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_27500
The gene PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Houge-Janssens syndrome 2
TTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGACCCCAGTGAAACTCCTTCAAGGACCCCTAAATAAGAACCTTTGTGGAAGGCACGCTGACAGAGACCTTCTGCTGGCTGGCATAATATTACGTTTTTCCTTTGAGTCATTCATTGCAACCATTTTTAAAGGCTATTTTAATGAAGGTCGGGATGGGTAATAGGGAAGTTTTCTCTGAGGAGATGAGCCCATGATGGGGTGCAGGATGGGGCTCCAGGGCTGCGGATGGTGGAGAGGGAGCTGTCCAGTGACTTTGTGTTCTCACCACAGCCACCGCTGGAGTCGCTGGCCACAGTGGAGGAGACAGTGGTGCGGGACAAGGCAGTGGAGTCCTTACGGGCCATCTCACACGAGCACTCGCCCTCTGACCTGGAGGCGCACTTTGTGCCGCTAGTGAAGCGGCTGGCGGGCGGCGACTGGTTCACCTCCCGCACCTCGGCCTGCGGCCTCTTCTCCGTCTGCTACCCCCGAGTGTCCAGTGCTGTGAAGGCGGAACTTCGACAGTGAGTCTCTGCCTCCTTGGAAGCTCCAAGCTCCCATCTCAGCTCCAACCTTCTCTAAAGCCTCAGACTCCTTTTGGTCTAGCTGGGGCCCAAATGCCCCTGAACTCTCTCCACTCCCACTCCTGCTTACCACCTGATAGGCCACATCCTCGAGAGTTGGTCTCTGGACACGGCCACGTGTCAGTTTACCCACCTCTGCCCCCTTGCTCACTTAGGAATTGAGATGATGACAGGTCCTCCTTCCCACTGGTTAATGTGAGGATTTAAAAGAATTATCACACATAAAGTGCTTAGAGCAAAATCTGGAACATAAAAACTTTCAGCAACTTACATCTGATGGTATCTCCAGCCTGTCCCAGGTCCAGTGCCTTTGGCAGATAAACCACCTCAGTTTTCAGCCTCCTGCTCGTCTACTTTGCAAACGATTGACCGTCAAGCCCGGGTTTGAGCCTGACTCACTCCAGAACTCTGGTTTATGGCTGTACACTTGCTTAGATACTTACACTGGCCCCCACCGCCTTTGATCGAAGCAATTGCTGCTGAAAAATAAAGCCTTTCTGTGGCTCTAGACCTGCCTCTTAGTTAAGCAGTTTTTTGTTTGTTTGTTTTTTGAGATAGGATCTCGCTCTGTCATCCAGGCTGAAGTGCACTGGTGCAGTCATAGCCCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCTGCCTTAGCCTCTCAAATAGCTGGGACCACAGGTGTGCAACACCACGCTGGGCTCATTTTTTATTTTTGGCAGAGATGGGGTCTCACTATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGTCTTCCAAAGTGTTCAGATTACAGGTATGAGCCACTGTGCCTGGCTCGTTGGTTAAGCAATTTTTATGGGAATGATGTAATCGTCAGCACTTAGCATTGACTAGATTTATTATGCGCAATCTGCGAAGTGTCTCACACACACTATTTTCATTTAAACCTCATGCGGACCTGTGGGGTAGGTACTGTTACTATCAGCTCCGTTTCATAGGGCTGGGAAGACAGAGAGGGGGTCATCACTTGCCCAAGGTCATTCAGCTAAAACCTGGACCCACACAACTGCAGAGTCTGTGCTTGCTCCTCTCTGCCATACTGCCTGCTGCCTCAGGATCCCCGTCCCCGACTCCCAGGTACTTCCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGTTTGCCAAGGTGCTGGAGCTGGACAACGTCAAGAGTGAGATCATCCCCATGTTCTCCAACCTGGCCTCTGACGAGCAGGTGAGTTTTGCTTCCTGGCCCTCTGCTCTCCCGTCCTTCTGGTGGTTCCTGCCCATGAAAGAGAATCCCAGAGCTCAGCAAGGCCTCTGCTGCCCTCCCACTGTTCCTCTCCTCTCCCTAGGACTCGGTGCGGCTGCTGGCGGTGGAGGCGTGCGTGAACATCGCCCAGCTTCTGCCCCAGGAGGATCTGGAGGCCCTGGTGATGCCCACTCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCTACATGGTGGCTGACAAGTTCACAGAGGTAGATGAGCGACCGTTGACATTGTCCCACTGGTGGGGACACTGACACTCTCAGAAGGGAAGCATATAGGAGCTGAGGTTTCCATTAGGCCGATGGAACCATTGGGCGTTTGAGCAATAAGATCTCTATGATCATCTAACTGCGTCTCGCTTCGTGTGCCAATCCTGGTTGATTGACATGGCATCTTAAAGTGCTGCCTTGAGAAAGATTCTGAGGCAAAGTTAAGGCTACGTGGAGGAAAGTGCCACAGGAGCAGAGAAGGGTAGCACATGTGGGGTGTTCCTGACATAATCAAGCTGTCCTTTCACAAAGGGGAAGACAGCCCAAAAAGGTGGGGTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTGTCGCCCAGGCTAGAGTCTTGTTACCCAGCTGGAGTGTGGTGGCGCAATCTTGGCTCACTGCAGCCTGTCCCTCCCGGGTGCAGGCATTTCTCCTGCCTCAGCCTCCTGAGGGACTGGGATTACAGATGCCCACCACGACACCCGGCTAGTTTTTGTATTTTTATTAGAGACGGGGTTTCACCATGTTGTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAAGCGATCCGCCTGCCTTCATCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACCGCGCCCAGCCCCGGAAAGTTTAATTAACTGATCAGAGTGACACTACCAGCCAGGCAGAAAGGGGACAAGACTCCAGGTCTGTGACTCTCAGGACAGTGCTCCTTCCACAGGGATCCAGATTGCCTCATCCCACAAACATGTTTGCTGAGCACCAGCTATTTGCTGGGCCAGTGAATTCGGATCATTCCTGGCCTTCATGGAGCTAGGCAGTCTGAAGGGGAAGACTGACTTAGGGGAAATTTGATTATAAAGTGTCACAGGTGTGGGACAGACAGACAGATGTGGGGCCTTGGAAGCATTGAGGAGGGGAGGTGGTGTTACAGCTGGTTCTAGAAGATGAGTGGGTAAGAGCTAAGATAGGAACTTTGTTCCAGCCAGAGGACAAAGAACCCTGGGAGGTGAGAGCAAGTGCAAGCAGGAACATTCAGGCCTGATCTTGATGGCCCAGCCTGAGAGAAAGCAGGAGAGAGGGCAGGGTGGGATCGGAGAGAGGGCAGGGTGGGATCAGAGAGGCCTTGAGTGCCACTCCACCCTGAGGCGCCCTTTGCCTTTAATTATGCTGGTTCCCACTGGCATTTGCGGGAAGGACTCAGAGCTTCAGAATAGCGTACCATCACCACAGTTAGGGAAGGTTCTTCCCATCCTTGTCTCCTGAGCTGCATAAACTGTGTCACACTGGGTCTTAGAATAAAAATTCCATGAGGGCAGGAATTTTAGGCTGTTAAACCAGTTCTTGGCACATAGTAGACATTCAGTAAATATTTGCAAGATGAATAAAAGGCAGTATTTTCCCAAGATATCATGAGGTCCTTCAAGATTTTTACTTGTTCATTCCCGTCTTCATAATGAACTGTCCTGCTTCCTACCAGGTCTTCAGGAACCAGCTTTGCAGCAGGAGCCGTGCGTCTTTCCATGCCTGGTGCCATGAAACAGGCAGGGCCAAGCGTGCCTCCCTTTTTTTTTTTTTTTAAGACAGAGTCTCAGTCTTTTGC
TTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGACCCCAGTGAAACTCCTTCAAGGACCCCTAAATAAGAACCTTTGTGGAAGGCACGCTGACAGAGACCTTCTGCTGGCTGGCATAATATTACGTTTTTCCTTTGAGTCATTCATTGCAACCATTTTTAAAGGCTATTTTAATGAAGGTCGGGATGGGTAATAGGGAAGTTTTCTCTGAGGAGATGAGCCCATGATGGGGTGCAGGATGGGGCTCCAGGGCTGCGGATGGTGGAGAGGGAGCTGTCCAGTGACTTTGTGTTCTCACCACAGCCACCGCTGGAGTCGCTGGCCACAGTGGAGGAGACAGTGGTGCGGGACAAGGCAGTGGAGTCCTTACGGGCCATCTCACACGAGCACTCGCCCTCTGACCTGGAGGCGCACTTTGTGCCGCTAGTGAAGCGGCTGGCGGGCGGCGACTGGTTCACCTCCCGCACCTCGGCCTGCGGCCTCTTCTCCGTCTGCTACCCCCGAGTGTCCAGTGCTGTGAAGGCGGAACTTCGACAGTGAGTCTCTGCCTCCTTGGAAGCTCCAAGCTCCCATCTCAGCTCCAACCTTCTCTAAAGCCTCAGACTCCTTTTGGTCTAGCTGGGGCCCAAATGCCCCTGAACTCTCTCCACTCCCACTCCTGCTTACCACCTGATAGGCCACATCCTCGAGAGTTGGTCTCTGGACACGGCCACGTGTCAGTTTACCCACCTCTGCCCCCTTGCTCACTTAGGAATTGAGATGATGACAGGTCCTCCTTCCCACTGGTTAATGTGAGGATTTAAAAGAATTATCACACATAAAGTGCTTAGAGCAAAATCTGGAACATAAAAACTTTCAGCAACTTACATCTGATGGTATCTCCAGCCTGTCCCAGGTCCAGTGCCTTTGGCAGATAAACCACCTCAGTTTTCAGCCTCCTGCTCGTCTACTTTGCAAACGATTGACCGTCAAGCCCGGGTTTGAGCCTGACTCACTCCAGAACTCTGGTTTATGGCTGTACACTTGCTTAGATACTTACACTGGCCCCCACCGCCTTTGATCGAAGCAATTGCTGCTGAAAAATAAAGCCTTTCTGTGGCTCTAGACCTGCCTCTTAGTTAAGCAGTTTTTTGTTTGTTTGTTTTTTGAGATAGGATCTCGCTCTGTCATCCAGGCTGAAGTGCACTGGTGCAGTCATAGCCCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCTGCCTTAGCCTCTCAAATAGCTGGGACCACAGGTGTGCAACACCACGCTGGGCTCATTTTTTATTTTTGGCAGAGATGGGGTCTCACTATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGTCTTCCAAAGTGTTCAGATTACAGGTATGAGCCACTGTGCCTGGCTCGTTGGTTAAGCAATTTTTATGGGAATGATGTAATCGTCAGCACTTAGCATTGACTAGATTTATTATGCGCAATCTGCGAAGTGTCTCACACACACTATTTTCATTTAAACCTCATGCGGACCTGTGGGGTAGGTACTGTTACTATCAGCTCCGTTTCATAGGGCTGGGAAGACAGAGAGGGGGTCATCACTTGCCCAAGGTCATTCAGCTAAAACCTGGACCCACACAACTGCAGAGTCTGTGCTTGCTCCTCTCTGCCATACTGCCTGCTGCCTCAGGATCCCCGTCCCCGACTCCCAGGTACTTCCGGAACCTGTGCTCAGATGACACCCCCGTGGTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGTTTGCCAAGGTGCTGGAGCTGGACAACGTCAAGAGTGAGATCATCCCCATGTTCTCCAACCTGGCCTCTGACGAGCAGGTGAGTTTTGCTTCCTGGCCCTCTGCTCTCCCGTCCTTCTGGTGGTTCCTGCCCATGAAAGAGAATCCCAGAGCTCAGCAAGGCCTCTGCTGCCCTCCCACTGTTCCTCTCCTCTCCCTAGGACTCGGTGCGGCTGCTGGCGGTGGAGGCGTGCGTGAACATCGCCCAGCTTCTGCCCCAGGAGGATCTGGAGGCCCTGGTGATGCCCACTCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCTACATGGTGGCTGACAAGTTCACAGAGGTAGATGAGCGACCGTTGACATTGTCCCACTGGTGGGGACACTGACACTCTCAGAAGGGAAGCATATAGGAGCTGAGGTTTCCATTAGGCCGATGGAACCATTGGGCGTTTGAGCAATAAGATCTCTATGATCATCTAACTGCGTCTCGCTTCGTGTGCCAATCCTGGTTGATTGACATGGCATCTTAAAGTGCTGCCTTGAGAAAGATTCTGAGGCAAAGTTAAGGCTACGTGGAGGAAAGTGCCACAGGAGCAGAGAAGGGTAGCACATGTGGGGTGTTCCTGACATAATCAAGCTGTCCTTTCACAAAGGGGAAGACAGCCCAAAAAGGTGGGGTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTGTCGCCCAGGCTAGAGTCTTGTTACCCAGCTGGAGTGTGGTGGCGCAATCTTGGCTCACTGCAGCCTGTCCCTCCCGGGTGCAGGCATTTCTCCTGCCTCAGCCTCCTGAGGGACTGGGATTACAGATGCCCACCACGACACCCGGCTAGTTTTTGTATTTTTATTAGAGACGGGGTTTCACCATGTTGTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAAGCGATCCGCCTGCCTTCATCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACCGCGCCCAGCCCCGGAAAGTTTAATTAACTGATCAGAGTGACACTACCAGCCAGGCAGAAAGGGGACAAGACTCCAGGTCTGTGACTCTCAGGACAGTGCTCCTTCCACAGGGATCCAGATTGCCTCATCCCACAAACATGTTTGCTGAGCACCAGCTATTTGCTGGGCCAGTGAATTCGGATCATTCCTGGCCTTCATGGAGCTAGGCAGTCTGAAGGGGAAGACTGACTTAGGGGAAATTTGATTATAAAGTGTCACAGGTGTGGGACAGACAGACAGATGTGGGGCCTTGGAAGCATTGAGGAGGGGAGGTGGTGTTACAGCTGGTTCTAGAAGATGAGTGGGTAAGAGCTAAGATAGGAACTTTGTTCCAGCCAGAGGACAAAGAACCCTGGGAGGTGAGAGCAAGTGCAAGCAGGAACATTCAGGCCTGATCTTGATGGCCCAGCCTGAGAGAAAGCAGGAGAGAGGGCAGGGTGGGATCGGAGAGAGGGCAGGGTGGGATCAGAGAGGCCTTGAGTGCCACTCCACCCTGAGGCGCCCTTTGCCTTTAATTATGCTGGTTCCCACTGGCATTTGCGGGAAGGACTCAGAGCTTCAGAATAGCGTACCATCACCACAGTTAGGGAAGGTTCTTCCCATCCTTGTCTCCTGAGCTGCATAAACTGTGTCACACTGGGTCTTAGAATAAAAATTCCATGAGGGCAGGAATTTTAGGCTGTTAAACCAGTTCTTGGCACATAGTAGACATTCAGTAAATATTTGCAAGATGAATAAAAGGCAGTATTTTCCCAAGATATCATGAGGTCCTTCAAGATTTTTACTTGTTCATTCCCGTCTTCATAATGAACTGTCCTGCTTCCTACCAGGTCTTCAGGAACCAGCTTTGCAGCAGGAGCCGTGCGTCTTTCCATGCCTGGTGCCATGAAACAGGCAGGGCCAAGCGTGCCTCCCTTTTTTTTTTTTTTTAAGACAGAGTCTCAGTCTTTTGC
Task1_train_27501
A mutation on Chromosome 19 affecting PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Houge-Janssens syndrome 2
TAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGACCCCAGTGAAACTCCTTCAAGGACCCCTAAATAAGAACCTTTGTGGAAGGCACGCTGACAGAGACCTTCTGCTGGCTGGCATAATATTACGTTTTTCCTTTGAGTCATTCATTGCAACCATTTTTAAAGGCTATTTTAATGAAGGTCGGGATGGGTAATAGGGAAGTTTTCTCTGAGGAGATGAGCCCATGATGGGGTGCAGGATGGGGCTCCAGGGCTGCGGATGGTGGAGAGGGAGCTGTCCAGTGACTTTGTGTTCTCACCACAGCCACCGCTGGAGTCGCTGGCCACAGTGGAGGAGACAGTGGTGCGGGACAAGGCAGTGGAGTCCTTACGGGCCATCTCACACGAGCACTCGCCCTCTGACCTGGAGGCGCACTTTGTGCCGCTAGTGAAGCGGCTGGCGGGCGGCGACTGGTTCACCTCCCGCACCTCGGCCTGCGGCCTCTTCTCCGTCTGCTACCCCCGAGTGTCCAGTGCTGTGAAGGCGGAACTTCGACAGTGAGTCTCTGCCTCCTTGGAAGCTCCAAGCTCCCATCTCAGCTCCAACCTTCTCTAAAGCCTCAGACTCCTTTTGGTCTAGCTGGGGCCCAAATGCCCCTGAACTCTCTCCACTCCCACTCCTGCTTACCACCTGATAGGCCACATCCTCGAGAGTTGGTCTCTGGACACGGCCACGTGTCAGTTTACCCACCTCTGCCCCCTTGCTCACTTAGGAATTGAGATGATGACAGGTCCTCCTTCCCACTGGTTAATGTGAGGATTTAAAAGAATTATCACACATAAAGTGCTTAGAGCAAAATCTGGAACATAAAAACTTTCAGCAACTTACATCTGATGGTATCTCCAGCCTGTCCCAGGTCCAGTGCCTTTGGCAGATAAACCACCTCAGTTTTCAGCCTCCTGCTCGTCTACTTTGCAAACGATTGACCGTCAAGCCCGGGTTTGAGCCTGACTCACTCCAGAACTCTGGTTTATGGCTGTACACTTGCTTAGATACTTACACTGGCCCCCACCGCCTTTGATCGAAGCAATTGCTGCTGAAAAATAAAGCCTTTCTGTGGCTCTAGACCTGCCTCTTAGTTAAGCAGTTTTTTGTTTGTTTGTTTTTTGAGATAGGATCTCGCTCTGTCATCCAGGCTGAAGTGCACTGGTGCAGTCATAGCCCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCTGCCTTAGCCTCTCAAATAGCTGGGACCACAGGTGTGCAACACCACGCTGGGCTCATTTTTTATTTTTGGCAGAGATGGGGTCTCACTATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGTCTTCCAAAGTGTTCAGATTACAGGTATGAGCCACTGTGCCTGGCTCGTTGGTTAAGCAATTTTTATGGGAATGATGTAATCGTCAGCACTTAGCATTGACTAGATTTATTATGCGCAATCTGCGAAGTGTCTCACACACACTATTTTCATTTAAACCTCATGCGGACCTGTGGGGTAGGTACTGTTACTATCAGCTCCGTTTCATAGGGCTGGGAAGACAGAGAGGGGGTCATCACTTGCCCAAGGTCATTCAGCTAAAACCTGGACCCACACAACTGCAGAGTCTGTGCTTGCTCCTCTCTGCCATACTGCCTGCTGCCTCAGGATCCCCGTCCCCGACTCCCAGGTACTTCCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGTTTGCCAAGGTGCTGGAGCTGGACAACGTCAAGAGTGAGATCATCCCCATGTTCTCCAACCTGGCCTCTGACGAGCAGGTGAGTTTTGCTTCCTGGCCCTCTGCTCTCCCGTCCTTCTGGTGGTTCCTGCCCATGAAAGAGAATCCCAGAGCTCAGCAAGGCCTCTGCTGCCCTCCCACTGTTCCTCTCCTCTCCCTAGGACTCGGTGCGGCTGCTGGCGGTGGAGGCGTGCGTGAACATCGCCCAGCTTCTGCCCCAGGAGGATCTGGAGGCCCTGGTGATGCCCACTCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCTACATGGTGGCTGACAAGTTCACAGAGGTAGATGAGCGACCGTTGACATTGTCCCACTGGTGGGGACACTGACACTCTCAGAAGGGAAGCATATAGGAGCTGAGGTTTCCATTAGGCCGATGGAACCATTGGGCGTTTGAGCAATAAGATCTCTATGATCATCTAACTGCGTCTCGCTTCGTGTGCCAATCCTGGTTGATTGACATGGCATCTTAAAGTGCTGCCTTGAGAAAGATTCTGAGGCAAAGTTAAGGCTACGTGGAGGAAAGTGCCACAGGAGCAGAGAAGGGTAGCACATGTGGGGTGTTCCTGACATAATCAAGCTGTCCTTTCACAAAGGGGAAGACAGCCCAAAAAGGTGGGGTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTGTCGCCCAGGCTAGAGTCTTGTTACCCAGCTGGAGTGTGGTGGCGCAATCTTGGCTCACTGCAGCCTGTCCCTCCCGGGTGCAGGCATTTCTCCTGCCTCAGCCTCCTGAGGGACTGGGATTACAGATGCCCACCACGACACCCGGCTAGTTTTTGTATTTTTATTAGAGACGGGGTTTCACCATGTTGTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAAGCGATCCGCCTGCCTTCATCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACCGCGCCCAGCCCCGGAAAGTTTAATTAACTGATCAGAGTGACACTACCAGCCAGGCAGAAAGGGGACAAGACTCCAGGTCTGTGACTCTCAGGACAGTGCTCCTTCCACAGGGATCCAGATTGCCTCATCCCACAAACATGTTTGCTGAGCACCAGCTATTTGCTGGGCCAGTGAATTCGGATCATTCCTGGCCTTCATGGAGCTAGGCAGTCTGAAGGGGAAGACTGACTTAGGGGAAATTTGATTATAAAGTGTCACAGGTGTGGGACAGACAGACAGATGTGGGGCCTTGGAAGCATTGAGGAGGGGAGGTGGTGTTACAGCTGGTTCTAGAAGATGAGTGGGTAAGAGCTAAGATAGGAACTTTGTTCCAGCCAGAGGACAAAGAACCCTGGGAGGTGAGAGCAAGTGCAAGCAGGAACATTCAGGCCTGATCTTGATGGCCCAGCCTGAGAGAAAGCAGGAGAGAGGGCAGGGTGGGATCGGAGAGAGGGCAGGGTGGGATCAGAGAGGCCTTGAGTGCCACTCCACCCTGAGGCGCCCTTTGCCTTTAATTATGCTGGTTCCCACTGGCATTTGCGGGAAGGACTCAGAGCTTCAGAATAGCGTACCATCACCACAGTTAGGGAAGGTTCTTCCCATCCTTGTCTCCTGAGCTGCATAAACTGTGTCACACTGGGTCTTAGAATAAAAATTCCATGAGGGCAGGAATTTTAGGCTGTTAAACCAGTTCTTGGCACATAGTAGACATTCAGTAAATATTTGCAAGATGAATAAAAGGCAGTATTTTCCCAAGATATCATGAGGTCCTTCAAGATTTTTACTTGTTCATTCCCGTCTTCATAATGAACTGTCCTGCTTCCTACCAGGTCTTCAGGAACCAGCTTTGCAGCAGGAGCCGTGCGTCTTTCCATGCCTGGTGCCATGAAACAGGCAGGGCCAAGCGTGCCTCCCTTTTTTTTTTTTTTTAAGACAGAGTCTCAGTCTTTTGCC
TAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGACCCCAGTGAAACTCCTTCAAGGACCCCTAAATAAGAACCTTTGTGGAAGGCACGCTGACAGAGACCTTCTGCTGGCTGGCATAATATTACGTTTTTCCTTTGAGTCATTCATTGCAACCATTTTTAAAGGCTATTTTAATGAAGGTCGGGATGGGTAATAGGGAAGTTTTCTCTGAGGAGATGAGCCCATGATGGGGTGCAGGATGGGGCTCCAGGGCTGCGGATGGTGGAGAGGGAGCTGTCCAGTGACTTTGTGTTCTCACCACAGCCACCGCTGGAGTCGCTGGCCACAGTGGAGGAGACAGTGGTGCGGGACAAGGCAGTGGAGTCCTTACGGGCCATCTCACACGAGCACTCGCCCTCTGACCTGGAGGCGCACTTTGTGCCGCTAGTGAAGCGGCTGGCGGGCGGCGACTGGTTCACCTCCCGCACCTCGGCCTGCGGCCTCTTCTCCGTCTGCTACCCCCGAGTGTCCAGTGCTGTGAAGGCGGAACTTCGACAGTGAGTCTCTGCCTCCTTGGAAGCTCCAAGCTCCCATCTCAGCTCCAACCTTCTCTAAAGCCTCAGACTCCTTTTGGTCTAGCTGGGGCCCAAATGCCCCTGAACTCTCTCCACTCCCACTCCTGCTTACCACCTGATAGGCCACATCCTCGAGAGTTGGTCTCTGGACACGGCCACGTGTCAGTTTACCCACCTCTGCCCCCTTGCTCACTTAGGAATTGAGATGATGACAGGTCCTCCTTCCCACTGGTTAATGTGAGGATTTAAAAGAATTATCACACATAAAGTGCTTAGAGCAAAATCTGGAACATAAAAACTTTCAGCAACTTACATCTGATGGTATCTCCAGCCTGTCCCAGGTCCAGTGCCTTTGGCAGATAAACCACCTCAGTTTTCAGCCTCCTGCTCGTCTACTTTGCAAACGATTGACCGTCAAGCCCGGGTTTGAGCCTGACTCACTCCAGAACTCTGGTTTATGGCTGTACACTTGCTTAGATACTTACACTGGCCCCCACCGCCTTTGATCGAAGCAATTGCTGCTGAAAAATAAAGCCTTTCTGTGGCTCTAGACCTGCCTCTTAGTTAAGCAGTTTTTTGTTTGTTTGTTTTTTGAGATAGGATCTCGCTCTGTCATCCAGGCTGAAGTGCACTGGTGCAGTCATAGCCCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCTGCCTTAGCCTCTCAAATAGCTGGGACCACAGGTGTGCAACACCACGCTGGGCTCATTTTTTATTTTTGGCAGAGATGGGGTCTCACTATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGTCTTCCAAAGTGTTCAGATTACAGGTATGAGCCACTGTGCCTGGCTCGTTGGTTAAGCAATTTTTATGGGAATGATGTAATCGTCAGCACTTAGCATTGACTAGATTTATTATGCGCAATCTGCGAAGTGTCTCACACACACTATTTTCATTTAAACCTCATGCGGACCTGTGGGGTAGGTACTGTTACTATCAGCTCCGTTTCATAGGGCTGGGAAGACAGAGAGGGGGTCATCACTTGCCCAAGGTCATTCAGCTAAAACCTGGACCCACACAACTGCAGAGTCTGTGCTTGCTCCTCTCTGCCATACTGCCTGCTGCCTCAGGATCCCCGTCCCCGACTCCCAGGTACTTCCGGAACCTGTGCTCAGATGACACCCCCACGGTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGTTTGCCAAGGTGCTGGAGCTGGACAACGTCAAGAGTGAGATCATCCCCATGTTCTCCAACCTGGCCTCTGACGAGCAGGTGAGTTTTGCTTCCTGGCCCTCTGCTCTCCCGTCCTTCTGGTGGTTCCTGCCCATGAAAGAGAATCCCAGAGCTCAGCAAGGCCTCTGCTGCCCTCCCACTGTTCCTCTCCTCTCCCTAGGACTCGGTGCGGCTGCTGGCGGTGGAGGCGTGCGTGAACATCGCCCAGCTTCTGCCCCAGGAGGATCTGGAGGCCCTGGTGATGCCCACTCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCTACATGGTGGCTGACAAGTTCACAGAGGTAGATGAGCGACCGTTGACATTGTCCCACTGGTGGGGACACTGACACTCTCAGAAGGGAAGCATATAGGAGCTGAGGTTTCCATTAGGCCGATGGAACCATTGGGCGTTTGAGCAATAAGATCTCTATGATCATCTAACTGCGTCTCGCTTCGTGTGCCAATCCTGGTTGATTGACATGGCATCTTAAAGTGCTGCCTTGAGAAAGATTCTGAGGCAAAGTTAAGGCTACGTGGAGGAAAGTGCCACAGGAGCAGAGAAGGGTAGCACATGTGGGGTGTTCCTGACATAATCAAGCTGTCCTTTCACAAAGGGGAAGACAGCCCAAAAAGGTGGGGTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTGTCGCCCAGGCTAGAGTCTTGTTACCCAGCTGGAGTGTGGTGGCGCAATCTTGGCTCACTGCAGCCTGTCCCTCCCGGGTGCAGGCATTTCTCCTGCCTCAGCCTCCTGAGGGACTGGGATTACAGATGCCCACCACGACACCCGGCTAGTTTTTGTATTTTTATTAGAGACGGGGTTTCACCATGTTGTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAAGCGATCCGCCTGCCTTCATCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACCGCGCCCAGCCCCGGAAAGTTTAATTAACTGATCAGAGTGACACTACCAGCCAGGCAGAAAGGGGACAAGACTCCAGGTCTGTGACTCTCAGGACAGTGCTCCTTCCACAGGGATCCAGATTGCCTCATCCCACAAACATGTTTGCTGAGCACCAGCTATTTGCTGGGCCAGTGAATTCGGATCATTCCTGGCCTTCATGGAGCTAGGCAGTCTGAAGGGGAAGACTGACTTAGGGGAAATTTGATTATAAAGTGTCACAGGTGTGGGACAGACAGACAGATGTGGGGCCTTGGAAGCATTGAGGAGGGGAGGTGGTGTTACAGCTGGTTCTAGAAGATGAGTGGGTAAGAGCTAAGATAGGAACTTTGTTCCAGCCAGAGGACAAAGAACCCTGGGAGGTGAGAGCAAGTGCAAGCAGGAACATTCAGGCCTGATCTTGATGGCCCAGCCTGAGAGAAAGCAGGAGAGAGGGCAGGGTGGGATCGGAGAGAGGGCAGGGTGGGATCAGAGAGGCCTTGAGTGCCACTCCACCCTGAGGCGCCCTTTGCCTTTAATTATGCTGGTTCCCACTGGCATTTGCGGGAAGGACTCAGAGCTTCAGAATAGCGTACCATCACCACAGTTAGGGAAGGTTCTTCCCATCCTTGTCTCCTGAGCTGCATAAACTGTGTCACACTGGGTCTTAGAATAAAAATTCCATGAGGGCAGGAATTTTAGGCTGTTAAACCAGTTCTTGGCACATAGTAGACATTCAGTAAATATTTGCAAGATGAATAAAAGGCAGTATTTTCCCAAGATATCATGAGGTCCTTCAAGATTTTTACTTGTTCATTCCCGTCTTCATAATGAACTGTCCTGCTTCCTACCAGGTCTTCAGGAACCAGCTTTGCAGCAGGAGCCGTGCGTCTTTCCATGCCTGGTGCCATGAAACAGGCAGGGCCAAGCGTGCCTCCCTTTTTTTTTTTTTTTAAGACAGAGTCTCAGTCTTTTGCC
Task1_train_27502
Chromosome 19 houses a mutation in gene PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
TCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGACCCCAGTGAAACTCCTTCAAGGACCCCTAAATAAGAACCTTTGTGGAAGGCACGCTGACAGAGACCTTCTGCTGGCTGGCATAATATTACGTTTTTCCTTTGAGTCATTCATTGCAACCATTTTTAAAGGCTATTTTAATGAAGGTCGGGATGGGTAATAGGGAAGTTTTCTCTGAGGAGATGAGCCCATGATGGGGTGCAGGATGGGGCTCCAGGGCTGCGGATGGTGGAGAGGGAGCTGTCCAGTGACTTTGTGTTCTCACCACAGCCACCGCTGGAGTCGCTGGCCACAGTGGAGGAGACAGTGGTGCGGGACAAGGCAGTGGAGTCCTTACGGGCCATCTCACACGAGCACTCGCCCTCTGACCTGGAGGCGCACTTTGTGCCGCTAGTGAAGCGGCTGGCGGGCGGCGACTGGTTCACCTCCCGCACCTCGGCCTGCGGCCTCTTCTCCGTCTGCTACCCCCGAGTGTCCAGTGCTGTGAAGGCGGAACTTCGACAGTGAGTCTCTGCCTCCTTGGAAGCTCCAAGCTCCCATCTCAGCTCCAACCTTCTCTAAAGCCTCAGACTCCTTTTGGTCTAGCTGGGGCCCAAATGCCCCTGAACTCTCTCCACTCCCACTCCTGCTTACCACCTGATAGGCCACATCCTCGAGAGTTGGTCTCTGGACACGGCCACGTGTCAGTTTACCCACCTCTGCCCCCTTGCTCACTTAGGAATTGAGATGATGACAGGTCCTCCTTCCCACTGGTTAATGTGAGGATTTAAAAGAATTATCACACATAAAGTGCTTAGAGCAAAATCTGGAACATAAAAACTTTCAGCAACTTACATCTGATGGTATCTCCAGCCTGTCCCAGGTCCAGTGCCTTTGGCAGATAAACCACCTCAGTTTTCAGCCTCCTGCTCGTCTACTTTGCAAACGATTGACCGTCAAGCCCGGGTTTGAGCCTGACTCACTCCAGAACTCTGGTTTATGGCTGTACACTTGCTTAGATACTTACACTGGCCCCCACCGCCTTTGATCGAAGCAATTGCTGCTGAAAAATAAAGCCTTTCTGTGGCTCTAGACCTGCCTCTTAGTTAAGCAGTTTTTTGTTTGTTTGTTTTTTGAGATAGGATCTCGCTCTGTCATCCAGGCTGAAGTGCACTGGTGCAGTCATAGCCCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCTGCCTTAGCCTCTCAAATAGCTGGGACCACAGGTGTGCAACACCACGCTGGGCTCATTTTTTATTTTTGGCAGAGATGGGGTCTCACTATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGTCTTCCAAAGTGTTCAGATTACAGGTATGAGCCACTGTGCCTGGCTCGTTGGTTAAGCAATTTTTATGGGAATGATGTAATCGTCAGCACTTAGCATTGACTAGATTTATTATGCGCAATCTGCGAAGTGTCTCACACACACTATTTTCATTTAAACCTCATGCGGACCTGTGGGGTAGGTACTGTTACTATCAGCTCCGTTTCATAGGGCTGGGAAGACAGAGAGGGGGTCATCACTTGCCCAAGGTCATTCAGCTAAAACCTGGACCCACACAACTGCAGAGTCTGTGCTTGCTCCTCTCTGCCATACTGCCTGCTGCCTCAGGATCCCCGTCCCCGACTCCCAGGTACTTCCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGTTTGCCAAGGTGCTGGAGCTGGACAACGTCAAGAGTGAGATCATCCCCATGTTCTCCAACCTGGCCTCTGACGAGCAGGTGAGTTTTGCTTCCTGGCCCTCTGCTCTCCCGTCCTTCTGGTGGTTCCTGCCCATGAAAGAGAATCCCAGAGCTCAGCAAGGCCTCTGCTGCCCTCCCACTGTTCCTCTCCTCTCCCTAGGACTCGGTGCGGCTGCTGGCGGTGGAGGCGTGCGTGAACATCGCCCAGCTTCTGCCCCAGGAGGATCTGGAGGCCCTGGTGATGCCCACTCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCTACATGGTGGCTGACAAGTTCACAGAGGTAGATGAGCGACCGTTGACATTGTCCCACTGGTGGGGACACTGACACTCTCAGAAGGGAAGCATATAGGAGCTGAGGTTTCCATTAGGCCGATGGAACCATTGGGCGTTTGAGCAATAAGATCTCTATGATCATCTAACTGCGTCTCGCTTCGTGTGCCAATCCTGGTTGATTGACATGGCATCTTAAAGTGCTGCCTTGAGAAAGATTCTGAGGCAAAGTTAAGGCTACGTGGAGGAAAGTGCCACAGGAGCAGAGAAGGGTAGCACATGTGGGGTGTTCCTGACATAATCAAGCTGTCCTTTCACAAAGGGGAAGACAGCCCAAAAAGGTGGGGTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTGTCGCCCAGGCTAGAGTCTTGTTACCCAGCTGGAGTGTGGTGGCGCAATCTTGGCTCACTGCAGCCTGTCCCTCCCGGGTGCAGGCATTTCTCCTGCCTCAGCCTCCTGAGGGACTGGGATTACAGATGCCCACCACGACACCCGGCTAGTTTTTGTATTTTTATTAGAGACGGGGTTTCACCATGTTGTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAAGCGATCCGCCTGCCTTCATCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACCGCGCCCAGCCCCGGAAAGTTTAATTAACTGATCAGAGTGACACTACCAGCCAGGCAGAAAGGGGACAAGACTCCAGGTCTGTGACTCTCAGGACAGTGCTCCTTCCACAGGGATCCAGATTGCCTCATCCCACAAACATGTTTGCTGAGCACCAGCTATTTGCTGGGCCAGTGAATTCGGATCATTCCTGGCCTTCATGGAGCTAGGCAGTCTGAAGGGGAAGACTGACTTAGGGGAAATTTGATTATAAAGTGTCACAGGTGTGGGACAGACAGACAGATGTGGGGCCTTGGAAGCATTGAGGAGGGGAGGTGGTGTTACAGCTGGTTCTAGAAGATGAGTGGGTAAGAGCTAAGATAGGAACTTTGTTCCAGCCAGAGGACAAAGAACCCTGGGAGGTGAGAGCAAGTGCAAGCAGGAACATTCAGGCCTGATCTTGATGGCCCAGCCTGAGAGAAAGCAGGAGAGAGGGCAGGGTGGGATCGGAGAGAGGGCAGGGTGGGATCAGAGAGGCCTTGAGTGCCACTCCACCCTGAGGCGCCCTTTGCCTTTAATTATGCTGGTTCCCACTGGCATTTGCGGGAAGGACTCAGAGCTTCAGAATAGCGTACCATCACCACAGTTAGGGAAGGTTCTTCCCATCCTTGTCTCCTGAGCTGCATAAACTGTGTCACACTGGGTCTTAGAATAAAAATTCCATGAGGGCAGGAATTTTAGGCTGTTAAACCAGTTCTTGGCACATAGTAGACATTCAGTAAATATTTGCAAGATGAATAAAAGGCAGTATTTTCCCAAGATATCATGAGGTCCTTCAAGATTTTTACTTGTTCATTCCCGTCTTCATAATGAACTGTCCTGCTTCCTACCAGGTCTTCAGGAACCAGCTTTGCAGCAGGAGCCGTGCGTCTTTCCATGCCTGGTGCCATGAAACAGGCAGGGCCAAGCGTGCCTCCCTTTTTTTTTTTTTTTAAGACAGAGTCTCAGTCTTTTGCCCAGGCTGGAGTACGGTGGCACAAGCTCAGCTGACTGCAACCTCCACCTCCCAGACTCAAGTGATTCTCGTGCCTTAGCCTCCTGAGTAGCTGGAATTACAGGTGTGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGGCCTCAAGTGATCCACCCACCTCTGTCTCCCAAAGCGCTGGGATTACAGGTGTA
TCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGACCCCAGTGAAACTCCTTCAAGGACCCCTAAATAAGAACCTTTGTGGAAGGCACGCTGACAGAGACCTTCTGCTGGCTGGCATAATATTACGTTTTTCCTTTGAGTCATTCATTGCAACCATTTTTAAAGGCTATTTTAATGAAGGTCGGGATGGGTAATAGGGAAGTTTTCTCTGAGGAGATGAGCCCATGATGGGGTGCAGGATGGGGCTCCAGGGCTGCGGATGGTGGAGAGGGAGCTGTCCAGTGACTTTGTGTTCTCACCACAGCCACCGCTGGAGTCGCTGGCCACAGTGGAGGAGACAGTGGTGCGGGACAAGGCAGTGGAGTCCTTACGGGCCATCTCACACGAGCACTCGCCCTCTGACCTGGAGGCGCACTTTGTGCCGCTAGTGAAGCGGCTGGCGGGCGGCGACTGGTTCACCTCCCGCACCTCGGCCTGCGGCCTCTTCTCCGTCTGCTACCCCCGAGTGTCCAGTGCTGTGAAGGCGGAACTTCGACAGTGAGTCTCTGCCTCCTTGGAAGCTCCAAGCTCCCATCTCAGCTCCAACCTTCTCTAAAGCCTCAGACTCCTTTTGGTCTAGCTGGGGCCCAAATGCCCCTGAACTCTCTCCACTCCCACTCCTGCTTACCACCTGATAGGCCACATCCTCGAGAGTTGGTCTCTGGACACGGCCACGTGTCAGTTTACCCACCTCTGCCCCCTTGCTCACTTAGGAATTGAGATGATGACAGGTCCTCCTTCCCACTGGTTAATGTGAGGATTTAAAAGAATTATCACACATAAAGTGCTTAGAGCAAAATCTGGAACATAAAAACTTTCAGCAACTTACATCTGATGGTATCTCCAGCCTGTCCCAGGTCCAGTGCCTTTGGCAGATAAACCACCTCAGTTTTCAGCCTCCTGCTCGTCTACTTTGCAAACGATTGACCGTCAAGCCCGGGTTTGAGCCTGACTCACTCCAGAACTCTGGTTTATGGCTGTACACTTGCTTAGATACTTACACTGGCCCCCACCGCCTTTGATCGAAGCAATTGCTGCTGAAAAATAAAGCCTTTCTGTGGCTCTAGACCTGCCTCTTAGTTAAGCAGTTTTTTGTTTGTTTGTTTTTTGAGATAGGATCTCGCTCTGTCATCCAGGCTGAAGTGCACTGGTGCAGTCATAGCCCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCTGCCTTAGCCTCTCAAATAGCTGGGACCACAGGTGTGCAACACCACGCTGGGCTCATTTTTTATTTTTGGCAGAGATGGGGTCTCACTATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGTCTTCCAAAGTGTTCAGATTACAGGTATGAGCCACTGTGCCTGGCTCGTTGGTTAAGCAATTTTTATGGGAATGATGTAATCGTCAGCACTTAGCATTGACTAGATTTATTATGCGCAATCTGCGAAGTGTCTCACACACACTATTTTCATTTAAACCTCATGCGGACCTGTGGGGTAGGTACTGTTACTATCAGCTCCGTTTCATAGGGCTGGGAAGACAGAGAGGGGGTCATCACTTGCCCAAGGTCATTCAGCTAAAACCTGGACCCACACAACTGCAGAGTCTGTGCTTGCTCCTCTCTGCCATACTGCCTGCTGCCTCAGGATCCCCGTCCCCGACTCCCAGGTACTTCCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGTTTGCCAAGGTGCTGGAGCTGGACAACGTCAAGAGTGAGATCATCCCCATGTTCTCCAACCTGGCCTCTGACGAGCAGGTGAGTTTTGCTTCCTGGCCCTCTGCTCTCCCGTCCTTCTGGTGGTTCCTGCCCATGAAAGAGAATCCCAGAGCTCAGCAAGGCCTCTGCTGCCCTCCCACTGTTCCTCTCCTCTCCCTAGGACTCGATGCGGCTGCTGGCGGTGGAGGCGTGCGTGAACATCGCCCAGCTTCTGCCCCAGGAGGATCTGGAGGCCCTGGTGATGCCCACTCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCTACATGGTGGCTGACAAGTTCACAGAGGTAGATGAGCGACCGTTGACATTGTCCCACTGGTGGGGACACTGACACTCTCAGAAGGGAAGCATATAGGAGCTGAGGTTTCCATTAGGCCGATGGAACCATTGGGCGTTTGAGCAATAAGATCTCTATGATCATCTAACTGCGTCTCGCTTCGTGTGCCAATCCTGGTTGATTGACATGGCATCTTAAAGTGCTGCCTTGAGAAAGATTCTGAGGCAAAGTTAAGGCTACGTGGAGGAAAGTGCCACAGGAGCAGAGAAGGGTAGCACATGTGGGGTGTTCCTGACATAATCAAGCTGTCCTTTCACAAAGGGGAAGACAGCCCAAAAAGGTGGGGTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTGTCGCCCAGGCTAGAGTCTTGTTACCCAGCTGGAGTGTGGTGGCGCAATCTTGGCTCACTGCAGCCTGTCCCTCCCGGGTGCAGGCATTTCTCCTGCCTCAGCCTCCTGAGGGACTGGGATTACAGATGCCCACCACGACACCCGGCTAGTTTTTGTATTTTTATTAGAGACGGGGTTTCACCATGTTGTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAAGCGATCCGCCTGCCTTCATCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACCGCGCCCAGCCCCGGAAAGTTTAATTAACTGATCAGAGTGACACTACCAGCCAGGCAGAAAGGGGACAAGACTCCAGGTCTGTGACTCTCAGGACAGTGCTCCTTCCACAGGGATCCAGATTGCCTCATCCCACAAACATGTTTGCTGAGCACCAGCTATTTGCTGGGCCAGTGAATTCGGATCATTCCTGGCCTTCATGGAGCTAGGCAGTCTGAAGGGGAAGACTGACTTAGGGGAAATTTGATTATAAAGTGTCACAGGTGTGGGACAGACAGACAGATGTGGGGCCTTGGAAGCATTGAGGAGGGGAGGTGGTGTTACAGCTGGTTCTAGAAGATGAGTGGGTAAGAGCTAAGATAGGAACTTTGTTCCAGCCAGAGGACAAAGAACCCTGGGAGGTGAGAGCAAGTGCAAGCAGGAACATTCAGGCCTGATCTTGATGGCCCAGCCTGAGAGAAAGCAGGAGAGAGGGCAGGGTGGGATCGGAGAGAGGGCAGGGTGGGATCAGAGAGGCCTTGAGTGCCACTCCACCCTGAGGCGCCCTTTGCCTTTAATTATGCTGGTTCCCACTGGCATTTGCGGGAAGGACTCAGAGCTTCAGAATAGCGTACCATCACCACAGTTAGGGAAGGTTCTTCCCATCCTTGTCTCCTGAGCTGCATAAACTGTGTCACACTGGGTCTTAGAATAAAAATTCCATGAGGGCAGGAATTTTAGGCTGTTAAACCAGTTCTTGGCACATAGTAGACATTCAGTAAATATTTGCAAGATGAATAAAAGGCAGTATTTTCCCAAGATATCATGAGGTCCTTCAAGATTTTTACTTGTTCATTCCCGTCTTCATAATGAACTGTCCTGCTTCCTACCAGGTCTTCAGGAACCAGCTTTGCAGCAGGAGCCGTGCGTCTTTCCATGCCTGGTGCCATGAAACAGGCAGGGCCAAGCGTGCCTCCCTTTTTTTTTTTTTTTAAGACAGAGTCTCAGTCTTTTGCCCAGGCTGGAGTACGGTGGCACAAGCTCAGCTGACTGCAACCTCCACCTCCCAGACTCAAGTGATTCTCGTGCCTTAGCCTCCTGAGTAGCTGGAATTACAGGTGTGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGGCCTCAAGTGATCCACCCACCTCTGTCTCCCAAAGCGCTGGGATTACAGGTGTA
Task1_train_27503
A variant was discovered on Chromosome 19, affecting NLRP12 (NLR family pyrin domain containing 12). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Familial cold autoinflammatory syndrome 2
AATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGGACTGTCCTGTGTACTGTAGGATGTTTGCAGCATTCCCGGCCTTTATCCACTAGATGTCAGTAGTATTATTTGCTTCCCAGTTGTGACCACCAAAAACGTGTCTCCAAACATCGCCAAATGTCAGAGCAAAATCACCCCCAGCTGAGAGGCACTGGTTAAGAGCATGAACCTCAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACACAGCGAAACCCCATCTCCACTAAAAATACAAAAATTATCCTGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACACCAGCCTAGGAGACCAAGAGAGACTTAGTTTAAAAAAAAAAAAAAAAAAAAATCGTGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGGTCACGCCAGTGTACTCCAGCCTAGGCAACAGAGCAAAAAAAAAAAAAAAAAAAAAAAACACACGAACCTAAGCAGCCCCAGGGGATACCCCAGGGATACTTACAGCTGCACCAACAGCGTGTGCGCTCCTGCGGAGCACCTCGCGCGGTCTTCCCCGTCCGCGCTGTAGGTGGCGCCATACAAGTGCAGCACCTGGGCGCTCCTGCAGCGCTTCAGACAGAACGAGGAGACCATGTGCTCCATCTTGGAGGCAATGTTGCTGACCACGATCACCTGGAAGTGGCTCAGGGCCTGCTGGATAAACTCCTCCTCCTGGATCTCGTACAAGCAGCTGAAGAACTCCAAGGAGCCCTGCTGCAGGGTGGAGCCGTCGCTCTGAGCTTTGCTTTGGATCCACTGCAACAGGTCCATCTTGATGTGCGGCGAGACCTTCCAGCAGAGACTCTTCTCCAGGTGGCTCCTGGTCTCCTCGTTCAGGAGTCCAAACAGGAAGCGGCTGGTGAGTGCCAGGAAGCTCCTTTCAGAAAACGCGTACTCGGTCAACAGCCTGGTCACGTCCTGGTCTGGGCCTGCCCCGCCCTCCCCCTCGTCCAGGATATAGTACATAGCTGCAAAGAATTCCTGGAAACTCAAGTGGATGAAGCTGTAGTACCTCTCACAGTTGATGTCCTTCTGGAAGATGTTCATGTTGAGGAAGGCAGAGACGTCTTCCCCGTCTAGGCCGTGCTTCCGGAGGTCCTGCTCCTCAAATAGGATTTTCTGATTCCAGAGCCCATCTGCCGCCAAGGAGCACAACCCTCTCTGGTTGGGTGGGGGCTGGAGGCGCGGGGCCCCCGGCTTGGGTTGCATCAGACTCAGCAGGTAGAGCATGTACACTGCAGTGGTGGTCCTGGACGTCTGTCTCAACAGCCCCCCACCCTCCAGCTGCTGCTGGAGGCAGGTACACACCACCCAGCACACCAGGGGGACGAAGCACATGGTGAAGAGAGGCTCGTTGTCCCTCACGTAATTGAAGACTTGGCCCGCCTGCTCTGCATTGTGGAAATACTTGTAGAAGTATTCCTTCCTTTCTGCCTCAGAGAAGCCCAGGATCTCCACATGCCTGGGGTGCTCCAGCAGACGGTGGAGCTTCTCCAAAGCCGTGGGCCGTGTGGTGATGAGCAAAGATAGCTCAGGGAGCAGCTTCTTCCGAATTAAGCTGTTAAGAAGCAGCTCCGTGGGCCGTTTCTCCTCCCAGCAGAGGCACCAGGGTCCCTGAGGATCGTGGAAAGAAGGCTTGAGCTCATCGAAGCCGTCGATGATGAAAAGGAGGCGCTCGGGAACTCGGATGAGCTCCTGGAGAGGCGCGCTGGGCTCAGGCCAGCAGCTGAAGATGAGGTCTTGCATGCTGCATTCCGTGGCACTCTGGTTCATCTCCCTGCAGTTGATGTAGAAGAGATAATCAAATCTGCCTTGGAAGAGCTTCCCGTCCGCCCAGTCCAGCATCACCTTGTGTGCCAGCATGGACTTGCCTATCCCTGCCGCGCCTTGCATGACCACGGTGCGCGGTGGCTCGGGGCGCTCCTCGTCTGGCTCAAAGAGGGTCTCTATCTTGATGGGGCTAGCCTGGTGTCCCACGGTCCTCGCGTGTCCCCGGCCTGTGTCCAGAAGCTGCTGCTGGACCTGCATGGGGTTTGAGTGCTCCTTCACCAGCAGGAGCCGGGTGTACCGGTGGCTGAGGTTGACACATTCCCCTAGGCGCGCATTGCGGTCTTCCATGAGCCGGAATTTCCTGCGGACATAGTCCCTGTAGGTTTCCTGGGGATCTAGGGGAGAGGAATGAAGGTTTTGTGGAAGACTCATCAGCAGCCTCTAATGAGTTCACGAGGTAAAGCGCTCCTCATGTGGCTCAAAGAAGGTGTGTGCCTGTAGTTCCAGCTACTCAGGAGGCTGAGATGGGAGAATCACTTGAACCCCTGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCATCTCAAAAAAAAATTTTTTTTAATTAAAATAATTTATTTGTTTTGAGACTAGGTTATAAGACTGGCTAATTTTTTTTTTTTTTAGATGGAGTCTCGCTCTGTTGCCCAGCTTGGAGTGCAATGGTGTGCTCCCTGCAACATCCACCTCCTGGGTTCAAGTGATTCTCCAGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGATCTGCCCACCTCGGCCTTCCAAAGTGCTAGGATTAGAGGCATGAGCCACTGTGTCCAGCCCCACAAAGTGACTTTCAGCAAAGGATTTATAGAACGGGTACATTACCAGATAGTGCAGACATGAATCTGCCTTTTTTCAAAGGGGGCACAAGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCCAGGTGGGAGGATCGCCTGAACTCAGGAGTTTGAGACCAGCCGGAGCAACATAGTGAGACCCTGTCTCTATAAAAACAAAAGAAAGAGAAAACAAAGGGGGCACAGAAAACTTGGGAGCAGTGCTTCTCAAACTTTTTTTTTTTTTCAGTACAGACAGGGTCTTGCTGTGTTATCCAGGCTGGTCTACAACTACTAGCCTCAAACAATCCTCCTGCCTGAGCCCCGCAAAATGCTGAGATTACAGGCATGAACCACCATGCCTGGCTGTGCTTCTCCAACTTTAAGACGCATACATATCATGCAGCAATCTTGTTAGAAATGCAGTCCCTGGGCTAAGTGCAGTGGCTCACACCTGTAAGAGATCGCCCCACTGCACTCCAGCCTGGGCGACAGCGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAATCTAGAACAATGTTCTTAATTGGGGTGACTGTGTCCCCTAGTTCCCCAGGGGACATTTGGCAACGGGACAAGTGGGTTGGTTGTTACAACTGGGAAAGTACTACTGCCACATAGTGGATAGAGGCCAGAGGTGCTGCTCAACATCCCAGGAACCACAGGACGACCCCATAGCAAAGAACGCTCTGGCCCCGAAATGCCAACAGTGCCAATGTGGAGAAACCCTGGTCTGGATACAAATGCATCCCTTGGTATTGGATGCCAGCAGAGGCCCATGATAGCTGCCTGAGAGAAGCTTAAAAAAAAGAATCTGAGTTTGATACTAAAATTTTCAAAACAAATATGTGTACTTTTAATTATAGTGACATACACATAAAATTTACCATTTTAACCACTT
AATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGGACTGTCCTGTGTACTGTAGGATGTTTGCAGCATTCCCGGCCTTTATCCACTAGATGTCAGTAGTATTATTTGCTTCCCAGTTGTGACCACCAAAAACGTGTCTCCAAACATCGCCAAATGTCAGAGCAAAATCACCCCCAGCTGAGAGGCACTGGTTAAGAGCATGAACCTCAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACACAGCGAAACCCCATCTCCACTAAAAATACAAAAATTATCCTGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACACCAGCCTAGGAGACCAAGAGAGACTTAGTTTAAAAAAAAAAAAAAAAAAAAATCGTGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGGTCACGCCAGTGTACTCCAGCCTAGGCAACAGAGCAAAAAAAAAAAAAAAAAAAAAAAACACACGAACCTAAGCAGCCCCAGGGGATACCCCAGGGATACTTACAGCTGCACCAACAGCGTGTGCGCTCCTGCGGAGCACCTCGCGCGGTCTTCCCCGTCCGCGCTGTAGGTGGCGCCATACAAGTGCAGCACCTGGGCGCTCCTGCAGCGCTTCAGACAGAACGAGGAGACCATGTGCTCCATCTTGGAGGCAATGTTGCTGACCACGATCACCTGGAAGTGGCTCAGGGCCTGCTGGATAAACTCCTCCTCCTGGATCTCGTACAAGCAGCTGAAGAACTCCAAGGAGCCCTGCTGCAGGGTGGAGCCGTCGCTCTGAGCTTTGCTTTGGATCCACTGCAACAGGTCCATCTTGATGTGCGGCGAGACCTTCCAGCAGAGACTCTTCTCCAGGTGGCTCCTGGTCTCCTCGTTCAGGAGTCCAAACAGGAAGCGGCTGGTGAGTGCCAGGAAGCTCCTTTCAGAAAACGCGTACTCGGTCAACAGCCTGGTCACGTCCTGGTCTGGGCCTGCCCCGCCCTCCCCCTCGTCCAGGATATAGTACATAGCTGCAAAGAATTCCTGGAAACTCAAGTGGATGAAGCTGTAGTACCTCTCACAGTTGATGTCCTTCTGGAAGATGTTCATGTTGAGGAAGGCAGAGACGTCTTCCCCGTCTAGGCCGTGCTTCCGGAGGTCCTGCTCCTCAAATAGGATTTTCTGATTCCAGAGCCCATCTGCCGCCAAGGAGCACAACCCTCTCTGGTTGGGTGGGGGCTGGAGGCGCGGGGCCCCCGGCTTGGGTTGCATCAGACTCAGCAGGTAGAGCATGTACACTGCAGTGGTGGTCCTGGACGTCTGTCTCAACAGCCCCCCACCCTCCAGCTGCTGCTGGAGGCAGGTACACACCACCCAGCACACCAGGGGGACGAAGCACATGGTGAAGAGAGGCTCGTTGTCCCTCACGTAATTGAAGACTTGGCCCGCCTGCTCTGCATTGTGGAAATACTTGTAGAAGTATTCCTTCCTTTCTGCCTCAGAGAAGCCCAGGATCTCCACATGCCTGGGGTGCTCCAGCAGACGGTGGAGCTTCTCCAAAGCCGTGGGCCGTGTGGTGATGAGCAAAGATAGCTCAGGGAGCAGCTTCTTCCGAATTAAGCTGTTAAGAAGCAGCTCCGTGGGCCGTTTCTCCTCCCAGCAGAGGCACCAGGGTCCCTGAGGATCGTGGAAAGAAGGCTTGAGCTCATCGAAGCCCTCGATGATGAAAAGGAGGCGCTCGGGAACTCGGATGAGCTCCTGGAGAGGCGCGCTGGGCTCAGGCCAGCAGCTGAAGATGAGGTCTTGCATGCTGCATTCCGTGGCACTCTGGTTCATCTCCCTGCAGTTGATGTAGAAGAGATAATCAAATCTGCCTTGGAAGAGCTTCCCGTCCGCCCAGTCCAGCATCACCTTGTGTGCCAGCATGGACTTGCCTATCCCTGCCGCGCCTTGCATGACCACGGTGCGCGGTGGCTCGGGGCGCTCCTCGTCTGGCTCAAAGAGGGTCTCTATCTTGATGGGGCTAGCCTGGTGTCCCACGGTCCTCGCGTGTCCCCGGCCTGTGTCCAGAAGCTGCTGCTGGACCTGCATGGGGTTTGAGTGCTCCTTCACCAGCAGGAGCCGGGTGTACCGGTGGCTGAGGTTGACACATTCCCCTAGGCGCGCATTGCGGTCTTCCATGAGCCGGAATTTCCTGCGGACATAGTCCCTGTAGGTTTCCTGGGGATCTAGGGGAGAGGAATGAAGGTTTTGTGGAAGACTCATCAGCAGCCTCTAATGAGTTCACGAGGTAAAGCGCTCCTCATGTGGCTCAAAGAAGGTGTGTGCCTGTAGTTCCAGCTACTCAGGAGGCTGAGATGGGAGAATCACTTGAACCCCTGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCATCTCAAAAAAAAATTTTTTTTAATTAAAATAATTTATTTGTTTTGAGACTAGGTTATAAGACTGGCTAATTTTTTTTTTTTTTAGATGGAGTCTCGCTCTGTTGCCCAGCTTGGAGTGCAATGGTGTGCTCCCTGCAACATCCACCTCCTGGGTTCAAGTGATTCTCCAGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGATCTGCCCACCTCGGCCTTCCAAAGTGCTAGGATTAGAGGCATGAGCCACTGTGTCCAGCCCCACAAAGTGACTTTCAGCAAAGGATTTATAGAACGGGTACATTACCAGATAGTGCAGACATGAATCTGCCTTTTTTCAAAGGGGGCACAAGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCCAGGTGGGAGGATCGCCTGAACTCAGGAGTTTGAGACCAGCCGGAGCAACATAGTGAGACCCTGTCTCTATAAAAACAAAAGAAAGAGAAAACAAAGGGGGCACAGAAAACTTGGGAGCAGTGCTTCTCAAACTTTTTTTTTTTTTCAGTACAGACAGGGTCTTGCTGTGTTATCCAGGCTGGTCTACAACTACTAGCCTCAAACAATCCTCCTGCCTGAGCCCCGCAAAATGCTGAGATTACAGGCATGAACCACCATGCCTGGCTGTGCTTCTCCAACTTTAAGACGCATACATATCATGCAGCAATCTTGTTAGAAATGCAGTCCCTGGGCTAAGTGCAGTGGCTCACACCTGTAAGAGATCGCCCCACTGCACTCCAGCCTGGGCGACAGCGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAATCTAGAACAATGTTCTTAATTGGGGTGACTGTGTCCCCTAGTTCCCCAGGGGACATTTGGCAACGGGACAAGTGGGTTGGTTGTTACAACTGGGAAAGTACTACTGCCACATAGTGGATAGAGGCCAGAGGTGCTGCTCAACATCCCAGGAACCACAGGACGACCCCATAGCAAAGAACGCTCTGGCCCCGAAATGCCAACAGTGCCAATGTGGAGAAACCCTGGTCTGGATACAAATGCATCCCTTGGTATTGGATGCCAGCAGAGGCCCATGATAGCTGCCTGAGAGAAGCTTAAAAAAAAGAATCTGAGTTTGATACTAAAATTTTCAAAACAAATATGTGTACTTTTAATTATAGTGACATACACATAAAATTTACCATTTTAACCACTT
Task1_train_27504
A change on Chromosome 19 affects gene PRKCG (protein kinase C gamma). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Spinocerebellar ataxia type 14
AGATTCAGAGAGTCAGAGAGACATAGAAAGACATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGATTTATAGAGCCAGAGACACAGATTCAGGGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGATTCAGAGTCAGAGAGACATAGACATTCATAGAGCCAGAGACACAGATTCAGAGAGTCAGAGAGATGAATAGATTCAGAGAGCCAGAGACACAGGGAGAGTGAATCACAGACACAGAGGGACGGGGAGATCCCCAGAAACAGAAAGAGATTCATAGAGCCAGAGAGACAAATAGAGATTGGGTCAGAGAGAAAGGGACAGAGACAGAGACAGAGAAGAGAAGAGGGAGAGAGATTGGGTCAGAGAGAAAGGGACAGAGACAGAGAAGAGAAGAGGGAGAGAGAGACTGAGTCATAGACAGGAGAGAGACCCCCCTAGCATCAGAGAGAGAGAGAGAGATCAACAGAGCCAGAGAGGGACAAGTACAGAGAAACAGATGGAACCAGAGAGATATAGGAAGAGACAAACAAAAACAGAGACGGAGTTGCAGAACCGGAGGAAGGGAGAGAGACAGAGACAAAGGCATTTATAAAGACGGGTGGAGGTGAGGAGAGAGAGGGAGAGACAGGGGCAAGCATTTAGAGAGTGACTCCCAGAGAGGAAGACAGAGACGGACTCCCAAAGAGATCAAGTTGCAGAGGGAGGGGGAGACAGAGTCACAGCCTGAGAGAGAATAGAGATTCACAGAGCCAGAGAGACAAAGACAGGGAAAGAAACAAACTCAGGGAGACAGAGGCGGAAGAATTTATCAGACGTAGAGGGAGAGACAGAGGGAGACTGATTCACAGTGAGGCAGACCAAGACCCCGAGAAGAACCACGACACCAAGACCCAGAGATGGCGACAGATACAGATGGAGACACACAGCAGAGGAAATAGAGAAATAGAAAGAAATAGAAACAGCATTTCTCGGAGACAGGGAAAAGAAAACAGATCCACTGAGAGGCAGAAACAGAGACACATCGAGAAAGCTCGCTCCAGGAATAGAGGGAGAGGGACAGAGGTCACAAGAAAGACACACGCAGGCAGAGAGCTACACAAATAATGGAGAGGCCAGGGGAGGAAATAAAGACTCAGCCGGCATCGGAGAAAGTGAGAACCTTAGCGCCCTGCCTGTCCACTGCTGGACCCCTAGCGTGGAGCATAAAGTTTGTTGAAGGAAGGAGAGGGGCAGGGTCAGACACAGGGACCCCAGGGCGCCCACAGGACACACGAGGCACCCTAGTGGGGGAGGAACGCGGGGCAGGATGACAGATTGCAGGGTGGTGGGGGGGAGCCAGGCTCAGAGGATGCCCCTCCCTCCAGCCAGCCCCCGGAGTGGGTGTGTGCACGTGTGGGGGGCGGGGAGGGAGGACATTTGTCCCGTGTCTCCGGGAGGGGAGCGCCTTTAAGCCGAAACCCCGCCCTCTCGGTCGTCCTGGCAACGCCTCCCCCAACCCGGGGCTCCCACATTTCAGCAGGTGCCGGAGCTGGAGCTCCCACCGCCGCCGCCCGTGCCTCCGGCTGCCGGCGCCCCTGCCTTTGGCTCTTCCTCCCCACTCGCCCGCTCCCCCTGGCGGAGCCGGCGCGCCCGGGGTGCCGCTCCCTGCCTGGCGCGCTCCGCACCTGGAGGTGCCTTGCCCCTCTCCTGCCCACCTCGGAATTTCCCTGTGGCTCCTTTGATCCTTCGAGTCTCCAGCTCCTCTCCCTTCCACCTGTTTCCCCCAAGAAAGGCAGGATCCTGGTCCCTGCTACGTTTCTGGGGCCATGGCTGGTCTGGGCCCCGGCGTAGGCGATTCAGAGGGGGGACCCCGGCCCCTGTTTTGCAGAAAGGGGGCCCTGAGGCAGAAGGTGGTCCACGAAGTCAAGAGCCACAAGTTCACCGCTCGCTTCTTCAAGCAGCCCACCTTCTGCAGCCACTGCACCGACTTCATCTGGTGAGGGAAGGGGGCTGGGGGACTGGGGGACGAGGGGACTAGGGGTGCAGACTCCTATCACGCCGACCCCTGTGGAAGGAAGAAGGAGGGGGCTGTAGTCCCGACTCCCAGGTTCTAGGATGGCCAGGGAACGCTGGGAGCTTCGACTCCTGGGTTTCAGTGAGGAGGAGGCTGGTTCCTGGAGTGCTGGGTCCGAGGGAGGAGGAGGCTGGAGGACAGAGGTCCTGGAGTCTTGGGTCTGAGGGAGGAAGGGCCTGGGGGGCTGGGAGCCTGGATTCCTGGGTCTGAAGGAGGAAGAAACTGGGGGCTGAACTCCAGTCTAAGGGAAGAAGGGCTGGGGGCCAAAATTTCTGGGTTCTAGAAAGAGGAGGTGGCCGGGGCTTGGACACCTGGGCCCTGCGGGAGGAGGGTCAGAGAGCGCAGGCCCCCTGTGGCTCGCAGAGGTTGGGGGTCCAGGTACCCCTTTCTGCACTGACCTAGGATCCCTGACTCTTCCAGGGGTATCGGAAAGCAGGGCCTGCAATGTCAAGGTAAGAGCTGGGGACCGGGGCTCCTGGGACCCTCAGGAGGGTGGAGGCTGGGGCCCCACAGCTGAGGCTGCTTGACACACGTGTTCTCTGGTCCCCAGAGAGGCGCGGGGGAGCCCGGGGCGGGGGGTGTGGCAGAGACACAGCCTGTGGTGGGGAGGGAGCTTTGATGGTGGGGCCACCGCGGAGGTGGTGCTGGGGGCCCCTCCCTCGGCCGGCTCCAGGTGGGGACAGATATTTGGAGAATCTGTTGCCATGGGAACATGGAGATTTGGAAAAGGGGAGCTGAAGGGGGGAAGGGGGAGGGGGCTGGAGATGCAAAGTCAGAGCCCCCCCCCACCCCAGGCTGCCGTCGCCATGACAACACCAGCCGTCCTAGGCAGGGGCAGGCCGGGTGGGGTCACCAATGGGCGAGTGGGGGCCGGGCGGGGCCGGCAGTTCTGGGGGGCGGGAGAGGGGGGCGAGTCCTTGAGCACCAGCTGCTACTGCTGAGAACAGAGTGAGTCAGGGTGGGGGGCGGGCCGGCAGCAGCGCCCCCAGACTCACTTCTGCCCAAGTTGCTGCTTCCTGGGCTGCGTCTGAAGATATTTCGGTTTTCGCTCTTTGAATCTGTCTGCCTCTCTCCTGGCTTTCTGATCTCCGTCCGTGGGCCTGTGTCTGTTTGTCAATGGGATCCTATTTTCTTTCTCTCTTTTTCCATCTCCCTTCCCTGAGCTCTGTGCTCTGTGTCTCTCTGTAAGTCTCTGCGTCTCTGTTTCTGACTCTGAGCCCATCTCTTGGGTTTCTGTCTCCTGCTTCTCTCTCTGGCCTCCGATTTTCTCTCTGTTGGACTCTCTGTGTTGAGATCCCTCTCTTTCTGGTTTTCTCAGTGTCCGAGTTCCGCTCTCTCTTTCCAATTTTCTGTCTGCTGGGGTCTCCCGCTGGACTAATCCATGCCTCCGTCTGTGTCTCTATGATTTTCATCTATAGTCTGCAGCTTTGTGGTTCATCGACGATGCCACGAATTTGTGACCTTCGAGTGTCCAGGCGCTGGGAAGGGCCCCCAGACGGACGTGAGTGCTCGGACACCTGGTTCTCCTCCTCGGGCCGTGCCCCCGCCCTCACCCCCTCGGCGTCCGTCCCAATTTCTCCTGCTATTTTTATGGCTGGGAGGGGAGGGGGGCTGGAGAGATAGGGGGAGCTATCTGGCCCAGATTCCTTGCCCTTGGCCTGGAAAGGGGGAATGCGAGGGGGACTGACAGGCTGGGGACACGGGTGGGGCACAGAGAGGAGGCCGGGGTGAGGAGACTGAAGATGGGTGCTGCCGGGGGTGGGCTGTGATCCAGGGGTGAAGGGATTTAAAAATTGAGAGCTGAGGGGCACACGGAGAAAAATATCAGTGCAGGTGCGGAGATGCCAACATAAGACAGAGGGAATCTCAGGGAGAGGAACAGAGACAGAAGAAGACAGAGACCTAG
AGATTCAGAGAGTCAGAGAGACATAGAAAGACATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGATTTATAGAGCCAGAGACACAGATTCAGGGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGATTCAGAGTCAGAGAGACATAGACATTCATAGAGCCAGAGACACAGATTCAGAGAGTCAGAGAGATGAATAGATTCAGAGAGCCAGAGACACAGGGAGAGTGAATCACAGACACAGAGGGACGGGGAGATCCCCAGAAACAGAAAGAGATTCATAGAGCCAGAGAGACAAATAGAGATTGGGTCAGAGAGAAAGGGACAGAGACAGAGACAGAGAAGAGAAGAGGGAGAGAGATTGGGTCAGAGAGAAAGGGACAGAGACAGAGAAGAGAAGAGGGAGAGAGAGACTGAGTCATAGACAGGAGAGAGACCCCCCTAGCATCAGAGAGAGAGAGAGAGATCAACAGAGCCAGAGAGGGACAAGTACAGAGAAACAGATGGAACCAGAGAGATATAGGAAGAGACAAACAAAAACAGAGACGGAGTTGCAGAACCGGAGGAAGGGAGAGAGACAGAGACAAAGGCATTTATAAAGACGGGTGGAGGTGAGGAGAGAGAGGGAGAGACAGGGGCAAGCATTTAGAGAGTGACTCCCAGAGAGGAAGACAGAGACGGACTCCCAAAGAGATCAAGTTGCAGAGGGAGGGGGAGACAGAGTCACAGCCTGAGAGAGAATAGAGATTCACAGAGCCAGAGAGACAAAGACAGGGAAAGAAACAAACTCAGGGAGACAGAGGCGGAAGAATTTATCAGACGTAGAGGGAGAGACAGAGGGAGACTGATTCACAGTGAGGCAGACCAAGACCCCGAGAAGAACCACGACACCAAGACCCAGAGATGGCGACAGATACAGATGGAGACACACAGCAGAGGAAATAGAGAAATAGAAAGAAATAGAAACAGCATTTCTCGGAGACAGGGAAAAGAAAACAGATCCACTGAGAGGCAGAAACAGAGACACATCGAGAAAGCTCGCTCCAGGAATAGAGGGAGAGGGACAGAGGTCACAAGAAAGACACACGCAGGCAGAGAGCTACACAAATAATGGAGAGGCCAGGGGAGGAAATAAAGACTCAGCCGGCATCGGAGAAAGTGAGAACCTTAGCGCCCTGCCTGTCCACTGCTGGACCCCTAGCGTGGAGCATAAAGTTTGTTGAAGGAAGGAGAGGGGCAGGGTCAGACACAGGGACCCCAGGGCGCCCACAGGACACACGAGGCACCCTAGTGGGGGAGGAACGCGGGGCAGGATGACAGATTGCAGGGTGGTGGGGGGGAGCCAGGCTCAGAGGATGCCCCTCCCTCCAGCCAGCCCCCGGAGTGGGTGTGTGCACGTGTGGGGGGCGGGGAGGGAGGACATTTGTCCCGTGTCTCCGGGAGGGGAGCGCCTTTAAGCCGAAACCCCGCCCTCTCGGTCGTCCTGGCAACGCCTCCCCCAACCCGGGGCTCCCACATTTCAGCAGGTGCCGGAGCTGGAGCTCCCACCGCCGCCGCCCGTGCCTCCGGCTGCCGGCGCCCCTGCCTTTGGCTCTTCCTCCCCACTCGCCCGCTCCCCCTGGCGGAGCCGGCGCGCCCGGGGTGCCGCTCCCTGCCTGGCGCGCTCCGCACCTGGAGGTGCCTTGCCCCTCTCCTGCCCACCTCGGAATTTCCCTGTGGCTCCTTTGATCCTTCGAGTCTCCAGCTCCTCTCCCTTCCACCTGTTTCCCCCAAGAAAGGCAGGATCCTGGTCCCTGCTACGTTTCTGGGGCCATGGCTGGTCTGGGCCCCGGCGTAGGCGATTCAGAGGGGGGACCCCGGCCCCTGTTTTGCAGAAAGGGGGCCCTGAGGCAGAAGGTGGTCCACGAAGTCAAGAGCCGCAAGTTCACCGCTCGCTTCTTCAAGCAGCCCACCTTCTGCAGCCACTGCACCGACTTCATCTGGTGAGGGAAGGGGGCTGGGGGACTGGGGGACGAGGGGACTAGGGGTGCAGACTCCTATCACGCCGACCCCTGTGGAAGGAAGAAGGAGGGGGCTGTAGTCCCGACTCCCAGGTTCTAGGATGGCCAGGGAACGCTGGGAGCTTCGACTCCTGGGTTTCAGTGAGGAGGAGGCTGGTTCCTGGAGTGCTGGGTCCGAGGGAGGAGGAGGCTGGAGGACAGAGGTCCTGGAGTCTTGGGTCTGAGGGAGGAAGGGCCTGGGGGGCTGGGAGCCTGGATTCCTGGGTCTGAAGGAGGAAGAAACTGGGGGCTGAACTCCAGTCTAAGGGAAGAAGGGCTGGGGGCCAAAATTTCTGGGTTCTAGAAAGAGGAGGTGGCCGGGGCTTGGACACCTGGGCCCTGCGGGAGGAGGGTCAGAGAGCGCAGGCCCCCTGTGGCTCGCAGAGGTTGGGGGTCCAGGTACCCCTTTCTGCACTGACCTAGGATCCCTGACTCTTCCAGGGGTATCGGAAAGCAGGGCCTGCAATGTCAAGGTAAGAGCTGGGGACCGGGGCTCCTGGGACCCTCAGGAGGGTGGAGGCTGGGGCCCCACAGCTGAGGCTGCTTGACACACGTGTTCTCTGGTCCCCAGAGAGGCGCGGGGGAGCCCGGGGCGGGGGGTGTGGCAGAGACACAGCCTGTGGTGGGGAGGGAGCTTTGATGGTGGGGCCACCGCGGAGGTGGTGCTGGGGGCCCCTCCCTCGGCCGGCTCCAGGTGGGGACAGATATTTGGAGAATCTGTTGCCATGGGAACATGGAGATTTGGAAAAGGGGAGCTGAAGGGGGGAAGGGGGAGGGGGCTGGAGATGCAAAGTCAGAGCCCCCCCCCACCCCAGGCTGCCGTCGCCATGACAACACCAGCCGTCCTAGGCAGGGGCAGGCCGGGTGGGGTCACCAATGGGCGAGTGGGGGCCGGGCGGGGCCGGCAGTTCTGGGGGGCGGGAGAGGGGGGCGAGTCCTTGAGCACCAGCTGCTACTGCTGAGAACAGAGTGAGTCAGGGTGGGGGGCGGGCCGGCAGCAGCGCCCCCAGACTCACTTCTGCCCAAGTTGCTGCTTCCTGGGCTGCGTCTGAAGATATTTCGGTTTTCGCTCTTTGAATCTGTCTGCCTCTCTCCTGGCTTTCTGATCTCCGTCCGTGGGCCTGTGTCTGTTTGTCAATGGGATCCTATTTTCTTTCTCTCTTTTTCCATCTCCCTTCCCTGAGCTCTGTGCTCTGTGTCTCTCTGTAAGTCTCTGCGTCTCTGTTTCTGACTCTGAGCCCATCTCTTGGGTTTCTGTCTCCTGCTTCTCTCTCTGGCCTCCGATTTTCTCTCTGTTGGACTCTCTGTGTTGAGATCCCTCTCTTTCTGGTTTTCTCAGTGTCCGAGTTCCGCTCTCTCTTTCCAATTTTCTGTCTGCTGGGGTCTCCCGCTGGACTAATCCATGCCTCCGTCTGTGTCTCTATGATTTTCATCTATAGTCTGCAGCTTTGTGGTTCATCGACGATGCCACGAATTTGTGACCTTCGAGTGTCCAGGCGCTGGGAAGGGCCCCCAGACGGACGTGAGTGCTCGGACACCTGGTTCTCCTCCTCGGGCCGTGCCCCCGCCCTCACCCCCTCGGCGTCCGTCCCAATTTCTCCTGCTATTTTTATGGCTGGGAGGGGAGGGGGGCTGGAGAGATAGGGGGAGCTATCTGGCCCAGATTCCTTGCCCTTGGCCTGGAAAGGGGGAATGCGAGGGGGACTGACAGGCTGGGGACACGGGTGGGGCACAGAGAGGAGGCCGGGGTGAGGAGACTGAAGATGGGTGCTGCCGGGGGTGGGCTGTGATCCAGGGGTGAAGGGATTTAAAAATTGAGAGCTGAGGGGCACACGGAGAAAAATATCAGTGCAGGTGCGGAGATGCCAACATAAGACAGAGGGAATCTCAGGGAGAGGAACAGAGACAGAAGAAGACAGAGACCTAG
Task1_train_27505
A variant was discovered in gene PRKCG (protein kinase C gamma), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; not provided
GAGAGACATAGAAAGACATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGATTTATAGAGCCAGAGACACAGATTCAGGGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGATTCAGAGTCAGAGAGACATAGACATTCATAGAGCCAGAGACACAGATTCAGAGAGTCAGAGAGATGAATAGATTCAGAGAGCCAGAGACACAGGGAGAGTGAATCACAGACACAGAGGGACGGGGAGATCCCCAGAAACAGAAAGAGATTCATAGAGCCAGAGAGACAAATAGAGATTGGGTCAGAGAGAAAGGGACAGAGACAGAGACAGAGAAGAGAAGAGGGAGAGAGATTGGGTCAGAGAGAAAGGGACAGAGACAGAGAAGAGAAGAGGGAGAGAGAGACTGAGTCATAGACAGGAGAGAGACCCCCCTAGCATCAGAGAGAGAGAGAGAGATCAACAGAGCCAGAGAGGGACAAGTACAGAGAAACAGATGGAACCAGAGAGATATAGGAAGAGACAAACAAAAACAGAGACGGAGTTGCAGAACCGGAGGAAGGGAGAGAGACAGAGACAAAGGCATTTATAAAGACGGGTGGAGGTGAGGAGAGAGAGGGAGAGACAGGGGCAAGCATTTAGAGAGTGACTCCCAGAGAGGAAGACAGAGACGGACTCCCAAAGAGATCAAGTTGCAGAGGGAGGGGGAGACAGAGTCACAGCCTGAGAGAGAATAGAGATTCACAGAGCCAGAGAGACAAAGACAGGGAAAGAAACAAACTCAGGGAGACAGAGGCGGAAGAATTTATCAGACGTAGAGGGAGAGACAGAGGGAGACTGATTCACAGTGAGGCAGACCAAGACCCCGAGAAGAACCACGACACCAAGACCCAGAGATGGCGACAGATACAGATGGAGACACACAGCAGAGGAAATAGAGAAATAGAAAGAAATAGAAACAGCATTTCTCGGAGACAGGGAAAAGAAAACAGATCCACTGAGAGGCAGAAACAGAGACACATCGAGAAAGCTCGCTCCAGGAATAGAGGGAGAGGGACAGAGGTCACAAGAAAGACACACGCAGGCAGAGAGCTACACAAATAATGGAGAGGCCAGGGGAGGAAATAAAGACTCAGCCGGCATCGGAGAAAGTGAGAACCTTAGCGCCCTGCCTGTCCACTGCTGGACCCCTAGCGTGGAGCATAAAGTTTGTTGAAGGAAGGAGAGGGGCAGGGTCAGACACAGGGACCCCAGGGCGCCCACAGGACACACGAGGCACCCTAGTGGGGGAGGAACGCGGGGCAGGATGACAGATTGCAGGGTGGTGGGGGGGAGCCAGGCTCAGAGGATGCCCCTCCCTCCAGCCAGCCCCCGGAGTGGGTGTGTGCACGTGTGGGGGGCGGGGAGGGAGGACATTTGTCCCGTGTCTCCGGGAGGGGAGCGCCTTTAAGCCGAAACCCCGCCCTCTCGGTCGTCCTGGCAACGCCTCCCCCAACCCGGGGCTCCCACATTTCAGCAGGTGCCGGAGCTGGAGCTCCCACCGCCGCCGCCCGTGCCTCCGGCTGCCGGCGCCCCTGCCTTTGGCTCTTCCTCCCCACTCGCCCGCTCCCCCTGGCGGAGCCGGCGCGCCCGGGGTGCCGCTCCCTGCCTGGCGCGCTCCGCACCTGGAGGTGCCTTGCCCCTCTCCTGCCCACCTCGGAATTTCCCTGTGGCTCCTTTGATCCTTCGAGTCTCCAGCTCCTCTCCCTTCCACCTGTTTCCCCCAAGAAAGGCAGGATCCTGGTCCCTGCTACGTTTCTGGGGCCATGGCTGGTCTGGGCCCCGGCGTAGGCGATTCAGAGGGGGGACCCCGGCCCCTGTTTTGCAGAAAGGGGGCCCTGAGGCAGAAGGTGGTCCACGAAGTCAAGAGCCACAAGTTCACCGCTCGCTTCTTCAAGCAGCCCACCTTCTGCAGCCACTGCACCGACTTCATCTGGTGAGGGAAGGGGGCTGGGGGACTGGGGGACGAGGGGACTAGGGGTGCAGACTCCTATCACGCCGACCCCTGTGGAAGGAAGAAGGAGGGGGCTGTAGTCCCGACTCCCAGGTTCTAGGATGGCCAGGGAACGCTGGGAGCTTCGACTCCTGGGTTTCAGTGAGGAGGAGGCTGGTTCCTGGAGTGCTGGGTCCGAGGGAGGAGGAGGCTGGAGGACAGAGGTCCTGGAGTCTTGGGTCTGAGGGAGGAAGGGCCTGGGGGGCTGGGAGCCTGGATTCCTGGGTCTGAAGGAGGAAGAAACTGGGGGCTGAACTCCAGTCTAAGGGAAGAAGGGCTGGGGGCCAAAATTTCTGGGTTCTAGAAAGAGGAGGTGGCCGGGGCTTGGACACCTGGGCCCTGCGGGAGGAGGGTCAGAGAGCGCAGGCCCCCTGTGGCTCGCAGAGGTTGGGGGTCCAGGTACCCCTTTCTGCACTGACCTAGGATCCCTGACTCTTCCAGGGGTATCGGAAAGCAGGGCCTGCAATGTCAAGGTAAGAGCTGGGGACCGGGGCTCCTGGGACCCTCAGGAGGGTGGAGGCTGGGGCCCCACAGCTGAGGCTGCTTGACACACGTGTTCTCTGGTCCCCAGAGAGGCGCGGGGGAGCCCGGGGCGGGGGGTGTGGCAGAGACACAGCCTGTGGTGGGGAGGGAGCTTTGATGGTGGGGCCACCGCGGAGGTGGTGCTGGGGGCCCCTCCCTCGGCCGGCTCCAGGTGGGGACAGATATTTGGAGAATCTGTTGCCATGGGAACATGGAGATTTGGAAAAGGGGAGCTGAAGGGGGGAAGGGGGAGGGGGCTGGAGATGCAAAGTCAGAGCCCCCCCCCACCCCAGGCTGCCGTCGCCATGACAACACCAGCCGTCCTAGGCAGGGGCAGGCCGGGTGGGGTCACCAATGGGCGAGTGGGGGCCGGGCGGGGCCGGCAGTTCTGGGGGGCGGGAGAGGGGGGCGAGTCCTTGAGCACCAGCTGCTACTGCTGAGAACAGAGTGAGTCAGGGTGGGGGGCGGGCCGGCAGCAGCGCCCCCAGACTCACTTCTGCCCAAGTTGCTGCTTCCTGGGCTGCGTCTGAAGATATTTCGGTTTTCGCTCTTTGAATCTGTCTGCCTCTCTCCTGGCTTTCTGATCTCCGTCCGTGGGCCTGTGTCTGTTTGTCAATGGGATCCTATTTTCTTTCTCTCTTTTTCCATCTCCCTTCCCTGAGCTCTGTGCTCTGTGTCTCTCTGTAAGTCTCTGCGTCTCTGTTTCTGACTCTGAGCCCATCTCTTGGGTTTCTGTCTCCTGCTTCTCTCTCTGGCCTCCGATTTTCTCTCTGTTGGACTCTCTGTGTTGAGATCCCTCTCTTTCTGGTTTTCTCAGTGTCCGAGTTCCGCTCTCTCTTTCCAATTTTCTGTCTGCTGGGGTCTCCCGCTGGACTAATCCATGCCTCCGTCTGTGTCTCTATGATTTTCATCTATAGTCTGCAGCTTTGTGGTTCATCGACGATGCCACGAATTTGTGACCTTCGAGTGTCCAGGCGCTGGGAAGGGCCCCCAGACGGACGTGAGTGCTCGGACACCTGGTTCTCCTCCTCGGGCCGTGCCCCCGCCCTCACCCCCTCGGCGTCCGTCCCAATTTCTCCTGCTATTTTTATGGCTGGGAGGGGAGGGGGGCTGGAGAGATAGGGGGAGCTATCTGGCCCAGATTCCTTGCCCTTGGCCTGGAAAGGGGGAATGCGAGGGGGACTGACAGGCTGGGGACACGGGTGGGGCACAGAGAGGAGGCCGGGGTGAGGAGACTGAAGATGGGTGCTGCCGGGGGTGGGCTGTGATCCAGGGGTGAAGGGATTTAAAAATTGAGAGCTGAGGGGCACACGGAGAAAAATATCAGTGCAGGTGCGGAGATGCCAACATAAGACAGAGGGAATCTCAGGGAGAGGAACAGAGACAGAAGAAGACAGAGACCTAGGAGAGACTGAAGCTG
GAGAGACATAGAAAGACATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGATTTATAGAGCCAGAGACACAGATTCAGGGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGATTCAGAGTCAGAGAGACATAGACATTCATAGAGCCAGAGACACAGATTCAGAGAGTCAGAGAGATGAATAGATTCAGAGAGCCAGAGACACAGGGAGAGTGAATCACAGACACAGAGGGACGGGGAGATCCCCAGAAACAGAAAGAGATTCATAGAGCCAGAGAGACAAATAGAGATTGGGTCAGAGAGAAAGGGACAGAGACAGAGACAGAGAAGAGAAGAGGGAGAGAGATTGGGTCAGAGAGAAAGGGACAGAGACAGAGAAGAGAAGAGGGAGAGAGAGACTGAGTCATAGACAGGAGAGAGACCCCCCTAGCATCAGAGAGAGAGAGAGAGATCAACAGAGCCAGAGAGGGACAAGTACAGAGAAACAGATGGAACCAGAGAGATATAGGAAGAGACAAACAAAAACAGAGACGGAGTTGCAGAACCGGAGGAAGGGAGAGAGACAGAGACAAAGGCATTTATAAAGACGGGTGGAGGTGAGGAGAGAGAGGGAGAGACAGGGGCAAGCATTTAGAGAGTGACTCCCAGAGAGGAAGACAGAGACGGACTCCCAAAGAGATCAAGTTGCAGAGGGAGGGGGAGACAGAGTCACAGCCTGAGAGAGAATAGAGATTCACAGAGCCAGAGAGACAAAGACAGGGAAAGAAACAAACTCAGGGAGACAGAGGCGGAAGAATTTATCAGACGTAGAGGGAGAGACAGAGGGAGACTGATTCACAGTGAGGCAGACCAAGACCCCGAGAAGAACCACGACACCAAGACCCAGAGATGGCGACAGATACAGATGGAGACACACAGCAGAGGAAATAGAGAAATAGAAAGAAATAGAAACAGCATTTCTCGGAGACAGGGAAAAGAAAACAGATCCACTGAGAGGCAGAAACAGAGACACATCGAGAAAGCTCGCTCCAGGAATAGAGGGAGAGGGACAGAGGTCACAAGAAAGACACACGCAGGCAGAGAGCTACACAAATAATGGAGAGGCCAGGGGAGGAAATAAAGACTCAGCCGGCATCGGAGAAAGTGAGAACCTTAGCGCCCTGCCTGTCCACTGCTGGACCCCTAGCGTGGAGCATAAAGTTTGTTGAAGGAAGGAGAGGGGCAGGGTCAGACACAGGGACCCCAGGGCGCCCACAGGACACACGAGGCACCCTAGTGGGGGAGGAACGCGGGGCAGGATGACAGATTGCAGGGTGGTGGGGGGGAGCCAGGCTCAGAGGATGCCCCTCCCTCCAGCCAGCCCCCGGAGTGGGTGTGTGCACGTGTGGGGGGCGGGGAGGGAGGACATTTGTCCCGTGTCTCCGGGAGGGGAGCGCCTTTAAGCCGAAACCCCGCCCTCTCGGTCGTCCTGGCAACGCCTCCCCCAACCCGGGGCTCCCACATTTCAGCAGGTGCCGGAGCTGGAGCTCCCACCGCCGCCGCCCGTGCCTCCGGCTGCCGGCGCCCCTGCCTTTGGCTCTTCCTCCCCACTCGCCCGCTCCCCCTGGCGGAGCCGGCGCGCCCGGGGTGCCGCTCCCTGCCTGGCGCGCTCCGCACCTGGAGGTGCCTTGCCCCTCTCCTGCCCACCTCGGAATTTCCCTGTGGCTCCTTTGATCCTTCGAGTCTCCAGCTCCTCTCCCTTCCACCTGTTTCCCCCAAGAAAGGCAGGATCCTGGTCCCTGCTACGTTTCTGGGGCCATGGCTGGTCTGGGCCCCGGCGTAGGCGATTCAGAGGGGGGACCCCGGCCCCTGTTTTGCAGAAAGGGGGCCCTGAGGCAGAAGGTGGTCCACGAAGTCAAGAGCCACAAGTTCACCGCTCCCTTCTTCAAGCAGCCCACCTTCTGCAGCCACTGCACCGACTTCATCTGGTGAGGGAAGGGGGCTGGGGGACTGGGGGACGAGGGGACTAGGGGTGCAGACTCCTATCACGCCGACCCCTGTGGAAGGAAGAAGGAGGGGGCTGTAGTCCCGACTCCCAGGTTCTAGGATGGCCAGGGAACGCTGGGAGCTTCGACTCCTGGGTTTCAGTGAGGAGGAGGCTGGTTCCTGGAGTGCTGGGTCCGAGGGAGGAGGAGGCTGGAGGACAGAGGTCCTGGAGTCTTGGGTCTGAGGGAGGAAGGGCCTGGGGGGCTGGGAGCCTGGATTCCTGGGTCTGAAGGAGGAAGAAACTGGGGGCTGAACTCCAGTCTAAGGGAAGAAGGGCTGGGGGCCAAAATTTCTGGGTTCTAGAAAGAGGAGGTGGCCGGGGCTTGGACACCTGGGCCCTGCGGGAGGAGGGTCAGAGAGCGCAGGCCCCCTGTGGCTCGCAGAGGTTGGGGGTCCAGGTACCCCTTTCTGCACTGACCTAGGATCCCTGACTCTTCCAGGGGTATCGGAAAGCAGGGCCTGCAATGTCAAGGTAAGAGCTGGGGACCGGGGCTCCTGGGACCCTCAGGAGGGTGGAGGCTGGGGCCCCACAGCTGAGGCTGCTTGACACACGTGTTCTCTGGTCCCCAGAGAGGCGCGGGGGAGCCCGGGGCGGGGGGTGTGGCAGAGACACAGCCTGTGGTGGGGAGGGAGCTTTGATGGTGGGGCCACCGCGGAGGTGGTGCTGGGGGCCCCTCCCTCGGCCGGCTCCAGGTGGGGACAGATATTTGGAGAATCTGTTGCCATGGGAACATGGAGATTTGGAAAAGGGGAGCTGAAGGGGGGAAGGGGGAGGGGGCTGGAGATGCAAAGTCAGAGCCCCCCCCCACCCCAGGCTGCCGTCGCCATGACAACACCAGCCGTCCTAGGCAGGGGCAGGCCGGGTGGGGTCACCAATGGGCGAGTGGGGGCCGGGCGGGGCCGGCAGTTCTGGGGGGCGGGAGAGGGGGGCGAGTCCTTGAGCACCAGCTGCTACTGCTGAGAACAGAGTGAGTCAGGGTGGGGGGCGGGCCGGCAGCAGCGCCCCCAGACTCACTTCTGCCCAAGTTGCTGCTTCCTGGGCTGCGTCTGAAGATATTTCGGTTTTCGCTCTTTGAATCTGTCTGCCTCTCTCCTGGCTTTCTGATCTCCGTCCGTGGGCCTGTGTCTGTTTGTCAATGGGATCCTATTTTCTTTCTCTCTTTTTCCATCTCCCTTCCCTGAGCTCTGTGCTCTGTGTCTCTCTGTAAGTCTCTGCGTCTCTGTTTCTGACTCTGAGCCCATCTCTTGGGTTTCTGTCTCCTGCTTCTCTCTCTGGCCTCCGATTTTCTCTCTGTTGGACTCTCTGTGTTGAGATCCCTCTCTTTCTGGTTTTCTCAGTGTCCGAGTTCCGCTCTCTCTTTCCAATTTTCTGTCTGCTGGGGTCTCCCGCTGGACTAATCCATGCCTCCGTCTGTGTCTCTATGATTTTCATCTATAGTCTGCAGCTTTGTGGTTCATCGACGATGCCACGAATTTGTGACCTTCGAGTGTCCAGGCGCTGGGAAGGGCCCCCAGACGGACGTGAGTGCTCGGACACCTGGTTCTCCTCCTCGGGCCGTGCCCCCGCCCTCACCCCCTCGGCGTCCGTCCCAATTTCTCCTGCTATTTTTATGGCTGGGAGGGGAGGGGGGCTGGAGAGATAGGGGGAGCTATCTGGCCCAGATTCCTTGCCCTTGGCCTGGAAAGGGGGAATGCGAGGGGGACTGACAGGCTGGGGACACGGGTGGGGCACAGAGAGGAGGCCGGGGTGAGGAGACTGAAGATGGGTGCTGCCGGGGGTGGGCTGTGATCCAGGGGTGAAGGGATTTAAAAATTGAGAGCTGAGGGGCACACGGAGAAAAATATCAGTGCAGGTGCGGAGATGCCAACATAAGACAGAGGGAATCTCAGGGAGAGGAACAGAGACAGAAGAAGACAGAGACCTAGGAGAGACTGAAGCTG
Task1_train_27506
This is a variant in PRKCG (protein kinase C gamma), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; Spinocerebellar ataxia type 14
AGCCGAAACCCCGCCCTCTCGGTCGTCCTGGCAACGCCTCCCCCAACCCGGGGCTCCCACATTTCAGCAGGTGCCGGAGCTGGAGCTCCCACCGCCGCCGCCCGTGCCTCCGGCTGCCGGCGCCCCTGCCTTTGGCTCTTCCTCCCCACTCGCCCGCTCCCCCTGGCGGAGCCGGCGCGCCCGGGGTGCCGCTCCCTGCCTGGCGCGCTCCGCACCTGGAGGTGCCTTGCCCCTCTCCTGCCCACCTCGGAATTTCCCTGTGGCTCCTTTGATCCTTCGAGTCTCCAGCTCCTCTCCCTTCCACCTGTTTCCCCCAAGAAAGGCAGGATCCTGGTCCCTGCTACGTTTCTGGGGCCATGGCTGGTCTGGGCCCCGGCGTAGGCGATTCAGAGGGGGGACCCCGGCCCCTGTTTTGCAGAAAGGGGGCCCTGAGGCAGAAGGTGGTCCACGAAGTCAAGAGCCACAAGTTCACCGCTCGCTTCTTCAAGCAGCCCACCTTCTGCAGCCACTGCACCGACTTCATCTGGTGAGGGAAGGGGGCTGGGGGACTGGGGGACGAGGGGACTAGGGGTGCAGACTCCTATCACGCCGACCCCTGTGGAAGGAAGAAGGAGGGGGCTGTAGTCCCGACTCCCAGGTTCTAGGATGGCCAGGGAACGCTGGGAGCTTCGACTCCTGGGTTTCAGTGAGGAGGAGGCTGGTTCCTGGAGTGCTGGGTCCGAGGGAGGAGGAGGCTGGAGGACAGAGGTCCTGGAGTCTTGGGTCTGAGGGAGGAAGGGCCTGGGGGGCTGGGAGCCTGGATTCCTGGGTCTGAAGGAGGAAGAAACTGGGGGCTGAACTCCAGTCTAAGGGAAGAAGGGCTGGGGGCCAAAATTTCTGGGTTCTAGAAAGAGGAGGTGGCCGGGGCTTGGACACCTGGGCCCTGCGGGAGGAGGGTCAGAGAGCGCAGGCCCCCTGTGGCTCGCAGAGGTTGGGGGTCCAGGTACCCCTTTCTGCACTGACCTAGGATCCCTGACTCTTCCAGGGGTATCGGAAAGCAGGGCCTGCAATGTCAAGGTAAGAGCTGGGGACCGGGGCTCCTGGGACCCTCAGGAGGGTGGAGGCTGGGGCCCCACAGCTGAGGCTGCTTGACACACGTGTTCTCTGGTCCCCAGAGAGGCGCGGGGGAGCCCGGGGCGGGGGGTGTGGCAGAGACACAGCCTGTGGTGGGGAGGGAGCTTTGATGGTGGGGCCACCGCGGAGGTGGTGCTGGGGGCCCCTCCCTCGGCCGGCTCCAGGTGGGGACAGATATTTGGAGAATCTGTTGCCATGGGAACATGGAGATTTGGAAAAGGGGAGCTGAAGGGGGGAAGGGGGAGGGGGCTGGAGATGCAAAGTCAGAGCCCCCCCCCACCCCAGGCTGCCGTCGCCATGACAACACCAGCCGTCCTAGGCAGGGGCAGGCCGGGTGGGGTCACCAATGGGCGAGTGGGGGCCGGGCGGGGCCGGCAGTTCTGGGGGGCGGGAGAGGGGGGCGAGTCCTTGAGCACCAGCTGCTACTGCTGAGAACAGAGTGAGTCAGGGTGGGGGGCGGGCCGGCAGCAGCGCCCCCAGACTCACTTCTGCCCAAGTTGCTGCTTCCTGGGCTGCGTCTGAAGATATTTCGGTTTTCGCTCTTTGAATCTGTCTGCCTCTCTCCTGGCTTTCTGATCTCCGTCCGTGGGCCTGTGTCTGTTTGTCAATGGGATCCTATTTTCTTTCTCTCTTTTTCCATCTCCCTTCCCTGAGCTCTGTGCTCTGTGTCTCTCTGTAAGTCTCTGCGTCTCTGTTTCTGACTCTGAGCCCATCTCTTGGGTTTCTGTCTCCTGCTTCTCTCTCTGGCCTCCGATTTTCTCTCTGTTGGACTCTCTGTGTTGAGATCCCTCTCTTTCTGGTTTTCTCAGTGTCCGAGTTCCGCTCTCTCTTTCCAATTTTCTGTCTGCTGGGGTCTCCCGCTGGACTAATCCATGCCTCCGTCTGTGTCTCTATGATTTTCATCTATAGTCTGCAGCTTTGTGGTTCATCGACGATGCCACGAATTTGTGACCTTCGAGTGTCCAGGCGCTGGGAAGGGCCCCCAGACGGACGTGAGTGCTCGGACACCTGGTTCTCCTCCTCGGGCCGTGCCCCCGCCCTCACCCCCTCGGCGTCCGTCCCAATTTCTCCTGCTATTTTTATGGCTGGGAGGGGAGGGGGGCTGGAGAGATAGGGGGAGCTATCTGGCCCAGATTCCTTGCCCTTGGCCTGGAAAGGGGGAATGCGAGGGGGACTGACAGGCTGGGGACACGGGTGGGGCACAGAGAGGAGGCCGGGGTGAGGAGACTGAAGATGGGTGCTGCCGGGGGTGGGCTGTGATCCAGGGGTGAAGGGATTTAAAAATTGAGAGCTGAGGGGCACACGGAGAAAAATATCAGTGCAGGTGCGGAGATGCCAACATAAGACAGAGGGAATCTCAGGGAGAGGAACAGAGACAGAAGAAGACAGAGACCTAGGAGAGACTGAAGCTGAGGCAGAGAGAGAGAGAGATGGAGCAGAGAAAGAACCAGGGAGAAAGAGAGGAATTTGGAGGCACCAAAAGATGGACAGAGAAACTCCAAGAGACGGAGACACAGACACCTGGAGAAAGAGACTAAAATAGAAAATGGTGGATACAGACAACAGCTTAGGAGATGCTGAGAGGAGACCCAGGGAAGTCCCACAGTACACTTGCACACATGTGCGTGCATGTACAGATGCCCCTGTCATCACAGATGTGCAGCACGCAGAGACACACAGCCTCTCCCCACCCCCTCTCTCTCCATCAGAGGCTCACAAGACCAGTCAACCCTGAGTGCCCATTCCCGTTCCCTTTTCTGCTTTATCTCTGAGCCTCAGTTTCCTCCTCTATAAAATGGGGCTGATGATCTAGCATTGACCAACAGAACTGTTTACAGTGACGGAAGCATTCTGTACATGCACTGTCCAATAGGCAGCCACCAGCTCCATGTAGCCAGTGAGCACTTGAAACAGGGCGACTGTGGCTGAGGATTAGAAATTCCATTTCGTGTCATTTGAATTGGCTTAAATTTTTTTTTTTTATTTTTATTTTTTGAGACGGAGTCGCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCGCAGTCTCAGCTCAATGCAACTTCCGTTTCCCAGGTTCAAGCAATTCTTCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCATGCCACCACACCCCGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAGAACTGACTTAAATTTAAACAGCCACATGTAGTTAGTGGCCACCAAATGGGACAGCACACATCTGGACACTTCCAGGCTTGTTTTGAAGTCAGGTGGGTTCAGAGTTTCGCCCAGGGTTTGACACAAGATCGGAGACAGTTTTATGATGTACAGATGGAGAGAGAGGCAGAGAGAGAGAGATCCACAGAAGTCCATGAGGCGTTTTACCACCCTCTCAGCTGAAAATAACAGAAGTCTACATAGAAGATGTGACTTCATAGAACATATATTGAGCACCACTGTCTACCAGCACGTGTATGTGATTGATGACCCCCCTCGTCCACTCACCTCCGCCACCAACACCAGATAAGTCTGATGCATCCAGTGCTCATTGGGTACACTCATCAAGATTTTTTTTTTTGTTTTTTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCTGAGCGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTTTGTCTTGGAAAAAAAAAAAAAGATTTTTTTTTGTTTTTGTTGTTTTGTTTGATTTTGGGGTATTTTTTAGATGGAGTTTCACTCTGTCACCCAGGCTGGAGTGCACTGGTGCAATCTTGGTTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCGAGTA
AGCCGAAACCCCGCCCTCTCGGTCGTCCTGGCAACGCCTCCCCCAACCCGGGGCTCCCACATTTCAGCAGGTGCCGGAGCTGGAGCTCCCACCGCCGCCGCCCGTGCCTCCGGCTGCCGGCGCCCCTGCCTTTGGCTCTTCCTCCCCACTCGCCCGCTCCCCCTGGCGGAGCCGGCGCGCCCGGGGTGCCGCTCCCTGCCTGGCGCGCTCCGCACCTGGAGGTGCCTTGCCCCTCTCCTGCCCACCTCGGAATTTCCCTGTGGCTCCTTTGATCCTTCGAGTCTCCAGCTCCTCTCCCTTCCACCTGTTTCCCCCAAGAAAGGCAGGATCCTGGTCCCTGCTACGTTTCTGGGGCCATGGCTGGTCTGGGCCCCGGCGTAGGCGATTCAGAGGGGGGACCCCGGCCCCTGTTTTGCAGAAAGGGGGCCCTGAGGCAGAAGGTGGTCCACGAAGTCAAGAGCCACAAGTTCACCGCTCGCTTCTTCAAGCAGCCCACCTTCTGCAGCCACTGCACCGACTTCATCTGGTGAGGGAAGGGGGCTGGGGGACTGGGGGACGAGGGGACTAGGGGTGCAGACTCCTATCACGCCGACCCCTGTGGAAGGAAGAAGGAGGGGGCTGTAGTCCCGACTCCCAGGTTCTAGGATGGCCAGGGAACGCTGGGAGCTTCGACTCCTGGGTTTCAGTGAGGAGGAGGCTGGTTCCTGGAGTGCTGGGTCCGAGGGAGGAGGAGGCTGGAGGACAGAGGTCCTGGAGTCTTGGGTCTGAGGGAGGAAGGGCCTGGGGGGCTGGGAGCCTGGATTCCTGGGTCTGAAGGAGGAAGAAACTGGGGGCTGAACTCCAGTCTAAGGGAAGAAGGGCTGGGGGCCAAAATTTCTGGGTTCTAGAAAGAGGAGGTGGCCGGGGCTTGGACACCTGGGCCCTGCGGGAGGAGGGTCAGAGAGCGCAGGCCCCCTGTGGCTCGCAGAGGTTGGGGGTCCAGGTACCCCTTTCTGCACTGACCTAGGATCCCTGACTCTTCCAGGGGTATCGGAAAGCAGGGCCTGCAATGTCAAGGTAAGAGCTGGGGACCGGGGCTCCTGGGACCCTCAGGAGGGTGGAGGCTGGGGCCCCACAGCTGAGGCTGCTTGACACACGTGTTCTCTGGTCCCCAGAGAGGCGCGGGGGAGCCCGGGGCGGGGGGTGTGGCAGAGACACAGCCTGTGGTGGGGAGGGAGCTTTGATGGTGGGGCCACCGCGGAGGTGGTGCTGGGGGCCCCTCCCTCGGCCGGCTCCAGGTGGGGACAGATATTTGGAGAATCTGTTGCCATGGGAACATGGAGATTTGGAAAAGGGGAGCTGAAGGGGGGAAGGGGGAGGGGGCTGGAGATGCAAAGTCAGAGCCCCCCCCCACCCCAGGCTGCCGTCGCCATGACAACACCAGCCGTCCTAGGCAGGGGCAGGCCGGGTGGGGTCACCAATGGGCGAGTGGGGGCCGGGCGGGGCCGGCAGTTCTGGGGGGCGGGAGAGGGGGGCGAGTCCTTGAGCACCAGCTGCTACTGCTGAGAACAGAGTGAGTCAGGGTGGGGGGCGGGCCGGCAGCAGCGCCCCCAGACTCACTTCTGCCCAAGTTGCTGCTTCCTGGGCTGCGTCTGAAGATATTTCGGTTTTCGCTCTTTGAATCTGTCTGCCTCTCTCCTGGCTTTCTGATCTCCGTCCGTGGGCCTGTGTCTGTTTGTCAATGGGATCCTATTTTCTTTCTCTCTTTTTCCATCTCCCTTCCCTGAGCTCTGTGCTCTGTGTCTCTCTGTAAGTCTCTGCGTCTCTGTTTCTGACTCTGAGCCCATCTCTTGGGTTTCTGTCTCCTGCTTCTCTCTCTGGCCTCCGATTTTCTCTCTGTTGGACTCTCTGTGTTGAGATCCCTCTCTTTCTGGTTTTCTCAGTGTCCGAGTTCCGCTCTCTCTTTCCAATTTTCTGTCTGCTGGGGTCTCCCGCTGGACTAATCCATGCCTCCGTCTGTGTCTCTATGATTTTCATCTATAGTCTGCAGCTTTGTGGTTCATCGACGAAGCCACGAATTTGTGACCTTCGAGTGTCCAGGCGCTGGGAAGGGCCCCCAGACGGACGTGAGTGCTCGGACACCTGGTTCTCCTCCTCGGGCCGTGCCCCCGCCCTCACCCCCTCGGCGTCCGTCCCAATTTCTCCTGCTATTTTTATGGCTGGGAGGGGAGGGGGGCTGGAGAGATAGGGGGAGCTATCTGGCCCAGATTCCTTGCCCTTGGCCTGGAAAGGGGGAATGCGAGGGGGACTGACAGGCTGGGGACACGGGTGGGGCACAGAGAGGAGGCCGGGGTGAGGAGACTGAAGATGGGTGCTGCCGGGGGTGGGCTGTGATCCAGGGGTGAAGGGATTTAAAAATTGAGAGCTGAGGGGCACACGGAGAAAAATATCAGTGCAGGTGCGGAGATGCCAACATAAGACAGAGGGAATCTCAGGGAGAGGAACAGAGACAGAAGAAGACAGAGACCTAGGAGAGACTGAAGCTGAGGCAGAGAGAGAGAGAGATGGAGCAGAGAAAGAACCAGGGAGAAAGAGAGGAATTTGGAGGCACCAAAAGATGGACAGAGAAACTCCAAGAGACGGAGACACAGACACCTGGAGAAAGAGACTAAAATAGAAAATGGTGGATACAGACAACAGCTTAGGAGATGCTGAGAGGAGACCCAGGGAAGTCCCACAGTACACTTGCACACATGTGCGTGCATGTACAGATGCCCCTGTCATCACAGATGTGCAGCACGCAGAGACACACAGCCTCTCCCCACCCCCTCTCTCTCCATCAGAGGCTCACAAGACCAGTCAACCCTGAGTGCCCATTCCCGTTCCCTTTTCTGCTTTATCTCTGAGCCTCAGTTTCCTCCTCTATAAAATGGGGCTGATGATCTAGCATTGACCAACAGAACTGTTTACAGTGACGGAAGCATTCTGTACATGCACTGTCCAATAGGCAGCCACCAGCTCCATGTAGCCAGTGAGCACTTGAAACAGGGCGACTGTGGCTGAGGATTAGAAATTCCATTTCGTGTCATTTGAATTGGCTTAAATTTTTTTTTTTTATTTTTATTTTTTGAGACGGAGTCGCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCGCAGTCTCAGCTCAATGCAACTTCCGTTTCCCAGGTTCAAGCAATTCTTCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCATGCCACCACACCCCGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAGAACTGACTTAAATTTAAACAGCCACATGTAGTTAGTGGCCACCAAATGGGACAGCACACATCTGGACACTTCCAGGCTTGTTTTGAAGTCAGGTGGGTTCAGAGTTTCGCCCAGGGTTTGACACAAGATCGGAGACAGTTTTATGATGTACAGATGGAGAGAGAGGCAGAGAGAGAGAGATCCACAGAAGTCCATGAGGCGTTTTACCACCCTCTCAGCTGAAAATAACAGAAGTCTACATAGAAGATGTGACTTCATAGAACATATATTGAGCACCACTGTCTACCAGCACGTGTATGTGATTGATGACCCCCCTCGTCCACTCACCTCCGCCACCAACACCAGATAAGTCTGATGCATCCAGTGCTCATTGGGTACACTCATCAAGATTTTTTTTTTTGTTTTTTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCTGAGCGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTTTGTCTTGGAAAAAAAAAAAAAGATTTTTTTTTGTTTTTGTTGTTTTGTTTGATTTTGGGGTATTTTTTAGATGGAGTTTCACTCTGTCACCCAGGCTGGAGTGCACTGGTGCAATCTTGGTTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCGAGTA
Task1_train_27507
This alteration occurs within gene PRKCG (protein kinase C gamma) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; not provided
CGGATCACGAGGTCAGGAGATCCAAACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTA
CGGATCACGAGGTCAGGAGATCCAAACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAATACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTA
Task1_train_27508
Chromosome 19 houses a mutation in gene PRKCG (protein kinase C gamma). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Spinocerebellar ataxia type 14
GATCACGAGGTCAGGAGATCCAAACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATG
GATCACGAGGTCAGGAGATCCAAACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACAGAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATG
Task1_train_27509
A variant has been detected on Chromosome 19 in PRKCG (protein kinase C gamma). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Spinocerebellar ataxia type 14
GCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAA
GCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTACGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAA
Task1_train_27510
Located on Chromosome 19, this mutation impacts PRKCG (protein kinase C gamma). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Spinocerebellar ataxia type 14
TCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACC
TCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCCCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACC
Task1_train_27511
Here is a mutation in PRKCG (protein kinase C gamma) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Spinocerebellar ataxia type 14
ATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGA
ATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACAGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGA
Task1_train_27512
Chromosome 19 houses a mutation in gene PRKCG (protein kinase C gamma). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
TACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGAC
TACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGAGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGAC
Task1_train_27513
A mutation in PRKCG (protein kinase C gamma), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; not provided
GCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGACGAAACAGAAGAC
GCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCGGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGACGAAACAGAAGAC
Task1_train_27514
A variant was discovered on Chromosome 19, affecting PRKCG (protein kinase C gamma). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; not provided
AGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGACGAAACAGAAGACCCG
AGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGACATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGACGAAACAGAAGACCCG
Task1_train_27515
Here is a variant affecting PRKCG (protein kinase C gamma) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Spinocerebellar ataxia type 14
AACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGACGAAACAGAAGACCCGAACGGTGAAAGCCACGCTAAACCCTGTGTGGAATGAGACCTTTGTGTTGTGAGTCTGGGGTGCAGGGAAGGCAATGACAGCTGACAGAGAATGATCTGAGGGTCCTAGTGGCCCCCAGAGAGCAGCTGATGGGAGGGGTTAGGATAGAGGGAACCCAGAAAAGGGC
AACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGAGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGACGAAACAGAAGACCCGAACGGTGAAAGCCACGCTAAACCCTGTGTGGAATGAGACCTTTGTGTTGTGAGTCTGGGGTGCAGGGAAGGCAATGACAGCTGACAGAGAATGATCTGAGGGTCCTAGTGGCCCCCAGAGAGCAGCTGATGGGAGGGGTTAGGATAGAGGGAACCCAGAAAAGGGC
Task1_train_27516
A mutation in PRKCG (protein kinase C gamma), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Spinocerebellar ataxia type 14
TGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCACCGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGACGAAACAGAAGACCCGAACGGTGAAAGCCACGCTAAACCCTGTGTGGAATGAGACCTTTGTGTTGTGAGTCTGGGGTGCAGGGAAGGCAATGACAGCTGACAGAGAATGATCTGAGGGTCCTAGTGGCCCCCAGAGAGCAGCTGATGGGAGGGGTTAGGATAGAGGGAACCCAGAAAAGGGCAGAA
TGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGTCAGCGGAGATATTTAGAAGCCCAGCACATTGAAAAGGATCCTGGAAACTGCCAACACCCTCCTCTACCCAAATATATATTCAAACTAGAAACCCCACTAACATAGATGAAAATCCAAGAATGGCCTAAATGTTCACCCTGTGATAATCCTTTTAATGGATTCTTAGAATCAAGTTATTTAACAAGCAGATATTGTCCCGGGGGTAGTGGGTGGCAGGGGAGAAGGAGAAGCTTCACTGATGACCTGCATTCTTGCTTAATGGACTCTGGAAATTTAGCATTGCTTCAAAATATAGATTATTTATTTCCACTTGACAGAGGAGGATGCTGAGGCTCAAAACTGGGAATGAACTTGCCCCAAATCACACAGCTGAGAAGCGGCCTAGCTCTTACTTACATTCAGGGCTATGTAGGGACTTCAATAAAATCCCTAACAATAACCACAGTAATAGTATTGGGAGCATCTAACGTGGTAGGCACAGCTATGTTTTGTACACCAATTATTTTATTTAGGCCTCCTGGGTTCCTATTATAACTGAGAGGTCATGTTCTCCATTCCACCTGGAGCTCAGAGAAGGCATACCATATGGACACTGACAGAAGCTGCCAGTGAAGGAGCTGGGGTTCAGGGTGGCCCACAAGTCCTCAAATAATAACTTGTGGGAGTTGGGGGGATGGGAACTATGGGAGGTTGGAAGCTCCTGCCTCCTTCATGTTCTGCCCAGATATCATTTGGTCAGCGAGGCCCCCCTGCCACTCCCCCTGCACACAGTTTTGTTGTTGTTGTTGTTGTTTGAGACAGAATCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCGGCCTCCTGGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTTGCCATGTTGCCTAGCCTGGTCCGGAACTCCTGAGCTCAAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGGACCACCGTATTTAAAATTTCAATCCCCCAACTTCTGGTGGTCCCCATCCCTGCCTCATTTTTTCTCCAGAGCACCCATTACCAACCATCAAACTATATGTTTTATTTATTTACCATGTTTACATTCTGTATCCCTCCATTAGGAAGTAAACTCCATGTGACAAAGAGGTTTTTTTTTTTCATTTGTTTAATGCTGGGTCCCCACACCAAGAACAGTCCCTGGCACACAGCAGGTGCTCAATGATTATTGGTACATAGAGTGAAAGAGATGGAGCCTCAGGCTGACCTAGAGAGCAAGGCAGGAGGAAAAGATAAAAGGGCCCCTCCCCTGGGGTTTTAGGACCCTCCCAACGCCCCCTAAGCCAGTCTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGGCCCTTCCAAAGCGCCCGGTCTGGGTTCCGGGAAATGCCCGGGATGGGGTGGGGGGTGGAGTCTTGGCTTGGGGGCGGGGCCTGAGGTGCTACCCGCAGCTTTCCCCTCCAGGCTGCGAGATGAACGTGCAACGGCGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTAACTGGTGAGGCCCCGCCCCCTCGCCTGGCCCCGCCCCCTCCCCAAGTGTGAGGCGGGGCTGACCCAAGGCACTTGTGCTGGCCCAGCCCTACCCCAAAGATGGGGCCACGCCTCTTTCTATGGTCACGCCCACACTCCTGACCCCACCCCAAAGGCCGAGCACACCCAGCCATACCCCTTTTGGCTCGAAGCCCCGCCTCCAACCTGGCTTCTTGCAACTTTCTGCACCTGTTAATGACTTTGACTTTCTTTTTTTTTTTGGGACGGAGTTTCGCTCTTGTTGCTCAAGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGTCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTACAAACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCCCTCGACTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCTGGCCAATGGCTTTCTTTTTTGTTTTTATTTTATGTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCGGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACATCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAAGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGACACTGCACCCAGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTAGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGGACCGTGCCCGGCAATGGCTTTCTGGGTATAAGGATCTTGAGAAGGGAGAGTACCTGGTTCTGAGGGAGGCTGTGGTTCAGTACTGGTGACATGGCCAGGGTCCAAACTCTGGTTCCTAATGGAGAGAAGGGCTCTGGATCTGATTTCAGGGTCACTGGTTGCGGAAAGGGCTCTATGCCCTGTCTTCTGGGTTCTGGAGAGGTAAGAAGTCATGAGAAACGAGACTGAGAGCTTGGAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGACGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGACTCCTGGGTTCACGTCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACCACAGACACCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCGCCGTGCCTGGCCAAGCTTGGAACTCTTGATTGCTGACTGGAGGAGGGCTGGGAGCCCCTTCCTGGATCTCTAACCCGTCACACTCTTCCTCACTCCCCGTTTAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGACGAAACAGAAGACCCGAACGGTGAAAGCCACGCTAAACCCTGTGTGGAATGAGACCTTTGTGTTGTGAGTCTGGGGTGCAGGGAAGGCAATGACAGCTGACAGAGAATGATCTGAGGGTCCTAGTGGCCCCCAGAGAGCAGCTGATGGGAGGGGTTAGGATAGAGGGAACCCAGAAAAGGGCAGAA
Task1_train_27517
Given this context: Chromosome 19, gene PRKCG (protein kinase C gamma) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Spinocerebellar ataxia type 14
GACTCTATCTCAGAAAAAAAAAAAAAAGAGAGAATGGGCTCTGCAGGAGACAAGGGTACCAGCGGGAGGACATTCTGAGCCAAAGAGGTAGAGTCTTTTGAGATCAGCAGGGATGATCCTCCCGTACAAACCCAAGAAACCCAGCAGGGCAGATGGTGGGCAAAGGCCTAGAGGCAGGGAGTGTAGGGTGGTGTGTGTGCCTGTTGTGGCTCACAGCACTCTCCCACAGTTCAGCAGGCACCACTTAATATTACCAATGAACACCAACTCTGTGCCAAGCCTTGAGCTAGGTACGGGGCTAACAACACAGCAAACAGAAACAGCCCTGATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATGTATTTATCTATTTGAGACACAGTCTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGAGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCATGTCCTACTAATTTTTATATTGCTAGTAGAGATGGGGCTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCCTCAACAAATATTTATGTAGCCTCAATGAGGTAGGCAGTGTTACTGTGTCTTAGCGAACAAAGCAGACCCCTGCCTTAGGGAGCTCACAGGCAGAAAGCAGATAGTCACACAGATAGATGTAAATTACTAAGAATAAAAGTGCCAGGAAGGTGCTGTCCATGGTGACCAAGGGGTGGTAAGAGAGGCATCTGACCCAGTTTAAAAAGTCAGGCGAGGCCTCTATGAAGTGATGCTTGAGTCAAGGTCTAAAGGGTGTTTGGGAGACAACTAGGAGGGAAGGGGAGGGGAGAGCTTTACAGGAAGACCTAACGGCACATCCAGAGGCCCTGAGGTGGGAGGGAGGACAATGAGTGTCAGGCCAGGGTGGCTGGACCATGGAGCCTGGGAGAGAGAAGAACAACCTGCAGTGTCAGTCTCAGCCTGGCTCTGCAAGTCATGTGGAATAAAATCTTAACACAGAGGGAGCAGTTAAAGGGTTTACAAGCATAGGGGAGACATGACCTGGTTTATTTATTTTTAAATTGGCTCCTGTGCCTGCTGAGTAGAGAATGCATTAGAAAGGGCAGCCGTCCATGTAGAGGGACAAGTGTGGAAGCTGTGACAGCAGCTTAGTCTTGGGCCCCCTCCCTGGGGGGCCGAGGCAGGAAAAGGTAGAGAAGGGACCCTAGCTGAAAGCCAGGTGTGCTCCCTGGACTGGCAGCACCCATGTCACCCAGAAGCTTTTTACACATAACGATTCTCAGGTCCCACCCCAGATTTATAGAGTTAGAAAATCTGGCAGTGGGACCCAGCAATCTGTTTTACCAAACCCTCTAGGGAATTCCGGCTTAGAGGCTAAGAGCAACCAGATTCTAGAGCTGGACTGCTTGGGTTTCATTTCTGGCTCTGTCCTTTACCTGCTGTGTGACTTGGGGCAAGTTACTTAACGTCTCTGTGCTAGTCTCCTCTTCTGTAAAATGGAAACGATAGCAGGGTTTTCTGGAAACAGCATATGATAAGCTATCTAAAAAAAAAAAAGAAGAAAAAAAGAGCTAAGTGTTTGTTGAATAATAAATAAACCCTCCAGGCTATGGGGAGTCAGAGAAAATTAAGCCAAGGACAGGGTAGGAGGGTGGCCATTTTCCTCTGTCTAGCGATTCTCATCCTTTCCTTTCTTGGGTGCTGTGTCTCTTGGGAGCATTTCCTTATCGCTGTGTAAGGTCTAACTGCCTCTGGCTCTTTCTTTCTCCTTTCCACAGCGGGTGCGGATGGGCCCCTCTTCCTCTCCCATCCCCTCCCCTTCCCCTAGTCCCACCGACCCCAAGCGCTGCTTCTTCGGGGCGAGTCCAGGACGCCTGCACATCTCCGACTTCAGCTTCCTCATGGTTCTAGGAAAAGGCAGTTTTGGGAAGGTTGGATTCCTGGGGTTCTGGGGGAAAGGGAGGATGTCTGTGGGAAGGTCAGATTTCTGGTTCTTAGGGAGGAAGTGGGGGTGGGAAGAGACTGGGCTCCTGCATCTTCAAATATGGTTAGGTTGGGCCGTTCAGGTTCCTGGAGAGGAGAGGTTTACAGATGTGGACACTCTCCTTGAGGGGACGGGCGGCAAGTCAGGGCTGTCAGTCCCTTAAGAGATGGAGGAAGGGCCTGGGATCCCGTTTCCCTGCGTCCCTTAGGGAGGGGGCAGGTCCTGTACCACTGGGTTCCCAACATGGACTGGCCCTTTTGGAACTGTGCGCATAGGTGATGCTGGCCGAGCGCAGGGGCTCTGATGAGCTCTACGCCATCAAGATCTTGAAAAAGGACGTGATCGTCCAGGACGACGATGTGGACTGCACGCTGGTGGAGAAACGTGTGCTGGCGCTGGGGGGCCGGGGTCCTGGCGGCCGGCCCCACTTCCTCACCCAGCTCCACTCCACCTTCCAGACCCCGGTAAGGATGGAGGGGGCGGAGGCTGTCCTCCGGGCCCTGCCTTATCCAGTTCTGGACATCTGCGTTGGGATTCTGAGTTTAGGGCGAGGCAAGAGAACTTTGTGCTCTCTGAGTGGGCGAGGCCAGGCGGATTGTCTCCTCAGGGGGCGTGGCCGGGGGGGGGTCCTTGGGGGGCGTGGCCAGGCGAAGGGACTCATCGGGGGGCGTGGCCAGGCGGAGGGGCTCAACGGAGGCGAGGCCGGGTGGAGGGGCTCCTCGGGGGCGTGGCCAGGTGGAGGGACTCATCGGGGGCGTGGCCAGGCAGAGGGGCTCTTCGCGGGGCGTGGTCAGGCGGATGAAATCTTTGGGGGGGTGGTTTAGAGGGGCGGGCTTTGTCAGGCGATGGGATCATTAATAGGCGTGGCCAGGCAGATTGGCTCCTTGGGGGCGAGGCCAGGCAGACGAGATTATGAATGAGCGTATCCAGGCAGGTAGATTCTTCGGAGGGCGTGGTCGGGCGGATGAGCTCCTCGGGGGCGTGGCCAGGCGGTGAGTTCCTCGGTGGCATGGCCTGGCCAGGTGAATGGGTCCTGCGGAGGTGTCGTGAAGCGGTTGAGTTCCTTGGGGGCGTGGCCAGGTGGATGGGCTCTTGGGGGGAGTGGCCAGATGCCTGTTTCCCTGGGGAGCTTGGTCTTGAGTGGCTGTAGCCAGTGCTCTGGAATTTTCAGCAAAGGGGCACAGTGGAGGAGGGTGCCTTCCTAGTGGGCCTGCCCAGAATTGGGCTCCGAGTGACGGGGTCATCACTTTTGGATTCTGACTGAAGGACACATCAGAAACAGGACATTATTTCCTTAGGATTGCGACTTAGGGGCAGAGAGTCAGAACCTGCAAGATTTTAAGAGGGCGTGACTTTACTTCCAGGGGCTCCGAATGAGAGTGGCCAGCCACCTGGATTAAAATATATGTATGAGCAACTTTGATTCCTTTTTTTTTTTTTGAGAAGGAGTTAGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCAATTCTCCCGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCGCCACCACACTCAGCTGATTTTTGTATTTTTAGTAGAGACCGGGTTTCGCCACGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCTGCAACTTTGATTCTTAGTAGGAAGCCAGAATTGCATCTGTGTGTGAGTGGCTGTGGAAAGAGATTTTGGTGTTCCCGGATTTCGAGCGAATGGTGGGCTTCAGTCTTCAATTCTGAGAAGGCGGGGCCAGAACACGTGGTCTGATAGTTGGCGGTGGTCTGGCGGGTGGAGATTCTGAGGTAGCAGGATTAGCACCTTAGGGCCCTCCCAGGGATGTGGCTAGGTGCTCTGAATTTCTGGTTGGGTGCATCTGGAACC
GACTCTATCTCAGAAAAAAAAAAAAAAGAGAGAATGGGCTCTGCAGGAGACAAGGGTACCAGCGGGAGGACATTCTGAGCCAAAGAGGTAGAGTCTTTTGAGATCAGCAGGGATGATCCTCCCGTACAAACCCAAGAAACCCAGCAGGGCAGATGGTGGGCAAAGGCCTAGAGGCAGGGAGTGTAGGGTGGTGTGTGTGCCTGTTGTGGCTCACAGCACTCTCCCACAGTTCAGCAGGCACCACTTAATATTACCAATGAACACCAACTCTGTGCCAAGCCTTGAGCTAGGTACGGGGCTAACAACACAGCAAACAGAAACAGCCCTGATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATGTATTTATCTATTTGAGACACAGTCTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGAGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCATGTCCTACTAATTTTTATATTGCTAGTAGAGATGGGGCTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCCTCAACAAATATTTATGTAGCCTCAATGAGGTAGGCAGTGTTACTGTGTCTTAGCGAACAAAGCAGACCCCTGCCTTAGGGAGCTCACAGGCAGAAAGCAGATAGTCACACAGATAGATGTAAATTACTAAGAATAAAAGTGCCAGGAAGGTGCTGTCCATGGTGACCAAGGGGTGGTAAGAGAGGCATCTGACCCAGTTTAAAAAGTCAGGCGAGGCCTCTATGAAGTGATGCTTGAGTCAAGGTCTAAAGGGTGTTTGGGAGACAACTAGGAGGGAAGGGGAGGGGAGAGCTTTACAGGAAGACCTAACGGCACATCCAGAGGCCCTGAGGTGGGAGGGAGGACAATGAGTGTCAGGCCAGGGTGGCTGGACCATGGAGCCTGGGAGAGAGAAGAACAACCTGCAGTGTCAGTCTCAGCCTGGCTCTGCAAGTCATGTGGAATAAAATCTTAACACAGAGGGAGCAGTTAAAGGGTTTACAAGCATAGGGGAGACATGACCTGGTTTATTTATTTTTAAATTGGCTCCTGTGCCTGCTGAGTAGAGAATGCATTAGAAAGGGCAGCCGTCCATGTAGAGGGACAAGTGTGGAAGCTGTGACAGCAGCTTAGTCTTGGGCCCCCTCCCTGGGGGGCCGAGGCAGGAAAAGGTAGAGAAGGGACCCTAGCTGAAAGCCAGGTGTGCTCCCTGGACTGGCAGCACCCATGTCACCCAGAAGCTTTTTACACATAACGATTCTCAGGTCCCACCCCAGATTTATAGAGTTAGAAAATCTGGCAGTGGGACCCAGCAATCTGTTTTACCAAACCCTCTAGGGAATTCCGGCTTAGAGGCTAAGAGCAACCAGATTCTAGAGCTGGACTGCTTGGGTTTCATTTCTGGCTCTGTCCTTTACCTGCTGTGTGACTTGGGGCAAGTTACTTAACGTCTCTGTGCTAGTCTCCTCTTCTGTAAAATGGAAACGATAGCAGGGTTTTCTGGAAACAGCATATGATAAGCTATCTAAAAAAAAAAAAGAAGAAAAAAAGAGCTAAGTGTTTGTTGAATAATAAATAAACCCTCCAGGCTATGGGGAGTCAGAGAAAATTAAGCCAAGGACAGGGTAGGAGGGTGGCCATTTTCCTCTGTCTAGCGATTCTCATCCTTTCCTTTCTTGGGTGCTGTGTCTCTTGGGAGCATTTCCTTATCGCTGTGTAAGGTCTAACTGCCTCTGGCTCTTTCTTTCTCCTTTCCACAGCGGGTGCGGATGGGCCCCTCTTCCTCTCCCATCCCCTCCCCTTCCCCTAGTCCCACCGACCCCAAGCGCTGCTTCTTCGGGGCGAGTCCAGGACGCCTGCACATCTCCGACTTCAGCTTCCTCATGGTTCTAGGAAAAAGCAGTTTTGGGAAGGTTGGATTCCTGGGGTTCTGGGGGAAAGGGAGGATGTCTGTGGGAAGGTCAGATTTCTGGTTCTTAGGGAGGAAGTGGGGGTGGGAAGAGACTGGGCTCCTGCATCTTCAAATATGGTTAGGTTGGGCCGTTCAGGTTCCTGGAGAGGAGAGGTTTACAGATGTGGACACTCTCCTTGAGGGGACGGGCGGCAAGTCAGGGCTGTCAGTCCCTTAAGAGATGGAGGAAGGGCCTGGGATCCCGTTTCCCTGCGTCCCTTAGGGAGGGGGCAGGTCCTGTACCACTGGGTTCCCAACATGGACTGGCCCTTTTGGAACTGTGCGCATAGGTGATGCTGGCCGAGCGCAGGGGCTCTGATGAGCTCTACGCCATCAAGATCTTGAAAAAGGACGTGATCGTCCAGGACGACGATGTGGACTGCACGCTGGTGGAGAAACGTGTGCTGGCGCTGGGGGGCCGGGGTCCTGGCGGCCGGCCCCACTTCCTCACCCAGCTCCACTCCACCTTCCAGACCCCGGTAAGGATGGAGGGGGCGGAGGCTGTCCTCCGGGCCCTGCCTTATCCAGTTCTGGACATCTGCGTTGGGATTCTGAGTTTAGGGCGAGGCAAGAGAACTTTGTGCTCTCTGAGTGGGCGAGGCCAGGCGGATTGTCTCCTCAGGGGGCGTGGCCGGGGGGGGGTCCTTGGGGGGCGTGGCCAGGCGAAGGGACTCATCGGGGGGCGTGGCCAGGCGGAGGGGCTCAACGGAGGCGAGGCCGGGTGGAGGGGCTCCTCGGGGGCGTGGCCAGGTGGAGGGACTCATCGGGGGCGTGGCCAGGCAGAGGGGCTCTTCGCGGGGCGTGGTCAGGCGGATGAAATCTTTGGGGGGGTGGTTTAGAGGGGCGGGCTTTGTCAGGCGATGGGATCATTAATAGGCGTGGCCAGGCAGATTGGCTCCTTGGGGGCGAGGCCAGGCAGACGAGATTATGAATGAGCGTATCCAGGCAGGTAGATTCTTCGGAGGGCGTGGTCGGGCGGATGAGCTCCTCGGGGGCGTGGCCAGGCGGTGAGTTCCTCGGTGGCATGGCCTGGCCAGGTGAATGGGTCCTGCGGAGGTGTCGTGAAGCGGTTGAGTTCCTTGGGGGCGTGGCCAGGTGGATGGGCTCTTGGGGGGAGTGGCCAGATGCCTGTTTCCCTGGGGAGCTTGGTCTTGAGTGGCTGTAGCCAGTGCTCTGGAATTTTCAGCAAAGGGGCACAGTGGAGGAGGGTGCCTTCCTAGTGGGCCTGCCCAGAATTGGGCTCCGAGTGACGGGGTCATCACTTTTGGATTCTGACTGAAGGACACATCAGAAACAGGACATTATTTCCTTAGGATTGCGACTTAGGGGCAGAGAGTCAGAACCTGCAAGATTTTAAGAGGGCGTGACTTTACTTCCAGGGGCTCCGAATGAGAGTGGCCAGCCACCTGGATTAAAATATATGTATGAGCAACTTTGATTCCTTTTTTTTTTTTTGAGAAGGAGTTAGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCAATTCTCCCGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCGCCACCACACTCAGCTGATTTTTGTATTTTTAGTAGAGACCGGGTTTCGCCACGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCTGCAACTTTGATTCTTAGTAGGAAGCCAGAATTGCATCTGTGTGTGAGTGGCTGTGGAAAGAGATTTTGGTGTTCCCGGATTTCGAGCGAATGGTGGGCTTCAGTCTTCAATTCTGAGAAGGCGGGGCCAGAACACGTGGTCTGATAGTTGGCGGTGGTCTGGCGGGTGGAGATTCTGAGGTAGCAGGATTAGCACCTTAGGGCCCTCCCAGGGATGTGGCTAGGTGCTCTGAATTTCTGGTTGGGTGCATCTGGAACC
Task1_train_27518
The gene PRKCG (protein kinase C gamma) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Spinocerebellar ataxia type 14
GGGGCCGGGGTCCTGGCGGCCGGCCCCACTTCCTCACCCAGCTCCACTCCACCTTCCAGACCCCGGTAAGGATGGAGGGGGCGGAGGCTGTCCTCCGGGCCCTGCCTTATCCAGTTCTGGACATCTGCGTTGGGATTCTGAGTTTAGGGCGAGGCAAGAGAACTTTGTGCTCTCTGAGTGGGCGAGGCCAGGCGGATTGTCTCCTCAGGGGGCGTGGCCGGGGGGGGGTCCTTGGGGGGCGTGGCCAGGCGAAGGGACTCATCGGGGGGCGTGGCCAGGCGGAGGGGCTCAACGGAGGCGAGGCCGGGTGGAGGGGCTCCTCGGGGGCGTGGCCAGGTGGAGGGACTCATCGGGGGCGTGGCCAGGCAGAGGGGCTCTTCGCGGGGCGTGGTCAGGCGGATGAAATCTTTGGGGGGGTGGTTTAGAGGGGCGGGCTTTGTCAGGCGATGGGATCATTAATAGGCGTGGCCAGGCAGATTGGCTCCTTGGGGGCGAGGCCAGGCAGACGAGATTATGAATGAGCGTATCCAGGCAGGTAGATTCTTCGGAGGGCGTGGTCGGGCGGATGAGCTCCTCGGGGGCGTGGCCAGGCGGTGAGTTCCTCGGTGGCATGGCCTGGCCAGGTGAATGGGTCCTGCGGAGGTGTCGTGAAGCGGTTGAGTTCCTTGGGGGCGTGGCCAGGTGGATGGGCTCTTGGGGGGAGTGGCCAGATGCCTGTTTCCCTGGGGAGCTTGGTCTTGAGTGGCTGTAGCCAGTGCTCTGGAATTTTCAGCAAAGGGGCACAGTGGAGGAGGGTGCCTTCCTAGTGGGCCTGCCCAGAATTGGGCTCCGAGTGACGGGGTCATCACTTTTGGATTCTGACTGAAGGACACATCAGAAACAGGACATTATTTCCTTAGGATTGCGACTTAGGGGCAGAGAGTCAGAACCTGCAAGATTTTAAGAGGGCGTGACTTTACTTCCAGGGGCTCCGAATGAGAGTGGCCAGCCACCTGGATTAAAATATATGTATGAGCAACTTTGATTCCTTTTTTTTTTTTTGAGAAGGAGTTAGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCAATTCTCCCGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCGCCACCACACTCAGCTGATTTTTGTATTTTTAGTAGAGACCGGGTTTCGCCACGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCTGCAACTTTGATTCTTAGTAGGAAGCCAGAATTGCATCTGTGTGTGAGTGGCTGTGGAAAGAGATTTTGGTGTTCCCGGATTTCGAGCGAATGGTGGGCTTCAGTCTTCAATTCTGAGAAGGCGGGGCCAGAACACGTGGTCTGATAGTTGGCGGTGGTCTGGCGGGTGGAGATTCTGAGGTAGCAGGATTAGCACCTTAGGGCCCTCCCAGGGATGTGGCTAGGTGCTCTGAATTTCTGGTTGGGTGCATCTGGAACCTTCCACGTCTGTCCTGAGTGATCAGGAAAGAAATTCTCCTACTCTGGGTAGATGGATCCCGCCTCTAAGCCCATGCACTTCTCCGCAGGACCGCCTGTATTTCGTGATGGAGTACGTCACCGGGGGAGACTTGATGTACCACATTCAACAGCTGGGCAAGTTTAAGGAGCCCCATGCAGCGTGAGTCTCGGCCAACAGAGAATGGTCGGGGTGGTGGAAGGGGGCAGGATCCAGCCACTGACCTTCTGACGTCCCCACCCACCCCGTCCTCCAGGTTCTACGCGGCAGAAATCGCTATCGGCCTCTTCTTCCTTCACAATCAGGGCATCATCTACAGGTGAGCAGCCCCAGGAATTTCCGTGGAGGAAATCACGCCCCTGGAAGGGAAGGGATTTGAATATGTGGCTCTAGACTGCTGAACTCAACACTTCTTGCAATTCCTGCCCCACACCCCTGCATCGTCCAGGGACCTGAAGCTGGACAATGTGATGCTGGATGCTGAGGGACACATCAAGATCACTGACTTTGGCATGTGTAAGGAGAACGTCTTCCCCGGGACGACAACCCGCACCTTCTGCGGGACCCCGGACTACATAGCCCCGGAGGTAACCCCAACCCTGCTGCTCTGGTCACGCTTTGAGATCCCTTAGAGGGTGTAGCTGATGGTCCAGTATTCACCACGGGTGAGGCCTGACCCTCAGACCTTGTCATGAGTTGTGGCCTTCTTACACAGCCAGTCGTTCCTCCAGCCTCCAGCACAGGTGAGCTTGGCACTGAGCCTGCCAGGTGGGCCCAGCTGGGTCTCTAAATAGGTAAGGTGGGCAGCACCTGTGGGTGAATGTTCCAGGAGAGTGGGACCAGCTCGTAGGAATTCCAAGTAGGACCTGACCCTGGATCCTTCTGAGAAGGGGCAGACGATTTCTAGTGTACTCTGAGTGGGTGTGGCCTGTCCCCTGCCAACACTGAACATGTCCGGACTATCTTCTGAATACTTTAAACTGGGCAGGGCTCTCCCTGGAGTATTCAGTTGGATGGAAGCTTATTTCCTGTGTTGTACGTGTTTCTCTGATGTAAGTGTACTGGACTTCTGTGCTGCATTTTTCAAGAGGGCAGGATCAGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTAACAAAATTACACAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCATAACTTCATAACTTCATCTCAAAAAAAAAAAAAAAAAAAAGCCGGGTGCAGTGGCTCACACCTGTAATTCCAGCACTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGGGCAGGGTGAGATCCCTAAGGTTCTGGGAGAGCAGATGCTGTCCTATGAGTATTTTAAGTGGGTGGGGTATTACCCGACTTTGTTAAAGGGGTGGGGCTGATGTTCTGAATGTACGTATAGATGGATAAAGCACATGCCTGTAGTCCCAGCTACTTGGGAGGATGTGCCTGACTCGTGCCCAAATAATCAATGTCAGTGATCACAAAACCTGGCTGGTAATCAGAATCATCTGTAGAAAATTTGAAAACTGAGGCCAGACATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACTTGAGGTCAGGAATTCAAGACCAGCCTAGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGATGTGTGCCTGTCAACCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCATCCTGGGCTACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAGATAAGAAAATTTGAAAACTACACACATATTCCTGACTCTGACACAAATATTCTAGGTGGGTGGAACCAGTGACTTGGCCGTTAGGTAGTCTTTCTATTTGAGGCCAAATGAATGTTTGAAGTAGGTATGCTTTGTTTCCAGAATATTCCAAAAGTTAGATCGCTGGCCAAAATATTCAGAGTGGAGGCTGGGCGTGGTGGCTCACTCCTATAATCCCAGCACTTTGGGAGGC
GGGGCCGGGGTCCTGGCGGCCGGCCCCACTTCCTCACCCAGCTCCACTCCACCTTCCAGACCCCGGTAAGGATGGAGGGGGCGGAGGCTGTCCTCCGGGCCCTGCCTTATCCAGTTCTGGACATCTGCGTTGGGATTCTGAGTTTAGGGCGAGGCAAGAGAACTTTGTGCTCTCTGAGTGGGCGAGGCCAGGCGGATTGTCTCCTCAGGGGGCGTGGCCGGGGGGGGGTCCTTGGGGGGCGTGGCCAGGCGAAGGGACTCATCGGGGGGCGTGGCCAGGCGGAGGGGCTCAACGGAGGCGAGGCCGGGTGGAGGGGCTCCTCGGGGGCGTGGCCAGGTGGAGGGACTCATCGGGGGCGTGGCCAGGCAGAGGGGCTCTTCGCGGGGCGTGGTCAGGCGGATGAAATCTTTGGGGGGGTGGTTTAGAGGGGCGGGCTTTGTCAGGCGATGGGATCATTAATAGGCGTGGCCAGGCAGATTGGCTCCTTGGGGGCGAGGCCAGGCAGACGAGATTATGAATGAGCGTATCCAGGCAGGTAGATTCTTCGGAGGGCGTGGTCGGGCGGATGAGCTCCTCGGGGGCGTGGCCAGGCGGTGAGTTCCTCGGTGGCATGGCCTGGCCAGGTGAATGGGTCCTGCGGAGGTGTCGTGAAGCGGTTGAGTTCCTTGGGGGCGTGGCCAGGTGGATGGGCTCTTGGGGGGAGTGGCCAGATGCCTGTTTCCCTGGGGAGCTTGGTCTTGAGTGGCTGTAGCCAGTGCTCTGGAATTTTCAGCAAAGGGGCACAGTGGAGGAGGGTGCCTTCCTAGTGGGCCTGCCCAGAATTGGGCTCCGAGTGACGGGGTCATCACTTTTGGATTCTGACTGAAGGACACATCAGAAACAGGACATTATTTCCTTAGGATTGCGACTTAGGGGCAGAGAGTCAGAACCTGCAAGATTTTAAGAGGGCGTGACTTTACTTCCAGGGGCTCCGAATGAGAGTGGCCAGCCACCTGGATTAAAATATATGTATGAGCAACTTTGATTCCTTTTTTTTTTTTTGAGAAGGAGTTAGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCAATTCTCCCGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCGCCACCACACTCAGCTGATTTTTGTATTTTTAGTAGAGACCGGGTTTCGCCACGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCTGCAACTTTGATTCTTAGTAGGAAGCCAGAATTGCATCTGTGTGTGAGTGGCTGTGGAAAGAGATTTTGGTGTTCCCGGATTTCGAGCGAATGGTGGGCTTCAGTCTTCAATTCTGAGAAGGCGGGGCCAGAACACGTGGTCTGATAGTTGGCGGTGGTCTGGCGGGTGGAGATTCTGAGGTAGCAGGATTAGCACCTTAGGGCCCTCCCAGGGATGTGGCTAGGTGCTCTGAATTTCTGGTTGGGTGCATCTGGAACCTTCCACGTCTGTCCTGAGTGATCAGGAAAGAAATTCTCCTACTCTGGGTAGATGGATCCCGCCTCTAAGCCCATGCACTTCTCCGCAGGACCGCCTGTATTTCGTGATGGAGTACGTCACCGGGGGAGACTTGATGTACCACATTCAACAGCTGGGCAAGTTTAAGGAGCCCCATGCAGCGTGAGTCTCGGCCAACAGAGAATGGTCGGGGTGGTGGAAGGGGGCAGGATCCAGCCACTGACCTTCTGACGTCCCCACCCACCCCGTCCTCCAGGTTCTACGCGGCAGAAATCGCTATCGGCCTCTTCTTCCTTCACAATCAGGGCATCATCTACAGGTGAGCAGCCCCAGGAATTTCCGTGGAGGAAATCACGCCCCTGGAAGGGAAGGGATTTGAATATGTGGCTCTAGACTGCTGAACTCAACACTTCTTGCAATTCCTGCCCCACACCCCTGCATCGTCCAGGTACCTGAAGCTGGACAATGTGATGCTGGATGCTGAGGGACACATCAAGATCACTGACTTTGGCATGTGTAAGGAGAACGTCTTCCCCGGGACGACAACCCGCACCTTCTGCGGGACCCCGGACTACATAGCCCCGGAGGTAACCCCAACCCTGCTGCTCTGGTCACGCTTTGAGATCCCTTAGAGGGTGTAGCTGATGGTCCAGTATTCACCACGGGTGAGGCCTGACCCTCAGACCTTGTCATGAGTTGTGGCCTTCTTACACAGCCAGTCGTTCCTCCAGCCTCCAGCACAGGTGAGCTTGGCACTGAGCCTGCCAGGTGGGCCCAGCTGGGTCTCTAAATAGGTAAGGTGGGCAGCACCTGTGGGTGAATGTTCCAGGAGAGTGGGACCAGCTCGTAGGAATTCCAAGTAGGACCTGACCCTGGATCCTTCTGAGAAGGGGCAGACGATTTCTAGTGTACTCTGAGTGGGTGTGGCCTGTCCCCTGCCAACACTGAACATGTCCGGACTATCTTCTGAATACTTTAAACTGGGCAGGGCTCTCCCTGGAGTATTCAGTTGGATGGAAGCTTATTTCCTGTGTTGTACGTGTTTCTCTGATGTAAGTGTACTGGACTTCTGTGCTGCATTTTTCAAGAGGGCAGGATCAGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTAACAAAATTACACAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCATAACTTCATAACTTCATCTCAAAAAAAAAAAAAAAAAAAAGCCGGGTGCAGTGGCTCACACCTGTAATTCCAGCACTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGGGCAGGGTGAGATCCCTAAGGTTCTGGGAGAGCAGATGCTGTCCTATGAGTATTTTAAGTGGGTGGGGTATTACCCGACTTTGTTAAAGGGGTGGGGCTGATGTTCTGAATGTACGTATAGATGGATAAAGCACATGCCTGTAGTCCCAGCTACTTGGGAGGATGTGCCTGACTCGTGCCCAAATAATCAATGTCAGTGATCACAAAACCTGGCTGGTAATCAGAATCATCTGTAGAAAATTTGAAAACTGAGGCCAGACATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACTTGAGGTCAGGAATTCAAGACCAGCCTAGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGATGTGTGCCTGTCAACCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCATCCTGGGCTACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAGATAAGAAAATTTGAAAACTACACACATATTCCTGACTCTGACACAAATATTCTAGGTGGGTGGAACCAGTGACTTGGCCGTTAGGTAGTCTTTCTATTTGAGGCCAAATGAATGTTTGAAGTAGGTATGCTTTGTTTCCAGAATATTCCAAAAGTTAGATCGCTGGCCAAAATATTCAGAGTGGAGGCTGGGCGTGGTGGCTCACTCCTATAATCCCAGCACTTTGGGAGGC
Task1_train_27519
This genomic variant is located on Chromosome 19, within the PRKCG (protein kinase C gamma) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Spinocerebellar ataxia type 14
ATGGAACAAACTGTCACCTACCCCAAGTCGCTTTCCCGGGAAGCCGTGGCCATCTGCAAGGGGGTGAGAGCCCCCTGACTCCCAGCTTCTCCAGGCTCACAACCACACACCCCATTGCTGTCTCTGTGCCTATTAGAAAAATGCTCCCATTCCTGAAGTCACTTTACTTCCATCTGTTGGAAAAGTTGATATGATGCATAGGTTTTGTTAGAACAATGATTTCCAGCCCTGTTGCCACGAGGCCTGGAGATGGCCTCTGTCTCATCCTTCTCTGTGACTCCCACTCCCCAGCTCCCTGCTTGCAGGAAGTGCTGAAAGTCCAGGGTGTCTGTCTGTCTAGAACTGGGTGGGTCAGGTAAACCCAACTTCTGCAGCTTTTCTTCCTGTGTGAACTTGGGTGAGTCACCAAAACTTTGTGAGCTTAACTCTCTTCAGGGGTTATGGAGTTGACACAGAAGAAAGCACCTGGCCCATAGCAGATTTTCAGCCCATGTCAGCACCTTCTGCGTCTAGCTGCTCTCTCTGCATCTCCCTGACAGTCTCTCTGGTTTCTGTCTCATGCCTCCCCTCCATCTGCATACGATGGGGCTCTCTGTGTTTCTTCCTTTTCTCTGTGTCTCCTTCTGCATCTCTGTCTACACTTTTGGGCCTTTGTCCAACCCCCCTACCCCCCATCTCTGTCCCCTCCTGTGTCCACTCTCATACACACACGCTACATCTCACCCTCCTCTCCTGCTGGCTTTCTGTCCTCCCTTTTCTCTGGGTCTCTGTCCCCATATTTGGTCTTTATTCCTCCCTCTGGGTGTGTGTTTCCTGGGTCTCTATCCTTCTCTCTTTCTGAATCTCTGTCCCCCTGGGTCTCCTCTGTCTCCTCCCTTCTCTGAGTTTCTGCCTTCTTACCTGGGGTCTCTGTACCACCCTCTGAATTTCTATTTCCCCTTTTCTCTGGGTCTGCAACCTCTCTTCCCCCATTCCCTCCCTCTTCCCCTTCATCTCCTCTACCCTTCCCTCCCTCCCCCTACCGACCTCCCTCTGTCCTTCACTCTCCCCTTCCCTCCCTCCCCCTACCCTTCCCTCTCCCCGTCCCTCTCTCCCCTTCCCTCTCTCCCCCTACCCCTTTTCCCTCTCCTCTTCTCCATCTCCCTCATGATTTGTTCTGTTTCTCTGTGTGTCCCTGGGTCTCTGGGTATGAATTTCATCTGCTATCATTTTCATGTATCCTCTCCTTCTTCCTGTCTCTCTCTCTCTCTCTCTCACTCACTCTCACCCTCTGTCTCTCTCTCTCTCTGTCCCTCTTCCTCTCTCTCTCCTCTCTGTCTCTCTCTGTCTCGCTCTCTGTCTGTCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTCTCTCTCTCTCCTTTCTTTTCCCTTCCTCCCTCCATTTGCCTGTTTCCCCTGGCTGTTCTTATCTCTCCGGATCTCATGCCTGTGTCTCTTGGTTCCTCCATCTGCCTGTCTCTGTCCCTCTTTCTCTGGGTCTACCTGTCCGGCACTCTGTCTGTTTGTCTGTCTGTCTCTCTCTGTGTTTCCCACAGTTCCTGACCAAGCACCCAGGGAAGCGCCTGGGCTCAGGGCCTGATGGGGAACCTACCATCCGTGCACATGGCTTTTTCCGCTGGATTGACTGGGAGCGGCTGGAACGATTGGAGATCCCGCCTCCTTTCAGACCCCGCCCGGTCAGTCACCCTCCAGGCAACAAAAACCTGGTCCCTGAAGGGGTGGGGTTCCCCTGGGCCTCAATATACCTGTATGTGGGGGTGGGGTTCCCTCTGCAGAGCCCCCCGCCCCCAACAAAAGGAGGTGCAGACACCATGAAGCATGAATAGAGATTCTGCAGGAGACAGGAGATGAGACTGGGGTACACAGAGGGACACCCGAGGAGCCCTCGGAGCTGCTTAACTTTCCCTCCCCCACGTCTCCCACAGTGTGGCCGCAGCGGCGAGAACTTTGACAAGTTCTTCACGCGGGCGGCGCCAGCGCTGACCCCTCCAGACCGCCTAGTCCTGGCCAGCATCGACCAGGCCGATTTCCAGGGCTTCACCTACGTGAACCCCGACTTCGTGCACCCGGATGCCCGCAGCCCCACCAGCCCAGTGCCTGTGCCCGTCATGTAATCTCACCCGCCGCCACTAGGTGTCCCCAACGTCCCCTCCGCCGTGCCGGCGGCAGCCCCACTTCACCCCCAACTTCACCACCCCCTGTCCCATTCTAGATCCTGCACCCCAGCATTCCAGCTCTGCCCCCGCGGGTTCTAGACGCCCCTCCCAAGCGTTCCTGGCCTTCTGAACTCCATACAGCCTCTACAGCCGTCCCGCGTTCAAGACTTGAGCGGAGCCCGATATTCTCCCTGACCTTAGCGTTCTGGACTCTGCCCCAATCGGGTCCAGAGACCACACCACTAACCATCCCCAACTCCATGGGGTTCGAGACTCCATCTTGGTAGTTCTGTGCCTCCCCCCAGACCCCGCCCCTGGGGAAATAGCCTCACGGGGTTGGCTGTTCCAGACTCAGGTTCCAGAACAGCCCTCGGCCTCCGAGGCTCCCCGCCTCCACTCTAGTTCTAGATGAGTGGGAGGCGTGCCCCCCTCCTCCAGTACGTCCCGCTGCTGTGCTCTGGGGATTTCTGGGATATATGGAGGATTCTTTCCCCAGAGGCTCCCAATCAGCTTTTGTTCTAGACTTCCCCATCCCGAAGCCATCACTTCTCCCCGCAGCCCGCCTGCCGTGCATGGCTCCTGTCTGGCTCGGACCCACCCCAACTCTCCCCAGTGCCTGCCACTCTCTGGGACTCTCCTCCTCCCCTCCTCTTCCCTTAGCCTCTCCCACCCGGCCACAGCTGCTGGAGAATAAATTTGGGATGCTGATGCTGAAGTGTTTGGATATTTTCTTGTAAGCTTGGAGAATGAACGGGGTGTGGAGGCGGGACAGTGACTGTACATAGACACAAACAGAGAAGGAAAGCACGGAGACCCACAAAGTGAGAGGGGAGACACCCACTGCAGGGGAGCAAGCAGAGAAGCGCGCGCAGACAGAGGCAGGAGACCCAGACAGACAGAGACAGGGAGAGAAAATATCACAGAGGGCACCAACGTGGACAGTGCACAGCGAGAGAGGGGCACGGAGATCACTGAGAGTGCCAGGTGGCGACCCCCGCGCAGAGACCCAGCGCGTCCGTGTTCACCAGAGCAGCCACGCAAGCTCACATGCACCCCCAGGCTCAGACACCGGGGAGAAGTCCTTCCCAAGCGGGGAGATCACAGTCTGGCCTCTTCTTGAGAGACCTAGAGACCTGATCAGAGGAAGAGACCCCCACGCCAGAGCAACCAAAAACAGCCAGAACCCGAGAGCCTAGGAATCGGCGACGGAGGCACACGGCAGGCAGACGCGCCTTCTGGGCCTCTTTCCCTTGACCCACTTGAGAGTCTGGGGAGTGCCGGGGACCGTGCAGATGGACTACATTTCCCCGCAGGCCTCGCGGCAGACCCTTCCCCCAAGTGCGGCTCCTTGCCGCCAGGGCTGATGGGAAATGTAGTCTCCGGTCAGGGCCAGACCAGTGGAGCGGTGTGCCTTGTCTGTGTGTTTGGAGGGGACTGAGCCCCAAAGCTTCGCAGTCTTCCTTGCGGACCCGGGCACGTCTTCTTCCCTGCAGTCTCCTGGGTTTCCATGACCCGGTCCGGGTGGATGCTGGGGCTGCCCCTCTCTCCCTCATCACCGCCGCGACACCCCCATCCAGTGCCCGCAGGCCCCAGCCCCCGCTCCGACCCTCGGCGGGCGGCCTGCCCCTTTAAGAGTGGCCCCGCTGACATCACGGCGGGGGGGGGGGGTGGCCCGGCTCCTGGCTCCGCGGCGGCTGCAGGACCCGACTCCGCTCTGCGCCCGCCCGCTGCTGTAGGGACCCCGGCCCGGGACGCCCCCTCCCGCTTCCTGCAGCCGTCCAGACCCCAGGCTCCGCCCCAGGCCTGGCTAGAGCCCCAGTCCTCGTCAGGGGACCCCC
ATGGAACAAACTGTCACCTACCCCAAGTCGCTTTCCCGGGAAGCCGTGGCCATCTGCAAGGGGGTGAGAGCCCCCTGACTCCCAGCTTCTCCAGGCTCACAACCACACACCCCATTGCTGTCTCTGTGCCTATTAGAAAAATGCTCCCATTCCTGAAGTCACTTTACTTCCATCTGTTGGAAAAGTTGATATGATGCATAGGTTTTGTTAGAACAATGATTTCCAGCCCTGTTGCCACGAGGCCTGGAGATGGCCTCTGTCTCATCCTTCTCTGTGACTCCCACTCCCCAGCTCCCTGCTTGCAGGAAGTGCTGAAAGTCCAGGGTGTCTGTCTGTCTAGAACTGGGTGGGTCAGGTAAACCCAACTTCTGCAGCTTTTCTTCCTGTGTGAACTTGGGTGAGTCACCAAAACTTTGTGAGCTTAACTCTCTTCAGGGGTTATGGAGTTGACACAGAAGAAAGCACCTGGCCCATAGCAGATTTTCAGCCCATGTCAGCACCTTCTGCGTCTAGCTGCTCTCTCTGCATCTCCCTGACAGTCTCTCTGGTTTCTGTCTCATGCCTCCCCTCCATCTGCATACGATGGGGCTCTCTGTGTTTCTTCCTTTTCTCTGTGTCTCCTTCTGCATCTCTGTCTACACTTTTGGGCCTTTGTCCAACCCCCCTACCCCCCATCTCTGTCCCCTCCTGTGTCCACTCTCATACACACACGCTACATCTCACCCTCCTCTCCTGCTGGCTTTCTGTCCTCCCTTTTCTCTGGGTCTCTGTCCCCATATTTGGTCTTTATTCCTCCCTCTGGGTGTGTGTTTCCTGGGTCTCTATCCTTCTCTCTTTCTGAATCTCTGTCCCCCTGGGTCTCCTCTGTCTCCTCCCTTCTCTGAGTTTCTGCCTTCTTACCTGGGGTCTCTGTACCACCCTCTGAATTTCTATTTCCCCTTTTCTCTGGGTCTGCAACCTCTCTTCCCCCATTCCCTCCCTCTTCCCCTTCATCTCCTCTACCCTTCCCTCCCTCCCCCTACCGACCTCCCTCTGTCCTTCACTCTCCCCTTCCCTCCCTCCCCCTACCCTTCCCTCTCCCCGTCCCTCTCTCCCCTTCCCTCTCTCCCCCTACCCCTTTTCCCTCTCCTCTTCTCCATCTCCCTCATGATTTGTTCTGTTTCTCTGTGTGTCCCTGGGTCTCTGGGTATGAATTTCATCTGCTATCATTTTCATGTATCCTCTCCTTCTTCCTGTCTCTCTCTCTCTCTCTCTCACTCACTCTCACCCTCTGTCTCTCTCTCTCTCTGTCCCTCTTCCTCTCTCTCTCCTCTCTGTCTCTCTCTGTCTCGCTCTCTGTCTGTCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTCTCTCTCTCTCCTTTCTTTTCCCTTCCTCCCTCCATTTGCCTGTTTCCCCTGGCTGTTCTTATCTCTCCGGATCTCATGCCTGTGTCTCTTGGTTCCTCCATCTGCCTGTCTCTGTCCCTCTTTCTCTGGGTCTACCTGTCCGGCACTCTGTCTGTTTGTCTGTCTGTCTCTCTCTGTGTTTCCCACAGTTCCTGACCAAGCACCCAGGGAAGCGCCTGGGCTCAGGGCCTGATGGGGAACCTACCATCCGTGCACATGGCTTTTTCCGCTGGATTGACTGGGAGCGGCTGGAACGATTGGAGATCCCGCCTCCTTTCAGACCCCGCCCGGTCAGTCACCCTCCAGGCAACAAAAACCTGGTCCCTGAAGGGGTGGGGTTCCCCTGGGCCTCAATATACCTGTATGTGGGGGTGGGGTTCCCTCTGCAGAGCCCCCCGCCCCCAACAAAAGGAGGTGCAGACACCATGAAGCATGAATAGAGATTCTGCAGGAGACAGGAGATGAGACTGGGGTACACAGAGGGACACCCGAGGAGCCCTCGGAGCTGCTTAACTTTCCCTCCCCCACGTCTCCCACAGTGTGGCCGCAGCGGCGAGAACCTTGACAAGTTCTTCACGCGGGCGGCGCCAGCGCTGACCCCTCCAGACCGCCTAGTCCTGGCCAGCATCGACCAGGCCGATTTCCAGGGCTTCACCTACGTGAACCCCGACTTCGTGCACCCGGATGCCCGCAGCCCCACCAGCCCAGTGCCTGTGCCCGTCATGTAATCTCACCCGCCGCCACTAGGTGTCCCCAACGTCCCCTCCGCCGTGCCGGCGGCAGCCCCACTTCACCCCCAACTTCACCACCCCCTGTCCCATTCTAGATCCTGCACCCCAGCATTCCAGCTCTGCCCCCGCGGGTTCTAGACGCCCCTCCCAAGCGTTCCTGGCCTTCTGAACTCCATACAGCCTCTACAGCCGTCCCGCGTTCAAGACTTGAGCGGAGCCCGATATTCTCCCTGACCTTAGCGTTCTGGACTCTGCCCCAATCGGGTCCAGAGACCACACCACTAACCATCCCCAACTCCATGGGGTTCGAGACTCCATCTTGGTAGTTCTGTGCCTCCCCCCAGACCCCGCCCCTGGGGAAATAGCCTCACGGGGTTGGCTGTTCCAGACTCAGGTTCCAGAACAGCCCTCGGCCTCCGAGGCTCCCCGCCTCCACTCTAGTTCTAGATGAGTGGGAGGCGTGCCCCCCTCCTCCAGTACGTCCCGCTGCTGTGCTCTGGGGATTTCTGGGATATATGGAGGATTCTTTCCCCAGAGGCTCCCAATCAGCTTTTGTTCTAGACTTCCCCATCCCGAAGCCATCACTTCTCCCCGCAGCCCGCCTGCCGTGCATGGCTCCTGTCTGGCTCGGACCCACCCCAACTCTCCCCAGTGCCTGCCACTCTCTGGGACTCTCCTCCTCCCCTCCTCTTCCCTTAGCCTCTCCCACCCGGCCACAGCTGCTGGAGAATAAATTTGGGATGCTGATGCTGAAGTGTTTGGATATTTTCTTGTAAGCTTGGAGAATGAACGGGGTGTGGAGGCGGGACAGTGACTGTACATAGACACAAACAGAGAAGGAAAGCACGGAGACCCACAAAGTGAGAGGGGAGACACCCACTGCAGGGGAGCAAGCAGAGAAGCGCGCGCAGACAGAGGCAGGAGACCCAGACAGACAGAGACAGGGAGAGAAAATATCACAGAGGGCACCAACGTGGACAGTGCACAGCGAGAGAGGGGCACGGAGATCACTGAGAGTGCCAGGTGGCGACCCCCGCGCAGAGACCCAGCGCGTCCGTGTTCACCAGAGCAGCCACGCAAGCTCACATGCACCCCCAGGCTCAGACACCGGGGAGAAGTCCTTCCCAAGCGGGGAGATCACAGTCTGGCCTCTTCTTGAGAGACCTAGAGACCTGATCAGAGGAAGAGACCCCCACGCCAGAGCAACCAAAAACAGCCAGAACCCGAGAGCCTAGGAATCGGCGACGGAGGCACACGGCAGGCAGACGCGCCTTCTGGGCCTCTTTCCCTTGACCCACTTGAGAGTCTGGGGAGTGCCGGGGACCGTGCAGATGGACTACATTTCCCCGCAGGCCTCGCGGCAGACCCTTCCCCCAAGTGCGGCTCCTTGCCGCCAGGGCTGATGGGAAATGTAGTCTCCGGTCAGGGCCAGACCAGTGGAGCGGTGTGCCTTGTCTGTGTGTTTGGAGGGGACTGAGCCCCAAAGCTTCGCAGTCTTCCTTGCGGACCCGGGCACGTCTTCTTCCCTGCAGTCTCCTGGGTTTCCATGACCCGGTCCGGGTGGATGCTGGGGCTGCCCCTCTCTCCCTCATCACCGCCGCGACACCCCCATCCAGTGCCCGCAGGCCCCAGCCCCCGCTCCGACCCTCGGCGGGCGGCCTGCCCCTTTAAGAGTGGCCCCGCTGACATCACGGCGGGGGGGGGGGGTGGCCCGGCTCCTGGCTCCGCGGCGGCTGCAGGACCCGACTCCGCTCTGCGCCCGCCCGCTGCTGTAGGGACCCCGGCCCGGGACGCCCCCTCCCGCTTCCTGCAGCCGTCCAGACCCCAGGCTCCGCCCCAGGCCTGGCTAGAGCCCCAGTCCTCGTCAGGGGACCCCC
Task1_train_27520
A genomic change on Chromosome 19 affects PRPF31 (pre-mRNA processing factor 31). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
TTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGATCCACCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTTTTACAGCCTGTTTACCCAAAAGTCTTAATATGCGCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGCTTTATCAAATAATTACTTCATTAATCACAAATGTGTGAAGTGCCTTACTGTAGACACGCAGAGCGTGCGGGACACGTTATCACAAAGCAACCTCCTGTAGTCTAGAGTGGGGCGTGTGGGTCAGGGAGGTGGAACGTGAGAGCTGAAGGCTGAGGAGATGCTGGGCTACTAAGAAGTGAGGAGAGCCAGACGCCATGGCTCACTCCTGTAATCCCAGCACTTTGGGTGGCCCAGGCGAAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACACAGTGAGACCCTGTCTCTACAGAAAAATTTAAAAATTAGCCGGGCGTGCTGGTGCGTGCCTGTCATCTCAGCTATCGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGTGATCGAGGCTGCCGTGAGCTATGATGGCGCCACTGCACTGCAGCCTAGGTGACAGAGCAAGACATGGTCTCAAAAAAAAGAAAAGAAAAGAAAAAACAAAGTGAAGGAAAGGGCCACTTTAGTTACAAGGGACTCCTGTACAAAGACCTGGAGGCGGGAAGAGACCGATAATGTAACCAACTCAAGTTTCTGCTACTCAGAGGCAGAGGAAGTGGGGGGTGGTGAAAGTAAAGCAGCTTTACTGATCAAATGCTCGCAGATGAGAAATGGCCAAGCTAATGTCTTTAGAAGACCATTTCAAGCTTTAGGCTGGGGAGAGGGGCTTAAAAAGGGGAACTTTGAATGGGAGGCATACAGGAGTGGTGCTGGGTACAAGGTATGTGTGTCTTGCTCCGAAGGCTGTCTTGAGTCACGGGCCACCTGGAGCATGGGCTGGTGTCAAGTCAACAATGGCCACGTTGTAGATTGATCGCCTTGAGGTGATCTCTGGAGTTTTGCAGCTGGGTTTCCATACCTAGTTTGTTTCAAGATTAGCCCCTGCGGCGAGGCGCGGTGGCTTACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTCGCTCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCTTACATAGTGAAACCTTGACTCTACAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAAGTGAGCCAAGACTGCGCCACTGCACTCCAACCTGGGTGTCAGAGCCAGACTCCATCTTTAAAAAATAAATAAATAAAGATTAGCCCCTGGAACTTCTAAGTAAGCACATAGATAAGCCAGCAGTGCAAGACAGTATCTAGTGGGAAAGGAGGGAAACAAAGAATTTCAAAGTATGTTTTCAAGGCTAAAGGCAAGAAAGGAATAAGAAAGTTTGCAAATGCATTTGGAATCTACACCACTTGGTTCCAGTAAGTCTTAGCAAGGTGGCGGTCATAGGGGTGTGCTGCGTCTTGCACAGGTCGGAGCTGGAGACTCGCCAGTGAACAAAACAAACTAAAGCACCTGTTGTCGTGGAGCCTGCATGCTAGTGGGGTTGATAAAGAAGGACCAGGGTCTTCTGGGGGAGAATCATCGCTCAGTAATAAGGAGGGACTTTGTCGGGGCAAGTTTTTAGGGAACGCTGCTGTCCCTCCCCAGGCCTCGGGATGTCTCTGGCAGATGAGCTCTTAGCTGATCTCGAAGAGGCAGCAGAAGAGGAGGAAGGAGGAAGCTATGGGGAGGAAGAAGAGGAGCCAGCGATCGAGGATGTGCAGGAGGAGACACAGCTGGATCTTTCCGGGGATTCAGTCAAGACCATCGCCAAGCTATGGGATAGTAAGATGGTAAGAGGACAAGAGGTGTTCCTAGCAGGGGGCTCTAGACAGAATCTCCCAGAAGGGGGTGATACAGGCTTCTTTTTGAAGAGTGCTGGATTCTGACTGTCTTCTCCTTTCCTACAGTTTGCTGAGATTATGATGAAGATTGAGGAGTATATCAGCAAGCAAGCCAAAGCTTCAGAAGGTGCTTCCTCCCACTCTGTGCCCCTCCCCATCTCCTGTCTCTCCTGCCAGGCCCCCTGGCTCCCTGGCTGCTTGTGGCTGGGTATATCTCCTTCTCAGCCTTTTCCAGAGCCTTCTTTTTTTTTTGTTTCACCCCAACCCGTTCCCTTTTCCACTAAATATATATTGCATTGTAAAGCTCATGCTTCTTAAGTCCTTCCTGTGTGCTGAGCTTACTGATCATGATAGGACTCAGCTTGAGGTTTCCCAGACTTCACTGATTCACATGACCGGTTACAGGGTTTTTGCCACATCTATAAGCCGCTTATCCTATTATTTGCTTAACATATTCTTTGAGTCTAGGACTTTTTTTCTTAAATTTATCTGAGAAGGAAGCAAATTGCTACCATGAATGGAAAACTGGTATCATTTGGCAAAGACAAAGTCACTGTATAAAAATAGATATATAATTATTTAGGAACCACCTAAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCATGAGTTCAGGAGATCGAGACCATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATAACCTAAAACCTTTTCTCATGCCCAAATTGAGAGAACACTAGCTTATCTCATGAGTGCTCAGACTCACTCTTAAGAGGGCAGTCCTGTTACCATTCCTATTCTTTTTTTTTTTTCCTTGAGATAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGTTCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTCCCTCAGCCTTATGTATAGCTGGGATTACAGGTATGCAACACCATGCCTGGCTATTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTAGTCTCGAACTCCTGACCTCAAGTAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACGCCCAGCCTTCCCATTCTTCTTGAATGGAATTTGTTGATGACAGGAAGCCATAGGAGGTTTCTGGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTT
TTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGATCCACCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTTTTACAGCCTGTTTACCCAAAAGTCTTAATATGCGCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGCTTTATCAAATAATTACTTCATTAATCACAAATGTGTGAAGTGCCTTACTGTAGACACGCAGAGCGTGCGGGACACGTTATCACAAAGCAACCTCCTGTAGTCTAGAGTGGGGCGTGTGGGTCAGGGAGGTGGAACGTGAGAGCTGAAGGCTGAGGAGATGCTGGGCTACTAAGAAGTGAGGAGAGCCAGACGCCATGGCTCACTCCTGTAATCCCAGCACTTTGGGTGGCCCAGGCGAAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACACAGTGAGACCCTGTCTCTACAGAAAAATTTAAAAATTAGCCGGGCGTGCTGGTGCGTGCCTGTCATCTCAGCTATCGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGTGATCGAGGCTGCCGTGAGCTATGATGGCGCCACTGCACTGCAGCCTAGGTGACAGAGCAAGACATGGTCTCAAAAAAAAGAAAAGAAAAGAAAAAACAAAGTGAAGGAAAGGGCCACTTTAGTTACAAGGGACTCCTGTACAAAGACCTGGAGGCGGGAAGAGACCGATAATGTAACCAACTCAAGTTTCTGCTACTCAGAGGCAGAGGAAGTGGGGGGTGGTGAAAGTAAAGCAGCTTTACTGATCAAATGCTCGCAGATGAGAAATGGCCAAGCTAATGTCTTTAGAAGACCATTTCAAGCTTTAGGCTGGGGAGAGGGGCTTAAAAAGGGGAACTTTGAATGGGAGGCATACAGGAGTGGTGCTGGGTACAAGGTATGTGTGTCTTGCTCCGAAGGCTGTCTTGAGTCACGGGCCACCTGGAGCATGGGCTGGTGTCAAGTCAACAATGGCCACGTTGTAGATTGATCGCCTTGAGGTGATCTCTGGAGTTTTGCAGCTGGGTTTCCATACCTAGTTTGTTTCAAGATTAGCCCCTGCGGCGAGGCGCGGTGGCTTACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTCGCTCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCTTACATAGTGAAACCTTGACTCTACAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAAGTGAGCCAAGACTGCGCCACTGCACTCCAACCTGGGTGTCAGAGCCAGACTCCATCTTTAAAAAATAAATAAATAAAGATTAGCCCCTGGAACTTCTAAGTAAGCACATAGATAAGCCAGCAGTGCAAGACAGTATCTAGTGGGAAAGGAGGGAAACAAAGAATTTCAAAGTATGTTTTCAAGGCTAAAGGCAAGAAAGGAATAAGAAAGTTTGCAAATGCATTTGGAATCTACACCACTTGGTTCCAGTAAGTCTTAGCAAGGTGGCGGTCATAGGGGTGTGCTGCGTCTTGCACAGGTCGGAGCTGGAGACTCGCCAGTGAACAAAACAAACTAAAGCACCTGTTGTCGTGGAGCCTGCATGCTAGTGGGGTTGATAAAGAAGGACCAGGGTCTTCTGGGGGAGAATCATCGCTCAGTAATAAGGAGGGACTTTGTCGGGGCAAGTTTTTAGGGAACGCTGCTGTCCCTCCCCAGGCCTCGGGAAGTCTCTGGCAGATGAGCTCTTAGCTGATCTCGAAGAGGCAGCAGAAGAGGAGGAAGGAGGAAGCTATGGGGAGGAAGAAGAGGAGCCAGCGATCGAGGATGTGCAGGAGGAGACACAGCTGGATCTTTCCGGGGATTCAGTCAAGACCATCGCCAAGCTATGGGATAGTAAGATGGTAAGAGGACAAGAGGTGTTCCTAGCAGGGGGCTCTAGACAGAATCTCCCAGAAGGGGGTGATACAGGCTTCTTTTTGAAGAGTGCTGGATTCTGACTGTCTTCTCCTTTCCTACAGTTTGCTGAGATTATGATGAAGATTGAGGAGTATATCAGCAAGCAAGCCAAAGCTTCAGAAGGTGCTTCCTCCCACTCTGTGCCCCTCCCCATCTCCTGTCTCTCCTGCCAGGCCCCCTGGCTCCCTGGCTGCTTGTGGCTGGGTATATCTCCTTCTCAGCCTTTTCCAGAGCCTTCTTTTTTTTTTGTTTCACCCCAACCCGTTCCCTTTTCCACTAAATATATATTGCATTGTAAAGCTCATGCTTCTTAAGTCCTTCCTGTGTGCTGAGCTTACTGATCATGATAGGACTCAGCTTGAGGTTTCCCAGACTTCACTGATTCACATGACCGGTTACAGGGTTTTTGCCACATCTATAAGCCGCTTATCCTATTATTTGCTTAACATATTCTTTGAGTCTAGGACTTTTTTTCTTAAATTTATCTGAGAAGGAAGCAAATTGCTACCATGAATGGAAAACTGGTATCATTTGGCAAAGACAAAGTCACTGTATAAAAATAGATATATAATTATTTAGGAACCACCTAAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCATGAGTTCAGGAGATCGAGACCATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATAACCTAAAACCTTTTCTCATGCCCAAATTGAGAGAACACTAGCTTATCTCATGAGTGCTCAGACTCACTCTTAAGAGGGCAGTCCTGTTACCATTCCTATTCTTTTTTTTTTTTCCTTGAGATAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGTTCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTCCCTCAGCCTTATGTATAGCTGGGATTACAGGTATGCAACACCATGCCTGGCTATTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTAGTCTCGAACTCCTGACCTCAAGTAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACGCCCAGCCTTCCCATTCTTCTTGAATGGAATTTGTTGATGACAGGAAGCCATAGGAGGTTTCTGGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTT
Task1_train_27521
A variant found in Chromosome 19 affects PRPF31 (pre-mRNA processing factor 31). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Retinitis pigmentosa 11
CTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCC
CTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGAGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCC
Task1_train_27522
The gene PRPF31 (pre-mRNA processing factor 31) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Retinitis pigmentosa 11
GGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGG
GGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCCCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGG
Task1_train_27523
This sequence variant lies in CNOT3 (CCR4-NOT transcription complex subunit 3) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
TGGATAGCACTGTTTGCCAGATGTTCCCTTCTTTGTGGGTGAGGACTCTTTTGGTGTGACTTCCCTCTGTATTGAGGCTCTTGTTCCTCAGTATGGGGCTGTTTCTGTCTTTACAGTAAGTGACTACTCCAGGGTTCCCTGCCCTGCACACGTAGAGTGGGAGCGGCCCGTGGATCCCAGGGAACTGTGCTTTTCATTGTAGGCCCCCTCCCTGGAGGGGAAGAGGGCAATCTCCGCTGGTATCTCAGAAGTCTTCTTCTGAGGCATAAGCCTCTCTTCCCAGGGCTCCCCTGGTCTCGCTGTCAGGCCCTAAGGTATGTCTTCCCTTGGACTAAAGCTCCTTGGAACTCCCTTTTGACCTCAGTCTTCTCTGGGTTCCAGGTAACTTCCTTTAAAATAAAGACGCTCCTCTCTTGAAGTTTTGGGTTCCTGCCCTGATGGTCTATGTCTCCCTGACTCTAAATTACCAATCCACTTGCTATGGGATTCCTCCGTGAGTGCAGATCGGCTCCCTCACAGCTGCGGTACCTTTGCACCCTCTTATCTTAGTAAGATTTCTGTCTTCTCCCAGGTCTCTCTTGGGTACTGCCTTCTGCCCCCAAATCTCTAAGCCTTCTTGGTATTAGCTTCTTTGGGTTAGGAGTGTTATTTCCTTTTGGTTTAAGGATCCTGCTCTGGAATAAATGTCTTGGTGGTTTGAGTCCCTTCTACTTGGCATTCAGCCCTGTCTGCATGAGCGGGTTCAGCTCTTCACAGCTTTCGGCATCTCTGCTCGCCGTCGTTTTCCCCCACCCCCAATCTTTCTTCTCCTACCTACAGCTTACACACACACACACACACGCCCTTCTCTGTGAGCTGCCAGTTTCATTTGTCTCCTGACTTGTCTGAGGGATGACCTCTCCTAGCCACCTCTGCCCAGCCCCTCTGAGTAGGAAGTGTGATCTCCAGGGCTAATGCCTCCATCCCAGTCATCAGCTGTGTGCAGCATGACTGTCCTGCTCTGAAAAACCTTTTTGAGTGTATTCTGGGGAGAAGGTACTCCATGCTCTAGGAATTTTCCACTTCCTGAGTCAGAGGCACACAAAAAAGTATGTAACTTTTCTTGTTTCAACAAACTTATGGGGTCCCCTGTTGGCCAGACACTATGCTGGGCAGTCAAGCGAGCATCAGGAGAACTGGGGCTGGTCTCTTGTCAGATAGCAAATGCTTCTTCTCTTTACCAGTCCCACCTACCTCACTATGCTGACTAGGTCCATGTCTCTGGGTTTTTACCAGCCAGGGAATACGTGTTAATTCCTCTCCAATCTCTCCTAGCAGCGTCCGTCTCCAAGAGAGTATGAAGAGAGTGCGTCTGTAGGGCAGGGAAGATGGCGGACAAGCGCAAACTCCAAGGTACTAGACTGACTTCCTGCTGCACCTGTAGCCACATGCTCCCTCTTCTGAGGACTGCTCTTTAGATACCTGCCACCTGGGCAGGATTCTCACAGCCTTGTTCCTCCCTGGCCAGGTGAGATTGATCGCTGCCTCAAGAAGGTGTCCGAGGGCGTGGAGCAGTTTGAAGATATTTGGCAGAAGGTACAGGGGCTGAGACCCTAATAATCTGGGTCTTCAGAGAGGAGGGCACAGGAAGGCGGCTCAGGACCTCTGGGTGTTGACCAGCGGGAGGGGCTACATATGCAGATGCTGAGGACCTAAGAGAATCAGCTCTAAGATGGATTGGGGGTAGGGGTTGGGGGGGGTCCTCGAGTCCCTAGCATAAGGAAGAATCACTGGAGTGGGTACTGGGACATCCCCTCCCACACTGACTTCTCAATTCTCTCCATCCCTCAGCTCCACAATGCAGCCAACGCGAACCAGAAAGAAAAGTATGAGGCTGACCTAAAGAAGGAGATTAAGAAGCTACAAGTGAGGGGGCTGGGGGCCTGGACGCCTTTGTCCTGAGGGTAGAGGGAACTGGGAGAGTGGACTGCTGGGTCCCAGGGAGAAGGAGCTGTGGGCCCCAGTTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGGAAGGTCACCAGATTCTTGAGATCCCAAGGGGCGGAGGCAGAGCGGCCAGACCCCAGAGGTCCTCAAGAGAAGTAAGGTTTCTGCACCTAAGGGAAGTGAAGAGGCAGCGGACTCAGAGCTCAGAAAGTAGGGTCACGAGGCTCAGGTCGGAGTGTCTGCTGGCCCTTAGTCAGCTCCTTTCCCACCTTTGAGAGCCCCCCTGCCAACTGCACTCTCTACAGCAAATGGAACGGTTCAAAGTTGTGGAACGAGAGACCAAAACCAAAGCTTACAGCAAAGAGGGCCTGGGCCTGGCCCAGAAGGTAGATCCTGCCCAGAAGGAGAAGGAAGAGGTTGGCCAGTGGCTCACGGTGAGTTGGGGTAGAGAAGAGGAGGTGAACTCTGAGGATCCTGAGCCCTGGGTGTAGGCGGAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATGGGGATGGGCATGGGAATGGGCTGGCCAGCAGGAGGCCAGTCATTTATGCTCCTGGGAGTTGGGGCCTGGATTCCTCAGGCGGACAGGGCCAACAGCCGGGATTAGGGATTTGAGAGACAGGATTGGGAGGGCTTAGCAGCTGCACGCGTGGGGCAGGAAGGAGGTCAGACAGAATCTCAGGGTCCCCTGGGTGTCTGGGTAGACCGTGGGGCCTTTGTGAAGAGGAGCGACTTGGGGGAAGGTGAGTGCAGGTTGAGCTTGGGCCACAGAGTAAAAGTGAGACCTGAAGGACACCCATGGCAAGAGGCCTCCTGGCACCCAGAGGGCCCTGGTCCTAGGGAGAGCACAGTGGGTAGAGACAAGGCAGAACATGGAGAAGGCAGAGAACCAGGCCTGAAGGAAGACAGGAGTCTGGGACAAAGCTGGATGTTGGGGTCCCAGGTTCTAAAATCCGGGATTGTGGGGTATGAGTTCAAAGGGATACAAACTGTACAGACTTGCTGAAACCAGAAAGACAGGGAGGGGAGAGCCGGGTCCTCAGGGAAGCTGTGGGTGGGAGAGGGTCAGGAAGTGGAAGATGACAGGGTTGGGTGTCAGACTCTGAGGGGTTTGGGAACCAGGGGCTTTCGGGGAGATGATGGGTCCTTGAACAGAGCAGAGATTTGGAACCAAGGCTAAGATGTTAAATCCTAAAGGGGCCTTGAGGGGAGGGCAGGAGCGAGGCTTAGGAATCTGGGCTCTCTCAGGGATAAATGGGTAGGGTTGGGGGCCTAGTGATGACAGATATCACAATTCTAAACAGCAAGCTCCTCACAAATGGGGGTTATCATTGTTACTGCTGGAGCAGGTCGGAGGGTATCTGTATGCCAGAGGCAGTCACAGTGGTGGGCGGGCTCAGTTGAGAAATCTGGGCTGTCAGGTGAGGTGCAGATGGAGGCCAAGTCGTGGGATGGCACAAGGACCTCTGGGTCTTTTAGAGGTTTCCAAGGACTCCTGGAGCCAGAAAGGTGTGGGGAGAGGAGGGAGCAGTGGGATCCCAAGATGTCAAGGCTAAGATTGGTCCCCACAGGGCTCAGAGGGTGGGTGGACCCCATACTGCCCCACCCCGAAGGGGATGGCGTGGAGGCTTTGGGTCTCCACAGGGGTCAGGGACTGAGGACAGGTTCTGTGGGGGCAGGAGGGGCCAAGCAGGTGCTCTGCAGCCCCTGAGCCTGGCCCTGGGCTCGCCAGCAGAAGCAGGACCGGATTGAGGGCTTGAAGCGGCACATCGAGAAGCACCGCTACCACGTGCGCATGCTAGAGACCATCCTGCGCATGCTGGACAATGACTCCATCCTCGTTGA
TGGATAGCACTGTTTGCCAGATGTTCCCTTCTTTGTGGGTGAGGACTCTTTTGGTGTGACTTCCCTCTGTATTGAGGCTCTTGTTCCTCAGTATGGGGCTGTTTCTGTCTTTACAGTAAGTGACTACTCCAGGGTTCCCTGCCCTGCACACGTAGAGTGGGAGCGGCCCGTGGATCCCAGGGAACTGTGCTTTTCATTGTAGGCCCCCTCCCTGGAGGGGAAGAGGGCAATCTCCGCTGGTATCTCAGAAGTCTTCTTCTGAGGCATAAGCCTCTCTTCCCAGGGCTCCCCTGGTCTCGCTGTCAGGCCCTAAGGTATGTCTTCCCTTGGACTAAAGCTCCTTGGAACTCCCTTTTGACCTCAGTCTTCTCTGGGTTCCAGGTAACTTCCTTTAAAATAAAGACGCTCCTCTCTTGAAGTTTTGGGTTCCTGCCCTGATGGTCTATGTCTCCCTGACTCTAAATTACCAATCCACTTGCTATGGGATTCCTCCGTGAGTGCAGATCGGCTCCCTCACAGCTGCGGTACCTTTGCACCCTCTTATCTTAGTAAGATTTCTGTCTTCTCCCAGGTCTCTCTTGGGTACTGCCTTCTGCCCCCAAATCTCTAAGCCTTCTTGGTATTAGCTTCTTTGGGTTAGGAGTGTTATTTCCTTTTGGTTTAAGGATCCTGCTCTGGAATAAATGTCTTGGTGGTTTGAGTCCCTTCTACTTGGCATTCAGCCCTGTCTGCATGAGCGGGTTCAGCTCTTCACAGCTTTCGGCATCTCTGCTCGCCGTCGTTTTCCCCCACCCCCAATCTTTCTTCTCCTACCTACAGCTTACACACACACACACACACGCCCTTCTCTGTGAGCTGCCAGTTTCATTTGTCTCCTGACTTGTCTGAGGGATGACCTCTCCTAGCCACCTCTGCCCAGCCCCTCTGAGTAGGAAGTGTGATCTCCAGGGCTAATGCCTCCATCCCAGTCATCAGCTGTGTGCAGCATGACTGTCCTGCTCTGAAAAACCTTTTTGAGTGTATTCTGGGGAGAAGGTACTCCATGCTCTAGGAATTTTCCACTTCCTGAGTCAGAGGCACACAAAAAAGTATGTAACTTTTCTTGTTTCAACAAACTTATGGGGTCCCCTGTTGGCCAGACACTATGCTGGGCAGTCAAGCGAGCATCAGGAGAACTGGGGCTGGTCTCTTGTCAGATAGCAAATGCTTCTTCTCTTTACCAGTCCCACCTACCTCACTATGCTGACTAGGTCCATGTCTCTGGGTTTTTACCAGCCAGGGAATACGTGTTAATTCCTCTCCAATCTCTCCTAGCAGCGTCCGTCTCCAAGAGAGTATGAAGAGAGTGCGTCTGTAGGGCAGGGAAGATGGCGGACAAGCGCAAACTCCAAGGTACTAGACTGACTTCCTGCTGCACCTGTAGCCACATGCTCCCTCTTCTGAGGACTGCTCTTTAGATACCTGCCACCTGGGCAGGATTCTCACAGCCTTGTTCCTCCCTGGCCAGGTGAGATTGATCGCTGCCTCAAGAAGGTGTCCGAGGGCGTGGAGCAGTTTGAAGATATTTGGCAGAAGGTACAGGGGCTGAGACCCTAATAATCTGGGTCTTCAGAGAGGAGGGCACAGGAAGGCGGCTCAGGACCTCTGGGTGTTGACCAGCGGGAGGGGCTACATATGCAGATGCTGAGGACCTAAGAGAATCAGCTCTAAGATGGATTGGGGGTAGGGGTTGGGGGGGGTCCTCGAGTCCCTAGCATAAGGAAGAATCACTGGAGTGGGTACTGGGACATCCCCTCCCACACTGACTTCTCAATTCTCTCCATCCCTCAGCTCCACAATGCAGCCAACGCGAACCAGAAAGAAAAGTATGAGGCTGACCTAAAGAAGGAGATTAAGAAGCTACAAGTGAGGGGGCTGGGGGCCTGGACGCCTTTGTCCTGAGGGTAGAGGGAACTGGGAGAGTGGACTGCTGGGTCCCAGGGAGAAGGAGCTGTGGGCCCCAGTTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGTGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGGAAGGTCACCAGATTCTTGAGATCCCAAGGGGCGGAGGCAGAGCGGCCAGACCCCAGAGGTCCTCAAGAGAAGTAAGGTTTCTGCACCTAAGGGAAGTGAAGAGGCAGCGGACTCAGAGCTCAGAAAGTAGGGTCACGAGGCTCAGGTCGGAGTGTCTGCTGGCCCTTAGTCAGCTCCTTTCCCACCTTTGAGAGCCCCCCTGCCAACTGCACTCTCTACAGCAAATGGAACGGTTCAAAGTTGTGGAACGAGAGACCAAAACCAAAGCTTACAGCAAAGAGGGCCTGGGCCTGGCCCAGAAGGTAGATCCTGCCCAGAAGGAGAAGGAAGAGGTTGGCCAGTGGCTCACGGTGAGTTGGGGTAGAGAAGAGGAGGTGAACTCTGAGGATCCTGAGCCCTGGGTGTAGGCGGAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATGGGGATGGGCATGGGAATGGGCTGGCCAGCAGGAGGCCAGTCATTTATGCTCCTGGGAGTTGGGGCCTGGATTCCTCAGGCGGACAGGGCCAACAGCCGGGATTAGGGATTTGAGAGACAGGATTGGGAGGGCTTAGCAGCTGCACGCGTGGGGCAGGAAGGAGGTCAGACAGAATCTCAGGGTCCCCTGGGTGTCTGGGTAGACCGTGGGGCCTTTGTGAAGAGGAGCGACTTGGGGGAAGGTGAGTGCAGGTTGAGCTTGGGCCACAGAGTAAAAGTGAGACCTGAAGGACACCCATGGCAAGAGGCCTCCTGGCACCCAGAGGGCCCTGGTCCTAGGGAGAGCACAGTGGGTAGAGACAAGGCAGAACATGGAGAAGGCAGAGAACCAGGCCTGAAGGAAGACAGGAGTCTGGGACAAAGCTGGATGTTGGGGTCCCAGGTTCTAAAATCCGGGATTGTGGGGTATGAGTTCAAAGGGATACAAACTGTACAGACTTGCTGAAACCAGAAAGACAGGGAGGGGAGAGCCGGGTCCTCAGGGAAGCTGTGGGTGGGAGAGGGTCAGGAAGTGGAAGATGACAGGGTTGGGTGTCAGACTCTGAGGGGTTTGGGAACCAGGGGCTTTCGGGGAGATGATGGGTCCTTGAACAGAGCAGAGATTTGGAACCAAGGCTAAGATGTTAAATCCTAAAGGGGCCTTGAGGGGAGGGCAGGAGCGAGGCTTAGGAATCTGGGCTCTCTCAGGGATAAATGGGTAGGGTTGGGGGCCTAGTGATGACAGATATCACAATTCTAAACAGCAAGCTCCTCACAAATGGGGGTTATCATTGTTACTGCTGGAGCAGGTCGGAGGGTATCTGTATGCCAGAGGCAGTCACAGTGGTGGGCGGGCTCAGTTGAGAAATCTGGGCTGTCAGGTGAGGTGCAGATGGAGGCCAAGTCGTGGGATGGCACAAGGACCTCTGGGTCTTTTAGAGGTTTCCAAGGACTCCTGGAGCCAGAAAGGTGTGGGGAGAGGAGGGAGCAGTGGGATCCCAAGATGTCAAGGCTAAGATTGGTCCCCACAGGGCTCAGAGGGTGGGTGGACCCCATACTGCCCCACCCCGAAGGGGATGGCGTGGAGGCTTTGGGTCTCCACAGGGGTCAGGGACTGAGGACAGGTTCTGTGGGGGCAGGAGGGGCCAAGCAGGTGCTCTGCAGCCCCTGAGCCTGGCCCTGGGCTCGCCAGCAGAAGCAGGACCGGATTGAGGGCTTGAAGCGGCACATCGAGAAGCACCGCTACCACGTGCGCATGCTAGAGACCATCCTGCGCATGCTGGACAATGACTCCATCCTCGTTGA
Task1_train_27524
A variant was discovered on Chromosome 19, affecting MBOAT7 (membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Intellectual disability, autosomal recessive 57
ATGCAGCTCAGCCAGGCCCCCTCCCGACGCCTGCTAGTGTCCCAGCCCCGGATGCTAAGGAAGGGATCCTGGCCAGGCAATGGCCCTCTGGCTGTCAGACTTGCTAGGGCAGCAAGGGAGGGTGGCCCAGAGGGTGCCTGTAGGGTAGGAAGGTGGGTGGGCTGGGTGGTACAGTCCACTGACAATGGGGTTCTTCTTCTTTTGGTACCTAATGGGGCCCGCCACAGCCATGAAAAGCCTTGAAGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAAGCTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCCTTCTAAATTGTCGGACACTGCAGTTGCCAGGGAAGTTGTGGTTATCATCCCTAATAACAAGGTGCTTCACGGTTGCTAGGGAGATGTTCCAGGCGCCAGTGGGGTCCCCATGATCTTTGTTGCTAAGGAAAAGGCATTCCTTAGCAACAATGCCTAGGATGTTTAGAAAGGCTTTTAGGAAGGGGCTTTTTTCCTGGTCGCAGTGATTATTGGAGAAGTGTCACCTCTAGCAATACAGTGGCTCCCTCATCACTCATGTCGACAGCCCCAGCAGTGGGAAACACTGGCCCATATGAAGCCTTGGTGGCCTCTGATGACAGGAGGGGAGCCATCCTTTAGGAGTGAGGACCGAGCAGATTTAGAAAAACCTTCAATTCCTGCTTGGCTTTACTAGGGGGACATCCTCTCTCTAGCAGCTGGAGGTCAGGGCACGGTTATTAGGGCAGTGGTAACAAATTCCCGTGGGGGTGTCACTACCCCCACAACAGAATGGCAGTTTGTGACGACTAGGGGACAACCCTAGCAGGGAGTAGTAGTTCATCATTTACATCAACAGGCTGTTCCCCCAGCCGCAGTCCAAGCCCCTGGGGGAAGGCTGACTGCAGCTGTCAGGAACACAAGGGCAGTCTACTCCTGGTTGCCGGGGGTGCCATCTCCCTAGCAACACGGGGGCAATACTTCCTCAGCCACAAGAGAGTCCACAGCTATGGCCGTGCGACTTGCCTAGCAATGCAGGTGCCGGGGGGTGGAGCCTCTCTGGCAACAAGGGTCAACCCATAGTTTCCAGGGGGAGGTTTGGCTTCCTTAGCAACAGTGTAACTGTAGTTGGTAGGAATGGCGTGCCCTCTGCTGGGGAACAGCACTGGTCAGGGATTGGAAATTGCTATTTCCTTGCAGAGGGCTGCTGAGGGCTGCTATGTGAGGACATCCCACGGGGTGGAGCAGTGCTAGCTCCTAGCAACAAAGGGGCAGTGCAGGGAGTGCCGTATCTGCAGCAACAGAGCAAAACTTCTGGTAAAAAGGAGGTGAGCTACTGTTGCTAGGGATCCTGCTTCCCTAGCAAATAGTGGCGTTCTGTTGCTAGGGAACCGTTTCCCTAGCAACAGAGGGTGACCCACCACTAGCAAAGGATGGCATCCCCAGCAAGCAGGAACAATCTGGTTCTGGGGGGTGACACTTCTGTGGCAACAGAGGGGTGGCACAGGGTTGCTAAGTTACCACCTTTTCCTAGCGACAGGGGGCAGTTCACCACACTGCGGGGTGACAAGCGCTAGCAACAAGGGGCATCTGTCAGTACCAGGGATCTTTTCCCTACCGACAGGGGCTGGCAGGCCATGGTTGCCGAGGGGGCGACACTCTGCTCAAAAAGGTGGTGGCCCTGGCCCCTTGCTCCCCGCTCTCCTCCCGGCTAGGGGCAGAGCCAGCCCTTGGAGGTGGGGGCTGCTGGGTCTTGGGAAGCCTCCCTCGCGCCGCCTGACCTGCTGGGGGGTGGGCATTGGAGGGTGGGGCCGCCTCCGGCCCGGGCTTTGGCGGCCACGGGGTAGGCCCCAAAGCCGGCGGCAATGCAGCCGCACTCGGCGGCAATCCAGGCCACGTAGAAGCGCATGCGGAAGGCGAAGAAGACGGGGATCATGTAGAAGAGGCGGGCGGGCAGCGGGCGGGCGTAGAAGGCGTCCTCGCGCACGGCCTCCAGCGGGAAGAGGTGAGAGGAGAGCAGGAACAGCAGGCCGAAGAGCGGGGCCGGCCAGGCGCGGCGCAGCAGGGGCCGCAGGCTGGGCACTGCCCCGGGGAAGGGCTGCTCCAGCCAGTCCAGGTAGGTGCGGTAGCGGAAGAACGGGCCTGTGGGGCGGGGAGGGAGGGCCGCGGTCAGACAGGCAGGTGGGCAGAGCTCAAGTCTGCAGGAGGAGGACAGGGAGCTTGGAAGGAAGGTGGGAAGAGGGAGTGAGAGGGGCAGAGACTGGGCGCCGGGGAGACCCCAAGGGTAGGGACTGAGACCCTGAGAGATGGGGATAAGGAACGAGAGACAGGGGGGACAAGAAACTCAGAGAGACAGAGACAGTAACAGAAAAACAGACAGAGGGGCCGGTGCGGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCTAGCTGGGAGGACTGCTTGAGCCCAACAGTTGGACAGCAGCCTGGGCAAAACGGCAAGACCCCATCACTACAAAAAATAAAAATCAGCCAGGTGTGGAGGGCACCTGAATTCCCAGCTACTGGGGAGGCTGAGGCGGGAGGATCGTTTGAGCCCAGGCTGCAGTGAGCAGTGACTGAGCTACTGCATTCCAGCCAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGTGAAGAAGGGAAGAAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGAAGGGAAAAGGGAAGGACGGAGGGAAGGAGGAAGGAAAGAAACTAGGAGATAGCTGTGGCACTTTAGCTACAATATGATGGTGGTCTGGCCTAGGGAGGAAGCAGTGTGATTCACAGAAGGGACCGGGGTTAAAATTTTTATATGTTCACAAAGGCCGTATGTTTAGGTCAATGTAGCATGGGAAGATAAAAGGAAAAAAAAAACAAATTAAAATAAATAAATAAGACCACATGTTGTATGATTCCATTTGTAAGCGCAATGTCCAGAACAGGCAAATCTTTACAGATAGAAAGTCAATTACTGGTTACCAGGGATGGATGGAGGTTTGTGGGATGATGGACATGGGGTTTCTTTGCAGGGTATGAAACTGTTCTGAATATAACTACACAGTGGTCATGTCTGCACAACTCGGTGAATATACTAAAAATCAGGGAGTTGTATGTTTTGTGTTTTGTTTTTTTTCAGGAAATTAAAGAAGCCAAGAGTTGTATGTTTTAAGTGGATGAGTATGTGAATTAGAGTTCCCTAAAGCTGTTATTGGAAAAAAAACCTTTGATGAGGTAAACATTAATGAAAAATATTTTCTTTTTAAAATTTCACATATATATACACATACACACATACATATATATACACACATGCACACACACATACATATGTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCGTCTCGTGGGTTCAAGCGATTCTCCAGTTTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTAATTTTATATTTATTTATTTTTTAAAAATAAAGGTTTAAAATAAAGGGACGGGATCTTGCTATGTT
ATGCAGCTCAGCCAGGCCCCCTCCCGACGCCTGCTAGTGTCCCAGCCCCGGATGCTAAGGAAGGGATCCTGGCCAGGCAATGGCCCTCTGGCTGTCAGACTTGCTAGGGCAGCAAGGGAGGGTGGCCCAGAGGGTGCCTGTAGGGTAGGAAGGTGGGTGGGCTGGGTGGTACAGTCCACTGACAATGGGGTTCTTCTTCTTTTGGTACCTAATGGGGCCCGCCACAGCCATGAAAAGCCTTGAAGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAAGCTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCCTTCTAAATTGTCGGACACTGCAGTTGCCAGGGAAGTTGTGGTTATCATCCCTAATAACAAGGTGCTTCACGGTTGCTAGGGAGATGTTCCAGGCGCCAGTGGGGTCCCCATGATCTTTGTTGCTAAGGAAAAGGCATTCCTTAGCAACAATGCCTAGGATGTTTAGAAAGGCTTTTAGGAAGGGGCTTTTTTCCTGGTCGCAGTGATTATTGGAGAAGTGTCACCTCTAGCAATACAGTGGCTCCCTCATCACTCATGTCGACAGCCCCAGCAGTGGGAAACACTGGCCCATATGAAGCCTTGGTGGCCTCTGATGACAGGAGGGGAGCCATCCTTTAGGAGTGAGGACCGAGCAGATTTAGAAAAACCTTCAATTCCTGCTTGGCTTTACTAGGGGGACATCCTCTCTCTAGCAGCTGGAGGTCAGGGCACGGTTATTAGGGCAGTGGTAACAAATTCCCGTGGGGGTGTCACTACCCCCACAACAGAATGGCAGTTTGTGACGACTAGGGGACAACCCTAGCAGGGAGTAGTAGTTCATCATTTACATCAACAGGCTGTTCCCCCAGCCGCAGTCCAAGCCCCTGGGGGAAGGCTGACTGCAGCTGTCAGGAACACAAGGGCAGTCTACTCCTGGTTGCCGGGGGTGCCATCTCCCTAGCAACACGGGGGCAATACTTCCTCAGCCACAAGAGAGTCCACAGCTATGGCCGTGCGACTTGCCTAGCAATGCAGGTGCCGGGGGGTGGAGCCTCTCTGGCAACAAGGGTCAACCCATAGTTTCCAGGGGGAGGTTTGGCTTCCTTAGCAACAGTGTAACTGTAGTTGGTAGGAATGGCGTGCCCTCTGCTGGGGAACAGCACTGGTCAGGGATTGGAAATTGCTATTTCCTTGCAGAGGGCTGCTGAGGGCTGCTATGTGAGGACATCCCACGGGGTGGAGCAGTGCTAGCTCCTAGCAACAAAGGGGCAGTGCAGGGAGTGCCGTATCTGCAGCAACAGAGCAAAACTTCTGGTAAAAAGGAGGTGAGCTACTGTTGCTAGGGATCCTGCTTCCCTAGCAAATAGTGGCGTTCTGTTGCTAGGGAACCGTTTCCCTAGCAACAGAGGGTGACCCACCACTAGCAAAGGATGGCATCCCCAGCAAGCAGGAACAATCTGGTTCTGGGGGGTGACACTTCTGTGGCAACAGAGGGGTGGCACAGGGTTGCTAAGTTACCACCTTTTCCTAGCGACAGGGGGCAGTTCACCACACTGCGGGGTGACAAGCGCTAGCAACAAGGGGCATCTGTCAGTACCAGGGATCTTTTCCCTACCGACAGGGGCTGGCAGGCCATGGTTGCCGAGGGGGCGACACTCTGCTCAAAAAGGTGGTGGCCCTGGCCCCTTGCTCCCCGCTCTCCTCCCGGCTAGGGGCAGAGCCAGCCCTTGGAGGTGGGGGCTGCTGGGTCTTGGGAAGCCTCCCTCGCGCCGCCTGACCTGCTGGGGGGTGGGCATTGGAGGGTGGGGCCGCCTCCGGCCCGGGCTTTGGCGGCCACGGGGTAGGCCCCAAAGCCGGCGGCAATGCAGCCGCACTCGGCGGCAATCCAGGCCACGTAGAAGCGCATGCGGAAGGCGAAGAAGACGGGGATCATGTAGAAGAGGCGGGCGGGCAGCGGGCGGGCGTAGAAGGCGTCCTCGCGCACGGCCTCCAGCGGGAAGAGGTGAGAGGAGAGCAGGAACAGCAGGCGGAAGAGCGGGGCCGGCCAGGCGCGGCGCAGCAGGGGCCGCAGGCTGGGCACTGCCCCGGGGAAGGGCTGCTCCAGCCAGTCCAGGTAGGTGCGGTAGCGGAAGAACGGGCCTGTGGGGCGGGGAGGGAGGGCCGCGGTCAGACAGGCAGGTGGGCAGAGCTCAAGTCTGCAGGAGGAGGACAGGGAGCTTGGAAGGAAGGTGGGAAGAGGGAGTGAGAGGGGCAGAGACTGGGCGCCGGGGAGACCCCAAGGGTAGGGACTGAGACCCTGAGAGATGGGGATAAGGAACGAGAGACAGGGGGGACAAGAAACTCAGAGAGACAGAGACAGTAACAGAAAAACAGACAGAGGGGCCGGTGCGGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCTAGCTGGGAGGACTGCTTGAGCCCAACAGTTGGACAGCAGCCTGGGCAAAACGGCAAGACCCCATCACTACAAAAAATAAAAATCAGCCAGGTGTGGAGGGCACCTGAATTCCCAGCTACTGGGGAGGCTGAGGCGGGAGGATCGTTTGAGCCCAGGCTGCAGTGAGCAGTGACTGAGCTACTGCATTCCAGCCAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGTGAAGAAGGGAAGAAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGAAGGGAAAAGGGAAGGACGGAGGGAAGGAGGAAGGAAAGAAACTAGGAGATAGCTGTGGCACTTTAGCTACAATATGATGGTGGTCTGGCCTAGGGAGGAAGCAGTGTGATTCACAGAAGGGACCGGGGTTAAAATTTTTATATGTTCACAAAGGCCGTATGTTTAGGTCAATGTAGCATGGGAAGATAAAAGGAAAAAAAAAACAAATTAAAATAAATAAATAAGACCACATGTTGTATGATTCCATTTGTAAGCGCAATGTCCAGAACAGGCAAATCTTTACAGATAGAAAGTCAATTACTGGTTACCAGGGATGGATGGAGGTTTGTGGGATGATGGACATGGGGTTTCTTTGCAGGGTATGAAACTGTTCTGAATATAACTACACAGTGGTCATGTCTGCACAACTCGGTGAATATACTAAAAATCAGGGAGTTGTATGTTTTGTGTTTTGTTTTTTTTCAGGAAATTAAAGAAGCCAAGAGTTGTATGTTTTAAGTGGATGAGTATGTGAATTAGAGTTCCCTAAAGCTGTTATTGGAAAAAAAACCTTTGATGAGGTAAACATTAATGAAAAATATTTTCTTTTTAAAATTTCACATATATATACACATACACACATACATATATATACACACATGCACACACACATACATATGTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCGTCTCGTGGGTTCAAGCGATTCTCCAGTTTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTAATTTTATATTTATTTATTTTTTAAAAATAAAGGTTTAAAATAAAGGGACGGGATCTTGCTATGTT
Task1_train_27525
A variant on Chromosome 19 in gene TSEN34 (tRNA splicing endonuclease subunit 34) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Pontocerebellar hypoplasia type 2C
CCACGGTCAGGGCCCCGGGCGGGCAGGGAAGAAGCCCCGGAGCAGAAGCCGAGAGCGCGAGTCGGCAACGGGATTCGAGTCCAGGTCCACACTGGGATCCGAGCTCCGAGTACGTGAAGGGGCGGGCCTTCGGGCTCGGAACAAGGAGGAGCCAAAAGCTTTGGACCCGAAGGGGAACAGACGGGCTCTGGAAAGGAGGCGGGGTCTGGAGCTCGGCGTGAGGAATGAGGCGGGGTCTCCCTTCGGGTTCCTTCGGGCACAATCGGGAGCTTGAGTTCTCCGGAAGCGGGGCCACAAACTTCGGCTCACTTCGGCAATAGTCGAGAACGGAGAGCTGAGGCCACTGTGGGCGGAGCCACATGTTTCGGCTTTCTTCGGAGGTAGTCGAGTCCTTAGGGTCACTGTTCCGATGTGGGCGGGGCCACAGACTCGGCCGGATGTGGGTGGGGCCACAAGCTTCGGTTTACTTCGTAGATAGTTGGGTACAAGTGACGCTAGGATGATAGGCGGAGTCAACAGGTTCGCCAGACACCCATGAGTATTTACAAGGGGGCGGGGCGAAAGCGACTTGCCCTCAAAGGGGCGGAACCCCGAGGGCCGGCGTGCGCCTACGGGACCGGGCCAGGATGACGATCCTCAAGTTCCCAAGTAGAGGAGAGGAAGCGGCAGAGGGAGGTGCGCTCAGTGGGGCGGAGCCAAGGTGGCCCCCGCGGGAGGAGGGCGGGGCTTCGGTCCTGCGAGGGGCGGGACCTGACTTCCCGCGGCGCTGATGGGGCGGGATGACGAAGTTGACGAGGGTGTCGGCATGAGGGGGTGGAGCAAGGAGCGCGTGGCGCGGTGCGCAGTGGGTGGCTCCACCTCGACTGCGAATTACTGTTTATGAGGTGACTCGCTGGTTCTATCGGTGGACAGTGGGACATTCTGAAGGGAGGCAAGGAGGCGGACTGAGCGCTCCCAATTGGGGTGAGCCCGCCCGAGCGGAGAGTGGACGGCGGGTGTCCAGGGGGCGGGGCTTTCGGCTGTGGGGTTCGGTCGTAGGGCGGGAACTCCCCAACTGGGGTGCGCTGGCGCTCGGAGGGGGCGGGGCCACAGGCCGCGAGGCTGCCGGGAGCCGATGACGCCCGAACGCCGAACCTATTGCGTCCGGGAGGAGGCGGGGCTACGGATTCGGCCGAGCCGAGAACACCCGAACGTCAAATTGCTGGCGTTCGAGAAGGGGGCGGGGCTGCGGATTCGGTGGAGCCGAGGACGCCCGAACGCCGAACTTCCTGTGCTCGGGAGGGGGCAGGGTTTTGTACTGTGGGAGTCTGAGAGCGAGGAGGTCCGAAAGCCGAATCACAGTCGTTCGGAAAGAGGAGGAGCGAAGGCTCGAGCGTCCGGAAGAGGGTGTGGCCTCGGCGGTGCCTTAGCCTCCAGAGCTTCTGACCGCTGACGGGAACACCCGAAGGGGGACGCCCACTTTGCAAGAGGGTGGTGCCAAAATGGACCTTTGTAAGGGGGCGTGTCGCCGCGCTTGCGGAGGTTTGTTTTTCACGCTCCAAGGCGCAATGGTAGGTACGGCAGTGCGGGCACAGAGCGGGTGCCGACCGCAGGGTCACAAGGGTAGAGCGGGACCCTGGGGGCTTGGCGAGGGGAGAGGGTCGGGGGCTTGTCTCCGGCGTCTCGTCTCCGGCGGCCGCGAGGCCTGGTGGGATCGCCCGGGGGCGGGGCCTGGCGCTCGGGCCCAGCAGGTGGTGAACGGCGGCTGAGCGAGGCCCCGCCCCCTGAGGCCTAGGGGCGGGGCTTCGCCGAGACCCCGGAGGCTTTGGGTGCGCTGCAGCGGTCCGCGGCGCGCAGCTGTTTCGGTAACTGCTTTGCCTCCCGGCTCCCGCAGGAGGATGCTGGTGGTGGAGGTGGCGAACGGCCGCTCCCTGGTGTGGGGAGCCGAGGCGGTGCAGGCCCTCCGGGAGCGCCTGGGTGTGGGGGGCCGCACGGTAGGCGCCCTGCCCCGCGGGCCCCGCCAGAACTCGCGCCTGGGCCTCCCGCTGCTGCTGATGCCCGAAGAGGCGCGGCTCTTGGCCGAGATCGGCGCCGTGACTCTGGTCAGCGCCCCGCGTCCAGACTCTCGGCACCACAGCCTGGTAAGGGGGCGGGGCTCGAACTCGGGTTCGGTGGGAGCGGGACCTGGGAGTCAAGTTTCCTGGCTTCTGAAGGGACCATAAGCTTGGAGGTTCCAGCGAAGTGTGCTTCTCAGGCCCTGACATCCTTCAAGCGCCAGCAAGAGGAGAGCTTCCAGGAGCAGAGCGCCTTGGCAGCTGAGGCCCGGGAGACCCGTCGTCAGGAGCTCCTGGAGAAGATTACGGAGGGCCAGGCTGCTAAGAAGCAGAAACTAGAACAGGCTTCAGGGGCCAGCTCAAGCCAGGAGGCCGGCTCGAGCCAGGCTGCCAAAGAGGATGAGACCAGTGATGGCCAGGCTTCGGGAGAGCAGGAGGAAGCTGGTGAGCATGGGAGGTGGAGTCCAGGGACCACGGGAAGGAGAGGAGAGATCTTTTAGGAATTTTAGCTGGGAATCCAGTGCCTGGGTCTCCCTGAGGGTGAGAAGACTTTACCCCTTGAATTTACCAAACTCTTCTCTGTACTCCCCACCAGGCCCCTCGTCTTCCCAAGCAGGACCCTCAAATGGGGTAGCCCCCTTGCCCAGATCTGCTCTCCTTGTCCAGCTGGCCACTGCCAGGCCTCGACCGGTCAAGGCCAGGCCCCTGGACTGGCGTGTCCAGTCTAAAGACTGGCCCCACGCCGGCCGCCCTGCCCACGAGCTGCGCTACAGTATCTACAGAGACCTGTGGGAGCGAGGCTTCTTCCTCAGTGCGGCTGGCAAGTTCGGAGGTGACTTCCTGGTCTATCCTGGTGAGTATGGGTTGGGGCCTCTGGTTGCTGTGCCTTTCCATACGATCCCAATGTATTCTGCGTTTTTCTTTTTTTTTTTTTTTGTCTTAATAGAGGTGGGGTCTCTTGTTGCTTAGGCTGGTCCCTATTCCTGGGCTCAAGCAATCCTTCCACCTCGGCCCCCCAAAGTGCTGGAATTATAGGCCCAGCTGCATTTTTCTTTTTTGTCTCACTTTCTCTTAGCCTCTGAAATTCATAGACAGACAGGAAACATTTGGGAGCTCCCGAACTCATTGGGCAAGCAGTTTAACGACTTTTATTAAATGATTACTGTGATCCAGAAGATTCACTTAGAAGTAGTTAGACATCAGGCTGGGCGCAATGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGACAGGTGGATCACCTGAGGTCAGGAGTTTGATACCAGTCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACTAAAACTAACTGGGCGTGGTGGTGGGTGCCTGTATTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCATGTGAACCCAGGGGGCAGAGGTTGTAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGCCTAGAAGTGGAATAGTTGTGTCCAAGAGCATCTGTTTTAGAGTATCTATAGTGATGGCTGAAATGATCTCAGATCTCCTCCCAGTGGTCGTTCCCGTGGCGTCCAGCCGTCTGCCATTGGTCACTGCTTCAGTGCCTCTCTCCTTCCCCCAGGTGACCCCCTCCGCTTCCACGCCCATTATATCGCTCAGTGCTGGGCCCCTGAGGACACCATCCCACTCCAAGACCTGGTTGCTGCTGGGCGCCTTGGAACCAGCGTCAGAAAGACCCTGCTCCTCTGTTCTCCGCAGCCTGATGGTAAGGTGGTCTACACCTCCCTGCAATGGGCCAGCCTGCAGTGAACTCCAGAGACCTAGGGGATGTGGCTGTGTCGGCAGCAAGAGCCTTTCTGGATGTTCCCCAGCTCTTCTCTGGGAGTCTAGAACATCCTCCTACCTTTCTCCGCGGTTAGTTTTTGATTCCAGGTTTTCGAACACTACATCTTTTTTATGTTCTTCCTTGTTTCAAAGCACTTATTGGCTGTGTTTTTGTAGTTACCTATTTTCACACTGTGAGCTTCCCG
CCACGGTCAGGGCCCCGGGCGGGCAGGGAAGAAGCCCCGGAGCAGAAGCCGAGAGCGCGAGTCGGCAACGGGATTCGAGTCCAGGTCCACACTGGGATCCGAGCTCCGAGTACGTGAAGGGGCGGGCCTTCGGGCTCGGAACAAGGAGGAGCCAAAAGCTTTGGACCCGAAGGGGAACAGACGGGCTCTGGAAAGGAGGCGGGGTCTGGAGCTCGGCGTGAGGAATGAGGCGGGGTCTCCCTTCGGGTTCCTTCGGGCACAATCGGGAGCTTGAGTTCTCCGGAAGCGGGGCCACAAACTTCGGCTCACTTCGGCAATAGTCGAGAACGGAGAGCTGAGGCCACTGTGGGCGGAGCCACATGTTTCGGCTTTCTTCGGAGGTAGTCGAGTCCTTAGGGTCACTGTTCCGATGTGGGCGGGGCCACAGACTCGGCCGGATGTGGGTGGGGCCACAAGCTTCGGTTTACTTCGTAGATAGTTGGGTACAAGTGACGCTAGGATGATAGGCGGAGTCAACAGGTTCGCCAGACACCCATGAGTATTTACAAGGGGGCGGGGCGAAAGCGACTTGCCCTCAAAGGGGCGGAACCCCGAGGGCCGGCGTGCGCCTACGGGACCGGGCCAGGATGACGATCCTCAAGTTCCCAAGTAGAGGAGAGGAAGCGGCAGAGGGAGGTGCGCTCAGTGGGGCGGAGCCAAGGTGGCCCCCGCGGGAGGAGGGCGGGGCTTCGGTCCTGCGAGGGGCGGGACCTGACTTCCCGCGGCGCTGATGGGGCGGGATGACGAAGTTGACGAGGGTGTCGGCATGAGGGGGTGGAGCAAGGAGCGCGTGGCGCGGTGCGCAGTGGGTGGCTCCACCTCGACTGCGAATTACTGTTTATGAGGTGACTCGCTGGTTCTATCGGTGGACAGTGGGACATTCTGAAGGGAGGCAAGGAGGCGGACTGAGCGCTCCCAATTGGGGTGAGCCCGCCCGAGCGGAGAGTGGACGGCGGGTGTCCAGGGGGCGGGGCTTTCGGCTGTGGGGTTCGGTCGTAGGGCGGGAACTCCCCAACTGGGGTGCGCTGGCGCTCGGAGGGGGCGGGGCCACAGGCCGCGAGGCTGCCGGGAGCCGATGACGCCCGAACGCCGAACCTATTGCGTCCGGGAGGAGGCGGGGCTACGGATTCGGCCGAGCCGAGAACACCCGAACGTCAAATTGCTGGCGTTCGAGAAGGGGGCGGGGCTGCGGATTCGGTGGAGCCGAGGACGCCCGAACGCCGAACTTCCTGTGCTCGGGAGGGGGCAGGGTTTTGTACTGTGGGAGTCTGAGAGCGAGGAGGTCCGAAAGCCGAATCACAGTCGTTCGGAAAGAGGAGGAGCGAAGGCTCGAGCGTCCGGAAGAGGGTGTGGCCTCGGCGGTGCCTTAGCCTCCAGAGCTTCTGACCGCTGACGGGAACACCCGAAGGGGGACGCCCACTTTGCAAGAGGGTGGTGCCAAAATGGACCTTTGTAAGGGGGCGTGTCGCCGCGCTTGCGGAGGTTTGTTTTTCACGCTCCAAGGCGCAATGGTAGGTACGGCAGTGCGGGCACAGAGCGGGTGCCGACCGCAGGGTCACAAGGGTAGAGCGGGACCCTGGGGGCTTGGCGAGGGGAGAGGGTCGGGGGCTTGTCTCCGGCGTCTCGTCTCCGGCGGCCGCGAGGCCTGGTGGGATCGCCCGGGGGCGGGGCCTGGCGCTCGGGCCCAGCAGGTGGTGAACGGCGGCTGAGCGAGGCCCCGCCCCCTGAGGCCTAGGGGCGGGGCTTCGCCGAGACCCCGGAGGCTTTGGGTGCGCTGCAGCGGTCCGCGGCGCGCAGCTGTTTCGGTAACTGCTTTGCCTCCCGGCTCCCGCAGGAGGATGCTGGTGGTGGAGGTGGCGAACGGCCGCTCCCTGGTGTGGGGAGCCGAGGCGGTGCAGGCCCTCCGGGAGCGCCTGGGTGTGGGGGGCCGCACGGTAGGCGCCCTGCCCCGCGGGCCCCGCCAGAACTCGCGCCTGGGCCTCCCGCTGCTGCTGATGCCCGAAGAGGCGTGGCTCTTGGCCGAGATCGGCGCCGTGACTCTGGTCAGCGCCCCGCGTCCAGACTCTCGGCACCACAGCCTGGTAAGGGGGCGGGGCTCGAACTCGGGTTCGGTGGGAGCGGGACCTGGGAGTCAAGTTTCCTGGCTTCTGAAGGGACCATAAGCTTGGAGGTTCCAGCGAAGTGTGCTTCTCAGGCCCTGACATCCTTCAAGCGCCAGCAAGAGGAGAGCTTCCAGGAGCAGAGCGCCTTGGCAGCTGAGGCCCGGGAGACCCGTCGTCAGGAGCTCCTGGAGAAGATTACGGAGGGCCAGGCTGCTAAGAAGCAGAAACTAGAACAGGCTTCAGGGGCCAGCTCAAGCCAGGAGGCCGGCTCGAGCCAGGCTGCCAAAGAGGATGAGACCAGTGATGGCCAGGCTTCGGGAGAGCAGGAGGAAGCTGGTGAGCATGGGAGGTGGAGTCCAGGGACCACGGGAAGGAGAGGAGAGATCTTTTAGGAATTTTAGCTGGGAATCCAGTGCCTGGGTCTCCCTGAGGGTGAGAAGACTTTACCCCTTGAATTTACCAAACTCTTCTCTGTACTCCCCACCAGGCCCCTCGTCTTCCCAAGCAGGACCCTCAAATGGGGTAGCCCCCTTGCCCAGATCTGCTCTCCTTGTCCAGCTGGCCACTGCCAGGCCTCGACCGGTCAAGGCCAGGCCCCTGGACTGGCGTGTCCAGTCTAAAGACTGGCCCCACGCCGGCCGCCCTGCCCACGAGCTGCGCTACAGTATCTACAGAGACCTGTGGGAGCGAGGCTTCTTCCTCAGTGCGGCTGGCAAGTTCGGAGGTGACTTCCTGGTCTATCCTGGTGAGTATGGGTTGGGGCCTCTGGTTGCTGTGCCTTTCCATACGATCCCAATGTATTCTGCGTTTTTCTTTTTTTTTTTTTTTGTCTTAATAGAGGTGGGGTCTCTTGTTGCTTAGGCTGGTCCCTATTCCTGGGCTCAAGCAATCCTTCCACCTCGGCCCCCCAAAGTGCTGGAATTATAGGCCCAGCTGCATTTTTCTTTTTTGTCTCACTTTCTCTTAGCCTCTGAAATTCATAGACAGACAGGAAACATTTGGGAGCTCCCGAACTCATTGGGCAAGCAGTTTAACGACTTTTATTAAATGATTACTGTGATCCAGAAGATTCACTTAGAAGTAGTTAGACATCAGGCTGGGCGCAATGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGACAGGTGGATCACCTGAGGTCAGGAGTTTGATACCAGTCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACTAAAACTAACTGGGCGTGGTGGTGGGTGCCTGTATTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCATGTGAACCCAGGGGGCAGAGGTTGTAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGCCTAGAAGTGGAATAGTTGTGTCCAAGAGCATCTGTTTTAGAGTATCTATAGTGATGGCTGAAATGATCTCAGATCTCCTCCCAGTGGTCGTTCCCGTGGCGTCCAGCCGTCTGCCATTGGTCACTGCTTCAGTGCCTCTCTCCTTCCCCCAGGTGACCCCCTCCGCTTCCACGCCCATTATATCGCTCAGTGCTGGGCCCCTGAGGACACCATCCCACTCCAAGACCTGGTTGCTGCTGGGCGCCTTGGAACCAGCGTCAGAAAGACCCTGCTCCTCTGTTCTCCGCAGCCTGATGGTAAGGTGGTCTACACCTCCCTGCAATGGGCCAGCCTGCAGTGAACTCCAGAGACCTAGGGGATGTGGCTGTGTCGGCAGCAAGAGCCTTTCTGGATGTTCCCCAGCTCTTCTCTGGGAGTCTAGAACATCCTCCTACCTTTCTCCGCGGTTAGTTTTTGATTCCAGGTTTTCGAACACTACATCTTTTTTATGTTCTTCCTTGTTTCAAAGCACTTATTGGCTGTGTTTTTGTAGTTACCTATTTTCACACTGTGAGCTTCCCG
Task1_train_27526
This variant impacts the gene NCR1, NLRP7 (natural cytotoxicity triggering receptor 1| NLR family pyrin domain containing 7) on Chromosome 19. Is the change likely to result in a pathogenic outcome?
Pathogenic; Hydatidiform mole, recurrent, 1
CAGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGAACTCAGATGATCCGCCCACCTCTCTGCTGAGATTACAGGCAGGAGCCACCGTGCCGGGCCTGAAGCAGGTGTTTATTTCAGCAAGAGGCGCCACGTGGGTGGCGCAGTAAGTCAGGTGTTACCCTTTCTCTTCTATAGCCCCAGAACTAAACCAGAGCTGCCCATGGGAAGAGGAGACTTACGACAACATCTGCAGGAAGTGTTTTGGGCGTGTCATGGTCTTGTACAGCAACATGGCACCCTCATCCAGGAGCACATTGGCTGAGAGACGCAGGTGCTTCAGGGACTGGTTGGCTTTGAGGACATAGAAGAATTCAGCCCACTGCTCCGGGGTGGCACAGTGACCTCCCAACCTGTGAAAAGAGTGGGAAAAGTCATTCTTCTGGGAGGACAGAGTATACCCTATCAGCTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGTCTGGAATGCAAAGGCGTGATCTCACCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGGATTACAGGCATTCGCCAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCACACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTACCGAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAGATCAGCTTCTTCTGCTTCACTTCCCAAGACATTATGTCTTTGGTTTATCTCATTCTACTCATGCCTCCAACCCTGGCCTGAATTACTGGAGAGATCTAATGTTGCCTCTGCTTCTTCAAGTATCCCCATGGCCATTAGGGTAACATCCAGCCACTTCTCCAAGAGATTGTAATACAATTCTGTGCAATGTTTCACCAAAACGGCCTGTGTGGATGATTTTGCAGGGGGGAAAAAAAAATTTTTTTTTTGAGACAGGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACAGGTCACCACAACCTGTCTCCTGGGCTCAAATGATCCTCCCACCTCAGCATCCACTGTAGCTGGGACTAGAAGGGGCAAATTGATGCTTAATACTCAAAATAAAAATTTTATCCTGGCCAGGCGCAGTGGTTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAACATTTGCCAGGCGTGGTGGTGCACGCCTGTAACCCCAGCTACTCGGGAAGCTGAGGCAGAACTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACGAGATCGCGCCACTGCGCTCCAGCCTGGGTGACAAGAATAAAACTGTCTCAAAGAAAAAAAAAAAAAAAAAAGATTCTCATTGAGTGCAGAGAAGGTTGCATGCTCCTTATGAATACCTAACTCCTGATGATCTGAGATTGATGATCCATTCTCCTCAGGCTCCCAAAGTGCGAGGATCATGCACTCCATAGGATCAGGCACCAACGATTAGCTCCTGTGCCTGATCTGAGATCGAACAGTTTCATCCCAAAACTACCCCCAAACCCGTCTGTGGAAAAAACTGTCTTGTGCAAAACCGGCCCGCGGTGCAGAAAAGGCTGGGGGCCACTGCTCTCAATCCCAACAATTAGGCAAGGTGCAGTCAGGAATAGCATGTCCCTAAAGCTGGAACCCAGCACAGAATTCGGGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGTCTTCTTCCCAATGAAAGCAAGACAGAAGTCCCGGTACGCGGTGTCAGGGGTGACGTTTTTAATCCTAGGGAAAAGCAGAAGAGATTCCACTTGGAGTGATTAATACTCACATTGTGTGGAGGCATGTATAAACAAAAAGCTGTTTCACATTTAGAAATTATTAGAAGTTCTTGGCCGGGTGCAGTGGCTCGTGTCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATAACCTGAGGTCAGGAGTCTGAGACCAACCTGGGCAACATGGTGAAACTCCATCTCTACAAAAAATAAATTAGCTGGGGCCGAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGCACATGGAGGGGCATGCTTGTAGTCCCAGGTATTCGGGAGGCTGAGGTAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAATTCGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAATTACAAAAAACTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGGGCTTGCAGTGAGCCGAGATTGCTGCACTGCACTCCAGCCTGGGGAACATAGCGAGACTGTCTCAAAAAAAAAAAAAAAAGTCAAGAAGCAGAGGATCAGGAAAAACAACTAAGGGGTACTAGGCTTAATACTTGGGTGACAAAATAATCTGTACAACAAACTCCTATGACACACGGTTACCTGTGTAACTAACCTGTACTTGTACCTACTTTTTGGTTTGTTTTGGTAACAAAACAAACCAAAAAAAAGATAGCTGGGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCGAAGACCGAGGCAGGCGCATCACCTTAGGTCAGGAGTTCGAGACAAGCCTGGCCAAGATGGAGAAAATTCCACCTCTACTAAAAACACAAGATTAAGTCATTGCACTCCAGCGCCTAGGTGACAGAGTGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTCACCAAAAAAAAAAAAAAAAAAAAAGACAGCTGGAAAATCCCCAAATACATGGAGATGAAACAGCACATTTCCAAATTTAAAAAACAAAAGTACAAGAAGCTTAGTCATCGTTCAGGGTCTTCCTTGCAAGATGAGCTTCTACTTACTCCACTTTCTGCAGATGACAGGTGCTACGGGTTACGTGGTCACAAAGAATCCGCACAGAAGAGTCACTCAGGAAGCTTTGTTTCACTTCCAGAAACTTGAGGTTGCTGTTTGAGCTGAAGAGAGAGCAGAAATCTGTCCAGAGGCGAAGAGAGCGAAGATCCTGCCGAGCCCAGTTCGGAATGGTTAGGTAAGTGCACCTGCAGGAGAACACACGTTCATCTCTTAGGACTAGTACCTGCATGGTGAGATGGGCATCTGCAAACCACATTTCAATGGCAAAAACCACAATTACTTTTGCACCAACCTAAAACAGTGT
CAGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGAACTCAGATGATCCGCCCACCTCTCTGCTGAGATTACAGGCAGGAGCCACCGTGCCGGGCCTGAAGCAGGTGTTTATTTCAGCAAGAGGCGCCACGTGGGTGGCGCAGTAAGTCAGGTGTTACCCTTTCTCTTCTATAGCCCCAGAACTAAACCAGAGCTGCCCATGGGAAGAGGAGACTTACGACAACATCTGCAGGAAGTGTTTTGGGCGTGTCATGGTCTTGTACAGCAACATGGCACCCTCATCCAGGAGCACATTGGCTGAGAGACGCAGGTGCTTCAGGGACTGGTTGGCTTTGAGGACATAGAAGAATTCAGCCCACTGCTCCGGGGTGGCACAGTGACCTCCCAACCTGTGAAAAGAGTGGGAAAAGTCATTCTTCTGGGAGGACAGAGTATACCCTATCAGCTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGTCTGGAATGCAAAGGCGTGATCTCACCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGGATTACAGGCATTCGCCAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCACACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTACCGAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAGATCAGCTTCTTCTGCTTCACTTCCCAAGACATTATGTCTTTGGTTTATCTCATTCTACTCATGCCTCCAACCCTGGCCTGAATTACTGGAGAGATCTAATGTTGCCTCTGCTTCTTCAAGTATCCCCATGGCCATTAGGGTAACATCCAGCCACTTCTCCAAGAGATTGTAATACAATTCTGTGCAATGTTTCACCAAAACGGCCTGTGTGGATGATTTTGCAGGGGGGAAAAAAAAATTTTTTTTTTGAGACAGGATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACAGGTCACCACAACCTGTCTCCTGGGCTCAAATGATCCTCCCACCTCAGCATCCACTGTAGCTGGGACTAGAAGGGGCAAATTGATGCTTAATACTCAAAATAAAAATTTTATCCTGGCCAGGCGCAGTGGTTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAACATTTGCCAGGCGTGGTGGTGCACGCCTGTAACCCCAGCTACTCGGGAAGCTGAGGCAGAACTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACGAGATCGCGCCACTGCGCTCCAGCCTGGGTGACAAGAATAAAACTGTCTCAAAGAAAAAAAAAAAAAAAAAAGATTCTCATTGAGTGCAGAGAAGGTTGCATGCTCCTTATGAATACCTAACTCCTGATGATCTGAGATTGATGATCCATTCTCCTCAGGCTCCCAAAGTGCGAGGATCATGCACTCCATAGGATCAGGCACCAACGATTAGCTCCTGTGCCTGATCTGAGATCGAACAGTTTCATCCCAAAACTACCCCCAAACCCGTCTGTGGAAAAAACTGTCTTGTGCAAAACCGGCCCGCGGTGCAGAAAAGGCTGGGGGCCACTGCTCTCAATCCCAACAATTAGGCAAGGTGCAGTCAGGAATAGCATGTCCCTAAAGCTGGAACCCAGCACAGAATTCGGGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCACCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGTCTTCTTCCCAATGAAAGCAAGACAGAAGTCCCGGTACGCGGTGTCAGGGGTGACGTTTTTAATCCTAGGGAAAAGCAGAAGAGATTCCACTTGGAGTGATTAATACTCACATTGTGTGGAGGCATGTATAAACAAAAAGCTGTTTCACATTTAGAAATTATTAGAAGTTCTTGGCCGGGTGCAGTGGCTCGTGTCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATAACCTGAGGTCAGGAGTCTGAGACCAACCTGGGCAACATGGTGAAACTCCATCTCTACAAAAAATAAATTAGCTGGGGCCGAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGCACATGGAGGGGCATGCTTGTAGTCCCAGGTATTCGGGAGGCTGAGGTAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAATTCGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAATTACAAAAAACTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGGGCTTGCAGTGAGCCGAGATTGCTGCACTGCACTCCAGCCTGGGGAACATAGCGAGACTGTCTCAAAAAAAAAAAAAAAAGTCAAGAAGCAGAGGATCAGGAAAAACAACTAAGGGGTACTAGGCTTAATACTTGGGTGACAAAATAATCTGTACAACAAACTCCTATGACACACGGTTACCTGTGTAACTAACCTGTACTTGTACCTACTTTTTGGTTTGTTTTGGTAACAAAACAAACCAAAAAAAAGATAGCTGGGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCGAAGACCGAGGCAGGCGCATCACCTTAGGTCAGGAGTTCGAGACAAGCCTGGCCAAGATGGAGAAAATTCCACCTCTACTAAAAACACAAGATTAAGTCATTGCACTCCAGCGCCTAGGTGACAGAGTGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTCACCAAAAAAAAAAAAAAAAAAAAAGACAGCTGGAAAATCCCCAAATACATGGAGATGAAACAGCACATTTCCAAATTTAAAAAACAAAAGTACAAGAAGCTTAGTCATCGTTCAGGGTCTTCCTTGCAAGATGAGCTTCTACTTACTCCACTTTCTGCAGATGACAGGTGCTACGGGTTACGTGGTCACAAAGAATCCGCACAGAAGAGTCACTCAGGAAGCTTTGTTTCACTTCCAGAAACTTGAGGTTGCTGTTTGAGCTGAAGAGAGAGCAGAAATCTGTCCAGAGGCGAAGAGAGCGAAGATCCTGCCGAGCCCAGTTCGGAATGGTTAGGTAAGTGCACCTGCAGGAGAACACACGTTCATCTCTTAGGACTAGTACCTGCATGGTGAGATGGGCATCTGCAAACCACATTTCAATGGCAAAAACCACAATTACTTTTGCACCAACCTAAAACAGTGT
Task1_train_27527
This variant lies on Chromosome 19 and affects the gene NCR1, NLRP7 (natural cytotoxicity triggering receptor 1| NLR family pyrin domain containing 7). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Hydatidiform mole, recurrent, 1
GGGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGTCTTCTTCCCAATGAAAGCAAGACAGAAGTCCCGGTACGCGGTGTCAGGGGTGACGTTTTTAATCCTAGGGAAAAGCAGAAGAGATTCCACTTGGAGTGATTAATACTCACATTGTGTGGAGGCATGTATAAACAAAAAGCTGTTTCACATTTAGAAATTATTAGAAGTTCTTGGCCGGGTGCAGTGGCTCGTGTCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATAACCTGAGGTCAGGAGTCTGAGACCAACCTGGGCAACATGGTGAAACTCCATCTCTACAAAAAATAAATTAGCTGGGGCCGAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGCACATGGAGGGGCATGCTTGTAGTCCCAGGTATTCGGGAGGCTGAGGTAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAATTCGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAATTACAAAAAACTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGGGCTTGCAGTGAGCCGAGATTGCTGCACTGCACTCCAGCCTGGGGAACATAGCGAGACTGTCTCAAAAAAAAAAAAAAAAGTCAAGAAGCAGAGGATCAGGAAAAACAACTAAGGGGTACTAGGCTTAATACTTGGGTGACAAAATAATCTGTACAACAAACTCCTATGACACACGGTTACCTGTGTAACTAACCTGTACTTGTACCTACTTTTTGGTTTGTTTTGGTAACAAAACAAACCAAAAAAAAGATAGCTGGGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCGAAGACCGAGGCAGGCGCATCACCTTAGGTCAGGAGTTCGAGACAAGCCTGGCCAAGATGGAGAAAATTCCACCTCTACTAAAAACACAAGATTAAGTCATTGCACTCCAGCGCCTAGGTGACAGAGTGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTCACCAAAAAAAAAAAAAAAAAAAAAGACAGCTGGAAAATCCCCAAATACATGGAGATGAAACAGCACATTTCCAAATTTAAAAAACAAAAGTACAAGAAGCTTAGTCATCGTTCAGGGTCTTCCTTGCAAGATGAGCTTCTACTTACTCCACTTTCTGCAGATGACAGGTGCTACGGGTTACGTGGTCACAAAGAATCCGCACAGAAGAGTCACTCAGGAAGCTTTGTTTCACTTCCAGAAACTTGAGGTTGCTGTTTGAGCTGAAGAGAGAGCAGAAATCTGTCCAGAGGCGAAGAGAGCGAAGATCCTGCCGAGCCCAGTTCGGAATGGTTAGGTAAGTGCACCTGCAGGAGAACACACGTTCATCTCTTAGGACTAGTACCTGCATGGTGAGATGGGCATCTGCAAACCACATTTCAATGGCAAAAACCACAATTACTTTTGCACCAACCTAAAACAGTGTCTATAGTAAACAATATTGCATCACATGCTTTGCTACCAGTATAGATCTTAAGTTTTACAAAAAAAATAAAATAATAGATAAGGCTGAGTGAGGTGGCTCATGCCTGTAATCCCAACACTTTGCTAGGCCAAAGTGGGAAGATCACTTGAGCCCAGGAGTTTAAGACCAACTTGGGCTAGAAACTGAGACCCCCATCTCTACAAAAAAATAAAATAATTAACCGGGCAAGGTGGTGCACGCCCATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAATAAAAAGCCCCAATTCCTAATTGCCAAGTCGTGTCTCCACGTTGAACATGAAGCTGGAAAGAAGTCCAGCCAGAGGGAAATTCTGACAGTAAGCGACAGGGCAAAGGAGACGCTGGCCTCTTCCTAGTGGAGCGTGGGATGGGAAAACAGTTCTTACCTTTCAAATTCAATGTCCAGTTCAAAATCCATGTAATTCTCCAGGAACACCCCCTTTGCTACCTGCAGTGAGAGTTTCTGCAAGTCTTGACAATGCTTCAGGCTGAAGGAACAATGCATCACTTCAGAAGTATTTGTCAGGTGAATAGAAATTTCCTTGAACGGGGCCACCACCACCTTCGCCAGCTCCTCCTCCTGAGACTCATACAGGCAGCCCAAGACCTCCTTCAGGTCGGTCACGGATAAGGGCTTATTTGCATGAAGATGTGCTTTGCATTGCAGCAATTCCTGTTTGATGTCCGGTGACATCCGGCAGCCAAAAGTGGCCTCCAACTCCTTGGCTCTCTTCTCGTTAGCGAGGCCGAATAAGAAGTGTCCTACTTGAATCAGGTCGGGGTTCTTGAGTCTTTCTTCTCCGGAAAGCAGCTTCTGTACGTCCCCGATGTCCCAGGCGTGGCCGTCCCTGTCCTCCCCCTCCTCCTTCTCCAGGGCGTAGAACAGGGCAGTGAGAAACTGCTGGAAGCTGAGGTGGATGAAGGAGTAGCAGCCTTTGGAGACTCTGTCCTGGCGGAGGATGTCTCCGTCCAGGAACAGACGGAGGTCGGACTCCTGCACCCCGAGCCTTTCCAGGTCCTCTCGGTGGAACACGGACATCTGCGCCCACAGGCCCTGCGCGGCCAGGAGGCTCAGCGTCCGCAGCGCGCCCCGCAGCTGTGCGCCCTGCGGGAACCGGCTGCAGAGGAAACGCAGGAACAGCCCCGTGCGGGTGAGGCAGGTGGGGACCGGGTCCTCCCCCTTCTCCATCTGCAGCTTCAGAGTCGTGCACACAATCCAGCACACCGCGGGGGCCGAGCCCAGCTGGAACAGGGCCGCGTTGCTCCTCATTAGCTCAAAGGCACGCATGGCTTGGTCCTCGTCTCCAAAGTGTCTCAGGAAATAGGCCCTCCTGTCCTCCTCCAGGAAGCCCTCCACCCTTACGTAGATCGGCTGCTGCGCCAGGAGCTGGAGGTCCCTCAGTGCCCTGGGCCGCGTGGTGACCAGCAAGGCTGCCCTGGGTAACATCTTCCTCTTCAGCAAACTCCCCAGGAGGACGGGCACCGGCTTCTTCTTCTCCCAGTCCCCGCAGATGTCCTGGATCAGCGCCCCAGGTGGGACTTTCAGCTCATCAAGGCCATCGACCACGAACAGGATTCTCTGTGCTTGGGCTAGGATGCTTGGAATGTCATCCTGCAATTCAGGCCAGTCTTTGGAGATCA
GGGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGTCTTCTTCCCAATGAAAGCAAGACAGAAGTCCCGGTACGCGGTGTCAGGGGTGACGTTTTTAATCCTAGGGAAAAGCAGAAGAGATTCCACTTGGAGTGATTAATACTCACATTGTGTGGAGGCATGTATAAACAAAAAGCTGTTTCACATTTAGAAATTATTAGAAGTTCTTGGCCGGGTGCAGTGGCTCGTGTCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATAACCTGAGGTCAGGAGTCTGAGACCAACCTGGGCAACATGGTGAAACTCCATCTCTACAAAAAATAAATTAGCTGGGGCCGAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGCACATGGAGGGGCATGCTTGTAGTCCCAGGTATTCGGGAGGCTGAGGTAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAATTCGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAATTACAAAAAACTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGGGCTTGCAGTGAGCCGAGATTGCTGCACTGCACTCCAGCCTGGGGAACATAGCGAGACTGTCTCAAAAAAAAAAAAAAAAGTCAAGAAGCAGAGGATCAGGAAAAACAACTAAGGGGTACTAGGCTTAATACTTGGGTGACAAAATAATCTGTACAACAAACTCCTATGACACACGGTTACCTGTGTAACTAACCTGTACTTGTACCTACTTTTTGGTTTGTTTTGGTAACAAAACAAACCAAAAAAAAGATAGCTGGGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCGAAGACCGAGGCAGGCGCATCACCTTAGGTCAGGAGTTCGAGACAAGCCTGGCCAAGATGGAGAAAATTCCACCTCTACTAAAAACACAAGATTAAGTCATTGCACTCCAGCGCCTAGGTGACAGAGTGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTCACCAAAAAAAAAAAAAAAAAAAAAGACAGCTGGAAAATCCCCAAATACATGGAGATGAAACAGCACATTTCCAAATTTAAAAAACAAAAGTACAAGAAGCTTAGTCATCGTTCAGGGTCTTCCTTGCAAGATGAGCTTCTACTTACTCCACTTTCTGCAGATGACAGGTGCTACGGGTTACGTGGTCACAAAGAATCGGCACAGAAGAGTCACTCAGGAAGCTTTGTTTCACTTCCAGAAACTTGAGGTTGCTGTTTGAGCTGAAGAGAGAGCAGAAATCTGTCCAGAGGCGAAGAGAGCGAAGATCCTGCCGAGCCCAGTTCGGAATGGTTAGGTAAGTGCACCTGCAGGAGAACACACGTTCATCTCTTAGGACTAGTACCTGCATGGTGAGATGGGCATCTGCAAACCACATTTCAATGGCAAAAACCACAATTACTTTTGCACCAACCTAAAACAGTGTCTATAGTAAACAATATTGCATCACATGCTTTGCTACCAGTATAGATCTTAAGTTTTACAAAAAAAATAAAATAATAGATAAGGCTGAGTGAGGTGGCTCATGCCTGTAATCCCAACACTTTGCTAGGCCAAAGTGGGAAGATCACTTGAGCCCAGGAGTTTAAGACCAACTTGGGCTAGAAACTGAGACCCCCATCTCTACAAAAAAATAAAATAATTAACCGGGCAAGGTGGTGCACGCCCATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAATAAAAAGCCCCAATTCCTAATTGCCAAGTCGTGTCTCCACGTTGAACATGAAGCTGGAAAGAAGTCCAGCCAGAGGGAAATTCTGACAGTAAGCGACAGGGCAAAGGAGACGCTGGCCTCTTCCTAGTGGAGCGTGGGATGGGAAAACAGTTCTTACCTTTCAAATTCAATGTCCAGTTCAAAATCCATGTAATTCTCCAGGAACACCCCCTTTGCTACCTGCAGTGAGAGTTTCTGCAAGTCTTGACAATGCTTCAGGCTGAAGGAACAATGCATCACTTCAGAAGTATTTGTCAGGTGAATAGAAATTTCCTTGAACGGGGCCACCACCACCTTCGCCAGCTCCTCCTCCTGAGACTCATACAGGCAGCCCAAGACCTCCTTCAGGTCGGTCACGGATAAGGGCTTATTTGCATGAAGATGTGCTTTGCATTGCAGCAATTCCTGTTTGATGTCCGGTGACATCCGGCAGCCAAAAGTGGCCTCCAACTCCTTGGCTCTCTTCTCGTTAGCGAGGCCGAATAAGAAGTGTCCTACTTGAATCAGGTCGGGGTTCTTGAGTCTTTCTTCTCCGGAAAGCAGCTTCTGTACGTCCCCGATGTCCCAGGCGTGGCCGTCCCTGTCCTCCCCCTCCTCCTTCTCCAGGGCGTAGAACAGGGCAGTGAGAAACTGCTGGAAGCTGAGGTGGATGAAGGAGTAGCAGCCTTTGGAGACTCTGTCCTGGCGGAGGATGTCTCCGTCCAGGAACAGACGGAGGTCGGACTCCTGCACCCCGAGCCTTTCCAGGTCCTCTCGGTGGAACACGGACATCTGCGCCCACAGGCCCTGCGCGGCCAGGAGGCTCAGCGTCCGCAGCGCGCCCCGCAGCTGTGCGCCCTGCGGGAACCGGCTGCAGAGGAAACGCAGGAACAGCCCCGTGCGGGTGAGGCAGGTGGGGACCGGGTCCTCCCCCTTCTCCATCTGCAGCTTCAGAGTCGTGCACACAATCCAGCACACCGCGGGGGCCGAGCCCAGCTGGAACAGGGCCGCGTTGCTCCTCATTAGCTCAAAGGCACGCATGGCTTGGTCCTCGTCTCCAAAGTGTCTCAGGAAATAGGCCCTCCTGTCCTCCTCCAGGAAGCCCTCCACCCTTACGTAGATCGGCTGCTGCGCCAGGAGCTGGAGGTCCCTCAGTGCCCTGGGCCGCGTGGTGACCAGCAAGGCTGCCCTGGGTAACATCTTCCTCTTCAGCAAACTCCCCAGGAGGACGGGCACCGGCTTCTTCTTCTCCCAGTCCCCGCAGATGTCCTGGATCAGCGCCCCAGGTGGGACTTTCAGCTCATCAAGGCCATCGACCACGAACAGGATTCTCTGTGCTTGGGCTAGGATGCTTGGAATGTCATCCTGCAATTCAGGCCAGTCTTTGGAGATCA
Task1_train_27528
A variant was discovered on Chromosome 19, affecting NCR1, NLRP7 (natural cytotoxicity triggering receptor 1| NLR family pyrin domain containing 7). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Hydatidiform mole, recurrent, 1
GGGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGTCTTCTTCCCAATGAAAGCAAGACAGAAGTCCCGGTACGCGGTGTCAGGGGTGACGTTTTTAATCCTAGGGAAAAGCAGAAGAGATTCCACTTGGAGTGATTAATACTCACATTGTGTGGAGGCATGTATAAACAAAAAGCTGTTTCACATTTAGAAATTATTAGAAGTTCTTGGCCGGGTGCAGTGGCTCGTGTCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATAACCTGAGGTCAGGAGTCTGAGACCAACCTGGGCAACATGGTGAAACTCCATCTCTACAAAAAATAAATTAGCTGGGGCCGAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGCACATGGAGGGGCATGCTTGTAGTCCCAGGTATTCGGGAGGCTGAGGTAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAATTCGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAATTACAAAAAACTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGGGCTTGCAGTGAGCCGAGATTGCTGCACTGCACTCCAGCCTGGGGAACATAGCGAGACTGTCTCAAAAAAAAAAAAAAAAGTCAAGAAGCAGAGGATCAGGAAAAACAACTAAGGGGTACTAGGCTTAATACTTGGGTGACAAAATAATCTGTACAACAAACTCCTATGACACACGGTTACCTGTGTAACTAACCTGTACTTGTACCTACTTTTTGGTTTGTTTTGGTAACAAAACAAACCAAAAAAAAGATAGCTGGGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCGAAGACCGAGGCAGGCGCATCACCTTAGGTCAGGAGTTCGAGACAAGCCTGGCCAAGATGGAGAAAATTCCACCTCTACTAAAAACACAAGATTAAGTCATTGCACTCCAGCGCCTAGGTGACAGAGTGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTCACCAAAAAAAAAAAAAAAAAAAAAGACAGCTGGAAAATCCCCAAATACATGGAGATGAAACAGCACATTTCCAAATTTAAAAAACAAAAGTACAAGAAGCTTAGTCATCGTTCAGGGTCTTCCTTGCAAGATGAGCTTCTACTTACTCCACTTTCTGCAGATGACAGGTGCTACGGGTTACGTGGTCACAAAGAATCCGCACAGAAGAGTCACTCAGGAAGCTTTGTTTCACTTCCAGAAACTTGAGGTTGCTGTTTGAGCTGAAGAGAGAGCAGAAATCTGTCCAGAGGCGAAGAGAGCGAAGATCCTGCCGAGCCCAGTTCGGAATGGTTAGGTAAGTGCACCTGCAGGAGAACACACGTTCATCTCTTAGGACTAGTACCTGCATGGTGAGATGGGCATCTGCAAACCACATTTCAATGGCAAAAACCACAATTACTTTTGCACCAACCTAAAACAGTGTCTATAGTAAACAATATTGCATCACATGCTTTGCTACCAGTATAGATCTTAAGTTTTACAAAAAAAATAAAATAATAGATAAGGCTGAGTGAGGTGGCTCATGCCTGTAATCCCAACACTTTGCTAGGCCAAAGTGGGAAGATCACTTGAGCCCAGGAGTTTAAGACCAACTTGGGCTAGAAACTGAGACCCCCATCTCTACAAAAAAATAAAATAATTAACCGGGCAAGGTGGTGCACGCCCATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAATAAAAAGCCCCAATTCCTAATTGCCAAGTCGTGTCTCCACGTTGAACATGAAGCTGGAAAGAAGTCCAGCCAGAGGGAAATTCTGACAGTAAGCGACAGGGCAAAGGAGACGCTGGCCTCTTCCTAGTGGAGCGTGGGATGGGAAAACAGTTCTTACCTTTCAAATTCAATGTCCAGTTCAAAATCCATGTAATTCTCCAGGAACACCCCCTTTGCTACCTGCAGTGAGAGTTTCTGCAAGTCTTGACAATGCTTCAGGCTGAAGGAACAATGCATCACTTCAGAAGTATTTGTCAGGTGAATAGAAATTTCCTTGAACGGGGCCACCACCACCTTCGCCAGCTCCTCCTCCTGAGACTCATACAGGCAGCCCAAGACCTCCTTCAGGTCGGTCACGGATAAGGGCTTATTTGCATGAAGATGTGCTTTGCATTGCAGCAATTCCTGTTTGATGTCCGGTGACATCCGGCAGCCAAAAGTGGCCTCCAACTCCTTGGCTCTCTTCTCGTTAGCGAGGCCGAATAAGAAGTGTCCTACTTGAATCAGGTCGGGGTTCTTGAGTCTTTCTTCTCCGGAAAGCAGCTTCTGTACGTCCCCGATGTCCCAGGCGTGGCCGTCCCTGTCCTCCCCCTCCTCCTTCTCCAGGGCGTAGAACAGGGCAGTGAGAAACTGCTGGAAGCTGAGGTGGATGAAGGAGTAGCAGCCTTTGGAGACTCTGTCCTGGCGGAGGATGTCTCCGTCCAGGAACAGACGGAGGTCGGACTCCTGCACCCCGAGCCTTTCCAGGTCCTCTCGGTGGAACACGGACATCTGCGCCCACAGGCCCTGCGCGGCCAGGAGGCTCAGCGTCCGCAGCGCGCCCCGCAGCTGTGCGCCCTGCGGGAACCGGCTGCAGAGGAAACGCAGGAACAGCCCCGTGCGGGTGAGGCAGGTGGGGACCGGGTCCTCCCCCTTCTCCATCTGCAGCTTCAGAGTCGTGCACACAATCCAGCACACCGCGGGGGCCGAGCCCAGCTGGAACAGGGCCGCGTTGCTCCTCATTAGCTCAAAGGCACGCATGGCTTGGTCCTCGTCTCCAAAGTGTCTCAGGAAATAGGCCCTCCTGTCCTCCTCCAGGAAGCCCTCCACCCTTACGTAGATCGGCTGCTGCGCCAGGAGCTGGAGGTCCCTCAGTGCCCTGGGCCGCGTGGTGACCAGCAAGGCTGCCCTGGGTAACATCTTCCTCTTCAGCAAACTCCCCAGGAGGACGGGCACCGGCTTCTTCTTCTCCCAGTCCCCGCAGATGTCCTGGATCAGCGCCCCAGGTGGGACTTTCAGCTCATCAAGGCCATCGACCACGAACAGGATTCTCTGTGCTTGGGCTAGGATGCTTGGAATGTCATCCTGCAATTCAGGCCAGTCTTTGGAGATCA
GGGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGTCTTCTTCCCAATGAAAGCAAGACAGAAGTCCCGGTACGCGGTGTCAGGGGTGACGTTTTTAATCCTAGGGAAAAGCAGAAGAGATTCCACTTGGAGTGATTAATACTCACATTGTGTGGAGGCATGTATAAACAAAAAGCTGTTTCACATTTAGAAATTATTAGAAGTTCTTGGCCGGGTGCAGTGGCTCGTGTCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATAACCTGAGGTCAGGAGTCTGAGACCAACCTGGGCAACATGGTGAAACTCCATCTCTACAAAAAATAAATTAGCTGGGGCCGAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGCACATGGAGGGGCATGCTTGTAGTCCCAGGTATTCGGGAGGCTGAGGTAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAATTCGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAATTACAAAAAACTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGGGCTTGCAGTGAGCCGAGATTGCTGCACTGCACTCCAGCCTGGGGAACATAGCGAGACTGTCTCAAAAAAAAAAAAAAAAGTCAAGAAGCAGAGGATCAGGAAAAACAACTAAGGGGTACTAGGCTTAATACTTGGGTGACAAAATAATCTGTACAACAAACTCCTATGACACACGGTTACCTGTGTAACTAACCTGTACTTGTACCTACTTTTTGGTTTGTTTTGGTAACAAAACAAACCAAAAAAAAGATAGCTGGGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCGAAGACCGAGGCAGGCGCATCACCTTAGGTCAGGAGTTCGAGACAAGCCTGGCCAAGATGGAGAAAATTCCACCTCTACTAAAAACACAAGATTAAGTCATTGCACTCCAGCGCCTAGGTGACAGAGTGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTCACCAAAAAAAAAAAAAAAAAAAAAGACAGCTGGAAAATCCCCAAATACATGGAGATGAAACAGCACATTTCCAAATTTAAAAAACAAAAGTACAAGAAGCTTAGTCATCGTTCAGGGTCTTCCTTGCAAGATGAGCTTCTACTTACTCCACTTTCTGCAGATGACAGGTGCTACGGGTTACGTGGTCACAAAGAATCTGCACAGAAGAGTCACTCAGGAAGCTTTGTTTCACTTCCAGAAACTTGAGGTTGCTGTTTGAGCTGAAGAGAGAGCAGAAATCTGTCCAGAGGCGAAGAGAGCGAAGATCCTGCCGAGCCCAGTTCGGAATGGTTAGGTAAGTGCACCTGCAGGAGAACACACGTTCATCTCTTAGGACTAGTACCTGCATGGTGAGATGGGCATCTGCAAACCACATTTCAATGGCAAAAACCACAATTACTTTTGCACCAACCTAAAACAGTGTCTATAGTAAACAATATTGCATCACATGCTTTGCTACCAGTATAGATCTTAAGTTTTACAAAAAAAATAAAATAATAGATAAGGCTGAGTGAGGTGGCTCATGCCTGTAATCCCAACACTTTGCTAGGCCAAAGTGGGAAGATCACTTGAGCCCAGGAGTTTAAGACCAACTTGGGCTAGAAACTGAGACCCCCATCTCTACAAAAAAATAAAATAATTAACCGGGCAAGGTGGTGCACGCCCATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAATAAAAAGCCCCAATTCCTAATTGCCAAGTCGTGTCTCCACGTTGAACATGAAGCTGGAAAGAAGTCCAGCCAGAGGGAAATTCTGACAGTAAGCGACAGGGCAAAGGAGACGCTGGCCTCTTCCTAGTGGAGCGTGGGATGGGAAAACAGTTCTTACCTTTCAAATTCAATGTCCAGTTCAAAATCCATGTAATTCTCCAGGAACACCCCCTTTGCTACCTGCAGTGAGAGTTTCTGCAAGTCTTGACAATGCTTCAGGCTGAAGGAACAATGCATCACTTCAGAAGTATTTGTCAGGTGAATAGAAATTTCCTTGAACGGGGCCACCACCACCTTCGCCAGCTCCTCCTCCTGAGACTCATACAGGCAGCCCAAGACCTCCTTCAGGTCGGTCACGGATAAGGGCTTATTTGCATGAAGATGTGCTTTGCATTGCAGCAATTCCTGTTTGATGTCCGGTGACATCCGGCAGCCAAAAGTGGCCTCCAACTCCTTGGCTCTCTTCTCGTTAGCGAGGCCGAATAAGAAGTGTCCTACTTGAATCAGGTCGGGGTTCTTGAGTCTTTCTTCTCCGGAAAGCAGCTTCTGTACGTCCCCGATGTCCCAGGCGTGGCCGTCCCTGTCCTCCCCCTCCTCCTTCTCCAGGGCGTAGAACAGGGCAGTGAGAAACTGCTGGAAGCTGAGGTGGATGAAGGAGTAGCAGCCTTTGGAGACTCTGTCCTGGCGGAGGATGTCTCCGTCCAGGAACAGACGGAGGTCGGACTCCTGCACCCCGAGCCTTTCCAGGTCCTCTCGGTGGAACACGGACATCTGCGCCCACAGGCCCTGCGCGGCCAGGAGGCTCAGCGTCCGCAGCGCGCCCCGCAGCTGTGCGCCCTGCGGGAACCGGCTGCAGAGGAAACGCAGGAACAGCCCCGTGCGGGTGAGGCAGGTGGGGACCGGGTCCTCCCCCTTCTCCATCTGCAGCTTCAGAGTCGTGCACACAATCCAGCACACCGCGGGGGCCGAGCCCAGCTGGAACAGGGCCGCGTTGCTCCTCATTAGCTCAAAGGCACGCATGGCTTGGTCCTCGTCTCCAAAGTGTCTCAGGAAATAGGCCCTCCTGTCCTCCTCCAGGAAGCCCTCCACCCTTACGTAGATCGGCTGCTGCGCCAGGAGCTGGAGGTCCCTCAGTGCCCTGGGCCGCGTGGTGACCAGCAAGGCTGCCCTGGGTAACATCTTCCTCTTCAGCAAACTCCCCAGGAGGACGGGCACCGGCTTCTTCTTCTCCCAGTCCCCGCAGATGTCCTGGATCAGCGCCCCAGGTGGGACTTTCAGCTCATCAAGGCCATCGACCACGAACAGGATTCTCTGTGCTTGGGCTAGGATGCTTGGAATGTCATCCTGCAATTCAGGCCAGTCTTTGGAGATCA
Task1_train_27529
Given this variant in gene NCR1, NLRP7 (natural cytotoxicity triggering receptor 1| NLR family pyrin domain containing 7) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Hydatidiform mole, recurrent, 1
GGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGTCTTCTTCCCAATGAAAGCAAGACAGAAGTCCCGGTACGCGGTGTCAGGGGTGACGTTTTTAATCCTAGGGAAAAGCAGAAGAGATTCCACTTGGAGTGATTAATACTCACATTGTGTGGAGGCATGTATAAACAAAAAGCTGTTTCACATTTAGAAATTATTAGAAGTTCTTGGCCGGGTGCAGTGGCTCGTGTCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATAACCTGAGGTCAGGAGTCTGAGACCAACCTGGGCAACATGGTGAAACTCCATCTCTACAAAAAATAAATTAGCTGGGGCCGAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGCACATGGAGGGGCATGCTTGTAGTCCCAGGTATTCGGGAGGCTGAGGTAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAATTCGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAATTACAAAAAACTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGGGCTTGCAGTGAGCCGAGATTGCTGCACTGCACTCCAGCCTGGGGAACATAGCGAGACTGTCTCAAAAAAAAAAAAAAAAGTCAAGAAGCAGAGGATCAGGAAAAACAACTAAGGGGTACTAGGCTTAATACTTGGGTGACAAAATAATCTGTACAACAAACTCCTATGACACACGGTTACCTGTGTAACTAACCTGTACTTGTACCTACTTTTTGGTTTGTTTTGGTAACAAAACAAACCAAAAAAAAGATAGCTGGGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCGAAGACCGAGGCAGGCGCATCACCTTAGGTCAGGAGTTCGAGACAAGCCTGGCCAAGATGGAGAAAATTCCACCTCTACTAAAAACACAAGATTAAGTCATTGCACTCCAGCGCCTAGGTGACAGAGTGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTCACCAAAAAAAAAAAAAAAAAAAAAGACAGCTGGAAAATCCCCAAATACATGGAGATGAAACAGCACATTTCCAAATTTAAAAAACAAAAGTACAAGAAGCTTAGTCATCGTTCAGGGTCTTCCTTGCAAGATGAGCTTCTACTTACTCCACTTTCTGCAGATGACAGGTGCTACGGGTTACGTGGTCACAAAGAATCCGCACAGAAGAGTCACTCAGGAAGCTTTGTTTCACTTCCAGAAACTTGAGGTTGCTGTTTGAGCTGAAGAGAGAGCAGAAATCTGTCCAGAGGCGAAGAGAGCGAAGATCCTGCCGAGCCCAGTTCGGAATGGTTAGGTAAGTGCACCTGCAGGAGAACACACGTTCATCTCTTAGGACTAGTACCTGCATGGTGAGATGGGCATCTGCAAACCACATTTCAATGGCAAAAACCACAATTACTTTTGCACCAACCTAAAACAGTGTCTATAGTAAACAATATTGCATCACATGCTTTGCTACCAGTATAGATCTTAAGTTTTACAAAAAAAATAAAATAATAGATAAGGCTGAGTGAGGTGGCTCATGCCTGTAATCCCAACACTTTGCTAGGCCAAAGTGGGAAGATCACTTGAGCCCAGGAGTTTAAGACCAACTTGGGCTAGAAACTGAGACCCCCATCTCTACAAAAAAATAAAATAATTAACCGGGCAAGGTGGTGCACGCCCATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAATAAAAAGCCCCAATTCCTAATTGCCAAGTCGTGTCTCCACGTTGAACATGAAGCTGGAAAGAAGTCCAGCCAGAGGGAAATTCTGACAGTAAGCGACAGGGCAAAGGAGACGCTGGCCTCTTCCTAGTGGAGCGTGGGATGGGAAAACAGTTCTTACCTTTCAAATTCAATGTCCAGTTCAAAATCCATGTAATTCTCCAGGAACACCCCCTTTGCTACCTGCAGTGAGAGTTTCTGCAAGTCTTGACAATGCTTCAGGCTGAAGGAACAATGCATCACTTCAGAAGTATTTGTCAGGTGAATAGAAATTTCCTTGAACGGGGCCACCACCACCTTCGCCAGCTCCTCCTCCTGAGACTCATACAGGCAGCCCAAGACCTCCTTCAGGTCGGTCACGGATAAGGGCTTATTTGCATGAAGATGTGCTTTGCATTGCAGCAATTCCTGTTTGATGTCCGGTGACATCCGGCAGCCAAAAGTGGCCTCCAACTCCTTGGCTCTCTTCTCGTTAGCGAGGCCGAATAAGAAGTGTCCTACTTGAATCAGGTCGGGGTTCTTGAGTCTTTCTTCTCCGGAAAGCAGCTTCTGTACGTCCCCGATGTCCCAGGCGTGGCCGTCCCTGTCCTCCCCCTCCTCCTTCTCCAGGGCGTAGAACAGGGCAGTGAGAAACTGCTGGAAGCTGAGGTGGATGAAGGAGTAGCAGCCTTTGGAGACTCTGTCCTGGCGGAGGATGTCTCCGTCCAGGAACAGACGGAGGTCGGACTCCTGCACCCCGAGCCTTTCCAGGTCCTCTCGGTGGAACACGGACATCTGCGCCCACAGGCCCTGCGCGGCCAGGAGGCTCAGCGTCCGCAGCGCGCCCCGCAGCTGTGCGCCCTGCGGGAACCGGCTGCAGAGGAAACGCAGGAACAGCCCCGTGCGGGTGAGGCAGGTGGGGACCGGGTCCTCCCCCTTCTCCATCTGCAGCTTCAGAGTCGTGCACACAATCCAGCACACCGCGGGGGCCGAGCCCAGCTGGAACAGGGCCGCGTTGCTCCTCATTAGCTCAAAGGCACGCATGGCTTGGTCCTCGTCTCCAAAGTGTCTCAGGAAATAGGCCCTCCTGTCCTCCTCCAGGAAGCCCTCCACCCTTACGTAGATCGGCTGCTGCGCCAGGAGCTGGAGGTCCCTCAGTGCCCTGGGCCGCGTGGTGACCAGCAAGGCTGCCCTGGGTAACATCTTCCTCTTCAGCAAACTCCCCAGGAGGACGGGCACCGGCTTCTTCTTCTCCCAGTCCCCGCAGATGTCCTGGATCAGCGCCCCAGGTGGGACTTTCAGCTCATCAAGGCCATCGACCACGAACAGGATTCTCTGTGCTTGGGCTAGGATGCTTGGAATGTCATCCTGCAATTCAGGCCAGTCTTTGGAGATCAG
GGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGTCTTCTTCCCAATGAAAGCAAGACAGAAGTCCCGGTACGCGGTGTCAGGGGTGACGTTTTTAATCCTAGGGAAAAGCAGAAGAGATTCCACTTGGAGTGATTAATACTCACATTGTGTGGAGGCATGTATAAACAAAAAGCTGTTTCACATTTAGAAATTATTAGAAGTTCTTGGCCGGGTGCAGTGGCTCGTGTCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATAACCTGAGGTCAGGAGTCTGAGACCAACCTGGGCAACATGGTGAAACTCCATCTCTACAAAAAATAAATTAGCTGGGGCCGAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGCACATGGAGGGGCATGCTTGTAGTCCCAGGTATTCGGGAGGCTGAGGTAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAATTCGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAATTACAAAAAACTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGGGCTTGCAGTGAGCCGAGATTGCTGCACTGCACTCCAGCCTGGGGAACATAGCGAGACTGTCTCAAAAAAAAAAAAAAAAGTCAAGAAGCAGAGGATCAGGAAAAACAACTAAGGGGTACTAGGCTTAATACTTGGGTGACAAAATAATCTGTACAACAAACTCCTATGACACACGGTTACCTGTGTAACTAACCTGTACTTGTACCTACTTTTTGGTTTGTTTTGGTAACAAAACAAACCAAAAAAAAGATAGCTGGGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCGAAGACCGAGGCAGGCGCATCACCTTAGGTCAGGAGTTCGAGACAAGCCTGGCCAAGATGGAGAAAATTCCACCTCTACTAAAAACACAAGATTAAGTCATTGCACTCCAGCGCCTAGGTGACAGAGTGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTCACCAAAAAAAAAAAAAAAAAAAAAGACAGCTGGAAAATCCCCAAATACATGGAGATGAAACAGCACATTTCCAAATTTAAAAAACAAAAGTACAAGAAGCTTAGTCATCGTTCAGGGTCTTCCTTGCAAGATGAGCTTCTACTTACTCCACTTTCTGCAGATGACAGGTGCTACGGGTTACGTGGTCACAAAGAATCCACACAGAAGAGTCACTCAGGAAGCTTTGTTTCACTTCCAGAAACTTGAGGTTGCTGTTTGAGCTGAAGAGAGAGCAGAAATCTGTCCAGAGGCGAAGAGAGCGAAGATCCTGCCGAGCCCAGTTCGGAATGGTTAGGTAAGTGCACCTGCAGGAGAACACACGTTCATCTCTTAGGACTAGTACCTGCATGGTGAGATGGGCATCTGCAAACCACATTTCAATGGCAAAAACCACAATTACTTTTGCACCAACCTAAAACAGTGTCTATAGTAAACAATATTGCATCACATGCTTTGCTACCAGTATAGATCTTAAGTTTTACAAAAAAAATAAAATAATAGATAAGGCTGAGTGAGGTGGCTCATGCCTGTAATCCCAACACTTTGCTAGGCCAAAGTGGGAAGATCACTTGAGCCCAGGAGTTTAAGACCAACTTGGGCTAGAAACTGAGACCCCCATCTCTACAAAAAAATAAAATAATTAACCGGGCAAGGTGGTGCACGCCCATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAATAAAAAGCCCCAATTCCTAATTGCCAAGTCGTGTCTCCACGTTGAACATGAAGCTGGAAAGAAGTCCAGCCAGAGGGAAATTCTGACAGTAAGCGACAGGGCAAAGGAGACGCTGGCCTCTTCCTAGTGGAGCGTGGGATGGGAAAACAGTTCTTACCTTTCAAATTCAATGTCCAGTTCAAAATCCATGTAATTCTCCAGGAACACCCCCTTTGCTACCTGCAGTGAGAGTTTCTGCAAGTCTTGACAATGCTTCAGGCTGAAGGAACAATGCATCACTTCAGAAGTATTTGTCAGGTGAATAGAAATTTCCTTGAACGGGGCCACCACCACCTTCGCCAGCTCCTCCTCCTGAGACTCATACAGGCAGCCCAAGACCTCCTTCAGGTCGGTCACGGATAAGGGCTTATTTGCATGAAGATGTGCTTTGCATTGCAGCAATTCCTGTTTGATGTCCGGTGACATCCGGCAGCCAAAAGTGGCCTCCAACTCCTTGGCTCTCTTCTCGTTAGCGAGGCCGAATAAGAAGTGTCCTACTTGAATCAGGTCGGGGTTCTTGAGTCTTTCTTCTCCGGAAAGCAGCTTCTGTACGTCCCCGATGTCCCAGGCGTGGCCGTCCCTGTCCTCCCCCTCCTCCTTCTCCAGGGCGTAGAACAGGGCAGTGAGAAACTGCTGGAAGCTGAGGTGGATGAAGGAGTAGCAGCCTTTGGAGACTCTGTCCTGGCGGAGGATGTCTCCGTCCAGGAACAGACGGAGGTCGGACTCCTGCACCCCGAGCCTTTCCAGGTCCTCTCGGTGGAACACGGACATCTGCGCCCACAGGCCCTGCGCGGCCAGGAGGCTCAGCGTCCGCAGCGCGCCCCGCAGCTGTGCGCCCTGCGGGAACCGGCTGCAGAGGAAACGCAGGAACAGCCCCGTGCGGGTGAGGCAGGTGGGGACCGGGTCCTCCCCCTTCTCCATCTGCAGCTTCAGAGTCGTGCACACAATCCAGCACACCGCGGGGGCCGAGCCCAGCTGGAACAGGGCCGCGTTGCTCCTCATTAGCTCAAAGGCACGCATGGCTTGGTCCTCGTCTCCAAAGTGTCTCAGGAAATAGGCCCTCCTGTCCTCCTCCAGGAAGCCCTCCACCCTTACGTAGATCGGCTGCTGCGCCAGGAGCTGGAGGTCCCTCAGTGCCCTGGGCCGCGTGGTGACCAGCAAGGCTGCCCTGGGTAACATCTTCCTCTTCAGCAAACTCCCCAGGAGGACGGGCACCGGCTTCTTCTTCTCCCAGTCCCCGCAGATGTCCTGGATCAGCGCCCCAGGTGGGACTTTCAGCTCATCAAGGCCATCGACCACGAACAGGATTCTCTGTGCTTGGGCTAGGATGCTTGGAATGTCATCCTGCAATTCAGGCCAGTCTTTGGAGATCAG
Task1_train_27530
This is a variant in NLRP7 (NLR family pyrin domain containing 7), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; Hydatidiform mole, recurrent, 1
GGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGTCTTCTTCCCAATGAAAGCAAGACAGAAGTCCCGGTACGCGGTGTCAGGGGTGACGTTTTTAATCCTAGGGAAAAGCAGAAGAGATTCCACTTGGAGTGATTAATACTCACATTGTGTGGAGGCATGTATAAACAAAAAGCTGTTTCACATTTAGAAATTATTAGAAGTTCTTGGCCGGGTGCAGTGGCTCGTGTCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATAACCTGAGGTCAGGAGTCTGAGACCAACCTGGGCAACATGGTGAAACTCCATCTCTACAAAAAATAAATTAGCTGGGGCCGAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGCACATGGAGGGGCATGCTTGTAGTCCCAGGTATTCGGGAGGCTGAGGTAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAATTCGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAATTACAAAAAACTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGGGCTTGCAGTGAGCCGAGATTGCTGCACTGCACTCCAGCCTGGGGAACATAGCGAGACTGTCTCAAAAAAAAAAAAAAAAGTCAAGAAGCAGAGGATCAGGAAAAACAACTAAGGGGTACTAGGCTTAATACTTGGGTGACAAAATAATCTGTACAACAAACTCCTATGACACACGGTTACCTGTGTAACTAACCTGTACTTGTACCTACTTTTTGGTTTGTTTTGGTAACAAAACAAACCAAAAAAAAGATAGCTGGGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCGAAGACCGAGGCAGGCGCATCACCTTAGGTCAGGAGTTCGAGACAAGCCTGGCCAAGATGGAGAAAATTCCACCTCTACTAAAAACACAAGATTAAGTCATTGCACTCCAGCGCCTAGGTGACAGAGTGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTCACCAAAAAAAAAAAAAAAAAAAAAGACAGCTGGAAAATCCCCAAATACATGGAGATGAAACAGCACATTTCCAAATTTAAAAAACAAAAGTACAAGAAGCTTAGTCATCGTTCAGGGTCTTCCTTGCAAGATGAGCTTCTACTTACTCCACTTTCTGCAGATGACAGGTGCTACGGGTTACGTGGTCACAAAGAATCCGCACAGAAGAGTCACTCAGGAAGCTTTGTTTCACTTCCAGAAACTTGAGGTTGCTGTTTGAGCTGAAGAGAGAGCAGAAATCTGTCCAGAGGCGAAGAGAGCGAAGATCCTGCCGAGCCCAGTTCGGAATGGTTAGGTAAGTGCACCTGCAGGAGAACACACGTTCATCTCTTAGGACTAGTACCTGCATGGTGAGATGGGCATCTGCAAACCACATTTCAATGGCAAAAACCACAATTACTTTTGCACCAACCTAAAACAGTGTCTATAGTAAACAATATTGCATCACATGCTTTGCTACCAGTATAGATCTTAAGTTTTACAAAAAAAATAAAATAATAGATAAGGCTGAGTGAGGTGGCTCATGCCTGTAATCCCAACACTTTGCTAGGCCAAAGTGGGAAGATCACTTGAGCCCAGGAGTTTAAGACCAACTTGGGCTAGAAACTGAGACCCCCATCTCTACAAAAAAATAAAATAATTAACCGGGCAAGGTGGTGCACGCCCATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAATAAAAAGCCCCAATTCCTAATTGCCAAGTCGTGTCTCCACGTTGAACATGAAGCTGGAAAGAAGTCCAGCCAGAGGGAAATTCTGACAGTAAGCGACAGGGCAAAGGAGACGCTGGCCTCTTCCTAGTGGAGCGTGGGATGGGAAAACAGTTCTTACCTTTCAAATTCAATGTCCAGTTCAAAATCCATGTAATTCTCCAGGAACACCCCCTTTGCTACCTGCAGTGAGAGTTTCTGCAAGTCTTGACAATGCTTCAGGCTGAAGGAACAATGCATCACTTCAGAAGTATTTGTCAGGTGAATAGAAATTTCCTTGAACGGGGCCACCACCACCTTCGCCAGCTCCTCCTCCTGAGACTCATACAGGCAGCCCAAGACCTCCTTCAGGTCGGTCACGGATAAGGGCTTATTTGCATGAAGATGTGCTTTGCATTGCAGCAATTCCTGTTTGATGTCCGGTGACATCCGGCAGCCAAAAGTGGCCTCCAACTCCTTGGCTCTCTTCTCGTTAGCGAGGCCGAATAAGAAGTGTCCTACTTGAATCAGGTCGGGGTTCTTGAGTCTTTCTTCTCCGGAAAGCAGCTTCTGTACGTCCCCGATGTCCCAGGCGTGGCCGTCCCTGTCCTCCCCCTCCTCCTTCTCCAGGGCGTAGAACAGGGCAGTGAGAAACTGCTGGAAGCTGAGGTGGATGAAGGAGTAGCAGCCTTTGGAGACTCTGTCCTGGCGGAGGATGTCTCCGTCCAGGAACAGACGGAGGTCGGACTCCTGCACCCCGAGCCTTTCCAGGTCCTCTCGGTGGAACACGGACATCTGCGCCCACAGGCCCTGCGCGGCCAGGAGGCTCAGCGTCCGCAGCGCGCCCCGCAGCTGTGCGCCCTGCGGGAACCGGCTGCAGAGGAAACGCAGGAACAGCCCCGTGCGGGTGAGGCAGGTGGGGACCGGGTCCTCCCCCTTCTCCATCTGCAGCTTCAGAGTCGTGCACACAATCCAGCACACCGCGGGGGCCGAGCCCAGCTGGAACAGGGCCGCGTTGCTCCTCATTAGCTCAAAGGCACGCATGGCTTGGTCCTCGTCTCCAAAGTGTCTCAGGAAATAGGCCCTCCTGTCCTCCTCCAGGAAGCCCTCCACCCTTACGTAGATCGGCTGCTGCGCCAGGAGCTGGAGGTCCCTCAGTGCCCTGGGCCGCGTGGTGACCAGCAAGGCTGCCCTGGGTAACATCTTCCTCTTCAGCAAACTCCCCAGGAGGACGGGCACCGGCTTCTTCTTCTCCCAGTCCCCGCAGATGTCCTGGATCAGCGCCCCAGGTGGGACTTTCAGCTCATCAAGGCCATCGACCACGAACAGGATTCTCTGTGCTTGGGCTAGGATGCTTGGAATGTCATCCTGCAATTCAGGCCAGTCTTTGGAGATCAGCTCTGCAAAACTGCAGGGGCCCATGCGGCTGAGCTCCTTGCAGCTGAGGTAGAACGCGTATCTGAGCGTCGGGCTGAGGTTGCAGTCTGTCCAGTCCAGCATACACTTTTTGGCCAGCGTGGTTTT
GGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGTCTTCTTCCCAATGAAAGCAAGACAGAAGTCCCGGTACGCGGTGTCAGGGGTGACGTTTTTAATCCTAGGGAAAAGCAGAAGAGATTCCACTTGGAGTGATTAATACTCACATTGTGTGGAGGCATGTATAAACAAAAAGCTGTTTCACATTTAGAAATTATTAGAAGTTCTTGGCCGGGTGCAGTGGCTCGTGTCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATAACCTGAGGTCAGGAGTCTGAGACCAACCTGGGCAACATGGTGAAACTCCATCTCTACAAAAAATAAATTAGCTGGGGCCGAGGCAGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGCACATGGAGGGGCATGCTTGTAGTCCCAGGTATTCGGGAGGCTGAGGTAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAATTCGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAATTACAAAAAACTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGGGCTTGCAGTGAGCCGAGATTGCTGCACTGCACTCCAGCCTGGGGAACATAGCGAGACTGTCTCAAAAAAAAAAAAAAAAGTCAAGAAGCAGAGGATCAGGAAAAACAACTAAGGGGTACTAGGCTTAATACTTGGGTGACAAAATAATCTGTACAACAAACTCCTATGACACACGGTTACCTGTGTAACTAACCTGTACTTGTACCTACTTTTTGGTTTGTTTTGGTAACAAAACAAACCAAAAAAAAGATAGCTGGGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTCGAAGACCGAGGCAGGCGCATCACCTTAGGTCAGGAGTTCGAGACAAGCCTGGCCAAGATGGAGAAAATTCCACCTCTACTAAAAACACAAGATTAAGTCATTGCACTCCAGCGCCTAGGTGACAGAGTGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTCACCAAAAAAAAAAAAAAAAAAAAAGACAGCTGGAAAATCCCCAAATACATGGAGATGAAACAGCACATTTCCAAATTTAAAAAACAAAAGTACAAGAAGCTTAGTCATCGTTCAGGGTCTTCCTTGCAAGATGAGCTTCTACTTACTCCACTTTCTGCAGATGACAGGTGCTACGGGTTACGTGGTCACAAAGAATCCGCACAGAAGAGTCACTCAGGAAGCTTTGTTTCACTTCCAGAAACTTGAGGTTGCTGTTTGAGCTGAAGAGAGAGCAGAAATCTGTCCAGAGGCGAAGAGAGCGAAGATCCTGCCGAGCCCAGTTCGAAATGGTTAGGTAAGTGCACCTGCAGGAGAACACACGTTCATCTCTTAGGACTAGTACCTGCATGGTGAGATGGGCATCTGCAAACCACATTTCAATGGCAAAAACCACAATTACTTTTGCACCAACCTAAAACAGTGTCTATAGTAAACAATATTGCATCACATGCTTTGCTACCAGTATAGATCTTAAGTTTTACAAAAAAAATAAAATAATAGATAAGGCTGAGTGAGGTGGCTCATGCCTGTAATCCCAACACTTTGCTAGGCCAAAGTGGGAAGATCACTTGAGCCCAGGAGTTTAAGACCAACTTGGGCTAGAAACTGAGACCCCCATCTCTACAAAAAAATAAAATAATTAACCGGGCAAGGTGGTGCACGCCCATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAATAAAAAGCCCCAATTCCTAATTGCCAAGTCGTGTCTCCACGTTGAACATGAAGCTGGAAAGAAGTCCAGCCAGAGGGAAATTCTGACAGTAAGCGACAGGGCAAAGGAGACGCTGGCCTCTTCCTAGTGGAGCGTGGGATGGGAAAACAGTTCTTACCTTTCAAATTCAATGTCCAGTTCAAAATCCATGTAATTCTCCAGGAACACCCCCTTTGCTACCTGCAGTGAGAGTTTCTGCAAGTCTTGACAATGCTTCAGGCTGAAGGAACAATGCATCACTTCAGAAGTATTTGTCAGGTGAATAGAAATTTCCTTGAACGGGGCCACCACCACCTTCGCCAGCTCCTCCTCCTGAGACTCATACAGGCAGCCCAAGACCTCCTTCAGGTCGGTCACGGATAAGGGCTTATTTGCATGAAGATGTGCTTTGCATTGCAGCAATTCCTGTTTGATGTCCGGTGACATCCGGCAGCCAAAAGTGGCCTCCAACTCCTTGGCTCTCTTCTCGTTAGCGAGGCCGAATAAGAAGTGTCCTACTTGAATCAGGTCGGGGTTCTTGAGTCTTTCTTCTCCGGAAAGCAGCTTCTGTACGTCCCCGATGTCCCAGGCGTGGCCGTCCCTGTCCTCCCCCTCCTCCTTCTCCAGGGCGTAGAACAGGGCAGTGAGAAACTGCTGGAAGCTGAGGTGGATGAAGGAGTAGCAGCCTTTGGAGACTCTGTCCTGGCGGAGGATGTCTCCGTCCAGGAACAGACGGAGGTCGGACTCCTGCACCCCGAGCCTTTCCAGGTCCTCTCGGTGGAACACGGACATCTGCGCCCACAGGCCCTGCGCGGCCAGGAGGCTCAGCGTCCGCAGCGCGCCCCGCAGCTGTGCGCCCTGCGGGAACCGGCTGCAGAGGAAACGCAGGAACAGCCCCGTGCGGGTGAGGCAGGTGGGGACCGGGTCCTCCCCCTTCTCCATCTGCAGCTTCAGAGTCGTGCACACAATCCAGCACACCGCGGGGGCCGAGCCCAGCTGGAACAGGGCCGCGTTGCTCCTCATTAGCTCAAAGGCACGCATGGCTTGGTCCTCGTCTCCAAAGTGTCTCAGGAAATAGGCCCTCCTGTCCTCCTCCAGGAAGCCCTCCACCCTTACGTAGATCGGCTGCTGCGCCAGGAGCTGGAGGTCCCTCAGTGCCCTGGGCCGCGTGGTGACCAGCAAGGCTGCCCTGGGTAACATCTTCCTCTTCAGCAAACTCCCCAGGAGGACGGGCACCGGCTTCTTCTTCTCCCAGTCCCCGCAGATGTCCTGGATCAGCGCCCCAGGTGGGACTTTCAGCTCATCAAGGCCATCGACCACGAACAGGATTCTCTGTGCTTGGGCTAGGATGCTTGGAATGTCATCCTGCAATTCAGGCCAGTCTTTGGAGATCAGCTCTGCAAAACTGCAGGGGCCCATGCGGCTGAGCTCCTTGCAGCTGAGGTAGAACGCGTATCTGAGCGTCGGGCTGAGGTTGCAGTCTGTCCAGTCCAGCATACACTTTTTGGCCAGCGTGGTTTT
Task1_train_27531
This sequence change occurs on Chromosome 19, altering NLRP7 (NLR family pyrin domain containing 7). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Hydatidiform mole, recurrent, 1
TGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTCACCAAAAAAAAAAAAAAAAAAAAAGACAGCTGGAAAATCCCCAAATACATGGAGATGAAACAGCACATTTCCAAATTTAAAAAACAAAAGTACAAGAAGCTTAGTCATCGTTCAGGGTCTTCCTTGCAAGATGAGCTTCTACTTACTCCACTTTCTGCAGATGACAGGTGCTACGGGTTACGTGGTCACAAAGAATCCGCACAGAAGAGTCACTCAGGAAGCTTTGTTTCACTTCCAGAAACTTGAGGTTGCTGTTTGAGCTGAAGAGAGAGCAGAAATCTGTCCAGAGGCGAAGAGAGCGAAGATCCTGCCGAGCCCAGTTCGGAATGGTTAGGTAAGTGCACCTGCAGGAGAACACACGTTCATCTCTTAGGACTAGTACCTGCATGGTGAGATGGGCATCTGCAAACCACATTTCAATGGCAAAAACCACAATTACTTTTGCACCAACCTAAAACAGTGTCTATAGTAAACAATATTGCATCACATGCTTTGCTACCAGTATAGATCTTAAGTTTTACAAAAAAAATAAAATAATAGATAAGGCTGAGTGAGGTGGCTCATGCCTGTAATCCCAACACTTTGCTAGGCCAAAGTGGGAAGATCACTTGAGCCCAGGAGTTTAAGACCAACTTGGGCTAGAAACTGAGACCCCCATCTCTACAAAAAAATAAAATAATTAACCGGGCAAGGTGGTGCACGCCCATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAATAAAAAGCCCCAATTCCTAATTGCCAAGTCGTGTCTCCACGTTGAACATGAAGCTGGAAAGAAGTCCAGCCAGAGGGAAATTCTGACAGTAAGCGACAGGGCAAAGGAGACGCTGGCCTCTTCCTAGTGGAGCGTGGGATGGGAAAACAGTTCTTACCTTTCAAATTCAATGTCCAGTTCAAAATCCATGTAATTCTCCAGGAACACCCCCTTTGCTACCTGCAGTGAGAGTTTCTGCAAGTCTTGACAATGCTTCAGGCTGAAGGAACAATGCATCACTTCAGAAGTATTTGTCAGGTGAATAGAAATTTCCTTGAACGGGGCCACCACCACCTTCGCCAGCTCCTCCTCCTGAGACTCATACAGGCAGCCCAAGACCTCCTTCAGGTCGGTCACGGATAAGGGCTTATTTGCATGAAGATGTGCTTTGCATTGCAGCAATTCCTGTTTGATGTCCGGTGACATCCGGCAGCCAAAAGTGGCCTCCAACTCCTTGGCTCTCTTCTCGTTAGCGAGGCCGAATAAGAAGTGTCCTACTTGAATCAGGTCGGGGTTCTTGAGTCTTTCTTCTCCGGAAAGCAGCTTCTGTACGTCCCCGATGTCCCAGGCGTGGCCGTCCCTGTCCTCCCCCTCCTCCTTCTCCAGGGCGTAGAACAGGGCAGTGAGAAACTGCTGGAAGCTGAGGTGGATGAAGGAGTAGCAGCCTTTGGAGACTCTGTCCTGGCGGAGGATGTCTCCGTCCAGGAACAGACGGAGGTCGGACTCCTGCACCCCGAGCCTTTCCAGGTCCTCTCGGTGGAACACGGACATCTGCGCCCACAGGCCCTGCGCGGCCAGGAGGCTCAGCGTCCGCAGCGCGCCCCGCAGCTGTGCGCCCTGCGGGAACCGGCTGCAGAGGAAACGCAGGAACAGCCCCGTGCGGGTGAGGCAGGTGGGGACCGGGTCCTCCCCCTTCTCCATCTGCAGCTTCAGAGTCGTGCACACAATCCAGCACACCGCGGGGGCCGAGCCCAGCTGGAACAGGGCCGCGTTGCTCCTCATTAGCTCAAAGGCACGCATGGCTTGGTCCTCGTCTCCAAAGTGTCTCAGGAAATAGGCCCTCCTGTCCTCCTCCAGGAAGCCCTCCACCCTTACGTAGATCGGCTGCTGCGCCAGGAGCTGGAGGTCCCTCAGTGCCCTGGGCCGCGTGGTGACCAGCAAGGCTGCCCTGGGTAACATCTTCCTCTTCAGCAAACTCCCCAGGAGGACGGGCACCGGCTTCTTCTTCTCCCAGTCCCCGCAGATGTCCTGGATCAGCGCCCCAGGTGGGACTTTCAGCTCATCAAGGCCATCGACCACGAACAGGATTCTCTGTGCTTGGGCTAGGATGCTTGGAATGTCATCCTGCAATTCAGGCCAGTCTTTGGAGATCAGCTCTGCAAAACTGCAGGGGCCCATGCGGCTGAGCTCCTTGCAGCTGAGGTAGAACGCGTATCTGAGCGTCGGGCTGAGGTTGCAGTCTGTCCAGTCCAGCATACACTTTTTGGCCAGCGTGGTTTTCCCCACGCCTGCGGGGCCGTGCAGCACCACCGTGTAAGGTGTTAGCTTCCTGGGTGTTCTGGGATTCAAGAATGGAATGAACCGTTGGTTTCTCAGAGTGACGTCGTCATGGAAATTGTCAATGTCTCCTTGCCAAAAGGTGTTCTTCCAGACCAAAGACTGTTTCTCCATTGAATTTCTCCATCCTTCCTTTTCACCTGCAGTGACAGCCCATAGGACAGTTGAGGTTGATGATGATGATTTTCTGAATTATTTTGTCAAGTACCAGAAATGAGGGCCAGGCACGGTGTCTCATGCTTGTAATCCCGGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATAGTGAAACCCCATCTCTACTAAAAATACAAAACATTAGCTGGGGGTAGTGGCGGCCGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAATGAGCAGAGACGGAGCCACTACACTCCAGCCTGGGCTACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAACTACCAGAAATGAATAAAACCAGGAAGAAGTGATGCACCTTGCATGCTCTCAAACACCAAACTCATGACCATAGGACCGTATTTACCCACCTGGCTTTGCTAACTCCGAGTCTTCTTCTGCATCTCCCAGCTCAGGATTATCTATTTCTTGCACCTGTCCGTCCTCTGTAAAATACTTAGATGTAAGCCTGACACAGTAATTTACACTTCGTAAATCAGACATTATTGTACATAAAGTGTCAGCCAGGCATGGTGGCTCATGCCTGTAATCACAGCACTTTGGAAGGCTGAGGTGGGCGGATCACAAGGTCAGGAGATCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCAGGTGTGGTGAAACACGCCTGTAATCCCAGCTACTCCGGAGGCTGAGATAGGAGAATCACTTGAACCCAGAGGCGGAGGTTGCAGTGAGCCCAGATCTCGCCACTGCACTCCAGCCTTACACTCCAGCCTGGGCGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATGACCAGGACACCCCAGGTTCTACTTACCCATCATCTCAGCCTTTGCCATCTTACACAATTCCGTGAGATTCATCTCTTCCAAGATGTTCACAGTCGCATTCCTTATCCAATTTTCTGAGGAGGTGTTGACCAGAATTTCTGCCAGTTTCTTGCCATCAGCCTCTTCCACCTCAGACCATGGGGTCTTCTGTAGCACGTCTTCGAGGGGAAAAGCCCATAAAAGGGATTTGAAACTCTTTAATTCATCCTCGTTCAGCTGCTCCAGA
TGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTCACCAAAAAAAAAAAAAAAAAAAAAGACAGCTGGAAAATCCCCAAATACATGGAGATGAAACAGCACATTTCCAAATTTAAAAAACAAAAGTACAAGAAGCTTAGTCATCGTTCAGGGTCTTCCTTGCAAGATGAGCTTCTACTTACTCCACTTTCTGCAGATGACAGGTGCTACGGGTTACGTGGTCACAAAGAATCCGCACAGAAGAGTCACTCAGGAAGCTTTGTTTCACTTCCAGAAACTTGAGGTTGCTGTTTGAGCTGAAGAGAGAGCAGAAATCTGTCCAGAGGCGAAGAGAGCGAAGATCCTGCCGAGCCCAGTTCGGAATGGTTAGGTAAGTGCACCTGCAGGAGAACACACGTTCATCTCTTAGGACTAGTACCTGCATGGTGAGATGGGCATCTGCAAACCACATTTCAATGGCAAAAACCACAATTACTTTTGCACCAACCTAAAACAGTGTCTATAGTAAACAATATTGCATCACATGCTTTGCTACCAGTATAGATCTTAAGTTTTACAAAAAAAATAAAATAATAGATAAGGCTGAGTGAGGTGGCTCATGCCTGTAATCCCAACACTTTGCTAGGCCAAAGTGGGAAGATCACTTGAGCCCAGGAGTTTAAGACCAACTTGGGCTAGAAACTGAGACCCCCATCTCTACAAAAAAATAAAATAATTAACCGGGCAAGGTGGTGCACGCCCATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAATAAAAAGCCCCAATTCCTAATTGCCAAGTCGTGTCTCCACGTTGAACATGAAGCTGGAAAGAAGTCCAGCCAGAGGGAAATTCTGACAGTAAGCGACAGGGCAAAGGAGACGCTGGCCTCTTCCTAGTGGAGCGTGGGATGGGAAAACAGTTCTTACCTTTCAAATTCAATGTCCAGTTCAAAATCCATGTAATTCTCCAGGAACACCCCCTTTGCTACCTGCAGTGAGAGTTTCTGCAAGTCTTGACAATGCTTCAGGCTGAAGGAACAATGCATCACTTCAGAAGTATTTGTCAGGTGAATAGAAATTTCCTTGAACGGGGCCACCACCACCTTCGCCAGCTCCTCCTCCTGAGACTCATACAGGCAGCCCAAGACCTCCTTCAGGTCGGTCACGGATAAGGGCTTATTTGCATGAAGATGTGCTTTGCATTGCAGCAATTCCTGTTTGATGTCCGGTGACATCCGGCAGCCAAAAGTGGCCTCCAACTCCTTGGCTCTCTTCTCGTTAGCGAGGCCGAATAAGAAGTGTCCTACTTGAATCAGGTCGGGGTTCTTGAGTCTTTCTTCTCCGGAAAGCAGCTTCTGTACGTCCCCGATGTCCCAGGCGTGGCCGTCCCTGTCCTCCCCCTCCTCCTTCTCCAGGGCGTAGAACAGGGCAGTGAGAAACTGCTGGAAGCTGAGGTGGATGAAGGAGTAGCAGCCTTTGGAGACTCTGTCCTGGCGGAGGATGTCTCCGTCCAGGAACAGACGGAGGTCGGACTCCTGCACCCCGAGCCTTTCCAGGTCCTCTCGGTGGAACACGGACATCTGCGCCCACAGGCCCTGCGCGGCCAGGAGGCTCAGCGTCCGCAGCGCGCCCCGCAGCTGTGCGCCCTGCGGGAACCGGCTGCAGCGGAAACGCAGGAACAGCCCCGTGCGGGTGAGGCAGGTGGGGACCGGGTCCTCCCCCTTCTCCATCTGCAGCTTCAGAGTCGTGCACACAATCCAGCACACCGCGGGGGCCGAGCCCAGCTGGAACAGGGCCGCGTTGCTCCTCATTAGCTCAAAGGCACGCATGGCTTGGTCCTCGTCTCCAAAGTGTCTCAGGAAATAGGCCCTCCTGTCCTCCTCCAGGAAGCCCTCCACCCTTACGTAGATCGGCTGCTGCGCCAGGAGCTGGAGGTCCCTCAGTGCCCTGGGCCGCGTGGTGACCAGCAAGGCTGCCCTGGGTAACATCTTCCTCTTCAGCAAACTCCCCAGGAGGACGGGCACCGGCTTCTTCTTCTCCCAGTCCCCGCAGATGTCCTGGATCAGCGCCCCAGGTGGGACTTTCAGCTCATCAAGGCCATCGACCACGAACAGGATTCTCTGTGCTTGGGCTAGGATGCTTGGAATGTCATCCTGCAATTCAGGCCAGTCTTTGGAGATCAGCTCTGCAAAACTGCAGGGGCCCATGCGGCTGAGCTCCTTGCAGCTGAGGTAGAACGCGTATCTGAGCGTCGGGCTGAGGTTGCAGTCTGTCCAGTCCAGCATACACTTTTTGGCCAGCGTGGTTTTCCCCACGCCTGCGGGGCCGTGCAGCACCACCGTGTAAGGTGTTAGCTTCCTGGGTGTTCTGGGATTCAAGAATGGAATGAACCGTTGGTTTCTCAGAGTGACGTCGTCATGGAAATTGTCAATGTCTCCTTGCCAAAAGGTGTTCTTCCAGACCAAAGACTGTTTCTCCATTGAATTTCTCCATCCTTCCTTTTCACCTGCAGTGACAGCCCATAGGACAGTTGAGGTTGATGATGATGATTTTCTGAATTATTTTGTCAAGTACCAGAAATGAGGGCCAGGCACGGTGTCTCATGCTTGTAATCCCGGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATAGTGAAACCCCATCTCTACTAAAAATACAAAACATTAGCTGGGGGTAGTGGCGGCCGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAATGAGCAGAGACGGAGCCACTACACTCCAGCCTGGGCTACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAACTACCAGAAATGAATAAAACCAGGAAGAAGTGATGCACCTTGCATGCTCTCAAACACCAAACTCATGACCATAGGACCGTATTTACCCACCTGGCTTTGCTAACTCCGAGTCTTCTTCTGCATCTCCCAGCTCAGGATTATCTATTTCTTGCACCTGTCCGTCCTCTGTAAAATACTTAGATGTAAGCCTGACACAGTAATTTACACTTCGTAAATCAGACATTATTGTACATAAAGTGTCAGCCAGGCATGGTGGCTCATGCCTGTAATCACAGCACTTTGGAAGGCTGAGGTGGGCGGATCACAAGGTCAGGAGATCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCAGGTGTGGTGAAACACGCCTGTAATCCCAGCTACTCCGGAGGCTGAGATAGGAGAATCACTTGAACCCAGAGGCGGAGGTTGCAGTGAGCCCAGATCTCGCCACTGCACTCCAGCCTTACACTCCAGCCTGGGCGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATGACCAGGACACCCCAGGTTCTACTTACCCATCATCTCAGCCTTTGCCATCTTACACAATTCCGTGAGATTCATCTCTTCCAAGATGTTCACAGTCGCATTCCTTATCCAATTTTCTGAGGAGGTGTTGACCAGAATTTCTGCCAGTTTCTTGCCATCAGCCTCTTCCACCTCAGACCATGGGGTCTTCTGTAGCACGTCTTCGAGGGGAAAAGCCCATAAAAGGGATTTGAAACTCTTTAATTCATCCTCGTTCAGCTGCTCCAGA
Task1_train_27532
This mutation is located in gene GP6 (glycoprotein VI platelet) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; not specified
ATTAGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGATCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACGCAGTAAGACTCCATCTGAAAAAAAAAGGCTTAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGCAGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAATTAGCTGGGCATGATGGCAGGTGCCTGTAATCCCATCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAACCCAGGAGGTGGAGGTTGCAGTGAACTGAGATCACTCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACTCCCCCCAAAAAAAAAAAAAAAAAAAAAAGCAGCAGCATTTGTAAAGCACACCTGGCACATTCTGGGCTATTAACAAGGAAATGCATGCAGCTCCCGTCCACCTTTTTCAACCTCAGTTCTATTTCTTCTGGATTCCTGTGTCCTACCCCTCACTGTGACCCTGGGGGCAAAACAGATTTTTCTACCAAAAACTAAATGATGTATTTTGTTTGATTTAATATGACATTGTTAAATGTACTGATCAGTGGCGTTGGGTATGTTCACATTGTGGTACAATATGTTGACCTCTAGAACTTATTTTTCTTGCAAAACTGAAATTCTGTGCCCATTAAACACTAATTCCTTCTCTCTCCTCTTTCTGGCCCTTAACAACCACCATTGTACTTTGTGTTTCTACAGTGTTGACATTAGATACCTCCTTTGACTAGAATCATACAGTAGTTGTCCTTTTGTGACTGACTTAGCATAATGTCCTCAAGGTATATCCATGTTGTAGTATGTGTCAGAATTTCCTTCTTTTTTAAGGCTGCATAATATTCCATTGCATGTATATAACCACATTATGAGGTATGCTGCTCTTTTTTGAAAGAAACCCCCTTTAAGAATGGTAGTCAAGTCCGACGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGTTCAAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCGGGCATGGTGGCAGGCACCTGTAATTCCAGCTACTCGAGAGGCTGAGGCAGCAGAATCGCTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCGTCAAAAAAAAAAAAAAGAAACCTCCATTCTCCCAGCTGCCTGTAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTCTGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTCTGGCGCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCTTTCCCACCTATGGCCGCGCCCCTACAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACTTATGGCCCCTCCCTTGGAATGGCCATCAGGACCTATAAAGGCTGAGGAAGAAAGGTTTGGTCTGCACTACCCCTACCTGTGACCACAAGCTCCAGGGGGTCGCTGGGGGCTGACCACAGGTATGGGTCCCTGCTGGAGAAGCTGTAGCATCGGTAGGTTCCGCTGTGGGCGGCGGTCACCGTGATGATGGGAAAACTAGCCCTGTACCATCTCTCGGGATTCTTGTAGGGCGCAGGGTCCCCTTCCTTGTACAGAGCAAATTGGTCAAAGCCATACCGAGTCTGACACTGTAGGGTTACGTCCCCTCCTGACGACACCGCCGGGCCGGGCTGGGCTGAGAGCGAGGGTTTGGCAAAAACTCCTGGGAGAAAAAGAAAGTCTGATGTTGAAGGCAGGAGCCAGCATCTCAGCTGAGACTGGGGAGGTCCCCACACCTGCCTAAGAGCTGGGGAGCTTTTTGGCTGTATCCCTCCCAGAGAGCGCACTCCCCCACCCAAGCTCACAGAGAGGTCGAGTCACCCAGTGGTTGAGGAAGGAGGCTGTGCTCACGTCCTAGTGCTTGGGTGCAAATCCTAGTTCTGCCTTCAGGGGCCTGGTGGCCCTGGAGACAAATCTCCCTCTGTATCTGAGCCTCACTGCCTTGTTCTGTTAAAATGGGGATGACTGAATGAGACAGTACACAGTAATTTGCAGAGTGCCTGTTGCCTAGCAAGCGCTGGAGTAAGTAAATAGCTTAAGCTTATACTGTGCTGTAAGCTTGTATTGCCACATACAATTGTTACGTTGTAAATGTGGCTGACAGTGCTAGCTTCCGGGTGCCTTCCAAACTTATGATGTATATCAGTTCAGTGAATCCTCAGAGACCTATGGAGTCCTCACTCTTAATGTCCCTATTTTATAAATGAAACTAAGGCACATGGCATTAAATAATTTGTCCAACTCTAGGTAACAATACTGCAGTGTACAGCTGAAATTTGCTAAGAGGGTAGATTATAAGTATTCTCACACACAAAAAAGTTAACTGTGTCAGGTGATGTATGTTAATTAGCTTGCTAGTAGTAACTGTCTCACAGTGGATTCGTATATCAAAACATCAACTTGTACACCTTGGATATATTCCATTTTTGTTTTTCAATTATACCTCAACAAAGCTGGACATATTTTAATTTAAAAATAAATAAAAAACTTGTCCAAGATCATAAGTGGCAGAGTTGAAATCTGCACTCACAGAGTTTGATTCCAGGGTCTCCGCTCCTAAACACGAACCTACACTACTCTGATGTGAGGTTGTTGTCATAGACCGGTGTGGTGATGCATGCCTGCACACAGGAGTCAGAAAAACAAAGGTTGAGGCTGGGTGCGGCGGCTCACACCGGTCATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCGCTTGAGCCCAGGAAGGCGAGGCTGCAGTGAGCTATGATCACTGTACACTAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAAAAGACAGAGAGAGAAAGCAAAAGAAAGGAAGTAAGGAAGATAAAAATATAAGCTGCCTAATAATTATGGCATTCACTCAACAAGAAGAAAAAGAAAGAAAGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAATATATAAGCTGCCTGATAACTGTAACATTCACTCAGCAATATTTTCTCTTAATTTTCACTTAAGCAACTATTATGTGTCTGTCTGTATTCTTTTTTTGTTGTTTCATTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGAAACAGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGTTAATTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGTCCACCTCGGCCTCCCAA
ATTAGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGATCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACGCAGTAAGACTCCATCTGAAAAAAAAAGGCTTAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGCAGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAATTAGCTGGGCATGATGGCAGGTGCCTGTAATCCCATCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAACCCAGGAGGTGGAGGTTGCAGTGAACTGAGATCACTCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACTCCCCCCAAAAAAAAAAAAAAAAAAAAAAGCAGCAGCATTTGTAAAGCACACCTGGCACATTCTGGGCTATTAACAAGGAAATGCATGCAGCTCCCGTCCACCTTTTTCAACCTCAGTTCTATTTCTTCTGGATTCCTGTGTCCTACCCCTCACTGTGACCCTGGGGGCAAAACAGATTTTTCTACCAAAAACTAAATGATGTATTTTGTTTGATTTAATATGACATTGTTAAATGTACTGATCAGTGGCGTTGGGTATGTTCACATTGTGGTACAATATGTTGACCTCTAGAACTTATTTTTCTTGCAAAACTGAAATTCTGTGCCCATTAAACACTAATTCCTTCTCTCTCCTCTTTCTGGCCCTTAACAACCACCATTGTACTTTGTGTTTCTACAGTGTTGACATTAGATACCTCCTTTGACTAGAATCATACAGTAGTTGTCCTTTTGTGACTGACTTAGCATAATGTCCTCAAGGTATATCCATGTTGTAGTATGTGTCAGAATTTCCTTCTTTTTTAAGGCTGCATAATATTCCATTGCATGTATATAACCACATTATGAGGTATGCTGCTCTTTTTTGAAAGAAACCCCCTTTAAGAATGGTAGTCAAGTCCGACGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGTTCAAGACCAGCCTGACCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCGGGCATGGTGGCAGGCACCTGTAATTCCAGCTACTCGAGAGGCTGAGGCAGCAGAATCGCTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCGTCAAAAAAAAAAAAAAGAAACCTCCATTCTCCCAGCTGCCTGTAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTCTGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTCTGGCGCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCTTTCCCACCTATGGCCGCGCCCCTACAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACTTATGGCCCCTCCCTTGGAATGGCCATCAGGACCTATAAAGGCTGAGGAAGAAAGGTTTGGTCTGCACTACCCCTACCTGTGACCACAAGCTCCAGGGGGTCGTTGGGGGCTGACCACAGGTATGGGTCCCTGCTGGAGAAGCTGTAGCATCGGTAGGTTCCGCTGTGGGCGGCGGTCACCGTGATGATGGGAAAACTAGCCCTGTACCATCTCTCGGGATTCTTGTAGGGCGCAGGGTCCCCTTCCTTGTACAGAGCAAATTGGTCAAAGCCATACCGAGTCTGACACTGTAGGGTTACGTCCCCTCCTGACGACACCGCCGGGCCGGGCTGGGCTGAGAGCGAGGGTTTGGCAAAAACTCCTGGGAGAAAAAGAAAGTCTGATGTTGAAGGCAGGAGCCAGCATCTCAGCTGAGACTGGGGAGGTCCCCACACCTGCCTAAGAGCTGGGGAGCTTTTTGGCTGTATCCCTCCCAGAGAGCGCACTCCCCCACCCAAGCTCACAGAGAGGTCGAGTCACCCAGTGGTTGAGGAAGGAGGCTGTGCTCACGTCCTAGTGCTTGGGTGCAAATCCTAGTTCTGCCTTCAGGGGCCTGGTGGCCCTGGAGACAAATCTCCCTCTGTATCTGAGCCTCACTGCCTTGTTCTGTTAAAATGGGGATGACTGAATGAGACAGTACACAGTAATTTGCAGAGTGCCTGTTGCCTAGCAAGCGCTGGAGTAAGTAAATAGCTTAAGCTTATACTGTGCTGTAAGCTTGTATTGCCACATACAATTGTTACGTTGTAAATGTGGCTGACAGTGCTAGCTTCCGGGTGCCTTCCAAACTTATGATGTATATCAGTTCAGTGAATCCTCAGAGACCTATGGAGTCCTCACTCTTAATGTCCCTATTTTATAAATGAAACTAAGGCACATGGCATTAAATAATTTGTCCAACTCTAGGTAACAATACTGCAGTGTACAGCTGAAATTTGCTAAGAGGGTAGATTATAAGTATTCTCACACACAAAAAAGTTAACTGTGTCAGGTGATGTATGTTAATTAGCTTGCTAGTAGTAACTGTCTCACAGTGGATTCGTATATCAAAACATCAACTTGTACACCTTGGATATATTCCATTTTTGTTTTTCAATTATACCTCAACAAAGCTGGACATATTTTAATTTAAAAATAAATAAAAAACTTGTCCAAGATCATAAGTGGCAGAGTTGAAATCTGCACTCACAGAGTTTGATTCCAGGGTCTCCGCTCCTAAACACGAACCTACACTACTCTGATGTGAGGTTGTTGTCATAGACCGGTGTGGTGATGCATGCCTGCACACAGGAGTCAGAAAAACAAAGGTTGAGGCTGGGTGCGGCGGCTCACACCGGTCATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCGCTTGAGCCCAGGAAGGCGAGGCTGCAGTGAGCTATGATCACTGTACACTAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAAAAGACAGAGAGAGAAAGCAAAAGAAAGGAAGTAAGGAAGATAAAAATATAAGCTGCCTAATAATTATGGCATTCACTCAACAAGAAGAAAAAGAAAGAAAGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAATATATAAGCTGCCTGATAACTGTAACATTCACTCAGCAATATTTTCTCTTAATTTTCACTTAAGCAACTATTATGTGTCTGTCTGTATTCTTTTTTTGTTGTTTCATTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGAAACAGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGTTAATTTTGTATGTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGTCCACCTCGGCCTCCCAA
Task1_train_27533
This variant affects gene TNNT1 (troponin T1, slow skeletal type) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; Nemaline myopathy 5B, autosomal recessive, childhood-onset
AAAAAAAAAAGCTGGGCATGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGAGGATCAGCTGAGGTCAGGAGTCTGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGTTGGTGGGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGACAGGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGATGCTGCGGCCGGTGCAGTGATTCACACCTAAAATCCCAACACTTTCAGAGGCTGTTGTGGGAGGATCACTTGAGCCCAGGAATTCAAGGCTGCAGTGAGCCGTGATCACGCCACTGCACTGCAGCCTGGGCGACAGAGCAAGACCCTGTCTCTAAAAATTAAAAATAAAAATGCTACTATGAACATTCATGTACAAGCTTTTGTGTGGACAAAGGTTCTTGGTTCTCTTGGATATACATCCAGGAGGGGAACTGCTGGGTCCTGCAGAAATGCTTTCACTTGTTGAGGAACCGCCAGGCTGCTTGCAAAGCTGTTGCATTTTCCATTCCCACCAGCAGTGTGTGAAGGTTCAGCCTGCCGTACTTTAATGATTATTGGTGACACTCTTTCAAGTAACTTGTTGGTAATAAGAAGTCAATTAACCAGGAGAGACCAGCTGCATCTCAACCATAATAACATCAGAGAACCCAGCGGGTGTCTGAGGGGAGCGTTTATTTCAAGCTACCGATGGGACAAACACTCCCAGGCTTCCCAGGTGCCACTGTCCGGGGCGGCATCCTCACTTCCAGCGGCCTCCAACGCGGCCCTTCCCTGCCCCCTTCCGGCTGTAGAAGAATGAGGTGGTATCAGGAAAAAGGGGCCCCTCCAGTCTCTGAAATGGGCCCCAGGCCCTCAATTCAGGAAGCCCATTCCCCAAAATATTAGCCCTCCCTGCCCAGAGGAAGCAGTGAGCAAAACAACTGTCACCTCTTTTGGGTTCTATGACTGGGGGGCAGCGGCTGGTGGTCAAAGCCTCGCTGACATGTGGGAGCTGATATTTGGGGGCGAGTGCAGGGTGTTCATGGGGGAGCTGATGAATGTTTATGAGTCAGGGGCCAGGGTGGGGGGAGGAAGGGTTGGATGATCTGGGCATGGGTGGGTAACACGCAGGAAGGGCTGGGGTGAAAGAGACAGGAAATGGGAGAAGAGGAGAAGGGAGAGGGAGAGGAGGGAGGAAGGAAGAGGGAGTGGAGAAACAGAGAGATTCAGGGAAGACCCTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCACGCTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGATGGAAGTTGCAGTGAGCTGAGATCACTCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACGCAGTCTCAATAAAAAAAAAAAAAAAGAAAGAAAAAGAAAAAGGAACTGAGACCCAGGATTCCGAGAGCAGAGAGAGGAGGACAGAGAAGGAAGGACAAAGAGAAAGGGGCAGAAACTCAGGCAGTGGGGGATGGAGCCCACAGAGGGAGGGAAAGAGGCCTGAGAGTCAGCGGGAGGGTAGGGACAAGAGCAAGGGCTTGAGACGGTCACACTCACAACTTCTGGGCGTGGCTGATGCGGTTGTACAGCACGTTGATCTGCGGAGGCAGAAGACAGATGCTGGGACAGCCGGTGGGGACGTGGGGACGGGCCACCCACCCCTGCCTGGAGTTTGCTGGTCCCTCCCAGCCCAGCCCTGCCCTCTCTCCCTCCCTCCCTGCGGAGCTGGGTCTCACCTCATATTTCTGCTGTTTCAGCTTCGCCATCAGGTCGAACTTCTCAGACTCCAGCTGGTGGATCCAGTCCGACAGCTCCTGGGCTTTCTCCCTGGCAGGGCAGGAGGGCTGTGATGGAGGCAGCCAGGCAGACCGGGCCCTAGGCCCAGGGACGGAGAGGAACTTGGGCCCAGAGAGGTTGTGGGAACCACCCAAAGCCACACAGCGAGACTGTGAGTTCAGCGTTGTCGGCACCATTTTGTTCATATTTGAGGCCGAGAGTTTTAAAATCTGTGCCCACTTTCTCCACATCCGAGCTGGAGCTCTCGCATTTCCCAAGGGGAGAGAAGGGTGTCATGATTAAGAGACCAGGCTCGGCACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCCAGCAGAACACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAAAGAGAGACCCCGTCTCTGCTAAAAATAATTAAAAAAATTAGCCAGGCAGGGTGTTTCCGGCTACTTGGGAGGCTGAGGCAGAAGGAACCTGGGAGGTCAAAGCTGCAGTGAGCTGTGATTGCACCACTGTATTCCTGCCTGGCAACAGAGCAAGACAAAAGAAAGGAAAGAAAAGGAGAAAGGAAAGTGGGGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGGGAAGAAGAAGGGGAGGGAGGGAGGGGAGGGGAGACGAGGGGAGGGGAGGGGAGGGGAGACGAGGGGAAGGGAGGGGAGGGGAGAGGGGAAAGAAAAGGAAGAAAGAAAAGACCGAGCCCAGGCTCTGCAGTTAGAAGCCCCTGGTTCAATTCCCAGCCATGCCATTCTCTGGTTTATGAATATGTCACATGACTTCCTTTAGAATCCTGTTTCCTTCTCTAGAAAATATGGAAATAAAACTGTGGAAGAGATGGCTGCTTGCCTACCTGTTAGCCCTTCTCCCTTTCTTCTAGAAATAGCCTCTTGTGCATTAGGCTGAGTTGAAAAACTACTTTGCCCAATCTCCCTTGCAGGTAGGGGTGGCTACTCAGACGAAAGCAGGTCACTGGGTGCGGCTTCCAAAAGAGACTGTGTGGCTCTTCTCTTGCGTCTTCTTTCTGCTGCTTGGATCATCCATGTGAGGCTGGAGCTAGCAGCTATATTGGACTAAGTGATTTTGAGGATGGAAATATTGGGCTAAAAGTAGTGAGTGAAGCAGAAAACATAGGAGTCTGGTCTCTGATTTTGTAGAATTGCCATACCAGCCCTGGACTAAAACCTACCTTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTCTTTTCTTTTTTTTTTGATAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGACACCATCACAGCTCACCGCAGTCTCAACCTCTCAGGCTCTAGTGATCCTCTCACCTCAGCCTTTTTTTTTTTTTTTTTTTAAGACAGAGTTTCGCTCATGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACCGCAACCTCCGCCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATATTGGTCAGGCTGGTCTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCGCCCGCCCGGCCAACAATACTTTACATGAACCATGTGCACAGGAAGGAGGGCCCACAGCGCCCCCCAGAGGGCTTCCAGGAGCCTGCTGTGCACATCCTTTCCCGTCTCCACACTCAGTGTCCCCACACGGGTAGTTTGAAAGGAGCAAGGTGGAAGTATTTACGCCCTGGGAATGGGCATGTGCTAAATCTAGACATTTTGCCCCCTGGAGAGCAGCTGTTAAACATTTACCATGAAGCCACTTTACAGCACACTAGCAAAGAGTACGGACTATTGCACCAGACTGCCGGGTTCAAATCCCAGCTCTTCCACTTGCTAGCTGTGCA
AAAAAAAAAAGCTGGGCATGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGAGGATCAGCTGAGGTCAGGAGTCTGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGTTGGTGGGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGACAGGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGATGCTGCGGCCGGTGCAGTGATTCACACCTAAAATCCCAACACTTTCAGAGGCTGTTGTGGGAGGATCACTTGAGCCCAGGAATTCAAGGCTGCAGTGAGCCGTGATCACGCCACTGCACTGCAGCCTGGGCGACAGAGCAAGACCCTGTCTCTAAAAATTAAAAATAAAAATGCTACTATGAACATTCATGTACAAGCTTTTGTGTGGACAAAGGTTCTTGGTTCTCTTGGATATACATCCAGGAGGGGAACTGCTGGGTCCTGCAGAAATGCTTTCACTTGTTGAGGAACCGCCAGGCTGCTTGCAAAGCTGTTGCATTTTCCATTCCCACCAGCAGTGTGTGAAGGTTCAGCCTGCCGTACTTTAATGATTATTGGTGACACTCTTTCAAGTAACTTGTTGGTAATAAGAAGTCAATTAACCAGGAGAGACCAGCTGCATCTCAACCATAATAACATCAGAGAACCCAGCGGGTGTCTGAGGGGAGCGTTTATTTCAAGCTACCGATGGGACAAACACTCCCAGGCTTCCCAGGTGCCACTGTCCGGGGCGGCATCCTCACTTCCAGCGGCCTCCAACGCGGCCCTTCCCTGCCCCCTTCCGGCTGTAGAAGAATGAGGTGGTATCAGGAAAAAGGGGCCCCTCCAGTCTCTGAAATGGGCCCCAGGCCCTCAATTCAGGAAGCCCATTCCCCAAAATATTAGCCCTCCCTGCCCAGAGGAAGCAGTGAGCAAAACAACTGTCACCTCTTTTGGGTTCTATGACTGGGGGGCAGCGGCTGGTGGTCAAAGCCTCGCTGACATGTGGGAGCTGATATTTGGGGGCGAGTGCAGGGTGTTCATGGGGGAGCTGATGAATGTTTATGAGTCAGGGGCCAGGGTGGGGGGAGGAAGGGTTGGATGATCTGGGCATGGGTGGGTAACACGCAGGAAGGGCTGGGGTGAAAGAGACAGGAAATGGGAGAAGAGGAGAAGGGAGAGGGAGAGGAGGGAGGAAGGAAGAGGGAGTGGAGAAACAGAGAGATTCAGGGAAGACCCTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCACGCTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGATGGAAGTTGCAGTGAGCTGAGATCACTCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACGCAGTCTCAATAAAAAAAAAAAAAAAGAAAGAAAAAGAAAAAGGAACTGAGACCCAGGATTCCGAGAGCAGAGAGAGGAGGACAGAGAAGGAAGGACAAAGAGAAAGGGGCAGAAACTCAGGCAGTGGGGGATGGAGCCCACAGAGGGAGGGAAAGAGGCCTGAGAGTCAGCGGGAGGGTAGGGACAAGAGCAAGGGCTTGAGACGGTCACACTCACAACTTCTGGGCGTGGCTGATGCGGTTGTACAGCACGTTGATCTGCGGAGGCAGAAGACAGATGCTGGGACAGCCGGTGGGGACGTGGGGACGGGCCACCCACCCCTGCCTGGAGTTTGCTGGTCCCTCCCAGCCCAGCCCTGCCCTCTCTCCCTCCCTCCCTGCGGAGCTGGGTCTCACCTCATATTTCTGCTGTTTCAGCTTCGGCATCAGGTCGAACTTCTCAGACTCCAGCTGGTGGATCCAGTCCGACAGCTCCTGGGCTTTCTCCCTGGCAGGGCAGGAGGGCTGTGATGGAGGCAGCCAGGCAGACCGGGCCCTAGGCCCAGGGACGGAGAGGAACTTGGGCCCAGAGAGGTTGTGGGAACCACCCAAAGCCACACAGCGAGACTGTGAGTTCAGCGTTGTCGGCACCATTTTGTTCATATTTGAGGCCGAGAGTTTTAAAATCTGTGCCCACTTTCTCCACATCCGAGCTGGAGCTCTCGCATTTCCCAAGGGGAGAGAAGGGTGTCATGATTAAGAGACCAGGCTCGGCACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCCAGCAGAACACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAAAGAGAGACCCCGTCTCTGCTAAAAATAATTAAAAAAATTAGCCAGGCAGGGTGTTTCCGGCTACTTGGGAGGCTGAGGCAGAAGGAACCTGGGAGGTCAAAGCTGCAGTGAGCTGTGATTGCACCACTGTATTCCTGCCTGGCAACAGAGCAAGACAAAAGAAAGGAAAGAAAAGGAGAAAGGAAAGTGGGGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGGGAAGAAGAAGGGGAGGGAGGGAGGGGAGGGGAGACGAGGGGAGGGGAGGGGAGGGGAGACGAGGGGAAGGGAGGGGAGGGGAGAGGGGAAAGAAAAGGAAGAAAGAAAAGACCGAGCCCAGGCTCTGCAGTTAGAAGCCCCTGGTTCAATTCCCAGCCATGCCATTCTCTGGTTTATGAATATGTCACATGACTTCCTTTAGAATCCTGTTTCCTTCTCTAGAAAATATGGAAATAAAACTGTGGAAGAGATGGCTGCTTGCCTACCTGTTAGCCCTTCTCCCTTTCTTCTAGAAATAGCCTCTTGTGCATTAGGCTGAGTTGAAAAACTACTTTGCCCAATCTCCCTTGCAGGTAGGGGTGGCTACTCAGACGAAAGCAGGTCACTGGGTGCGGCTTCCAAAAGAGACTGTGTGGCTCTTCTCTTGCGTCTTCTTTCTGCTGCTTGGATCATCCATGTGAGGCTGGAGCTAGCAGCTATATTGGACTAAGTGATTTTGAGGATGGAAATATTGGGCTAAAAGTAGTGAGTGAAGCAGAAAACATAGGAGTCTGGTCTCTGATTTTGTAGAATTGCCATACCAGCCCTGGACTAAAACCTACCTTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTCTTTTCTTTTTTTTTTGATAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGACACCATCACAGCTCACCGCAGTCTCAACCTCTCAGGCTCTAGTGATCCTCTCACCTCAGCCTTTTTTTTTTTTTTTTTTTAAGACAGAGTTTCGCTCATGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACCGCAACCTCCGCCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATATTGGTCAGGCTGGTCTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCGCCCGCCCGGCCAACAATACTTTACATGAACCATGTGCACAGGAAGGAGGGCCCACAGCGCCCCCCAGAGGGCTTCCAGGAGCCTGCTGTGCACATCCTTTCCCGTCTCCACACTCAGTGTCCCCACACGGGTAGTTTGAAAGGAGCAAGGTGGAAGTATTTACGCCCTGGGAATGGGCATGTGCTAAATCTAGACATTTTGCCCCCTGGAGAGCAGCTGTTAAACATTTACCATGAAGCCACTTTACAGCACACTAGCAAAGAGTACGGACTATTGCACCAGACTGCCGGGTTCAAATCCCAGCTCTTCCACTTGCTAGCTGTGCA
Task1_train_27534
Located on Chromosome 19, this mutation impacts TNNT1 (troponin T1, slow skeletal type). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Nemaline myopathy 5B, autosomal recessive, childhood-onset
CAGCTAATTTTTGTATTTTTAGTACAAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCCACTTGTCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCATCGCGCCTAAACTTAGTTTCCTATCACTGCTGTAATTTGCAAATTTAGTGGCAGAAAAACAATGCAGATTTGTTATCTTACAGCTCTGCAGATCAGACATCTGAAATTGGTCCCCCTGGGCTGGAATCAAGTTGTGAACAGAACCAATTTATTCTGGAGGTTCTAGGGGAGAATTCATTCCCTTCCCTTTTCCAGCTGCTGCCTGCATGTCTGGGCCCATGGACCTTCTTTCATCTTCAGAGGCAGCCATGCAGCATCTTCAAATCTCTCAGTCTGACCCTCTGGCCTTCCTCTTATAAGGACCCTTGTGATGATCTTGCCCTTCCCCACAGGTAATCCAGGACAACCTTCCCATCTCAAGATCTTTAATTTAATCACATCTGCAAAATCCCCTTCACAGCTGGGTGACGGGCAGGTGGCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGGGAACAACGTGGGCAACATAGAAAGACCCTATCTCAAATAAAAAAAAATAATAATAATAGTAATAATGATGACAATGGCCAGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGAACCAACATGGAGAAACCCCATTTCTACTAAAAATACAAAAATTAGCCGAGCCTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATTGCTTGAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAGAAAAAAAAAAAATTAAAATTAAAAAAAAAGGGAAAAGAAGAAAATGGAGAATCCAGGCCGGGCACGATGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGTGAAAGCAGGTGGATTGCTTGAGCTTAGGAGTTGAAGACCAGCCTGGACAACATGGCAAAATGCTGTCTCTACAAAAAATAAAAAAATAAAAAAAACTAGTGGGGCAGAGTGGCGCAGCCTATATAGTTCCAGCGACTCTGGAGGCTGAGGTGGGAAAATCATTTGAGCCCAGGAGGTCCTAGTTATAGTGAGCTAGGATCACACCACTGCACTTCAGCCTGGGTGACAGAGCAAGACCCTATTTCCAAATAAACGAATAAAAAATAATAATAGGCCGGATGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGTGGGCGGATCATGTGGTCAGAAGATCAAGACCATCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAATACAAAATTTAGCCGGGCGTGGTGGTGCGCACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAGATTCGCTTGAACCTGGAAGGCAGAGGTTACAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTTTCAAAGAATAATAATAATAGTAATAATAATAATAATAATAATAATAACAAAATGGGCATCCGGCTGAAGAAGTAACATTTGGGCTCTCAGGGCAGGGGAGGCACCCACCGCCAGCTTAGCCTGACGTTCGCGTTCCTTCTCAGTTCTGAAGCGCTGTTGCTCGGCTCTCTCTGACCGGCGCCGCTCCTGGGAAACGGAGAAGCATAAGGGGGTGCAGGGACGTACCCCCAGTCTTCCTTCCCCAGAGTAGGCTAATAAACAGATTGGAGTGTGGCCACCGACTTGGGTGAATTCGCGAAAGCCTAAGGCTCAGCTCTGTACTAGGAGGAAAACTATTATCTGCATCTCCCAAGATGCAAGGGATCCACATGGAGGGAGGAAGACCGGGGGGAACCCGGACTCTCGGCTCACAATGCGCTCCTTCAAGGCAACCAGCTCCTCTTCCTCCTTCTTCCGCTGCTCGAAATGTACATCGATGAGTGTCTGCAGCTCCAGCAGGTCTTTCTCCATGCGCTTGCGGTGGATGTCCTGCAGGACACACGGGCAGCCCGTCCTAGGAGACCCTGGAGGGGGCAGCAGCCTCCCAGCACCTCCCCCATGCAGGATGGTGAACTGAACCGTTTCCCAGGACGGTATCCAGCAGGTGGCAGCAATGCCTCGTGTTTGACACTAATCAGCTCTTCCAAGGACAGGCTTCCCAAAGACGGGAGTGGGGAGTGGGGACCGGCGCCTTTTTTTTTTTTTTTCCTCCCAGGCTGGAGTGAAATGGCGCGATCTCGGCTCACCGCCACCTCCGCCTCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAACCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGGTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCCCCGCGCCCGGCCGGCGCCTTTTCATGATTGACACAAAGGCCCCTTAAAGACTAGCAACTGCGCCTGCGGAGGGGTCTCTTGTCACTTACATCGAAGTCAACGCGCTCCCCTTCTGGGATCTTTGGCGGGATCAAAGGAGGCACCACGGGGCGGCTGAGTGGACAGAAACACAGAGACCATGAGTGGCCCGACCTCCCTGAGCCACCTCCCACCTCCGGGATGTGCCGTCCAGTGAGGTAGCCGCCAGCCCCGGGAGGCTCCTGAACGTGGAGGGTCCCAGCTGAGGCGGGCTGTCAGTGAAACACACAAAAGAAGGTAAAATACCTCACTACTCATGTTTTTTTGGTTGTTGTTGGTTTTGTTTTGTTTTTTTGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCCACCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCAAGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGACGGGGCTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGCCCGGCACTAATCATGTTTTATACTGATTACATGTTGAAATGATAAAACATTATATAACAGATTAAAAAAACTGTGCTATGAAAATTAATTTTTCCTATATTGTTGTACTTTAAAAAATATGCCTAGTAAGAATTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCGCCATCTCTGCTCACCACAACAACCTCCACCTCCCAGATTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGTTGGGATTACAGGCGCCTGCCACCACGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCCGGCCAAGCTGGTCTTGAACTCCCGACCTCAGGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCCCTGCGCCCAGCCATTTTTAAATTTTTTGTAGAGATGGCGTTTCACAGCCTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGAATCACTTGAGGTCAGGAGTTCAAAACCAGCTTGGGCATCATGGTGAAACCCCATCTCTACTAGAAATTAAAAAAAAAAATTAGCTGGGCATGGTGGTACGTGCCTGTAATCCCTGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGTGACAGAGGGAGACTCTATCTCAAAAAAAAAAAAAAAGAGATGGCGTTTCACTATGTTGTCCAGGGTGGTCTTGAACTTCTGAGCTCAAGTGATCCTCCCGCCTCAGCC
CAGCTAATTTTTGTATTTTTAGTACAAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCCACTTGTCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCATCGCGCCTAAACTTAGTTTCCTATCACTGCTGTAATTTGCAAATTTAGTGGCAGAAAAACAATGCAGATTTGTTATCTTACAGCTCTGCAGATCAGACATCTGAAATTGGTCCCCCTGGGCTGGAATCAAGTTGTGAACAGAACCAATTTATTCTGGAGGTTCTAGGGGAGAATTCATTCCCTTCCCTTTTCCAGCTGCTGCCTGCATGTCTGGGCCCATGGACCTTCTTTCATCTTCAGAGGCAGCCATGCAGCATCTTCAAATCTCTCAGTCTGACCCTCTGGCCTTCCTCTTATAAGGACCCTTGTGATGATCTTGCCCTTCCCCACAGGTAATCCAGGACAACCTTCCCATCTCAAGATCTTTAATTTAATCACATCTGCAAAATCCCCTTCACAGCTGGGTGACGGGCAGGTGGCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGGGAACAACGTGGGCAACATAGAAAGACCCTATCTCAAATAAAAAAAAATAATAATAATAGTAATAATGATGACAATGGCCAGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGAACCAACATGGAGAAACCCCATTTCTACTAAAAATACAAAAATTAGCCGAGCCTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATTGCTTGAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAGAAAAAAAAAAAATTAAAATTAAAAAAAAAGGGAAAAGAAGAAAATGGAGAATCCAGGCCGGGCACGATGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGTGAAAGCAGGTGGATTGCTTGAGCTTAGGAGTTGAAGACCAGCCTGGACAACATGGCAAAATGCTGTCTCTACAAAAAATAAAAAAATAAAAAAAACTAGTGGGGCAGAGTGGCGCAGCCTATATAGTTCCAGCGACTCTGGAGGCTGAGGTGGGAAAATCATTTGAGCCCAGGAGGTCCTAGTTATAGTGAGCTAGGATCACACCACTGCACTTCAGCCTGGGTGACAGAGCAAGACCCTATTTCCAAATAAACGAATAAAAAATAATAATAGGCCGGATGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGTGGGCGGATCATGTGGTCAGAAGATCAAGACCATCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAATACAAAATTTAGCCGGGCGTGGTGGTGCGCACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAGATTCGCTTGAACCTGGAAGGCAGAGGTTACAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTTTCAAAGAATAATAATAATAGTAATAATAATAATAATAATAATAATAACAAAATGGGCATCCGGCTGAAGAAGTAACATTTGGGCTCTCAGGGCAGGGGAGGCACCCACCGCCAGCTTAGCCTGACGTTCGCGTTCCTTCTCAGTTCTGAAGCGCTGTTGCTCGGCTCTCTCTGACCGGCGCCGCTCCTGGGAAACGGAGAAGCATAAGGGGGTGCAGGGACGTACCCCCAGTCTTCCTTCCCCAGAGTAGGCTAATAAACAGATTGGAGTGTGGCCACCGACTTGGGTGAATTCGCGAAAGCCTAAGGCTCAGCTCTGTACTAGGAGGAAAACTATTATCTGCATCTCCCAAGATGCAAGGGATCCACATGGAGGGAGGAAGACCGGGGGGAACCCGGACTCTCGGCTCACAATGCGCTCCTTCAAGGCAACCGGCTCCTCTTCCTCCTTCTTCCGCTGCTCGAAATGTACATCGATGAGTGTCTGCAGCTCCAGCAGGTCTTTCTCCATGCGCTTGCGGTGGATGTCCTGCAGGACACACGGGCAGCCCGTCCTAGGAGACCCTGGAGGGGGCAGCAGCCTCCCAGCACCTCCCCCATGCAGGATGGTGAACTGAACCGTTTCCCAGGACGGTATCCAGCAGGTGGCAGCAATGCCTCGTGTTTGACACTAATCAGCTCTTCCAAGGACAGGCTTCCCAAAGACGGGAGTGGGGAGTGGGGACCGGCGCCTTTTTTTTTTTTTTTCCTCCCAGGCTGGAGTGAAATGGCGCGATCTCGGCTCACCGCCACCTCCGCCTCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAACCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGGTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCCCCGCGCCCGGCCGGCGCCTTTTCATGATTGACACAAAGGCCCCTTAAAGACTAGCAACTGCGCCTGCGGAGGGGTCTCTTGTCACTTACATCGAAGTCAACGCGCTCCCCTTCTGGGATCTTTGGCGGGATCAAAGGAGGCACCACGGGGCGGCTGAGTGGACAGAAACACAGAGACCATGAGTGGCCCGACCTCCCTGAGCCACCTCCCACCTCCGGGATGTGCCGTCCAGTGAGGTAGCCGCCAGCCCCGGGAGGCTCCTGAACGTGGAGGGTCCCAGCTGAGGCGGGCTGTCAGTGAAACACACAAAAGAAGGTAAAATACCTCACTACTCATGTTTTTTTGGTTGTTGTTGGTTTTGTTTTGTTTTTTTGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCCACCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCAAGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGACGGGGCTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGCCCGGCACTAATCATGTTTTATACTGATTACATGTTGAAATGATAAAACATTATATAACAGATTAAAAAAACTGTGCTATGAAAATTAATTTTTCCTATATTGTTGTACTTTAAAAAATATGCCTAGTAAGAATTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCGCCATCTCTGCTCACCACAACAACCTCCACCTCCCAGATTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGTTGGGATTACAGGCGCCTGCCACCACGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCCGGCCAAGCTGGTCTTGAACTCCCGACCTCAGGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCCCTGCGCCCAGCCATTTTTAAATTTTTTGTAGAGATGGCGTTTCACAGCCTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGAATCACTTGAGGTCAGGAGTTCAAAACCAGCTTGGGCATCATGGTGAAACCCCATCTCTACTAGAAATTAAAAAAAAAAATTAGCTGGGCATGGTGGTACGTGCCTGTAATCCCTGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGTGACAGAGGGAGACTCTATCTCAAAAAAAAAAAAAAAGAGATGGCGTTTCACTATGTTGTCCAGGGTGGTCTTGAACTTCTGAGCTCAAGTGATCCTCCCGCCTCAGCC
Task1_train_27535
Here is a genetic alteration in TNNT1 (troponin T1, slow skeletal type) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; TNNT1-related disorder
CAGCTAATTTTTGTATTTTTAGTACAAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCCACTTGTCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCATCGCGCCTAAACTTAGTTTCCTATCACTGCTGTAATTTGCAAATTTAGTGGCAGAAAAACAATGCAGATTTGTTATCTTACAGCTCTGCAGATCAGACATCTGAAATTGGTCCCCCTGGGCTGGAATCAAGTTGTGAACAGAACCAATTTATTCTGGAGGTTCTAGGGGAGAATTCATTCCCTTCCCTTTTCCAGCTGCTGCCTGCATGTCTGGGCCCATGGACCTTCTTTCATCTTCAGAGGCAGCCATGCAGCATCTTCAAATCTCTCAGTCTGACCCTCTGGCCTTCCTCTTATAAGGACCCTTGTGATGATCTTGCCCTTCCCCACAGGTAATCCAGGACAACCTTCCCATCTCAAGATCTTTAATTTAATCACATCTGCAAAATCCCCTTCACAGCTGGGTGACGGGCAGGTGGCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGGGAACAACGTGGGCAACATAGAAAGACCCTATCTCAAATAAAAAAAAATAATAATAATAGTAATAATGATGACAATGGCCAGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGAACCAACATGGAGAAACCCCATTTCTACTAAAAATACAAAAATTAGCCGAGCCTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATTGCTTGAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAGAAAAAAAAAAAATTAAAATTAAAAAAAAAGGGAAAAGAAGAAAATGGAGAATCCAGGCCGGGCACGATGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGTGAAAGCAGGTGGATTGCTTGAGCTTAGGAGTTGAAGACCAGCCTGGACAACATGGCAAAATGCTGTCTCTACAAAAAATAAAAAAATAAAAAAAACTAGTGGGGCAGAGTGGCGCAGCCTATATAGTTCCAGCGACTCTGGAGGCTGAGGTGGGAAAATCATTTGAGCCCAGGAGGTCCTAGTTATAGTGAGCTAGGATCACACCACTGCACTTCAGCCTGGGTGACAGAGCAAGACCCTATTTCCAAATAAACGAATAAAAAATAATAATAGGCCGGATGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGTGGGCGGATCATGTGGTCAGAAGATCAAGACCATCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAATACAAAATTTAGCCGGGCGTGGTGGTGCGCACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAGATTCGCTTGAACCTGGAAGGCAGAGGTTACAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTTTCAAAGAATAATAATAATAGTAATAATAATAATAATAATAATAATAACAAAATGGGCATCCGGCTGAAGAAGTAACATTTGGGCTCTCAGGGCAGGGGAGGCACCCACCGCCAGCTTAGCCTGACGTTCGCGTTCCTTCTCAGTTCTGAAGCGCTGTTGCTCGGCTCTCTCTGACCGGCGCCGCTCCTGGGAAACGGAGAAGCATAAGGGGGTGCAGGGACGTACCCCCAGTCTTCCTTCCCCAGAGTAGGCTAATAAACAGATTGGAGTGTGGCCACCGACTTGGGTGAATTCGCGAAAGCCTAAGGCTCAGCTCTGTACTAGGAGGAAAACTATTATCTGCATCTCCCAAGATGCAAGGGATCCACATGGAGGGAGGAAGACCGGGGGGAACCCGGACTCTCGGCTCACAATGCGCTCCTTCAAGGCAACCAGCTCCTCTTCCTCCTTCTTCCGCTGCTCGAAATGTACATCGATGAGTGTCTGCAGCTCCAGCAGGTCTTTCTCCATGCGCTTGCGGTGGATGTCCTGCAGGACACACGGGCAGCCCGTCCTAGGAGACCCTGGAGGGGGCAGCAGCCTCCCAGCACCTCCCCCATGCAGGATGGTGAACTGAACCGTTTCCCAGGACGGTATCCAGCAGGTGGCAGCAATGCCTCGTGTTTGACACTAATCAGCTCTTCCAAGGACAGGCTTCCCAAAGACGGGAGTGGGGAGTGGGGACCGGCGCCTTTTTTTTTTTTTTTCCTCCCAGGCTGGAGTGAAATGGCGCGATCTCGGCTCACCGCCACCTCCGCCTCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAACCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGGTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCCCCGCGCCCGGCCGGCGCCTTTTCATGATTGACACAAAGGCCCCTTAAAGACTAGCAACTGCGCCTGCGGAGGGGTCTCTTGTCACTTACATCGAAGTCAACGCGCTCCCCTTCTGGGATCTTTGGCGGGATCAAAGGAGGCACCACGGGGCGGCTGAGTGGACAGAAACACAGAGACCATGAGTGGCCCGACCTCCCTGAGCCACCTCCCACCTCCGGGATGTGCCGTCCAGTGAGGTAGCCGCCAGCCCCGGGAGGCTCCTGAACGTGGAGGGTCCCAGCTGAGGCGGGCTGTCAGTGAAACACACAAAAGAAGGTAAAATACCTCACTACTCATGTTTTTTTGGTTGTTGTTGGTTTTGTTTTGTTTTTTTGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCCACCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCAAGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGACGGGGCTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGCCCGGCACTAATCATGTTTTATACTGATTACATGTTGAAATGATAAAACATTATATAACAGATTAAAAAAACTGTGCTATGAAAATTAATTTTTCCTATATTGTTGTACTTTAAAAAATATGCCTAGTAAGAATTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCGCCATCTCTGCTCACCACAACAACCTCCACCTCCCAGATTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGTTGGGATTACAGGCGCCTGCCACCACGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCCGGCCAAGCTGGTCTTGAACTCCCGACCTCAGGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCCCTGCGCCCAGCCATTTTTAAATTTTTTGTAGAGATGGCGTTTCACAGCCTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGAATCACTTGAGGTCAGGAGTTCAAAACCAGCTTGGGCATCATGGTGAAACCCCATCTCTACTAGAAATTAAAAAAAAAAATTAGCTGGGCATGGTGGTACGTGCCTGTAATCCCTGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGTGACAGAGGGAGACTCTATCTCAAAAAAAAAAAAAAAGAGATGGCGTTTCACTATGTTGTCCAGGGTGGTCTTGAACTTCTGAGCTCAAGTGATCCTCCCGCCTCAGCC
CAGCTAATTTTTGTATTTTTAGTACAAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCCACTTGTCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCATCGCGCCTAAACTTAGTTTCCTATCACTGCTGTAATTTGCAAATTTAGTGGCAGAAAAACAATGCAGATTTGTTATCTTACAGCTCTGCAGATCAGACATCTGAAATTGGTCCCCCTGGGCTGGAATCAAGTTGTGAACAGAACCAATTTATTCTGGAGGTTCTAGGGGAGAATTCATTCCCTTCCCTTTTCCAGCTGCTGCCTGCATGTCTGGGCCCATGGACCTTCTTTCATCTTCAGAGGCAGCCATGCAGCATCTTCAAATCTCTCAGTCTGACCCTCTGGCCTTCCTCTTATAAGGACCCTTGTGATGATCTTGCCCTTCCCCACAGGTAATCCAGGACAACCTTCCCATCTCAAGATCTTTAATTTAATCACATCTGCAAAATCCCCTTCACAGCTGGGTGACGGGCAGGTGGCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGGGAACAACGTGGGCAACATAGAAAGACCCTATCTCAAATAAAAAAAAATAATAATAATAGTAATAATGATGACAATGGCCAGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGAACCAACATGGAGAAACCCCATTTCTACTAAAAATACAAAAATTAGCCGAGCCTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATTGCTTGAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAGAAAAAAAAAAAATTAAAATTAAAAAAAAAGGGAAAAGAAGAAAATGGAGAATCCAGGCCGGGCACGATGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGTGAAAGCAGGTGGATTGCTTGAGCTTAGGAGTTGAAGACCAGCCTGGACAACATGGCAAAATGCTGTCTCTACAAAAAATAAAAAAATAAAAAAAACTAGTGGGGCAGAGTGGCGCAGCCTATATAGTTCCAGCGACTCTGGAGGCTGAGGTGGGAAAATCATTTGAGCCCAGGAGGTCCTAGTTATAGTGAGCTAGGATCACACCACTGCACTTCAGCCTGGGTGACAGAGCAAGACCCTATTTCCAAATAAACGAATAAAAAATAATAATAGGCCGGATGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGTGGGCGGATCATGTGGTCAGAAGATCAAGACCATCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAATACAAAATTTAGCCGGGCGTGGTGGTGCGCACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAGATTCGCTTGAACCTGGAAGGCAGAGGTTACAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTTTCAAAGAATAATAATAATAGTAATAATAATAATAATAATAATAATAACAAAATGGGCATCCGGCTGAAGAAGTAACATTTGGGCTCTCAGGGCAGGGGAGGCACCCACCGCCAGCTTAGCCTGACGTTCGCGTTCCTTCTCAGTTCTGAAGCGCTGTTGCTCGGCTCTCTCTGACCGGCGCCGCTCCTGGGAAACGGAGAAGCATAAGGGGGTGCAGGGACGTACCCCCAGTCTTCCTTCCCCAGAGTAGGCTAATAAACAGATTGGAGTGTGGCCACCGACTTGGGTGAATTCGCGAAAGCCTAAGGCTCAGCTCTGTACTAGGAGGAAAACTATTATCTGCATCTCCCAAGATGCAAGGGATCCACATGGAGGGAGGAAGACCGGGGGGAACCCGGACTCTCGGCTCACAATGCGCTCCTTCAAGGCAACCGGCTCCTCTTCCTCCTTCTTCCGCTGCTCGAAATGTACATCGATGAGTGTCTGCAGCTCCAGCAGGTCTTTCTCCATGCGCTTGCGGTGGATGTCCTGCAGGACACACGGGCAGCCCGTCCTAGGAGACCCTGGAGGGGGCAGCAGCCTCCCAGCACCTCCCCCATGCAGGATGGTGAACTGAACCGTTTCCCAGGACGGTATCCAGCAGGTGGCAGCAATGCCTCGTGTTTGACACTAATCAGCTCTTCCAAGGACAGGCTTCCCAAAGACGGGAGTGGGGAGTGGGGACCGGCGCCTTTTTTTTTTTTTTTCCTCCCAGGCTGGAGTGAAATGGCGCGATCTCGGCTCACCGCCACCTCCGCCTCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAACCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGGTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCCCCGCGCCCGGCCGGCGCCTTTTCATGATTGACACAAAGGCCCCTTAAAGACTAGCAACTGCGCCTGCGGAGGGGTCTCTTGTCACTTACATCGAAGTCAACGCGCTCCCCTTCTGGGATCTTTGGCGGGATCAAAGGAGGCACCACGGGGCGGCTGAGTGGACAGAAACACAGAGACCATGAGTGGCCCGACCTCCCTGAGCCACCTCCCACCTCCGGGATGTGCCGTCCAGTGAGGTAGCCGCCAGCCCCGGGAGGCTCCTGAACGTGGAGGGTCCCAGCTGAGGCGGGCTGTCAGTGAAACACACAAAAGAAGGTAAAATACCTCACTACTCATGTTTTTTTGGTTGTTGTTGGTTTTGTTTTGTTTTTTTGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCCACCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCAAGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGACGGGGCTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGCCCGGCACTAATCATGTTTTATACTGATTACATGTTGAAATGATAAAACATTATATAACAGATTAAAAAAACTGTGCTATGAAAATTAATTTTTCCTATATTGTTGTACTTTAAAAAATATGCCTAGTAAGAATTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCGCCATCTCTGCTCACCACAACAACCTCCACCTCCCAGATTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGTTGGGATTACAGGCGCCTGCCACCACGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCCGGCCAAGCTGGTCTTGAACTCCCGACCTCAGGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCCCTGCGCCCAGCCATTTTTAAATTTTTTGTAGAGATGGCGTTTCACAGCCTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGAATCACTTGAGGTCAGGAGTTCAAAACCAGCTTGGGCATCATGGTGAAACCCCATCTCTACTAGAAATTAAAAAAAAAAATTAGCTGGGCATGGTGGTACGTGCCTGTAATCCCTGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGTGACAGAGGGAGACTCTATCTCAAAAAAAAAAAAAAAGAGATGGCGTTTCACTATGTTGTCCAGGGTGGTCTTGAACTTCTGAGCTCAAGTGATCCTCCCGCCTCAGCC
Task1_train_27536
This gene mutation involves LOC130065089, TNNT1 (ATAC-STARR-seq lymphoblastoid active region 15077| troponin T1, slow skeletal type) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; Nemaline myopathy 5C, autosomal dominant
GTCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCATCGCGCCTAAACTTAGTTTCCTATCACTGCTGTAATTTGCAAATTTAGTGGCAGAAAAACAATGCAGATTTGTTATCTTACAGCTCTGCAGATCAGACATCTGAAATTGGTCCCCCTGGGCTGGAATCAAGTTGTGAACAGAACCAATTTATTCTGGAGGTTCTAGGGGAGAATTCATTCCCTTCCCTTTTCCAGCTGCTGCCTGCATGTCTGGGCCCATGGACCTTCTTTCATCTTCAGAGGCAGCCATGCAGCATCTTCAAATCTCTCAGTCTGACCCTCTGGCCTTCCTCTTATAAGGACCCTTGTGATGATCTTGCCCTTCCCCACAGGTAATCCAGGACAACCTTCCCATCTCAAGATCTTTAATTTAATCACATCTGCAAAATCCCCTTCACAGCTGGGTGACGGGCAGGTGGCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGGGAACAACGTGGGCAACATAGAAAGACCCTATCTCAAATAAAAAAAAATAATAATAATAGTAATAATGATGACAATGGCCAGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGAACCAACATGGAGAAACCCCATTTCTACTAAAAATACAAAAATTAGCCGAGCCTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATTGCTTGAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAGAAAAAAAAAAAATTAAAATTAAAAAAAAAGGGAAAAGAAGAAAATGGAGAATCCAGGCCGGGCACGATGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGTGAAAGCAGGTGGATTGCTTGAGCTTAGGAGTTGAAGACCAGCCTGGACAACATGGCAAAATGCTGTCTCTACAAAAAATAAAAAAATAAAAAAAACTAGTGGGGCAGAGTGGCGCAGCCTATATAGTTCCAGCGACTCTGGAGGCTGAGGTGGGAAAATCATTTGAGCCCAGGAGGTCCTAGTTATAGTGAGCTAGGATCACACCACTGCACTTCAGCCTGGGTGACAGAGCAAGACCCTATTTCCAAATAAACGAATAAAAAATAATAATAGGCCGGATGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGTGGGCGGATCATGTGGTCAGAAGATCAAGACCATCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAATACAAAATTTAGCCGGGCGTGGTGGTGCGCACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAGATTCGCTTGAACCTGGAAGGCAGAGGTTACAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTTTCAAAGAATAATAATAATAGTAATAATAATAATAATAATAATAATAACAAAATGGGCATCCGGCTGAAGAAGTAACATTTGGGCTCTCAGGGCAGGGGAGGCACCCACCGCCAGCTTAGCCTGACGTTCGCGTTCCTTCTCAGTTCTGAAGCGCTGTTGCTCGGCTCTCTCTGACCGGCGCCGCTCCTGGGAAACGGAGAAGCATAAGGGGGTGCAGGGACGTACCCCCAGTCTTCCTTCCCCAGAGTAGGCTAATAAACAGATTGGAGTGTGGCCACCGACTTGGGTGAATTCGCGAAAGCCTAAGGCTCAGCTCTGTACTAGGAGGAAAACTATTATCTGCATCTCCCAAGATGCAAGGGATCCACATGGAGGGAGGAAGACCGGGGGGAACCCGGACTCTCGGCTCACAATGCGCTCCTTCAAGGCAACCAGCTCCTCTTCCTCCTTCTTCCGCTGCTCGAAATGTACATCGATGAGTGTCTGCAGCTCCAGCAGGTCTTTCTCCATGCGCTTGCGGTGGATGTCCTGCAGGACACACGGGCAGCCCGTCCTAGGAGACCCTGGAGGGGGCAGCAGCCTCCCAGCACCTCCCCCATGCAGGATGGTGAACTGAACCGTTTCCCAGGACGGTATCCAGCAGGTGGCAGCAATGCCTCGTGTTTGACACTAATCAGCTCTTCCAAGGACAGGCTTCCCAAAGACGGGAGTGGGGAGTGGGGACCGGCGCCTTTTTTTTTTTTTTTCCTCCCAGGCTGGAGTGAAATGGCGCGATCTCGGCTCACCGCCACCTCCGCCTCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAACCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGGTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCCCCGCGCCCGGCCGGCGCCTTTTCATGATTGACACAAAGGCCCCTTAAAGACTAGCAACTGCGCCTGCGGAGGGGTCTCTTGTCACTTACATCGAAGTCAACGCGCTCCCCTTCTGGGATCTTTGGCGGGATCAAAGGAGGCACCACGGGGCGGCTGAGTGGACAGAAACACAGAGACCATGAGTGGCCCGACCTCCCTGAGCCACCTCCCACCTCCGGGATGTGCCGTCCAGTGAGGTAGCCGCCAGCCCCGGGAGGCTCCTGAACGTGGAGGGTCCCAGCTGAGGCGGGCTGTCAGTGAAACACACAAAAGAAGGTAAAATACCTCACTACTCATGTTTTTTTGGTTGTTGTTGGTTTTGTTTTGTTTTTTTGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCCACCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCAAGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGACGGGGCTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGCCCGGCACTAATCATGTTTTATACTGATTACATGTTGAAATGATAAAACATTATATAACAGATTAAAAAAACTGTGCTATGAAAATTAATTTTTCCTATATTGTTGTACTTTAAAAAATATGCCTAGTAAGAATTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCGCCATCTCTGCTCACCACAACAACCTCCACCTCCCAGATTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGTTGGGATTACAGGCGCCTGCCACCACGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCCGGCCAAGCTGGTCTTGAACTCCCGACCTCAGGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCCCTGCGCCCAGCCATTTTTAAATTTTTTGTAGAGATGGCGTTTCACAGCCTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGAATCACTTGAGGTCAGGAGTTCAAAACCAGCTTGGGCATCATGGTGAAACCCCATCTCTACTAGAAATTAAAAAAAAAAATTAGCTGGGCATGGTGGTACGTGCCTGTAATCCCTGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGTGACAGAGGGAGACTCTATCTCAAAAAAAAAAAAAAAGAGATGGCGTTTCACTATGTTGTCCAGGGTGGTCTTGAACTTCTGAGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAGAGTGCTGGGACTATAGGCGTGAGCCACTGCGCCCAGCCTTTAGTAAGAAATTGTAAGTGACGTGTGTGGCTTGCCATCTATTTCTAT
GTCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCATCGCGCCTAAACTTAGTTTCCTATCACTGCTGTAATTTGCAAATTTAGTGGCAGAAAAACAATGCAGATTTGTTATCTTACAGCTCTGCAGATCAGACATCTGAAATTGGTCCCCCTGGGCTGGAATCAAGTTGTGAACAGAACCAATTTATTCTGGAGGTTCTAGGGGAGAATTCATTCCCTTCCCTTTTCCAGCTGCTGCCTGCATGTCTGGGCCCATGGACCTTCTTTCATCTTCAGAGGCAGCCATGCAGCATCTTCAAATCTCTCAGTCTGACCCTCTGGCCTTCCTCTTATAAGGACCCTTGTGATGATCTTGCCCTTCCCCACAGGTAATCCAGGACAACCTTCCCATCTCAAGATCTTTAATTTAATCACATCTGCAAAATCCCCTTCACAGCTGGGTGACGGGCAGGTGGCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGGGAACAACGTGGGCAACATAGAAAGACCCTATCTCAAATAAAAAAAAATAATAATAATAGTAATAATGATGACAATGGCCAGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGGGGTGAATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGAACCAACATGGAGAAACCCCATTTCTACTAAAAATACAAAAATTAGCCGAGCCTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATTGCTTGAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAGAAAAAAAAAAAATTAAAATTAAAAAAAAAGGGAAAAGAAGAAAATGGAGAATCCAGGCCGGGCACGATGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGTGAAAGCAGGTGGATTGCTTGAGCTTAGGAGTTGAAGACCAGCCTGGACAACATGGCAAAATGCTGTCTCTACAAAAAATAAAAAAATAAAAAAAACTAGTGGGGCAGAGTGGCGCAGCCTATATAGTTCCAGCGACTCTGGAGGCTGAGGTGGGAAAATCATTTGAGCCCAGGAGGTCCTAGTTATAGTGAGCTAGGATCACACCACTGCACTTCAGCCTGGGTGACAGAGCAAGACCCTATTTCCAAATAAACGAATAAAAAATAATAATAGGCCGGATGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGTGGGCGGATCATGTGGTCAGAAGATCAAGACCATCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAATACAAAATTTAGCCGGGCGTGGTGGTGCGCACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAGATTCGCTTGAACCTGGAAGGCAGAGGTTACAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTTTCAAAGAATAATAATAATAGTAATAATAATAATAATAATAATAATAACAAAATGGGCATCCGGCTGAAGAAGTAACATTTGGGCTCTCAGGGCAGGGGAGGCACCCACCGCCAGCTTAGCCTGACGTTCGCGTTCCTTCTCAGTTCTGAAGCGCTGTTGCTCGGCTCTCTCTGACCGGCGCCGCTCCTGGGAAACGGAGAAGCATAAGGGGGTGCAGGGACGTACCCCCAGTCTTCCTTCCCCAGAGTAGGCTAATAAACAGATTGGAGTGTGGCCACCGACTTGGGTGAATTCGCGAAAGCCTAAGGCTCAGCTCTGTACTAGGAGGAAAACTATTATCTGCATCTCCCAAGATGCAAGGGATCCACATGGAGGGAGGAAGACCGGGGGGAACCCGGACTCTCGGCTCACAATGCGCTCCTTCAAGGCAACCAGCTCCTCTTCCTCCTTCTTCCGCTGCTCGAAATGTACATCGATGAGTGTCTGCAGCTCCAGCAGGTCTTTCTCCATGCGCTTGCGGTGGATGGCCTGCAGGACACACGGGCAGCCCGTCCTAGGAGACCCTGGAGGGGGCAGCAGCCTCCCAGCACCTCCCCCATGCAGGATGGTGAACTGAACCGTTTCCCAGGACGGTATCCAGCAGGTGGCAGCAATGCCTCGTGTTTGACACTAATCAGCTCTTCCAAGGACAGGCTTCCCAAAGACGGGAGTGGGGAGTGGGGACCGGCGCCTTTTTTTTTTTTTTTCCTCCCAGGCTGGAGTGAAATGGCGCGATCTCGGCTCACCGCCACCTCCGCCTCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAACCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGGTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCCCCGCGCCCGGCCGGCGCCTTTTCATGATTGACACAAAGGCCCCTTAAAGACTAGCAACTGCGCCTGCGGAGGGGTCTCTTGTCACTTACATCGAAGTCAACGCGCTCCCCTTCTGGGATCTTTGGCGGGATCAAAGGAGGCACCACGGGGCGGCTGAGTGGACAGAAACACAGAGACCATGAGTGGCCCGACCTCCCTGAGCCACCTCCCACCTCCGGGATGTGCCGTCCAGTGAGGTAGCCGCCAGCCCCGGGAGGCTCCTGAACGTGGAGGGTCCCAGCTGAGGCGGGCTGTCAGTGAAACACACAAAAGAAGGTAAAATACCTCACTACTCATGTTTTTTTGGTTGTTGTTGGTTTTGTTTTGTTTTTTTGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGGTGGCGCCACCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCAAGCCTGGCTAATTTTTCTGTATTTTTAGTAGAGACGGGGCTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGCCCGGCACTAATCATGTTTTATACTGATTACATGTTGAAATGATAAAACATTATATAACAGATTAAAAAAACTGTGCTATGAAAATTAATTTTTCCTATATTGTTGTACTTTAAAAAATATGCCTAGTAAGAATTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCGCCATCTCTGCTCACCACAACAACCTCCACCTCCCAGATTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGTTGGGATTACAGGCGCCTGCCACCACGCCTGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCCGGCCAAGCTGGTCTTGAACTCCCGACCTCAGGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCCCTGCGCCCAGCCATTTTTAAATTTTTTGTAGAGATGGCGTTTCACAGCCTGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGAATCACTTGAGGTCAGGAGTTCAAAACCAGCTTGGGCATCATGGTGAAACCCCATCTCTACTAGAAATTAAAAAAAAAAATTAGCTGGGCATGGTGGTACGTGCCTGTAATCCCTGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGTGACAGAGGGAGACTCTATCTCAAAAAAAAAAAAAAAGAGATGGCGTTTCACTATGTTGTCCAGGGTGGTCTTGAACTTCTGAGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAGAGTGCTGGGACTATAGGCGTGAGCCACTGCGCCCAGCCTTTAGTAAGAAATTGTAAGTGACGTGTGTGGCTTGCCATCTATTTCTAT
Task1_train_27537
The gene TNNI3 (troponin I3, cardiac type) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; not provided
GGGGGAGGGTGGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTT
GGGGGAGGGTGGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTATCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTT
Task1_train_27538
Here is a genetic alteration in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
GGGGAGGGTGGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTG
GGGGAGGGTGGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTCCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTG
Task1_train_27539
This gene mutation involves TNNI3 (troponin I3, cardiac type) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; Hypertrophic cardiomyopathy 7
GGGGAGGGTGGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTG
GGGGAGGGTGGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTGCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTG
Task1_train_27540
Here is a genetic alteration in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Hypertrophic cardiomyopathy 7
GGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGA
GGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCTCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGA
Task1_train_27541
A variant has been detected on Chromosome 19 in TNNI3 (troponin I3, cardiac type). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Restrictive cardiomyopathy
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGTGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
Task1_train_27542
This gene mutation involves TNNI3 (troponin I3, cardiac type) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; Hypertrophic cardiomyopathy
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGTGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
Task1_train_27543
A change on Chromosome 19 affects gene TNNI3 (troponin I3, cardiac type). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Cardiovascular phenotype
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGTGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
Task1_train_27544
Mutation context: Chromosome 19, Gene TNNI3 (troponin I3, cardiac type). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Dilated cardiomyopathy 2A
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGTGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
Task1_train_27545
This sequence variant lies in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Cardiomyopathy, familial restrictive, 1
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGTGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
Task1_train_27546
This variant lies on Chromosome 19 and affects the gene TNNI3 (troponin I3, cardiac type). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Hypertrophic cardiomyopathy
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGTGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
Task1_train_27547
This variant lies on Chromosome 19 and affects the gene TNNI3 (troponin I3, cardiac type). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; SUDDEN INFANT DEATH SYNDROME
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGTGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
Task1_train_27548
Here is a variant affecting TNNI3 (troponin I3, cardiac type) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Restrictive cardiomyopathy
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGTGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACT
Task1_train_27549
The gene TNNI3 (troponin I3, cardiac type) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Cardiomyopathy, familial restrictive, 1
CCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGC
CCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGCCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGC
Task1_train_27550
The gene TNNI3 (troponin I3, cardiac type) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Hypertrophic cardiomyopathy 7
CCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGC
CCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGCCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGC
Task1_train_27551
Given this context: Chromosome 19, gene TNNI3 (troponin I3, cardiac type) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Dilated cardiomyopathy 1FF
TGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGGTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCA
TGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACAGTCTCTCTGTGCATTTCTGTCCACCTATGACCCCATTTCTGTCTCTTTTTGGCTCTGGGTCTCTGTGTCTGTGTTCACGTCTCTATCTTTCTAGTTCTCTCCATGTCTCTCTTAGTGCCCGCAGTTCCCCCTCTGTGGCTCTCCATTTCCATCTCTTATAGGGTCTCCATGTCTCTGCACCTTGCTGTGAGTATATCTCTGTCTCTCTTTTCTCCTTTCTTTGCACTTCCTTCTATGCATCTTGTGGTATTTTCTCCCTCTCTCTTTGGGTCTTTGCCTGGCTCCTACTCTCTCTACTCCCAACTCAGTCTCTCTGTTGTCGGTCATGTCTCTCTGCCTGTCTGTTTCTCTGTGTCTCTCTCTCTTTGACCTTTAGTCTTGGCATCTCTGTGCACTCCACATGGGCCAGAGGAGCTGTGACAATAGAGATCAGAAGACTGATGGAATGAACTGTTTGTGGCAATAAGATACCAAATTATAAACAAGACCTAAGGCCATGCCAGGCAAGGGTTAAGCCACGCATCCCTACACTTATATAATCGACTATGTTCCAACTGCCACAAGGCTTTTCCTTTTTCTAGCAGCTAAACAAGCACCGGCCTCAAGATAAGCAATATTACAACCATTGCAGCCATCCATTGCCAGATGCTGACTAGCTGAACCCCCTGTTCCACAAGGCATAACTACAGCATTAGTTGAACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGATGCCGCAGACCACGGACTGGTTCTGGCTGTTGACAGAGGCTGTGCACTGAGTGTCTTCATATCCCTGCTTCGTGTTTCGATACGAATGCATTCAATGGAATGCACTTAAATGTTAAGCCTCCACCACCAAGTGAAGGTGGGATGCATGTAAAATGTGTTTGCGGCCAGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACGAAAAACACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGACGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATGAGTGTTTGCTTGTCACACATGCGTGTGTCCATGTGTCCACCTGTCCATGAATATTCATAGCTCCTTCTATAACCAGTTGAATACGTGCACTTAGCTAACCCACTCAGCATAAATTCCTGCCTTGCCCTTCCCTCCCTTAAAGTGCCTGCTTTTGTTTTTTGGCAAGAAGCCATGCTTCTGGTCTTCAGGTTGTGATCCGCTTCTTAAGAAACAAAGCTCCGCTCTCCAAATTCATGAACCCCGGGATTCTTTTCAATAACACAGCCAAGAGTGCTTCACATGGGAGACCCATCTGGTCCCCAACCTGCTGTGTGGCTTTGGGGGAGCCCCACCTGCAGTCTTCCCATCTGTCTCCTGCCTAAGCCCTGGGTAATAGACATGGAGTCACTTTCAGCTCAGAGAGAAGCTTTATTCCTCAGGGCCCTCCTCAGGGCAGGGGCAGTAGGCAGGAAGGCTCAGCTCTCAAACTTTTTCTTGCGGCCCTCCATTCCACTCAGTGCATCGATGTTCTTGCGCCAGTCTCCCACCTCCCGCTTTTCCTGGAGGATGGCGATGAGTCAGAGGTTAGGGTCTCTTCTTGGTCTCCAGTCTCTCAAGAATCCCTGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCA
Task1_train_27552
A variant on Chromosome 19 in gene TNNI3 (troponin I3, cardiac type) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Hypertrophic cardiomyopathy
TGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCA
TGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACATTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCA
Task1_train_27553
This mutation occurs in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; not provided
GTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCAC
GTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCGTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCAC
Task1_train_27554
Here is a mutation in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; not provided
TCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACG
TCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTCCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACG
Task1_train_27555
A variant found in Chromosome 19 affects TNNI3 (troponin I3, cardiac type). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Hypertrophic cardiomyopathy 7
GTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTG
GTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTCCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTG
Task1_train_27556
A variant has been detected on Chromosome 19 in TNNI3 (troponin I3, cardiac type). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Restrictive cardiomyopathy
TCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACA
TCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGGTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACA
Task1_train_27557
A variant has been detected on Chromosome 19 in TNNI3 (troponin I3, cardiac type). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Hypertrophic cardiomyopathy
CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACG
CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCGGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACG
Task1_train_27558
A variant was discovered in gene TNNI3 (troponin I3, cardiac type), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Hypertrophic cardiomyopathy
CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACG
CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCTGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACG
Task1_train_27559
A change on Chromosome 19 affects gene TNNI3 (troponin I3, cardiac type). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Restrictive cardiomyopathy
CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACG
CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCTGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACG
Task1_train_27560
A mutation in TNNI3 (troponin I3, cardiac type), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Hypertrophic cardiomyopathy
CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACG
CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCTGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACG
Task1_train_27561
Gene TNNI3 (troponin I3, cardiac type), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Cardiovascular phenotype
CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACG
CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCTGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACG
Task1_train_27562
A mutation found in TNNI3 (troponin I3, cardiac type) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Cardiomyopathy
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCACAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27563
This genomic variant is located on Chromosome 19, within the TNNI3 (troponin I3, cardiac type) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; SUDDEN INFANT DEATH SYNDROME
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCACAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27564
A mutation found in TNNI3 (troponin I3, cardiac type) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Hypertrophic cardiomyopathy
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCACAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27565
This variant lies on Chromosome 19 and affects the gene TNNI3 (troponin I3, cardiac type). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Hypertrophic cardiomyopathy
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCACAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27566
This variant impacts the gene TNNI3 (troponin I3, cardiac type) on Chromosome 19. Is the change likely to result in a pathogenic outcome?
Pathogenic; Restrictive cardiomyopathy
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCACAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27567
This variant affects the gene TNNI3 (troponin I3, cardiac type) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Hypertrophic cardiomyopathy 7
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCACAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27568
This genomic variant is located on Chromosome 19, within the TNNI3 (troponin I3, cardiac type) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Cardiomyopathy, familial restrictive, 1
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCACAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27569
Here is a variant affecting TNNI3 (troponin I3, cardiac type) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Dilated cardiomyopathy 2A
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCACAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27570
This genomic variant is located on Chromosome 19, within the TNNI3 (troponin I3, cardiac type) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Dilated cardiomyopathy 1FF
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCACAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27571
This mutation occurs in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Hypertrophic cardiomyopathy
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCCCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27572
This mutation occurs in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Cardiomyopathy
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCCCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27573
Given this variant in gene TNNI3 (troponin I3, cardiac type) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Hypertrophic cardiomyopathy 7
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCCCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27574
Here is a genetic alteration in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Cardiovascular phenotype
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCCCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAG
Task1_train_27575
The gene TNNI3 (troponin I3, cardiac type) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Cardiomyopathy, familial restrictive, 1
CCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCC
CCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCTGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCC
Task1_train_27576
A variant found in Chromosome 19 affects TNNI3 (troponin I3, cardiac type). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Cardiomyopathy, familial restrictive, 1
CTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCCTTCTCTCCGCGCCGCTCCTCCGCCTCTCGCTCCAGCTCTTGCTTTGCAATCTGCAGCAGCAGAGTCTGCAGAGGGGTGGGAGGGAAGCGCAGCCCACCCGGGGCTTCAGGATAAAGACCAGGCGTGGGGAACCGCCTCTGCCCTTCTAAACCCTCCAGTTTGGTCTCCACTGTTCCAAGGCCCCGTCCCACCCCGAGCAGTACTCCCCGCTAAAGCCACGCCCCGAGCGGCCAAACCCCGCCCACTTCCGCCCACCTACCCCGAAAGCCCCACCCATTCTCAAGCTCCGCCCCCTGAGCACCTGCCTGCTCTTTCCCAGTCCCGCCCGTCCTCACCTTCAGCTGCAATTTTCTCGAGGCGGAGATCTTAGATTTTTTCTGCCAGGGTGAGATGGAGCAAGGAAGGATCATGGAGGGGGATTCGGAGACGACGGTGGAGGGGACCTCAAGACACCCCCAGCAAACCCAGCCGGTCCAGATTTGGGCCCACGTCCAACTTGAGCCCTGAGTCTACGGGAGGCCACGCCCCTCATTCCCATCCACCAATCTGGGTCTCTTCCTTTGGATAGGCACTTCCCATCTATCCCTAAGCAAGTCCGAGGGCAACGGAGTTCCGCCCGCAGGCTGCTGTCACCAATCCGAGCATGACCCTCTGCAAAACTCCGCCCCTGAAGCCCCTCCGCGTAGTCCCCGCCCCCTTCGCAGCCCTGGCTCCTCCCCCCACTCCCAGGGTCTTGGATCCCTCCGGCGCCTGTACTCTGCCCCCAGGAAGCCCCGTCCCACCTTGGCGTGCGGCTCCGTGGCATAAGCGCGGTAGTTGGAGGAGCGGCGTCTGATTGGGGCTGGTGCAGGGCGAGGTTCCCTAGCCTGGGTTAGGAGGAGTGGGGACCCCATCACCACCAAGACCCCACCCAGCCCTTACCGTACCGCACCCTCTGCTAGGGCTGCAGCCTCCCGCCCCAGACCCCTCACTGCAGCGCCCACCCTGGCCCTGGGGGTCCCAGCCACGCCTTAGCCCGCTGCTCTCACCGCATCGCTGCTCCTGGAAGGAGAGAAACCAAGGAGGGGGGTTAGTGGTGGGCTGTGTCCTGTCTCCTAAGGGACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGA
CTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCCTTCTCTCCGCGCCGCTCCTCCGCCTCTCGCTCCAGCTCTTGCTTTGCAATCTGCAGCAGCAGAGTCTGCAGAGGGGTGGGAGGGAAGCGCAGCCCACCCGGGGCTTCAGGATAAAGACCAGGCGTGGGGAACCGCCTCTGCCCTTCTAAACCCTCCAGTTTGGTCTCCACTGTTCCAAGGCCCCGTCCCACCCCGAGCAGTACTCCCCGCTAAAGCCACGCCCCGAGCGGCCAAACCCCGCCCACTTCCGCCCACCTACCCCGAAAGCCCCACCCATTCTCAAGCTCCGCCCCCTGAGCACCTGCCTGCTCTTTCCCAGTCCCGCCCGTCCTCACCTTCAGCTGCAATTTTCTCGCGGCGGAGATCTTAGATTTTTTCTGCCAGGGTGAGATGGAGCAAGGAAGGATCATGGAGGGGGATTCGGAGACGACGGTGGAGGGGACCTCAAGACACCCCCAGCAAACCCAGCCGGTCCAGATTTGGGCCCACGTCCAACTTGAGCCCTGAGTCTACGGGAGGCCACGCCCCTCATTCCCATCCACCAATCTGGGTCTCTTCCTTTGGATAGGCACTTCCCATCTATCCCTAAGCAAGTCCGAGGGCAACGGAGTTCCGCCCGCAGGCTGCTGTCACCAATCCGAGCATGACCCTCTGCAAAACTCCGCCCCTGAAGCCCCTCCGCGTAGTCCCCGCCCCCTTCGCAGCCCTGGCTCCTCCCCCCACTCCCAGGGTCTTGGATCCCTCCGGCGCCTGTACTCTGCCCCCAGGAAGCCCCGTCCCACCTTGGCGTGCGGCTCCGTGGCATAAGCGCGGTAGTTGGAGGAGCGGCGTCTGATTGGGGCTGGTGCAGGGCGAGGTTCCCTAGCCTGGGTTAGGAGGAGTGGGGACCCCATCACCACCAAGACCCCACCCAGCCCTTACCGTACCGCACCCTCTGCTAGGGCTGCAGCCTCCCGCCCCAGACCCCTCACTGCAGCGCCCACCCTGGCCCTGGGGGTCCCAGCCACGCCTTAGCCCGCTGCTCTCACCGCATCGCTGCTCCTGGAAGGAGAGAAACCAAGGAGGGGGGTTAGTGGTGGGCTGTGTCCTGTCTCCTAAGGGACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGA
Task1_train_27577
A mutation in TNNI3 (troponin I3, cardiac type), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Dilated cardiomyopathy 1FF
GGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCCTTCTCTCCGCGCCGCTCCTCCGCCTCTCGCTCCAGCTCTTGCTTTGCAATCTGCAGCAGCAGAGTCTGCAGAGGGGTGGGAGGGAAGCGCAGCCCACCCGGGGCTTCAGGATAAAGACCAGGCGTGGGGAACCGCCTCTGCCCTTCTAAACCCTCCAGTTTGGTCTCCACTGTTCCAAGGCCCCGTCCCACCCCGAGCAGTACTCCCCGCTAAAGCCACGCCCCGAGCGGCCAAACCCCGCCCACTTCCGCCCACCTACCCCGAAAGCCCCACCCATTCTCAAGCTCCGCCCCCTGAGCACCTGCCTGCTCTTTCCCAGTCCCGCCCGTCCTCACCTTCAGCTGCAATTTTCTCGAGGCGGAGATCTTAGATTTTTTCTGCCAGGGTGAGATGGAGCAAGGAAGGATCATGGAGGGGGATTCGGAGACGACGGTGGAGGGGACCTCAAGACACCCCCAGCAAACCCAGCCGGTCCAGATTTGGGCCCACGTCCAACTTGAGCCCTGAGTCTACGGGAGGCCACGCCCCTCATTCCCATCCACCAATCTGGGTCTCTTCCTTTGGATAGGCACTTCCCATCTATCCCTAAGCAAGTCCGAGGGCAACGGAGTTCCGCCCGCAGGCTGCTGTCACCAATCCGAGCATGACCCTCTGCAAAACTCCGCCCCTGAAGCCCCTCCGCGTAGTCCCCGCCCCCTTCGCAGCCCTGGCTCCTCCCCCCACTCCCAGGGTCTTGGATCCCTCCGGCGCCTGTACTCTGCCCCCAGGAAGCCCCGTCCCACCTTGGCGTGCGGCTCCGTGGCATAAGCGCGGTAGTTGGAGGAGCGGCGTCTGATTGGGGCTGGTGCAGGGCGAGGTTCCCTAGCCTGGGTTAGGAGGAGTGGGGACCCCATCACCACCAAGACCCCACCCAGCCCTTACCGTACCGCACCCTCTGCTAGGGCTGCAGCCTCCCGCCCCAGACCCCTCACTGCAGCGCCCACCCTGGCCCTGGGGGTCCCAGCCACGCCTTAGCCCGCTGCTCTCACCGCATCGCTGCTCCTGGAAGGAGAGAAACCAAGGAGGGGGGTTAGTGGTGGGCTGTGTCCTGTCTCCTAAGGGACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCG
GGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCCTTCTCTCCGCGCCGCTCCTCCGCCTCTCGCTCCAGCTCTTGCTTTGCAATCTGCAGCAGCAGAGTCTGCAGAGGGGTGGGAGGGAAGCGCAGCCCACCCGGGGCTTCAGGATAAAGACCAGGCGTGGGGAACCGCCTCTGCCCTTCTAAACCCTCCAGTTTGGTCTCCACTGTTCCAAGGCCCCGTCCCACCCCGAGCAGTACTCCCCGCTAAAGCCACGCCCCGAGCGGCCAAACCCCGCCCACTTCCGCCCACCTACCCCGAAAGCCCCACCCATTCTCAAGCTCCGCCCCCTGAGCACCTGCCTGCTCTTTCCCAGTCCCGCCCGTCCTCACCTTCAGCTGCAATTTTCTCGAGGCGGAGATCTTAGATTTTTTCTGCCAGGGTGAGATGGAGCAAGGAAGGATCATGGAGGGGGATTCGGAGACGACGGTGGAGGGGACCTCAAGACACCCCCAGCAAACCCAGCCGGTCCAGATTTGGGCCCACGTCCAACTTGAGCCCTGAGTCTACGGGAGGCCACGCCCCTCATTCCCATCCACCAATCTGGGTCTCTTCCTTTGGATAGGCACTTCCCATCTATCCCTAAGCAAGTCCGAGGGCAACGGAGTTCCGCCCGCAGGCTGCTGTCACCAATCCGAGCATGACCCTCTGCAAAACTCCGCCCCTGAAGCCCCTCCGCGTAGTCCCCGCCCCCTTCGCAGCCCTGGCTCCTCCCCCCACTCCCAGGGTCTTGGATCCCTCCGGCGCCTGTACTCTGCCCCCAGGAAGCCCCGTCCCACCTGGGCGTGCGGCTCCGTGGCATAAGCGCGGTAGTTGGAGGAGCGGCGTCTGATTGGGGCTGGTGCAGGGCGAGGTTCCCTAGCCTGGGTTAGGAGGAGTGGGGACCCCATCACCACCAAGACCCCACCCAGCCCTTACCGTACCGCACCCTCTGCTAGGGCTGCAGCCTCCCGCCCCAGACCCCTCACTGCAGCGCCCACCCTGGCCCTGGGGGTCCCAGCCACGCCTTAGCCCGCTGCTCTCACCGCATCGCTGCTCCTGGAAGGAGAGAAACCAAGGAGGGGGGTTAGTGGTGGGCTGTGTCCTGTCTCCTAAGGGACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCG
Task1_train_27578
Here’s a variant in TNNI3 (troponin I3, cardiac type) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Hypertrophic cardiomyopathy
GAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCCTTCTCTCCGCGCCGCTCCTCCGCCTCTCGCTCCAGCTCTTGCTTTGCAATCTGCAGCAGCAGAGTCTGCAGAGGGGTGGGAGGGAAGCGCAGCCCACCCGGGGCTTCAGGATAAAGACCAGGCGTGGGGAACCGCCTCTGCCCTTCTAAACCCTCCAGTTTGGTCTCCACTGTTCCAAGGCCCCGTCCCACCCCGAGCAGTACTCCCCGCTAAAGCCACGCCCCGAGCGGCCAAACCCCGCCCACTTCCGCCCACCTACCCCGAAAGCCCCACCCATTCTCAAGCTCCGCCCCCTGAGCACCTGCCTGCTCTTTCCCAGTCCCGCCCGTCCTCACCTTCAGCTGCAATTTTCTCGAGGCGGAGATCTTAGATTTTTTCTGCCAGGGTGAGATGGAGCAAGGAAGGATCATGGAGGGGGATTCGGAGACGACGGTGGAGGGGACCTCAAGACACCCCCAGCAAACCCAGCCGGTCCAGATTTGGGCCCACGTCCAACTTGAGCCCTGAGTCTACGGGAGGCCACGCCCCTCATTCCCATCCACCAATCTGGGTCTCTTCCTTTGGATAGGCACTTCCCATCTATCCCTAAGCAAGTCCGAGGGCAACGGAGTTCCGCCCGCAGGCTGCTGTCACCAATCCGAGCATGACCCTCTGCAAAACTCCGCCCCTGAAGCCCCTCCGCGTAGTCCCCGCCCCCTTCGCAGCCCTGGCTCCTCCCCCCACTCCCAGGGTCTTGGATCCCTCCGGCGCCTGTACTCTGCCCCCAGGAAGCCCCGTCCCACCTTGGCGTGCGGCTCCGTGGCATAAGCGCGGTAGTTGGAGGAGCGGCGTCTGATTGGGGCTGGTGCAGGGCGAGGTTCCCTAGCCTGGGTTAGGAGGAGTGGGGACCCCATCACCACCAAGACCCCACCCAGCCCTTACCGTACCGCACCCTCTGCTAGGGCTGCAGCCTCCCGCCCCAGACCCCTCACTGCAGCGCCCACCCTGGCCCTGGGGGTCCCAGCCACGCCTTAGCCCGCTGCTCTCACCGCATCGCTGCTCCTGGAAGGAGAGAAACCAAGGAGGGGGGTTAGTGGTGGGCTGTGTCCTGTCTCCTAAGGGACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAAC
GAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCCTTCTCTCCGCGCCGCTCCTCCGCCTCTCGCTCCAGCTCTTGCTTTGCAATCTGCAGCAGCAGAGTCTGCAGAGGGGTGGGAGGGAAGCGCAGCCCACCCGGGGCTTCAGGATAAAGACCAGGCGTGGGGAACCGCCTCTGCCCTTCTAAACCCTCCAGTTTGGTCTCCACTGTTCCAAGGCCCCGTCCCACCCCGAGCAGTACTCCCCGCTAAAGCCACGCCCCGAGCGGCCAAACCCCGCCCACTTCCGCCCACCTACCCCGAAAGCCCCACCCATTCTCAAGCTCCGCCCCCTGAGCACCTGCCTGCTCTTTCCCAGTCCCGCCCGTCCTCACCTTCAGCTGCAATTTTCTCGAGGCGGAGATCTTAGATTTTTTCTGCCAGGGTGAGATGGAGCAAGGAAGGATCATGGAGGGGGATTCGGAGACGACGGTGGAGGGGACCTCAAGACACCCCCAGCAAACCCAGCCGGTCCAGATTTGGGCCCACGTCCAACTTGAGCCCTGAGTCTACGGGAGGCCACGCCCCTCATTCCCATCCACCAATCTGGGTCTCTTCCTTTGGATAGGCACTTCCCATCTATCCCTAAGCAAGTCCGAGGGCAACGGAGTTCCGCCCGCAGGCTGCTGTCACCAATCCGAGCATGACCCTCTGCAAAACTCCGCCCCTGAAGCCCCTCCGCGTAGTCCCCGCCCCCTTCGCAGCCCTGGCTCCTCCCCCCACTCCCAGGGTCTTGGATCCCTCCGGCGCCTGTACTCTGCCCCCAGGAAGCCCCGTCCCACCTTGGCGTGCGGCTCCGTGGCATAAGCGCGGTAGTTGGAGGAGCGGCATCTGATTGGGGCTGGTGCAGGGCGAGGTTCCCTAGCCTGGGTTAGGAGGAGTGGGGACCCCATCACCACCAAGACCCCACCCAGCCCTTACCGTACCGCACCCTCTGCTAGGGCTGCAGCCTCCCGCCCCAGACCCCTCACTGCAGCGCCCACCCTGGCCCTGGGGGTCCCAGCCACGCCTTAGCCCGCTGCTCTCACCGCATCGCTGCTCCTGGAAGGAGAGAAACCAAGGAGGGGGGTTAGTGGTGGGCTGTGTCCTGTCTCCTAAGGGACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAAC
Task1_train_27579
An alteration has been detected in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Cardiovascular phenotype
GAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCCTTCTCTCCGCGCCGCTCCTCCGCCTCTCGCTCCAGCTCTTGCTTTGCAATCTGCAGCAGCAGAGTCTGCAGAGGGGTGGGAGGGAAGCGCAGCCCACCCGGGGCTTCAGGATAAAGACCAGGCGTGGGGAACCGCCTCTGCCCTTCTAAACCCTCCAGTTTGGTCTCCACTGTTCCAAGGCCCCGTCCCACCCCGAGCAGTACTCCCCGCTAAAGCCACGCCCCGAGCGGCCAAACCCCGCCCACTTCCGCCCACCTACCCCGAAAGCCCCACCCATTCTCAAGCTCCGCCCCCTGAGCACCTGCCTGCTCTTTCCCAGTCCCGCCCGTCCTCACCTTCAGCTGCAATTTTCTCGAGGCGGAGATCTTAGATTTTTTCTGCCAGGGTGAGATGGAGCAAGGAAGGATCATGGAGGGGGATTCGGAGACGACGGTGGAGGGGACCTCAAGACACCCCCAGCAAACCCAGCCGGTCCAGATTTGGGCCCACGTCCAACTTGAGCCCTGAGTCTACGGGAGGCCACGCCCCTCATTCCCATCCACCAATCTGGGTCTCTTCCTTTGGATAGGCACTTCCCATCTATCCCTAAGCAAGTCCGAGGGCAACGGAGTTCCGCCCGCAGGCTGCTGTCACCAATCCGAGCATGACCCTCTGCAAAACTCCGCCCCTGAAGCCCCTCCGCGTAGTCCCCGCCCCCTTCGCAGCCCTGGCTCCTCCCCCCACTCCCAGGGTCTTGGATCCCTCCGGCGCCTGTACTCTGCCCCCAGGAAGCCCCGTCCCACCTTGGCGTGCGGCTCCGTGGCATAAGCGCGGTAGTTGGAGGAGCGGCGTCTGATTGGGGCTGGTGCAGGGCGAGGTTCCCTAGCCTGGGTTAGGAGGAGTGGGGACCCCATCACCACCAAGACCCCACCCAGCCCTTACCGTACCGCACCCTCTGCTAGGGCTGCAGCCTCCCGCCCCAGACCCCTCACTGCAGCGCCCACCCTGGCCCTGGGGGTCCCAGCCACGCCTTAGCCCGCTGCTCTCACCGCATCGCTGCTCCTGGAAGGAGAGAAACCAAGGAGGGGGGTTAGTGGTGGGCTGTGTCCTGTCTCCTAAGGGACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAAC
GAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCCTTCTCTCCGCGCCGCTCCTCCGCCTCTCGCTCCAGCTCTTGCTTTGCAATCTGCAGCAGCAGAGTCTGCAGAGGGGTGGGAGGGAAGCGCAGCCCACCCGGGGCTTCAGGATAAAGACCAGGCGTGGGGAACCGCCTCTGCCCTTCTAAACCCTCCAGTTTGGTCTCCACTGTTCCAAGGCCCCGTCCCACCCCGAGCAGTACTCCCCGCTAAAGCCACGCCCCGAGCGGCCAAACCCCGCCCACTTCCGCCCACCTACCCCGAAAGCCCCACCCATTCTCAAGCTCCGCCCCCTGAGCACCTGCCTGCTCTTTCCCAGTCCCGCCCGTCCTCACCTTCAGCTGCAATTTTCTCGAGGCGGAGATCTTAGATTTTTTCTGCCAGGGTGAGATGGAGCAAGGAAGGATCATGGAGGGGGATTCGGAGACGACGGTGGAGGGGACCTCAAGACACCCCCAGCAAACCCAGCCGGTCCAGATTTGGGCCCACGTCCAACTTGAGCCCTGAGTCTACGGGAGGCCACGCCCCTCATTCCCATCCACCAATCTGGGTCTCTTCCTTTGGATAGGCACTTCCCATCTATCCCTAAGCAAGTCCGAGGGCAACGGAGTTCCGCCCGCAGGCTGCTGTCACCAATCCGAGCATGACCCTCTGCAAAACTCCGCCCCTGAAGCCCCTCCGCGTAGTCCCCGCCCCCTTCGCAGCCCTGGCTCCTCCCCCCACTCCCAGGGTCTTGGATCCCTCCGGCGCCTGTACTCTGCCCCCAGGAAGCCCCGTCCCACCTTGGCGTGCGGCTCCGTGGCATAAGCGCGGTAGTTGGAGGAGCGGCATCTGATTGGGGCTGGTGCAGGGCGAGGTTCCCTAGCCTGGGTTAGGAGGAGTGGGGACCCCATCACCACCAAGACCCCACCCAGCCCTTACCGTACCGCACCCTCTGCTAGGGCTGCAGCCTCCCGCCCCAGACCCCTCACTGCAGCGCCCACCCTGGCCCTGGGGGTCCCAGCCACGCCTTAGCCCGCTGCTCTCACCGCATCGCTGCTCCTGGAAGGAGAGAAACCAAGGAGGGGGGTTAGTGGTGGGCTGTGTCCTGTCTCCTAAGGGACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAAC
Task1_train_27580
A variant was discovered in gene DNAAF3, DNAAF3-AS1 (dynein axonemal assembly factor 3| DNAAF3 antisense RNA 1), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Primary ciliary dyskinesia
TCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTGTATTACATATTATAGGTAATCTAGAGATGATTTGCGGTGTATGGGACCATGTGTACAGGCTATTTGTAAGTACATCTTTTTTGTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGAATGCAGTTGTGCCATCATAGTTCACTGTTACCTCGACCACCTGAGCTTAAGGGACCCTCCTCCTCCAGCTTCCCAGCTAGCTGGGGCTAGGCATTAGCTACCACACCCAGCTAATGTTTTATTTCTTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGTAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG
TCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGCTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTGTATTACATATTATAGGTAATCTAGAGATGATTTGCGGTGTATGGGACCATGTGTACAGGCTATTTGTAAGTACATCTTTTTTGTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGAATGCAGTTGTGCCATCATAGTTCACTGTTACCTCGACCACCTGAGCTTAAGGGACCCTCCTCCTCCAGCTTCCCAGCTAGCTGGGGCTAGGCATTAGCTACCACACCCAGCTAATGTTTTATTTCTTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGTAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG
Task1_train_27581
Gene DNAAF3, DNAAF3-AS1 (dynein axonemal assembly factor 3| DNAAF3 antisense RNA 1) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Primary ciliary dyskinesia 2
CCCTGGGTCATTAATGACTGATATGGTTTGGATCTGTGTCCCTGCTTAAATCTCATGTTGAATTGTAATCCCCAATATTGGAGGCGGGGCCTGGTGGGAGGTGATTGGGTCACAGGGGCAGATTTCTCCCTTGCTGTTCTCGTGATAGTGAGTTCCCACAAAATCTGGTTATTTGCAAGTGTGCGCCTCTTCCCCACTGCCTCTCTTGCCCCTTTTCCTGCCGTGGAACAGATGCCTGCATCCCCTTCGCCTCCTGTCATGATTGTAAGTTTCCTGAGGCCTTCCCAGCCATACTCCCTGTACAGCCTGTGGAACTGTGAGTCAATTAAACCTCTTTTCTTGGGGCCGGGTGTGATCGCACCCGCCTGTAAACCTAGCACTTTGGCAGGCCAAGGCGGGCGGATCACCTGAGGTCAGCATCTCGAGACCATCCTGGCCAACATGGTGAAACCCCGGCTCTACTAAAAATACAAAACCTTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAATCCAGGAGGCAGAGGTTATGGAGAGCCAAGATCGTGCCATTGCACTCCAATCTGGGCAACGGGACAAGACTCTGCCTCAAATAAATAAATAAATAAACAAACAAACCTGTTTTCTTTTTCTTTCTTTCTTTTTTTTTTAGATGGAGGTTTTGCTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTGTTGTATGTTTAGTAGAGACGGGGTTTCACCATGTTGAGCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACTGCACCCAGCCTCTCCTGGAATTTTCTAAGTGGCTCTAAGATGTATTATATTTAGCCCCATTTTACAGGTAGGAGGAGCTGAGGCTCTAAGATGGCAAATTACATCAGAGGGGACCATCATCAATAAATATATTGGATTTTTTTTTTCATCAGAGGTACCACACTGGAAAATACCAAACATTTTTGGTTTTTAGATGGAGTTTCGCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCTGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTGCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCCGGCCGGAGTTTCGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGTAACCTCCGCCTCCCAGGAAAATAACCAAACTTTTTAATTGTACCATTGAAATGCCAGAATCCCTCTAGGGAGGGGGAGGAGACCAGCGGTCAGAATGCCTGGGTCCTAGCAACAGACCTTGCAGCCCCATCTTCTCCGGTTCCTCCAGGGCTAGGCTGAAGATCAGCATGTGTCGGGCCACAGCTTCCAGATTATTCTCCAGCACAAAGAACTAGAAGGATGGACAGGGCAGAATAATTCTGAGACCTGTTTGCCTGGGTCCTAGGAGACCCAGGAGAGCAGGCCCTCAGCTCTCTCCTTCCACACACCCGAGTTCTGTACACCAGCCTCTTCCTTCAAACACAGAAGTCTGTGTCCCCAGAGCTCTCTTCCCTTCCATTACTCAGAAGACCTCATCCTCGAGCTCTTCCCCACTATAGAACCCAGGAGTTCCAAACCCCAGCCCCTTCCTTCCCCCAAGACGCATCGGTTCGCTCCCAGCTTCTGCCTCCCTCAGATCTAGGAGTCTCCAGCCCCTTCATTCCTGGACCTGAGGTTTTAGAATTTCAATCCCTTCCTCCCTCAAGGACTCGGGAATCTGGGCTCTCATCTTCATCCCAGCTCACGTTGAACCTCCTGCGAGGCCAGAACTTCGCTCGGGACAGGGTCCGCAGCAGGTGCCGTCCATCCACAGAGCCCAGAAGCAGCACATCTAGCTCGGGGTTGCTGTGCACTGTATCGGCCTGGGAGTCTGGGTCCACAGGAGGACCTGGCAAGATGACAGCTGGCTGGGGCACCATGGTGGTTGGCAGAGCGTCCACCGTAGCATCCCCTATAAAAAATGGACTACAAATCCCAGTAGGCGTTCCGCCCGTGGCCTAGGTTCTAAGGGGAGGTGTTTCCTCTGAGTATTCTGGGATTCGCAGTCCGCAGACAGGACCTCGGGGCTGCCCCTGGGAGCGCGCCCTCTGCCGCTGGAGCGTTGGAGAACGTTAGCGCCCCCCTTGCCACCGACGCTGGGACTACGAGCTCTAAAAGGCCGTCTGCTCAGGCTGGGAAGGCAGACGGTGTATCAGACCTTGCGTGCTGGGACTCACTTTCAGCCTGCAGGTCCAGCGCCGGGGACAGGCCCCACCAGGACACGGAGCCGAAGCCGCTGCCGGAGCCGGCAGGTGTGGTCATCACCCTGCGGAAAAGACATTCTGGGAATCGCACACATTGCCCGCCCCGCTCCCCTCTCACCGCCCCTCACTTCTCGCCCCTTTGCCTCCACATGATACCTTGCCCACACCTTTATCCTCCAAATATCCCGGGACGCCCCTTCCTCTCTGCTCAGTGCAGCACTGTGGACCCGCGGCACTCCACAACCGCTGCCCAGAGTCCCCGCCCTTTTCGAGGAATCAAGCAATGGAAGCATGTGGGATGGGACCACAGCGAGCAACTGACCAATGAGAGTGAGCGAGGCCCGCCCTCTACAAACTTTTGGCCAATGGGAGCACTGAGGGCCAGCCTTCCCCCACACCTAGGAGAAGAGGGCGTGTGGACGCGGTTGTCATGACGACGGCGCCGGCGGGGGAAGGGGCGGTGCTAGAACAGGTTGGGGCGGAGTCAGGGTCGGTCCAAATTTCTGGAATGGGGGAGGCCTGGGCTGATTAAAATTGAGAGTGAAGGGAGCTTAATCTTATTTCTTGTTTTTTGTTTTTTTGTTTTCTTCATATGCCTTTGCTCATACGTAACGGAATTTTCATCAATTCAAATAAAGTGAAGTGTCTAGACTTTAGATGGCAGGCTTCTGAGCCCGCTCCCCGCCCCAGCACAACGTGGGCTCTACCACACAGAACAGCCCACAGGTGGGACACTGATGTGCAGGTCATTAAAAATTCAGGGATTTGTGAGCTGGTTATTGTTACACGAAGCCATAATTTAAACTTACAGCTAGATCCTTTTGTAGTTTCTAAGCGGGATGATTGGGTGTTCACGCGCATGCGTGAGATGTGCCTCCCTCAAACCTTGTTACGACATCGGCACATTACTCTTCTGACATGAACAAAAAAATTACAGGTAAATTCTGTAATCGTACAGTTAAATCAACTGCATTAAAATAAGGGTAAGTCGGCCGGGCGCTGTGGCCACGCCTGTGATCCCAACACTTTGGGAGGTCAAGGTGGGCAGATAACTTGAGGTCAGAAGTTGGAGACCAGTCTGGCCAACATGGTGAAACCGCGCCTCGACCTTAAAAAATACAAAAATTAACCGGGCGTGGTGGCACGCACCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAGTCTGTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCGCGCCTCTGAACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAACCAAAGTCTGAATGAGGCACATCTCTAGATCACCCCAGCACCCAGCACTGGGCTCAGCGCCCAAGGGGACTTGGCTCTCTGCCTCCTCTCCTTGCCCAGACACATGAGCTTAGACCAGTCACCCTTTCTGAGCCTCAGTCTGCTGCTCTGTGAAATGGGAATGTAGCGTGCAGCGGGCAGAGGTGCAGCGGATCTGCCTCCTGAGGGCAGATCTGGGCACTGGGAAGACAATACCTACTGGGGAAACGAAGGTTGAGACCTCAGACATTCCTGCAGAATCAGGCTGGCTAACCAGCCCCTTC
CCCTGGGTCATTAATGACTGATATGGTTTGGATCTGTGTCCCTGCTTAAATCTCATGTTGAATTGTAATCCCCAATATTGGAGGCGGGGCCTGGTGGGAGGTGATTGGGTCACAGGGGCAGATTTCTCCCTTGCTGTTCTCGTGATAGTGAGTTCCCACAAAATCTGGTTATTTGCAAGTGTGCGCCTCTTCCCCACTGCCTCTCTTGCCCCTTTTCCTGCCGTGGAACAGATGCCTGCATCCCCTTCGCCTCCTGTCATGATTGTAAGTTTCCTGAGGCCTTCCCAGCCATACTCCCTGTACAGCCTGTGGAACTGTGAGTCAATTAAACCTCTTTTCTTGGGGCCGGGTGTGATCGCACCCGCCTGTAAACCTAGCACTTTGGCAGGCCAAGGCGGGCGGATCACCTGAGGTCAGCATCTCGAGACCATCCTGGCCAACATGGTGAAACCCCGGCTCTACTAAAAATACAAAACCTTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAATCCAGGAGGCAGAGGTTATGGAGAGCCAAGATCGTGCCATTGCACTCCAATCTGGGCAACGGGACAAGACTCTGCCTCAAATAAATAAATAAATAAACAAACAAACCTGTTTTCTTTTTCTTTCTTTCTTTTTTTTTTAGATGGAGGTTTTGCTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTGTTGTATGTTTAGTAGAGACGGGGTTTCACCATGTTGAGCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACTGCACCCAGCCTCTCCTGGAATTTTCTAAGTGGCTCTAAGATGTATTATATTTAGCCCCATTTTACAGGTAGGAGGAGCTGAGGCTCTAAGATGGCAAATTACATCAGAGGGGACCATCATCAATAAATATATTGGATTTTTTTTTTCATCAGAGGTACCACACTGGAAAATACCAAACATTTTTGGTTTTTAGATGGAGTTTCGCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCTGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTGCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCGCGCCCGGCCGGAGTTTCGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGTAACCTCCGCCTCCCAGGAAAATAACCAAACTTTTTAATTGTACCATTGAAATGCCAGAATCCCTCTAGGGAGGGGGAGGAGACCAGCGGTCAGAATGCCTGGGTCCTAGCAACAGACCTTGCAGCCCCATCTTCTCCGGTTCCTCCAGGGCTAGGCTGAAGATCAGCATGTGTCGGGCCACAGCTTCCAGATTATTCTCCAGCACAAAGAACTAGAAGGATGGACAGGGCAGAATAATTCTGAGACCTGTTTGCCTGGGTCCTAGGAGACCCAGGAGAGCAGGCCCTCAGCTCTCTCCTTCCACACACCCGAGTTCTGTACACCAGCCTCTTCCTTCAAACACAGAAGTCTGTGTCCCCAGAGCTCTCTTCCCTTCCATTACTCAGAAGACCTCATCCTCGAGCTCTTCCCCACTATAGAACCCAGGAGTTCCAAACCCCAGCCCCTTCCTTCCCCCAAGACGCATCGGTTCGCTCCCAGCTTCTGCCTCCCTCAGATCTAGGAGTCTCCAGCCCCTTCATTCCTGGACCTGAGGTTTTAGAATTTCAATCCCTTCCTCCCTCAAGGACTCGGGAATCTGGGCTCTCATCTTCATCCCAGCTCACGTTGAACCTCCTGCGAGGCCAGAACTTCGCTCGGGACAGGGTCCGCGGCAGGTGCCGTCCATCCACAGAGCCCAGAAGCAGCACATCTAGCTCGGGGTTGCTGTGCACTGTATCGGCCTGGGAGTCTGGGTCCACAGGAGGACCTGGCAAGATGACAGCTGGCTGGGGCACCATGGTGGTTGGCAGAGCGTCCACCGTAGCATCCCCTATAAAAAATGGACTACAAATCCCAGTAGGCGTTCCGCCCGTGGCCTAGGTTCTAAGGGGAGGTGTTTCCTCTGAGTATTCTGGGATTCGCAGTCCGCAGACAGGACCTCGGGGCTGCCCCTGGGAGCGCGCCCTCTGCCGCTGGAGCGTTGGAGAACGTTAGCGCCCCCCTTGCCACCGACGCTGGGACTACGAGCTCTAAAAGGCCGTCTGCTCAGGCTGGGAAGGCAGACGGTGTATCAGACCTTGCGTGCTGGGACTCACTTTCAGCCTGCAGGTCCAGCGCCGGGGACAGGCCCCACCAGGACACGGAGCCGAAGCCGCTGCCGGAGCCGGCAGGTGTGGTCATCACCCTGCGGAAAAGACATTCTGGGAATCGCACACATTGCCCGCCCCGCTCCCCTCTCACCGCCCCTCACTTCTCGCCCCTTTGCCTCCACATGATACCTTGCCCACACCTTTATCCTCCAAATATCCCGGGACGCCCCTTCCTCTCTGCTCAGTGCAGCACTGTGGACCCGCGGCACTCCACAACCGCTGCCCAGAGTCCCCGCCCTTTTCGAGGAATCAAGCAATGGAAGCATGTGGGATGGGACCACAGCGAGCAACTGACCAATGAGAGTGAGCGAGGCCCGCCCTCTACAAACTTTTGGCCAATGGGAGCACTGAGGGCCAGCCTTCCCCCACACCTAGGAGAAGAGGGCGTGTGGACGCGGTTGTCATGACGACGGCGCCGGCGGGGGAAGGGGCGGTGCTAGAACAGGTTGGGGCGGAGTCAGGGTCGGTCCAAATTTCTGGAATGGGGGAGGCCTGGGCTGATTAAAATTGAGAGTGAAGGGAGCTTAATCTTATTTCTTGTTTTTTGTTTTTTTGTTTTCTTCATATGCCTTTGCTCATACGTAACGGAATTTTCATCAATTCAAATAAAGTGAAGTGTCTAGACTTTAGATGGCAGGCTTCTGAGCCCGCTCCCCGCCCCAGCACAACGTGGGCTCTACCACACAGAACAGCCCACAGGTGGGACACTGATGTGCAGGTCATTAAAAATTCAGGGATTTGTGAGCTGGTTATTGTTACACGAAGCCATAATTTAAACTTACAGCTAGATCCTTTTGTAGTTTCTAAGCGGGATGATTGGGTGTTCACGCGCATGCGTGAGATGTGCCTCCCTCAAACCTTGTTACGACATCGGCACATTACTCTTCTGACATGAACAAAAAAATTACAGGTAAATTCTGTAATCGTACAGTTAAATCAACTGCATTAAAATAAGGGTAAGTCGGCCGGGCGCTGTGGCCACGCCTGTGATCCCAACACTTTGGGAGGTCAAGGTGGGCAGATAACTTGAGGTCAGAAGTTGGAGACCAGTCTGGCCAACATGGTGAAACCGCGCCTCGACCTTAAAAAATACAAAAATTAACCGGGCGTGGTGGCACGCACCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAGTCTGTTGAACCTGGGAGGCAGAGGTTGCAGTGAACTGAGATCGCGCCTCTGAACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAACCAAAGTCTGAATGAGGCACATCTCTAGATCACCCCAGCACCCAGCACTGGGCTCAGCGCCCAAGGGGACTTGGCTCTCTGCCTCCTCTCCTTGCCCAGACACATGAGCTTAGACCAGTCACCCTTTCTGAGCCTCAGTCTGCTGCTCTGTGAAATGGGAATGTAGCGTGCAGCGGGCAGAGGTGCAGCGGATCTGCCTCCTGAGGGCAGATCTGGGCACTGGGAAGACAATACCTACTGGGGAAACGAAGGTTGAGACCTCAGACATTCCTGCAGAATCAGGCTGGCTAACCAGCCCCTTC
Task1_train_27582
A variant found in Chromosome 19 affects AURKC (aurora kinase C). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Infertility associated with multi-tailed spermatozoa and excessive DNA
AACTCCACTGCCTTATGTAAAGAAACATATTGAAAGGCTCTGAAGGAGTTCACTGAATAAATAGCTAGAACTGGCTTAGAGATAGGTACAAAGAGATTTCTAGAGGGTTCCGGAAAGGGAACCATGGCAATGATTTTCCCAGGAGCAATGGTCCAATCAGCTTGCTGTGTCAGGATGAGTGGTCTTCCATCTTTCCTCCTGTTTCTGTTTCACTTCCTCGGGCCTCAAGTCCTGTGAGAGATCATCTGAGTGGCTCAATGTAGGTTCTATGTCTGGCTACTTGCTGTGCTAGGACAACAGGGAGGATCTGTGTCCATGTTACCATCCATCCTATAAGACCACATAAAAAGGAGAGGAAAACCACACCCCACACACCAGTAACTGGTGCAATTTAAAAGGAGGAAATGGAGTTACTGGACCAAAAAGATTCCACTGTAATCATACAATTCATGGTAAGTGTTCCACCTCAGACGGAAATTGTGGCAGGCTTCACTTCCAGGGTGACTTTTCTTTGCACCCACAGATAATAGAGGAGTTGGCAGATGCCCTGACCTACTGCCATGACAAGAAAGTGATTCACAGAGATATTAAGCCAGAGAACCTGCTGCTGGGGTTCAGGGGTGAGGTGAAGATTGCAGATTTTGGCTGGTCTGTGCACACCCCCTCCCTGAGGTAGGTCAGGTGGTGGTGGTAGGGTGAGTTCTGAGTACCAGTTAGGAATGACCCAGTTTAATGTATTTCATGTGTCCATGTGTAAAACCTAGATACGAACTTGGGGTTTCTATTGGAATACTGCCTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTGAGACAGAGTCTAACTCTTTCACCCAGGCTGGAGTGCAGGGGCACAATCTCGGCCTCCCAGGTTAAAGCGGTTCTACTGCCTCAGTCTCCCAAGTAGCTGGGATAACAGGCATGTGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCTGGCTGAACTACTGCCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTAGATTGCAATAGTGTGATCTCGGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGGGCCATCACACCCGGCTGATTTTGTATTTTTAGTAAAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTCCAACTCCTGACCTCAGGTAATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATCATAGGCATGAGCCACGATGCCTGGCCAATGCTGCCATTTTCAAACACCTATACTTGATATGTATTCGTAGATTTAAATAATGTGGTCCAATCAAACCTTTTATTTTCTGATCTTTGTTAATATATAACTATACCAGTAAGTTTGCATGTAAATAAAGTCATTGCTCCACAATTCCAAAGGAGTGCATTTTTCTGTATGAATGATTTTCATACAGAAATTTTCTTACCATAATTTATTTACTTGGCTCTCATTGATACACCATCAGTTTGTTCTAGATCTTTCTTAATGCTGAGAATATTCTTGTGAAAACATTCTGGAGCATGAGCTAAATCACTGTGTGAATAATTCCAAAATATGGATTTATTAATAGTAGGCCCCAGTACTTTTCTGAACCTTGATCCATATTAAAAATTTGTCTCTCCAAACTCCTGTGCTTGGGAGGGACTTTCCAGGGTGTCCTAGGGTCTCCACATCTCAATGAAAGCTGGGGAAGGAGAATTTCCCTCATCCTGGGCCTCTGCTTAGTACTTATTCCCTTTTCTGCCTTCCTCTAGGAGGAAGACAATGTGTGGGACACTGGACTACTTGCCGCCAGAAATGATTGAGGGGAGAACATATGATGAAAAGGTGGATTTGTGGTGCATTGGAGTGCTCTGCTATGAGCTGCTGGTGGGATATCCACCCTTTGAGAGCGCCTCCCACAGTGAGACTTACAGACGCATCCTCAAGGTGGGACAGTCACCTTTGGGCATTCATGGGGGAGCTGGTCAGTGATGGCTGCTGGGCTGTGGGCACACACACACACAGGGTTGTCTTCTGTGGTCCAGAACAGCGCCTTAACAAGGCTCAAAGAAGAGGGAGGACATTGATCAAAGAAATTAACCAGACTTCTCTTTCTTCTTTCCTGGCCTCATCAGGTAGATGTGAGGTTTCCACTATCAATGCCTCTGGGGGCCCGGGACTTGATTTCCAGGCTTCTCAGATACCAGCCCTTGGAGAGACTGCCCCTGGCCCAGATCCTGAAGCACCCCTGGGTTCAGGCCCACTCCCGAAGGGTGCTGCCTCCCTGTGCTCAGATGGCTTCCTGAGCCCTGTCTGCCTCTGTTCCCTTTGTGTGTGTTCAGGGAGCTCTCCTGGCTCTGCCACCTCATTTGTCTTTATTTTTTTCTCTTTTAAGATGTAAGATGCTAATTAATAAAAGCTGAATCATTTCATACCAGCTCTTCATAGTTGTGTGAGTTATTATGTGACTGGGTAGAATCTTTATTTCTTGTGGGAACTCTTTCCCATGAGAGCTGCCCAAGGTTGTTCTCCCTGCTACCCCCACCTTCCACCTCGGGAGATGGTGACTTCATTCTTCTGAAAACTCTTGCCTACTTTCAGGTCAGGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGAAGGCCAAGGCAGGCGCAACACTTGAGTTCAGGAGTTCAAGGCCAGCCTGGCCAACATGGTAAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGCGTTGTGGCGGGCACCTATAATCCCACCTACTTGTGAGGCTGAGACATGAGAATTGCTTGAACCTGGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGGAGTCCAGCATGGGAGACAGAGTGAGACACCGTCTCAAAAGAAAAGAAAGAAAACTCTTGTCTACTTTCTGCAGATAAATTCCCTGAGGGTACATAAACCTGCCACCTATCACAGTGGCTCCTTGATCCAACTTACTATTCTCCATGTTTTCAGGAGTATGCCATTTGTAAAACAGGACTGTCATCAACCCAAAGGTCCACTCTCTTTTTATGGACATCAATATGCTGCTGTCTCAGAAATAAAATGTTTCACTGCACGTCAGTGCAACCCACTTCTTAAGTGAATACACTAGCACCTCTGTGTTGTGTTGCACTCTGATGACATTAGAATAAGTCATTCCTCATAATAAATGTAATATCACCTCTTCTGAAATTACTGCATGCTGCAATTTGGGGAGTGGCCTTCCAGCCTTCTGTAACCTTCTGTGACAGCTTCATGTGGCAGCTGCTCCCTGCACCCATTATAAACTGACTACCACAGTAAGCATCTAGACTCCTCAGCTGTAAGCTCAAATGTTTTTTGATCAATGCAGTCAGTTACACCAGTATTTCTCCTAACTTTAGTTGTTAAGCACTTTATATGGAGTTTGCCTTGTTAATGTTACTCCTATCATTATATTCTACAAAGTCTCCTCATTGTGAAATATCCAGCAGTTGCAGGCATGATTTCTGCTATGACCAGACCCACTACGTAAGCATAAATAACTCAGCCACTTCACTTGGATGAAAAGCTCCCACTATTGCAGATCTATAAGTTAAATACTCCAAGACATTGGTTCATGGTTTTTAACCTGCACTTTCAGTATTTACCTCTTTTTTGTTTTTTCTTTCTTTTACCTGCATGGGGAGACACAGTGCTTACCTCTATATGCTTTGCTTCATCCTATCAGTTTTCCTGAATTAACATTTTAAACACTTGGCAATTCCTAATAAATTAACTGGTTCACACATATAAACTCTTACACATTTTAGGTGCTGGATAAACACATCACTGGGCACATTTTTGGCAGGTAAGGATAGAAAAATCACTAGGGCCTCAGCACTGATCACCAGATGATATATGTTTAAATAATGA
AACTCCACTGCCTTATGTAAAGAAACATATTGAAAGGCTCTGAAGGAGTTCACTGAATAAATAGCTAGAACTGGCTTAGAGATAGGTACAAAGAGATTTCTAGAGGGTTCCGGAAAGGGAACCATGGCAATGATTTTCCCAGGAGCAATGGTCCAATCAGCTTGCTGTGTCAGGATGAGTGGTCTTCCATCTTTCCTCCTGTTTCTGTTTCACTTCCTCGGGCCTCAAGTCCTGTGAGAGATCATCTGAGTGGCTCAATGTAGGTTCTATGTCTGGCTACTTGCTGTGCTAGGACAACAGGGAGGATCTGTGTCCATGTTACCATCCATCCTATAAGACCACATAAAAAGGAGAGGAAAACCACACCCCACACACCAGTAACTGGTGCAATTTAAAAGGAGGAAATGGAGTTACTGGACCAAAAAGATTCCACTGTAATCATACAATTCATGGTAAGTGTTCCACCTCAGACGGAAATTGTGGCAGGCTTCACTTCCAGGGTGACTTTTCTTTGCACCCACAGATAATAGAGGAGTTGGCAGATGCCCTGACCTACTGCCATGACAAGAAAGTGATTCACAGAGATATTAAGCCAGAGAACCTGCTGCTGGGGTTCAGGGGTGAGGTGAAGATTGCAGATTTTGGCTGGTCTGTGCACACCCCCTCCCTGAGGTAGGTCAGGTGGTGGTGGTAGGGTGAGTTCTGAGTACCAGTTAGGAATGACCCAGTTTAATGTATTTCATGTGTCCATGTGTAAAACCTAGATACGAACTTGGGGTTTCTATTGGAATACTGCCTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTGAGACAGAGTCTAACTCTTTCACCCAGGCTGGAGTGCAGGGGCACAATCTCGGCCTCCCAGGTTAAAGCGGTTCTACTGCCTCAGTCTCCCAAGTAGCTGGGATAACAGGCATGTGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCTGGCTGAACTACTGCCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTAGATTGCAATAGTGTGATCTCGGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGGGCCATCACACCCGGCTGATTTTGTATTTTTAGTAAAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTCCAACTCCTGACCTCAGGTAATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATCATAGGCATGAGCCACGATGCCTGGCCAATGCTGCCATTTTCAAACACCTATACTTGATATGTATTCGTAGATTTAAATAATGTGGTCCAATCAAACCTTTTATTTTCTGATCTTTGTTAATATATAACTATACCAGTAAGTTTGCATGTAAATAAAGTCATTGCTCCACAATTCCAAAGGAGTGCATTTTTCTGTATGAATGATTTTCATACAGAAATTTTCTTACCATAATTTATTTACTTGGCTCTCATTGATACACCATCAGTTTGTTCTAGATCTTTCTTAATGCTGAGAATATTCTTGTGAAAACATTCTGGAGCATGAGCTAAATCACTGTGTGAATAATTCCAAAATATGGATTTATTAATAGTAGGCCCCAGTACTTTTCTGAACCTTGATCCATATTAAAAATTTGTCTCTCCAAACTCCTGTGCTTGGGAGGGACTTTCCAGGGTGTCCTAGGGTCTCCACATCTCAATGAAAGCTGGGGAAGGAGAATTTCCCTCATCCTGGGCCTCTGCTTAGTACTTATTCCCTTTTCTGCCTTCCTCTAGGAGGAAGACAATGTGTGGGACACTGGACTACTTGCCGCCAGAAATGATTGAGGGGAGAACATATGATGAAAAGGTGGATTTGTGGTGCATTGGAGTGCTCTACTATGAGCTGCTGGTGGGATATCCACCCTTTGAGAGCGCCTCCCACAGTGAGACTTACAGACGCATCCTCAAGGTGGGACAGTCACCTTTGGGCATTCATGGGGGAGCTGGTCAGTGATGGCTGCTGGGCTGTGGGCACACACACACACAGGGTTGTCTTCTGTGGTCCAGAACAGCGCCTTAACAAGGCTCAAAGAAGAGGGAGGACATTGATCAAAGAAATTAACCAGACTTCTCTTTCTTCTTTCCTGGCCTCATCAGGTAGATGTGAGGTTTCCACTATCAATGCCTCTGGGGGCCCGGGACTTGATTTCCAGGCTTCTCAGATACCAGCCCTTGGAGAGACTGCCCCTGGCCCAGATCCTGAAGCACCCCTGGGTTCAGGCCCACTCCCGAAGGGTGCTGCCTCCCTGTGCTCAGATGGCTTCCTGAGCCCTGTCTGCCTCTGTTCCCTTTGTGTGTGTTCAGGGAGCTCTCCTGGCTCTGCCACCTCATTTGTCTTTATTTTTTTCTCTTTTAAGATGTAAGATGCTAATTAATAAAAGCTGAATCATTTCATACCAGCTCTTCATAGTTGTGTGAGTTATTATGTGACTGGGTAGAATCTTTATTTCTTGTGGGAACTCTTTCCCATGAGAGCTGCCCAAGGTTGTTCTCCCTGCTACCCCCACCTTCCACCTCGGGAGATGGTGACTTCATTCTTCTGAAAACTCTTGCCTACTTTCAGGTCAGGCACGGTGGCTCACGCCTGTAATTCCAGCACTTTGGAAGGCCAAGGCAGGCGCAACACTTGAGTTCAGGAGTTCAAGGCCAGCCTGGCCAACATGGTAAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGCGTTGTGGCGGGCACCTATAATCCCACCTACTTGTGAGGCTGAGACATGAGAATTGCTTGAACCTGGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGGAGTCCAGCATGGGAGACAGAGTGAGACACCGTCTCAAAAGAAAAGAAAGAAAACTCTTGTCTACTTTCTGCAGATAAATTCCCTGAGGGTACATAAACCTGCCACCTATCACAGTGGCTCCTTGATCCAACTTACTATTCTCCATGTTTTCAGGAGTATGCCATTTGTAAAACAGGACTGTCATCAACCCAAAGGTCCACTCTCTTTTTATGGACATCAATATGCTGCTGTCTCAGAAATAAAATGTTTCACTGCACGTCAGTGCAACCCACTTCTTAAGTGAATACACTAGCACCTCTGTGTTGTGTTGCACTCTGATGACATTAGAATAAGTCATTCCTCATAATAAATGTAATATCACCTCTTCTGAAATTACTGCATGCTGCAATTTGGGGAGTGGCCTTCCAGCCTTCTGTAACCTTCTGTGACAGCTTCATGTGGCAGCTGCTCCCTGCACCCATTATAAACTGACTACCACAGTAAGCATCTAGACTCCTCAGCTGTAAGCTCAAATGTTTTTTGATCAATGCAGTCAGTTACACCAGTATTTCTCCTAACTTTAGTTGTTAAGCACTTTATATGGAGTTTGCCTTGTTAATGTTACTCCTATCATTATATTCTACAAAGTCTCCTCATTGTGAAATATCCAGCAGTTGCAGGCATGATTTCTGCTATGACCAGACCCACTACGTAAGCATAAATAACTCAGCCACTTCACTTGGATGAAAAGCTCCCACTATTGCAGATCTATAAGTTAAATACTCCAAGACATTGGTTCATGGTTTTTAACCTGCACTTTCAGTATTTACCTCTTTTTTGTTTTTTCTTTCTTTTACCTGCATGGGGAGACACAGTGCTTACCTCTATATGCTTTGCTTCATCCTATCAGTTTTCCTGAATTAACATTTTAAACACTTGGCAATTCCTAATAAATTAACTGGTTCACACATATAAACTCTTACACATTTTAGGTGCTGGATAAACACATCACTGGGCACATTTTTGGCAGGTAAGGATAGAAAAATCACTAGGGCCTCAGCACTGATCACCAGATGATATATGTTTAAATAATGA
Task1_train_27583
Assess the clinical impact of this variant on gene RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Glycogen storage disease, type IV
CTTTGCACACAATAAAATGTACTCATTGTAAGTATGCAGTCAGGTAAATTTTAACAAATGTAACTCTCGTAACCACCAACCACTGTTACATATAACATAGGCATGATTTCTGCCTCATTGTAACCAGCATGGATACAATCGCTTTAGCTTTTGTTATTTTGCTATAGAATTTTTCTAAAGATTATTACAAATCTCAATAGCACATATACTGTTTATACCTCTTAGTTCTAGTTTCTCAGTTTGTAATACTCCTTCAAGGAATGTTTTGCATGGTGTATTCTTTTTTTTTTTTTTTTTTGAGACGAAGTCTCACTCTGTTGCCTAAGCTGGAGTACATTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAGATGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAAGCTAGTCTTAAACTCCTGACCTCGTGATGCGCCCGCCTCGGCCTCCCAGAGTGTTCAGATTACAGGCGTGATCCATCATTCCTGGCTGGTGCATCTTATATATTATTTTCTTGGGATAAAGTTAAAGAAGTGGGATGGGTACCAAAGGGTCAGAAAAGTTTGGGATGGTTGAAACGTTATTGCCACATTGCTTTCTCAGTGCTACGTACTAGCTTACTAGTTTGTTTAATTTTTATTTTTTATTTTTGCGGGTACATAGTTGGTGTATATATTTCTGGGGTACATGAAATACTTTGATACAGGCATGCAATGCGTAATAATCACATCATGGAGAATGGGGAATCCATCCCCTCAAGCATTTATCCTTTGTGTTACAGACAATCCAGTTAACCTCTCTTAGTTATTATAAAATGTACAATTAAATTATTGGCTACAGTCTGTTGTGCTATCAAATACTAGGTCTTACTCTATTTTTTTGTACCAATTTGCCATCCCCACTCCCCTGCCACGCCTCACTACCCTTTGCAGCCTCTGGTAAGCATCCTTTTACTGTCTGTCCTCATTAGTTCAGTTGTTTCGATTTTTAGCACCTGCAAATAAGTGAGAACATGTAATGTTTGTTTGTCTGTGCCTGGCTTATTTCATTTAACATAATGACCTCCAGTTCTTCCATGTTGCTGTAAATGGCAGGATTGCATTCTTTTTTGTGGCCGAATAGTACTCCATTGTATATATGTGCCACGTTTTCTTTATAGGATACTAGTTTAATCATGTCTTTCCCAACATTGCTTATTATTTATGTTCTTTTCTTTATTGTGAGAAAATAGACATAACATTTACCATTTTAACCAGTTTTTAGTATACAGTTCAGTGGCATTAAGTACATTCACACTGTTGTGCAACCATCACCACCATCCACCTCCAGAACTTTTAGAAATTCCCCCCACTTTCTTTCACTTTCTTTTTACTTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGCTAGGATTTCATTCTGTCACCCAGGTTGGAGTGCAGTGCATCAGTCATGGCTCACTGCATCCTTGACCTTCTGGGCTCAAGCGATCCTCACAACCCAGCCTCCCAAGCAGCTGGGACTACAGGTGTGAGCACCACACCTGGTTATTTTATTTTTTAAAAAAATTTTTTGGTAGAGATGAGGTCTCACTGTATTTCTCAGGCTGGTCTGAAACTCTTGGCCTCAAGGAATCCTCCTGCCTTGACTGACCTCCCAAAGTGCTGGGATTACAAGTGTAAGCCACCACACCTGGCCTAAAATCCACTCTTTGAATGGAGTTTTTCAACACTATGAGGATTACATGAAGAAAAGAGCCTGGGGCTGGGTTGGAGTTTCTGGGCTGGGGGCTTTCTGGAGGGTATTTAGTGGTCAAGGGTCATATGTCAGGTGTTCTGAATCCTGAGCAGCAAGGACATGGTGTGTTGGCAGCTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATTGCTGAAAACCGCAGTGCCTTCAGCTACCATTGCAAGACCCCAGATTGCAAGGGATGGTGCTTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTTTCCACGTCAACTGCCTGCTCTGCAAGGTGGGGCCTGCAGGGACTCCCCCCACCTAGTCACTGTCATCTTGCCTGGAGCTCACCACACTGCAGTGCGTGTTCTCCTGGGAAGGGAGCTGTGACACTGGCCTGCTGGTCATGACTTAGAGCTACATGTCAGTGGGAGAGTGTGGCTTGAGCCTGAACTGAGCCCTGGCCCCACAGACGGAGTCCCAGCCCCAGCCCCAGATGGAGCCTCAAACCTAGGCAGCCCTGGTTCACAATGGAGCCCCGACCCTGGGCCAGTCTGACCCCAGTCACAGACTGAATCCCAGTCCCACATTGAGCCCTGATCCCATCCAAGTCCATAGACTTGGCCTCTGACCAAACCTGACCCTGCACTTGTCACTTAAGGTGGTCCCATATTCAGCTCAGACCCTGAACCGAGCTCTGACCCTGGCTTCTGACTGAATCTGTGACAGACTAAGGCCTGACCCTGGCCCTATACCACGTCTCCACCCGTGTCCTCAACTGAGTGCTGACCCCAAACCTAGACAGCCCTACCTGATCCTTCCCCCAGGCCTGTCCCCGCCGCTTCATCTCAAAAGTTGAAGGTGAGGAGCCGGTAAACAGGTCTGGAGCCTGGTCTCAGACTCAGCCTGAGCAAGCTCAGTCTGGGGTCATTGGGCCTGTAACCCCGGGCAGGCCCTTGTTAGGGATGCAGGGTCTCACCCTAGGGGTATAAGGGATTTCTGTGCCCATCAGAACTTAAATAAGCTGGGTGTGGCAGCACATGTCAGTGGTCCCAGCTACTCAGGAGGCTGAGGTATATTTTGCTGTTAGCATATGTGATGACCTTGACTTCACCTCCCTGGCGCCAATATCCTCTTCTGTAAAATGGCTTATGCATTACAAAGTGAGGTCCTGCCAGTGACTACACCTAGAGGCATTAAGTGCCTTTGTGGACTCCTGCCCTGCACCTCACCTCTCCCAGCTTCTTAACCCCCTGAGGAACCTTCTTACCTTGAGTCCCTCACCCGCTACAGGCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTGCGGGCTCAGAACGATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAGGTGAGGCTGGGACAGGGCCGAGGCCTAGGGATTTTAAGTTCTGGGATCCAGGTGGGGGCTGGGGGCTTCCCAGTAAGGGCTGTGCTCACACATCCCTGGAGGCTCTGACCTCCCTTCTGGCTGTCACTCCCATCCGGAGGTGGGACTTAGGCCGAATGGTCATGTCAGGAAGAGCGTCTGGGTGGAGGGTGGAGACCACAGGAATGAAGAGGGGGTTGCTGGATGGAGCCTGGCCTGGCAGAGCCACACAGGAGAGACTCCACAGCTCTAGAGGGTCACCACCTTCTCCCTGCCATGGGGAGGGGCCAGGCTGGGTGACTGCCCCAGCCCCGCCCCAGGGCCAGCACCTGCCCCACTCCAGGTGATGCTGCAGCAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTACAGAAGAAGGACGGCTGCGACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGCTGGGGCCCTGGGGTGAGTCTTTGCTCGTGGTGGTGTGGAGAGGGTGCCCTTGTGGGCTTTGCCTTAGAGGAGGGCTGGGAAAACTACAGCCCATGGGCCATATCCAACCCAGCACCTGAATTTGTACAGCTCCCGAGGTAAGAATTTTTTTTTTTTTTTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGCACAATCTCAGCTCACTGCAACCTCTGCCTTCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAGTTTTGTATTTTTAGGAGAGACGGGGTTTCTCCATGTTGGTCAGACTGGT
CTTTGCACACAATAAAATGTACTCATTGTAAGTATGCAGTCAGGTAAATTTTAACAAATGTAACTCTCGTAACCACCAACCACTGTTACATATAACATAGGCATGATTTCTGCCTCATTGTAACCAGCATGGATACAATCGCTTTAGCTTTTGTTATTTTGCTATAGAATTTTTCTAAAGATTATTACAAATCTCAATAGCACATATACTGTTTATACCTCTTAGTTCTAGTTTCTCAGTTTGTAATACTCCTTCAAGGAATGTTTTGCATGGTGTATTCTTTTTTTTTTTTTTTTTTGAGACGAAGTCTCACTCTGTTGCCTAAGCTGGAGTACATTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAGATGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAAGCTAGTCTTAAACTCCTGACCTCGTGATGCGCCCGCCTCGGCCTCCCAGAGTGTTCAGATTACAGGCGTGATCCATCATTCCTGGCTGGTGCATCTTATATATTATTTTCTTGGGATAAAGTTAAAGAAGTGGGATGGGTACCAAAGGGTCAGAAAAGTTTGGGATGGTTGAAACGTTATTGCCACATTGCTTTCTCAGTGCTACGTACTAGCTTACTAGTTTGTTTAATTTTTATTTTTTATTTTTGCGGGTACATAGTTGGTGTATATATTTCTGGGGTACATGAAATACTTTGATACAGGCATGCAATGCGTAATAATCACATCATGGAGAATGGGGAATCCATCCCCTCAAGCATTTATCCTTTGTGTTACAGACAATCCAGTTAACCTCTCTTAGTTATTATAAAATGTACAATTAAATTATTGGCTACAGTCTGTTGTGCTATCAAATACTAGGTCTTACTCTATTTTTTTGTACCAATTTGCCATCCCCACTCCCCTGCCACGCCTCACTACCCTTTGCAGCCTCTGGTAAGCATCCTTTTACTGTCTGTCCTCATTAGTTCAGTTGTTTCGATTTTTAGCACCTGCAAATAAGTGAGAACATGTAATGTTTGTTTGTCTGTGCCTGGCTTATTTCATTTAACATAATGACCTCCAGTTCTTCCATGTTGCTGTAAATGGCAGGATTGCATTCTTTTTTGTGGCCGAATAGTACTCCATTGTATATATGTGCCACGTTTTCTTTATAGGATACTAGTTTAATCATGTCTTTCCCAACATTGCTTATTATTTATGTTCTTTTCTTTATTGTGAGAAAATAGACATAACATTTACCATTTTAACCAGTTTTTAGTATACAGTTCAGTGGCATTAAGTACATTCACACTGTTGTGCAACCATCACCACCATCCACCTCCAGAACTTTTAGAAATTCCCCCCACTTTCTTTCACTTTCTTTTTACTTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGCTAGGATTTCATTCTGTCACCCAGGTTGGAGTGCAGTGCATCAGTCATGGCTCACTGCATCCTTGACCTTCTGGGCTCAAGCGATCCTCACAACCCAGCCTCCCAAGCAGCTGGGACTACAGGTGTGAGCACCACACCTGGTTATTTTATTTTTTAAAAAAATTTTTTGGTAGAGATGAGGTCTCACTGTATTTCTCAGGCTGGTCTGAAACTCTTGGCCTCAAGGAATCCTCCTGCCTTGACTGACCTCCCAAAGTGCTGGGATTACAAGTGTAAGCCACCACACCTGGCCTAAAATCCACTCTTTGAATGGAGTTTTTCAACACTATGAGGATTACATGAAGAAAAGAGCCTGGGGCTGGGTTGGAGTTTCTGGGCTGGGGGCTTTCTGGAGGGTATTTAGTGGTCAAGGGTCATATGTCAGGTGTTCTGAATCCTGAGCAGCAAGGACATGGTGTGTTGGCAGCTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATTGCTGAAAACCGCAGTGCCTTCAGCTACCATTTCAAGACCCCAGATTGCAAGGGATGGTGCTTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTTTCCACGTCAACTGCCTGCTCTGCAAGGTGGGGCCTGCAGGGACTCCCCCCACCTAGTCACTGTCATCTTGCCTGGAGCTCACCACACTGCAGTGCGTGTTCTCCTGGGAAGGGAGCTGTGACACTGGCCTGCTGGTCATGACTTAGAGCTACATGTCAGTGGGAGAGTGTGGCTTGAGCCTGAACTGAGCCCTGGCCCCACAGACGGAGTCCCAGCCCCAGCCCCAGATGGAGCCTCAAACCTAGGCAGCCCTGGTTCACAATGGAGCCCCGACCCTGGGCCAGTCTGACCCCAGTCACAGACTGAATCCCAGTCCCACATTGAGCCCTGATCCCATCCAAGTCCATAGACTTGGCCTCTGACCAAACCTGACCCTGCACTTGTCACTTAAGGTGGTCCCATATTCAGCTCAGACCCTGAACCGAGCTCTGACCCTGGCTTCTGACTGAATCTGTGACAGACTAAGGCCTGACCCTGGCCCTATACCACGTCTCCACCCGTGTCCTCAACTGAGTGCTGACCCCAAACCTAGACAGCCCTACCTGATCCTTCCCCCAGGCCTGTCCCCGCCGCTTCATCTCAAAAGTTGAAGGTGAGGAGCCGGTAAACAGGTCTGGAGCCTGGTCTCAGACTCAGCCTGAGCAAGCTCAGTCTGGGGTCATTGGGCCTGTAACCCCGGGCAGGCCCTTGTTAGGGATGCAGGGTCTCACCCTAGGGGTATAAGGGATTTCTGTGCCCATCAGAACTTAAATAAGCTGGGTGTGGCAGCACATGTCAGTGGTCCCAGCTACTCAGGAGGCTGAGGTATATTTTGCTGTTAGCATATGTGATGACCTTGACTTCACCTCCCTGGCGCCAATATCCTCTTCTGTAAAATGGCTTATGCATTACAAAGTGAGGTCCTGCCAGTGACTACACCTAGAGGCATTAAGTGCCTTTGTGGACTCCTGCCCTGCACCTCACCTCTCCCAGCTTCTTAACCCCCTGAGGAACCTTCTTACCTTGAGTCCCTCACCCGCTACAGGCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTGCGGGCTCAGAACGATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAGGTGAGGCTGGGACAGGGCCGAGGCCTAGGGATTTTAAGTTCTGGGATCCAGGTGGGGGCTGGGGGCTTCCCAGTAAGGGCTGTGCTCACACATCCCTGGAGGCTCTGACCTCCCTTCTGGCTGTCACTCCCATCCGGAGGTGGGACTTAGGCCGAATGGTCATGTCAGGAAGAGCGTCTGGGTGGAGGGTGGAGACCACAGGAATGAAGAGGGGGTTGCTGGATGGAGCCTGGCCTGGCAGAGCCACACAGGAGAGACTCCACAGCTCTAGAGGGTCACCACCTTCTCCCTGCCATGGGGAGGGGCCAGGCTGGGTGACTGCCCCAGCCCCGCCCCAGGGCCAGCACCTGCCCCACTCCAGGTGATGCTGCAGCAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTACAGAAGAAGGACGGCTGCGACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGCTGGGGCCCTGGGGTGAGTCTTTGCTCGTGGTGGTGTGGAGAGGGTGCCCTTGTGGGCTTTGCCTTAGAGGAGGGCTGGGAAAACTACAGCCCATGGGCCATATCCAACCCAGCACCTGAATTTGTACAGCTCCCGAGGTAAGAATTTTTTTTTTTTTTTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGCACAATCTCAGCTCACTGCAACCTCTGCCTTCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAGTTTTGTATTTTTAGGAGAGACGGGGTTTCTCCATGTTGGTCAGACTGGT
Task1_train_27584
Here is a mutation in RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Polyglucosan body myopathy type 1
CTTTGCACACAATAAAATGTACTCATTGTAAGTATGCAGTCAGGTAAATTTTAACAAATGTAACTCTCGTAACCACCAACCACTGTTACATATAACATAGGCATGATTTCTGCCTCATTGTAACCAGCATGGATACAATCGCTTTAGCTTTTGTTATTTTGCTATAGAATTTTTCTAAAGATTATTACAAATCTCAATAGCACATATACTGTTTATACCTCTTAGTTCTAGTTTCTCAGTTTGTAATACTCCTTCAAGGAATGTTTTGCATGGTGTATTCTTTTTTTTTTTTTTTTTTGAGACGAAGTCTCACTCTGTTGCCTAAGCTGGAGTACATTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAGATGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAAGCTAGTCTTAAACTCCTGACCTCGTGATGCGCCCGCCTCGGCCTCCCAGAGTGTTCAGATTACAGGCGTGATCCATCATTCCTGGCTGGTGCATCTTATATATTATTTTCTTGGGATAAAGTTAAAGAAGTGGGATGGGTACCAAAGGGTCAGAAAAGTTTGGGATGGTTGAAACGTTATTGCCACATTGCTTTCTCAGTGCTACGTACTAGCTTACTAGTTTGTTTAATTTTTATTTTTTATTTTTGCGGGTACATAGTTGGTGTATATATTTCTGGGGTACATGAAATACTTTGATACAGGCATGCAATGCGTAATAATCACATCATGGAGAATGGGGAATCCATCCCCTCAAGCATTTATCCTTTGTGTTACAGACAATCCAGTTAACCTCTCTTAGTTATTATAAAATGTACAATTAAATTATTGGCTACAGTCTGTTGTGCTATCAAATACTAGGTCTTACTCTATTTTTTTGTACCAATTTGCCATCCCCACTCCCCTGCCACGCCTCACTACCCTTTGCAGCCTCTGGTAAGCATCCTTTTACTGTCTGTCCTCATTAGTTCAGTTGTTTCGATTTTTAGCACCTGCAAATAAGTGAGAACATGTAATGTTTGTTTGTCTGTGCCTGGCTTATTTCATTTAACATAATGACCTCCAGTTCTTCCATGTTGCTGTAAATGGCAGGATTGCATTCTTTTTTGTGGCCGAATAGTACTCCATTGTATATATGTGCCACGTTTTCTTTATAGGATACTAGTTTAATCATGTCTTTCCCAACATTGCTTATTATTTATGTTCTTTTCTTTATTGTGAGAAAATAGACATAACATTTACCATTTTAACCAGTTTTTAGTATACAGTTCAGTGGCATTAAGTACATTCACACTGTTGTGCAACCATCACCACCATCCACCTCCAGAACTTTTAGAAATTCCCCCCACTTTCTTTCACTTTCTTTTTACTTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGCTAGGATTTCATTCTGTCACCCAGGTTGGAGTGCAGTGCATCAGTCATGGCTCACTGCATCCTTGACCTTCTGGGCTCAAGCGATCCTCACAACCCAGCCTCCCAAGCAGCTGGGACTACAGGTGTGAGCACCACACCTGGTTATTTTATTTTTTAAAAAAATTTTTTGGTAGAGATGAGGTCTCACTGTATTTCTCAGGCTGGTCTGAAACTCTTGGCCTCAAGGAATCCTCCTGCCTTGACTGACCTCCCAAAGTGCTGGGATTACAAGTGTAAGCCACCACACCTGGCCTAAAATCCACTCTTTGAATGGAGTTTTTCAACACTATGAGGATTACATGAAGAAAAGAGCCTGGGGCTGGGTTGGAGTTTCTGGGCTGGGGGCTTTCTGGAGGGTATTTAGTGGTCAAGGGTCATATGTCAGGTGTTCTGAATCCTGAGCAGCAAGGACATGGTGTGTTGGCAGCTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATTGCTGAAAACCGCAGTGCCTTCAGCTACCATTGCAAGACCCCAGATTGCAAGGGATGGTGCTTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTTTCCACGTCAACTGCCTGCTCTGCAAGGTGGGGCCTGCAGGGACTCCCCCCACCTAGTCACTGTCATCTTGCCTGGAGCTCACCACACTGCAGTGCGTGTTCTCCTGGGAAGGGAGCTGTGACACTGGCCTGCTGGTCATGACTTAGAGCTACATGTCAGTGGGAGAGTGTGGCTTGAGCCTGAACTGAGCCCTGGCCCCACAGACGGAGTCCCAGCCCCAGCCCCAGATGGAGCCTCAAACCTAGGCAGCCCTGGTTCACAATGGAGCCCCGACCCTGGGCCAGTCTGACCCCAGTCACAGACTGAATCCCAGTCCCACATTGAGCCCTGATCCCATCCAAGTCCATAGACTTGGCCTCTGACCAAACCTGACCCTGCACTTGTCACTTAAGGTGGTCCCATATTCAGCTCAGACCCTGAACCGAGCTCTGACCCTGGCTTCTGACTGAATCTGTGACAGACTAAGGCCTGACCCTGGCCCTATACCACGTCTCCACCCGTGTCCTCAACTGAGTGCTGACCCCAAACCTAGACAGCCCTACCTGATCCTTCCCCCAGGCCTGTCCCCGCCGCTTCATCTCAAAAGTTGAAGGTGAGGAGCCGGTAAACAGGTCTGGAGCCTGGTCTCAGACTCAGCCTGAGCAAGCTCAGTCTGGGGTCATTGGGCCTGTAACCCCGGGCAGGCCCTTGTTAGGGATGCAGGGTCTCACCCTAGGGGTATAAGGGATTTCTGTGCCCATCAGAACTTAAATAAGCTGGGTGTGGCAGCACATGTCAGTGGTCCCAGCTACTCAGGAGGCTGAGGTATATTTTGCTGTTAGCATATGTGATGACCTTGACTTCACCTCCCTGGCGCCAATATCCTCTTCTGTAAAATGGCTTATGCATTACAAAGTGAGGTCCTGCCAGTGACTACACCTAGAGGCATTAAGTGCCTTTGTGGACTCCTGCCCTGCACCTCACCTCTCCCAGCTTCTTAACCCCCTGAGGAACCTTCTTACCTTGAGTCCCTCACCCGCTACAGGCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTGCGGGCTCAGAACGATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAGGTGAGGCTGGGACAGGGCCGAGGCCTAGGGATTTTAAGTTCTGGGATCCAGGTGGGGGCTGGGGGCTTCCCAGTAAGGGCTGTGCTCACACATCCCTGGAGGCTCTGACCTCCCTTCTGGCTGTCACTCCCATCCGGAGGTGGGACTTAGGCCGAATGGTCATGTCAGGAAGAGCGTCTGGGTGGAGGGTGGAGACCACAGGAATGAAGAGGGGGTTGCTGGATGGAGCCTGGCCTGGCAGAGCCACACAGGAGAGACTCCACAGCTCTAGAGGGTCACCACCTTCTCCCTGCCATGGGGAGGGGCCAGGCTGGGTGACTGCCCCAGCCCCGCCCCAGGGCCAGCACCTGCCCCACTCCAGGTGATGCTGCAGCAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTACAGAAGAAGGACGGCTGCGACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGCTGGGGCCCTGGGGTGAGTCTTTGCTCGTGGTGGTGTGGAGAGGGTGCCCTTGTGGGCTTTGCCTTAGAGGAGGGCTGGGAAAACTACAGCCCATGGGCCATATCCAACCCAGCACCTGAATTTGTACAGCTCCCGAGGTAAGAATTTTTTTTTTTTTTTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGCACAATCTCAGCTCACTGCAACCTCTGCCTTCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAGTTTTGTATTTTTAGGAGAGACGGGGTTTCTCCATGTTGGTCAGACTGGT
CTTTGCACACAATAAAATGTACTCATTGTAAGTATGCAGTCAGGTAAATTTTAACAAATGTAACTCTCGTAACCACCAACCACTGTTACATATAACATAGGCATGATTTCTGCCTCATTGTAACCAGCATGGATACAATCGCTTTAGCTTTTGTTATTTTGCTATAGAATTTTTCTAAAGATTATTACAAATCTCAATAGCACATATACTGTTTATACCTCTTAGTTCTAGTTTCTCAGTTTGTAATACTCCTTCAAGGAATGTTTTGCATGGTGTATTCTTTTTTTTTTTTTTTTTTGAGACGAAGTCTCACTCTGTTGCCTAAGCTGGAGTACATTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAGATGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAAGCTAGTCTTAAACTCCTGACCTCGTGATGCGCCCGCCTCGGCCTCCCAGAGTGTTCAGATTACAGGCGTGATCCATCATTCCTGGCTGGTGCATCTTATATATTATTTTCTTGGGATAAAGTTAAAGAAGTGGGATGGGTACCAAAGGGTCAGAAAAGTTTGGGATGGTTGAAACGTTATTGCCACATTGCTTTCTCAGTGCTACGTACTAGCTTACTAGTTTGTTTAATTTTTATTTTTTATTTTTGCGGGTACATAGTTGGTGTATATATTTCTGGGGTACATGAAATACTTTGATACAGGCATGCAATGCGTAATAATCACATCATGGAGAATGGGGAATCCATCCCCTCAAGCATTTATCCTTTGTGTTACAGACAATCCAGTTAACCTCTCTTAGTTATTATAAAATGTACAATTAAATTATTGGCTACAGTCTGTTGTGCTATCAAATACTAGGTCTTACTCTATTTTTTTGTACCAATTTGCCATCCCCACTCCCCTGCCACGCCTCACTACCCTTTGCAGCCTCTGGTAAGCATCCTTTTACTGTCTGTCCTCATTAGTTCAGTTGTTTCGATTTTTAGCACCTGCAAATAAGTGAGAACATGTAATGTTTGTTTGTCTGTGCCTGGCTTATTTCATTTAACATAATGACCTCCAGTTCTTCCATGTTGCTGTAAATGGCAGGATTGCATTCTTTTTTGTGGCCGAATAGTACTCCATTGTATATATGTGCCACGTTTTCTTTATAGGATACTAGTTTAATCATGTCTTTCCCAACATTGCTTATTATTTATGTTCTTTTCTTTATTGTGAGAAAATAGACATAACATTTACCATTTTAACCAGTTTTTAGTATACAGTTCAGTGGCATTAAGTACATTCACACTGTTGTGCAACCATCACCACCATCCACCTCCAGAACTTTTAGAAATTCCCCCCACTTTCTTTCACTTTCTTTTTACTTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGCTAGGATTTCATTCTGTCACCCAGGTTGGAGTGCAGTGCATCAGTCATGGCTCACTGCATCCTTGACCTTCTGGGCTCAAGCGATCCTCACAACCCAGCCTCCCAAGCAGCTGGGACTACAGGTGTGAGCACCACACCTGGTTATTTTATTTTTTAAAAAAATTTTTTGGTAGAGATGAGGTCTCACTGTATTTCTCAGGCTGGTCTGAAACTCTTGGCCTCAAGGAATCCTCCTGCCTTGACTGACCTCCCAAAGTGCTGGGATTACAAGTGTAAGCCACCACACCTGGCCTAAAATCCACTCTTTGAATGGAGTTTTTCAACACTATGAGGATTACATGAAGAAAAGAGCCTGGGGCTGGGTTGGAGTTTCTGGGCTGGGGGCTTTCTGGAGGGTATTTAGTGGTCAAGGGTCATATGTCAGGTGTTCTGAATCCTGAGCAGCAAGGACATGGTGTGTTGGCAGCTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATTGCTGAAAACCGCAGTGCCTTCAGCTACCATTTCAAGACCCCAGATTGCAAGGGATGGTGCTTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTTTCCACGTCAACTGCCTGCTCTGCAAGGTGGGGCCTGCAGGGACTCCCCCCACCTAGTCACTGTCATCTTGCCTGGAGCTCACCACACTGCAGTGCGTGTTCTCCTGGGAAGGGAGCTGTGACACTGGCCTGCTGGTCATGACTTAGAGCTACATGTCAGTGGGAGAGTGTGGCTTGAGCCTGAACTGAGCCCTGGCCCCACAGACGGAGTCCCAGCCCCAGCCCCAGATGGAGCCTCAAACCTAGGCAGCCCTGGTTCACAATGGAGCCCCGACCCTGGGCCAGTCTGACCCCAGTCACAGACTGAATCCCAGTCCCACATTGAGCCCTGATCCCATCCAAGTCCATAGACTTGGCCTCTGACCAAACCTGACCCTGCACTTGTCACTTAAGGTGGTCCCATATTCAGCTCAGACCCTGAACCGAGCTCTGACCCTGGCTTCTGACTGAATCTGTGACAGACTAAGGCCTGACCCTGGCCCTATACCACGTCTCCACCCGTGTCCTCAACTGAGTGCTGACCCCAAACCTAGACAGCCCTACCTGATCCTTCCCCCAGGCCTGTCCCCGCCGCTTCATCTCAAAAGTTGAAGGTGAGGAGCCGGTAAACAGGTCTGGAGCCTGGTCTCAGACTCAGCCTGAGCAAGCTCAGTCTGGGGTCATTGGGCCTGTAACCCCGGGCAGGCCCTTGTTAGGGATGCAGGGTCTCACCCTAGGGGTATAAGGGATTTCTGTGCCCATCAGAACTTAAATAAGCTGGGTGTGGCAGCACATGTCAGTGGTCCCAGCTACTCAGGAGGCTGAGGTATATTTTGCTGTTAGCATATGTGATGACCTTGACTTCACCTCCCTGGCGCCAATATCCTCTTCTGTAAAATGGCTTATGCATTACAAAGTGAGGTCCTGCCAGTGACTACACCTAGAGGCATTAAGTGCCTTTGTGGACTCCTGCCCTGCACCTCACCTCTCCCAGCTTCTTAACCCCCTGAGGAACCTTCTTACCTTGAGTCCCTCACCCGCTACAGGCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTGCGGGCTCAGAACGATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAGGTGAGGCTGGGACAGGGCCGAGGCCTAGGGATTTTAAGTTCTGGGATCCAGGTGGGGGCTGGGGGCTTCCCAGTAAGGGCTGTGCTCACACATCCCTGGAGGCTCTGACCTCCCTTCTGGCTGTCACTCCCATCCGGAGGTGGGACTTAGGCCGAATGGTCATGTCAGGAAGAGCGTCTGGGTGGAGGGTGGAGACCACAGGAATGAAGAGGGGGTTGCTGGATGGAGCCTGGCCTGGCAGAGCCACACAGGAGAGACTCCACAGCTCTAGAGGGTCACCACCTTCTCCCTGCCATGGGGAGGGGCCAGGCTGGGTGACTGCCCCAGCCCCGCCCCAGGGCCAGCACCTGCCCCACTCCAGGTGATGCTGCAGCAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTACAGAAGAAGGACGGCTGCGACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGCTGGGGCCCTGGGGTGAGTCTTTGCTCGTGGTGGTGTGGAGAGGGTGCCCTTGTGGGCTTTGCCTTAGAGGAGGGCTGGGAAAACTACAGCCCATGGGCCATATCCAACCCAGCACCTGAATTTGTACAGCTCCCGAGGTAAGAATTTTTTTTTTTTTTTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGCACAATCTCAGCTCACTGCAACCTCTGCCTTCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAGTTTTGTATTTTTAGGAGAGACGGGGTTTCTCCATGTTGGTCAGACTGGT
Task1_train_27585
Here is a variant affecting CSNK2A1 (casein kinase 2 alpha 1) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; not provided
AAGTGACCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCCTGCATCTTGCGTTTTAAATTTCACATTATTATATTGGAGTTGGAGATCTAACAGAACATGAAACTCTTATTCTACTGGCTGCACCACATTCCATTAAATGGATATACCATAACTGATTTAACCAGTTTCCTACTGATAGCTATTCTCAATGTTTTGTTATTACAAATAAGGCTACAAGTAAGTTTGGATATACATTACTCTGTACAGAGGTAGGATACTCAAGGGGTAAATTCTAGAAGGCAGTTAGTTCTTTTCTTAAAAAAGAGGAGGGCAACAGCAATTATTTGAGGATATGTAAGTAAATGCCTTCACTACCAGATATGCACCCACTTGGATGTTGCCTATATGTATAATTCTTATGCTATGTGCCTGTAGTTCCTTTGGAATAACTGGGTACTCTATAAAAATTCACTGTGCGTCACAATGATCCAATAATGGAAAACCATTTTACTTATGTTTTTACAACTGATAGGCACTCTATAGTTGCTCTGGCACATGTCACGGAACTGTCCTTGTACACATACACACCTATGTATAAACCCCACCTCTATACCCCATTTCTTAACATTGTTTCTAAGGGCCATGTAACTACTGTCATTTCAAACTATAAGATGAAATGGTGTATTTTTCCTTTTCATGGCTTGGCACTTTCAAGCCCCTATGCCAAAAATTTTCAGCCAGGAATGCTGAGATTCTAGCCTAGAAGGGGATACCCTACTCAAGACAGTATCACTAAAGTATACCAAATGTCAAGCATGCTGAAACCTGGTTAAAAAAAAGTCACAAGGCCACCAGTACGGAGAAGAGAAGGTATACAAGAAATCAGACCACAAAGCTAAGAACAGTAATTGACTTCCACATTTTTTTAAAGAAAATTTACCAATGAACTGACCTGACATCATATTGGCGCTGCTGACGGGCGTACTGCCCCCTGGCATGCTAGATGAACCCATTCGAGCCTGGTCCTTCACAACAGTGTCTAGAAAAGAGACAAAAAGGCTAGGTTCTGTTTTGCTTGAAAGATTAAACTAATGGTCTGGAAGCCTGAAAGCAGCCAGCTTCATTCTTTGCAATTTATATATACTCTACATTATTCCCCAAAGAACTTAAGGTGGCAATTGCCTTCACCATGAATTAGACAAGTGGTAAAAAGCAGAAATAGCTTTCCTATCAAACTGTGGTAAAAGCTAACCTTTCAATCAAATGGTAGAAAGATGAGGTAATTATTTATAGCAGAGCGAATTTAATGAAGCCCTGGTCCTGTTGAGGTTTAATGGAGACAAGACACTGTAACTCGGCAAAGACGGTAATATATTACCAGTGTGTCCACAGCCCAGTACCAAGTAGGCCAAAGCTATAGGTCCATGTAGCTTAGGGCTATGACCACATTCTCTATCCCAATCAGCCTATCTATCTGCTTCAGGTATTGGGCAAAAGTATAAATGATTCAGTACAAAACCATCACACCGAAGGAAAAATGTCATGTTGCAGCTAACATCACAGTGCAGATGGGGTGGGTCTCAGTGGTATTTTCACTTAGGATGGCACAGGTGGCTATACTCACAAATCTAAGTCAAGGTGTTCATACAATTTTAAGATTTGTAAGCCTCATTAGCTCTTTCCAACGAATGATTACTAGGGACAGGAAAGATACAGGGCTGTGTATTCTAATTCAACCATTCCAGACTGAGGCACTGAGAAGTGTCATCCTCACAGTATGAAAAGAGTTTATTTAGGAATGCTCTTGTGTCATGTATTCTGTTACAGAAGAATTCTTCCAGTAATTCTGCAATGTAGTTGCCATCACTATCCCCACTGGAAGAATCTGAGGCTCAGTGTGGGTGAATTAACTTTGCAGCAAGCTGACAGGAGCTGGGATTACGACTCTGTTCTATAGGACTCTGCGCCTGCACAAACTCTGTGGGCTAGATATCTGGACTCACAGAAATAGGGGTGCTCCATTGCCTCTCTTGCAGTAAGCCGTGACTGGTGGTCATATCGCAGCAGTTTGTCCAGGAAATCCAAGGCCTCAGGGCTGACAAGGTGCTGATTTTCACTGTGGACAAAGCGTTCCCATCGCTTTCGAGAGTGTCTGCAGGACCAAAAGAGGGCATGAGAAATGGGCCACGTGGGCACAGAAGCCCAACATTTCATTCCTACATTTTTCTTAGTGGCTAACAGCCCAGACAAAAGCAAAGAGGGATCCAAACTCAAGAGGGTAGTCTTGCACCGCTCTGCCACTGAGTGGGACAACAAAGCTAACTGGAGACTGGAAACAACATAGCTAGAGTGAAAAAAGACATCTGAGTCCTCTCAATTTTAAGAAACATAATTCAGGTTACTTGACAGGACGTGACCGCTTCTGTGTAGCAAGGAGGGTCAGGTGGCTGAGCTCACCAGGCCTATTTCCCATCCCCACACATATTCCTGGCATCTCTGCCAATTGGCCAGCAAAAGCCTTTGCATCAGGAAAGTCCATCTCCTCCTGTTGAGTGGTTAAGTGTATAAGTACTATATCTAGTCACTACTGTTAAGAGTCGGTTGTCTGCATATAGCCTTTTTTTTTTTTTTTTTGGAGACAGGGTCTCACTCTGTTGCCCAGACTGGAGCGCAGCCACATGTTCATTGCTCTCTGTAGCATTCCCTCCTGGGCTCAAGGGAAGCTCCTGCCTCAGCTTCCTAGTAGTCTGGACTACTGCCACACATCACCATGCATGGAGTCGAGGGTCTCATTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCCTCCTAAAGTTCTGGGATTACAGATATGAGCCACCGTGCCCAGCCTGCACATCAGTCTTAAAGCATGCATTTTCTACTTCAATTTCTTTCTCTTGGAGAGAGGTTTTTCACTTAAAGAAGCAAGGTAAATTTTGATTTTTGCCTCAACTGTAACCCTTCTACTAGAATCTACATTCATTTTGTAGGAATCCTCTAGCTATAACCCCTCCATCAGACTCCTGTAAGTTAATTTGAATAAAGGGCCATTCAATCCAATGCCTTTATCAGAGGCCTGCTCAATGCAGCATCCTGTGGCACTGGACCACTGACATCCTGACAGTGCTGGCAAAGAAAACATAACTATTTTGAAGATCCTAAGTGCCAGTTCACTCTCAAAGTGCTTAAGCCACAGATGCACATATTTTGTTTCATGACTTACCTGCCCAAGATATCATTGAAACGTGGATCTAATTCAATGTTGTATTTGTCAATATAGTCATATAAATCTTCTGTCCCCAGAACCTTGGCTATCCTCACCAACTAGTATTAAAGAAAGACAAAAACCCATATCACAAGCATATTATATTAACAAATCAACAATTAACAATGATTGAATTTACATAAACGGGTCATCATGTCTACAGGTATGAATGCTACCTCCTAACAGTTTAGACTTCAACTCAATGTGATAGTGTTAGAAAAAGCAAACTACTTTATAAACTGGTTTCTTCCTCTTGAAATGTCACCCTGGTGAACCCTTATTTTTCTCCCCTCAAAACCCAATTGAAGATGTCACTTCTTTTGGGAAGCTCCCATTGCACACTCAAACTACTCACCACTACTGCCTTTTGTGCCTTGTCCACATTTCTACTCTGAAGTTATGACTGTAACCTATTTTGTTGTATGTTTGACTCCCTTACAAGATCAGCTATGAACTATCTGAGGGGAAGAAAACTATTCTTTCTTTTTTCTGTATTCCTCAGTACTGCATGCACTTGATACAGAGTTATTGACTTTAATGGAATTCAGGTTGTATTCTTTGACTCATTAAAATTGGACATGGTGCTCAAAGGGAACAAGACAATGGTACCTTCCACAAGGTCCTAGAATCATTCCAGGTTCTTGTGAATGAAAGAGCCCTTTGATCTTCAAGGGGGAAGTGGAGTTAGTTTAAGAAACATCTGTAACTCAACCCATATAAAGAGCCAAAAGGATCACAGAAATACCACATATGGGCTCACATATTGGAGAAAACACCATATTGGAGATAAGGG
AAGTGACCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCCTGCATCTTGCGTTTTAAATTTCACATTATTATATTGGAGTTGGAGATCTAACAGAACATGAAACTCTTATTCTACTGGCTGCACCACATTCCATTAAATGGATATACCATAACTGATTTAACCAGTTTCCTACTGATAGCTATTCTCAATGTTTTGTTATTACAAATAAGGCTACAAGTAAGTTTGGATATACATTACTCTGTACAGAGGTAGGATACTCAAGGGGTAAATTCTAGAAGGCAGTTAGTTCTTTTCTTAAAAAAGAGGAGGGCAACAGCAATTATTTGAGGATATGTAAGTAAATGCCTTCACTACCAGATATGCACCCACTTGGATGTTGCCTATATGTATAATTCTTATGCTATGTGCCTGTAGTTCCTTTGGAATAACTGGGTACTCTATAAAAATTCACTGTGCGTCACAATGATCCAATAATGGAAAACCATTTTACTTATGTTTTTACAACTGATAGGCACTCTATAGTTGCTCTGGCACATGTCACGGAACTGTCCTTGTACACATACACACCTATGTATAAACCCCACCTCTATACCCCATTTCTTAACATTGTTTCTAAGGGCCATGTAACTACTGTCATTTCAAACTATAAGATGAAATGGTGTATTTTTCCTTTTCATGGCTTGGCACTTTCAAGCCCCTATGCCAAAAATTTTCAGCCAGGAATGCTGAGATTCTAGCCTAGAAGGGGATACCCTACTCAAGACAGTATCACTAAAGTATACCAAATGTCAAGCATGCTGAAACCTGGTTAAAAAAAAGTCACAAGGCCACCAGTACGGAGAAGAGAAGGTATACAAGAAATCAGACCACAAAGCTAAGAACAGTAATTGACTTCCACATTTTTTTAAAGAAAATTTACCAATGAACTGACCTGACATCATATTGGCGCTGCTGACGGGCGTACTGCCCCCTGGCATGCTAGATGAACCCATTCGAGCCTGGTCCTTCACAACAGTGTCTAGAAAAGAGACAAAAAGGCTAGGTTCTGTTTTGCTTGAAAGATTAAACTAATGGTCTGGAAGCCTGAAAGCAGCCAGCTTCATTCTTTGCAATTTATATATACTCTACATTATTCCCCAAAGAACTTAAGGTGGCAATTGCCTTCACCATGAATTAGACAAGTGGTAAAAAGCAGAAATAGCTTTCCTATCAAACTGTGGTAAAAGCTAACCTTTCAATCAAATGGTAGAAAGATGAGGTAATTATTTATAGCAGAGCGAATTTAATGAAGCCCTGGTCCTGTTGAGGTTTAATGGAGACAAGACACTGTAACTCGGCAAAGACGGTAATATATTACCAGTGTGTCCACAGCCCAGTACCAAGTAGGCCAAAGCTATAGGTCCATGTAGCTTAGGGCTATGACCACATTCTCTATCCCAATCAGCCTATCTATCTGCTTCAGGTATTGGGCAAAAGTATAAATGATTCAGTACAAAACCATCACACCGAAGGAAAAATGTCATGTTGCAGCTAACATCACAGTGCAGATGGGGTGGGTCTCAGTGGTATTTTCACTTAGGATGGCACAGGTGGCTATACTCACAAATCTAAGTCAAGGTGTTCATACAATTTTAAGATTTGTAAGCCTCATTAGCTCTTTCCAACGAATGATTACTAGGGACAGGAAAGATACAGGGCTGTGTATTCTAATTCAACCATTCCAGACTGAGGCACTGAGAAGTGTCATCCTCACAGTATGAAAAGAGTTTATTTAGGAATGCTCTTGTGTCATGTATTCTGTTACAGAAGAATTCTTCCAGTAATTCTGCAATGTAGTTGCCATCACTATCCCCACTGGAAGAATCTGAGGCTCAGTGTGGGTGAATTAACTTTGCAGCAAGCTGACAGGAGCTGGGATTACGACTCTGTTCTATAGGACTCTGCGCCTGCACAAACTCTGTGGGCTAGATATCTGGACTCACAGAAATAGGGGTGCTCCATTGCCTCTCTTGCAGTAAGCTGTGACTGGTGGTCATATCGCAGCAGTTTGTCCAGGAAATCCAAGGCCTCAGGGCTGACAAGGTGCTGATTTTCACTGTGGACAAAGCGTTCCCATCGCTTTCGAGAGTGTCTGCAGGACCAAAAGAGGGCATGAGAAATGGGCCACGTGGGCACAGAAGCCCAACATTTCATTCCTACATTTTTCTTAGTGGCTAACAGCCCAGACAAAAGCAAAGAGGGATCCAAACTCAAGAGGGTAGTCTTGCACCGCTCTGCCACTGAGTGGGACAACAAAGCTAACTGGAGACTGGAAACAACATAGCTAGAGTGAAAAAAGACATCTGAGTCCTCTCAATTTTAAGAAACATAATTCAGGTTACTTGACAGGACGTGACCGCTTCTGTGTAGCAAGGAGGGTCAGGTGGCTGAGCTCACCAGGCCTATTTCCCATCCCCACACATATTCCTGGCATCTCTGCCAATTGGCCAGCAAAAGCCTTTGCATCAGGAAAGTCCATCTCCTCCTGTTGAGTGGTTAAGTGTATAAGTACTATATCTAGTCACTACTGTTAAGAGTCGGTTGTCTGCATATAGCCTTTTTTTTTTTTTTTTTGGAGACAGGGTCTCACTCTGTTGCCCAGACTGGAGCGCAGCCACATGTTCATTGCTCTCTGTAGCATTCCCTCCTGGGCTCAAGGGAAGCTCCTGCCTCAGCTTCCTAGTAGTCTGGACTACTGCCACACATCACCATGCATGGAGTCGAGGGTCTCATTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCCTCCTAAAGTTCTGGGATTACAGATATGAGCCACCGTGCCCAGCCTGCACATCAGTCTTAAAGCATGCATTTTCTACTTCAATTTCTTTCTCTTGGAGAGAGGTTTTTCACTTAAAGAAGCAAGGTAAATTTTGATTTTTGCCTCAACTGTAACCCTTCTACTAGAATCTACATTCATTTTGTAGGAATCCTCTAGCTATAACCCCTCCATCAGACTCCTGTAAGTTAATTTGAATAAAGGGCCATTCAATCCAATGCCTTTATCAGAGGCCTGCTCAATGCAGCATCCTGTGGCACTGGACCACTGACATCCTGACAGTGCTGGCAAAGAAAACATAACTATTTTGAAGATCCTAAGTGCCAGTTCACTCTCAAAGTGCTTAAGCCACAGATGCACATATTTTGTTTCATGACTTACCTGCCCAAGATATCATTGAAACGTGGATCTAATTCAATGTTGTATTTGTCAATATAGTCATATAAATCTTCTGTCCCCAGAACCTTGGCTATCCTCACCAACTAGTATTAAAGAAAGACAAAAACCCATATCACAAGCATATTATATTAACAAATCAACAATTAACAATGATTGAATTTACATAAACGGGTCATCATGTCTACAGGTATGAATGCTACCTCCTAACAGTTTAGACTTCAACTCAATGTGATAGTGTTAGAAAAAGCAAACTACTTTATAAACTGGTTTCTTCCTCTTGAAATGTCACCCTGGTGAACCCTTATTTTTCTCCCCTCAAAACCCAATTGAAGATGTCACTTCTTTTGGGAAGCTCCCATTGCACACTCAAACTACTCACCACTACTGCCTTTTGTGCCTTGTCCACATTTCTACTCTGAAGTTATGACTGTAACCTATTTTGTTGTATGTTTGACTCCCTTACAAGATCAGCTATGAACTATCTGAGGGGAAGAAAACTATTCTTTCTTTTTTCTGTATTCCTCAGTACTGCATGCACTTGATACAGAGTTATTGACTTTAATGGAATTCAGGTTGTATTCTTTGACTCATTAAAATTGGACATGGTGCTCAAAGGGAACAAGACAATGGTACCTTCCACAAGGTCCTAGAATCATTCCAGGTTCTTGTGAATGAAAGAGCCCTTTGATCTTCAAGGGGGAAGTGGAGTTAGTTTAAGAAACATCTGTAACTCAACCCATATAAAGAGCCAAAAGGATCACAGAAATACCACATATGGGCTCACATATTGGAGAAAACACCATATTGGAGATAAGGG
Task1_train_27586
Here is a genetic alteration in CSNK2A1 (casein kinase 2 alpha 1) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
ACAGGCATGACCCACCGTGCCTGGCTAGTTTTTTCTTTTTTTTTTTTTTTTAGTTTTTTTTTTAGTTTTTTCTTTTATGCATCTTTCACTCGGTTTTAAAACAATTTTTACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGCAGGGGTGTGATCTTGGCTCATTGCAACTCAGCTTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCGCCCACCACCGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAGCTCCTGACCTTGTGATCCACTTGCCTTGGCCTTTCCAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCTGGCTCTTTTTTTTTTTTTTTTAAAGACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTCCAACTCCTGGGCTTAGGCCTCCTGAGTAGGTAGGATTACAGGCATACACCACTATGCTCAGCTAATATACATACTATTTTGAATTGTTTTCTTCACTTACATGAAAAAAAAAAAAAAAAAACCTCCAAATTGTTAGCCCATGGAGACCATCTAATGTGTATCATTAGTATTTTATTACATAAATGTTTCAGAATTCAATCTTTAATTTTCCTATAATAGGACAGTGTTCTGTTTTTCACAATTATTAGTAATACTGTAAAAACTATTTTTATGCATAAAATGCTTTTTGAACTCAGGGCTATAGCCTTAAGACCCCAAGAAAGAAATTCCTACAAGAACAAAAAGTCTGAAACTTTTAAAATCAACTGATAATAACCTGGAAAGACTGGGCATAAAAGATACTCCCAAGAAAACTTCAGATTTTTAAACACTTGGCAAATCTATTATTAATTTGGTTCCTTTCTCCTTTTTCTGTGAGGAGAAAGAAGGCTTTTTGGGGGAGCTGGGGAGAAGACCTTTTTATTTAGTATACAATTCAGAAGAACAAGAAAACATTCTTGAATTTACTCTGAAGATTGGTTAAACTTAGTTACAGGATGGGCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGGAGCCAAGGTGTGAGGATGGGTTGTGCCCAGGAGTTTGAGATCAGCCTGGGCAACATAGTGAGACTTTCTCTCTACACACAAAAAAATTAAAAATTAGCTGGGTGTGGTAGTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGCTGGAAGGATCACTTGAGCCCAGAAGTTCGGGGCTGCAGTCAGCTATGATCATGGCATTGCACTCCAGCCTGGGCAACAGAGCAAAACCCTGCCTCAGAAAACAAACAAAAGGCCGGGCGTGGTGGCTCACGAGGGCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCAGTCTCTACTAAAAATACAAGAAAAATTAGCTGGGGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAAGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAAACAGCTTACAATTCAAAACAGTTCTGGAACTGCTGATTATAGAACATATCTTTGGCTACTTTCCCTCAAGTCAGGATCAAATGCAAACCTATTCATATTCTACCGACATTATGACAATAAAAGTAATGTAAGTCATGGTACATGAATTAAGGTGATTTATATTTTACATTTCATATAAAAAGGACAGCTGTGAATGTGCATTAAGTGGCCTACCTAAATGCACAAAATGATACTTTTTTTTTTTTGGTAAATTATGTGCGAAATAAACACAGGATCAAAACTGTGCCTGCCCTTCTGTTCTTACCTGATAGTCTACAAGTAGCTCAGGACCTTTGAAGTATCGGGAAGCAACTCGGACATTATATTCTTGGCCAGGATGATAAAACTCAGCCAAACCCCAGTCTATTAGTCGTAGCTGAAAAAGAATAAACCATGAGCAATCTTATCTTTCTCTAAGCTACCCACACTGTGCCATTAGCATACTCTTGATAAAATATACCAGACACGTCACTCTTTACTGAAACCCCTCCACTGACTACTTATAGCCTTTAGAATGAAAATAAAACTTCTTAGCTTGACAAACCTCTTTCTCCATGATTTTGTTCCTGGAAGACACAATCTCACCTGTGCTTTTACAAATTTCTTAAACTGCTCAATGACTAAAATGTCCCTACTACCCAGCCTATAATCCTATTGGTAAGCATTTCCTTAACTTTTGGAATATTTAAGTCAGCTTCTCAATGAAGTCTGATCATTGCCTTCAGCCCCCTGAATTTTAGATATATTTCTTTAACAGAACCTAAACTCTTTATGTTTTCTACCTTTCTTTTTCAATATGGACGACAAGCTCCTTAGGGGTAGGGACTGTTTTATTCACCTTTGTAATTTTCAGAATTCAACATAATGCCTGGTATACAGGAGAAAAATGAATAAATATTTGCTGGATAGATGAAATAACAGAAAAGTCATACAATACAGCTTTTACCAAAATGCATCCTAAACATGGAAAAAGGGGTAAGAGGCAAGCTTATCTGCCCACTGTGCATAGCATGACCATGATCTGAAGTGCCAGCAGTAGGCCCTGAGGAAAAACATCGGACTGCTCTGGCACTAAGTTTACTGCCTGTATCTCAAAACTAAACCTTTGATTACTCCCTGCAAAAGCACCTCCACTCAGTCTCCCCCTGTTCGGTTAAAGGTGATACTCATCCTGTCATACAAGCCAAAACTTAAGATTCACCCTGGATTCTTGATTCCCTCAGACCTCACATTTAATCTGTCAAAAAATTCTGAAGGTTCTATCATATTGTGACCATTATCATCACCTCCACTGCCACTGCCCCGATCCAAGCCACCACCACCTCTTGTTTGATATATTGCCATAGCCCCTTCTCCTAACTGGTCTCACTGCTTTCACTCTTGCCCTCTAGTCTAAACAGTTTAATAAATACTAAATAGTTTAATAGTTATTTTAAAAATAATTAAATATTTAAAAATAAATATAAACAGCTTTTTAAAAGGATTGTTCAGGTTGCTATGGAGAGATTATAGATTCACAGGAAATTGCCAAAGTAGTAGAGATTCTCTGCACCCTTTACCCAGTTTCCCCTAATAGTAACATCTTACATAACTACAGTACAATATCAAAATCAAGAAACTGACACTGGCACAATTCAGAAAGATCTTATTCAGGTTTCACCAGTTTTACATGCACGCATGTGTTTGTGTGTGTGTTTCTATGCAATTTCATCACATATGTAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTCACCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCGTCATCTGCCTGCCTTGGCCTCCCAAAATGATTACAGGTGTGAGCCACTGCACCCAGCTTTTCCCCCCAATTTTAAGCTATTACAAATATAGTTGCATTCATATATAGGCTTTTGTGTGGACCTAAGATTTTG
ACAGGCATGACCCACCGTGCCTGGCTAGTTTTTTCTTTTTTTTTTTTTTTTAGTTTTTTTTTTAGTTTTTTCTTTTATGCATCTTTCACTCGGTTTTAAAACAATTTTTACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGCAGGGGTGTGATCTTGGCTCATTGCAACTCAGCTTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCGCCCACCACCGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAGCTCCTGACCTTGTGATCCACTTGCCTTGGCCTTTCCAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCTGGCTCTTTTTTTTTTTTTTTTAAAGACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTCCAACTCCTGGGCTTAGGCCTCCTGAGTAGGTAGGATTACAGGCATACACCACTATGCTCAGCTAATATACATACTATTTTGAATTGTTTTCTTCACTTACATGAAAAAAAAAAAAAAAAAACCTCCAAATTGTTAGCCCATGGAGACCATCTAATGTGTATCATTAGTATTTTATTACATAAATGTTTCAGAATTCAATCTTTAATTTTCCTATAATAGGACAGTGTTCTGTTTTTCACAATTATTAGTAATACTGTAAAAACTATTTTTATGCATAAAATGCTTTTTGAACTCAGGGCTATAGCCTTAAGACCCCAAGAAAGAAATTCCTACAAGAACAAAAAGTCTGAAACTTTTAAAATCAACTGATAATAACCTGGAAAGACTGGGCATAAAAGATACTCCCAAGAAAACTTCAGATTTTTAAACACTTGGCAAATCTATTATTAATTTGGTTCCTTTCTCCTTTTTCTGTGAGGAGAAAGAAGGCTTTTTGGGGGAGCTGGGGAGAAGACCTTTTTATTTAGTATACAATTCAGAAGAACAAGAAAACATTCTTGAATTTACTCTGAAGATTGGTTAAACTTAGTTACAGGATGGGCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGGAGCCAAGGTGTGAGGATGGGTTGTGCCCAGGAGTTTGAGATCAGCCTGGGCAACATAGTGAGACTTTCTCTCTACACACAAAAAAATTAAAAATTAGCTGGGTGTGGTAGTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGCTGGAAGGATCACTTGAGCCCAGAAGTTCGGGGCTGCAGTCAGCTATGATCATGGCATTGCACTCCAGCCTGGGCAACAGAGCAAAACCCTGCCTCAGAAAACAAACAAAAGGCCGGGCGTGGTGGCTCACGAGGGCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCAGTCTCTACTAAAAATACAAGAAAAATTAGCTGGGGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAAGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAAACAGCTTACAATTCAAAACAGTTCTGGAACTGCTGATTATAGAACATATCTTTGGCTACTTTCCCTCAAGTCAGGATCAAATGCAAACCTATTCATATTCTACCGACATTATGACAATAAAAGTAATGTAAGTCATGGTACATGAATTAAGGTGATTTATATTTTACATTTCATATAAAAAGGACAGCTGTGAATGTGCATTAAGTGGCCTACCTAAATGCACAAAATGATACTTTTTTTTTTTTGGTAAATTATGTGCGAAATAAACACAGGATCAAAACTGTGCCTGCCCTTCTGTTCTTACCTGATAGTCTACAAGTAGCTCAGGACCTTTGAAGTATCGGGAAGCAACTCGGACATTATATTCTTGGCCAGGATGATAAAACTCAGCCAAACCCCGGTCTATTAGTCGTAGCTGAAAAAGAATAAACCATGAGCAATCTTATCTTTCTCTAAGCTACCCACACTGTGCCATTAGCATACTCTTGATAAAATATACCAGACACGTCACTCTTTACTGAAACCCCTCCACTGACTACTTATAGCCTTTAGAATGAAAATAAAACTTCTTAGCTTGACAAACCTCTTTCTCCATGATTTTGTTCCTGGAAGACACAATCTCACCTGTGCTTTTACAAATTTCTTAAACTGCTCAATGACTAAAATGTCCCTACTACCCAGCCTATAATCCTATTGGTAAGCATTTCCTTAACTTTTGGAATATTTAAGTCAGCTTCTCAATGAAGTCTGATCATTGCCTTCAGCCCCCTGAATTTTAGATATATTTCTTTAACAGAACCTAAACTCTTTATGTTTTCTACCTTTCTTTTTCAATATGGACGACAAGCTCCTTAGGGGTAGGGACTGTTTTATTCACCTTTGTAATTTTCAGAATTCAACATAATGCCTGGTATACAGGAGAAAAATGAATAAATATTTGCTGGATAGATGAAATAACAGAAAAGTCATACAATACAGCTTTTACCAAAATGCATCCTAAACATGGAAAAAGGGGTAAGAGGCAAGCTTATCTGCCCACTGTGCATAGCATGACCATGATCTGAAGTGCCAGCAGTAGGCCCTGAGGAAAAACATCGGACTGCTCTGGCACTAAGTTTACTGCCTGTATCTCAAAACTAAACCTTTGATTACTCCCTGCAAAAGCACCTCCACTCAGTCTCCCCCTGTTCGGTTAAAGGTGATACTCATCCTGTCATACAAGCCAAAACTTAAGATTCACCCTGGATTCTTGATTCCCTCAGACCTCACATTTAATCTGTCAAAAAATTCTGAAGGTTCTATCATATTGTGACCATTATCATCACCTCCACTGCCACTGCCCCGATCCAAGCCACCACCACCTCTTGTTTGATATATTGCCATAGCCCCTTCTCCTAACTGGTCTCACTGCTTTCACTCTTGCCCTCTAGTCTAAACAGTTTAATAAATACTAAATAGTTTAATAGTTATTTTAAAAATAATTAAATATTTAAAAATAAATATAAACAGCTTTTTAAAAGGATTGTTCAGGTTGCTATGGAGAGATTATAGATTCACAGGAAATTGCCAAAGTAGTAGAGATTCTCTGCACCCTTTACCCAGTTTCCCCTAATAGTAACATCTTACATAACTACAGTACAATATCAAAATCAAGAAACTGACACTGGCACAATTCAGAAAGATCTTATTCAGGTTTCACCAGTTTTACATGCACGCATGTGTTTGTGTGTGTGTTTCTATGCAATTTCATCACATATGTAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTCACCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCGTCATCTGCCTGCCTTGGCCTCCCAAAATGATTACAGGTGTGAGCCACTGCACCCAGCTTTTCCCCCCAATTTTAAGCTATTACAAATATAGTTGCATTCATATATAGGCTTTTGTGTGGACCTAAGATTTTG
Task1_train_27587
The variant affects gene CSNK2A1 (casein kinase 2 alpha 1), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Okur-Chung neurodevelopmental syndrome
AGGCATGACCCACCGTGCCTGGCTAGTTTTTTCTTTTTTTTTTTTTTTTAGTTTTTTTTTTAGTTTTTTCTTTTATGCATCTTTCACTCGGTTTTAAAACAATTTTTACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGCAGGGGTGTGATCTTGGCTCATTGCAACTCAGCTTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCGCCCACCACCGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAGCTCCTGACCTTGTGATCCACTTGCCTTGGCCTTTCCAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCTGGCTCTTTTTTTTTTTTTTTTAAAGACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTCCAACTCCTGGGCTTAGGCCTCCTGAGTAGGTAGGATTACAGGCATACACCACTATGCTCAGCTAATATACATACTATTTTGAATTGTTTTCTTCACTTACATGAAAAAAAAAAAAAAAAAACCTCCAAATTGTTAGCCCATGGAGACCATCTAATGTGTATCATTAGTATTTTATTACATAAATGTTTCAGAATTCAATCTTTAATTTTCCTATAATAGGACAGTGTTCTGTTTTTCACAATTATTAGTAATACTGTAAAAACTATTTTTATGCATAAAATGCTTTTTGAACTCAGGGCTATAGCCTTAAGACCCCAAGAAAGAAATTCCTACAAGAACAAAAAGTCTGAAACTTTTAAAATCAACTGATAATAACCTGGAAAGACTGGGCATAAAAGATACTCCCAAGAAAACTTCAGATTTTTAAACACTTGGCAAATCTATTATTAATTTGGTTCCTTTCTCCTTTTTCTGTGAGGAGAAAGAAGGCTTTTTGGGGGAGCTGGGGAGAAGACCTTTTTATTTAGTATACAATTCAGAAGAACAAGAAAACATTCTTGAATTTACTCTGAAGATTGGTTAAACTTAGTTACAGGATGGGCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGGAGCCAAGGTGTGAGGATGGGTTGTGCCCAGGAGTTTGAGATCAGCCTGGGCAACATAGTGAGACTTTCTCTCTACACACAAAAAAATTAAAAATTAGCTGGGTGTGGTAGTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGCTGGAAGGATCACTTGAGCCCAGAAGTTCGGGGCTGCAGTCAGCTATGATCATGGCATTGCACTCCAGCCTGGGCAACAGAGCAAAACCCTGCCTCAGAAAACAAACAAAAGGCCGGGCGTGGTGGCTCACGAGGGCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCAGTCTCTACTAAAAATACAAGAAAAATTAGCTGGGGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAAGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAAACAGCTTACAATTCAAAACAGTTCTGGAACTGCTGATTATAGAACATATCTTTGGCTACTTTCCCTCAAGTCAGGATCAAATGCAAACCTATTCATATTCTACCGACATTATGACAATAAAAGTAATGTAAGTCATGGTACATGAATTAAGGTGATTTATATTTTACATTTCATATAAAAAGGACAGCTGTGAATGTGCATTAAGTGGCCTACCTAAATGCACAAAATGATACTTTTTTTTTTTTGGTAAATTATGTGCGAAATAAACACAGGATCAAAACTGTGCCTGCCCTTCTGTTCTTACCTGATAGTCTACAAGTAGCTCAGGACCTTTGAAGTATCGGGAAGCAACTCGGACATTATATTCTTGGCCAGGATGATAAAACTCAGCCAAACCCCAGTCTATTAGTCGTAGCTGAAAAAGAATAAACCATGAGCAATCTTATCTTTCTCTAAGCTACCCACACTGTGCCATTAGCATACTCTTGATAAAATATACCAGACACGTCACTCTTTACTGAAACCCCTCCACTGACTACTTATAGCCTTTAGAATGAAAATAAAACTTCTTAGCTTGACAAACCTCTTTCTCCATGATTTTGTTCCTGGAAGACACAATCTCACCTGTGCTTTTACAAATTTCTTAAACTGCTCAATGACTAAAATGTCCCTACTACCCAGCCTATAATCCTATTGGTAAGCATTTCCTTAACTTTTGGAATATTTAAGTCAGCTTCTCAATGAAGTCTGATCATTGCCTTCAGCCCCCTGAATTTTAGATATATTTCTTTAACAGAACCTAAACTCTTTATGTTTTCTACCTTTCTTTTTCAATATGGACGACAAGCTCCTTAGGGGTAGGGACTGTTTTATTCACCTTTGTAATTTTCAGAATTCAACATAATGCCTGGTATACAGGAGAAAAATGAATAAATATTTGCTGGATAGATGAAATAACAGAAAAGTCATACAATACAGCTTTTACCAAAATGCATCCTAAACATGGAAAAAGGGGTAAGAGGCAAGCTTATCTGCCCACTGTGCATAGCATGACCATGATCTGAAGTGCCAGCAGTAGGCCCTGAGGAAAAACATCGGACTGCTCTGGCACTAAGTTTACTGCCTGTATCTCAAAACTAAACCTTTGATTACTCCCTGCAAAAGCACCTCCACTCAGTCTCCCCCTGTTCGGTTAAAGGTGATACTCATCCTGTCATACAAGCCAAAACTTAAGATTCACCCTGGATTCTTGATTCCCTCAGACCTCACATTTAATCTGTCAAAAAATTCTGAAGGTTCTATCATATTGTGACCATTATCATCACCTCCACTGCCACTGCCCCGATCCAAGCCACCACCACCTCTTGTTTGATATATTGCCATAGCCCCTTCTCCTAACTGGTCTCACTGCTTTCACTCTTGCCCTCTAGTCTAAACAGTTTAATAAATACTAAATAGTTTAATAGTTATTTTAAAAATAATTAAATATTTAAAAATAAATATAAACAGCTTTTTAAAAGGATTGTTCAGGTTGCTATGGAGAGATTATAGATTCACAGGAAATTGCCAAAGTAGTAGAGATTCTCTGCACCCTTTACCCAGTTTCCCCTAATAGTAACATCTTACATAACTACAGTACAATATCAAAATCAAGAAACTGACACTGGCACAATTCAGAAAGATCTTATTCAGGTTTCACCAGTTTTACATGCACGCATGTGTTTGTGTGTGTGTTTCTATGCAATTTCATCACATATGTAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTCACCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCGTCATCTGCCTGCCTTGGCCTCCCAAAATGATTACAGGTGTGAGCCACTGCACCCAGCTTTTCCCCCCAATTTTAAGCTATTACAAATATAGTTGCATTCATATATAGGCTTTTGTGTGGACCTAAGATTTTGTT
AGGCATGACCCACCGTGCCTGGCTAGTTTTTTCTTTTTTTTTTTTTTTTAGTTTTTTTTTTAGTTTTTTCTTTTATGCATCTTTCACTCGGTTTTAAAACAATTTTTACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGCAGGGGTGTGATCTTGGCTCATTGCAACTCAGCTTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCGCCCACCACCGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAGCTCCTGACCTTGTGATCCACTTGCCTTGGCCTTTCCAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCTGGCTCTTTTTTTTTTTTTTTTAAAGACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTCCAACTCCTGGGCTTAGGCCTCCTGAGTAGGTAGGATTACAGGCATACACCACTATGCTCAGCTAATATACATACTATTTTGAATTGTTTTCTTCACTTACATGAAAAAAAAAAAAAAAAAACCTCCAAATTGTTAGCCCATGGAGACCATCTAATGTGTATCATTAGTATTTTATTACATAAATGTTTCAGAATTCAATCTTTAATTTTCCTATAATAGGACAGTGTTCTGTTTTTCACAATTATTAGTAATACTGTAAAAACTATTTTTATGCATAAAATGCTTTTTGAACTCAGGGCTATAGCCTTAAGACCCCAAGAAAGAAATTCCTACAAGAACAAAAAGTCTGAAACTTTTAAAATCAACTGATAATAACCTGGAAAGACTGGGCATAAAAGATACTCCCAAGAAAACTTCAGATTTTTAAACACTTGGCAAATCTATTATTAATTTGGTTCCTTTCTCCTTTTTCTGTGAGGAGAAAGAAGGCTTTTTGGGGGAGCTGGGGAGAAGACCTTTTTATTTAGTATACAATTCAGAAGAACAAGAAAACATTCTTGAATTTACTCTGAAGATTGGTTAAACTTAGTTACAGGATGGGCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGGAGCCAAGGTGTGAGGATGGGTTGTGCCCAGGAGTTTGAGATCAGCCTGGGCAACATAGTGAGACTTTCTCTCTACACACAAAAAAATTAAAAATTAGCTGGGTGTGGTAGTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGCTGGAAGGATCACTTGAGCCCAGAAGTTCGGGGCTGCAGTCAGCTATGATCATGGCATTGCACTCCAGCCTGGGCAACAGAGCAAAACCCTGCCTCAGAAAACAAACAAAAGGCCGGGCGTGGTGGCTCACGAGGGCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCAGTCTCTACTAAAAATACAAGAAAAATTAGCTGGGGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAAGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAAACAGCTTACAATTCAAAACAGTTCTGGAACTGCTGATTATAGAACATATCTTTGGCTACTTTCCCTCAAGTCAGGATCAAATGCAAACCTATTCATATTCTACCGACATTATGACAATAAAAGTAATGTAAGTCATGGTACATGAATTAAGGTGATTTATATTTTACATTTCATATAAAAAGGACAGCTGTGAATGTGCATTAAGTGGCCTACCTAAATGCACAAAATGATACTTTTTTTTTTTTGGTAAATTATGTGCGAAATAAACACAGGATCAAAACTGTGCCTGCCCTTCTGTTCTTACCTGATAGTCTACAAGTAGCTCAGGACCTTTGAAGTATCGGGAAGCAACTCGGACATTATATTCTTGGCCAGGATGATAAAACTCAGCCAAACCCCAGCCTATTAGTCGTAGCTGAAAAAGAATAAACCATGAGCAATCTTATCTTTCTCTAAGCTACCCACACTGTGCCATTAGCATACTCTTGATAAAATATACCAGACACGTCACTCTTTACTGAAACCCCTCCACTGACTACTTATAGCCTTTAGAATGAAAATAAAACTTCTTAGCTTGACAAACCTCTTTCTCCATGATTTTGTTCCTGGAAGACACAATCTCACCTGTGCTTTTACAAATTTCTTAAACTGCTCAATGACTAAAATGTCCCTACTACCCAGCCTATAATCCTATTGGTAAGCATTTCCTTAACTTTTGGAATATTTAAGTCAGCTTCTCAATGAAGTCTGATCATTGCCTTCAGCCCCCTGAATTTTAGATATATTTCTTTAACAGAACCTAAACTCTTTATGTTTTCTACCTTTCTTTTTCAATATGGACGACAAGCTCCTTAGGGGTAGGGACTGTTTTATTCACCTTTGTAATTTTCAGAATTCAACATAATGCCTGGTATACAGGAGAAAAATGAATAAATATTTGCTGGATAGATGAAATAACAGAAAAGTCATACAATACAGCTTTTACCAAAATGCATCCTAAACATGGAAAAAGGGGTAAGAGGCAAGCTTATCTGCCCACTGTGCATAGCATGACCATGATCTGAAGTGCCAGCAGTAGGCCCTGAGGAAAAACATCGGACTGCTCTGGCACTAAGTTTACTGCCTGTATCTCAAAACTAAACCTTTGATTACTCCCTGCAAAAGCACCTCCACTCAGTCTCCCCCTGTTCGGTTAAAGGTGATACTCATCCTGTCATACAAGCCAAAACTTAAGATTCACCCTGGATTCTTGATTCCCTCAGACCTCACATTTAATCTGTCAAAAAATTCTGAAGGTTCTATCATATTGTGACCATTATCATCACCTCCACTGCCACTGCCCCGATCCAAGCCACCACCACCTCTTGTTTGATATATTGCCATAGCCCCTTCTCCTAACTGGTCTCACTGCTTTCACTCTTGCCCTCTAGTCTAAACAGTTTAATAAATACTAAATAGTTTAATAGTTATTTTAAAAATAATTAAATATTTAAAAATAAATATAAACAGCTTTTTAAAAGGATTGTTCAGGTTGCTATGGAGAGATTATAGATTCACAGGAAATTGCCAAAGTAGTAGAGATTCTCTGCACCCTTTACCCAGTTTCCCCTAATAGTAACATCTTACATAACTACAGTACAATATCAAAATCAAGAAACTGACACTGGCACAATTCAGAAAGATCTTATTCAGGTTTCACCAGTTTTACATGCACGCATGTGTTTGTGTGTGTGTTTCTATGCAATTTCATCACATATGTAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTCACCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCGTCATCTGCCTGCCTTGGCCTCCCAAAATGATTACAGGTGTGAGCCACTGCACCCAGCTTTTCCCCCCAATTTTAAGCTATTACAAATATAGTTGCATTCATATATAGGCTTTTGTGTGGACCTAAGATTTTGTT
Task1_train_27588
Given this context: Chromosome 20, gene CSNK2A1 (casein kinase 2 alpha 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; not provided
GGCATGACCCACCGTGCCTGGCTAGTTTTTTCTTTTTTTTTTTTTTTTAGTTTTTTTTTTAGTTTTTTCTTTTATGCATCTTTCACTCGGTTTTAAAACAATTTTTACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGCAGGGGTGTGATCTTGGCTCATTGCAACTCAGCTTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCGCCCACCACCGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAGCTCCTGACCTTGTGATCCACTTGCCTTGGCCTTTCCAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCTGGCTCTTTTTTTTTTTTTTTTAAAGACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTCCAACTCCTGGGCTTAGGCCTCCTGAGTAGGTAGGATTACAGGCATACACCACTATGCTCAGCTAATATACATACTATTTTGAATTGTTTTCTTCACTTACATGAAAAAAAAAAAAAAAAAACCTCCAAATTGTTAGCCCATGGAGACCATCTAATGTGTATCATTAGTATTTTATTACATAAATGTTTCAGAATTCAATCTTTAATTTTCCTATAATAGGACAGTGTTCTGTTTTTCACAATTATTAGTAATACTGTAAAAACTATTTTTATGCATAAAATGCTTTTTGAACTCAGGGCTATAGCCTTAAGACCCCAAGAAAGAAATTCCTACAAGAACAAAAAGTCTGAAACTTTTAAAATCAACTGATAATAACCTGGAAAGACTGGGCATAAAAGATACTCCCAAGAAAACTTCAGATTTTTAAACACTTGGCAAATCTATTATTAATTTGGTTCCTTTCTCCTTTTTCTGTGAGGAGAAAGAAGGCTTTTTGGGGGAGCTGGGGAGAAGACCTTTTTATTTAGTATACAATTCAGAAGAACAAGAAAACATTCTTGAATTTACTCTGAAGATTGGTTAAACTTAGTTACAGGATGGGCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGGAGCCAAGGTGTGAGGATGGGTTGTGCCCAGGAGTTTGAGATCAGCCTGGGCAACATAGTGAGACTTTCTCTCTACACACAAAAAAATTAAAAATTAGCTGGGTGTGGTAGTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGCTGGAAGGATCACTTGAGCCCAGAAGTTCGGGGCTGCAGTCAGCTATGATCATGGCATTGCACTCCAGCCTGGGCAACAGAGCAAAACCCTGCCTCAGAAAACAAACAAAAGGCCGGGCGTGGTGGCTCACGAGGGCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCAGTCTCTACTAAAAATACAAGAAAAATTAGCTGGGGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAAGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAAACAGCTTACAATTCAAAACAGTTCTGGAACTGCTGATTATAGAACATATCTTTGGCTACTTTCCCTCAAGTCAGGATCAAATGCAAACCTATTCATATTCTACCGACATTATGACAATAAAAGTAATGTAAGTCATGGTACATGAATTAAGGTGATTTATATTTTACATTTCATATAAAAAGGACAGCTGTGAATGTGCATTAAGTGGCCTACCTAAATGCACAAAATGATACTTTTTTTTTTTTGGTAAATTATGTGCGAAATAAACACAGGATCAAAACTGTGCCTGCCCTTCTGTTCTTACCTGATAGTCTACAAGTAGCTCAGGACCTTTGAAGTATCGGGAAGCAACTCGGACATTATATTCTTGGCCAGGATGATAAAACTCAGCCAAACCCCAGTCTATTAGTCGTAGCTGAAAAAGAATAAACCATGAGCAATCTTATCTTTCTCTAAGCTACCCACACTGTGCCATTAGCATACTCTTGATAAAATATACCAGACACGTCACTCTTTACTGAAACCCCTCCACTGACTACTTATAGCCTTTAGAATGAAAATAAAACTTCTTAGCTTGACAAACCTCTTTCTCCATGATTTTGTTCCTGGAAGACACAATCTCACCTGTGCTTTTACAAATTTCTTAAACTGCTCAATGACTAAAATGTCCCTACTACCCAGCCTATAATCCTATTGGTAAGCATTTCCTTAACTTTTGGAATATTTAAGTCAGCTTCTCAATGAAGTCTGATCATTGCCTTCAGCCCCCTGAATTTTAGATATATTTCTTTAACAGAACCTAAACTCTTTATGTTTTCTACCTTTCTTTTTCAATATGGACGACAAGCTCCTTAGGGGTAGGGACTGTTTTATTCACCTTTGTAATTTTCAGAATTCAACATAATGCCTGGTATACAGGAGAAAAATGAATAAATATTTGCTGGATAGATGAAATAACAGAAAAGTCATACAATACAGCTTTTACCAAAATGCATCCTAAACATGGAAAAAGGGGTAAGAGGCAAGCTTATCTGCCCACTGTGCATAGCATGACCATGATCTGAAGTGCCAGCAGTAGGCCCTGAGGAAAAACATCGGACTGCTCTGGCACTAAGTTTACTGCCTGTATCTCAAAACTAAACCTTTGATTACTCCCTGCAAAAGCACCTCCACTCAGTCTCCCCCTGTTCGGTTAAAGGTGATACTCATCCTGTCATACAAGCCAAAACTTAAGATTCACCCTGGATTCTTGATTCCCTCAGACCTCACATTTAATCTGTCAAAAAATTCTGAAGGTTCTATCATATTGTGACCATTATCATCACCTCCACTGCCACTGCCCCGATCCAAGCCACCACCACCTCTTGTTTGATATATTGCCATAGCCCCTTCTCCTAACTGGTCTCACTGCTTTCACTCTTGCCCTCTAGTCTAAACAGTTTAATAAATACTAAATAGTTTAATAGTTATTTTAAAAATAATTAAATATTTAAAAATAAATATAAACAGCTTTTTAAAAGGATTGTTCAGGTTGCTATGGAGAGATTATAGATTCACAGGAAATTGCCAAAGTAGTAGAGATTCTCTGCACCCTTTACCCAGTTTCCCCTAATAGTAACATCTTACATAACTACAGTACAATATCAAAATCAAGAAACTGACACTGGCACAATTCAGAAAGATCTTATTCAGGTTTCACCAGTTTTACATGCACGCATGTGTTTGTGTGTGTGTTTCTATGCAATTTCATCACATATGTAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTCACCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCGTCATCTGCCTGCCTTGGCCTCCCAAAATGATTACAGGTGTGAGCCACTGCACCCAGCTTTTCCCCCCAATTTTAAGCTATTACAAATATAGTTGCATTCATATATAGGCTTTTGTGTGGACCTAAGATTTTGTTG
GGCATGACCCACCGTGCCTGGCTAGTTTTTTCTTTTTTTTTTTTTTTTAGTTTTTTTTTTAGTTTTTTCTTTTATGCATCTTTCACTCGGTTTTAAAACAATTTTTACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGCAGGGGTGTGATCTTGGCTCATTGCAACTCAGCTTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCGCCCACCACCGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAGCTCCTGACCTTGTGATCCACTTGCCTTGGCCTTTCCAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCTGGCTCTTTTTTTTTTTTTTTTAAAGACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTCCAACTCCTGGGCTTAGGCCTCCTGAGTAGGTAGGATTACAGGCATACACCACTATGCTCAGCTAATATACATACTATTTTGAATTGTTTTCTTCACTTACATGAAAAAAAAAAAAAAAAAACCTCCAAATTGTTAGCCCATGGAGACCATCTAATGTGTATCATTAGTATTTTATTACATAAATGTTTCAGAATTCAATCTTTAATTTTCCTATAATAGGACAGTGTTCTGTTTTTCACAATTATTAGTAATACTGTAAAAACTATTTTTATGCATAAAATGCTTTTTGAACTCAGGGCTATAGCCTTAAGACCCCAAGAAAGAAATTCCTACAAGAACAAAAAGTCTGAAACTTTTAAAATCAACTGATAATAACCTGGAAAGACTGGGCATAAAAGATACTCCCAAGAAAACTTCAGATTTTTAAACACTTGGCAAATCTATTATTAATTTGGTTCCTTTCTCCTTTTTCTGTGAGGAGAAAGAAGGCTTTTTGGGGGAGCTGGGGAGAAGACCTTTTTATTTAGTATACAATTCAGAAGAACAAGAAAACATTCTTGAATTTACTCTGAAGATTGGTTAAACTTAGTTACAGGATGGGCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGGAGCCAAGGTGTGAGGATGGGTTGTGCCCAGGAGTTTGAGATCAGCCTGGGCAACATAGTGAGACTTTCTCTCTACACACAAAAAAATTAAAAATTAGCTGGGTGTGGTAGTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGCTGGAAGGATCACTTGAGCCCAGAAGTTCGGGGCTGCAGTCAGCTATGATCATGGCATTGCACTCCAGCCTGGGCAACAGAGCAAAACCCTGCCTCAGAAAACAAACAAAAGGCCGGGCGTGGTGGCTCACGAGGGCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCAGTCTCTACTAAAAATACAAGAAAAATTAGCTGGGGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAAGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAAACAGCTTACAATTCAAAACAGTTCTGGAACTGCTGATTATAGAACATATCTTTGGCTACTTTCCCTCAAGTCAGGATCAAATGCAAACCTATTCATATTCTACCGACATTATGACAATAAAAGTAATGTAAGTCATGGTACATGAATTAAGGTGATTTATATTTTACATTTCATATAAAAAGGACAGCTGTGAATGTGCATTAAGTGGCCTACCTAAATGCACAAAATGATACTTTTTTTTTTTTGGTAAATTATGTGCGAAATAAACACAGGATCAAAACTGTGCCTGCCCTTCTGTTCTTACCTGATAGTCTACAAGTAGCTCAGGACCTTTGAAGTATCGGGAAGCAACTCGGACATTATATTCTTGGCCAGGATGATAAAACTCAGCCAAACCCCAGTTTATTAGTCGTAGCTGAAAAAGAATAAACCATGAGCAATCTTATCTTTCTCTAAGCTACCCACACTGTGCCATTAGCATACTCTTGATAAAATATACCAGACACGTCACTCTTTACTGAAACCCCTCCACTGACTACTTATAGCCTTTAGAATGAAAATAAAACTTCTTAGCTTGACAAACCTCTTTCTCCATGATTTTGTTCCTGGAAGACACAATCTCACCTGTGCTTTTACAAATTTCTTAAACTGCTCAATGACTAAAATGTCCCTACTACCCAGCCTATAATCCTATTGGTAAGCATTTCCTTAACTTTTGGAATATTTAAGTCAGCTTCTCAATGAAGTCTGATCATTGCCTTCAGCCCCCTGAATTTTAGATATATTTCTTTAACAGAACCTAAACTCTTTATGTTTTCTACCTTTCTTTTTCAATATGGACGACAAGCTCCTTAGGGGTAGGGACTGTTTTATTCACCTTTGTAATTTTCAGAATTCAACATAATGCCTGGTATACAGGAGAAAAATGAATAAATATTTGCTGGATAGATGAAATAACAGAAAAGTCATACAATACAGCTTTTACCAAAATGCATCCTAAACATGGAAAAAGGGGTAAGAGGCAAGCTTATCTGCCCACTGTGCATAGCATGACCATGATCTGAAGTGCCAGCAGTAGGCCCTGAGGAAAAACATCGGACTGCTCTGGCACTAAGTTTACTGCCTGTATCTCAAAACTAAACCTTTGATTACTCCCTGCAAAAGCACCTCCACTCAGTCTCCCCCTGTTCGGTTAAAGGTGATACTCATCCTGTCATACAAGCCAAAACTTAAGATTCACCCTGGATTCTTGATTCCCTCAGACCTCACATTTAATCTGTCAAAAAATTCTGAAGGTTCTATCATATTGTGACCATTATCATCACCTCCACTGCCACTGCCCCGATCCAAGCCACCACCACCTCTTGTTTGATATATTGCCATAGCCCCTTCTCCTAACTGGTCTCACTGCTTTCACTCTTGCCCTCTAGTCTAAACAGTTTAATAAATACTAAATAGTTTAATAGTTATTTTAAAAATAATTAAATATTTAAAAATAAATATAAACAGCTTTTTAAAAGGATTGTTCAGGTTGCTATGGAGAGATTATAGATTCACAGGAAATTGCCAAAGTAGTAGAGATTCTCTGCACCCTTTACCCAGTTTCCCCTAATAGTAACATCTTACATAACTACAGTACAATATCAAAATCAAGAAACTGACACTGGCACAATTCAGAAAGATCTTATTCAGGTTTCACCAGTTTTACATGCACGCATGTGTTTGTGTGTGTGTTTCTATGCAATTTCATCACATATGTAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTCACCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCGTCATCTGCCTGCCTTGGCCTCCCAAAATGATTACAGGTGTGAGCCACTGCACCCAGCTTTTCCCCCCAATTTTAAGCTATTACAAATATAGTTGCATTCATATATAGGCTTTTGTGTGGACCTAAGATTTTGTTG
Task1_train_27589
A mutation found in CSNK2A1 (casein kinase 2 alpha 1) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Okur-Chung neurodevelopmental syndrome
CATATGTAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTCACCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCGTCATCTGCCTGCCTTGGCCTCCCAAAATGATTACAGGTGTGAGCCACTGCACCCAGCTTTTCCCCCCAATTTTAAGCTATTACAAATATAGTTGCATTCATATATAGGCTTTTGTGTGGACCTAAGATTTTGTTGCTCTGAGATAAATGCCACTGCAGGATTGTATGGTAAGCATATGTTTAGCTTTTCAAGAAACCAACCAACTATAAAACAATAGTTAAGCATTTTCCAAAATGCCAAACTTTGCATTCCTACCAGCAATGTATGAGAGATCAAGTTTCTTCACATTTTTGCCAGCACTTGGTACCATCACTATTTTTTATTTTAGCTGTTCTAATAAATGTGTAGTTAACTTTTAAATTTCAAGTGAGAACATGCTAAAGCTTAGAATATGCAAAAGCTCTCTATCTTCAGAGAAAAGGCCTAACAATGACCAATAAGGTTTTACATGATTTGGTTTTACCTCTTTGATTTCATTTCCTCCTTCTTTCCCCGCATTCATTCTGTCCCAGCTTTATCCTTGCTGCTGCTCTTCCAACATGCCAAACATATCCTTACCTGAAGGGCTTTTGTACTTGCTATTTACTCTGCCTTGGGACATGTTTCTTCATAAGACTGCATGGCTGGGTCCCTCCCAGTGCTCTCTAAAATGTCACCTTTCCAATGAAACCTTCCCTTATAACTGGTTTAAAACTGCAAATACCCTCTTGCCATTCCCTATTCGTTTTTTCTTCTACATCAAAATAACTTTCTATCCCACCAGCCTCCCTAAATGTAGCTCCTAAAAGACAAGCATTTATTGTATGTTGAGTTCACTTACATATCCCCAGCCCTAGGGTGGTGCCTCTGACATGGTGTGTGTCTAAAAGTAATTCAGTTGCATAAATAAATCACCTGCCTCCCCAGAGACCACAACAGGCAAGTCATCACAGCTTGTCACCTTAAAAAACTGAAATGCTAAAGCATGTGGCCATTACAGCTCTCATGTAAAAGCATTTGCAGACAACAGGGCCCTTATGACATCCAATAAACAGAAACAGCATTTTCTGTATATCTCGTCCACTTAACTGTGCACATTTAATTCTCACGAATACCTAGTCGCCTGCAGGGCTATTATTACCCACACTGTACACGTAAGAAAAAGAAGGCAAATGGAGAGAAAGTAGTTTCTCAGGAAACCAGTTACTCAATAAATAAGGCGAGAAGCCACGTTTCCGGGCTTAGAAGATGAACATTTTGCCCACTTTACTCATGTTTCCTTCTTGGGAATATTCTTAGGAATATAAATAATGGTTCAAACATGTTGACTTGTAAATTCGTACATTCATTCACCAAATATTTCTCAACTGCCGAATAGGTACTAGGGCCTGTGACAACACAAGGGATAAAGTGTTGAAGATGGGCAATTAGCTACATCATGTAGATAAATAACACTTGTCAGCCTATCACTTTACCTTTCTGTGCTCATGATCAATCATGACATTATGGGGCTTGACATCTCTGTGCATAATTCCCATGCTGTGACAATAATCCAGGGCCTGTGGGATGAACGGGTCAGAAAGGAGTTAGCCTGAATAATACGTAAGAGTCCTTTACTTTTCCCTCCATGTAAATTTTCCTTTTAGCCTCACAATACCCCTGGGATTCAAGCTGAGGACACAGTCACTTCCACAGCAATGCTTCAGAGACTTGTTCATGATCTCACAGTCAAGCAAACTCAGCTCTCTGAGCTTAGAGATCTTTTTCTGACACAGTTGTTTCAACATGTTTTCTGTCCTAAAAGACCCAAAGTATACCCAAATTGCACCACTTCAAATTTTTCTGTCTTGTCCAGATCCTAGATTATTTCCACAGACCCCTCAAAGAAAGAAAACAGATCTTTACTACAAACCTCTTATTCTAAGAACAGTAATTCTTTAGCCATTAAGAGTCTGTAACAGAGGTTGGCAGACCACAGGCCAAATTTGGCCTGATGTCTGCTTTTGTAAATAATGTTTTATTGCAACATAGCCATGCCTATTTGTTTGCATATTGTTTATGGTTGCTCTTGTGCAACAACAGCAGACTTGAATAGTGTGACAAACACTACATGGCCCACAAAGCCTAAAATATTTACTATTTGGCCCTTTAAAGAAGTTTGCCAATGCCTGATTTAGGTCATCAAATCCAATCTGAAATGTTTCCAACCTCAAACTAAAGGGAACTGAGTAGTATAATCTTTGGGGTTTGTTAATCCCAGCCTTTCAGTCAGCCGACGTTGTTGGCCAAATTCTTGTCCTTCCTGAAGGGCAACTTGGGTTCCTACAGTTCCCAGGGCTGGGCAATCATATCTGTAACTTTCTAAAGCCTTGCTTGCCACAAACTGCATGAGCCAATGGAAAGATCAAGTATCTCTGCTGGCACAATCTCCTCAGGGGATTTCTAAGGCTCCAACAGCAGGCTTTATGTCAACTCTTGTTTAGTAAGAAAGCTTAGCCAACTTTTAGCAATTCTCTCTTCTAGGAAGCTGATCTTGTGGCTACTGGGAACAAGATATTTGGTGACCCCACTTTAGAAATGTAAGTAAATTTTCAATTAGCATCTATAAGCAGAAATTTACACAATCCTTAGGACAATTACCCTTTGAGAACTGAGTTAAAGTTTACTGTTTTATTTGCTGACTCTTAAGTGAGATAAAGTATACCAGAAGCTAGCACGTCAGGTGTTTTCACGAGTTTTGAAAATTTAATATTAACTTACATAGGGGCCACAGAAATTACAAATATTTGTTAAGGGGTCAGTCCCAGCTATCTTACAAATACCCTTTTTCAAATTGTTCTAAATTATACTCCCACTAGACCCCATTCCATAACCCTTAGCACAAGGGTTCTGATACTATTATTATTAATTTTTATTTATTTATGTATTTAGAGACAGGGTCTTACTCTGTGCTACTGCACTCCAGCCTGTGCAACAATCATAGCTCACTGCTGCCTCAAATTCCTGAGATCCTCCTGTCACAGCCTCCCAAGTAGCTGGAATTACAAGCATAAGCCACCATACCCAGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTATGTTGCTCAGGCTGGTCTTGATCTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTTACAGGTGCACACCACCATGCCCAGGTAATTAAACAATTTTTTTTTGTAGAGATGGGGATCTCACTATGTCACCCAGGCTGGTCTTTTGATCTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTATGATACTATTAACTTATTAAAAACTTATATAGAGGTCCCTTCTTTCAACATACTTTACAAAGTTAATCTGCTGGCTTTTCTACCATCAATTGACTATTTAACAAAAAGAAGACCAATTTAAAAAATATTTAGTATTCAAGGTTCACTTACCTTCAGAATCTCATACATGTAAAATCGAATATCATAGTCTGTTAACGTCTGGTACAATTGCTGTTAAAGACAAATGT
CATATGTAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTCACCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCGTCATCTGCCTGCCTTGGCCTCCCAAAATGATTACAGGTGTGAGCCACTGCACCCAGCTTTTCCCCCCAATTTTAAGCTATTACAAATATAGTTGCATTCATATATAGGCTTTTGTGTGGACCTAAGATTTTGTTGCTCTGAGATAAATGCCACTGCAGGATTGTATGGTAAGCATATGTTTAGCTTTTCAAGAAACCAACCAACTATAAAACAATAGTTAAGCATTTTCCAAAATGCCAAACTTTGCATTCCTACCAGCAATGTATGAGAGATCAAGTTTCTTCACATTTTTGCCAGCACTTGGTACCATCACTATTTTTTATTTTAGCTGTTCTAATAAATGTGTAGTTAACTTTTAAATTTCAAGTGAGAACATGCTAAAGCTTAGAATATGCAAAAGCTCTCTATCTTCAGAGAAAAGGCCTAACAATGACCAATAAGGTTTTACATGATTTGGTTTTACCTCTTTGATTTCATTTCCTCCTTCTTTCCCCGCATTCATTCTGTCCCAGCTTTATCCTTGCTGCTGCTCTTCCAACATGCCAAACATATCCTTACCTGAAGGGCTTTTGTACTTGCTATTTACTCTGCCTTGGGACATGTTTCTTCATAAGACTGCATGGCTGGGTCCCTCCCAGTGCTCTCTAAAATGTCACCTTTCCAATGAAACCTTCCCTTATAACTGGTTTAAAACTGCAAATACCCTCTTGCCATTCCCTATTCGTTTTTTCTTCTACATCAAAATAACTTTCTATCCCACCAGCCTCCCTAAATGTAGCTCCTAAAAGACAAGCATTTATTGTATGTTGAGTTCACTTACATATCCCCAGCCCTAGGGTGGTGCCTCTGACATGGTGTGTGTCTAAAAGTAATTCAGTTGCATAAATAAATCACCTGCCTCCCCAGAGACCACAACAGGCAAGTCATCACAGCTTGTCACCTTAAAAAACTGAAATGCTAAAGCATGTGGCCATTACAGCTCTCATGTAAAAGCATTTGCAGACAACAGGGCCCTTATGACATCCAATAAACAGAAACAGCATTTTCTGTATATCTCGTCCACTTAACTGTGCACATTTAATTCTCACGAATACCTAGTCGCCTGCAGGGCTATTATTACCCACACTGTACACGTAAGAAAAAGAAGGCAAATGGAGAGAAAGTAGTTTCTCAGGAAACCAGTTACTCAATAAATAAGGCGAGAAGCCACGTTTCCGGGCTTAGAAGATGAACATTTTGCCCACTTTACTCATGTTTCCTTCTTGGGAATATTCTTAGGAATATAAATAATGGTTCAAACATGTTGACTTGTAAATTCGTACATTCATTCACCAAATATTTCTCAACTGCCGAATAGGTACTAGGGCCTGTGACAACACAAGGGATAAAGTGTTGAAGATGGGCAATTAGCTACATCATGTAGATAAATAACACTTGTCAGCCTATCACTTTACCTTTCTGTGCTCATGATCAATCATGACATTACGGGGCTTGACATCTCTGTGCATAATTCCCATGCTGTGACAATAATCCAGGGCCTGTGGGATGAACGGGTCAGAAAGGAGTTAGCCTGAATAATACGTAAGAGTCCTTTACTTTTCCCTCCATGTAAATTTTCCTTTTAGCCTCACAATACCCCTGGGATTCAAGCTGAGGACACAGTCACTTCCACAGCAATGCTTCAGAGACTTGTTCATGATCTCACAGTCAAGCAAACTCAGCTCTCTGAGCTTAGAGATCTTTTTCTGACACAGTTGTTTCAACATGTTTTCTGTCCTAAAAGACCCAAAGTATACCCAAATTGCACCACTTCAAATTTTTCTGTCTTGTCCAGATCCTAGATTATTTCCACAGACCCCTCAAAGAAAGAAAACAGATCTTTACTACAAACCTCTTATTCTAAGAACAGTAATTCTTTAGCCATTAAGAGTCTGTAACAGAGGTTGGCAGACCACAGGCCAAATTTGGCCTGATGTCTGCTTTTGTAAATAATGTTTTATTGCAACATAGCCATGCCTATTTGTTTGCATATTGTTTATGGTTGCTCTTGTGCAACAACAGCAGACTTGAATAGTGTGACAAACACTACATGGCCCACAAAGCCTAAAATATTTACTATTTGGCCCTTTAAAGAAGTTTGCCAATGCCTGATTTAGGTCATCAAATCCAATCTGAAATGTTTCCAACCTCAAACTAAAGGGAACTGAGTAGTATAATCTTTGGGGTTTGTTAATCCCAGCCTTTCAGTCAGCCGACGTTGTTGGCCAAATTCTTGTCCTTCCTGAAGGGCAACTTGGGTTCCTACAGTTCCCAGGGCTGGGCAATCATATCTGTAACTTTCTAAAGCCTTGCTTGCCACAAACTGCATGAGCCAATGGAAAGATCAAGTATCTCTGCTGGCACAATCTCCTCAGGGGATTTCTAAGGCTCCAACAGCAGGCTTTATGTCAACTCTTGTTTAGTAAGAAAGCTTAGCCAACTTTTAGCAATTCTCTCTTCTAGGAAGCTGATCTTGTGGCTACTGGGAACAAGATATTTGGTGACCCCACTTTAGAAATGTAAGTAAATTTTCAATTAGCATCTATAAGCAGAAATTTACACAATCCTTAGGACAATTACCCTTTGAGAACTGAGTTAAAGTTTACTGTTTTATTTGCTGACTCTTAAGTGAGATAAAGTATACCAGAAGCTAGCACGTCAGGTGTTTTCACGAGTTTTGAAAATTTAATATTAACTTACATAGGGGCCACAGAAATTACAAATATTTGTTAAGGGGTCAGTCCCAGCTATCTTACAAATACCCTTTTTCAAATTGTTCTAAATTATACTCCCACTAGACCCCATTCCATAACCCTTAGCACAAGGGTTCTGATACTATTATTATTAATTTTTATTTATTTATGTATTTAGAGACAGGGTCTTACTCTGTGCTACTGCACTCCAGCCTGTGCAACAATCATAGCTCACTGCTGCCTCAAATTCCTGAGATCCTCCTGTCACAGCCTCCCAAGTAGCTGGAATTACAAGCATAAGCCACCATACCCAGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTATGTTGCTCAGGCTGGTCTTGATCTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTTACAGGTGCACACCACCATGCCCAGGTAATTAAACAATTTTTTTTTGTAGAGATGGGGATCTCACTATGTCACCCAGGCTGGTCTTTTGATCTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTATGATACTATTAACTTATTAAAAACTTATATAGAGGTCCCTTCTTTCAACATACTTTACAAAGTTAATCTGCTGGCTTTTCTACCATCAATTGACTATTTAACAAAAAGAAGACCAATTTAAAAAATATTTAGTATTCAAGGTTCACTTACCTTCAGAATCTCATACATGTAAAATCGAATATCATAGTCTGTTAACGTCTGGTACAATTGCTGTTAAAGACAAATGT
Task1_train_27590
This variant lies on Chromosome 20 and affects the gene CSNK2A1 (casein kinase 2 alpha 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; not provided
TAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTCACCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCGTCATCTGCCTGCCTTGGCCTCCCAAAATGATTACAGGTGTGAGCCACTGCACCCAGCTTTTCCCCCCAATTTTAAGCTATTACAAATATAGTTGCATTCATATATAGGCTTTTGTGTGGACCTAAGATTTTGTTGCTCTGAGATAAATGCCACTGCAGGATTGTATGGTAAGCATATGTTTAGCTTTTCAAGAAACCAACCAACTATAAAACAATAGTTAAGCATTTTCCAAAATGCCAAACTTTGCATTCCTACCAGCAATGTATGAGAGATCAAGTTTCTTCACATTTTTGCCAGCACTTGGTACCATCACTATTTTTTATTTTAGCTGTTCTAATAAATGTGTAGTTAACTTTTAAATTTCAAGTGAGAACATGCTAAAGCTTAGAATATGCAAAAGCTCTCTATCTTCAGAGAAAAGGCCTAACAATGACCAATAAGGTTTTACATGATTTGGTTTTACCTCTTTGATTTCATTTCCTCCTTCTTTCCCCGCATTCATTCTGTCCCAGCTTTATCCTTGCTGCTGCTCTTCCAACATGCCAAACATATCCTTACCTGAAGGGCTTTTGTACTTGCTATTTACTCTGCCTTGGGACATGTTTCTTCATAAGACTGCATGGCTGGGTCCCTCCCAGTGCTCTCTAAAATGTCACCTTTCCAATGAAACCTTCCCTTATAACTGGTTTAAAACTGCAAATACCCTCTTGCCATTCCCTATTCGTTTTTTCTTCTACATCAAAATAACTTTCTATCCCACCAGCCTCCCTAAATGTAGCTCCTAAAAGACAAGCATTTATTGTATGTTGAGTTCACTTACATATCCCCAGCCCTAGGGTGGTGCCTCTGACATGGTGTGTGTCTAAAAGTAATTCAGTTGCATAAATAAATCACCTGCCTCCCCAGAGACCACAACAGGCAAGTCATCACAGCTTGTCACCTTAAAAAACTGAAATGCTAAAGCATGTGGCCATTACAGCTCTCATGTAAAAGCATTTGCAGACAACAGGGCCCTTATGACATCCAATAAACAGAAACAGCATTTTCTGTATATCTCGTCCACTTAACTGTGCACATTTAATTCTCACGAATACCTAGTCGCCTGCAGGGCTATTATTACCCACACTGTACACGTAAGAAAAAGAAGGCAAATGGAGAGAAAGTAGTTTCTCAGGAAACCAGTTACTCAATAAATAAGGCGAGAAGCCACGTTTCCGGGCTTAGAAGATGAACATTTTGCCCACTTTACTCATGTTTCCTTCTTGGGAATATTCTTAGGAATATAAATAATGGTTCAAACATGTTGACTTGTAAATTCGTACATTCATTCACCAAATATTTCTCAACTGCCGAATAGGTACTAGGGCCTGTGACAACACAAGGGATAAAGTGTTGAAGATGGGCAATTAGCTACATCATGTAGATAAATAACACTTGTCAGCCTATCACTTTACCTTTCTGTGCTCATGATCAATCATGACATTATGGGGCTTGACATCTCTGTGCATAATTCCCATGCTGTGACAATAATCCAGGGCCTGTGGGATGAACGGGTCAGAAAGGAGTTAGCCTGAATAATACGTAAGAGTCCTTTACTTTTCCCTCCATGTAAATTTTCCTTTTAGCCTCACAATACCCCTGGGATTCAAGCTGAGGACACAGTCACTTCCACAGCAATGCTTCAGAGACTTGTTCATGATCTCACAGTCAAGCAAACTCAGCTCTCTGAGCTTAGAGATCTTTTTCTGACACAGTTGTTTCAACATGTTTTCTGTCCTAAAAGACCCAAAGTATACCCAAATTGCACCACTTCAAATTTTTCTGTCTTGTCCAGATCCTAGATTATTTCCACAGACCCCTCAAAGAAAGAAAACAGATCTTTACTACAAACCTCTTATTCTAAGAACAGTAATTCTTTAGCCATTAAGAGTCTGTAACAGAGGTTGGCAGACCACAGGCCAAATTTGGCCTGATGTCTGCTTTTGTAAATAATGTTTTATTGCAACATAGCCATGCCTATTTGTTTGCATATTGTTTATGGTTGCTCTTGTGCAACAACAGCAGACTTGAATAGTGTGACAAACACTACATGGCCCACAAAGCCTAAAATATTTACTATTTGGCCCTTTAAAGAAGTTTGCCAATGCCTGATTTAGGTCATCAAATCCAATCTGAAATGTTTCCAACCTCAAACTAAAGGGAACTGAGTAGTATAATCTTTGGGGTTTGTTAATCCCAGCCTTTCAGTCAGCCGACGTTGTTGGCCAAATTCTTGTCCTTCCTGAAGGGCAACTTGGGTTCCTACAGTTCCCAGGGCTGGGCAATCATATCTGTAACTTTCTAAAGCCTTGCTTGCCACAAACTGCATGAGCCAATGGAAAGATCAAGTATCTCTGCTGGCACAATCTCCTCAGGGGATTTCTAAGGCTCCAACAGCAGGCTTTATGTCAACTCTTGTTTAGTAAGAAAGCTTAGCCAACTTTTAGCAATTCTCTCTTCTAGGAAGCTGATCTTGTGGCTACTGGGAACAAGATATTTGGTGACCCCACTTTAGAAATGTAAGTAAATTTTCAATTAGCATCTATAAGCAGAAATTTACACAATCCTTAGGACAATTACCCTTTGAGAACTGAGTTAAAGTTTACTGTTTTATTTGCTGACTCTTAAGTGAGATAAAGTATACCAGAAGCTAGCACGTCAGGTGTTTTCACGAGTTTTGAAAATTTAATATTAACTTACATAGGGGCCACAGAAATTACAAATATTTGTTAAGGGGTCAGTCCCAGCTATCTTACAAATACCCTTTTTCAAATTGTTCTAAATTATACTCCCACTAGACCCCATTCCATAACCCTTAGCACAAGGGTTCTGATACTATTATTATTAATTTTTATTTATTTATGTATTTAGAGACAGGGTCTTACTCTGTGCTACTGCACTCCAGCCTGTGCAACAATCATAGCTCACTGCTGCCTCAAATTCCTGAGATCCTCCTGTCACAGCCTCCCAAGTAGCTGGAATTACAAGCATAAGCCACCATACCCAGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTATGTTGCTCAGGCTGGTCTTGATCTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTTACAGGTGCACACCACCATGCCCAGGTAATTAAACAATTTTTTTTTGTAGAGATGGGGATCTCACTATGTCACCCAGGCTGGTCTTTTGATCTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTATGATACTATTAACTTATTAAAAACTTATATAGAGGTCCCTTCTTTCAACATACTTTACAAAGTTAATCTGCTGGCTTTTCTACCATCAATTGACTATTTAACAAAAAGAAGACCAATTTAAAAAATATTTAGTATTCAAGGTTCACTTACCTTCAGAATCTCATACATGTAAAATCGAATATCATAGTCTGTTAACGTCTGGTACAATTGCTGTTAAAGACAAATGTTTGAGC
TAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTCACCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCGTCATCTGCCTGCCTTGGCCTCCCAAAATGATTACAGGTGTGAGCCACTGCACCCAGCTTTTCCCCCCAATTTTAAGCTATTACAAATATAGTTGCATTCATATATAGGCTTTTGTGTGGACCTAAGATTTTGTTGCTCTGAGATAAATGCCACTGCAGGATTGTATGGTAAGCATATGTTTAGCTTTTCAAGAAACCAACCAACTATAAAACAATAGTTAAGCATTTTCCAAAATGCCAAACTTTGCATTCCTACCAGCAATGTATGAGAGATCAAGTTTCTTCACATTTTTGCCAGCACTTGGTACCATCACTATTTTTTATTTTAGCTGTTCTAATAAATGTGTAGTTAACTTTTAAATTTCAAGTGAGAACATGCTAAAGCTTAGAATATGCAAAAGCTCTCTATCTTCAGAGAAAAGGCCTAACAATGACCAATAAGGTTTTACATGATTTGGTTTTACCTCTTTGATTTCATTTCCTCCTTCTTTCCCCGCATTCATTCTGTCCCAGCTTTATCCTTGCTGCTGCTCTTCCAACATGCCAAACATATCCTTACCTGAAGGGCTTTTGTACTTGCTATTTACTCTGCCTTGGGACATGTTTCTTCATAAGACTGCATGGCTGGGTCCCTCCCAGTGCTCTCTAAAATGTCACCTTTCCAATGAAACCTTCCCTTATAACTGGTTTAAAACTGCAAATACCCTCTTGCCATTCCCTATTCGTTTTTTCTTCTACATCAAAATAACTTTCTATCCCACCAGCCTCCCTAAATGTAGCTCCTAAAAGACAAGCATTTATTGTATGTTGAGTTCACTTACATATCCCCAGCCCTAGGGTGGTGCCTCTGACATGGTGTGTGTCTAAAAGTAATTCAGTTGCATAAATAAATCACCTGCCTCCCCAGAGACCACAACAGGCAAGTCATCACAGCTTGTCACCTTAAAAAACTGAAATGCTAAAGCATGTGGCCATTACAGCTCTCATGTAAAAGCATTTGCAGACAACAGGGCCCTTATGACATCCAATAAACAGAAACAGCATTTTCTGTATATCTCGTCCACTTAACTGTGCACATTTAATTCTCACGAATACCTAGTCGCCTGCAGGGCTATTATTACCCACACTGTACACGTAAGAAAAAGAAGGCAAATGGAGAGAAAGTAGTTTCTCAGGAAACCAGTTACTCAATAAATAAGGCGAGAAGCCACGTTTCCGGGCTTAGAAGATGAACATTTTGCCCACTTTACTCATGTTTCCTTCTTGGGAATATTCTTAGGAATATAAATAATGGTTCAAACATGTTGACTTGTAAATTCGTACATTCATTCACCAAATATTTCTCAACTGCCGAATAGGTACTAGGGCCTGTGACAACACAAGGGATAAAGTGTTGAAGATGGGCAATTAGCTACATCATGTAGATAAATAACACTTGTCAGCCTATCACTTTACCTTTCTGTGCTCATGATCAATCATGACATTATGGGGCCTGACATCTCTGTGCATAATTCCCATGCTGTGACAATAATCCAGGGCCTGTGGGATGAACGGGTCAGAAAGGAGTTAGCCTGAATAATACGTAAGAGTCCTTTACTTTTCCCTCCATGTAAATTTTCCTTTTAGCCTCACAATACCCCTGGGATTCAAGCTGAGGACACAGTCACTTCCACAGCAATGCTTCAGAGACTTGTTCATGATCTCACAGTCAAGCAAACTCAGCTCTCTGAGCTTAGAGATCTTTTTCTGACACAGTTGTTTCAACATGTTTTCTGTCCTAAAAGACCCAAAGTATACCCAAATTGCACCACTTCAAATTTTTCTGTCTTGTCCAGATCCTAGATTATTTCCACAGACCCCTCAAAGAAAGAAAACAGATCTTTACTACAAACCTCTTATTCTAAGAACAGTAATTCTTTAGCCATTAAGAGTCTGTAACAGAGGTTGGCAGACCACAGGCCAAATTTGGCCTGATGTCTGCTTTTGTAAATAATGTTTTATTGCAACATAGCCATGCCTATTTGTTTGCATATTGTTTATGGTTGCTCTTGTGCAACAACAGCAGACTTGAATAGTGTGACAAACACTACATGGCCCACAAAGCCTAAAATATTTACTATTTGGCCCTTTAAAGAAGTTTGCCAATGCCTGATTTAGGTCATCAAATCCAATCTGAAATGTTTCCAACCTCAAACTAAAGGGAACTGAGTAGTATAATCTTTGGGGTTTGTTAATCCCAGCCTTTCAGTCAGCCGACGTTGTTGGCCAAATTCTTGTCCTTCCTGAAGGGCAACTTGGGTTCCTACAGTTCCCAGGGCTGGGCAATCATATCTGTAACTTTCTAAAGCCTTGCTTGCCACAAACTGCATGAGCCAATGGAAAGATCAAGTATCTCTGCTGGCACAATCTCCTCAGGGGATTTCTAAGGCTCCAACAGCAGGCTTTATGTCAACTCTTGTTTAGTAAGAAAGCTTAGCCAACTTTTAGCAATTCTCTCTTCTAGGAAGCTGATCTTGTGGCTACTGGGAACAAGATATTTGGTGACCCCACTTTAGAAATGTAAGTAAATTTTCAATTAGCATCTATAAGCAGAAATTTACACAATCCTTAGGACAATTACCCTTTGAGAACTGAGTTAAAGTTTACTGTTTTATTTGCTGACTCTTAAGTGAGATAAAGTATACCAGAAGCTAGCACGTCAGGTGTTTTCACGAGTTTTGAAAATTTAATATTAACTTACATAGGGGCCACAGAAATTACAAATATTTGTTAAGGGGTCAGTCCCAGCTATCTTACAAATACCCTTTTTCAAATTGTTCTAAATTATACTCCCACTAGACCCCATTCCATAACCCTTAGCACAAGGGTTCTGATACTATTATTATTAATTTTTATTTATTTATGTATTTAGAGACAGGGTCTTACTCTGTGCTACTGCACTCCAGCCTGTGCAACAATCATAGCTCACTGCTGCCTCAAATTCCTGAGATCCTCCTGTCACAGCCTCCCAAGTAGCTGGAATTACAAGCATAAGCCACCATACCCAGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTATGTTGCTCAGGCTGGTCTTGATCTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTTACAGGTGCACACCACCATGCCCAGGTAATTAAACAATTTTTTTTTGTAGAGATGGGGATCTCACTATGTCACCCAGGCTGGTCTTTTGATCTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTATGATACTATTAACTTATTAAAAACTTATATAGAGGTCCCTTCTTTCAACATACTTTACAAAGTTAATCTGCTGGCTTTTCTACCATCAATTGACTATTTAACAAAAAGAAGACCAATTTAAAAAATATTTAGTATTCAAGGTTCACTTACCTTCAGAATCTCATACATGTAAAATCGAATATCATAGTCTGTTAACGTCTGGTACAATTGCTGTTAAAGACAAATGTTTGAGC
Task1_train_27591
A mutation in CSNK2A1 (casein kinase 2 alpha 1), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Okur-Chung neurodevelopmental syndrome
ATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTCACCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCGTCATCTGCCTGCCTTGGCCTCCCAAAATGATTACAGGTGTGAGCCACTGCACCCAGCTTTTCCCCCCAATTTTAAGCTATTACAAATATAGTTGCATTCATATATAGGCTTTTGTGTGGACCTAAGATTTTGTTGCTCTGAGATAAATGCCACTGCAGGATTGTATGGTAAGCATATGTTTAGCTTTTCAAGAAACCAACCAACTATAAAACAATAGTTAAGCATTTTCCAAAATGCCAAACTTTGCATTCCTACCAGCAATGTATGAGAGATCAAGTTTCTTCACATTTTTGCCAGCACTTGGTACCATCACTATTTTTTATTTTAGCTGTTCTAATAAATGTGTAGTTAACTTTTAAATTTCAAGTGAGAACATGCTAAAGCTTAGAATATGCAAAAGCTCTCTATCTTCAGAGAAAAGGCCTAACAATGACCAATAAGGTTTTACATGATTTGGTTTTACCTCTTTGATTTCATTTCCTCCTTCTTTCCCCGCATTCATTCTGTCCCAGCTTTATCCTTGCTGCTGCTCTTCCAACATGCCAAACATATCCTTACCTGAAGGGCTTTTGTACTTGCTATTTACTCTGCCTTGGGACATGTTTCTTCATAAGACTGCATGGCTGGGTCCCTCCCAGTGCTCTCTAAAATGTCACCTTTCCAATGAAACCTTCCCTTATAACTGGTTTAAAACTGCAAATACCCTCTTGCCATTCCCTATTCGTTTTTTCTTCTACATCAAAATAACTTTCTATCCCACCAGCCTCCCTAAATGTAGCTCCTAAAAGACAAGCATTTATTGTATGTTGAGTTCACTTACATATCCCCAGCCCTAGGGTGGTGCCTCTGACATGGTGTGTGTCTAAAAGTAATTCAGTTGCATAAATAAATCACCTGCCTCCCCAGAGACCACAACAGGCAAGTCATCACAGCTTGTCACCTTAAAAAACTGAAATGCTAAAGCATGTGGCCATTACAGCTCTCATGTAAAAGCATTTGCAGACAACAGGGCCCTTATGACATCCAATAAACAGAAACAGCATTTTCTGTATATCTCGTCCACTTAACTGTGCACATTTAATTCTCACGAATACCTAGTCGCCTGCAGGGCTATTATTACCCACACTGTACACGTAAGAAAAAGAAGGCAAATGGAGAGAAAGTAGTTTCTCAGGAAACCAGTTACTCAATAAATAAGGCGAGAAGCCACGTTTCCGGGCTTAGAAGATGAACATTTTGCCCACTTTACTCATGTTTCCTTCTTGGGAATATTCTTAGGAATATAAATAATGGTTCAAACATGTTGACTTGTAAATTCGTACATTCATTCACCAAATATTTCTCAACTGCCGAATAGGTACTAGGGCCTGTGACAACACAAGGGATAAAGTGTTGAAGATGGGCAATTAGCTACATCATGTAGATAAATAACACTTGTCAGCCTATCACTTTACCTTTCTGTGCTCATGATCAATCATGACATTATGGGGCTTGACATCTCTGTGCATAATTCCCATGCTGTGACAATAATCCAGGGCCTGTGGGATGAACGGGTCAGAAAGGAGTTAGCCTGAATAATACGTAAGAGTCCTTTACTTTTCCCTCCATGTAAATTTTCCTTTTAGCCTCACAATACCCCTGGGATTCAAGCTGAGGACACAGTCACTTCCACAGCAATGCTTCAGAGACTTGTTCATGATCTCACAGTCAAGCAAACTCAGCTCTCTGAGCTTAGAGATCTTTTTCTGACACAGTTGTTTCAACATGTTTTCTGTCCTAAAAGACCCAAAGTATACCCAAATTGCACCACTTCAAATTTTTCTGTCTTGTCCAGATCCTAGATTATTTCCACAGACCCCTCAAAGAAAGAAAACAGATCTTTACTACAAACCTCTTATTCTAAGAACAGTAATTCTTTAGCCATTAAGAGTCTGTAACAGAGGTTGGCAGACCACAGGCCAAATTTGGCCTGATGTCTGCTTTTGTAAATAATGTTTTATTGCAACATAGCCATGCCTATTTGTTTGCATATTGTTTATGGTTGCTCTTGTGCAACAACAGCAGACTTGAATAGTGTGACAAACACTACATGGCCCACAAAGCCTAAAATATTTACTATTTGGCCCTTTAAAGAAGTTTGCCAATGCCTGATTTAGGTCATCAAATCCAATCTGAAATGTTTCCAACCTCAAACTAAAGGGAACTGAGTAGTATAATCTTTGGGGTTTGTTAATCCCAGCCTTTCAGTCAGCCGACGTTGTTGGCCAAATTCTTGTCCTTCCTGAAGGGCAACTTGGGTTCCTACAGTTCCCAGGGCTGGGCAATCATATCTGTAACTTTCTAAAGCCTTGCTTGCCACAAACTGCATGAGCCAATGGAAAGATCAAGTATCTCTGCTGGCACAATCTCCTCAGGGGATTTCTAAGGCTCCAACAGCAGGCTTTATGTCAACTCTTGTTTAGTAAGAAAGCTTAGCCAACTTTTAGCAATTCTCTCTTCTAGGAAGCTGATCTTGTGGCTACTGGGAACAAGATATTTGGTGACCCCACTTTAGAAATGTAAGTAAATTTTCAATTAGCATCTATAAGCAGAAATTTACACAATCCTTAGGACAATTACCCTTTGAGAACTGAGTTAAAGTTTACTGTTTTATTTGCTGACTCTTAAGTGAGATAAAGTATACCAGAAGCTAGCACGTCAGGTGTTTTCACGAGTTTTGAAAATTTAATATTAACTTACATAGGGGCCACAGAAATTACAAATATTTGTTAAGGGGTCAGTCCCAGCTATCTTACAAATACCCTTTTTCAAATTGTTCTAAATTATACTCCCACTAGACCCCATTCCATAACCCTTAGCACAAGGGTTCTGATACTATTATTATTAATTTTTATTTATTTATGTATTTAGAGACAGGGTCTTACTCTGTGCTACTGCACTCCAGCCTGTGCAACAATCATAGCTCACTGCTGCCTCAAATTCCTGAGATCCTCCTGTCACAGCCTCCCAAGTAGCTGGAATTACAAGCATAAGCCACCATACCCAGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTATGTTGCTCAGGCTGGTCTTGATCTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTTACAGGTGCACACCACCATGCCCAGGTAATTAAACAATTTTTTTTTGTAGAGATGGGGATCTCACTATGTCACCCAGGCTGGTCTTTTGATCTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTATGATACTATTAACTTATTAAAAACTTATATAGAGGTCCCTTCTTTCAACATACTTTACAAAGTTAATCTGCTGGCTTTTCTACCATCAATTGACTATTTAACAAAAAGAAGACCAATTTAAAAAATATTTAGTATTCAAGGTTCACTTACCTTCAGAATCTCATACATGTAAAATCGAATATCATAGTCTGTTAACGTCTGGTACAATTGCTGTTAAAGACAAATGTTTGAGCCATGAAA
ATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTCACCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCAGGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCGTCATCTGCCTGCCTTGGCCTCCCAAAATGATTACAGGTGTGAGCCACTGCACCCAGCTTTTCCCCCCAATTTTAAGCTATTACAAATATAGTTGCATTCATATATAGGCTTTTGTGTGGACCTAAGATTTTGTTGCTCTGAGATAAATGCCACTGCAGGATTGTATGGTAAGCATATGTTTAGCTTTTCAAGAAACCAACCAACTATAAAACAATAGTTAAGCATTTTCCAAAATGCCAAACTTTGCATTCCTACCAGCAATGTATGAGAGATCAAGTTTCTTCACATTTTTGCCAGCACTTGGTACCATCACTATTTTTTATTTTAGCTGTTCTAATAAATGTGTAGTTAACTTTTAAATTTCAAGTGAGAACATGCTAAAGCTTAGAATATGCAAAAGCTCTCTATCTTCAGAGAAAAGGCCTAACAATGACCAATAAGGTTTTACATGATTTGGTTTTACCTCTTTGATTTCATTTCCTCCTTCTTTCCCCGCATTCATTCTGTCCCAGCTTTATCCTTGCTGCTGCTCTTCCAACATGCCAAACATATCCTTACCTGAAGGGCTTTTGTACTTGCTATTTACTCTGCCTTGGGACATGTTTCTTCATAAGACTGCATGGCTGGGTCCCTCCCAGTGCTCTCTAAAATGTCACCTTTCCAATGAAACCTTCCCTTATAACTGGTTTAAAACTGCAAATACCCTCTTGCCATTCCCTATTCGTTTTTTCTTCTACATCAAAATAACTTTCTATCCCACCAGCCTCCCTAAATGTAGCTCCTAAAAGACAAGCATTTATTGTATGTTGAGTTCACTTACATATCCCCAGCCCTAGGGTGGTGCCTCTGACATGGTGTGTGTCTAAAAGTAATTCAGTTGCATAAATAAATCACCTGCCTCCCCAGAGACCACAACAGGCAAGTCATCACAGCTTGTCACCTTAAAAAACTGAAATGCTAAAGCATGTGGCCATTACAGCTCTCATGTAAAAGCATTTGCAGACAACAGGGCCCTTATGACATCCAATAAACAGAAACAGCATTTTCTGTATATCTCGTCCACTTAACTGTGCACATTTAATTCTCACGAATACCTAGTCGCCTGCAGGGCTATTATTACCCACACTGTACACGTAAGAAAAAGAAGGCAAATGGAGAGAAAGTAGTTTCTCAGGAAACCAGTTACTCAATAAATAAGGCGAGAAGCCACGTTTCCGGGCTTAGAAGATGAACATTTTGCCCACTTTACTCATGTTTCCTTCTTGGGAATATTCTTAGGAATATAAATAATGGTTCAAACATGTTGACTTGTAAATTCGTACATTCATTCACCAAATATTTCTCAACTGCCGAATAGGTACTAGGGCCTGTGACAACACAAGGGATAAAGTGTTGAAGATGGGCAATTAGCTACATCATGTAGATAAATAACACTTGTCAGCCTATCACTTTACCTTTCTGTGCTCATGATCAATCATGACATTATGGGGCTTGACATGTCTGTGCATAATTCCCATGCTGTGACAATAATCCAGGGCCTGTGGGATGAACGGGTCAGAAAGGAGTTAGCCTGAATAATACGTAAGAGTCCTTTACTTTTCCCTCCATGTAAATTTTCCTTTTAGCCTCACAATACCCCTGGGATTCAAGCTGAGGACACAGTCACTTCCACAGCAATGCTTCAGAGACTTGTTCATGATCTCACAGTCAAGCAAACTCAGCTCTCTGAGCTTAGAGATCTTTTTCTGACACAGTTGTTTCAACATGTTTTCTGTCCTAAAAGACCCAAAGTATACCCAAATTGCACCACTTCAAATTTTTCTGTCTTGTCCAGATCCTAGATTATTTCCACAGACCCCTCAAAGAAAGAAAACAGATCTTTACTACAAACCTCTTATTCTAAGAACAGTAATTCTTTAGCCATTAAGAGTCTGTAACAGAGGTTGGCAGACCACAGGCCAAATTTGGCCTGATGTCTGCTTTTGTAAATAATGTTTTATTGCAACATAGCCATGCCTATTTGTTTGCATATTGTTTATGGTTGCTCTTGTGCAACAACAGCAGACTTGAATAGTGTGACAAACACTACATGGCCCACAAAGCCTAAAATATTTACTATTTGGCCCTTTAAAGAAGTTTGCCAATGCCTGATTTAGGTCATCAAATCCAATCTGAAATGTTTCCAACCTCAAACTAAAGGGAACTGAGTAGTATAATCTTTGGGGTTTGTTAATCCCAGCCTTTCAGTCAGCCGACGTTGTTGGCCAAATTCTTGTCCTTCCTGAAGGGCAACTTGGGTTCCTACAGTTCCCAGGGCTGGGCAATCATATCTGTAACTTTCTAAAGCCTTGCTTGCCACAAACTGCATGAGCCAATGGAAAGATCAAGTATCTCTGCTGGCACAATCTCCTCAGGGGATTTCTAAGGCTCCAACAGCAGGCTTTATGTCAACTCTTGTTTAGTAAGAAAGCTTAGCCAACTTTTAGCAATTCTCTCTTCTAGGAAGCTGATCTTGTGGCTACTGGGAACAAGATATTTGGTGACCCCACTTTAGAAATGTAAGTAAATTTTCAATTAGCATCTATAAGCAGAAATTTACACAATCCTTAGGACAATTACCCTTTGAGAACTGAGTTAAAGTTTACTGTTTTATTTGCTGACTCTTAAGTGAGATAAAGTATACCAGAAGCTAGCACGTCAGGTGTTTTCACGAGTTTTGAAAATTTAATATTAACTTACATAGGGGCCACAGAAATTACAAATATTTGTTAAGGGGTCAGTCCCAGCTATCTTACAAATACCCTTTTTCAAATTGTTCTAAATTATACTCCCACTAGACCCCATTCCATAACCCTTAGCACAAGGGTTCTGATACTATTATTATTAATTTTTATTTATTTATGTATTTAGAGACAGGGTCTTACTCTGTGCTACTGCACTCCAGCCTGTGCAACAATCATAGCTCACTGCTGCCTCAAATTCCTGAGATCCTCCTGTCACAGCCTCCCAAGTAGCTGGAATTACAAGCATAAGCCACCATACCCAGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTATGTTGCTCAGGCTGGTCTTGATCTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTTACAGGTGCACACCACCATGCCCAGGTAATTAAACAATTTTTTTTTGTAGAGATGGGGATCTCACTATGTCACCCAGGCTGGTCTTTTGATCTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTATGATACTATTAACTTATTAAAAACTTATATAGAGGTCCCTTCTTTCAACATACTTTACAAAGTTAATCTGCTGGCTTTTCTACCATCAATTGACTATTTAACAAAAAGAAGACCAATTTAAAAAATATTTAGTATTCAAGGTTCACTTACCTTCAGAATCTCATACATGTAAAATCGAATATCATAGTCTGTTAACGTCTGGTACAATTGCTGTTAAAGACAAATGTTTGAGCCATGAAA
Task1_train_27592
Located on Chromosome 20, this mutation impacts CSNK2A1 (casein kinase 2 alpha 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Okur-Chung neurodevelopmental syndrome
ATTTTGTGTTTGATCCTTTTTGTTTTTTGAGACAGGGTCTCATTCTCATCGCCCAGGCTGGAGTGCAGTGGTTTGATCATAGATCCGTGCAACCTTCAACTTCCAGGCTCAAGCGATCCTCCCACTTTAGCCCCTCGAGGACCTGCGACTAAAGGCACATGCCACCATGCTCAGCCAACATTCTTTTTAATAGATGGATAAACATGTCCTAGGTTAAAAGGACTACTATGGCTAGTCACCCACATGTTTTGATTTCCAACCTAGTTCTCTTTCTACATATTTCAAGACAGATATAAATACTTAAACTCTCTGGTTCTCAAAGGGCATGTGAAGCACCCCAGCAATGCACAGGAATACTGTGGAACACTTTACATTTTTGAGGAAGACACATCAACCCATCGTTGAATCTGCCAGACACTGGGTGCACTGCCAGCTTGAGGTGGTTCGTAGTTTCAACATTAGATTGTGTTACACTCCTCGTGATGGATTGTGTTATACTCCTCGCGATGGCATATTTTTGTGAAGCTGGGTTTGCAGTAGTTGCTGTGGTAAAAAGCAAGTACTGCACAAAAATCAATGACAGGAAATGAGGGTGGTGGTGTCCAACCAATGACAACATTTGAAAAGCTATGCAGCAACAGGTCTACATAACCCAACAGTAACAAATTATAGTTATATAAGAACAAATTTAACTTTTTTCTTTTAATTTATGTGAATAACTTTTTAAATGGCTACCAAGTTGCTAAGATATAAATACTTAGCGGGCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCCCGTCTCTATTAAAATTACAAAAATTAGCCGGGCATTGCTGGCGTGCATCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAACAAAAACAAAAACAATAAAAAAAACAAAACTTACTTAGCTATTTGGACCTTGCTACTTAATACAGAGAACTATGAGGTATTTCTTGACTTAGGAGTACCGTGAAAAATTAAAGACAGTATAAGTGTTATAAATTGAGAAAGTTTGGAAACTTCTACTTTTCAGTGTCAAATATGAAAAAGTTCCTGTGGTAAGGAACTATATGCTAAGTTCCCAATATATGACAGTGCACAGCATAGTTATAACTAAATTAAAAGTTGTATATTGGTCTCCCAGAGGCCAAATCTGGCCTGTGCATTGTTTTTTTAAAATCTTGAGCCAACACTTAAAAGTCAGGAAAATTCATATACAAATATAAATTTCTGGCTTTTATTTGCAAAACAGAGTATCAAGCAACAATGGACTTGCATTACTGCAGGGCAATCATCAGCTTCAGCTGAGAAGCAGCTAACTCCTTTTGAAGAGGCATGTGTTTCCCAGTTTGTTTCAGTCCCTACCACTCACATCACCTAAGCAAGGGCAATTACACCCGACTAGCTGCACTAATATCATCTGTCTGTCCCCCTCGAGTCCTGTGACTCCTCATCTTTACAAAGTAGAGGCAATGATTTATTTATTGAAAACAAAAGCCTCATTATATAATGAAAAGTAAAGGAAATAAGTATTAGGCAATAACTGGGAGAGAAGAGACTGTACCTTTGCTCCCTTACTCTGCCACAACCTAGCTATATGAGTCAACTCAAATCACTTCTCTTGCTTCAGTTTCCCGATCTGTCAAATAAGCAGAACTTGTTCTATTGAGTTCATAGGATACAATAAAATTTTATTTATTTGCTTTGGCACCAAAAACCTTTTAAATGCTGTTTTAAAAAAGTCTTCAAAACTACTTTTAAAAATCTATATTCCAAATACCTCTGAAATTATCTCTTGTACTCACCTTGAGAATTTTAACAACAACTTTTTCATTATTTGTGATGTTGATGGCTTCAAATACTTCACTGTATTTACCTCGGCCTAATTTTCGAACCAGCTGGTAGTCATCTTGATTTCTGTGGACACAAACAAAATGACTTATAAACGGTCAAATTATCAGCATCAATTCAAATTACAGGAATCTATTACCAGCAGCTGTAATAGAAATAAGAAGTATTTCAAACAATTCCCAAATAGGTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTCTGCTGACTGCCAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGAATTTTTAGTAGAGACGGCGGGTCCTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCATTGTATTTTTTTTTTTTTTAAATTAGGCCAATTAAAATACGTGTGTTTCAAATCCTAGAATTAGAAAAACTTATACCTTTCAATTATTCTTTCTAATCCCAAACTGTTTACATCTTTATTGGCACATGACATGGAGCTGGCTTGTATTAAGGTTTGTTCTAAATACGTTTGTCTCCAACAAGAGACAGCTTTCCCCAAGAGAATAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTGCAAGCCCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCTAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGGAGAATAATTTTTATATATTCTTGTCCCTTAGTGCTTGGTCCAGTGTTGGCACTTAGCAGGAACTAAAAACATTTTGCAAGACTGTTTCAATCTAGCCACACTTTGGCAGCAGCTGATTTTTAACAGGCCTCTTTGAAGGTAAATGGCTTTCAAATGTATAGGCTTAATCTATTTGCCCTCCAGGGCAAGCTCTGGGGATAGTCCATGCGTAGTACGAAGCACATTATAGATTGTAAACTATAATCAGCGATCCCCTCCTCTACATATACCCATATTCTGTGACCAATAAGCAACATCAGAGGTAATAAACAGAGGTAGAATAAGGGAAATGCCAACATTTTCCTCCTGCCCCTGCCTGCTTCCAATGTAGAGCGCTTTGCTCTGAAGAATGACAAACACAGTTCCAATAAGGCCTAAATTCTATCCTACTGGATAGAATCCTCTGGACCTACTAAGTATCCAATATGAACCAAATCAACCACCTCAACCATTCATTTTCCTCAAGTAGCTAAAAAGAAAGTGAATGAAAAGACAAAAGGTACTAAAAACAATGGACAACATAATAATCATGGCAGGTGTAGGGGAAGAATGCTCCTACTTCTGGTTGAGTTCTCTTCCTATGGGAGGGCATACAAAACAAATGCCAGCAAGCAAACAGAACCATGCCAAAAGCCCAAAAGGGCTCTTTAGTGCCATTTAAGCAGAACCAAGTGCAAAGCACTCAATTTGAAGATAGCGGCTGAAATTCCTATAGTAAACACAGTGTCACCTAGAGTCCAAAGCCTGTGACATAAGAGGAGAATTGTTAGATTATCAGTAATAACAACATTTATTGGTACTAAACCACACTGGCATTTAATGGTGTCTTTACAGCATACAGTGCCTCTGTATTCAGAGGCAATGTATTTACTGTTAAGAATCATGGCATACTCAAATTAGCTGGGTAGGGTGGAAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGTGGGAGAATCACGTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCACT
ATTTTGTGTTTGATCCTTTTTGTTTTTTGAGACAGGGTCTCATTCTCATCGCCCAGGCTGGAGTGCAGTGGTTTGATCATAGATCCGTGCAACCTTCAACTTCCAGGCTCAAGCGATCCTCCCACTTTAGCCCCTCGAGGACCTGCGACTAAAGGCACATGCCACCATGCTCAGCCAACATTCTTTTTAATAGATGGATAAACATGTCCTAGGTTAAAAGGACTACTATGGCTAGTCACCCACATGTTTTGATTTCCAACCTAGTTCTCTTTCTACATATTTCAAGACAGATATAAATACTTAAACTCTCTGGTTCTCAAAGGGCATGTGAAGCACCCCAGCAATGCACAGGAATACTGTGGAACACTTTACATTTTTGAGGAAGACACATCAACCCATCGTTGAATCTGCCAGACACTGGGTGCACTGCCAGCTTGAGGTGGTTCGTAGTTTCAACATTAGATTGTGTTACACTCCTCGTGATGGATTGTGTTATACTCCTCGCGATGGCATATTTTTGTGAAGCTGGGTTTGCAGTAGTTGCTGTGGTAAAAAGCAAGTACTGCACAAAAATCAATGACAGGAAATGAGGGTGGTGGTGTCCAACCAATGACAACATTTGAAAAGCTATGCAGCAACAGGTCTACATAACCCAACAGTAACAAATTATAGTTATATAAGAACAAATTTAACTTTTTTCTTTTAATTTATGTGAATAACTTTTTAAATGGCTACCAAGTTGCTAAGATATAAATACTTAGCGGGCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCCCGTCTCTATTAAAATTACAAAAATTAGCCGGGCATTGCTGGCGTGCATCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAACAAAAACAAAAACAATAAAAAAAACAAAACTTACTTAGCTATTTGGACCTTGCTACTTAATACAGAGAACTATGAGGTATTTCTTGACTTAGGAGTACCGTGAAAAATTAAAGACAGTATAAGTGTTATAAATTGAGAAAGTTTGGAAACTTCTACTTTTCAGTGTCAAATATGAAAAAGTTCCTGTGGTAAGGAACTATATGCTAAGTTCCCAATATATGACAGTGCACAGCATAGTTATAACTAAATTAAAAGTTGTATATTGGTCTCCCAGAGGCCAAATCTGGCCTGTGCATTGTTTTTTTAAAATCTTGAGCCAACACTTAAAAGTCAGGAAAATTCATATACAAATATAAATTTCTGGCTTTTATTTGCAAAACAGAGTATCAAGCAACAATGGACTTGCATTACTGCAGGGCAATCATCAGCTTCAGCTGAGAAGCAGCTAACTCCTTTTGAAGAGGCATGTGTTTCCCAGTTTGTTTCAGTCCCTACCACTCACATCACCTAAGCAAGGGCAATTACACCCGACTAGCTGCACTAATATCATCTGTCTGTCCCCCTCGAGTCCTGTGACTCCTCATCTTTACAAAGTAGAGGCAATGATTTATTTATTGAAAACAAAAGCCTCATTATATAATGAAAAGTAAAGGAAATAAGTATTAGGCAATAACTGGGAGAGAAGAGACTGTACCTTTGCTCCCTTACTCTGCCACAACCTAGCTATATGAGTCAACTCAAATCACTTCTCTTGCTTCAGTTTCCCGATCTGTCAAATAAGCAGAACTTGTTCTATTGAGTTCATAGGATACAATAAAATTTTATTTATTTGCTTTGGCACCAAAAACCTTTTAAATGCTGTTTTAAAAAAGTCTTCAAAACTACTTTTAAAAATCTATATTCCAAATACCTCTGAAATTATCTCTTGTACTCACCTTGAGAATTTTAACAACAACTTTTTCATTATTTGTGATGTTGATGGCTTCAAATACTTCACTGGATTTACCTCGGCCTAATTTTCGAACCAGCTGGTAGTCATCTTGATTTCTGTGGACACAAACAAAATGACTTATAAACGGTCAAATTATCAGCATCAATTCAAATTACAGGAATCTATTACCAGCAGCTGTAATAGAAATAAGAAGTATTTCAAACAATTCCCAAATAGGTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTCTGCTGACTGCCAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGAATTTTTAGTAGAGACGGCGGGTCCTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCATTGTATTTTTTTTTTTTTTAAATTAGGCCAATTAAAATACGTGTGTTTCAAATCCTAGAATTAGAAAAACTTATACCTTTCAATTATTCTTTCTAATCCCAAACTGTTTACATCTTTATTGGCACATGACATGGAGCTGGCTTGTATTAAGGTTTGTTCTAAATACGTTTGTCTCCAACAAGAGACAGCTTTCCCCAAGAGAATAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTGCAAGCCCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCTAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGGAGAATAATTTTTATATATTCTTGTCCCTTAGTGCTTGGTCCAGTGTTGGCACTTAGCAGGAACTAAAAACATTTTGCAAGACTGTTTCAATCTAGCCACACTTTGGCAGCAGCTGATTTTTAACAGGCCTCTTTGAAGGTAAATGGCTTTCAAATGTATAGGCTTAATCTATTTGCCCTCCAGGGCAAGCTCTGGGGATAGTCCATGCGTAGTACGAAGCACATTATAGATTGTAAACTATAATCAGCGATCCCCTCCTCTACATATACCCATATTCTGTGACCAATAAGCAACATCAGAGGTAATAAACAGAGGTAGAATAAGGGAAATGCCAACATTTTCCTCCTGCCCCTGCCTGCTTCCAATGTAGAGCGCTTTGCTCTGAAGAATGACAAACACAGTTCCAATAAGGCCTAAATTCTATCCTACTGGATAGAATCCTCTGGACCTACTAAGTATCCAATATGAACCAAATCAACCACCTCAACCATTCATTTTCCTCAAGTAGCTAAAAAGAAAGTGAATGAAAAGACAAAAGGTACTAAAAACAATGGACAACATAATAATCATGGCAGGTGTAGGGGAAGAATGCTCCTACTTCTGGTTGAGTTCTCTTCCTATGGGAGGGCATACAAAACAAATGCCAGCAAGCAAACAGAACCATGCCAAAAGCCCAAAAGGGCTCTTTAGTGCCATTTAAGCAGAACCAAGTGCAAAGCACTCAATTTGAAGATAGCGGCTGAAATTCCTATAGTAAACACAGTGTCACCTAGAGTCCAAAGCCTGTGACATAAGAGGAGAATTGTTAGATTATCAGTAATAACAACATTTATTGGTACTAAACCACACTGGCATTTAATGGTGTCTTTACAGCATACAGTGCCTCTGTATTCAGAGGCAATGTATTTACTGTTAAGAATCATGGCATACTCAAATTAGCTGGGTAGGGTGGAAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGTGGGAGAATCACGTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCACT
Task1_train_27593
Gene CSNK2A1 (casein kinase 2 alpha 1) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; not provided
GTTTGATCCTTTTTGTTTTTTGAGACAGGGTCTCATTCTCATCGCCCAGGCTGGAGTGCAGTGGTTTGATCATAGATCCGTGCAACCTTCAACTTCCAGGCTCAAGCGATCCTCCCACTTTAGCCCCTCGAGGACCTGCGACTAAAGGCACATGCCACCATGCTCAGCCAACATTCTTTTTAATAGATGGATAAACATGTCCTAGGTTAAAAGGACTACTATGGCTAGTCACCCACATGTTTTGATTTCCAACCTAGTTCTCTTTCTACATATTTCAAGACAGATATAAATACTTAAACTCTCTGGTTCTCAAAGGGCATGTGAAGCACCCCAGCAATGCACAGGAATACTGTGGAACACTTTACATTTTTGAGGAAGACACATCAACCCATCGTTGAATCTGCCAGACACTGGGTGCACTGCCAGCTTGAGGTGGTTCGTAGTTTCAACATTAGATTGTGTTACACTCCTCGTGATGGATTGTGTTATACTCCTCGCGATGGCATATTTTTGTGAAGCTGGGTTTGCAGTAGTTGCTGTGGTAAAAAGCAAGTACTGCACAAAAATCAATGACAGGAAATGAGGGTGGTGGTGTCCAACCAATGACAACATTTGAAAAGCTATGCAGCAACAGGTCTACATAACCCAACAGTAACAAATTATAGTTATATAAGAACAAATTTAACTTTTTTCTTTTAATTTATGTGAATAACTTTTTAAATGGCTACCAAGTTGCTAAGATATAAATACTTAGCGGGCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCCCGTCTCTATTAAAATTACAAAAATTAGCCGGGCATTGCTGGCGTGCATCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAACAAAAACAAAAACAATAAAAAAAACAAAACTTACTTAGCTATTTGGACCTTGCTACTTAATACAGAGAACTATGAGGTATTTCTTGACTTAGGAGTACCGTGAAAAATTAAAGACAGTATAAGTGTTATAAATTGAGAAAGTTTGGAAACTTCTACTTTTCAGTGTCAAATATGAAAAAGTTCCTGTGGTAAGGAACTATATGCTAAGTTCCCAATATATGACAGTGCACAGCATAGTTATAACTAAATTAAAAGTTGTATATTGGTCTCCCAGAGGCCAAATCTGGCCTGTGCATTGTTTTTTTAAAATCTTGAGCCAACACTTAAAAGTCAGGAAAATTCATATACAAATATAAATTTCTGGCTTTTATTTGCAAAACAGAGTATCAAGCAACAATGGACTTGCATTACTGCAGGGCAATCATCAGCTTCAGCTGAGAAGCAGCTAACTCCTTTTGAAGAGGCATGTGTTTCCCAGTTTGTTTCAGTCCCTACCACTCACATCACCTAAGCAAGGGCAATTACACCCGACTAGCTGCACTAATATCATCTGTCTGTCCCCCTCGAGTCCTGTGACTCCTCATCTTTACAAAGTAGAGGCAATGATTTATTTATTGAAAACAAAAGCCTCATTATATAATGAAAAGTAAAGGAAATAAGTATTAGGCAATAACTGGGAGAGAAGAGACTGTACCTTTGCTCCCTTACTCTGCCACAACCTAGCTATATGAGTCAACTCAAATCACTTCTCTTGCTTCAGTTTCCCGATCTGTCAAATAAGCAGAACTTGTTCTATTGAGTTCATAGGATACAATAAAATTTTATTTATTTGCTTTGGCACCAAAAACCTTTTAAATGCTGTTTTAAAAAAGTCTTCAAAACTACTTTTAAAAATCTATATTCCAAATACCTCTGAAATTATCTCTTGTACTCACCTTGAGAATTTTAACAACAACTTTTTCATTATTTGTGATGTTGATGGCTTCAAATACTTCACTGTATTTACCTCGGCCTAATTTTCGAACCAGCTGGTAGTCATCTTGATTTCTGTGGACACAAACAAAATGACTTATAAACGGTCAAATTATCAGCATCAATTCAAATTACAGGAATCTATTACCAGCAGCTGTAATAGAAATAAGAAGTATTTCAAACAATTCCCAAATAGGTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTCTGCTGACTGCCAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGAATTTTTAGTAGAGACGGCGGGTCCTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCATTGTATTTTTTTTTTTTTTAAATTAGGCCAATTAAAATACGTGTGTTTCAAATCCTAGAATTAGAAAAACTTATACCTTTCAATTATTCTTTCTAATCCCAAACTGTTTACATCTTTATTGGCACATGACATGGAGCTGGCTTGTATTAAGGTTTGTTCTAAATACGTTTGTCTCCAACAAGAGACAGCTTTCCCCAAGAGAATAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTGCAAGCCCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCTAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGGAGAATAATTTTTATATATTCTTGTCCCTTAGTGCTTGGTCCAGTGTTGGCACTTAGCAGGAACTAAAAACATTTTGCAAGACTGTTTCAATCTAGCCACACTTTGGCAGCAGCTGATTTTTAACAGGCCTCTTTGAAGGTAAATGGCTTTCAAATGTATAGGCTTAATCTATTTGCCCTCCAGGGCAAGCTCTGGGGATAGTCCATGCGTAGTACGAAGCACATTATAGATTGTAAACTATAATCAGCGATCCCCTCCTCTACATATACCCATATTCTGTGACCAATAAGCAACATCAGAGGTAATAAACAGAGGTAGAATAAGGGAAATGCCAACATTTTCCTCCTGCCCCTGCCTGCTTCCAATGTAGAGCGCTTTGCTCTGAAGAATGACAAACACAGTTCCAATAAGGCCTAAATTCTATCCTACTGGATAGAATCCTCTGGACCTACTAAGTATCCAATATGAACCAAATCAACCACCTCAACCATTCATTTTCCTCAAGTAGCTAAAAAGAAAGTGAATGAAAAGACAAAAGGTACTAAAAACAATGGACAACATAATAATCATGGCAGGTGTAGGGGAAGAATGCTCCTACTTCTGGTTGAGTTCTCTTCCTATGGGAGGGCATACAAAACAAATGCCAGCAAGCAAACAGAACCATGCCAAAAGCCCAAAAGGGCTCTTTAGTGCCATTTAAGCAGAACCAAGTGCAAAGCACTCAATTTGAAGATAGCGGCTGAAATTCCTATAGTAAACACAGTGTCACCTAGAGTCCAAAGCCTGTGACATAAGAGGAGAATTGTTAGATTATCAGTAATAACAACATTTATTGGTACTAAACCACACTGGCATTTAATGGTGTCTTTACAGCATACAGTGCCTCTGTATTCAGAGGCAATGTATTTACTGTTAAGAATCATGGCATACTCAAATTAGCTGGGTAGGGTGGAAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGTGGGAGAATCACGTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCACTGCAGCCA
GTTTGATCCTTTTTGTTTTTTGAGACAGGGTCTCATTCTCATCGCCCAGGCTGGAGTGCAGTGGTTTGATCATAGATCCGTGCAACCTTCAACTTCCAGGCTCAAGCGATCCTCCCACTTTAGCCCCTCGAGGACCTGCGACTAAAGGCACATGCCACCATGCTCAGCCAACATTCTTTTTAATAGATGGATAAACATGTCCTAGGTTAAAAGGACTACTATGGCTAGTCACCCACATGTTTTGATTTCCAACCTAGTTCTCTTTCTACATATTTCAAGACAGATATAAATACTTAAACTCTCTGGTTCTCAAAGGGCATGTGAAGCACCCCAGCAATGCACAGGAATACTGTGGAACACTTTACATTTTTGAGGAAGACACATCAACCCATCGTTGAATCTGCCAGACACTGGGTGCACTGCCAGCTTGAGGTGGTTCGTAGTTTCAACATTAGATTGTGTTACACTCCTCGTGATGGATTGTGTTATACTCCTCGCGATGGCATATTTTTGTGAAGCTGGGTTTGCAGTAGTTGCTGTGGTAAAAAGCAAGTACTGCACAAAAATCAATGACAGGAAATGAGGGTGGTGGTGTCCAACCAATGACAACATTTGAAAAGCTATGCAGCAACAGGTCTACATAACCCAACAGTAACAAATTATAGTTATATAAGAACAAATTTAACTTTTTTCTTTTAATTTATGTGAATAACTTTTTAAATGGCTACCAAGTTGCTAAGATATAAATACTTAGCGGGCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCCCGTCTCTATTAAAATTACAAAAATTAGCCGGGCATTGCTGGCGTGCATCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAACAAAAACAAAAACAATAAAAAAAACAAAACTTACTTAGCTATTTGGACCTTGCTACTTAATACAGAGAACTATGAGGTATTTCTTGACTTAGGAGTACCGTGAAAAATTAAAGACAGTATAAGTGTTATAAATTGAGAAAGTTTGGAAACTTCTACTTTTCAGTGTCAAATATGAAAAAGTTCCTGTGGTAAGGAACTATATGCTAAGTTCCCAATATATGACAGTGCACAGCATAGTTATAACTAAATTAAAAGTTGTATATTGGTCTCCCAGAGGCCAAATCTGGCCTGTGCATTGTTTTTTTAAAATCTTGAGCCAACACTTAAAAGTCAGGAAAATTCATATACAAATATAAATTTCTGGCTTTTATTTGCAAAACAGAGTATCAAGCAACAATGGACTTGCATTACTGCAGGGCAATCATCAGCTTCAGCTGAGAAGCAGCTAACTCCTTTTGAAGAGGCATGTGTTTCCCAGTTTGTTTCAGTCCCTACCACTCACATCACCTAAGCAAGGGCAATTACACCCGACTAGCTGCACTAATATCATCTGTCTGTCCCCCTCGAGTCCTGTGACTCCTCATCTTTACAAAGTAGAGGCAATGATTTATTTATTGAAAACAAAAGCCTCATTATATAATGAAAAGTAAAGGAAATAAGTATTAGGCAATAACTGGGAGAGAAGAGACTGTACCTTTGCTCCCTTACTCTGCCACAACCTAGCTATATGAGTCAACTCAAATCACTTCTCTTGCTTCAGTTTCCCGATCTGTCAAATAAGCAGAACTTGTTCTATTGAGTTCATAGGATACAATAAAATTTTATTTATTTGCTTTGGCACCAAAAACCTTTTAAATGCTGTTTTAAAAAAGTCTTCAAAACTACTTTTAAAAATCTATATTCCAAATACCTCTGAAATTATCTCTTGTACTCACCTTGAGAATTTTAACAACAACTTTTTCATTATTTGTGATGTTGATGGCTTCAAATACTTCACTGTATTTACTTCGGCCTAATTTTCGAACCAGCTGGTAGTCATCTTGATTTCTGTGGACACAAACAAAATGACTTATAAACGGTCAAATTATCAGCATCAATTCAAATTACAGGAATCTATTACCAGCAGCTGTAATAGAAATAAGAAGTATTTCAAACAATTCCCAAATAGGTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTCTGCTGACTGCCAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGAATTTTTAGTAGAGACGGCGGGTCCTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCATTGTATTTTTTTTTTTTTTAAATTAGGCCAATTAAAATACGTGTGTTTCAAATCCTAGAATTAGAAAAACTTATACCTTTCAATTATTCTTTCTAATCCCAAACTGTTTACATCTTTATTGGCACATGACATGGAGCTGGCTTGTATTAAGGTTTGTTCTAAATACGTTTGTCTCCAACAAGAGACAGCTTTCCCCAAGAGAATAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTGCAAGCCCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCTAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGGAGAATAATTTTTATATATTCTTGTCCCTTAGTGCTTGGTCCAGTGTTGGCACTTAGCAGGAACTAAAAACATTTTGCAAGACTGTTTCAATCTAGCCACACTTTGGCAGCAGCTGATTTTTAACAGGCCTCTTTGAAGGTAAATGGCTTTCAAATGTATAGGCTTAATCTATTTGCCCTCCAGGGCAAGCTCTGGGGATAGTCCATGCGTAGTACGAAGCACATTATAGATTGTAAACTATAATCAGCGATCCCCTCCTCTACATATACCCATATTCTGTGACCAATAAGCAACATCAGAGGTAATAAACAGAGGTAGAATAAGGGAAATGCCAACATTTTCCTCCTGCCCCTGCCTGCTTCCAATGTAGAGCGCTTTGCTCTGAAGAATGACAAACACAGTTCCAATAAGGCCTAAATTCTATCCTACTGGATAGAATCCTCTGGACCTACTAAGTATCCAATATGAACCAAATCAACCACCTCAACCATTCATTTTCCTCAAGTAGCTAAAAAGAAAGTGAATGAAAAGACAAAAGGTACTAAAAACAATGGACAACATAATAATCATGGCAGGTGTAGGGGAAGAATGCTCCTACTTCTGGTTGAGTTCTCTTCCTATGGGAGGGCATACAAAACAAATGCCAGCAAGCAAACAGAACCATGCCAAAAGCCCAAAAGGGCTCTTTAGTGCCATTTAAGCAGAACCAAGTGCAAAGCACTCAATTTGAAGATAGCGGCTGAAATTCCTATAGTAAACACAGTGTCACCTAGAGTCCAAAGCCTGTGACATAAGAGGAGAATTGTTAGATTATCAGTAATAACAACATTTATTGGTACTAAACCACACTGGCATTTAATGGTGTCTTTACAGCATACAGTGCCTCTGTATTCAGAGGCAATGTATTTACTGTTAAGAATCATGGCATACTCAAATTAGCTGGGTAGGGTGGAAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGTGGGAGAATCACGTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCACTGCAGCCA
Task1_train_27594
Here’s a variant in CSNK2A1 (casein kinase 2 alpha 1) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not provided
TGATCCTTTTTGTTTTTTGAGACAGGGTCTCATTCTCATCGCCCAGGCTGGAGTGCAGTGGTTTGATCATAGATCCGTGCAACCTTCAACTTCCAGGCTCAAGCGATCCTCCCACTTTAGCCCCTCGAGGACCTGCGACTAAAGGCACATGCCACCATGCTCAGCCAACATTCTTTTTAATAGATGGATAAACATGTCCTAGGTTAAAAGGACTACTATGGCTAGTCACCCACATGTTTTGATTTCCAACCTAGTTCTCTTTCTACATATTTCAAGACAGATATAAATACTTAAACTCTCTGGTTCTCAAAGGGCATGTGAAGCACCCCAGCAATGCACAGGAATACTGTGGAACACTTTACATTTTTGAGGAAGACACATCAACCCATCGTTGAATCTGCCAGACACTGGGTGCACTGCCAGCTTGAGGTGGTTCGTAGTTTCAACATTAGATTGTGTTACACTCCTCGTGATGGATTGTGTTATACTCCTCGCGATGGCATATTTTTGTGAAGCTGGGTTTGCAGTAGTTGCTGTGGTAAAAAGCAAGTACTGCACAAAAATCAATGACAGGAAATGAGGGTGGTGGTGTCCAACCAATGACAACATTTGAAAAGCTATGCAGCAACAGGTCTACATAACCCAACAGTAACAAATTATAGTTATATAAGAACAAATTTAACTTTTTTCTTTTAATTTATGTGAATAACTTTTTAAATGGCTACCAAGTTGCTAAGATATAAATACTTAGCGGGCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCCCGTCTCTATTAAAATTACAAAAATTAGCCGGGCATTGCTGGCGTGCATCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAACAAAAACAAAAACAATAAAAAAAACAAAACTTACTTAGCTATTTGGACCTTGCTACTTAATACAGAGAACTATGAGGTATTTCTTGACTTAGGAGTACCGTGAAAAATTAAAGACAGTATAAGTGTTATAAATTGAGAAAGTTTGGAAACTTCTACTTTTCAGTGTCAAATATGAAAAAGTTCCTGTGGTAAGGAACTATATGCTAAGTTCCCAATATATGACAGTGCACAGCATAGTTATAACTAAATTAAAAGTTGTATATTGGTCTCCCAGAGGCCAAATCTGGCCTGTGCATTGTTTTTTTAAAATCTTGAGCCAACACTTAAAAGTCAGGAAAATTCATATACAAATATAAATTTCTGGCTTTTATTTGCAAAACAGAGTATCAAGCAACAATGGACTTGCATTACTGCAGGGCAATCATCAGCTTCAGCTGAGAAGCAGCTAACTCCTTTTGAAGAGGCATGTGTTTCCCAGTTTGTTTCAGTCCCTACCACTCACATCACCTAAGCAAGGGCAATTACACCCGACTAGCTGCACTAATATCATCTGTCTGTCCCCCTCGAGTCCTGTGACTCCTCATCTTTACAAAGTAGAGGCAATGATTTATTTATTGAAAACAAAAGCCTCATTATATAATGAAAAGTAAAGGAAATAAGTATTAGGCAATAACTGGGAGAGAAGAGACTGTACCTTTGCTCCCTTACTCTGCCACAACCTAGCTATATGAGTCAACTCAAATCACTTCTCTTGCTTCAGTTTCCCGATCTGTCAAATAAGCAGAACTTGTTCTATTGAGTTCATAGGATACAATAAAATTTTATTTATTTGCTTTGGCACCAAAAACCTTTTAAATGCTGTTTTAAAAAAGTCTTCAAAACTACTTTTAAAAATCTATATTCCAAATACCTCTGAAATTATCTCTTGTACTCACCTTGAGAATTTTAACAACAACTTTTTCATTATTTGTGATGTTGATGGCTTCAAATACTTCACTGTATTTACCTCGGCCTAATTTTCGAACCAGCTGGTAGTCATCTTGATTTCTGTGGACACAAACAAAATGACTTATAAACGGTCAAATTATCAGCATCAATTCAAATTACAGGAATCTATTACCAGCAGCTGTAATAGAAATAAGAAGTATTTCAAACAATTCCCAAATAGGTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTCTGCTGACTGCCAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGAATTTTTAGTAGAGACGGCGGGTCCTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCATTGTATTTTTTTTTTTTTTAAATTAGGCCAATTAAAATACGTGTGTTTCAAATCCTAGAATTAGAAAAACTTATACCTTTCAATTATTCTTTCTAATCCCAAACTGTTTACATCTTTATTGGCACATGACATGGAGCTGGCTTGTATTAAGGTTTGTTCTAAATACGTTTGTCTCCAACAAGAGACAGCTTTCCCCAAGAGAATAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTGCAAGCCCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCTAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGGAGAATAATTTTTATATATTCTTGTCCCTTAGTGCTTGGTCCAGTGTTGGCACTTAGCAGGAACTAAAAACATTTTGCAAGACTGTTTCAATCTAGCCACACTTTGGCAGCAGCTGATTTTTAACAGGCCTCTTTGAAGGTAAATGGCTTTCAAATGTATAGGCTTAATCTATTTGCCCTCCAGGGCAAGCTCTGGGGATAGTCCATGCGTAGTACGAAGCACATTATAGATTGTAAACTATAATCAGCGATCCCCTCCTCTACATATACCCATATTCTGTGACCAATAAGCAACATCAGAGGTAATAAACAGAGGTAGAATAAGGGAAATGCCAACATTTTCCTCCTGCCCCTGCCTGCTTCCAATGTAGAGCGCTTTGCTCTGAAGAATGACAAACACAGTTCCAATAAGGCCTAAATTCTATCCTACTGGATAGAATCCTCTGGACCTACTAAGTATCCAATATGAACCAAATCAACCACCTCAACCATTCATTTTCCTCAAGTAGCTAAAAAGAAAGTGAATGAAAAGACAAAAGGTACTAAAAACAATGGACAACATAATAATCATGGCAGGTGTAGGGGAAGAATGCTCCTACTTCTGGTTGAGTTCTCTTCCTATGGGAGGGCATACAAAACAAATGCCAGCAAGCAAACAGAACCATGCCAAAAGCCCAAAAGGGCTCTTTAGTGCCATTTAAGCAGAACCAAGTGCAAAGCACTCAATTTGAAGATAGCGGCTGAAATTCCTATAGTAAACACAGTGTCACCTAGAGTCCAAAGCCTGTGACATAAGAGGAGAATTGTTAGATTATCAGTAATAACAACATTTATTGGTACTAAACCACACTGGCATTTAATGGTGTCTTTACAGCATACAGTGCCTCTGTATTCAGAGGCAATGTATTTACTGTTAAGAATCATGGCATACTCAAATTAGCTGGGTAGGGTGGAAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGTGGGAGAATCACGTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCACTGCAGCCAGGG
TGATCCTTTTTGTTTTTTGAGACAGGGTCTCATTCTCATCGCCCAGGCTGGAGTGCAGTGGTTTGATCATAGATCCGTGCAACCTTCAACTTCCAGGCTCAAGCGATCCTCCCACTTTAGCCCCTCGAGGACCTGCGACTAAAGGCACATGCCACCATGCTCAGCCAACATTCTTTTTAATAGATGGATAAACATGTCCTAGGTTAAAAGGACTACTATGGCTAGTCACCCACATGTTTTGATTTCCAACCTAGTTCTCTTTCTACATATTTCAAGACAGATATAAATACTTAAACTCTCTGGTTCTCAAAGGGCATGTGAAGCACCCCAGCAATGCACAGGAATACTGTGGAACACTTTACATTTTTGAGGAAGACACATCAACCCATCGTTGAATCTGCCAGACACTGGGTGCACTGCCAGCTTGAGGTGGTTCGTAGTTTCAACATTAGATTGTGTTACACTCCTCGTGATGGATTGTGTTATACTCCTCGCGATGGCATATTTTTGTGAAGCTGGGTTTGCAGTAGTTGCTGTGGTAAAAAGCAAGTACTGCACAAAAATCAATGACAGGAAATGAGGGTGGTGGTGTCCAACCAATGACAACATTTGAAAAGCTATGCAGCAACAGGTCTACATAACCCAACAGTAACAAATTATAGTTATATAAGAACAAATTTAACTTTTTTCTTTTAATTTATGTGAATAACTTTTTAAATGGCTACCAAGTTGCTAAGATATAAATACTTAGCGGGCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCCCGTCTCTATTAAAATTACAAAAATTAGCCGGGCATTGCTGGCGTGCATCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAACAAAAACAAAAACAATAAAAAAAACAAAACTTACTTAGCTATTTGGACCTTGCTACTTAATACAGAGAACTATGAGGTATTTCTTGACTTAGGAGTACCGTGAAAAATTAAAGACAGTATAAGTGTTATAAATTGAGAAAGTTTGGAAACTTCTACTTTTCAGTGTCAAATATGAAAAAGTTCCTGTGGTAAGGAACTATATGCTAAGTTCCCAATATATGACAGTGCACAGCATAGTTATAACTAAATTAAAAGTTGTATATTGGTCTCCCAGAGGCCAAATCTGGCCTGTGCATTGTTTTTTTAAAATCTTGAGCCAACACTTAAAAGTCAGGAAAATTCATATACAAATATAAATTTCTGGCTTTTATTTGCAAAACAGAGTATCAAGCAACAATGGACTTGCATTACTGCAGGGCAATCATCAGCTTCAGCTGAGAAGCAGCTAACTCCTTTTGAAGAGGCATGTGTTTCCCAGTTTGTTTCAGTCCCTACCACTCACATCACCTAAGCAAGGGCAATTACACCCGACTAGCTGCACTAATATCATCTGTCTGTCCCCCTCGAGTCCTGTGACTCCTCATCTTTACAAAGTAGAGGCAATGATTTATTTATTGAAAACAAAAGCCTCATTATATAATGAAAAGTAAAGGAAATAAGTATTAGGCAATAACTGGGAGAGAAGAGACTGTACCTTTGCTCCCTTACTCTGCCACAACCTAGCTATATGAGTCAACTCAAATCACTTCTCTTGCTTCAGTTTCCCGATCTGTCAAATAAGCAGAACTTGTTCTATTGAGTTCATAGGATACAATAAAATTTTATTTATTTGCTTTGGCACCAAAAACCTTTTAAATGCTGTTTTAAAAAAGTCTTCAAAACTACTTTTAAAAATCTATATTCCAAATACCTCTGAAATTATCTCTTGTACTCACCTTGAGAATTTTAACAACAACTTTTTCATTATTTGTGATGTTGATGGCTTCAAATACTTCACTGTATTTACCTCCGCCTAATTTTCGAACCAGCTGGTAGTCATCTTGATTTCTGTGGACACAAACAAAATGACTTATAAACGGTCAAATTATCAGCATCAATTCAAATTACAGGAATCTATTACCAGCAGCTGTAATAGAAATAAGAAGTATTTCAAACAATTCCCAAATAGGTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTCTGCTGACTGCCAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGAATTTTTAGTAGAGACGGCGGGTCCTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCATTGTATTTTTTTTTTTTTTAAATTAGGCCAATTAAAATACGTGTGTTTCAAATCCTAGAATTAGAAAAACTTATACCTTTCAATTATTCTTTCTAATCCCAAACTGTTTACATCTTTATTGGCACATGACATGGAGCTGGCTTGTATTAAGGTTTGTTCTAAATACGTTTGTCTCCAACAAGAGACAGCTTTCCCCAAGAGAATAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTGCAAGCCCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCTAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCGGAGAATAATTTTTATATATTCTTGTCCCTTAGTGCTTGGTCCAGTGTTGGCACTTAGCAGGAACTAAAAACATTTTGCAAGACTGTTTCAATCTAGCCACACTTTGGCAGCAGCTGATTTTTAACAGGCCTCTTTGAAGGTAAATGGCTTTCAAATGTATAGGCTTAATCTATTTGCCCTCCAGGGCAAGCTCTGGGGATAGTCCATGCGTAGTACGAAGCACATTATAGATTGTAAACTATAATCAGCGATCCCCTCCTCTACATATACCCATATTCTGTGACCAATAAGCAACATCAGAGGTAATAAACAGAGGTAGAATAAGGGAAATGCCAACATTTTCCTCCTGCCCCTGCCTGCTTCCAATGTAGAGCGCTTTGCTCTGAAGAATGACAAACACAGTTCCAATAAGGCCTAAATTCTATCCTACTGGATAGAATCCTCTGGACCTACTAAGTATCCAATATGAACCAAATCAACCACCTCAACCATTCATTTTCCTCAAGTAGCTAAAAAGAAAGTGAATGAAAAGACAAAAGGTACTAAAAACAATGGACAACATAATAATCATGGCAGGTGTAGGGGAAGAATGCTCCTACTTCTGGTTGAGTTCTCTTCCTATGGGAGGGCATACAAAACAAATGCCAGCAAGCAAACAGAACCATGCCAAAAGCCCAAAAGGGCTCTTTAGTGCCATTTAAGCAGAACCAAGTGCAAAGCACTCAATTTGAAGATAGCGGCTGAAATTCCTATAGTAAACACAGTGTCACCTAGAGTCCAAAGCCTGTGACATAAGAGGAGAATTGTTAGATTATCAGTAATAACAACATTTATTGGTACTAAACCACACTGGCATTTAATGGTGTCTTTACAGCATACAGTGCCTCTGTATTCAGAGGCAATGTATTTACTGTTAAGAATCATGGCATACTCAAATTAGCTGGGTAGGGTGGAAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGTGGGAGAATCACGTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCACTGCAGCCAGGG
Task1_train_27595
A mutation on Chromosome 20 affecting CSNK2A1 (casein kinase 2 alpha 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not provided
GAAATGCCAACATTTTCCTCCTGCCCCTGCCTGCTTCCAATGTAGAGCGCTTTGCTCTGAAGAATGACAAACACAGTTCCAATAAGGCCTAAATTCTATCCTACTGGATAGAATCCTCTGGACCTACTAAGTATCCAATATGAACCAAATCAACCACCTCAACCATTCATTTTCCTCAAGTAGCTAAAAAGAAAGTGAATGAAAAGACAAAAGGTACTAAAAACAATGGACAACATAATAATCATGGCAGGTGTAGGGGAAGAATGCTCCTACTTCTGGTTGAGTTCTCTTCCTATGGGAGGGCATACAAAACAAATGCCAGCAAGCAAACAGAACCATGCCAAAAGCCCAAAAGGGCTCTTTAGTGCCATTTAAGCAGAACCAAGTGCAAAGCACTCAATTTGAAGATAGCGGCTGAAATTCCTATAGTAAACACAGTGTCACCTAGAGTCCAAAGCCTGTGACATAAGAGGAGAATTGTTAGATTATCAGTAATAACAACATTTATTGGTACTAAACCACACTGGCATTTAATGGTGTCTTTACAGCATACAGTGCCTCTGTATTCAGAGGCAATGTATTTACTGTTAAGAATCATGGCATACTCAAATTAGCTGGGTAGGGTGGAAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGTGGGAGAATCACGTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCACTGCAGCCAGGGCAACAGAGCAAGACTCATTTCCACACACACACATACACAAATTCATGGCATACTCAAGATTAAAAATACGCCCTATGACAATTTAGGGAAGCCATCCACTAACCACTTACAGGTTACAGAAATCACATGCAGTCAGATATAAAATACAGCATACAGGAGCTGTAGCTTTAGTTTTCAAATTGCTTTCTTTTGCACTTGAATGTCAAAATGCTTTTATCACAAAAGTATGATCTGAACAATTAAATGTCTACCACATTGGGACAGGAAATGCAAACATCCAAATGAGTCTGCACAGAGAATTAGGAGGGCAAACACAGCTGTTCAGGCAGACTACAACTGTTCAAGATAGAATTTGGGCTGAATTCCATGCTAAGACATGCCTAGTCTCAGGATAAGGGCAAATGTTTAAGAATTTAATTGTTTCTCATCAGAAAGAAGTTACCTCTTTGGAGAACTGTTTCGTCCTCCTGTATTAACACGAAACAACATTCTCTACCTCAAAAATACTTTATATAAGACTTTGGTGTTTTCAAAGTCTCTCAAGTATCACTTCTCACTGATCTGCAATGCCCTTGGCTTGATAAGCAAGCTGATAGGTAACTTTTTGTTGCCAGGTGCCCATACAGAATACCGTCATGCGTTATTTAATGACATTCTGAGAAATGTGTTAAACATCAGAGTGTTTACACAAACCTACATGGTATGGCATATTACATACCTAGGGTATGGCCTACGGCTCCTAGGATACAAATGTGTACCGTAATAAATACTTTAGGCAATTGTAACACAATGGTATTTGTGTATCTAAACGTAGAAAAGGTAATGAATGCACTGTTGATGTTACGATGACATCACTAGGCCACAGACATTTTTCAGCTCTCTTATAATCTTATGGAACCACTGTCCTACATGTGGTCTGTCATTAATTCAAACTTTGTTATGTGGTGCACGACTGCATATACATCATAGAAAAGGATAAGAAACTAAAATGATTTTTAAATGGTAAGCCCATTAAAATTGTTCACTTGCCAAAGCAACTCTGCTTCCTCACTGCAAAACCAAATTTTCAGCTCAAAAGAAAACACAAATTGGGCTTTGATCCTGAGGTATACACATACAGAGTCACGGAGGTTTTCTGACAAAAACTACTCAACAGATCCACAAGATTCAGCCCTTTGAGTGAGTATAATGAAGTCAACAAAAACAATTACCCCCATTCCACCACATGTGACTCGTAATCCCAGTATTCTCGAGGTCTGTGTGTATTAACATCTGTGTAAACTCTGGCCCTGCTTGGCACGGGTCCCGACATGTCAGACAGGTTGGCGGACAAAGCTGGACTTGATGTTTGGAGATCTGGCAGTCACTGTGTTCAGAAGCAGCTGGGGGTAAGACCTTGTTTCAGACCTGTTTTCTTCAAACTGCAGAAACAAAATGCACAAAGTCCAAGGAATCATTTACAGAAGGTATATGGGAAGGAAATAATCTTACAAATAATAATGGCCTGAAATATACCTCTGGCTCTCCTACCTACAGCCAATAAATATAGCTCAACTGTGTTAACCAGTGCTTCCTATAACATGAGAAGAAAAATCCCAAGAAATACAGTAAACTGATATTTGCTTTAATCATATTTTGCCAAATATCCTGTTACCTCTGCAGGCAAAATTTGAATGATTTTTGTAAGACAGCCTGGAAGAGAAAAATGGCATTGAGGATAGATACATCAGCATTACCACTAGTTATATATTCTACAAAAGGTATTGGCAAGAAAAATACTTTCTTTTCAGCAGCTTTCTGTAACTTAAGTAGGGGTGCTAAAAGGTTCTAGAATGGCGGCAAAGCTAAGAGTACAACTTGCCATTCTGACTCATATTTGATGAAACCAGGAAGAGAATAAAGGCTTGTTCTCATACATCAAAGCTCCATGTCATCTTATACCAATCCAAATCTTTTGGGGGAACCTTAAGGTAATAATCAGTAGAACCTTGATCACCATTTGAAAGACACACTTGGTTTCATTAAATTTAAAAACAGAAATCAGTAATATTCTCTTTATATTTAATACAGGAGCTTAAAAACTGGTATAAAACAGTAATACAGATTAGCTGAGCTAATGCAAAATTTGACACCGGGGGAAAATAAGTAAGATGTTAGAAATATGCTATCAAATCAGGTTCCTTTCCAATGATGTCTTCCCTATCTCCTACAGCATGTGCTGATTCCCCTCATTATGCATTTAGATGAAATTGTATTGAGTCTCCAGATTGTGATAACGTGAGAAGGATATAACACGTATGCAAGTCTCCTGGCTGAGACAGCATAACTTCAATTTGTATGTGTGTATGTGTTTTAAGACAGGGTCTTATTCCACTGCCCAGACTGGAATGCAGTGGTGTGATCATGGCTCACTGAAGCCTCAACTTCCTGGACTCCGGTGATTCTTTCACCTCAGCCTCCCAGGTAGCTGAGACTACAGGCACGCACCACCACCCTCAGCTAATTTTCTGTATTTTCAGTAGAGACGGTGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGAGATCACAGATGTGAGCCACCGCACCCAGCCATAACTTCAATTCAATTACCAGGAAACATTCAGAAAAAGAGGAAGTGTCTATTTAAAAAGGGGGAAGGGGTACTATACTTCTAAAACATGTCCACAGCATAAAAGACAAATGGAGGCTAAAGAGACATTGCATAAATGCAATACTCTAGACTGTATCCCATACTGCAGGAGGTGGAGGGGGATGCTATAAAAAACAATATCGACAGAACTGGAATTCAGAGGGTATTAAATTATTGTATCAATGTAAATTTGTGAAGTTGGTACATAATCACAATAGTTAAGAGAATATACCTATTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCTGCCGCCTCCCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATAGGGTTTCTCTATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCTCGCCCAGCCCAAGAATATGTCTATTGTTAAGAAATTTTCCTGAAGTAATTAGAAGTAAACAGCCATGATGCATATAATCTACCCTAAAATGATTCAGGAAAAAAATGTGCCCACACGTTTACATGTGTATATA
GAAATGCCAACATTTTCCTCCTGCCCCTGCCTGCTTCCAATGTAGAGCGCTTTGCTCTGAAGAATGACAAACACAGTTCCAATAAGGCCTAAATTCTATCCTACTGGATAGAATCCTCTGGACCTACTAAGTATCCAATATGAACCAAATCAACCACCTCAACCATTCATTTTCCTCAAGTAGCTAAAAAGAAAGTGAATGAAAAGACAAAAGGTACTAAAAACAATGGACAACATAATAATCATGGCAGGTGTAGGGGAAGAATGCTCCTACTTCTGGTTGAGTTCTCTTCCTATGGGAGGGCATACAAAACAAATGCCAGCAAGCAAACAGAACCATGCCAAAAGCCCAAAAGGGCTCTTTAGTGCCATTTAAGCAGAACCAAGTGCAAAGCACTCAATTTGAAGATAGCGGCTGAAATTCCTATAGTAAACACAGTGTCACCTAGAGTCCAAAGCCTGTGACATAAGAGGAGAATTGTTAGATTATCAGTAATAACAACATTTATTGGTACTAAACCACACTGGCATTTAATGGTGTCTTTACAGCATACAGTGCCTCTGTATTCAGAGGCAATGTATTTACTGTTAAGAATCATGGCATACTCAAATTAGCTGGGTAGGGTGGAAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGTGGGAGAATCACGTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCACTGCAGCCAGGGCAACAGAGCAAGACTCATTTCCACACACACACATACACAAATTCATGGCATACTCAAGATTAAAAATACGCCCTATGACAATTTAGGGAAGCCATCCACTAACCACTTACAGGTTACAGAAATCACATGCAGTCAGATATAAAATACAGCATACAGGAGCTGTAGCTTTAGTTTTCAAATTGCTTTCTTTTGCACTTGAATGTCAAAATGCTTTTATCACAAAAGTATGATCTGAACAATTAAATGTCTACCACATTGGGACAGGAAATGCAAACATCCAAATGAGTCTGCACAGAGAATTAGGAGGGCAAACACAGCTGTTCAGGCAGACTACAACTGTTCAAGATAGAATTTGGGCTGAATTCCATGCTAAGACATGCCTAGTCTCAGGATAAGGGCAAATGTTTAAGAATTTAATTGTTTCTCATCAGAAAGAAGTTACCTCTTTGGAGAACTGTTTCGTCCTCCTGTATTAACACGAAACAACATTCTCTACCTCAAAAATACTTTATATAAGACTTTGGTGTTTTCAAAGTCTCTCAAGTATCACTTCTCACTGATCTGCAATGCCCTTGGCTTGATAAGCAAGCTGATAGGTAACTTTTTGTTGCCAGGTGCCCATACAGAATACCGTCATGCGTTATTTAATGACATTCTGAGAAATGTGTTAAACATCAGAGTGTTTACACAAACCTACATGGTATGGCATATTACATACCTAGGGTATGGCCTACGGCTCCTAGGATACAAATGTGTACCGTAATAAATACTTTAGGCAATTGTAACACAATGGTATTTGTGTATCTAAACGTAGAAAAGGTAATGAATGCACTGTTGATGTTACGATGACATCACTAGGCCACAGACATTTTTCAGCTCTCTTATAATCTTATGGAACCACTGTCCTACATGTGGTCTGTCATTAATTCAAACTTTGTTATGTGGTGCACGACTGCATATACATCATAGAAAAGGATAAGAAACTAAAATGATTTTTAAATGGTAAGCCCATTAAAATTGTTCACTTGCCAAAGCAACTCTGCTTCCTCACTGCAAAACCAAATTTTCAGCTCAAAAGAAAACACAAATTGGGCTTTGATCCTGAGGTATACACATACAGAGTCACGGAGGTTTTCTGACAAAAACTACTCAACAGATCCACAAGATTCAGCCCTTTGAGTGAGTATAATGAAGTCAACAAAAACAATTACCCCCATTCCACCACATGTGACTCGTAATCCCAGTATTCTCGAGGTCTGTGTGTATTAACATCTGTGTAAACTCTGGCCCTGCTTGGCACGGGTCCCGACACGTCAGACAGGTTGGCGGACAAAGCTGGACTTGATGTTTGGAGATCTGGCAGTCACTGTGTTCAGAAGCAGCTGGGGGTAAGACCTTGTTTCAGACCTGTTTTCTTCAAACTGCAGAAACAAAATGCACAAAGTCCAAGGAATCATTTACAGAAGGTATATGGGAAGGAAATAATCTTACAAATAATAATGGCCTGAAATATACCTCTGGCTCTCCTACCTACAGCCAATAAATATAGCTCAACTGTGTTAACCAGTGCTTCCTATAACATGAGAAGAAAAATCCCAAGAAATACAGTAAACTGATATTTGCTTTAATCATATTTTGCCAAATATCCTGTTACCTCTGCAGGCAAAATTTGAATGATTTTTGTAAGACAGCCTGGAAGAGAAAAATGGCATTGAGGATAGATACATCAGCATTACCACTAGTTATATATTCTACAAAAGGTATTGGCAAGAAAAATACTTTCTTTTCAGCAGCTTTCTGTAACTTAAGTAGGGGTGCTAAAAGGTTCTAGAATGGCGGCAAAGCTAAGAGTACAACTTGCCATTCTGACTCATATTTGATGAAACCAGGAAGAGAATAAAGGCTTGTTCTCATACATCAAAGCTCCATGTCATCTTATACCAATCCAAATCTTTTGGGGGAACCTTAAGGTAATAATCAGTAGAACCTTGATCACCATTTGAAAGACACACTTGGTTTCATTAAATTTAAAAACAGAAATCAGTAATATTCTCTTTATATTTAATACAGGAGCTTAAAAACTGGTATAAAACAGTAATACAGATTAGCTGAGCTAATGCAAAATTTGACACCGGGGGAAAATAAGTAAGATGTTAGAAATATGCTATCAAATCAGGTTCCTTTCCAATGATGTCTTCCCTATCTCCTACAGCATGTGCTGATTCCCCTCATTATGCATTTAGATGAAATTGTATTGAGTCTCCAGATTGTGATAACGTGAGAAGGATATAACACGTATGCAAGTCTCCTGGCTGAGACAGCATAACTTCAATTTGTATGTGTGTATGTGTTTTAAGACAGGGTCTTATTCCACTGCCCAGACTGGAATGCAGTGGTGTGATCATGGCTCACTGAAGCCTCAACTTCCTGGACTCCGGTGATTCTTTCACCTCAGCCTCCCAGGTAGCTGAGACTACAGGCACGCACCACCACCCTCAGCTAATTTTCTGTATTTTCAGTAGAGACGGTGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGAGATCACAGATGTGAGCCACCGCACCCAGCCATAACTTCAATTCAATTACCAGGAAACATTCAGAAAAAGAGGAAGTGTCTATTTAAAAAGGGGGAAGGGGTACTATACTTCTAAAACATGTCCACAGCATAAAAGACAAATGGAGGCTAAAGAGACATTGCATAAATGCAATACTCTAGACTGTATCCCATACTGCAGGAGGTGGAGGGGGATGCTATAAAAAACAATATCGACAGAACTGGAATTCAGAGGGTATTAAATTATTGTATCAATGTAAATTTGTGAAGTTGGTACATAATCACAATAGTTAAGAGAATATACCTATTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCTGCCGCCTCCCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATAGGGTTTCTCTATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCTCGCCCAGCCCAAGAATATGTCTATTGTTAAGAAATTTTCCTGAAGTAATTAGAAGTAAACAGCCATGATGCATATAATCTACCCTAAAATGATTCAGGAAAAAAATGTGCCCACACGTTTACATGTGTATATA
Task1_train_27596
The gene SLC52A3 (solute carrier family 52 member 3) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Brown-Vialetto-van Laere syndrome 1
GGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTCATGGACTGATGACAATGATGGTCAACGCTTAGGCTGGACCTGCCACGTGCCAGGCACCGCTCCAAGAGCTTTATAGAATCAGCTCATATCATGCTTCCAGCAGTCCTAGGAGGTGGAATGTTACACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTT
GGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTCATGGACTGATGACAATGATGGTCAACGCTTAGGCTGGACCTGCCACGTGCCAGGCACCGCTCCAAGAGCTTTATAGAATCAGCTCATATCATGCTTCCAGCAGTCCTAGGAGGTGGAATGTTACACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAGGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTT
Task1_train_27597
A genomic change on Chromosome 20 affects SLC52A3 (solute carrier family 52 member 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; SLC52A3-related disorder
ACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAGGTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTTTCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCTGGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAACCGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGCAGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACACGGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTGTCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTGATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACTGAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGACTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTATCTCCCTTCGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGATGGTCTCTTCACATGGACGCGCGTGACATTCCTAATATATAAAGAGTTTTTAAAAATCAAGAACAAAGAGACCCCATATAGAAGAGGGCCAAGGATATGAACAATTCAGAGAAAAAGGTACAAATAAGCTTTAAACACATGAAAATATTATCACCTTCATTCACAATAGGAAAACTACTCCAGGTGCCATTTCTCACCATGAGATTGTCCCAAAGCCTGACAAAATGACTCATGTTCAAGGTTATTATAGATTGCGATCTTGTTGGTAATAGCAAGTTATGGGAAATTTTCTCCTGGGTGGCTACCAACAGAGAGGGGGCTAATTAAAGGGACCTGCTGGAATACCACATACCTGTTTAAAGGAATAAGAAATAAGGAAAGCAGATCTTGGTGACTGATAAGGAAAGGTCTCCAGGCTATAATAATAATCTTGAAACAAAATCAAGGCAGGTAAATGGAACCAGGAAAAAGTGTACTGCCTTTTGGTCATAGAAGAGGAGGAAAAACATGTTTTCTTTGCTTGTACTTGCACAAAGCAACCCTTGAAGGACACACAGGGACTGCAGGGATGTTGGTGATGCCTCTGTATATCTTTTTTTTTTTTCTTGT
ACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGTCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAGGTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTTTCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCTGGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAACCGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGCAGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACACGGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTGTCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTGATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACTGAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGACTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTATCTCCCTTCGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGATGGTCTCTTCACATGGACGCGCGTGACATTCCTAATATATAAAGAGTTTTTAAAAATCAAGAACAAAGAGACCCCATATAGAAGAGGGCCAAGGATATGAACAATTCAGAGAAAAAGGTACAAATAAGCTTTAAACACATGAAAATATTATCACCTTCATTCACAATAGGAAAACTACTCCAGGTGCCATTTCTCACCATGAGATTGTCCCAAAGCCTGACAAAATGACTCATGTTCAAGGTTATTATAGATTGCGATCTTGTTGGTAATAGCAAGTTATGGGAAATTTTCTCCTGGGTGGCTACCAACAGAGAGGGGGCTAATTAAAGGGACCTGCTGGAATACCACATACCTGTTTAAAGGAATAAGAAATAAGGAAAGCAGATCTTGGTGACTGATAAGGAAAGGTCTCCAGGCTATAATAATAATCTTGAAACAAAATCAAGGCAGGTAAATGGAACCAGGAAAAAGTGTACTGCCTTTTGGTCATAGAAGAGGAGGAAAAACATGTTTTCTTTGCTTGTACTTGCACAAAGCAACCCTTGAAGGACACACAGGGACTGCAGGGATGTTGGTGATGCCTCTGTATATCTTTTTTTTTTTTCTTGT
Task1_train_27598
Located on Chromosome 20, this mutation impacts SLC52A3 (solute carrier family 52 member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Progressive bulbar palsy of childhood
ACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAGGTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTTTCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCTGGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAACCGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGCAGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACACGGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTGTCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTGATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACTGAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGACTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTATCTCCCTTCGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGATGGTCTCTTCACATGGACGCGCGTGACATTCCTAATATATAAAGAGTTTTTAAAAATCAAGAACAAAGAGACCCCATATAGAAGAGGGCCAAGGATATGAACAATTCAGAGAAAAAGGTACAAATAAGCTTTAAACACATGAAAATATTATCACCTTCATTCACAATAGGAAAACTACTCCAGGTGCCATTTCTCACCATGAGATTGTCCCAAAGCCTGACAAAATGACTCATGTTCAAGGTTATTATAGATTGCGATCTTGTTGGTAATAGCAAGTTATGGGAAATTTTCTCCTGGGTGGCTACCAACAGAGAGGGGGCTAATTAAAGGGACCTGCTGGAATACCACATACCTGTTTAAAGGAATAAGAAATAAGGAAAGCAGATCTTGGTGACTGATAAGGAAAGGTCTCCAGGCTATAATAATAATCTTGAAACAAAATCAAGGCAGGTAAATGGAACCAGGAAAAAGTGTACTGCCTTTTGGTCATAGAAGAGGAGGAAAAACATGTTTTCTTTGCTTGTACTTGCACAAAGCAACCCTTGAAGGACACACAGGGACTGCAGGGATGTTGGTGATGCCTCTGTATATCTTTTTTTTTTTTCTTGT
ACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGTCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAGGTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTTTCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCTGGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAACCGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGCAGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACACGGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTGTCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTGATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACTGAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGACTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTATCTCCCTTCGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGATGGTCTCTTCACATGGACGCGCGTGACATTCCTAATATATAAAGAGTTTTTAAAAATCAAGAACAAAGAGACCCCATATAGAAGAGGGCCAAGGATATGAACAATTCAGAGAAAAAGGTACAAATAAGCTTTAAACACATGAAAATATTATCACCTTCATTCACAATAGGAAAACTACTCCAGGTGCCATTTCTCACCATGAGATTGTCCCAAAGCCTGACAAAATGACTCATGTTCAAGGTTATTATAGATTGCGATCTTGTTGGTAATAGCAAGTTATGGGAAATTTTCTCCTGGGTGGCTACCAACAGAGAGGGGGCTAATTAAAGGGACCTGCTGGAATACCACATACCTGTTTAAAGGAATAAGAAATAAGGAAAGCAGATCTTGGTGACTGATAAGGAAAGGTCTCCAGGCTATAATAATAATCTTGAAACAAAATCAAGGCAGGTAAATGGAACCAGGAAAAAGTGTACTGCCTTTTGGTCATAGAAGAGGAGGAAAAACATGTTTTCTTTGCTTGTACTTGCACAAAGCAACCCTTGAAGGACACACAGGGACTGCAGGGATGTTGGTGATGCCTCTGTATATCTTTTTTTTTTTTCTTGT
Task1_train_27599
A genomic change on Chromosome 20 affects SLC52A3 (solute carrier family 52 member 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Brown-Vialetto-van Laere syndrome 1
AAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAGGTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTTTCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCTGGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAACCGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGCAGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACACGGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTGTCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTGATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACTGAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGACTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTATCTCCCTTCGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGATGGTCTCTTCACATGGACGCGCGTGACATTCCTAATATATAAAGAGTTTTTAAAAATCAAGAACAAAGAGACCCCATATAGAAGAGGGCCAAGGATATGAACAATTCAGAGAAAAAGGTACAAATAAGCTTTAAACACATGAAAATATTATCACCTTCATTCACAATAGGAAAACTACTCCAGGTGCCATTTCTCACCATGAGATTGTCCCAAAGCCTGACAAAATGACTCATGTTCAAGGTTATTATAGATTGCGATCTTGTTGGTAATAGCAAGTTATGGGAAATTTTCTCCTGGGTGGCTACCAACAGAGAGGGGGCTAATTAAAGGGACCTGCTGGAATACCACATACCTGTTTAAAGGAATAAGAAATAAGGAAAGCAGATCTTGGTGACTGATAAGGAAAGGTCTCCAGGCTATAATAATAATCTTGAAACAAAATCAAGGCAGGTAAATGGAACCAGGAAAAAGTGTACTGCCTTTTGGTCATAGAAGAGGAGGAAAAACATGTTTTCTTTGCTTGTACTTGCACAAAGCAACCCTTGAAGGACACACAGGGACTGCAGGGATGTTGGTGATGCCTCTGTATATCTTTTTTTTTTTTCTTGTGACAGAGTCTTACTCTGTCACCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCAGCTAATTTTTTGTATTTTTATTAGAGATGGGGTTTCTCCGTGTTAGCCAGGATGGTCTCAATCTCCTGATCTTGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCTGGCCCTGCCTCTGTATATCTTTTAATAAGAGTTTTGATTTGTGAACCATGTAAACATATTACCTGATGCAAATATATGGTTACCTGAAAT
AAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGTCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAGGTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTTTCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCTGGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAACCGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGCAGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACACGGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTGTCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTGATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACTGAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGACTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTATCTCCCTTCGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGATGGTCTCTTCACATGGACGCGCGTGACATTCCTAATATATAAAGAGTTTTTAAAAATCAAGAACAAAGAGACCCCATATAGAAGAGGGCCAAGGATATGAACAATTCAGAGAAAAAGGTACAAATAAGCTTTAAACACATGAAAATATTATCACCTTCATTCACAATAGGAAAACTACTCCAGGTGCCATTTCTCACCATGAGATTGTCCCAAAGCCTGACAAAATGACTCATGTTCAAGGTTATTATAGATTGCGATCTTGTTGGTAATAGCAAGTTATGGGAAATTTTCTCCTGGGTGGCTACCAACAGAGAGGGGGCTAATTAAAGGGACCTGCTGGAATACCACATACCTGTTTAAAGGAATAAGAAATAAGGAAAGCAGATCTTGGTGACTGATAAGGAAAGGTCTCCAGGCTATAATAATAATCTTGAAACAAAATCAAGGCAGGTAAATGGAACCAGGAAAAAGTGTACTGCCTTTTGGTCATAGAAGAGGAGGAAAAACATGTTTTCTTTGCTTGTACTTGCACAAAGCAACCCTTGAAGGACACACAGGGACTGCAGGGATGTTGGTGATGCCTCTGTATATCTTTTTTTTTTTTCTTGTGACAGAGTCTTACTCTGTCACCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCAGCTAATTTTTTGTATTTTTATTAGAGATGGGGTTTCTCCGTGTTAGCCAGGATGGTCTCAATCTCCTGATCTTGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCTGGCCCTGCCTCTGTATATCTTTTAATAAGAGTTTTGATTTGTGAACCATGTAAACATATTACCTGATGCAAATATATGGTTACCTGAAAT