGACTGTCTACTGCTCACAGCTGGACCAGGCCCTTGGCCCCACATGCTCTAGGAGGGCAAACGCCCTGTGGTGTTTGTCTAAGGTCTAGTGTCATCCGTGCGGAAAAAGATTTCCAGACACCAGGCAGCAAGCTGGGCCCCCGCCAGCTGTGCTGAGCACTGCACCTGTTTTTGCTGAAGGGTTCTCTTGTGAGGGCACCAGGCAGGACCGAGCAAGCCTCATGGGAATCATGGGAGCCGCTGAGCTCTCCACATGGGAGAGCTGGCCGCCTCTGCAAGAATGACTGTCCAGCACTGAGGGTCAGCAGAAGTGTCTGGGCAGCTGCAAATGGGACTCATGCAGAGGCAGCATGGTGCAGGGTAAGGAGTTGAGTCACATCCACTCTAGACTTCACTTGGCAGGCCACTCACCTTGGTGACGCTGTCTGTCGTCTGTGAAGTGAGAAGAGTGGTGTTCATCATGATAGGTAGTGCCTCCCTGGGCTCTTGACACCAGAGTGCTGTTCTTTTTTTCTTCTCCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGCGATCCGCCCTCCTCCACCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACGGTGGCGCAGTCTTGGCTCATTGCAACTTCTGCCTTCCAGGTTCAGGTGATTCTCCTGCCTCAGACTCCGGAGTAGCTGGAATTAAAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGTCAGGCTGGTTTCAAACTCCTGACCTCAAGTGATTCGTTTGCCTTG
Task1_train_27171
A change on Chromosome 19 affects gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Maple syrup urine disease
GTTGCTGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGG
GTTGCTGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGCGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGG
Task1_train_27172
A variant has been detected on Chromosome 19 in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; not specified
GTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAG
GTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCTCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAG
Task1_train_27173
This gene mutation involves BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; Maple syrup urine disease
GTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAG
GTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCTCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAG
Task1_train_27174
Chromosome 19 houses a mutation in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Maple syrup urine disease
TTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCT
TTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCCATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCT
Task1_train_27175
This variant affects the gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Maple syrup urine disease type 1A
CTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATA
CTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGCTGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATA
Task1_train_27176
Here is a variant affecting BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Maple syrup urine disease
CTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATA
CTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGCTGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATA
Task1_train_27177
A variant was discovered in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Maple syrup urine disease type 1A
AGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCAC
AGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCAGAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCAC
Task1_train_27178
A variant was discovered in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Maple syrup urine disease
AGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCAC
AGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCAGAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCTGAAAGCCTTAAATGATTCCACACACTTGGATAGCACCTGATCCCTGCTGGGATTTGAGGGTTTTCATTACACTTCTGCTAGGATAATCATTTCCATTGTCGAGGTGGGAACACAAAGGCTTGGAGTGGTTAATTCCTTGCCAAGGCCCCGCAGGAGGAAGCAGGGTCCTGCATGGGAGGCCGGCTAGCCTGCCCACTGCCCCATGTCCCCACAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCAC
Task1_train_27179
A variant was discovered in gene RPS19 (ribosomal protein S19), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Diamond-Blackfan anemia
CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATGCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGG
CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATACCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGG
Task1_train_27180
A mutation in RPS19 (ribosomal protein S19), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Diamond-Blackfan anemia
CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATGCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGG
CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATCCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGG
Task1_train_27181
Here is a mutation in RPS19 (ribosomal protein S19) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Diamond-Blackfan anemia 1
CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATGCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGG
CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATTCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGG
Task1_train_27182
A genetic alteration is present in RPS19 (ribosomal protein S19) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Diamond-Blackfan anemia
CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATGCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGG
CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATTCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGG
Task1_train_27183
This is a variant in RPS19 (ribosomal protein S19), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; not provided
ACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATGCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGGAGTACCCCAAAGGCCTCTTTTTCACCTCACTTGCCCAGCT
ACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATGCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCTTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGGAGTACCCCAAAGGCCTCTTTTTCACCTCACTTGCCCAGCT
Task1_train_27184
This variant affects the gene RPS19 (ribosomal protein S19) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Diamond-Blackfan anemia
ACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATGCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGGAGTACCCCAAAGGCCTCTTTTTCACCTCACTTGCCCAGCTGTCCTAGCGG
ACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAACACATTTTGCAGCCACAGTATCAGTGTGGGGTAAAATTCTAATATTTGCTCTTATGTTTTAAATTCTCAGTCTTTCCAACATAAGAAAATAGCTACACACATTTCAGTGTTTCCTTTTTGCAACAAGTTAACATAATTTTATTGGACCACGTTATTTAGTTGTTGGGCCTTGTAAGGATTAAATGAGATCATGCATGTAACACTACAGTAACAGCCACATGATAAATGTCCAAATAATATTTACCTGTGCCTGGCACAGAGCAGGCACTCAAAAAATATTTTTTAGAGCATGTGACGCGCCATGAACCAGAGGAGCCACTTTAAATGGACAAACGGGGATCTCATTTTTTTTTTTTTTTTTTAATGGTGAGACAAGCCCTGAGAAGGCAAATGGACTGCCTAAAGCTACACAGGTCAGCGGGGCAGGTAAATCTAAATTGGCAAAGTAAGGGCTGAGCGAACAGACTCCGACACTAGAAGGCAGAGCTGAACTAACTTCTGCTAAGGTCCCGCCTCTGCCGCTTTGTCCCGCCCTTATCTTCTCCCCTCCTCCAGCGCCTCATTCCCTTTTCGCTCGCCCCGGCCGTGCTGAAGCAACTTCCGCCCTGAGAAGGGTGGGGCTTCCGTCTCCCGCTCTCGCGACTCCTGGCGGTGAAGGACGGAAGATGATAGCCACATTTCTTCCTCGCCCTTCCCCTAGGTTCCCTGTCACAGTTCCGCCCTTACTACTCCCACTTCCGGCCAGGGAACAGCCACTTCCACCCGGAAAAGGGGTTGTTCCGCCGTGGGGCGCCAGCTGTGGCCCACCCATCCTGCCCCGTACTTTCGCCATCATAGTATTCTCCACCACTGTTCCTTCCAGCCACGAACGACGCAAACGAAGCCAAGTTCCCCCAGCTCCGAACAGGAGCTCTCTATCCTCTCTCTATTACACTCCGGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGCGACCCCTTGGCCCTCCCCTTTACCTCTCCACCCCTCACTAGACACCCTCCCCTCTAGGCGGGGACGAACTTTCGCCCTGAGAGAGGCGGAGCCTCAGCGTCTACCCTCGCTCTCGCGAGCTTTCGGAACTCTCGCGAGACCCTACGCCCGACTTGTGCGCCCGGGAAACCCCGTCGTTCCCTTTCCCCTGGCTGGCAGCGCGGAGGCCGCACGGTAAGCGGGGGCTCCGAGCTGGACCGGGCGCGAGGCGGCAGGGCCGGACGCCGAAGCCTCAGAGCGCGTGCCTGAGGGCCCCGAGGCGCCCGGCGCGGGCCCGTCCCGCCCCCTAGAGCCGCGGCCACGTGCGAGCGGCAGGCCCGGACATGCCCGGTCAGCGCCGTCCGGGAACCGAGCGTGGGCCCCGGGGGGCAGCGGCGGGGTGCGTGGGGCGTCCGGAGTCCCGGGGCTGGGGAGTGGGGTCGCGCAGGATCCTCACACGCAGGGGCCGGGCTCTGTTAGTGCGATCCAGAGAGGCCGTGGGCGTCGGTGAGCTCCTTCAGACCCGCAGGAGCCGGAGCCCGGCGTTGAAGGGGCCGTGGGAAGTAACGGGGGGTACCACGGTTTAGGATGCGCTGGAGCGAAAGGATTGGGGTGGGGTCCGTGCTCTTGGCAGTCGTCTCTGCCAGGCCTGTGTTCACATGCTTGACTTTCTCCCTCAGATGCCTGGAGTTACTGTAAAAGACGTGAACCAGCAGGAGTTCGTCAGAGCTCCGGCAGCCTTCCTCAAAAAGTGAGTTTGGGGACTGAGGTTCAAAACGGGTGGAGGCTGTCGCCTTGGCCTGCCCATCTGAGCCCCAGTGTTTGCCGGTCCCTGGCAGGCGAGGCTTGTTTGGGGCCTCCGTGGCTCCTTTCAGCGTGAGGCCTGGCTTGTGTTCCGGTTCCAGCCTCTCTTTGTACTCTGGGCACAGCATAGTTGTGTTGAGGGGAGGGCATTTGGGATATGGGGTAGTTTGTGGAGATGACTGAATCGTGCTTTTCCCACTGTTTTGGTCTTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAAAGAGCTTGCTCCCTACGATGAGAACTGGTTCTACACGCGAGCTGGTGAGGAACTTAGGTCTTTGGCTGGAGAGTGGGGAGCTGGGTGACCCCTGGCACAAACCATACTTCCCTGTCTCCTCTGAGCTCTTTCCCGCCCCAAGAGGGAGAGAAACCCTTGGTTGTGTCACCACTTGCTTTGTGTGATGTGACATTCGATAACTTGGTACTCCAAGTTTTTATGACATTCTAAGAGCTTTGTGAGAGGAGGACCTGTGGCTTTGAGCCTCAGGGGAAACCAGAGACAGATGAATGTTCATATTTTGCTTACAGGTGGTTTAATCCTTTCTATATACACGGAGGCAGACTCCCTGGGTTTGGATCCATCTTTTACATCTGGCTGTGTGTCCTCTGGCAAGTTGGTTAACCTGCCTGTGCACTCTCTCATCCCCAAAATGGGACTAATTATTGTACCAGTACTAGAGTATTGCAAGGATTGAATGAATTTAAAGCAGAGTGTTTAGAACGTGTCTGTTGCACAGTAGTTATTCAGGAAAAAGCCAGTTGTCTTTACTATTGCTCAGATCATCAAGTTAGCCTTCTCCATATCTCTAACAGGCTGTTTCTAACTAAATGGTTGGAGATCTGGCCAGGTCAGTCCCTGCTTTAAATCTTGACTTCTGATCTTATGGACACCCTGCAACCTCGTGCCAGCCCCGTCTCTTTTCAATCTTCCAATAATAATTTATGTACAGTCCCTGACTAGTGTTAGTTCTCACGTGTCTTAATATTTCAGTACTCACTAAATCTTCACTTTCAGGAAGATGTAACAGGGTGGGCGGTGGCAGTGCCGTGTTATGTCAAGGTGACAGCCTTAGCACCGACCTTCACTAAGGGGCCTCGGCCTCTCCAATCTTAAACCTTCTCTCTCTGTGAAGTGGGGACTCCATCCTGACCACAACTTGTCTCCAGATAAGAAGTAGGTGGGAAGCAGGGTTTGGAAATCGGCAAAACTCCTCCATGACCCGGAAAAGAGTTGGCCTTGGTACAGGTTGCTTGGCCCTTCAGAATATGAAGCATTTTGTAGATTTGTGGTACACTTGTGCCTCAAATGTCTATTGGGGCCCACTCTTTCAGGCCATGGAGTGAGCACAGAGGACCAGCATAACTCAGCCGCGGCCTCTGAGGACTGAAAGATGAACTTGCTGAGGTGGGTCGGGTTGCTGGCATACCACCTACCCACCGTTTGTTTTAGACAGAAAATGGGGCGGATGAAGAGAAGCTGACTTCCCTGGGCGCACAGCAGTGACAAGCCCTGGAAGTTACATATCTCCTCCACCTGTCCCCCCATCTTGCTTTGGCAGTGCCTCAAGGGTCAGTTGGTCAGAGCAGCTTTGGATCTGGGATTAGCCTTTCTCATTTGCTGGGGTGAAGACACGTTCTGCACATACCAAATACCTCCAAAGTAGGACTGTATGTGTCTTGTACATTTTTTTTTTTTTTTTTAACATGGGGAGGGATTAACAAGAGATGGCATTAAGACCTTGGATAATAAACCTAGTTGCATCTGCTGGTCATGGTAGAGCTGCTGTGGTCCCTTGCAGCCCACAGTGGCCCTGCCTGGAAACCTCAAGCAGGATGTGCATCTTCTGCCTGCCTACTGATCTCCATCACTTGGAGTACCCCAAAGGCCTCTTTTTCACCTCACTTGCCCAGCTGTCCTAGCGG
Task1_train_27185
This is a variant in RPS19 (ribosomal protein S19), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; RPS19-related disorder
GCGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCT
GCGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGTGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCT
Task1_train_27186
This variant impacts the gene RPS19 (ribosomal protein S19) on Chromosome 19. Is the change likely to result in a pathogenic outcome?
Pathogenic; Diamond-Blackfan anemia 1
GCGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCT
GCGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGTGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCT
Task1_train_27187
The variant affects gene RPS19 (ribosomal protein S19), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Diamond-Blackfan anemia
GCGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCT
GCGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGTGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCT
Task1_train_27188
An alteration has been detected in RPS19 (ribosomal protein S19) on Chromosome 19. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Diamond-Blackfan anemia
CGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTT
CGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCAGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTT
Task1_train_27189
Here’s a variant in RPS19 (ribosomal protein S19) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Diamond-Blackfan anemia
CGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTT
CGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCCGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTT
Task1_train_27190
This variant lies on Chromosome 19 and affects the gene RPS19 (ribosomal protein S19). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Diamond-Blackfan anemia
AGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTC
AGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCCGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTC
Task1_train_27191
Here’s a variant in RPS19 (ribosomal protein S19) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Diamond-Blackfan anemia 1
GTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTG
GTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGTGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTG
Task1_train_27192
This variant lies on Chromosome 19 and affects the gene RPS19 (ribosomal protein S19). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Diamond-Blackfan anemia 1
GGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCA
GGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCTGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCA
Task1_train_27193
The gene RPS19 (ribosomal protein S19) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Diamond-Blackfan anemia
GGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCA
GGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGATTAATACAGGCCAGACATGGCACATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCTGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCA
Task1_train_27194
The gene RPS19 (ribosomal protein S19), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Diamond-Blackfan anemia
GAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCACGTCTGTGAAATGGGGGAATACCCACAGTGAGAATTAGATGAGATAGATGCATTTGAAACCACAAATCGGGGTGCCCACCTGTGGTGGGTAGTTAGGTAGCTGTTACAAAGTGCCCCAGCAGAGACCCCCTTGACTAACTTTTATTCTTCCATCTTTTCCCACAGGTGGCAGCTGCCAACAAGAAGCATTAGAACAAACCATGCTGGGTTAATAAATTGCCTCATTCGTAATCCTGGTCTGGGTCTCTTTTTTGAGTCTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAATCTCCGCCTTCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGTCTGGTTTGGGTCTCTTGATTGTTCTTCAGGGGCATGAGGAAGAGGCGCTTCCTCCCTTCCCTTGGGTGAGGGGGCCCAGGGTGATTGGGTGGCTGTTTACCCGGCAGCCAGTCGGGCCTTCCCAGGTCAAACAGTTCCCATCTGGGTTTGGAGGAAGGACCCAGGGGCCCTTGTGGCTCACTCCCCCACATCCTGTCTTTGCAATTGTCAGAAAG
GAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCCACACAGACTACTGCCTGGCACTTGGCAGTTATGGAAGAACCCCCAATTCCCCCACTTGATCTTTAGAACTAGAGGAAAGAAATCACTAGAGCAGACTCAGACCAACTTGCTGATCTCTGGGTCCCAGGAACAAACCAGACTCTGCTCTGAGCTCCAGAGCTAGGCAGGACCATGTGATGGCTGAAATCTGGGTGCTTCCTGCATGTGGGCCCCGGTGCCATCACAGTGGCAGGACAGGGCAGTTCCTCCAGAGCTGTGTGACACGGAGCCAGTGAGTACCCTCTGGCACCTCAGTTTCACTCTTTAAAGGAGAGTAGCACTTGACACACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAGAAGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGCAGATGTGTGCTCCAGTTAATAGAAGCGTGCAAGCGTTTCTGGGGAGGCTGGTGTGTCGACTGGATTTTACGGAGCTTTTTTTGCAGGCAAGGAGGCTGGCTGGGGTGGACCAGGGACTTGCCCAAGCCAGCCTTCCCTGTGTCTGCAGAGGGGCTGGTACACATTCCAAGCAGGGGGCACCCACTGCACAGAGTGTCTGCCCTGCCCTTGTTATCCTGAGCTCTCCAGACTGAGGTGGCCCGGAGAGTGGCAATAGGTCCCTTCACTCCTGCTTCTCTGGGGCCCATGGAGATGGTCACAGCTAGGCTCCACCCCTACATAACCTCAGGTTCAATTCAACAGCAGTGCTGCTGGGATAGTAACCACTAAAGAAGTTGGCCCTGGAGATGGTGGGAGTGCCCACCCAGGGTGCAGGGCTGTTTGTCAAGGAAGAGCTAGCCGGGGGGGTGGGTGAGGAGAGGGGGCTGTCAGTTTCTGGGTGTTAGTGTGTGTTTTCAGTTTCCCTTCTTATAAAACAGTGAGAATTAGCTGTTTACACACAAGGAATTGTTTACCTGAGACCTTGATCAAGACCCTTAAATCTCCCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGTTGGCTCCATGACCAAGATCTATGGGGGACGTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCTGGAGGGGCTGAAAATGGTGGAAAAGGACCAAGATGGGTAAGCAGGGTAGAGGGGGCTGCATTGATGGAGTAGCCTTGAGGCCCGGTCATCAATTCCCCAACGAATGGTCCTGCATAGTCTGCCCAGCCCCTCAGGCCCCTCCTATCAGAGGCAGGCAGGAGGGGATTCTGCAGAAAAGCAAACAGCACGGGGCCTCACCCCGACCTCTCTGGCTGACTAGCCCAGGCTCCAGGAGGGTAATTTAGCGACTATCTGCTTTCATTAGCCTGCTCGTTAACTTTTCCCAATTGATTTTTCGGGGCTTTTGATCTAAATGCTTGCACAAACAACACCCCGTCAGCTCCCAGGGGGGCTCCCACTACTGCCCCCAGCTCGTTAGAATGCACCTGACTAGGGCCCTCAGTGGGACTTGGCTGGCGGCAGGTGGCTTTTTGAGAAGCCTGGCTCACAGCCAGGAGGGAAGGGGCTGAGAACAGGACCTGTGCTCACTGGGGCCTGCATGACCCTTCCCTCCCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCTGACAGGTAAGGCCTGCGTTTGGGGTGGGGCTGGGTCCCTTAGTCGCTGCCCAAGCATTTCCAAAGCCCATACTTTGTCAGGTAGACTTATTTCCTTCTCTGGAGGGCACAGCCCAGGGTGCTGGTGGGGTCAGAGGAGGGCTGCCCAGAGACAGGAGAAAGGACAGTCCTGTCTGACTTTTCCTGTTGGTGCTGCTTAGAAATTTGGAGGCAGGCTGGCTGTGGTGTCTCACCCCTGTAATCCCAGCACTTTGGGATGCCGAGGCAGGCGAATTATCTGAGGTCAGGAGTTCAAGACCATTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATTCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCACAAAAATCACTTGAACCCGGGAGGTGGAGGCTGCGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATTGGAGGGAACTCCAGCCCAGGTGCCACTGGGCATCTATCCACAGAGCACATAGCTGTACCCGTAGATGACTCCCCCTCCCCAGGTCAGCCTGCGATGTTTCCCCTTAGTCCTCATGCGTACTGAGCATCACATGGGCTGCTTGGGAGAGGTGGAGATAAGGGAGGGGGGCTGGTTCAGAACCCAGGTCTCCATTCAGATCCTGGCTGGCCAACACCCTGGGGCAGAGTGGCCACACCCCTGGTGCCACAGTCTCCTGTCTTGGCCTCCCTGTGGCCAAAATCTACCCTTGGCCACCTCAAGCATGGTAGTGAGGAGTCAGTGAGCTATAGTACAGCAGGAGCACCCAGGGCCTGGCATGAGCTCAATTCTGTATCACTGACTCAGGCCTCCTAGGAGCCTTGGAGCATTTAGTCAGTCAAGTGTCACAAAAGAATGGAAAGTGTCAGCCCTCTAGGAGTTGGGGGTGGTCTGGAAGGAGAAAGCTCTTCCAGGCAGAGTGGGGCTTGGCGCACACATCATTGCTGGTGGTTGGATGTTGGCCTTCTCACATGGCAGTGGGCGGAATTTGGACTCCACTCCGCCACTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCAGCTCACTGCAACCTCTGCCACCTGGGTTCAAGCAATTCTCCTATCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAGTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAGAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTGGCCACTCCCTTGAGACTCAGTTTCCACGTCTGTGAAATGGGGGAATACCCACAGTGAGAATTAGATGAGATAGATGCATTTGAAACCACAAATCGGGGTGCCCACCTGTGGTGGGTAGTTAGGTAGCTGTTACAAAGTGCCCCAGCAGAGACCCCCTTGACTAACTTTTATTCTTCCATCTTTTCCCACAGGTGGCAGCTGCCAACAAGAAGCATTAGAACAAACCATGCTGGGTTAATAAATTGCCTCATTCGTAATCCTGGTCTGGGTCTCTTTTTTGAGTCTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAATCTCCGCCTTCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGTCTGGTTTGGGTCTCTTGATTGTTCTTCAGGGGCATGAGGAAGAGGCGCTTCCTCCCTTCCCTTGGGTGAGGGGGCCCAGGGTGATTGGGTGGCTGTTTACCCGGCAGCCAGTCGGGCCTTCCCAGGTCAAACAGTTCCCATCTGGGTTTGGAGGAAGGACCCAGGGGCCCTTGTGGCTCACTCCCCCACATCCTGTCTTTGCAATTGTCAGAAAG
Task1_train_27195
This variant affects gene CD79A (CD79a molecule) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; Inherited Immunodeficiency Diseases
TAGCGAGGGCCACTGGAGCCCATCTCCGGGGGGCTGGGCAGGAAGTAGGGTGGGGTTTGGGGTAGGGATCTGGTACCCTGGGACTGCTGCAACTCAAACTAACCAACCCACTGGGAGAAGATGCCTGGGGGTCCAGGAGTCCTCCAAGCTCTGCCTGCCACCATCTTCCTCCTCTTCCTGCTGTCTGCTGTCTACCTGGGTATGTGGCCAAAGGGCAGGAACTGGCGGGAGGTGGGGGAAGCTGTGGAGGCTGCAGAGAGGGCACAGGCAGAGGGAAGGGGGCTCAGGGAAAGGGGAAGAGGAGGCAGAGGATAGGGGACCCAGGGAAGATGCCTATAGAAATCGTATCTGTGCCAAGATGGGCCAAGGTGGGGCTGGAGGGAGCCCAGCGAAGGAGAAGGGGCGTCCACAGTCTCACACAGGGAGGCAGGAGCAAGAGTCACCTCCCCCACCTCCTGTTCCCCACAGGCCAAAATAAGGAACTAAAGTTGCTCTTGACTGAGCACCAGGGCTGGGGGCAGGAAGGGGACTTAGGGGTAGCAGCATTCAGCGTCTGTCAAGGGGAGAAAAAGCTTTCTCTGCCTTAAACCTCAGGTGCCTCTCTCTGTTGGGAGTCCCTTCTCAGCACTGGGGGAATGGGTGTCTCATGGACTCCCCCTCACCTGCTCAAGGACAGCTGGCAGGGGCTGTGGCCACGCTAACCCAGGAGTTCAGAGAAAAAGGTTCCCCACCCAAGGGGACACTGGGAGCAAGGATTGGAGTTCACGTCTGAGTCTTAAGCCCGTGACGATGAGGGTGCTCGGCCCCTCTCCCCATCTCTTCCTCCTTCTCTCTTCCTCACCTCCCTCCTCCACCTACCTCCAGAAGAGGGGACTGGCCATGTGGGAGGCCTGGCTGAGAGCTGGGGCTTCCCAGAGGAGCCCGGATTGGACACTGCAGCCAGCCTGAGCCGCCTCGTCTCACTCAGAGACACCCCCAGTCTCCACCCCGCTCTGAGCCCCTTCAATCACCAGCAGCCCAGCCCAAGGACTGAACTCACCCCTGACCCCTAGGTTGACACATACAACTTACAGAGAATGAGGGCCAGGCACAGGGTCACAGGCCAGGGCAGGCCACAGACTGGCTCCTCAGCCCAGGCAGGGAGAGGCCAGGGAGCCAAGAGTTTGAACCCAGTGCCACTCCTGACTGCCTGGTGATGCTGGCAACCCGCCTGCCCTCCCAGAGCCTCAGCCATCCCTCCTGTAAAATGGGGCTAAGGAGAGAACCTACTTCTAGGGTTCTGTGAATGATTACACAAGAAAAAGCGCCAGGTGCTGGGCCTGGCTGAGGCTGGGGTGCAAAAATGGACCGGGAAGGCTGCGGGAGGAGGGGACGCCTGCACTGCTTCTGGAAGGAGCTGTCTGGACAGCGGTCCTCCAGTGCCTGGAACAAACATCCAAAATCCAGAGAGTTCACAGGGCCAGAGTACAAAGTGGGTATGCGGGAGGGGGGCAAGAGATGGCGCTGCAGAGGTGAGAAGGGCCTCCCAGGGGTCTTACCATCCCAGGGAGTCTCATTCTCCTCTCCCAGGATATCCTCACCCACCCCAACCAGGTATGTCCTCTCTCCTTCCCAGGGGCTTCTTCACTTTCCCGCATCCCCCCTCTCCCCAGGATGTATCAGCCCCTGTCAGGGGCTCTCTCTCTCCCTCCCCACCCAGGAGAGTCCTCACCCTCTTCCCAGGAGTGCTGGAACTGCAGGGGCCAGGGCTGGGGAAATGTGTCACCATCCCCAGTCCCTGACCCACCCACCCTGTCTCTCCACAGGCCCTGGGTGCCAGGCCCTGTGGATGCACAAGGTCCCAGCATCATTGATGGTGAGCCTGGGGGAAGACGCCCACTTCCAATGCCCGCACAATAGCAGCAACAACGCCAACGTCACCTGGTGGCGCGTCCTCCATGGCAACTACACGTGGCCCCCTGAGTTCTTGGGCCCGGGCGAGGACCCCAATGGTACGCTGATCATCCAGAATGTGAACAAGAGCCATGGGGGCATATACGTGTGCCGGGTCCAGGAGGGCAACGAGTCATACCAGCAGTCCTGCGGCACCTACCTCCGCGTGCGCCGTGAGTGGCCCAGCCCTGGCCCCTACTCCCACTGTCCCGCTGGGGACACTCGGTTTATCTTTGAAGTGGGGATAGAGCCAGTACCTTCAATGTGGGTTTCAAACCGGCTTGGACAGAGGGACGGACATTCTCCTCTGCAGAGTGGGGTCTCTGGGGGGTCTGGGGCCTTGCAGGAGGTGGGCGGGGCCAGGAGGCTAGGGAGGGCAAGAGGGGCCAGGGCTCTGAGCCATACTACCTCCTTGCAGAGCCGCCCCCCAGGCCCTTCCTGGACATGGGGGAGGGCACCAAGAACCGAATCATCACAGCCGAGGGGATCATCCTCCTGTTCTGCGCGGTGGTGCCTGGGACGCTGCTGCTGTTCAGGGTGAGCCCCCTCGGACCTCTGAGTCAGCCGGGCGAGGGCCTGGGCCGAGGGACCCCCAATACCCAGGTAGCCCTCTAGAGCCTGAGGTTCCCCATCCAAAACTTGGGAGAATGAAAGCACCCACCATATAGGGGCTGTGGGAGTTAAATGAATGAATATAAAGAAGGGACTTGAACTGGCGCTGAGCCCAGGGGGTGTCTTCAATTTAGTTTCCCCTTCTGGGCTGTCCTCACGTCCACCTCCCCCCAAGAAGAGTCTCATTCTTCTCCCTAAGAGTGTCCTCACTCCCCTCCTGCCCTCACCCAGGAGTGTGGTTACCCTCCAGGTGTAGCCAAGACCAGGGAAGGTGGGGCCTGGTCCTCCCAGAATCTCTGATCTGTACCAGCCTCTCCTTAGGCACTACAGAAAGTGTGACTGTTATTGTTATTATTCATGGAGAATAGTAAGGGAGTGGAGACTCAAGAAGACGCTAGCTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGCCACAAGTTTGAGACCAGCCTGGGCAACACAGCAAGACCCTATCTCTACACACACAAAGTCTTAAAAAAAAATTAGCCAGGCATGGTGGCACACACCTATAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTCAAGGCTGCAGTGAAATATGATGTTGCCACAGCACTTCAGCCTGGGCAACTGAGGGAGAAGAAAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGCGAGAGGGAGGGAGGGAAGGAAGGGAAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGAACACTGGTTGTAGACTCAGAGAGAACTGTTACATAACCAGTATGTGGCCTTGGGGACATCTCTTACCCTTTCTGGAAAAGTACTTCCTGGCATCCAGGAGGGTCTGAAAGATATTCACCTCCCCCTGCTCACTGAGGCACCCACCCCACCCACCCCTACAGAAACGATGGCAGAACGAGAAGCTCGGGTTGGATGCCGGGGATGAATATGAAGATGAAAACCTTTATGAAGTGAGTGAAGGGTGGGGATGGGGTAGGGGCAGTTGTGTTAGGGGTGGGGGTGTTCCCTCTGGGGGTGGCTGGGGGCAGGGACCCCAGGTGTCAGGGTGCTGATGTTCGCTGCCTCATTTCCATCCCAGGGCCTGAACCTGGACGACTGCTCCATGTATGAGGACATCTCCCGGGGCCTCCAGGGCACCTACCAGGATGTGGGCAGCCTCAACATAGGAGATGTCCAGCTGGAGAAGCCGTGACACCCCTACTCCTGCCAGGCTGCCCCCGCCTGCTGTGCACCCAGCTCCAGTGTCTCAGCTCACTTCCCTGGGACATTCTCCTTTCAGCCCTTCTGGGGGCTTCCTTAGTCATATTCCCCCAGTGGGGGGTGGGAGGGTAACCTCACTCTTCTCCAGGCCAGGCCTCCTTGGACTCCCCTGGGGGTGTCCCACTCTTCTTCCCTCTAAACTGCCCCACCTCCTAACCTAATCCCCCCGCCCCGCTGCCTTTCCCAGGCTCCCCTCACCCCAGCGGGTAATGAGCCCTTAATCGCTGCCTCT
TAGCGAGGGCCACTGGAGCCCATCTCCGGGGGGCTGGGCAGGAAGTAGGGTGGGGTTTGGGGTAGGGATCTGGTACCCTGGGACTGCTGCAACTCAAACTAACCAACCCACTGGGAGAAGATGCCTGGGGGTCCAGGAGTCCTCCAAGCTCTGCCTGCCACCATCTTCCTCCTCTTCCTGCTGTCTGCTGTCTACCTGGGTATGTGGCCAAAGGGCAGGAACTGGCGGGAGGTGGGGGAAGCTGTGGAGGCTGCAGAGAGGGCACAGGCAGAGGGAAGGGGGCTCAGGGAAAGGGGAAGAGGAGGCAGAGGATAGGGGACCCAGGGAAGATGCCTATAGAAATCGTATCTGTGCCAAGATGGGCCAAGGTGGGGCTGGAGGGAGCCCAGCGAAGGAGAAGGGGCGTCCACAGTCTCACACAGGGAGGCAGGAGCAAGAGTCACCTCCCCCACCTCCTGTTCCCCACAGGCCAAAATAAGGAACTAAAGTTGCTCTTGACTGAGCACCAGGGCTGGGGGCAGGAAGGGGACTTAGGGGTAGCAGCATTCAGCGTCTGTCAAGGGGAGAAAAAGCTTTCTCTGCCTTAAACCTCAGGTGCCTCTCTCTGTTGGGAGTCCCTTCTCAGCACTGGGGGAATGGGTGTCTCATGGACTCCCCCTCACCTGCTCAAGGACAGCTGGCAGGGGCTGTGGCCACGCTAACCCAGGAGTTCAGAGAAAAAGGTTCCCCACCCAAGGGGACACTGGGAGCAAGGATTGGAGTTCACGTCTGAGTCTTAAGCCCGTGACGATGAGGGTGCTCGGCCCCTCTCCCCATCTCTTCCTCCTTCTCTCTTCCTCACCTCCCTCCTCCACCTACCTCCAGAAGAGGGGACTGGCCATGTGGGAGGCCTGGCTGAGAGCTGGGGCTTCCCAGAGGAGCCCGGATTGGACACTGCAGCCAGCCTGAGCCGCCTCGTCTCACTCAGAGACACCCCCAGTCTCCACCCCGCTCTGAGCCCCTTCAATCACCAGCAGCCCAGCCCAAGGACTGAACTCACCCCTGACCCCTAGGTTGACACATACAACTTACAGAGAATGAGGGCCAGGCACAGGGTCACAGGCCAGGGCAGGCCACAGACTGGCTCCTCAGCCCAGGCAGGGAGAGGCCAGGGAGCCAAGAGTTTGAACCCAGTGCCACTCCTGACTGCCTGGTGATGCTGGCAACCCGCCTGCCCTCCCAGAGCCTCAGCCATCCCTCCTGTAAAATGGGGCTAAGGAGAGAACCTACTTCTAGGGTTCTGTGAATGATTACACAAGAAAAAGCGCCAGGTGCTGGGCCTGGCTGAGGCTGGGGTGCAAAAATGGACCGGGAAGGCTGCGGGAGGAGGGGACGCCTGCACTGCTTCTGGAAGGAGCTGTCTGGACAGCGGTCCTCCAGTGCCTGGAACAAACATCCAAAATCCAGAGAGTTCACAGGGCCAGAGTACAAAGTGGGTATGCGGGAGGGGGGCAAGAGATGGCGCTGCAGAGGTGAGAAGGGCCTCCCAGGGGTCTTACCATCCCAGGGAGTCTCATTCTCCTCTCCCAGGATATCCTCACCCACCCCAACCAGGTATGTCCTCTCTCCTTCCCAGGGGCTTCTTCACTTTCCCGCATCCCCCCTCTCCCCAGGATGTATCAGCCCCTGTCAGGGGCTCTCTCTCTCCCTCCCCACCCAGGAGAGTCCTCACCCTCTTCCCAGGAGTGCTGGAACTGCAGGGGCCAGGGCTGGGGAAATGTGTCACCATCCCCAGTCCCTGACCCACCCACCCTGTCTCTCCACAGGCCCTGGGTGCCAGGCCCTGTGGATGCACAAGGTCCCAGCATCATTGATGGTGAGCCTGGGGGAAGACGCCCACTTCCAATGCCCGCACAATAGCAGCAACAACGCCAACGTCACCTGGTGGCGCGTCCTCCATGGCAACTACACGTGGCCCCCTGAGTTCTTGGGCCCGGGCGAGGACCCCAATGGTACGCTGATCATCCAGAATGTGAACAAGAGCCATGGGGGCATATACGTGTGCCGGGGCCAGGAGGGCAACGAGTCATACCAGCAGTCCTGCGGCACCTACCTCCGCGTGCGCCGTGAGTGGCCCAGCCCTGGCCCCTACTCCCACTGTCCCGCTGGGGACACTCGGTTTATCTTTGAAGTGGGGATAGAGCCAGTACCTTCAATGTGGGTTTCAAACCGGCTTGGACAGAGGGACGGACATTCTCCTCTGCAGAGTGGGGTCTCTGGGGGGTCTGGGGCCTTGCAGGAGGTGGGCGGGGCCAGGAGGCTAGGGAGGGCAAGAGGGGCCAGGGCTCTGAGCCATACTACCTCCTTGCAGAGCCGCCCCCCAGGCCCTTCCTGGACATGGGGGAGGGCACCAAGAACCGAATCATCACAGCCGAGGGGATCATCCTCCTGTTCTGCGCGGTGGTGCCTGGGACGCTGCTGCTGTTCAGGGTGAGCCCCCTCGGACCTCTGAGTCAGCCGGGCGAGGGCCTGGGCCGAGGGACCCCCAATACCCAGGTAGCCCTCTAGAGCCTGAGGTTCCCCATCCAAAACTTGGGAGAATGAAAGCACCCACCATATAGGGGCTGTGGGAGTTAAATGAATGAATATAAAGAAGGGACTTGAACTGGCGCTGAGCCCAGGGGGTGTCTTCAATTTAGTTTCCCCTTCTGGGCTGTCCTCACGTCCACCTCCCCCCAAGAAGAGTCTCATTCTTCTCCCTAAGAGTGTCCTCACTCCCCTCCTGCCCTCACCCAGGAGTGTGGTTACCCTCCAGGTGTAGCCAAGACCAGGGAAGGTGGGGCCTGGTCCTCCCAGAATCTCTGATCTGTACCAGCCTCTCCTTAGGCACTACAGAAAGTGTGACTGTTATTGTTATTATTCATGGAGAATAGTAAGGGAGTGGAGACTCAAGAAGACGCTAGCTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGCCACAAGTTTGAGACCAGCCTGGGCAACACAGCAAGACCCTATCTCTACACACACAAAGTCTTAAAAAAAAATTAGCCAGGCATGGTGGCACACACCTATAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTCAAGGCTGCAGTGAAATATGATGTTGCCACAGCACTTCAGCCTGGGCAACTGAGGGAGAAGAAAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGCGAGAGGGAGGGAGGGAAGGAAGGGAAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGAACACTGGTTGTAGACTCAGAGAGAACTGTTACATAACCAGTATGTGGCCTTGGGGACATCTCTTACCCTTTCTGGAAAAGTACTTCCTGGCATCCAGGAGGGTCTGAAAGATATTCACCTCCCCCTGCTCACTGAGGCACCCACCCCACCCACCCCTACAGAAACGATGGCAGAACGAGAAGCTCGGGTTGGATGCCGGGGATGAATATGAAGATGAAAACCTTTATGAAGTGAGTGAAGGGTGGGGATGGGGTAGGGGCAGTTGTGTTAGGGGTGGGGGTGTTCCCTCTGGGGGTGGCTGGGGGCAGGGACCCCAGGTGTCAGGGTGCTGATGTTCGCTGCCTCATTTCCATCCCAGGGCCTGAACCTGGACGACTGCTCCATGTATGAGGACATCTCCCGGGGCCTCCAGGGCACCTACCAGGATGTGGGCAGCCTCAACATAGGAGATGTCCAGCTGGAGAAGCCGTGACACCCCTACTCCTGCCAGGCTGCCCCCGCCTGCTGTGCACCCAGCTCCAGTGTCTCAGCTCACTTCCCTGGGACATTCTCCTTTCAGCCCTTCTGGGGGCTTCCTTAGTCATATTCCCCCAGTGGGGGGTGGGAGGGTAACCTCACTCTTCTCCAGGCCAGGCCTCCTTGGACTCCCCTGGGGGTGTCCCACTCTTCTTCCCTCTAAACTGCCCCACCTCCTAACCTAATCCCCCCGCCCCGCTGCCTTTCCCAGGCTCCCCTCACCCCAGCGGGTAATGAGCCCTTAATCGCTGCCTCT
Task1_train_27196
This sequence variant lies in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Alternating hemiplegia of childhood 2
CTCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCGCTTGGCCTGCAGATGCAATTTTTAAAATCATTGAGCTATACCCTTAAGATGCGTGCACTTCACTGTATGAAAGTTTATCTCAATAAAAAGAGAGAATAGCGTAGTGACCTAGAACTTTGGACAGCCTTGGTTCAAATCCCAGATTTGTCTCTTCTTAGCTGTGTGCAAATCACTTCTTCTCTCTGTGCACATTTAATGCACACTTAGAAGTGGGCAGAGCACATAGCAGGCACTCAGTGAATCACTGTCATCACCATCATCATCGTCATTGTGTCCCCTGGGTCCTACTCCTATAGGAGAGGCTCCCAGTCACCATCCCACGTCTGCTTCCCTCCCTCTCCCCTGTTCTGATTCCACAATGCCATCGCCTGGTGAATTCAAGCTGCTCTGACTTTCGTGGAGTTGAAAACTCCGTGATTAGATGGCTCTGAGATTCCGTGACTTCCAAGCCAGTGCCAGGCTAAGTTCCTGCAGTTTCGAGAGTCGCCTGGCAGCGCGCCCCAACAGAGGGGATGCTGTCCCAGCCGCAGTCCCCGTCTGGAAAGCAGGCACAACACACACACCGCTTCTCTCTCCCCACTGATATATTTGATAATTGTCCAGAACCAGAGATGGCATCAGCCGGGGGGCTGAAGGGGAGTAAAAAAGAGCCCAGGGAGGTGGCTGGGGCGGGAGGAATGGATAGAGGGGTGAGGAGAGGGAGAGAAACTGACACAGAAAAGAGAGAGGAGAGAGGTTTGGGGCAGGGGAGAGAAGCCAGCCAGAGTGGGGGCGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGGAGAGATGGGAAGAGAGAGAAGAGTGGGAACCAGGTGGCAGAGCCATCCAGCAGGGCGAGGGGAGCCTGGGACCAGCTGCCTGAGACCCTGCTGCCCCCCGCCCCCCTCGGCTGCCTTGCCGAGCTCCCTCACCCCCTGGGTTCCTGCGCAGGATGAGTTTGCGGATTTCGTCGTAGACGAAGATGAGGAAACTGTAGGGGAAGGCACAGAACCACCAGCTGGGCCTGCAGAGGGGAGAGCAGGAGGGCTTGAGTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCACAGTGCAGACACCCAGAGACAGCAGCACAGACACAGAGACAGAGAGGCAGAGACATAGGGAGAGACAGAGATGGGGAGACATGCCCCGACAGAGAGAGACAAAGATAGAGGCAGAGCGATGGTGACACAGAAAGAGACAAAAGACAGGGACAGACACAGAGACAGGGACAGACACAGAGACAGACAGGGACAGACAGAGAGACAGACACAGGGACAGACACAGAGACAGGGACAGAAACAGACACAGAGACAGGGACAGACACAGAGAGGCACTGGTATAAAAAGAAAAGGCCAGGGGCACCTCCACCACACACACAGAGGCTGAGAGAGAATCTAGGACACACAGGACCCCTTGAGAGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCTCCGGGTCTTGCAGATGATCAGATCGGCCCACTGGACGACAACGATGCTCACAAAGAAGGCCGTGTGGCAGGTGAACTCCACCACCTTCCTCTGCTCGTATGTCTGCAGGAGCGGTGACCAGGGCACGGGACGTCAGTTAGTGGCACTGCAGCCCTAGCCGCCACCCCGACGTTCCGGTGCTCTTTGCCCCGCCCCATCCTGCATGGGGTCCTCAGGGCCTCAGGTGTGTCTTCCTTCTGCGGGCTCATAGTCCCGAGGGAGGAGTCAGGAGACGTACAAGGAAGAAGAAAGGTTAATGGTGATCTCACCATCCACCAGGGGCCAGGGAGGAGGATAAGGACCCTGTGGGCCTCCCAAGGAGGACAGACAGCAACTGGGCTTTGAAGGGACAGACAGAGGTGGGGAAGAAGGCCTGGCAGGGCAGAGAGCTCCAGCAGTGGGACACAAGGCTCCAGATGGGCTGGGCCAAGGGCATCCAGGAAGCCCCAGGTGCCCAGCAAAGGCCTTGATGCTGCCATGGGAGACTGAGGGGGCCATCGTAGGAAGTGGCCATGCATGGCTGGAACAGCTCACCCCGGGGATCTTACGGTGGGCAGAGACACAGCACCCTGCCCTACTCACCCACTGCTGCCCGTAACTGTCTTCCAGGTCATTGACGGTGCGGTCATCCCAGTTCAGCCGGATGCCCACCAGGTTGCCGGGCAAGAAGCCATTTTCTGCCAGGATCACAAAGTAAGAGAAGAAGCCACCGAGAGCCTGGATCATTCCTGGAAGGAGGAGAGAGGAAGCCGAGGAGAGGCTCAGATTGGGGCCAGCAGCCAACCCAGGGCACCTCAGAGGGCCCGGAGGCCTCCTTGGAGAGGGGAGTATGCCCTCCTGGCCCTGTTATCTGGACATTGGTTCCCAGAGGGTGACCTGAGGTCTCACTTGGTGGTGAGGCCCTGAGATGGGTGGGCCACCTGGGACAGGGGCTTTGG
CTCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCGCTTGGCCTGCAGATGCAATTTTTAAAATCATTGAGCTATACCCTTAAGATGCGTGCACTTCACTGTATGAAAGTTTATCTCAATAAAAAGAGAGAATAGCGTAGTGACCTAGAACTTTGGACAGCCTTGGTTCAAATCCCAGATTTGTCTCTTCTTAGCTGTGTGCAAATCACTTCTTCTCTCTGTGCACATTTAATGCACACTTAGAAGTGGGCAGAGCACATAGCAGGCACTCAGTGAATCACTGTCATCACCATCATCATCGTCATTGTGTCCCCTGGGTCCTACTCCTATAGGAGAGGCTCCCAGTCACCATCCCACGTCTGCTTCCCTCCCTCTCCCCTGTTCTGATTCCACAATGCCATCGCCTGGTGAATTCAAGCTGCTCTGACTTTCGTGGAGTTGAAAACTCCGTGATTAGATGGCTCTGAGATTCCGTGACTTCCAAGCCAGTGCCAGGCTAAGTTCCTGCAGTTTCGAGAGTCGCCTGGCAGCGCGCCCCAACAGAGGGGATGCTGTCCCAGCCGCAGTCCCCGTCTGGAAAGCAGGCACAACACACACACCGCTTCTCTCTCCCCACTGATATATTTGATAATTGTCCAGAACCAGAGATGGCATCAGCCGGGGGGCTGAAGGGGAGTAAAAAAGAGCCCAGGGAGGTGGCTGGGGCGGGAGGAATGGATAGAGGGGTGAGGAGAGGGAGAGAAACTGACACAGAAAAGAGAGAGGAGAGAGGTTTGGGGCAGGGGAGAGAAGCCAGCCAGAGTGGGGGCGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGGAGAGATGGGAAGAGAGAGAAGAGTGGGAACCAGGTGGCAGAGCCATCCAGCAGGGCGAGGGGAGCCTGGGACCAGCTGCCTGAGACCCTGCTGCCCCCCGCCCCCCTCGGCTGCCTTGCCGAGCTCCCTCACCCCCTGGGTTCCTGCGCAGGATGAGTTTGCGGATTTCGTCGTAGACGAAGATGAGGAAACTGTAGGGGAAGGCACAGAACCACCAGCTGGGCCTGCAGAGGGGAGAGCAGGAGGGCTTGAGTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCTCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCACAGTGCAGACACCCAGAGACAGCAGCACAGACACAGAGACAGAGAGGCAGAGACATAGGGAGAGACAGAGATGGGGAGACATGCCCCGACAGAGAGAGACAAAGATAGAGGCAGAGCGATGGTGACACAGAAAGAGACAAAAGACAGGGACAGACACAGAGACAGGGACAGACACAGAGACAGACAGGGACAGACAGAGAGACAGACACAGGGACAGACACAGAGACAGGGACAGAAACAGACACAGAGACAGGGACAGACACAGAGAGGCACTGGTATAAAAAGAAAAGGCCAGGGGCACCTCCACCACACACACAGAGGCTGAGAGAGAATCTAGGACACACAGGACCCCTTGAGAGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCTCCGGGTCTTGCAGATGATCAGATCGGCCCACTGGACGACAACGATGCTCACAAAGAAGGCCGTGTGGCAGGTGAACTCCACCACCTTCCTCTGCTCGTATGTCTGCAGGAGCGGTGACCAGGGCACGGGACGTCAGTTAGTGGCACTGCAGCCCTAGCCGCCACCCCGACGTTCCGGTGCTCTTTGCCCCGCCCCATCCTGCATGGGGTCCTCAGGGCCTCAGGTGTGTCTTCCTTCTGCGGGCTCATAGTCCCGAGGGAGGAGTCAGGAGACGTACAAGGAAGAAGAAAGGTTAATGGTGATCTCACCATCCACCAGGGGCCAGGGAGGAGGATAAGGACCCTGTGGGCCTCCCAAGGAGGACAGACAGCAACTGGGCTTTGAAGGGACAGACAGAGGTGGGGAAGAAGGCCTGGCAGGGCAGAGAGCTCCAGCAGTGGGACACAAGGCTCCAGATGGGCTGGGCCAAGGGCATCCAGGAAGCCCCAGGTGCCCAGCAAAGGCCTTGATGCTGCCATGGGAGACTGAGGGGGCCATCGTAGGAAGTGGCCATGCATGGCTGGAACAGCTCACCCCGGGGATCTTACGGTGGGCAGAGACACAGCACCCTGCCCTACTCACCCACTGCTGCCCGTAACTGTCTTCCAGGTCATTGACGGTGCGGTCATCCCAGTTCAGCCGGATGCCCACCAGGTTGCCGGGCAAGAAGCCATTTTCTGCCAGGATCACAAAGTAAGAGAAGAAGCCACCGAGAGCCTGGATCATTCCTGGAAGGAGGAGAGAGGAAGCCGAGGAGAGGCTCAGATTGGGGCCAGCAGCCAACCCAGGGCACCTCAGAGGGCCCGGAGGCCTCCTTGGAGAGGGGAGTATGCCCTCCTGGCCCTGTTATCTGGACATTGGTTCCCAGAGGGTGACCTGAGGTCTCACTTGGTGGTGAGGCCCTGAGATGGGTGGGCCACCTGGGACAGGGGCTTTGG
Task1_train_27197
A variant found in Chromosome 19 affects ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Dystonia 12
TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCGCTTGGCCTGCAGATGCAATTTTTAAAATCATTGAGCTATACCCTTAAGATGCGTGCACTTCACTGTATGAAAGTTTATCTCAATAAAAAGAGAGAATAGCGTAGTGACCTAGAACTTTGGACAGCCTTGGTTCAAATCCCAGATTTGTCTCTTCTTAGCTGTGTGCAAATCACTTCTTCTCTCTGTGCACATTTAATGCACACTTAGAAGTGGGCAGAGCACATAGCAGGCACTCAGTGAATCACTGTCATCACCATCATCATCGTCATTGTGTCCCCTGGGTCCTACTCCTATAGGAGAGGCTCCCAGTCACCATCCCACGTCTGCTTCCCTCCCTCTCCCCTGTTCTGATTCCACAATGCCATCGCCTGGTGAATTCAAGCTGCTCTGACTTTCGTGGAGTTGAAAACTCCGTGATTAGATGGCTCTGAGATTCCGTGACTTCCAAGCCAGTGCCAGGCTAAGTTCCTGCAGTTTCGAGAGTCGCCTGGCAGCGCGCCCCAACAGAGGGGATGCTGTCCCAGCCGCAGTCCCCGTCTGGAAAGCAGGCACAACACACACACCGCTTCTCTCTCCCCACTGATATATTTGATAATTGTCCAGAACCAGAGATGGCATCAGCCGGGGGGCTGAAGGGGAGTAAAAAAGAGCCCAGGGAGGTGGCTGGGGCGGGAGGAATGGATAGAGGGGTGAGGAGAGGGAGAGAAACTGACACAGAAAAGAGAGAGGAGAGAGGTTTGGGGCAGGGGAGAGAAGCCAGCCAGAGTGGGGGCGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGGAGAGATGGGAAGAGAGAGAAGAGTGGGAACCAGGTGGCAGAGCCATCCAGCAGGGCGAGGGGAGCCTGGGACCAGCTGCCTGAGACCCTGCTGCCCCCCGCCCCCCTCGGCTGCCTTGCCGAGCTCCCTCACCCCCTGGGTTCCTGCGCAGGATGAGTTTGCGGATTTCGTCGTAGACGAAGATGAGGAAACTGTAGGGGAAGGCACAGAACCACCAGCTGGGCCTGCAGAGGGGAGAGCAGGAGGGCTTGAGTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCACAGTGCAGACACCCAGAGACAGCAGCACAGACACAGAGACAGAGAGGCAGAGACATAGGGAGAGACAGAGATGGGGAGACATGCCCCGACAGAGAGAGACAAAGATAGAGGCAGAGCGATGGTGACACAGAAAGAGACAAAAGACAGGGACAGACACAGAGACAGGGACAGACACAGAGACAGACAGGGACAGACAGAGAGACAGACACAGGGACAGACACAGAGACAGGGACAGAAACAGACACAGAGACAGGGACAGACACAGAGAGGCACTGGTATAAAAAGAAAAGGCCAGGGGCACCTCCACCACACACACAGAGGCTGAGAGAGAATCTAGGACACACAGGACCCCTTGAGAGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCTCCGGGTCTTGCAGATGATCAGATCGGCCCACTGGACGACAACGATGCTCACAAAGAAGGCCGTGTGGCAGGTGAACTCCACCACCTTCCTCTGCTCGTATGTCTGCAGGAGCGGTGACCAGGGCACGGGACGTCAGTTAGTGGCACTGCAGCCCTAGCCGCCACCCCGACGTTCCGGTGCTCTTTGCCCCGCCCCATCCTGCATGGGGTCCTCAGGGCCTCAGGTGTGTCTTCCTTCTGCGGGCTCATAGTCCCGAGGGAGGAGTCAGGAGACGTACAAGGAAGAAGAAAGGTTAATGGTGATCTCACCATCCACCAGGGGCCAGGGAGGAGGATAAGGACCCTGTGGGCCTCCCAAGGAGGACAGACAGCAACTGGGCTTTGAAGGGACAGACAGAGGTGGGGAAGAAGGCCTGGCAGGGCAGAGAGCTCCAGCAGTGGGACACAAGGCTCCAGATGGGCTGGGCCAAGGGCATCCAGGAAGCCCCAGGTGCCCAGCAAAGGCCTTGATGCTGCCATGGGAGACTGAGGGGGCCATCGTAGGAAGTGGCCATGCATGGCTGGAACAGCTCACCCCGGGGATCTTACGGTGGGCAGAGACACAGCACCCTGCCCTACTCACCCACTGCTGCCCGTAACTGTCTTCCAGGTCATTGACGGTGCGGTCATCCCAGTTCAGCCGGATGCCCACCAGGTTGCCGGGCAAGAAGCCATTTTCTGCCAGGATCACAAAGTAAGAGAAGAAGCCACCGAGAGCCTGGATCATTCCTGGAAGGAGGAGAGAGGAAGCCGAGGAGAGGCTCAGATTGGGGCCAGCAGCCAACCCAGGGCACCTCAGAGGGCCCGGAGGCCTCCTTGGAGAGGGGAGTATGCCCTCCTGGCCCTGTTATCTGGACATTGGTTCCCAGAGGGTGACCTGAGGTCTCACTTGGTGGTGAGGCCCTGAGATGGGTGGGCCACCTGGGACAGGGGCTTTGGA
TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCGCTTGGCCTGCAGATGCAATTTTTAAAATCATTGAGCTATACCCTTAAGATGCGTGCACTTCACTGTATGAAAGTTTATCTCAATAAAAAGAGAGAATAGCGTAGTGACCTAGAACTTTGGACAGCCTTGGTTCAAATCCCAGATTTGTCTCTTCTTAGCTGTGTGCAAATCACTTCTTCTCTCTGTGCACATTTAATGCACACTTAGAAGTGGGCAGAGCACATAGCAGGCACTCAGTGAATCACTGTCATCACCATCATCATCGTCATTGTGTCCCCTGGGTCCTACTCCTATAGGAGAGGCTCCCAGTCACCATCCCACGTCTGCTTCCCTCCCTCTCCCCTGTTCTGATTCCACAATGCCATCGCCTGGTGAATTCAAGCTGCTCTGACTTTCGTGGAGTTGAAAACTCCGTGATTAGATGGCTCTGAGATTCCGTGACTTCCAAGCCAGTGCCAGGCTAAGTTCCTGCAGTTTCGAGAGTCGCCTGGCAGCGCGCCCCAACAGAGGGGATGCTGTCCCAGCCGCAGTCCCCGTCTGGAAAGCAGGCACAACACACACACCGCTTCTCTCTCCCCACTGATATATTTGATAATTGTCCAGAACCAGAGATGGCATCAGCCGGGGGGCTGAAGGGGAGTAAAAAAGAGCCCAGGGAGGTGGCTGGGGCGGGAGGAATGGATAGAGGGGTGAGGAGAGGGAGAGAAACTGACACAGAAAAGAGAGAGGAGAGAGGTTTGGGGCAGGGGAGAGAAGCCAGCCAGAGTGGGGGCGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGGAGAGATGGGAAGAGAGAGAAGAGTGGGAACCAGGTGGCAGAGCCATCCAGCAGGGCGAGGGGAGCCTGGGACCAGCTGCCTGAGACCCTGCTGCCCCCCGCCCCCCTCGGCTGCCTTGCCGAGCTCCCTCACCCCCTGGGTTCCTGCGCAGGATGAGTTTGCGGATTTCGTCGTAGACGAAGATGAGGAAACTGTAGGGGAAGGCACAGAACCACCAGCTGGGCCTGCAGAGGGGAGAGCAGGAGGGCTTGAGTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCGGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCACAGTGCAGACACCCAGAGACAGCAGCACAGACACAGAGACAGAGAGGCAGAGACATAGGGAGAGACAGAGATGGGGAGACATGCCCCGACAGAGAGAGACAAAGATAGAGGCAGAGCGATGGTGACACAGAAAGAGACAAAAGACAGGGACAGACACAGAGACAGGGACAGACACAGAGACAGACAGGGACAGACAGAGAGACAGACACAGGGACAGACACAGAGACAGGGACAGAAACAGACACAGAGACAGGGACAGACACAGAGAGGCACTGGTATAAAAAGAAAAGGCCAGGGGCACCTCCACCACACACACAGAGGCTGAGAGAGAATCTAGGACACACAGGACCCCTTGAGAGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCTCCGGGTCTTGCAGATGATCAGATCGGCCCACTGGACGACAACGATGCTCACAAAGAAGGCCGTGTGGCAGGTGAACTCCACCACCTTCCTCTGCTCGTATGTCTGCAGGAGCGGTGACCAGGGCACGGGACGTCAGTTAGTGGCACTGCAGCCCTAGCCGCCACCCCGACGTTCCGGTGCTCTTTGCCCCGCCCCATCCTGCATGGGGTCCTCAGGGCCTCAGGTGTGTCTTCCTTCTGCGGGCTCATAGTCCCGAGGGAGGAGTCAGGAGACGTACAAGGAAGAAGAAAGGTTAATGGTGATCTCACCATCCACCAGGGGCCAGGGAGGAGGATAAGGACCCTGTGGGCCTCCCAAGGAGGACAGACAGCAACTGGGCTTTGAAGGGACAGACAGAGGTGGGGAAGAAGGCCTGGCAGGGCAGAGAGCTCCAGCAGTGGGACACAAGGCTCCAGATGGGCTGGGCCAAGGGCATCCAGGAAGCCCCAGGTGCCCAGCAAAGGCCTTGATGCTGCCATGGGAGACTGAGGGGGCCATCGTAGGAAGTGGCCATGCATGGCTGGAACAGCTCACCCCGGGGATCTTACGGTGGGCAGAGACACAGCACCCTGCCCTACTCACCCACTGCTGCCCGTAACTGTCTTCCAGGTCATTGACGGTGCGGTCATCCCAGTTCAGCCGGATGCCCACCAGGTTGCCGGGCAAGAAGCCATTTTCTGCCAGGATCACAAAGTAAGAGAAGAAGCCACCGAGAGCCTGGATCATTCCTGGAAGGAGGAGAGAGGAAGCCGAGGAGAGGCTCAGATTGGGGCCAGCAGCCAACCCAGGGCACCTCAGAGGGCCCGGAGGCCTCCTTGGAGAGGGGAGTATGCCCTCCTGGCCCTGTTATCTGGACATTGGTTCCCAGAGGGTGACCTGAGGTCTCACTTGGTGGTGAGGCCCTGAGATGGGTGGGCCACCTGGGACAGGGGCTTTGGA
Task1_train_27198
Located on Chromosome 19, this mutation impacts ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Dystonia 12
TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCGCTTGGCCTGCAGATGCAATTTTTAAAATCATTGAGCTATACCCTTAAGATGCGTGCACTTCACTGTATGAAAGTTTATCTCAATAAAAAGAGAGAATAGCGTAGTGACCTAGAACTTTGGACAGCCTTGGTTCAAATCCCAGATTTGTCTCTTCTTAGCTGTGTGCAAATCACTTCTTCTCTCTGTGCACATTTAATGCACACTTAGAAGTGGGCAGAGCACATAGCAGGCACTCAGTGAATCACTGTCATCACCATCATCATCGTCATTGTGTCCCCTGGGTCCTACTCCTATAGGAGAGGCTCCCAGTCACCATCCCACGTCTGCTTCCCTCCCTCTCCCCTGTTCTGATTCCACAATGCCATCGCCTGGTGAATTCAAGCTGCTCTGACTTTCGTGGAGTTGAAAACTCCGTGATTAGATGGCTCTGAGATTCCGTGACTTCCAAGCCAGTGCCAGGCTAAGTTCCTGCAGTTTCGAGAGTCGCCTGGCAGCGCGCCCCAACAGAGGGGATGCTGTCCCAGCCGCAGTCCCCGTCTGGAAAGCAGGCACAACACACACACCGCTTCTCTCTCCCCACTGATATATTTGATAATTGTCCAGAACCAGAGATGGCATCAGCCGGGGGGCTGAAGGGGAGTAAAAAAGAGCCCAGGGAGGTGGCTGGGGCGGGAGGAATGGATAGAGGGGTGAGGAGAGGGAGAGAAACTGACACAGAAAAGAGAGAGGAGAGAGGTTTGGGGCAGGGGAGAGAAGCCAGCCAGAGTGGGGGCGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGGAGAGATGGGAAGAGAGAGAAGAGTGGGAACCAGGTGGCAGAGCCATCCAGCAGGGCGAGGGGAGCCTGGGACCAGCTGCCTGAGACCCTGCTGCCCCCCGCCCCCCTCGGCTGCCTTGCCGAGCTCCCTCACCCCCTGGGTTCCTGCGCAGGATGAGTTTGCGGATTTCGTCGTAGACGAAGATGAGGAAACTGTAGGGGAAGGCACAGAACCACCAGCTGGGCCTGCAGAGGGGAGAGCAGGAGGGCTTGAGTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCACAGTGCAGACACCCAGAGACAGCAGCACAGACACAGAGACAGAGAGGCAGAGACATAGGGAGAGACAGAGATGGGGAGACATGCCCCGACAGAGAGAGACAAAGATAGAGGCAGAGCGATGGTGACACAGAAAGAGACAAAAGACAGGGACAGACACAGAGACAGGGACAGACACAGAGACAGACAGGGACAGACAGAGAGACAGACACAGGGACAGACACAGAGACAGGGACAGAAACAGACACAGAGACAGGGACAGACACAGAGAGGCACTGGTATAAAAAGAAAAGGCCAGGGGCACCTCCACCACACACACAGAGGCTGAGAGAGAATCTAGGACACACAGGACCCCTTGAGAGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCTCCGGGTCTTGCAGATGATCAGATCGGCCCACTGGACGACAACGATGCTCACAAAGAAGGCCGTGTGGCAGGTGAACTCCACCACCTTCCTCTGCTCGTATGTCTGCAGGAGCGGTGACCAGGGCACGGGACGTCAGTTAGTGGCACTGCAGCCCTAGCCGCCACCCCGACGTTCCGGTGCTCTTTGCCCCGCCCCATCCTGCATGGGGTCCTCAGGGCCTCAGGTGTGTCTTCCTTCTGCGGGCTCATAGTCCCGAGGGAGGAGTCAGGAGACGTACAAGGAAGAAGAAAGGTTAATGGTGATCTCACCATCCACCAGGGGCCAGGGAGGAGGATAAGGACCCTGTGGGCCTCCCAAGGAGGACAGACAGCAACTGGGCTTTGAAGGGACAGACAGAGGTGGGGAAGAAGGCCTGGCAGGGCAGAGAGCTCCAGCAGTGGGACACAAGGCTCCAGATGGGCTGGGCCAAGGGCATCCAGGAAGCCCCAGGTGCCCAGCAAAGGCCTTGATGCTGCCATGGGAGACTGAGGGGGCCATCGTAGGAAGTGGCCATGCATGGCTGGAACAGCTCACCCCGGGGATCTTACGGTGGGCAGAGACACAGCACCCTGCCCTACTCACCCACTGCTGCCCGTAACTGTCTTCCAGGTCATTGACGGTGCGGTCATCCCAGTTCAGCCGGATGCCCACCAGGTTGCCGGGCAAGAAGCCATTTTCTGCCAGGATCACAAAGTAAGAGAAGAAGCCACCGAGAGCCTGGATCATTCCTGGAAGGAGGAGAGAGGAAGCCGAGGAGAGGCTCAGATTGGGGCCAGCAGCCAACCCAGGGCACCTCAGAGGGCCCGGAGGCCTCCTTGGAGAGGGGAGTATGCCCTCCTGGCCCTGTTATCTGGACATTGGTTCCCAGAGGGTGACCTGAGGTCTCACTTGGTGGTGAGGCCCTGAGATGGGTGGGCCACCTGGGACAGGGGCTTTGGA
TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCGCTTGGCCTGCAGATGCAATTTTTAAAATCATTGAGCTATACCCTTAAGATGCGTGCACTTCACTGTATGAAAGTTTATCTCAATAAAAAGAGAGAATAGCGTAGTGACCTAGAACTTTGGACAGCCTTGGTTCAAATCCCAGATTTGTCTCTTCTTAGCTGTGTGCAAATCACTTCTTCTCTCTGTGCACATTTAATGCACACTTAGAAGTGGGCAGAGCACATAGCAGGCACTCAGTGAATCACTGTCATCACCATCATCATCGTCATTGTGTCCCCTGGGTCCTACTCCTATAGGAGAGGCTCCCAGTCACCATCCCACGTCTGCTTCCCTCCCTCTCCCCTGTTCTGATTCCACAATGCCATCGCCTGGTGAATTCAAGCTGCTCTGACTTTCGTGGAGTTGAAAACTCCGTGATTAGATGGCTCTGAGATTCCGTGACTTCCAAGCCAGTGCCAGGCTAAGTTCCTGCAGTTTCGAGAGTCGCCTGGCAGCGCGCCCCAACAGAGGGGATGCTGTCCCAGCCGCAGTCCCCGTCTGGAAAGCAGGCACAACACACACACCGCTTCTCTCTCCCCACTGATATATTTGATAATTGTCCAGAACCAGAGATGGCATCAGCCGGGGGGCTGAAGGGGAGTAAAAAAGAGCCCAGGGAGGTGGCTGGGGCGGGAGGAATGGATAGAGGGGTGAGGAGAGGGAGAGAAACTGACACAGAAAAGAGAGAGGAGAGAGGTTTGGGGCAGGGGAGAGAAGCCAGCCAGAGTGGGGGCGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGGAGAGATGGGAAGAGAGAGAAGAGTGGGAACCAGGTGGCAGAGCCATCCAGCAGGGCGAGGGGAGCCTGGGACCAGCTGCCTGAGACCCTGCTGCCCCCCGCCCCCCTCGGCTGCCTTGCCGAGCTCCCTCACCCCCTGGGTTCCTGCGCAGGATGAGTTTGCGGATTTCGTCGTAGACGAAGATGAGGAAACTGTAGGGGAAGGCACAGAACCACCAGCTGGGCCTGCAGAGGGGAGAGCAGGAGGGCTTGAGTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCTGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCACAGTGCAGACACCCAGAGACAGCAGCACAGACACAGAGACAGAGAGGCAGAGACATAGGGAGAGACAGAGATGGGGAGACATGCCCCGACAGAGAGAGACAAAGATAGAGGCAGAGCGATGGTGACACAGAAAGAGACAAAAGACAGGGACAGACACAGAGACAGGGACAGACACAGAGACAGACAGGGACAGACAGAGAGACAGACACAGGGACAGACACAGAGACAGGGACAGAAACAGACACAGAGACAGGGACAGACACAGAGAGGCACTGGTATAAAAAGAAAAGGCCAGGGGCACCTCCACCACACACACAGAGGCTGAGAGAGAATCTAGGACACACAGGACCCCTTGAGAGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCTCCGGGTCTTGCAGATGATCAGATCGGCCCACTGGACGACAACGATGCTCACAAAGAAGGCCGTGTGGCAGGTGAACTCCACCACCTTCCTCTGCTCGTATGTCTGCAGGAGCGGTGACCAGGGCACGGGACGTCAGTTAGTGGCACTGCAGCCCTAGCCGCCACCCCGACGTTCCGGTGCTCTTTGCCCCGCCCCATCCTGCATGGGGTCCTCAGGGCCTCAGGTGTGTCTTCCTTCTGCGGGCTCATAGTCCCGAGGGAGGAGTCAGGAGACGTACAAGGAAGAAGAAAGGTTAATGGTGATCTCACCATCCACCAGGGGCCAGGGAGGAGGATAAGGACCCTGTGGGCCTCCCAAGGAGGACAGACAGCAACTGGGCTTTGAAGGGACAGACAGAGGTGGGGAAGAAGGCCTGGCAGGGCAGAGAGCTCCAGCAGTGGGACACAAGGCTCCAGATGGGCTGGGCCAAGGGCATCCAGGAAGCCCCAGGTGCCCAGCAAAGGCCTTGATGCTGCCATGGGAGACTGAGGGGGCCATCGTAGGAAGTGGCCATGCATGGCTGGAACAGCTCACCCCGGGGATCTTACGGTGGGCAGAGACACAGCACCCTGCCCTACTCACCCACTGCTGCCCGTAACTGTCTTCCAGGTCATTGACGGTGCGGTCATCCCAGTTCAGCCGGATGCCCACCAGGTTGCCGGGCAAGAAGCCATTTTCTGCCAGGATCACAAAGTAAGAGAAGAAGCCACCGAGAGCCTGGATCATTCCTGGAAGGAGGAGAGAGGAAGCCGAGGAGAGGCTCAGATTGGGGCCAGCAGCCAACCCAGGGCACCTCAGAGGGCCCGGAGGCCTCCTTGGAGAGGGGAGTATGCCCTCCTGGCCCTGTTATCTGGACATTGGTTCCCAGAGGGTGACCTGAGGTCTCACTTGGTGGTGAGGCCCTGAGATGGGTGGGCCACCTGGGACAGGGGCTTTGGA
Task1_train_27199
This mutation is located in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Alternating hemiplegia of childhood 2
TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCGCTTGGCCTGCAGATGCAATTTTTAAAATCATTGAGCTATACCCTTAAGATGCGTGCACTTCACTGTATGAAAGTTTATCTCAATAAAAAGAGAGAATAGCGTAGTGACCTAGAACTTTGGACAGCCTTGGTTCAAATCCCAGATTTGTCTCTTCTTAGCTGTGTGCAAATCACTTCTTCTCTCTGTGCACATTTAATGCACACTTAGAAGTGGGCAGAGCACATAGCAGGCACTCAGTGAATCACTGTCATCACCATCATCATCGTCATTGTGTCCCCTGGGTCCTACTCCTATAGGAGAGGCTCCCAGTCACCATCCCACGTCTGCTTCCCTCCCTCTCCCCTGTTCTGATTCCACAATGCCATCGCCTGGTGAATTCAAGCTGCTCTGACTTTCGTGGAGTTGAAAACTCCGTGATTAGATGGCTCTGAGATTCCGTGACTTCCAAGCCAGTGCCAGGCTAAGTTCCTGCAGTTTCGAGAGTCGCCTGGCAGCGCGCCCCAACAGAGGGGATGCTGTCCCAGCCGCAGTCCCCGTCTGGAAAGCAGGCACAACACACACACCGCTTCTCTCTCCCCACTGATATATTTGATAATTGTCCAGAACCAGAGATGGCATCAGCCGGGGGGCTGAAGGGGAGTAAAAAAGAGCCCAGGGAGGTGGCTGGGGCGGGAGGAATGGATAGAGGGGTGAGGAGAGGGAGAGAAACTGACACAGAAAAGAGAGAGGAGAGAGGTTTGGGGCAGGGGAGAGAAGCCAGCCAGAGTGGGGGCGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGGAGAGATGGGAAGAGAGAGAAGAGTGGGAACCAGGTGGCAGAGCCATCCAGCAGGGCGAGGGGAGCCTGGGACCAGCTGCCTGAGACCCTGCTGCCCCCCGCCCCCCTCGGCTGCCTTGCCGAGCTCCCTCACCCCCTGGGTTCCTGCGCAGGATGAGTTTGCGGATTTCGTCGTAGACGAAGATGAGGAAACTGTAGGGGAAGGCACAGAACCACCAGCTGGGCCTGCAGAGGGGAGAGCAGGAGGGCTTGAGTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCACAGTGCAGACACCCAGAGACAGCAGCACAGACACAGAGACAGAGAGGCAGAGACATAGGGAGAGACAGAGATGGGGAGACATGCCCCGACAGAGAGAGACAAAGATAGAGGCAGAGCGATGGTGACACAGAAAGAGACAAAAGACAGGGACAGACACAGAGACAGGGACAGACACAGAGACAGACAGGGACAGACAGAGAGACAGACACAGGGACAGACACAGAGACAGGGACAGAAACAGACACAGAGACAGGGACAGACACAGAGAGGCACTGGTATAAAAAGAAAAGGCCAGGGGCACCTCCACCACACACACAGAGGCTGAGAGAGAATCTAGGACACACAGGACCCCTTGAGAGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCTCCGGGTCTTGCAGATGATCAGATCGGCCCACTGGACGACAACGATGCTCACAAAGAAGGCCGTGTGGCAGGTGAACTCCACCACCTTCCTCTGCTCGTATGTCTGCAGGAGCGGTGACCAGGGCACGGGACGTCAGTTAGTGGCACTGCAGCCCTAGCCGCCACCCCGACGTTCCGGTGCTCTTTGCCCCGCCCCATCCTGCATGGGGTCCTCAGGGCCTCAGGTGTGTCTTCCTTCTGCGGGCTCATAGTCCCGAGGGAGGAGTCAGGAGACGTACAAGGAAGAAGAAAGGTTAATGGTGATCTCACCATCCACCAGGGGCCAGGGAGGAGGATAAGGACCCTGTGGGCCTCCCAAGGAGGACAGACAGCAACTGGGCTTTGAAGGGACAGACAGAGGTGGGGAAGAAGGCCTGGCAGGGCAGAGAGCTCCAGCAGTGGGACACAAGGCTCCAGATGGGCTGGGCCAAGGGCATCCAGGAAGCCCCAGGTGCCCAGCAAAGGCCTTGATGCTGCCATGGGAGACTGAGGGGGCCATCGTAGGAAGTGGCCATGCATGGCTGGAACAGCTCACCCCGGGGATCTTACGGTGGGCAGAGACACAGCACCCTGCCCTACTCACCCACTGCTGCCCGTAACTGTCTTCCAGGTCATTGACGGTGCGGTCATCCCAGTTCAGCCGGATGCCCACCAGGTTGCCGGGCAAGAAGCCATTTTCTGCCAGGATCACAAAGTAAGAGAAGAAGCCACCGAGAGCCTGGATCATTCCTGGAAGGAGGAGAGAGGAAGCCGAGGAGAGGCTCAGATTGGGGCCAGCAGCCAACCCAGGGCACCTCAGAGGGCCCGGAGGCCTCCTTGGAGAGGGGAGTATGCCCTCCTGGCCCTGTTATCTGGACATTGGTTCCCAGAGGGTGACCTGAGGTCTCACTTGGTGGTGAGGCCCTGAGATGGGTGGGCCACCTGGGACAGGGGCTTTGGA
TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCGCTTGGCCTGCAGATGCAATTTTTAAAATCATTGAGCTATACCCTTAAGATGCGTGCACTTCACTGTATGAAAGTTTATCTCAATAAAAAGAGAGAATAGCGTAGTGACCTAGAACTTTGGACAGCCTTGGTTCAAATCCCAGATTTGTCTCTTCTTAGCTGTGTGCAAATCACTTCTTCTCTCTGTGCACATTTAATGCACACTTAGAAGTGGGCAGAGCACATAGCAGGCACTCAGTGAATCACTGTCATCACCATCATCATCGTCATTGTGTCCCCTGGGTCCTACTCCTATAGGAGAGGCTCCCAGTCACCATCCCACGTCTGCTTCCCTCCCTCTCCCCTGTTCTGATTCCACAATGCCATCGCCTGGTGAATTCAAGCTGCTCTGACTTTCGTGGAGTTGAAAACTCCGTGATTAGATGGCTCTGAGATTCCGTGACTTCCAAGCCAGTGCCAGGCTAAGTTCCTGCAGTTTCGAGAGTCGCCTGGCAGCGCGCCCCAACAGAGGGGATGCTGTCCCAGCCGCAGTCCCCGTCTGGAAAGCAGGCACAACACACACACCGCTTCTCTCTCCCCACTGATATATTTGATAATTGTCCAGAACCAGAGATGGCATCAGCCGGGGGGCTGAAGGGGAGTAAAAAAGAGCCCAGGGAGGTGGCTGGGGCGGGAGGAATGGATAGAGGGGTGAGGAGAGGGAGAGAAACTGACACAGAAAAGAGAGAGGAGAGAGGTTTGGGGCAGGGGAGAGAAGCCAGCCAGAGTGGGGGCGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGGAGAGATGGGAAGAGAGAGAAGAGTGGGAACCAGGTGGCAGAGCCATCCAGCAGGGCGAGGGGAGCCTGGGACCAGCTGCCTGAGACCCTGCTGCCCCCCGCCCCCCTCGGCTGCCTTGCCGAGCTCCCTCACCCCCTGGGTTCCTGCGCAGGATGAGTTTGCGGATTTCGTCGTAGACGAAGATGAGGAAACTGTAGGGGAAGGCACAGAACCACCAGCTGGGCCTGCAGAGGGGAGAGCAGGAGGGCTTGAGTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCTGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCACAGTGCAGACACCCAGAGACAGCAGCACAGACACAGAGACAGAGAGGCAGAGACATAGGGAGAGACAGAGATGGGGAGACATGCCCCGACAGAGAGAGACAAAGATAGAGGCAGAGCGATGGTGACACAGAAAGAGACAAAAGACAGGGACAGACACAGAGACAGGGACAGACACAGAGACAGACAGGGACAGACAGAGAGACAGACACAGGGACAGACACAGAGACAGGGACAGAAACAGACACAGAGACAGGGACAGACACAGAGAGGCACTGGTATAAAAAGAAAAGGCCAGGGGCACCTCCACCACACACACAGAGGCTGAGAGAGAATCTAGGACACACAGGACCCCTTGAGAGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCTCCGGGTCTTGCAGATGATCAGATCGGCCCACTGGACGACAACGATGCTCACAAAGAAGGCCGTGTGGCAGGTGAACTCCACCACCTTCCTCTGCTCGTATGTCTGCAGGAGCGGTGACCAGGGCACGGGACGTCAGTTAGTGGCACTGCAGCCCTAGCCGCCACCCCGACGTTCCGGTGCTCTTTGCCCCGCCCCATCCTGCATGGGGTCCTCAGGGCCTCAGGTGTGTCTTCCTTCTGCGGGCTCATAGTCCCGAGGGAGGAGTCAGGAGACGTACAAGGAAGAAGAAAGGTTAATGGTGATCTCACCATCCACCAGGGGCCAGGGAGGAGGATAAGGACCCTGTGGGCCTCCCAAGGAGGACAGACAGCAACTGGGCTTTGAAGGGACAGACAGAGGTGGGGAAGAAGGCCTGGCAGGGCAGAGAGCTCCAGCAGTGGGACACAAGGCTCCAGATGGGCTGGGCCAAGGGCATCCAGGAAGCCCCAGGTGCCCAGCAAAGGCCTTGATGCTGCCATGGGAGACTGAGGGGGCCATCGTAGGAAGTGGCCATGCATGGCTGGAACAGCTCACCCCGGGGATCTTACGGTGGGCAGAGACACAGCACCCTGCCCTACTCACCCACTGCTGCCCGTAACTGTCTTCCAGGTCATTGACGGTGCGGTCATCCCAGTTCAGCCGGATGCCCACCAGGTTGCCGGGCAAGAAGCCATTTTCTGCCAGGATCACAAAGTAAGAGAAGAAGCCACCGAGAGCCTGGATCATTCCTGGAAGGAGGAGAGAGGAAGCCGAGGAGAGGCTCAGATTGGGGCCAGCAGCCAACCCAGGGCACCTCAGAGGGCCCGGAGGCCTCCTTGGAGAGGGGAGTATGCCCTCCTGGCCCTGTTATCTGGACATTGGTTCCCAGAGGGTGACCTGAGGTCTCACTTGGTGGTGAGGCCCTGAGATGGGTGGGCCACCTGGGACAGGGGCTTTGGA